Early Developmental Assessment of Children with Major Non-Cardiac Congenital Anomalies Predicts Development at the Age of 5 Years

ERIC Educational Resources Information Center

Mazer, Petra; Gischler, Saskia J.; van der Cammen-van Zijp, Monique H. M.; Tibboel, Dick; Bax, Nicolaas M. A.; Ijsselstijn, Hanneke; van Dijk, Monique; Duivenvoorden, Hugo J.

2010-01-01

Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…

Genetic and flow anomalies in congenital heart disease.

PubMed

Rugonyi, Sandra

2016-01-01

Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disruptions of it can lead to severe malformations. Dysregulation of developmental processes leading to heart malformations are caused by genetic anomalies but also environmental factors including blood flow. Intra-cardiac blood flow dynamics plays a significant role regulating heart development and perturbations of blood flow lead to congenital heart defects in animal models. Defects that result from hemodynamic alterations, however, recapitulate those observed in human babies, even those due to genetic anomalies and toxic teratogen exposure. Because important cardiac developmental events, such as valve formation and septation, occur under blood flow conditions while the heart is pumping, blood flow regulation of cardiac formation might be a critical factor determining cardiac phenotype. The contribution of flow to cardiac phenotype, however, is frequently ignored. More research is needed to determine how blood flow influences cardiac development and the extent to which flow may determine cardiac phenotype.

Congenital basis of posterior fossa anomalies

PubMed Central

Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

2015-01-01

The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

The developmental field concept in pediatric pathology--especially with respect to fibular a/hypoplasia and the DiGeorge anomaly.

PubMed

Opitz, J M; Lewin, S O

1987-01-01

Identical anomalies produced by different causes such as aneuploidy, gene mutation, teratogenic chemicals, and certain surgical procedures are a clear indication that embryonic primordia respond as units in the production of developmental anomalies of anatomic structure. Hence, they must also act as units during normal ontogeny. The presence of identical malformations in different mammalian species identifies developmental and anatomic homology by virtue of descent from a common ancestor. These dys- and orthomorphogenetically reactive units are the equivalents of the classic experimental embryologist's epimorphic fields, which are those units of the embryo in which the development of complex structures appropriate to the species is determined and controlled in a spatially coordinated, temporarily synchronous, and epimorphically hierarchical manner that expresses both species-nonspecific (that is, phylogenetic) and species-specific genetically coded developmental information. Thus, it is as important for pathologists as it is for clinical geneticists to steep themselves in the art and science of phenotype analysis and to be able to do all of those studies, including anthropometry, dermatoglyphics, and growth analysis, that are required to arrive at inferences of cause and pathogenesis from the phenotype. There is probably one other incentive besides the ethical and intellectual ones to do this and to do it as well as possible, namely, the medico-legal consequences. If pathologists fail to illuminate the causal genesis of a given case to aid in preventing recurrence, then, in short order, they might be held equally as liable as clinicians for missing high recurrence risk genetic diagnoses. These depressing considerations aside, it is important to close on a positive note. As at the outset, we want to emphasize once more that, without question, this is the most exciting time to be working in the field of developmental pathology. In this specialty a marriage is

Developmental, nutritional and hormonal anomalies of weightlessness-grown wheat

NASA Astrophysics Data System (ADS)

Carman, J. G.; Hole, P.; Salisbury, F. B.; Bingham, G. E.

2015-07-01

The behavior of water in weightlessness, as occurs in orbiting spacecraft, presents multiple challenges for plant growth. Soils remain saturated, impeding aeration, and leaf surfaces remain wet, impeding gas exchange. Herein we report developmental and biochemical anomalies of "Super Dwarf" wheat (Triticum aestivum L.) grown aboard Space Station Mir during the 1996-97 "Greenhouse 2" experiment. Leaves of Mir-grown wheat were hyperhydric, senesced precociously and accumulated aromatic and branched-chain amino acids typical of tissues experiencing oxidative stress. The highest levels of stress-specific amino acids occurred in precociously-senescing leaves. Our results suggest that the leaf ventilation system of the Svet Greenhouse failed to remove sufficient boundary layer water, thus leading to poor gas exchange and onset of oxidative stress. As oxidative stress in plants has been observed in recent space-flight experiments, we recommend that percentage water content in apoplast free-spaces of leaves be used to evaluate leaf ventilation effectiveness. Mir-grown plants also tillered excessively. Crowns and culms of these plants contained low levels of abscisic acid but high levels of cytokinins. High ethylene levels may have suppressed abscisic acid synthesis, thus permitting cytokinins to accumulate and tillering to occur.

Breast Developmental Anomalies in Dormaa Municipality of Ghana: Prevalence and Impact on the Life of the Individual

PubMed Central

Agbenorku, P.; Otupiri, E.; Fugar, S.

2013-01-01

Background. Breast developmental anomalies (BDAs) are abnormalities of breast tissue that arise during breast development. Some of the anomalies can have negative impact on the person's life. This study seeks to assess the prevalence of BDA in the Dormaa Municipality in Ghana and its impact on the life of the individual. Materials and Methods. A descriptive study involving 500 female respondents aged between 11 and 25 years from selected schools in the Dormaa Municipality using self-administered questionnaires and interviews. Results. From the study, it was found that the prevalence of BDA in the municipality was 12.8%. The commonest BDA was bilateral hypoplasia which accounted for 31.3% of the BDAs found in the study. Nine (14.1%) complained of the BDA affecting their lives with most being teased in school. Twenty-two (34.4%) girls out of the 64 with BDAs had a family member with a BDA. Conclusion. BDA is a worry; therefore, comprehensive educational programs for health workers and the general public are needed to increase awareness. Also, work should be done to include education on BDA when awareness is being raised about breast cancer and on the importance of breast self-Examination (BSE). PMID:23577249

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

PubMed

Hanson, I M; Fletcher, J M; Jordan, T; Brown, A; Taylor, D; Adams, R J; Punnett, H H; van Heyningen, V

1994-02-01

Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of evidence now converge to implicate PAX6 more widely in anterior segment malformations including Peters' anomaly. First, a child with Peters' anomaly is deleted for one copy of PAX6. Second, affected members of a family with dominantly inherited anterior segment malformations, including Peters' anomaly are heterozygous for an R26G mutation in the PAX6 paired box. Third, a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax-6, have an ocular phenotype resembling Peters' anomaly. We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations.

The role of noninvasive and invasive diagnostic imaging techniques for detection of extra-cranial venous system anomalies and developmental variants

PubMed Central

2013-01-01

The extra-cranial venous system is complex and not well studied in comparison to the peripheral venous system. A newly proposed vascular condition, named chronic cerebrospinal venous insufficiency (CCSVI), described initially in patients with multiple sclerosis (MS) has triggered intense interest in better understanding of the role of extra-cranial venous anomalies and developmental variants. So far, there is no established diagnostic imaging modality, non-invasive or invasive, that can serve as the “gold standard” for detection of these venous anomalies. However, consensus guidelines and standardized imaging protocols are emerging. Most likely, a multimodal imaging approach will ultimately be the most comprehensive means for screening, diagnostic and monitoring purposes. Further research is needed to determine the spectrum of extra-cranial venous pathology and to compare the imaging findings with pathological examinations. The ability to define and reliably detect noninvasively these anomalies is an essential step toward establishing their incidence and prevalence. The role for these anomalies in causing significant hemodynamic consequences for the intra-cranial venous drainage in MS patients and other neurologic disorders, and in aging, remains unproven. PMID:23806142

Developmental, nutritional and hormonal anomalies of weightlessness-grown wheat.

PubMed

Carman, J G; Hole, P; Salisbury, F B; Bingham, G E

2015-07-01

The behavior of water in weightlessness, as occurs in orbiting spacecraft, presents multiple challenges for plant growth. Soils remain saturated, impeding aeration, and leaf surfaces remain wet, impeding gas exchange. Herein we report developmental and biochemical anomalies of "Super Dwarf" wheat (Triticum aestivum L.) grown aboard Space Station Mir during the 1996-97 "Greenhouse 2" experiment. Leaves of Mir-grown wheat were hyperhydric, senesced precociously and accumulated aromatic and branched-chain amino acids typical of tissues experiencing oxidative stress. The highest levels of stress-specific amino acids occurred in precociously-senescing leaves. Our results suggest that the leaf ventilation system of the Svet Greenhouse failed to remove sufficient boundary layer water, thus leading to poor gas exchange and onset of oxidative stress. As oxidative stress in plants has been observed in recent space-flight experiments, we recommend that percentage water content in apoplast free-spaces of leaves be used to evaluate leaf ventilation effectiveness. Mir-grown plants also tillered excessively. Crowns and culms of these plants contained low levels of abscisic acid but high levels of cytokinins. High ethylene levels may have suppressed abscisic acid synthesis, thus permitting cytokinins to accumulate and tillering to occur. Copyright © 2015 The Committee on Space Research (COSPAR). Published by Elsevier Ltd. All rights reserved.

The prevalence of dental anomalies in a turkish population.

PubMed

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.

Awareness of breast developmental anomalies: a study in Jamasi, Ghana.

PubMed

Agbenorku, P; Agbenorku, M; Iddi, A; Amevor, E; Kofitse, M; Klutsey, E

2011-10-01

Few global studies investigating breast developmental anomalies (BDA) among young females have been conducted. This study aimed to evaluate the degree of BDA awareness among young females in central Ghana. In February 2008, clinical breast examination was performed for both breasts of female volunteers at five selected junior high schools (JHS) in Jamasi, Ghana. Anonymous pretested questionnaires were administered to those found to have BDA. Of the 600 female students surveyed, 78 (13%) were found to have BDA. All 78 females completed the questionnaire. The respondents ranged in age from 12 to 21 years (mean 15.3 years). Most of the respondents (83%) had some knowledge of BDA. Although 63% had been aware of their own BDA for 1-3 years before the survey; 78% did not know the cause of their BDA. According to their self-reports, BDA had no influence on the schooling of 78.2% or the family of 70.5% of the respondents. Awareness of BDA among the JHS females in Jamasi is high. Appropriate education and treatment should be encouraged for continual management of a high awareness level for BDA.

Morphological abnormalities of embryonic cranial nerves after in utero exposure to valproic acid: implications for the pathogenesis of autism with multiple developmental anomalies.

PubMed

Tashiro, Yasura; Oyabu, Akiko; Imura, Yoshio; Uchida, Atsuko; Narita, Naoko; Narita, Masaaki

2011-06-01

Autism is often associated with multiple developmental anomalies including asymmetric facial palsy. In order to establish the etiology of autism with facial palsy, research into developmental abnormalities of the peripheral facial nerves is necessary. In the present study, to investigate the development of peripheral cranial nerves for use in an animal model of autism, rat embryos were treated with valproic acid (VPA) in utero and their cranial nerves were visualized by immunostaining. Treatment with VPA after embryonic day 9 had a significant effect on the peripheral fibers of several cranial nerves. Following VPA treatment, immunoreactivity within the trigeminal, facial, glossopharyngeal and vagus nerves was significantly reduced. Additionally, abnormal axonal pathways were observed in the peripheral facial nerves. Thus, the morphology of several cranial nerves, including the facial nerve, can be affected by prenatal VPA exposure as early as E13. Our findings indicate that disruption of early facial nerve development is involved in the etiology of asymmetric facial palsy, and may suggest a link to the etiology of autism. Copyright © 2011 ISDN. Published by Elsevier Ltd. All rights reserved.

Continuing harmonization of terminology and innovations for methodologies in developmental toxicology: Report of the 8th Berlin Workshop on Developmental Toxicity, 14-16 May 2014.

PubMed

Solecki, Roland; Rauch, Martina; Gall, Andrea; Buschmann, Jochen; Clark, Ruth; Fuchs, Antje; Kan, Haidong; Heinrich, Verena; Kellner, Rupert; Knudsen, Thomas B; Li, Weihua; Makris, Susan L; Ooshima, Yojiro; Paumgartten, Francisco; Piersma, Aldert H; Schönfelder, Gilbert; Oelgeschläger, Michael; Schaefer, Christof; Shiota, Kohei; Ulbrich, Beate; Ding, Xuncheng; Chahoud, Ibrahim

2015-11-01

This article is a report of the 8th Berlin Workshop on Developmental Toxicity held in May 2014. The main aim of the workshop was the continuing harmonization of terminology and innovations for methodologies used in the assessment of embryo- and fetotoxic findings. The following main topics were discussed: harmonized categorization of external, skeletal, visceral and materno-fetal findings into malformations, variations and grey zone anomalies, aspects of developmental anomalies in humans and laboratory animals, and innovations for new methodologies in developmental toxicology. The application of Version 2 terminology in the DevTox database was considered as a useful improvement in the categorization of developmental anomalies. Participants concluded that initiation of a project for comparative assessments of developmental anomalies in humans and laboratory animals could support regulatory risk assessment and university-based training. Improvement of new methodological approaches for alternatives to animal testing should be triggered for a better understanding of developmental outcomes. Copyright © 2015. Published by Elsevier Inc.

Turtle Carapace Anomalies: The Roles of Genetic Diversity and Environment

PubMed Central

Velo-Antón, Guillermo; Becker, C. Guilherme; Cordero-Rivera, Adolfo

2011-01-01

Background Phenotypic anomalies are common in wild populations and multiple genetic, biotic and abiotic factors might contribute to their formation. Turtles are excellent models for the study of developmental instability because anomalies are easily detected in the form of malformations, additions, or reductions in the number of scutes or scales. Methodology/Principal Findings In this study, we integrated field observations, manipulative experiments, and climatic and genetic approaches to investigate the origin of carapace scute anomalies across Iberian populations of the European pond turtle, Emys orbicularis. The proportion of anomalous individuals varied from 3% to 69% in local populations, with increasing frequency of anomalies in northern regions. We found no significant effect of climatic and soil moisture, or climatic temperature on the occurrence of anomalies. However, lower genetic diversity and inbreeding were good predictors of the prevalence of scute anomalies among populations. Both decreasing genetic diversity and increasing proportion of anomalous individuals in northern parts of the Iberian distribution may be linked to recolonization events from the Southern Pleistocene refugium. Conclusions/Significance Overall, our results suggest that developmental instability in turtle carapace formation might be caused, at least in part, by genetic factors, although the influence of environmental factors affecting the developmental stability of turtle carapace cannot be ruled out. Further studies of the effects of environmental factors, pollutants and heritability of anomalies would be useful to better understand the complex origin of anomalies in natural populations. PMID:21533278

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

PubMed

Sansović, Ivona; Ivankov, Ana-Maria; Bobinec, Adriana; Kero, Mijana; Barišić, Ingeborg

2017-06-14

To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods. In 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was <300 kb (40.5%). Deletions and de novo imbalances were more frequent in pathogenic CNV than in VOUS category. CMA had a high diagnostic yield of 43/307, excluding patients previously detected by other methods. CMA was valuable in establishing the diagnosis in a high proportion of patients. Criteria for classification and interpretation of CNVs include CNV size and type, mode of inheritance, and genotype-phenotype correlation. Agilent ISCA v2 Human Genome 8x60 K oligonucleotide microarray format proved to be reasonable resolution for clinical use, particularly in the regions that are recommended by the International Standard Cytogenomic Array (ISCA) Consortium and associated with well-established syndromes.

Tretinoin: a review of the nonclinical developmental toxicology experience.

PubMed

Kochhar, D M; Christian, M S

1997-03-01

Tretinoin has been thoroughly evaluated for its potential as an embryofetal developmental toxicant. Oral tretinoin produces developmental anomalies in animal models; the minimal teratogenic dose is consistently 2.5 to 10 mg/kg. In contrast, topical application does not induce developmental malformations in laboratory animals. A structurally related compound, isotretinoin, is a potent toxicant in humans and animals; the lowest systemic dose that induces fetal anomalies varies more than 100-fold depending on the model. Oral isotretinoin is a more potent developmental toxicant than oral tretinoin in monkeys. Between-drug differences in the metabolism and transplacental transfer of the two retinoids account for the differences in toxicant potency. Pharmacokinetic studies reveal that absorption of tretinoin from the skin is poor and yields maternal plasma concentrations below the developmentally toxic threshold established after oral administration. Analysis of outcomes of developmental toxicology and pharmacokinetic studies suggests that the human risk of fetal anomalies is negligible after therapeutic application of topical tretinoin.

Distribution, Management Difficulty and Outcome of Branchial Anomalies.

PubMed

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.

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

PubMed

Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

2016-01-01

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

Long-Term Aripiprazole in Youth with Developmental Disabilities Including Autism

ERIC Educational Resources Information Center

Hellings, Jessica A.; Boehm, Danna; Yeh, Hung Wen; Butler, Merlin G.; Schroeder, Stephen R.

2011-01-01

We retrospectively reviewed clinic charts of 21 children and adolescents with developmental disabilities including autism spectrum disorders (ASD) treated consecutively with aripiprazole (ARI) for irritability and severe challenging behaviors. Data extracted include age, sex, and race; level of intellectual disability (ID); "Diagnostic and…

Epileptogenic developmental venous anomaly: insights from simultaneous EEG/fMRI.

PubMed

Scheidegger, Olivier; Wiest, Roland; Jann, Kay; König, Thomas; Meyer, Klaus; Hauf, Martinus

2013-04-01

Developmental venous anomalies (DVAs) are associated with epileptic seizures; however, the role of DVA in the epileptogenesis is still not established. Simultaneous interictal electroencephalogram/functional magnetic resonance imaging (EEG/fMRI) recordings provide supplementary information to electroclinical data about the epileptic generators, and thus aid in the differentiation of clinically equivocal epilepsy syndromes. The main objective of our study was to characterize the epileptic network in a patient with DVA and epilepsy by simultaneous EEG/fMRI recordings. A 17-year-old woman with recently emerging generalized tonic-clonic seizures, and atypical generalized discharges, was investigated using simultaneous EEG/fMRI at the university hospital. Previous high-resolution MRI showed no structural abnormalities, except a DVA in the right frontal operculum. Interictal EEG recordings showed atypical generalized discharges, corresponding to positive focal blood oxygen level dependent (BOLD) correlates in the right frontal operculum, a region drained by the DVA. Additionally, widespread cortical bilateral negative BOLD correlates in the frontal and parietal lobes were delineated, resembling a generalized epileptic network. The EEG/fMRI recordings support a right frontal lobe epilepsy, originating in the vicinity of the DVA, propagating rapidly to both frontal and parietal lobes, as expressed on the scalp EEG by secondary bilateral synchrony. The DVA may be causative of focal epilepsies in cases where no concomitant epileptogenic lesions can be detected. Advanced imaging techniques, such as simultaneous EEG/fMRI, may thus aid in the differentiation of clinically equivocal epilepsy syndromes.

Coexistence of bilateral first and second branchial arch anomalies

PubMed Central

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

ANOMALY STRUCTURE OF SUPERGRAVITY AND ANOMALY CANCELLATION

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

Butter, Daniel; Gaillard, Mary K.

2009-06-10

We display the full anomaly structure of supergravity, including new D-term contributions to the conformal anomaly. This expression has the super-Weyl and chiral U(1){sub K} transformation properties that are required for implementation of the Green-Schwarz mechanism for anomaly cancellation. We outline the procedure for full anomaly cancellation. Our results have implications for effective supergravity theories from the weakly coupled heterotic string theory.

Anomalies.

ERIC Educational Resources Information Center

Online-Offline, 1999

1999-01-01

This theme issue on anomalies includes Web sites, CD-ROMs and software, videos, books, and additional resources for elementary and junior high school students. Pertinent activities are suggested, and sidebars discuss UFOs, animal anomalies, and anomalies from nature; and resources covering unexplained phenonmenas like crop circles, Easter Island,…

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

PubMed

Szczałuba, Krzysztof; Nowakowska, Beata; Sobecka, Katarzyna; Smyk, Marta; Castaneda, Jennifer; Klapecki, Jakub; Kutkowska-Kaźmierczak, Anna; Śmigiel, Robert; Bocian, Ewa; Radkowski, Marek; Demkow, Urszula

2016-01-01

Major congenital anomalies are detectable in 2-3 % of the newborn population. Some of their genetic causes are attributable to copy number variations identified by array comparative genomic hybridization (aCGH). The value of aCGH screening as a first-tier test in children with multiple congenital anomalies has been studied and consensus adopted. However, array resolution has not been agreed upon, specifically in the newborn or infant population. Moreover, most array studies have been focused on mixed populations of intellectual disability/developmental delay with or without multiple congenital anomalies, making it difficult to assess the value of microarrays in newborns. The aim of the study was to determine the optimal quality and clinical sensitivity of high-resolution array comparative genomic hybridization in neonates with multiple congenital anomalies. We investigated a group of 54 newborns with multiple congenital anomalies defined as two or more birth defects from more than one organ system. Cytogenetic studies were performed using OGT CytoSure 8 × 60 K microarray. We found ten rearrangements in ten newborns. Of these, one recurrent syndromic microduplication was observed, whereas all other changes were unique. Six rearrangements were definitely pathogenic, including one submicroscopic and five that could be seen on routine karyotype analysis. Four other copy number variants were likely pathogenic. The candidate genes that may explain the phenotype were discussed. In conclusion, high-resolution array comparative hybridization can be applied successfully in newborns with multiple congenital anomalies as the method detects a significant number of pathogenic changes, resulting in early diagnoses. We hypothesize that small changes previously considered benign or even inherited rearrangements should be classified as potentially pathogenic at least until a subsequent clinical assessment would exclude a developmental delay or dysmorphism.

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

PubMed

Novo-Filho, Gil M; Montenegro, Marília M; Zanardo, Évelin A; Dutra, Roberta L; Dias, Alexandre T; Piazzon, Flavia B; Costa, Taís V M M; Nascimento, Amom M; Honjo, Rachel S; Kim, Chong A; Kulikowski, Leslie D

2016-01-01

The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases. © 2016 S. Karger AG, Basel.

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies.

PubMed

Lee, Sun Ho; Song, Wung Joo

2017-09-01

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

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

PubMed

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 < 0.05. More than half of the patients had clefts of the hard palate, 18% of the lip and palate, and 13% of the lip. At least one 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.

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

PubMed

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

2014-12-01

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

Prevalence of dental anomalies in Indian population.

PubMed

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.

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

PubMed

Whittaker, Danielle E; Kasah, Sahrunizam; Donovan, Alex P A; Ellegood, Jacob; Riegman, Kimberley L H; Volk, Holger A; McGonnell, Imelda; Lerch, Jason P; Basson, M Albert

2017-12-01

Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio-temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay. © 2017 The Authors. American Journal of Medical Genetics Part C Published by Wiley Periodicals, Inc.

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

PubMed Central

Whittaker, Danielle E.; Kasah, Sahrunizam; Donovan, Alex P. A.; Ellegood, Jacob; Riegman, Kimberley L. H.; Volk, Holger A.; McGonnell, Imelda; Lerch, Jason P.

2017-01-01

Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay. PMID:29168327

Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment.

PubMed

Al-Maghribi, Hussein

2007-09-01

A retrospective study was performed on all patients with congenital adrenal hyperplasia (CAH) who were followed up at the King Hussein Medical Center (KHMC), Amman, Jordan, during the period from January 1996 to June 2006. The aim was to evaluate the clinical features, special problems, and corrective interventions for these patients. The records of 73 children (39 were genetic females and 34 were genetic males) with CAH were reviewed in the study. The age of the patients at last follow-up was between five months and 18 years. Diagnostic criteria for CAH were typical clinical features of the illness (salt loss, dehydration, virilization, macrogenitosomia, ambiguous genitalia, and accelerated growth) and typical hormonal abnormalities (decreased serum cortisol and elevated serum 17-hydroxyprogesterone). There were 62 patients with classical presentation; among them, salt-wasting (SW) form was seen in 41 patients (66%). There were 5 patients with the nonclassic form, while 6 others had cryptic presentation. Seven patients (9%) had hypertension, mostly due to salt-retaining CAH. Among the 39 females with CAH, 27 had developed mental anomalies of the external genitalia; 20 of them underwent surgical interventions of their external genitalia. Fourteen genetically female patients were wrongly diagnosed as 'male sex' at birth due to severe virilization. Seven of them were reassigned 'female sex' socially, legally, and surgically; the parents of one of them (a four-year-old girl) wanted the surgical intervention postponed for two to three years. Hysterectomy and gonadectomy were carried out for 6 of the other 7 patients who chose to keep the male gender. Our study indicates that newborns with developmental anomalies of the external genitalia should be diagnosed as early as possible so that medical, psychological, and social complications are minimized. A neonatal screening program for such a disorder can identify infants at risk for the development of life

Nonaggressive obstetric management. An option for some fetal anomalies during the third trimester.

PubMed

Chervenak, F A; McCullough, L B

1989-06-16

Nonaggressive obstetric management was used in 13 cases of anomalous fetuses during the third trimester. Criteria that define these anomalies are (1) a very high probability of a correct diagnosis and (2) either (a) a very high probability of death as an outcome of the anomaly diagnosed or (b) a very high probability of severe and irreversible deficit of cognitive developmental capacity as a result of the anomaly diagnosed. On the basis of two approaches to obstetric ethics, we defend the legitimacy of nonaggressive management of third-trimester pregnancies complicated by fetal anomalies that meet these criteria.

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

PubMed

Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

2000-08-31

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

Developmental outcome, including setback, in young children with severe visual impairment.

PubMed

Dale, Naomi; Sonksen, Patricia

2002-09-01

This study retrospectively investigated the developmental perspective of 69 children (40 males, 29 females) with 'potentially simple' congenital disorders of the peripheral visual system: development was examined in the context of degree of visual impairment. Developmental and visual assessments were carried out at 10 to 16 months (Time 1) and 27 to 54 months of age (Time 2). Participants were grouped according to (1) visual status: profound visual impairment (PVI), severe visual impairment (SVI); (2) developmental status on the Reynell-Zinkin scales. A majority of the sample showed normal development on all subscales (62% Time 1, 57% Time 2). Those with PVI were more developmentally vulnerable than SVI with a greater incidence of (1) uneven developmental profile at Time 1 (48% PVI, 16% SVI); (2) global learning difficulties at Time 2 (37% PVI, 0% SVI); (3) delay on individual subscales at Time 2 (p<0.02 PVI versus SVI); (4) deceleration (verbal comprehension 74% PVI, 24% SVI, sensorimotor understanding 70% PVI, 27% SVI); and (5) severe developmental setback (33% PVI, 7% SVI). Risk factors of visual level, age, and sex for poor developmental outcome in infants with visual impairment were established.

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

PubMed

Wong-Siegel, Jeannette R; Johnson, Kimberly J; Gettinger, Katie; Cousins, Nicole; McAmis, Nicole; Zamarione, Ashley; Druley, Todd E

2017-10-01

Congenital anomalies that are diagnosed in at least 120,000 US infants every year are the leading cause of infant death and contribute to disability and pediatric hospitalizations. Several large-scale epidemiologic studies have provided substantial evidence of an association between congenital anomalies and cancer risk in children, suggesting potential underlying cancer-predisposing conditions and the involvement of developmental genetic pathways. Electronic medical records from 1,107 pediatric, adolescent, and young adult oncology patients were reviewed. The observed number (O) of congenital anomalies among children with a specific pediatric cancer subtype was compared to the expected number (E) of anomalies based on the frequency of congenital anomalies in the entire study population. The O/E ratios were tested for significance using Fisher's exact test. The Kaplan-Meier method was used to compare overall and neurological malignancy survival rates following tumor diagnosis. Thirteen percent of patients had a congenital anomaly diagnosis prior to their cancer diagnosis. When stratified by congenital anomaly subtype, there was an excess of neurological anomalies among children with central nervous system tumors (O/E = 1.56, 95%CI 1.13-2.09). Male pediatric cancer patients were more likely than females to have a congenital anomaly, particularly those <5 years of age (O/E 1.35, 95%CI 0.97-1.82). Our study provides additional insight into the association between specific congenital anomaly types and pediatric cancer development. Moreover, it may help to inform the development of new screening policies and support hypothesis-driven research investigating mechanisms underlying tumor predisposition in children with congenital anomalies. © 2017 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Seismic data fusion anomaly detection

NASA Astrophysics Data System (ADS)

Harrity, Kyle; Blasch, Erik; Alford, Mark; Ezekiel, Soundararajan; Ferris, David

2014-06-01

Detecting anomalies in non-stationary signals has valuable applications in many fields including medicine and meteorology. These include uses such as identifying possible heart conditions from an Electrocardiography (ECG) signals or predicting earthquakes via seismographic data. Over the many choices of anomaly detection algorithms, it is important to compare possible methods. In this paper, we examine and compare two approaches to anomaly detection and see how data fusion methods may improve performance. The first approach involves using an artificial neural network (ANN) to detect anomalies in a wavelet de-noised signal. The other method uses a perspective neural network (PNN) to analyze an arbitrary number of "perspectives" or transformations of the observed signal for anomalies. Possible perspectives may include wavelet de-noising, Fourier transform, peak-filtering, etc.. In order to evaluate these techniques via signal fusion metrics, we must apply signal preprocessing techniques such as de-noising methods to the original signal and then use a neural network to find anomalies in the generated signal. From this secondary result it is possible to use data fusion techniques that can be evaluated via existing data fusion metrics for single and multiple perspectives. The result will show which anomaly detection method, according to the metrics, is better suited overall for anomaly detection applications. The method used in this study could be applied to compare other signal processing algorithms.

Development anomaly and non-vitality: Two case reports

PubMed Central

Kailasam, Sivakumar; Thangavel, Boopathi; Mathew, Sebeena; Das, Arjun Kesavan Purushotaman; Jayakodi, Harikaran; Kumaravadivel, Karthick

2012-01-01

Anatomic aberrations are seen in human dentition. The maxillary incisor region of the permanent dentition where these anatomical aberrations are commonly seen is considered an area of embryonic hazard. Aberrations affecting the internal and external morphology can at times be the cause of complex pathological conditions involving the pulpal and periodontal tissues and can pose a challenge to the clinician for the diagnosis and clinical management. Detecting and treating the anomalies at an early phase is essential as it poses a threat for the loss of vitality of the concerned teeth. The aim of this paper is to highlight the fact two different developmental anomalies of maxillary incisors, namely palatoradicular groove and Turner's hypoplasia, led to the loss of vitality of the same. PMID:23066269

Apollo experience report: Flight anomaly resolution

NASA Technical Reports Server (NTRS)

Lobb, J. D.

1975-01-01

The identification of flight anomalies, the determination of their causes, and the approaches taken for corrective action are described. Interrelationships of the broad range of disciplines involved with the complex systems and the team concept employed to ensure timely and accurate resolution of anomalies are discussed. The documentation techniques and the techniques for management of anomaly resolution are included. Examples of specific anomalies are presented in the original form of their progressive documentation. Flight anomaly resolution functioned as a part of the real-time mission support and postflight testing, and results were included in the postflight documentation.

First branchial groove anomaly.

PubMed

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.

Management of Arteriovenous Malformations Associated with Developmental Venous Anomalies: A Literature Review and Report of 2 Cases.

PubMed

Zhang, Michael; Connolly, Ian D; Teo, Mario K; Yang, George; Dodd, Robert; Marks, Michael; Zuccarello, Mario; Steinberg, Gary K

2017-10-01

Classification of cerebrovascular malformations has revealed intermediary lesions that warrant further review owing to their unusual presentation and management. We present 2 cases of arteriovenous malformation (AVM) associated with a developmental venous anomaly (DVA), and discuss the efficacy of previously published management strategies. Two cases of AVMs associated with DVA were identified, and a literature search for published cases between 1980 and 2016 was conducted. Patient demographic data and clinical features were documented. In case 1, a 29-year-old female presenting with parenchymal hemorrhage and left homonymous hemianopia was found to have a right parieto-occipital AVM fed from the anterior cerebral, middle cerebral, and posterior cerebral arteries, with major venous drainage to the superior sagittal sinus. In case 2, imaging in a 34-year-old female evaluated for night tremors and incontinence revealed a left parietal AVM with venous drainage to the superior sagittal sinus. Including our 2 cases, 22 cases of coexisting AVMs and DVAs have been reported in the literature. At presentation, 68% had radiographic evidence of hemorrhage. Stereotactic radiosurgery was performed in 7 cases, embolization in 6 cases, surgical resection in 4 cases, and multimodal therapy in 5 cases. Radiography at follow-up demonstrated successful AVM obliteration in 67% of cases (12 of 18). Patients with coexisting AVMs and DVAs tend to have a hemorrhagic presentation. Contrary to traditional AVM management, in these cases it is important to preserve the draining vein via the DVA to ensure a safe, sustained circulatory outflow of the associated brain parenchyma while achieving safe AVM obliteration. Copyright © 2017 Elsevier Inc. All rights reserved.

A developmental and genetic classification for midbrain-hindbrain malformations

PubMed Central

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

Are cleavage anomalies, multinucleation, or specific cell cycle kinetics observed with time-lapse imaging predictive of embryo developmental capacity or ploidy?

PubMed

Desai, Nina; Goldberg, Jeffrey M; Austin, Cynthia; Falcone, Tommaso

2018-04-01

To determine whether cleavage anomalies, multinucleation, and specific cellular kinetic parameters available from time-lapse imaging are predictive of developmental capacity or blastocyst chromosomal status. Retrospective analysis of prospectively collected data. Single academic center. A total of 1,478 zygotes from patients with blastocysts biopsied for preimplantation genetic screening were cultured in the EmbryoScope. Trophectoderm biopsy. Embryo dysmorphisms, developmental kinetics, and euploidy. Of the 767 biopsied blastocysts, 41.6% (95% confidence interval [CI], 38%-45%) were diagnosed as euploid. Individual dysmorphisms such as multinucleation, reverse cleavage, irregular chaotic division, or direct uneven cleavage were not associated with aneuploidy. Direct uneven cleavage and irregular chaotic division embryos did, however, exhibit lower developmental potential. The presence of two or more dysmorphisms was associated with an overall lower euploidy rate, 27.6% (95% CI 19%-39%). Early embryo kinetics were predictive of blastocyst development but not ploidy status. In contrast, chromosomal status correlated significantly with start time of blastulation (tSB), expansion (tEB), and the tEB-tSB interval. A lower euploidy rate, 36.6% (95% CI 33%-42%) was observed with tSB ≥ 96.2 hours, compared with 48.2% with tSB < 96.2 (95% CI 42%-54%). A drop in euploidy rate to 30% (95% CI 25%-37%) was observed in blastocysts with delayed expansion (tEB > 116). The proportion of euploid blastocysts was increased with tEB-tSB intervals of ≤13 hours. A logistic regression model to enhance the probability of selecting a euploid blastocyst was constructed. Morphokinetics may aid in selection of euploid embryos from a cohort of day 5/6 blastocysts. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort.

PubMed

Timonen-Soivio, Laura; Vanhala, Raija; Malm, Heli; Leivonen, Susanna; Jokiranta, Elina; Hinkka-Yli-Salomäki, Susanna; Gissler, Mika; Brown, Alan S; Sourander, Andre

2015-01-01

The first aim of this study was to evaluate the association between different subgroups of autism spectrum disorders (ASDs) (childhood autism, Asperger syndrome, and pervasive developmental disorder/pervasive developmental disorder - not otherwise specified [PDD/PDD-NOS]) and congenital anomalies. Second, we assessed the association among intellectually disabled children with ASDs in the subgroups of childhood autism and PDD/PDD-NOS. Nationwide population-based register data for children with a diagnosis of ASD (n=4449; 3548 males, 901 females) were collected during years 1987-2000 from the Finnish Hospital Discharge Register. Data on congenital anomalies were derived from the National Register of Congenital Malformations. Conditional logistic regression models were used as a statistical method. The association between ASD subgroups and congenital anomalies was stratified by the presence or absence of intellectual disability. Congenital anomalies occurred more frequently in all subgroups of ASD than in comparison participants (adjusted odds ratio [OR] for major congenital anomalies 1.8, 95% confidence interval [CI] 1.5-2.2, p<0.001). The association between congenital anomalies and childhood autism (OR 2.4, 95% CI 1.6-3.6, p<0.001) and between congenital anomalies and PDD/PDD-NOS (OR 3.7, 95% CI 2.4-5.7, p<0.001) among children with an intellectual disability was strong but remained significant also without intellectual disability (childhood autism: OR 1.7, 95% CI 1.3-2.3, p<0.001; PDD/PDD-NOS: OR 2.3, 95% CI 1.9-2.8, p<0.001). The results suggest a significant association between ASDs and congenital anomalies regardless of the ASD subgroup. The association between childhood autism and PDD/PDD-NOS and congenital anomalies is stronger among children with intellectual disability is stronger than among those without intellectual disability. These results may have relevance in examining early risk factors in autism during fetal neurodevelopment. © 2014 Mac Keith Press.

Developmental dyslexia and vision

PubMed Central

Quercia, Patrick; Feiss, Léonard; Michel, Carine

2013-01-01

Developmental dyslexia affects almost 10% of school-aged children and represents a significant public health problem. Its etiology is unknown. The consistent presence of phonological difficulties combined with an inability to manipulate language sounds and the grapheme–phoneme conversion is widely acknowledged. Numerous scientific studies have also documented the presence of eye movement anomalies and deficits of perception of low contrast, low spatial frequency, and high frequency temporal visual information in dyslexics. Anomalies of visual attention with short visual attention spans have also been demonstrated in a large number of cases. Spatial orientation is also affected in dyslexics who manifest a preference for spatial attention to the right. This asymmetry may be so pronounced that it leads to a veritable neglect of space on the left side. The evaluation of treatments proposed to dyslexics whether speech or oriented towards the visual anomalies remains fragmentary. The advent of new explanatory theories, notably cerebellar, magnocellular, or proprioceptive, is an incentive for ophthalmologists to enter the world of multimodal cognition given the importance of the eye’s visual input. PMID:23690677

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

PubMed

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.

Global Surface Solar Energy Anomalies Including El Nino and La Nina Years

NASA Technical Reports Server (NTRS)

Whitlock, C. H.; Brown, D. E.; Chandler, W. S.; DiPasquale, R. C.; Ritchey, Nancy A.; Gupta, Shashi K.; Wilber, Anne C.; Kratz, David P.; Stackhouse, Paul W.

2001-01-01

This paper synthesizes past events in an attempt to define the general magnitude, duration, and location of large surface solar anomalies over the globe. Surface solar energy values are mostly a function of solar zenith angle, cloud conditions, column atmospheric water vapor, aerosols, and surface albedo. For this study, solar and meteorological parameters for the 10-yr period July 1983 through June 1993 are used. These data were generated as part of the Release 3 Surface meteorology and Solar Energy (SSE) activity under the NASA Earth Science Enterprise (ESE) effort. Release 3 SSE uses upgraded input data and methods relative to previous releases. Cloud conditions are based on recent NASA Version-D International Satellite Cloud Climatology Project (ISCCP) global satellite radiation and cloud data. Meteorological inputs are from Version-I Goddard Earth Observing System (GEOS) reanalysis data that uses both weather station and satellite information. Aerosol transmission for different regions and seasons are for an 'average' year based on historic solar energy data from over 1000 ground sites courtesy of Natural Resources Canada (NRCan). These data are input to a new Langley Parameterized Shortwave Algorithm (LPSA) that calculates surface albedo and surface solar energy. That algorithm is an upgraded version of the 'Staylor' algorithm. Calculations are performed for a 280X280 km equal-area grid system over the globe based on 3-hourly input data. A bi-linear interpolation process is used to estimate data output values on a 1 X 1 degree grid system over the globe. Maximum anomalies are examined relative to El Nino and La Nina events in the tropical Pacific Ocean. Maximum year-to-year anomalies over the globe are provided for a 10-year period. The data may assist in the design of systems with increased reliability. It may also allow for better planning for emergency assistance during some atypical events.

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

PubMed Central

2016-01-01

Background 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. Material and Methods 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. Results 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%). Conclusions 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. PMID:27957258

Hard to Swallow: Developmental Biological Insights into Pediatric Dysphagia

PubMed Central

LaMantia, Anthony-Samuel; Moody, Sally A.; Maynard, Thomas M.; Karpinski, Beverly A.; Zohn, Irene E.; Mendelowitz, David; Lee, Norman H.; Popratiloff, Anastas

2015-01-01

Pediatric dysphagia—feeding and swallowing difficulties that begin at birth, last throughout childhood, and continue into maturity—is one of the most common, least understood complications in children with developmental disorders. We argue that a major cause of pediatric dysphagia is altered hindbrain patterning during pre-natal development. Such changes can compromise craniofacial structures including oropharyngeal muscles and skeletal elements as well as motor and sensory circuits necessary for normal feeding and swallowing. Animal models of developmental disorders that include pediatric dysphagia in their phenotypic spectrum can provide mechanistic insight into pathogenesis of feeding and swallowing difficulties. A fairly common human genetic developmental disorder, DiGeorge/22q11.2 Deletion Syndrome (22q11DS) includes a substantial incidence of pediatric dysphagia in its phenotypic spectrum. Infant mice carrying a parallel deletion to 22q11DS patients have feeding and swallowing difficulties. Altered hindbrain patterning, neural crest migration, craniofacial malformations, and changes in cranial nerve growth prefigure these difficulties. Thus, in addition to craniofacial and pharyngeal anomalies that arise independently of altered neural development, pediatric dysphagia may reflect disrupted hindbrain patterning and its impact on neural circuit development critical for feeding and swallowing. The mechanisms that disrupt hindbrain patterning and circuitry may provide a foundation to develop novel therapeutic approaches for improved clinical management of pediatric dysphagia. PMID:26554723

Branchial anomalies in children.

PubMed

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

Associated anomalies in cases with esophageal atresia.

PubMed

Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

2017-08-01

Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA. © 2017 Wiley Periodicals, Inc.

DEVELOPMENTAL TOXICOLOGY EVALUATIONS -- ISSUES WITH INCLUDING NEUROTOXICOLOGY AND IMMUNOTOXICOLOGY ASSESSMENTS IN REPRODUCTIVE TOXICOLOGY STUDIES

EPA Science Inventory

Developmental and reproductive toxixology (DART) has routinely been a part of safety assessment. Attention is now focused on the effects of chemicals on the developing nervous and immune systems. This focus on developmental neurotoxicology (DNT) and developmental immunotoxicolo...

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

PubMed

Pedace, Lucia; Castori, Marco; Binni, Francesco; Pingi, Alberto; Grammatico, Barbara; Scommegna, Salvatore; Majore, Silvia; Grammatico, Paola

2009-01-01

Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

PubMed

Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

2018-01-01

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

ISHM Anomaly Lexicon for Rocket Test

NASA Technical Reports Server (NTRS)

Schmalzel, John L.; Buchanan, Aubri; Hensarling, Paula L.; Morris, Jonathan; Turowski, Mark; Figueroa, Jorge F.

2007-01-01

Integrated Systems Health Management (ISHM) is a comprehensive capability. An ISHM system must detect anomalies, identify causes of such anomalies, predict future anomalies, help identify consequences of anomalies for example, suggested mitigation steps. The system should also provide users with appropriate navigation tools to facilitate the flow of information into and out of the ISHM system. Central to the ability of the ISHM to detect anomalies is a clearly defined catalog of anomalies. Further, this lexicon of anomalies must be organized in ways that make it accessible to a suite of tools used to manage the data, information and knowledge (DIaK) associated with a system. In particular, it is critical to ensure that there is optimal mapping between target anomalies and the algorithms associated with their detection. During the early development of our ISHM architecture and approach, it became clear that a lexicon of anomalies would be important to the development of critical anomaly detection algorithms. In our work in the rocket engine test environment at John C. Stennis Space Center, we have access to a repository of discrepancy reports (DRs) that are generated in response to squawks identified during post-test data analysis. The DR is the tool used to document anomalies and the methods used to resolve the issue. These DRs have been generated for many different tests and for all test stands. The result is that they represent a comprehensive summary of the anomalies associated with rocket engine testing. Fig. 1 illustrates some of the data that can be extracted from a DR. Such information includes affected transducer channels, narrative description of the observed anomaly, and the steps used to correct the problem. The primary goal of the anomaly lexicon development efforts we have undertaken is to create a lexicon that could be used in support of an associated health assessment database system (HADS) co-development effort. There are a number of significant

Anomaly Resolution in the International Space Station

NASA Technical Reports Server (NTRS)

Evans, William A.

2000-01-01

Topics include post flight 2A status, groundrules, anomaly resolution, Early Communications Subsystem anomaly and resolution, Logistics and Maintenance plan, case for obscuration, case for electrical short, and manual fault isolation, and post mission analysis. Photographs from flight 2A.1 are used to illustrate anomalies.

The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.

PubMed

He, Wenyin; Sun, Xiaofang; Liu, Lian; Li, Man; Jin, Hua; Wang, Wei-Hua

2014-01-01

Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid blastocysts have clinical significance. In this study, we analyzed 15 previously diagnosed euploid blastocysts that had chromosomal deletion(s) using Agilent oligonucleotide DNA microarray platform and localized the gene location in each deletion. Then, we used OMIM gene map and phenotype database to investigate if these deletions are related with some important genes that cause genetic diseases, especially developmental delay or intellectual disability. As results, we found that the detectable chromosomal deletion size with Agilent microarray is above 2.38 Mb, while the deletions observed in human blastocysts are between 11.6 to 103 Mb. With OMIM gene map and phenotype database information, we found that deletions can result in loss of 81-464 genes. Out of these genes, 34-149 genes are related with known genetic problems. Furthermore, we found that 5 out of 15 samples lost genes in the deleted region, which were related to developmental delay and/or intellectual disability. In conclusion, our data indicates that all human euploid blastocysts with chromosomal deletion(s) are abnormal and transfer of these embryos may cause birth defects and/or developmental and intellectual disabilities. Therefore, the embryos with chromosomal deletion revealed by DNA microarray should not be transferred to the patients, or further gene map and/or phenotype seeking is necessary before making a final decision.

Migraine and circle of Willis anomalies.

PubMed

Cucchiara, Brett; Detre, John

2008-01-01

Several mechanisms are currently thought to contribute to migraine pathogenesis, including interictal neuronal hyperexcitability, cortical spreading depression underlying the symptom of aura, and trigeminal nerve activation at a peripheral and central level. However, these mechanistic concepts incompletely explain migraine susceptibility in individual patients and do not fully account for the well documented association between migraine and ischemic cerebrovascular disease, including increased risk of both clinical stroke and subclinical brain lesions in migraine patients. The circle of Willis is a major source of collateral blood flow supply in the human brain, and developmental morphologic variants of the circle of Willis are extremely frequent. Altered cerebral blood flow (CBF) has been demonstrated in regions supplied by variant circle of Willis vessels. Our central hypothesis is that circle of Willis anomalies correlate with alterations in cerebral hemodynamics and contribute to migraine susceptibility and ischemic complications of migraine. Dysregulation of CBF may allow relative ischemia to develop in the setting of increased metabolic demand related to neuronal hyperexcitability, may trigger cortical spreading depression, and may predispose individuals with migraine to ischemic lesions and stroke. Identification of structural alterations in the cerebral vasculature in migraine patients would have several important pathophysiological and clinical implications. First, it would provide a developmental mechanism for migraine susceptibility that may lead to further insights into genetic predisposition to migraine. Second, it would expand understanding of potential mechanisms underlying migraine aura and linking migraine with both clinical and subclinical cerebral infarction. Third, it could help to identify the subpopulation of patients at risk of progressive cerebral ischemia so as to target preventative therapies appropriately. Fourth, it would suggest a role

Bangui Anomaly

NASA Technical Reports Server (NTRS)

Taylor, Patrick T.

2004-01-01

Bangui anomaly is the name given to one of the Earth s largest crustal magnetic anomalies and the largest over the African continent. It covers two-thirds of the Central African Republic and therefore the name derives from the capitol city-Bangui that is also near the center of this feature. From surface magnetic survey data Godivier and Le Donche (1962) were the first to describe this anomaly. Subsequently high-altitude world magnetic surveying by the U.S. Naval Oceanographic Office (Project Magnet) recorded a greater than 1000 nT dipolar, peak-to-trough anomaly with the major portion being negative (figure 1). Satellite observations (Cosmos 49) were first reported in 1964, these revealed a 40nT anomaly at 350 km altitude. Subsequently the higher altitude (417-499km) POGO (Polar Orbiting Geomagnetic Observatory) satellite data recorded peak-to-trough anomalies of 20 nT these data were added to Cosmos 49 measurements by Regan et al. (1975) for a regional satellite altitude map. In October 1979, with the launch of Magsat, a satellite designed to measure crustal magnetic anomalies, a more uniform satellite altitude magnetic map was obtained. These data, computed at 375 km altitude recorded a -22 nT anomaly (figure 2). This elliptically shaped anomaly is approximately 760 by 1000 km and is centered at 6%, 18%. The Bangui anomaly is composed of three segments; there are two positive anomalies lobes north and south of a large central negative field. This displays the classic pattern of a magnetic anomalous body being magnetized by induction in a zero inclination field. This is not surprising since the magnetic equator passes near the center of this body.

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

PubMed

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.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

PubMed

Lee, Jin Sook; Hwang, Hee; Kim, Soo Yeon; Kim, Ki Joong; Choi, Jin Sun; Woo, Mi Jung; Choi, Young Min; Jun, Jong Kwan; Lim, Byung Chan; Chae, Jong Hee

2018-09-01

Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability. © The Korean Society for Laboratory Medicine.

CSAX: Characterizing Systematic Anomalies in eXpression Data.

PubMed

Noto, Keith; Majidi, Saeed; Edlow, Andrea G; Wick, Heather C; Bianchi, Diana W; Slonim, Donna K

2015-05-01

Methods for translating gene expression signatures into clinically relevant information have typically relied upon having many samples from patients with similar molecular phenotypes. Here, we address the question of what can be done when it is relatively easy to obtain healthy patient samples, but when abnormalities corresponding to disease states may be rare and one-of-a-kind. The associated computational challenge, anomaly detection, is a well-studied machine-learning problem. However, due to the dimensionality and variability of expression data, existing methods based on feature space analysis or individual anomalously expressed genes are insufficient. We present a novel approach, CSAX, that identifies pathways in an individual sample in which the normal expression relationships are disrupted. To evaluate our approach, we have compiled and released a compendium of public expression data sets, reformulated to create a test bed for anomaly detection. We demonstrate the accuracy of CSAX on the data sets in our compendium, compare it to other leading methods, and show that CSAX aids in both identifying anomalies and explaining their underlying biology. We describe an approach to characterizing the difficulty of specific expression anomaly detection tasks. We then illustrate CSAX's value in two developmental case studies. Confirming prior hypotheses, CSAX highlights disruption of platelet activation pathways in a neonate with retinopathy of prematurity and identifies, for the first time, dysregulated oxidative stress response in second trimester amniotic fluid of fetuses with obese mothers. Our approach provides an important step toward identification of individual disease patterns in the era of precision medicine.

CSAX: Characterizing Systematic Anomalies in eXpression Data

PubMed Central

Noto, Keith; Majidi, Saeed; Edlow, Andrea G.; Wick, Heather C.; Bianchi, Diana W.

2015-01-01

Abstract Methods for translating gene expression signatures into clinically relevant information have typically relied upon having many samples from patients with similar molecular phenotypes. Here, we address the question of what can be done when it is relatively easy to obtain healthy patient samples, but when abnormalities corresponding to disease states may be rare and one-of-a-kind. The associated computational challenge, anomaly detection, is a well-studied machine-learning problem. However, due to the dimensionality and variability of expression data, existing methods based on feature space analysis or individual anomalously expressed genes are insufficient. We present a novel approach, CSAX, that identifies pathways in an individual sample in which the normal expression relationships are disrupted. To evaluate our approach, we have compiled and released a compendium of public expression data sets, reformulated to create a test bed for anomaly detection. We demonstrate the accuracy of CSAX on the data sets in our compendium, compare it to other leading methods, and show that CSAX aids in both identifying anomalies and explaining their underlying biology. We describe an approach to characterizing the difficulty of specific expression anomaly detection tasks. We then illustrate CSAX's value in two developmental case studies. Confirming prior hypotheses, CSAX highlights disruption of platelet activation pathways in a neonate with retinopathy of prematurity and identifies, for the first time, dysregulated oxidative stress response in second trimester amniotic fluid of fetuses with obese mothers. Our approach provides an important step toward identification of individual disease patterns in the era of precision medicine. PMID:25651392

Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-β2 signaling

PubMed Central

Iwao, Keiichiro; Inatani, Masaru; Matsumoto, Yoshihiro; Ogata-Iwao, Minako; Takihara, Yuji; Irie, Fumitoshi; Yamaguchi, Yu; Okinami, Satoshi; Tanihara, Hidenobu

2009-01-01

During human embryogenesis, neural crest cells migrate to the anterior chamber of the eye and then differentiate into the inner layers of the cornea, the iridocorneal angle, and the anterior portion of the iris. When proper development does not occur, this causes iridocorneal angle dysgenesis and intraocular pressure (IOP) elevation, which ultimately results in developmental glaucoma. Here, we show that heparan sulfate (HS) deficiency in mouse neural crest cells causes anterior chamber dysgenesis, including corneal endothelium defects, corneal stroma hypoplasia, and iridocorneal angle dysgenesis. These dysfunctions are phenotypes of the human developmental glaucoma, Peters anomaly. In the neural crest cells of mice embryos, disruption of the gene encoding exostosin 1 (Ext1), which is an indispensable enzyme for HS synthesis, resulted in disturbed TGF-β2 signaling. This led to reduced phosphorylation of Smad2 and downregulated expression of forkhead box C1 (Foxc1) and paired-like homeodomain transcription factor 2 (Pitx2), transcription factors that have been identified as the causative genes for developmental glaucoma. Furthermore, impaired interactions between HS and TGF-β2 induced developmental glaucoma, which was manifested as an IOP elevation caused by iridocorneal angle dysgenesis. These findings suggest that HS is necessary for neural crest cells to form the anterior chamber via TGF-β2 signaling. Disturbances of HS synthesis might therefore contribute to the pathology of developmental glaucoma. PMID:19509472

Vascular anomalies of the head and neck: a review of genetics.

PubMed

Yadav, Prashant; De Castro, Dawn K; Waner, Milton; Meyer, Lutz; Fay, Aaron

2013-01-01

Vascular anomalies comprise malformations, hemangiomas, and rare tumors. The commonality among these lesions is their origin in vascular endothelia. Most occur sporadically, but occasional inheritance is observed and thus allows genetic research and insight into etiology. This review highlights those vascular anomalies in which genetic inheritance has been demonstrated. A comprehensive literature search was performed on PubMed. Fifty-five full-length articles were reviewed. Five categories of vascular anomalies with patterned inheritance were identified: arteriovenous malformation (AVM), capillary malformation (CM), lymphatic malformation (LM), venous malformation (VM), and infantile hemangioma (IH). Capillary and arteriovenous malformation subtypes are associated with a RASA-1 gene mutation and show autosomal dominant inheritance. VEGFR3 mutations have been associated with generalized forms of LM and lymphedema. Mutations in TIE2/TEK genes cause inherited forms of venous malformations also with autosomal dominant inheritance. Familial clustering and atopic disease are associated with infantile hemangioma, and gene expression varies with the developmental stage of these lesions. Most vascular anomalies occur sporadically, but several genes and genetic disorders have been associated with them. Specific forms of capillary malformation appear to be most convincingly associated with genomic errors. Further research promises new insights into the development of this diverse group of disorders.

Developmental Disabilities Prevention and the Distribution of Risk among American Indians.

ERIC Educational Resources Information Center

Mendola, Pauline; And Others

1994-01-01

Compared to the U.S. general population, American Indian children experience a smaller proportion of genetic and congenital anomalies associated with developmental disabilities and greater risk associated with prenatal exposure to alcohol and tobacco, maternal diabetes, and disabling sequelae of accidents and otitis media. Prevention efforts…

Rapidly convergent quasi-periodic Green functions for scattering by arrays of cylinders—including Wood anomalies

PubMed Central

Fernandez-Lado, Agustin G.

2017-01-01

This paper presents a full-spectrum Green-function methodology (which is valid, in particular, at and around Wood-anomaly frequencies) for evaluation of scattering by periodic arrays of cylinders of arbitrary cross section—with application to wire gratings, particle arrays and reflectarrays and, indeed, general arrays of conducting or dielectric bounded obstacles under both transverse electric and transverse magnetic polarized illumination. The proposed method, which, for definiteness, is demonstrated here for arrays of perfectly conducting particles under transverse electric polarization, is based on the use of the shifted Green-function method introduced in a recent contribution (Bruno & Delourme 2014 J. Computat. Phys. 262, 262–290 (doi:10.1016/j.jcp.2013.12.047)). A certain infinite term arises at Wood anomalies for the cylinder-array problems considered here that is not present in the previous rough-surface case. As shown in this paper, these infinite terms can be treated via an application of ideas related to the Woodbury–Sherman–Morrison formulae. The resulting approach, which is applicable to general arrays of obstacles even at and around Wood-anomaly frequencies, exhibits fast convergence and high accuracies. For example, a few hundreds of milliseconds suffice for the proposed approach to evaluate solutions throughout the resonance region (wavelengths comparable to the period and cylinder sizes) with full single-precision accuracy. PMID:28413346

Rapidly convergent quasi-periodic Green functions for scattering by arrays of cylinders-including Wood anomalies.

PubMed

Bruno, Oscar P; Fernandez-Lado, Agustin G

2017-03-01

This paper presents a full-spectrum Green-function methodology (which is valid, in particular, at and around Wood-anomaly frequencies) for evaluation of scattering by periodic arrays of cylinders of arbitrary cross section-with application to wire gratings, particle arrays and reflectarrays and, indeed, general arrays of conducting or dielectric bounded obstacles under both transverse electric and transverse magnetic polarized illumination. The proposed method, which, for definiteness, is demonstrated here for arrays of perfectly conducting particles under transverse electric polarization, is based on the use of the shifted Green-function method introduced in a recent contribution (Bruno & Delourme 2014 J. Computat. Phys. 262 , 262-290 (doi:10.1016/j.jcp.2013.12.047)). A certain infinite term arises at Wood anomalies for the cylinder-array problems considered here that is not present in the previous rough-surface case. As shown in this paper, these infinite terms can be treated via an application of ideas related to the Woodbury-Sherman-Morrison formulae. The resulting approach, which is applicable to general arrays of obstacles even at and around Wood-anomaly frequencies, exhibits fast convergence and high accuracies. For example, a few hundreds of milliseconds suffice for the proposed approach to evaluate solutions throughout the resonance region (wavelengths comparable to the period and cylinder sizes) with full single-precision accuracy.

Developmental Toxicology##

EPA Science Inventory

Developmental toxicology encompasses the study of developmental exposures, pharmacokinetics, mechanisms, pathogenesis, and outcomes potentially leading to adverse health effects. Manifestations of developmental toxicity include structural malformations, growth retardation, functi...

Hamiltonian Anomalies from Extended Field Theories

NASA Astrophysics Data System (ADS)

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.

Congenital anomalies in infants conceived by assisted reproductive techniques.

PubMed

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

PubMed

Wieczorek, Dagmar; Gener, Blanca; González, Ma Jesús Martínez; Seland, Saskia; Fischer, Sven; Hehr, Ute; Kuechler, Alma; Hoefsloot, Lies H; de Leeuw, Nicole; Gillessen-Kaesbach, Gabriele; Lohmann, Dietmar R

2009-05-01

Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.

The Compact Environmental Anomaly Sensor (CEASE) III

NASA Astrophysics Data System (ADS)

Roddy, P.; Hilmer, R. V.; Ballenthin, J.; Lindstrom, C. D.; Barton, D. A.; Ignazio, J. M.; Coombs, J. M.; Johnston, W. R.; Wheelock, A. T.; Quigley, S.

2016-12-01

The Air Force Research Laboratory's Energetic Charged Particle (ECP) sensor project is a comprehensive effort to measure the charged particle environment that causes satellite anomalies. The project includes the Compact Environmental Anomaly Sensor (CEASE) III, building on the flight heritage of prior CEASE designs. CEASE III consists of multiple sensor modules. High energy particles are observed using independent unique silicon detector stacks. In addition CEASE III includes an electrostatic analyzer (ESA) assembly which uses charge multiplication for particle detection. The sensors cover a wide range of proton and electron energies that contribute to satellite anomalies.

Multidetector Computed Tomography for Congenital Anomalies of the Aortic Arch: Vascular Rings.

PubMed

García-Guereta, Luis; García-Cerro, Estefanía; Bret-Zurita, Montserrat

2016-07-01

The development of multidetector computed tomography has triggered a revolution in the study of the aorta and other large vessels and has replaced angiography in the diagnosis of congenital anomalies of the aortic arch, particularly vascular rings. The major advantage of multidetector computed tomography is that it permits clear 3-dimensional assessment of not only vascular structures, but also airway and esophageal compression. The current update aims to summarize the embryonic development of the aortic arch and the developmental anomalies leading to vascular ring formation and to discuss the current diagnostic and therapeutic role of multidetector computed tomography in this field. Copyright © 2016 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective

PubMed Central

Verghese, Renjan; Paul, Divyan

2015-01-01

Absent circle of Willis (COW) has been described in cases of severe forms of cerebral developmental anomalies such as alobar prosencephaly. However, there are no reports of absent COW in patients with a milder form of cerebral abnormality such as colpocephaly. We report a unique case of an adult with colpocephaly and absent COW and discuss their association from a developmental perspective. PMID:26443299

Penile anomalies in adolescence.

PubMed

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.

Developmental mechanisms underlying variation in craniofacial disease and evolution.

PubMed

Fish, Jennifer L

2016-07-15

Craniofacial disease phenotypes exhibit significant variation in penetrance and severity. Although many genetic contributions to phenotypic variation have been identified, genotype-phenotype correlations remain imprecise. Recent work in evolutionary developmental biology has exposed intriguing developmental mechanisms that potentially explain incongruities in genotype-phenotype relationships. This review focuses on two observations from work in comparative and experimental animal model systems that highlight how development structures variation. First, multiple genetic inputs converge on relatively few developmental processes. Investigation of when and how variation in developmental processes occurs may therefore help predict potential genetic interactions and phenotypic outcomes. Second, genetic mutation is typically associated with an increase in phenotypic variance. Several models outlining developmental mechanisms underlying mutational increases in phenotypic variance are discussed using Satb2-mediated variation in jaw size as an example. These data highlight development as a critical mediator of genotype-phenotype correlations. Future research in evolutionary developmental biology focusing on tissue-level processes may help elucidate the "black box" between genotype and phenotype, potentially leading to novel treatment, earlier diagnoses, and better clinical consultations for individuals affected by craniofacial anomalies. Copyright © 2015 Elsevier Inc. All rights reserved.

Prevalence of Gastrointestinal Disorders in Adult Clients with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Galli-Carminati, G.; Chauvet, I.; Deriaz, N.

2006-01-01

Background: In clients with pervasive developmental disorders (PDD), some authors have noticed the presence of gastrointestinal disorders and behavioural disorders. An augmented prevalence of different histological anomalies has also been reported. The aim of our study is to highlight the prevalence of gastrointestinal disorders in this adult with…

Skeletal anomaly assessment in diploid and triploid juvenile Atlantic salmon (Salmo salar L.) and the effect of temperature in freshwater.

PubMed

Amoroso, G; Adams, M B; Ventura, T; Carter, C G; Cobcroft, J M

2016-04-01

Triploid Atlantic salmon tend to develop a higher prevalence of skeletal anomalies. This tendency may be exacerbated by an inadequate rearing temperature. Early juvenile all-female diploid and triploid Atlantic salmon were screened for skeletal anomalies in consecutive experiments to include two size ranges: the first tested the effect of ploidy (0.2-8 g) and the second the effect of ploidy, temperature (14 °C and 18 °C) and their interaction (8-60 g). The first experiment showed that ploidy had no effect on skeletal anomaly prevalence. A high prevalence of opercular shortening was observed (average prevalence in both ploidies 85.8%) and short lower jaws were common (highest prevalence observed 11.3%). In the second experiment, ploidy, but not temperature, affected the prevalence of short lower jaw (diploids > triploids) and lower jaw deformity (triploids > diploids, highest prevalence observed 11.1% triploids and 2.7% diploids) with a trend indicating a possible developmental link between the two jaw anomalies in triploids. A radiological assessment (n = 240 individuals) showed that at both temperatures triploids had a significantly (P < 0.05) lower number of vertebrae and higher prevalence of deformed individuals. These findings (second experiment) suggest ploidy was more influential than temperature in this study. © 2016 John Wiley & Sons Ltd.

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PubMed

Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

2003-11-01

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

PubMed Central

Burdon, Kathryn P.; McKay, James D.; Sale, Michèle M.; Russell-Eggitt, Isabelle M.; Mackey, David A.; Wirth, M. Gabriela; Elder, James E.; Nicoll, Alan; Clarke, Michael P.; FitzGerald, Liesel M.; Stankovich, James M.; Shaw, Marie A.; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K.; Thomas, Tim; Gécz, Jozef; Craig, Jamie E.

2003-01-01

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called “NHS,” in five families. The NHS gene encompasses ∼650 kb of genomic DNA, coding for a 1,630–amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development. PMID:14564667

Anomaly-free models for flavour anomalies

NASA Astrophysics Data System (ADS)

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.

Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant.

PubMed

Donahue, M L; Ryan, R M

1995-03-13

We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome.

SUPERNUMERARY RIBS IN DEVELOPMENTAL TOXICITY BIOASSAYS AND IN HUMAN POPULATIONS: INCIDENCE AND BIOLOGICAL SIGNIFICANCE

EPA Science Inventory

Abstract
Supernumerary or accessory ribs (SNR), either lumbar (LSNR) or cervical (CSNR) are a common finding in standard developmental toxicology bioassays. The biological significance of these anomalies within the regulatory arena has been problematic and the subject of some...

Using the Patient Reported Outcomes Measurement Information System to Evaluate Psychosocial Functioning among Children with Craniofacial Anomalies.

PubMed

Shapiro, Danielle N; Waljee, Jennifer; Ranganathan, Kavitha; Buchman, Steven; Warschausky, Seth

2015-06-01

Children with craniofacial anomalies are at risk for social exclusion, bullying, and psychological symptoms, all of which are associated with poor developmental and health outcomes. The National Institutes of Health-developed Patient Reported Outcomes Measurement Information System instruments may be useful tools for monitoring psychosocial functioning in clinical settings and for integrating patient and parent perspectives. The current study included 74 children (50 percent male) with craniofacial anomalies recruited through a multidisciplinary clinic. The authors obtained child self-report and parent-proxy ratings of depression, anxiety, and peer relationship quality using National Institutes of Health Patient Reported Outcomes Measurement Information System instruments. The authors compared sample means to Patient Reported Outcomes Measurement Information System instruments norms and analyzed the reliability of parents' and children's reporting of psychosocial variables. All reliability statistics were satisfactory (α values ranging from 0.74 to 0.96) and sample standard deviations were similar to those obtained in a general population, suggesting that Patient Reported Outcomes Measurement Information System instruments are reliable among children with craniofacial anomalies. In general, children and parents did not report unusual levels of psychological distress; however, they did report poorer peer relationship quality relative to normed data, a trend that was particularly pronounced among boys. National Institutes of Health Patient Reported Outcomes Measurement Information System instruments are efficient and accurate tools for monitoring psychosocial adjustment among children with craniofacial anomalies. It may be especially important to monitor social functioning, particularly among boys.

Tectonically Induced Anomalies Without Large Earthquake Occurrences

NASA Astrophysics Data System (ADS)

Shi, Zheming; Wang, Guangcai; Liu, Chenglong; Che, Yongtai

2017-06-01

In this study, we documented a case involving large-scale macroscopic anomalies in the Xichang area, southwestern Sichuan Province, China, from May to June of 2002, after which no major earthquake occurred. During our field survey in 2002, we found that the timing of the high-frequency occurrence of groundwater anomalies was in good agreement with those of animal anomalies. Spatially, the groundwater and animal anomalies were distributed along the Anninghe-Zemuhe fault zone. Furthermore, the groundwater level was elevated in the northwest part of the Zemuhe fault and depressed in the southeast part of the Zemuhe fault zone, with a border somewhere between Puge and Ningnan Counties. Combined with microscopic groundwater, geodetic and seismic activity data, we infer that the anomalies in the Xichang area were the result of increasing tectonic activity in the Sichuan-Yunnan block. In addition, groundwater data may be used as a good indicator of tectonic activity. This case tells us that there is no direct relationship between an earthquake and these anomalies. In most cases, the vast majority of the anomalies, including microscopic and macroscopic anomalies, are caused by tectonic activity. That is, these anomalies could occur under the effects of tectonic activity, but they do not necessarily relate to the occurrence of earthquakes.

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.

PubMed

Sadick, Maliha; Müller-Wille, René; Wildgruber, Moritz; Wohlgemuth, Walter A

2018-06-06

 Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities.  A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented. The vast spectrum of diagnostic modalities, ranging from ultrasound with color Doppler, conventional X-ray, CT with 4 D imaging and MRI as well as catheter angiography for appropriate assessment is discussed.  Congenital vascular anomalies are comprised of vascular tumors, based on endothelial cell proliferation and vascular malformations with underlying mesenchymal and angiogenetic disorder. Vascular tumors tend to regress with patient's age, vascular malformations increase in size and are subdivided into capillary, venous, lymphatic, arterio-venous and combined malformations, depending on their dominant vasculature. According to their appearance, venous malformations are the most common representative of vascular anomalies (70 %), followed by lymphatic malformations (12 %), arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).  The aim is to provide an overview of the current classification system and diagnostic characterization of vascular anomalies in order to facilitate interdisciplinary management of vascular anomalies.   · Vascular anomalies are comprised of vascular tumors and vascular malformations, both considered to be rare diseases.. · Appropriate treatment depends on correct classification and diagnosis of vascular anomalies, which is based on established national and international classification systems, recommendations and guidelines.. · In the classification

Endocrine disruptors: from Wingspread to environmental developmental biology.

PubMed

Markey, Caroline M; Rubin, Beverly S; Soto, Ana M; Sonnenschein, Carlos

2002-12-01

The production and release of synthetic chemicals into the environment has been a hallmark of the "Second Industrial Revolution" and the "Green Revolution." Soon after the inception of these chemicals, anecdotal evidence began to emerge linking environmental contamination of rivers and lakes with a variety of developmental and reproductive abnormalities in wildlife species. The accumulation of evidence suggesting that these synthetic chemicals were detrimental to wildlife, and potentially humans, as a result of their hormonal activity, led to the proposal of the endocrine disruptor hypothesis at the 1991 Wingspread Conference. Since that time, experimental and epidemiological data have shown that exposure of the developing fetus or neonate to environmentally-relevant concentrations of certain synthetic chemicals causes morphological, biochemical, physiological and behavioral anomalies in both vertebrate and invertebrate species. The ubiquitous use, and subsequent human exposure, of one particular chemical, the estrogen mimic bisphenol A (BPA), is the subject of this present review. We have highlighted this chemical since it provides an arresting model of how chemical exposure impacts developmental processes involved in the morphogenesis of tissues and organs, including those of the male and female reproductive systems, the mammary glands and the brain.

Prevalence of dental anomalies in Saudi orthodontic patients.

PubMed

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.

Coronary Artery Anomalies in Animals

PubMed Central

Scansen, Brian A.

2017-01-01

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. PMID:29056679

Neuroanatomical anomalies of dyslexia: Disambiguating the effects of disorder, performance, and maturation.

PubMed

Xia, Zhichao; Hoeft, Fumiko; Zhang, Linjun; Shu, Hua

2016-01-29

An increasing body of studies has revealed neuroanatomical impairments in developmental dyslexia. However, whether these structural anomalies are driven by dyslexia (disorder-specific effects), absolute reading performance (performance-dependent effects), and/or further influenced by age (maturation-sensitive effects) remains elusive. To help disentangle these sources, the current study used a novel disorder (dyslexia vs. control) by maturation (younger vs. older) factorial design in 48 Chinese children who were carefully matched. This design not only allows for direct comparison between dyslexics versus controls matched for chronological age and reading ability, but also enables examination of the influence of maturation and its interaction with dyslexia. Voxel-based morphometry (VBM) showed that dyslexic children had reduced regional gray matter volume in the left temporo-parietal cortex (spanning over Heschl's gyrus, planum temporale and supramarginal gyrus), middle frontal gyrus, superior occipital gyrus, and reduced regional white matter in bilateral parieto-occipital regions (left cuneus and right precuneus) compared with both age-matched and reading-level matched controls. Therefore, maturational stage-invariant neurobiological signatures of dyslexia were found in brain regions that have been associated with impairments in the auditory/phonological and attentional systems. On the other hand, maturational stage-dependent effects on dyslexia were observed in three regions (left ventral occipito-temporal cortex, left dorsal pars opercularis and genu of the corpus callosum), all of which were previously reported to be involved in fluent reading and its development. These striking dissociations collectively suggest potential atypical developmental trajectories of dyslexia, where underlying mechanisms are currently unknown but may be driven by interactions between genetic and/or environmental factors. In summary, this is the first study to disambiguate

Neuroanatomical Anomalies of Dyslexia: Disambiguating the Effects of Disorder, Performance, and Maturation

PubMed Central

Xia, Zhichao; Hoeft, Fumiko; Zhang, Linjun; Shu, Hua

2016-01-01

An increasing body of studies has revealed neuroanatomical impairments in developmental dyslexia. However, whether these structural anomalies are driven by dyslexia (disorder-specific effects), absolute reading performance (performance-dependent effects), and/or further influenced by age (maturation-sensitive effects) remains elusive. To help disentangle these sources, the current study used a novel disorder (dyslexia vs. control) by maturation (younger vs. older) factorial design in 48 Chinese children who were carefully matched. This design not only allows for direct comparison between dyslexics versus controls matched for chronological age and reading ability, but also enables examination of the influence of maturation and its interaction with dyslexia. Voxel-based morphometry (VBM) showed that dyslexic children had reduced regional gray matter volume in the left temporo-parietal cortex (spanning over Heschl’s gyrus, planum temporale and supramarginal gyrus), middle frontal gyrus, superior occipital gyrus, and reduced regional white matter in bilateral parieto-occipital regions (left cuneus and right precuneus) compared with both age-matched and reading-level matched controls. Therefore, maturational stage-invariant neurobiological signatures of dyslexia were found in brain regions that have been associated with impairments in the auditory/phonological and attentional systems. On the other hand, maturational stage-dependent effects on dyslexia were observed in three regions (left ventral occipito-temporal cortex, left dorsal pars opercularis and genu of the corpus callosum), all of which were previously reported to be involved in fluent reading and its development. These striking dissociations collectively suggest potential atypical developmental trajectories of dyslexia, where underlying mechanisms are currently unknown but may be driven by interactions between genetic and/or environmental factors. In summary, this is the first study to disambiguate

Anomaly-specified virtual dimensionality

NASA Astrophysics Data System (ADS)

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.

Solving the muon g -2 anomaly in deflected anomaly mediated SUSY breaking with messenger-matter interactions

NASA Astrophysics Data System (ADS)

Wang, Fei; Wang, Wenyu; Yang, Jin Min

2017-10-01

We propose to introduce general messenger-matter interactions in the deflected anomaly mediated supersymmetry (SUSY) breaking (AMSB) scenario to explain the gμ-2 anomaly. Scenarios with complete or incomplete grand unified theory (GUT) multiplet messengers are discussed, respectively. The introduction of incomplete GUT mulitiplets can be advantageous in various aspects. We found that the gμ-2 anomaly can be solved in both scenarios under current constraints including the gluino mass bounds, while the scenarios with incomplete GUT representation messengers are more favored by the gμ-2 data. We also found that the gluino is upper bounded by about 2.5 TeV (2.0 TeV) in scenario A and 3.0 TeV (2.7 TeV) in scenario B if the generalized deflected AMSB scenarios are used to fully account for the gμ-2 anomaly at 3 σ (2 σ ) level. Such a gluino should be accessible in the future LHC searches. Dark matter (DM) constraints, including DM relic density and direct detection bounds, favor scenario B with incomplete GUT multiplets. Much of the allowed parameter space for scenario B could be covered by the future DM direct detection experiments.

Developmental Thyroid Hormone Insufficiency Induces Cortical Brain Malformation and Learning Impairments: A Cross-Fostering Study

EPA Science Inventory

Thyroid hormones (TH) are essential for brain development, but animal models of well-defined and sensitive downstream apical neurotoxic outcomes associated with developmental TH disruption are lacking. A structural anomaly, a cortical heterotopia, in the brains of hypothyroid rat...

[Acquired aphasia with convulsion anomalies in the developmental age: clinical neuropsychological and electroencephalographic study of a case].

PubMed

Rossi, P G; Pazzaglia, P; Frank, G

1976-01-01

A four year old boy presented three epileptic seizures of psychomotor type; immediately after he began to show a progressive and rapid dissolution of speech, until he became completely aphasic after few weeks. Since then, repeated EEG examinations have always shown anomalies of epileptic type, located on the left hemisphere, at times on the right, at times bilaterally asynchronous. The neurological, psychic, audiological, chemical-biological and neuro-radiological (bi-lateral carotidogram and penumoencephalogram) exams did not show any other anomalies. After an observation period three years, the AA. underline the following evolutive aspects of the case: 1) The aphasic syndrome is on the way to slow improvement both in its expressive component and in its perceptive component. The recovery of speech seems to follow, with a slower rhythm, the stages of acquisition of the speech in the normal subject. 2) Diversely from other cases of the literature, no positive correlation exists between the gravity of the aphasic syndrome and that of the EEG anomaly: they have worsened while the disturbance of the speech have partially regressed.

MOG without anomaly

NASA Astrophysics Data System (ADS)

Sepehri, Alireza; Ghaffary, Tooraj; Naimi, Yaghoob

2018-03-01

We obtain the action of Moffat's Modified Gravity (MOG), a scalar-tensor-vector theory of gravitation, by generalizing the Horava-Witten mechanism to fourteen dimensions. We show that the resulting theory is anomaly-free. We propose an extended version of MOG that includes fermionic fields.

Brain anomalies in velo-cardio-facial syndrome

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

Mitnick, R.J.; Bello, J.A.; Shprintzen, R.J.

Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardio-facial syndrome (VCF) showed anomalies in nine cases including small vermis, cysts adjacent to the frontal horns, and small posterior fossa. Focal signal hyperintensities in the white matter on long TR images were also noted. The nine patients showed a variety of behavioral abnormalities including mild development delay, learning disabilities, and characteristic personality traits typical of this common multiple anomaly syndrome which has been related to a microdeletion at 22q11. Analysis of the behavorial findings showed no specific pattern related to the brain anomalies, and the patients withmore » VCF who did not have detectable brain lesions also had behavioral abnormalities consistent with VCF. The significance of the lesions is not yet known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF. 25 refs.« less

Severity of Dysfluency Correlates with Basal Ganglia Activity in Persistent Developmental Stuttering

ERIC Educational Resources Information Center

Giraud, Anne-Lise; Neumann, Katrin; Bachoud-Levi, Anne-Catherine; von Gudenberg, Alexander W.; Euler, Harald A.; Lanfermann, Heinrich; Preibisch, Christine

2008-01-01

Previous studies suggest that anatomical anomalies [Foundas, A. L., Bollich, A. M., Corey, D. M., Hurley, M., & Heilman, K. M. (2001). "Anomalous anatomy of speech-language areas in adults with persistent developmental stuttering." "Neurology," 57, 207-215; Foundas, A. L., Corey, D. M., Angeles, V., Bollich, A. M., Crabtree-Hartman, E., & Heilman,…

Increased risk of death with congenital anomalies in the offspring of male semiconductor workers.

PubMed

Lin, Ching-Chun; Wang, Jung-Der; Hsieh, Gong-Yih; Chang, Yu-Yin; Chen, Pau-Chung

2008-01-01

Female workers in the semiconductor industry have higher risks of subfertility and spontaneous abortion, but no studies exploring male-mediated developmental toxicity have been published. This study aimed to investigate whether the offspring of male workers employed in the semiconductor manufacturing industry had an increased risk of death with congenital anomalies. The 6,834 male workers had been employed in the eight semiconductor companies in Taiwan between 1980 and 1994. We identified the live born children with or without congenital anomalies of the workers using the National Birth and Death Registries from the Department of Health, Taiwan. Multiple logistic regression models were used to estimate the odds ratios (OR) of birth outcomes and deaths, controlling for infant sex, maternal age, and paternal education. A total of 5,702 children were born to male workers during the period 1980-1994. There were increased risks of deaths with congenital anomalies (adjusted OR, 3.26; and 95% confidence interval [CI], 1.12-9.44) and heart anomalies (OR, 4.15; 95% CI, 1.08-15.95) in the offspring of male workers who were employed during the two months before conception. We found evidence of a possible link between paternal preconception exposure of semiconductor manufacturing and an increased risk of congenital anomalies, especially of the heart. The possible etiological basis needs to be corroborated in further research.

Magnetic and gravity anomalies in the Americas

NASA Technical Reports Server (NTRS)

Braile, L. W.; Hinze, W. J.; Vonfrese, R. R. B. (Principal Investigator)

1981-01-01

The cleaning and magnetic tape storage of spherical Earth processing programs are reported. These programs include: NVERTSM which inverts total or vector magnetic anomaly data on a distribution of point dipoles in spherical coordinates; SMFLD which utilizes output from NVERTSM to compute total or vector magnetic anomaly fields for a distribution of point dipoles in spherical coordinates; NVERTG; and GFLD. Abstracts are presented for papers dealing with the mapping and modeling of magnetic and gravity anomalies, and with the verification of crustal components in satellite data.

Orbital debris hazard insights from spacecraft anomalies studies

NASA Astrophysics Data System (ADS)

McKnight, Darren S.

2016-09-01

Since the dawning of the space age space operators have been tallying spacecraft anomalies and failures then using these insights to improve the space systems and operations. As space systems improved and their lifetimes increased, the anomaly and failure modes have multiplied. Primary triggers for space anomalies and failures include design issues, space environmental effects, and satellite operations. Attempts to correlate anomalies to the orbital debris environment have started as early as the mid-1990's. Early attempts showed tens of anomalies correlated well to altitudes where the cataloged debris population was the highest. However, due to the complexity of tracing debris impacts to mission anomalies, these analyses were found to be insufficient to prove causation. After the fragmentation of the Chinese Feng-Yun satellite in 2007, it was hypothesized that the nontrackable fragments causing anomalies in LEO would have increased significantly from this event. As a result, debris-induced anomalies should have gone up measurably in the vicinity of this breakup. Again, the analysis provided some subtle evidence of debris-induced anomalies but it was not convincing. The continued difficulty in linking debris flux to satellite anomalies and failures prompted the creation of a series of spacecraft anomalies and failure workshops to investigate the identified shortfalls. These gatherings have produced insights into why this process is not straightforward. Summaries of these studies and workshops are presented and observations made about how to create solutions for anomaly attribution, especially as it relates to debris-induced spacecraft anomalies and failures.

New Data Bases and Standards for Gravity Anomalies

NASA Astrophysics Data System (ADS)

Keller, G. R.; Hildenbrand, T. G.; Webring, M. W.; Hinze, W. J.; Ravat, D.; Li, X.

2008-12-01

derive the predicted or modeled gravity, and thus, anomalies of this class are termed planetary. The most primitive version of a gravity anomaly is simply the difference between the value of gravity predicted by the effect of the reference ellipsoid and the observed gravity anomaly. When the height of the gravity station increases, the ellipsoidal gravity anomaly decreases because of the increased distance of measurement from the anomaly- producing masses. The two primary anomalies in geophysics, which are appropriately classified as planetary anomalies, are the Free-air and Bouguer gravity anomalies. They employ models that account for planetary effects on gravity including the topography of the earth. A second class of anomaly, geological anomalies, includes the modeled gravity effect of known or assumed masses leading to the predicted gravity by using geological data such as densities and crustal thickness. The third class of anomaly, filtered anomalies, removes arbitrary gravity effects of largely unknown sources that are empirically or analytically determined from the nature of the gravity anomalies by filtering.

Congenital anomalies of the hand. The Asian perspective.

PubMed

Ogino, T

1996-02-01

To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

PubMed

Martinelli, Simone; Krumbach, Oliver H F; Pantaleoni, Francesca; Coppola, Simona; Amin, Ehsan; Pannone, Luca; Nouri, Kazem; Farina, Luciapia; Dvorsky, Radovan; Lepri, Francesca; Buchholzer, Marcel; Konopatzki, Raphael; Walsh, Laurence; Payne, Katelyn; Pierpont, Mary Ella; Vergano, Samantha Schrier; Langley, Katherine G; Larsen, Douglas; Farwell, Kelly D; Tang, Sha; Mroske, Cameron; Gallotta, Ivan; Di Schiavi, Elia; Della Monica, Matteo; Lugli, Licia; Rossi, Cesare; Seri, Marco; Cocchi, Guido; Henderson, Lindsay; Baskin, Berivan; Alders, Mariëlle; Mendoza-Londono, Roberto; Dupuis, Lucie; Nickerson, Deborah A; Chong, Jessica X; Meeks, Naomi; Brown, Kathleen; Causey, Tahnee; Cho, Megan T; Demuth, Stephanie; Digilio, Maria Cristina; Gelb, Bruce D; Bamshad, Michael J; Zenker, Martin; Ahmadian, Mohammad Reza; Hennekam, Raoul C; Tartaglia, Marco; Mirzaa, Ghayda M

2018-01-17

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome, a developmental disorder caused by dysregulated RAS signaling. In silico, in vitro, and in vivo analyses demonstrate that mutations variably perturb CDC42 function by altering the switch between the active and inactive states of the GTPase and/or affecting CDC42 interaction with effectors, and differentially disturb cellular and developmental processes. These findings reveal the remarkably variable impact that dominantly acting CDC42 mutations have on cell function and development, creating challenges in syndrome definition, and exemplify the importance of functional profiling for syndrome recognition and delineation. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

PubMed

Beleza-Meireles, Ana; Steenhaut, Patricia; Hocq, Catheline; Clapuyt, Philippe; Bernard, Pierre; Debauche, Christian; Sznajer, Yves

2017-02-01

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Eating disorders and the serotonin connection: state, trait and developmental effects

PubMed Central

Steiger, Howard

2004-01-01

Alterations in brain serotonin (5-hydroxytryptamine [5-HT]) function are thought to contribute to diverse aspects of eating disorders, including binge eating, perfectionism, impulsivity and mood-regulation problems. In addition, 5-HT anomalies in individuals with eating disorders are believed to have multiple determinants associated with secondary (state-related) effects of their nutritional status, hereditary effects (related to such trait variations as impulsivity or perfectionism) and, possibly, long-term neurobiologic sequelae of developmental stressors (such as childhood abuse). On the strength of the available neurobiologic and genetic data, this paper presents the idea that 5-HT variations in those with eating disorders represent (1) a structured coaggregation of biologic, psychologic and social influences and (2) converging state, trait and developmental effects. Data are taken to support a multidimensional model of 5-HT function in eating disorders that, it is argued, can serve as a prototype for etiologic modelling, diagnostic classification and clinical decision-making bearing not only upon eating disorders but also upon other psychiatric disturbances. PMID:14719047

Associated congenital anomalies among cases with Down syndrome.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2015-12-01

Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

Limb anomalies in DiGeorge and CHARGE syndromes

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

Prasad, C.; Quackenbush, E.J.; Whiteman, D.

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.

Anomaly-corrected supersymmetry algebra and supersymmetric holographic renormalization

NASA Astrophysics Data System (ADS)

An, Ok Song

2017-12-01

We present a systematic approach to supersymmetric holographic renormalization for a generic 5D N=2 gauged supergravity theory with matter multiplets, including its fermionic sector, with all gauge fields consistently set to zero. We determine the complete set of supersymmetric local boundary counterterms, including the finite counterterms that parameterize the choice of supersymmetric renormalization scheme. This allows us to derive holographically the superconformal Ward identities of a 4D superconformal field theory on a generic background, including the Weyl and super-Weyl anomalies. Moreover, we show that these anomalies satisfy the Wess-Zumino consistency condition. The super-Weyl anomaly implies that the fermionic operators of the dual field theory, such as the supercurrent, do not transform as tensors under rigid supersymmetry on backgrounds that admit a conformal Killing spinor, and their anticommutator with the conserved supercharge contains anomalous terms. This property is explicitly checked for a toy model. Finally, using the anomalous transformation of the supercurrent, we obtain the anomaly-corrected supersymmetry algebra on curved backgrounds admitting a conformal Killing spinor.

Overgrowth syndromes with vascular anomalies.

PubMed

Blei, Francine

2015-04-01

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. Copyright © 2015 Mosby, Inc. All rights reserved.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

PubMed

Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M

2016-06-01

We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43. Although Sanger and exome sequencing did not identify variants in the second IFT43 allele or in other IFT complex A-protein-encoding genes, immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Thermal Infrared Anomalies of Several Strong Earthquakes

PubMed Central

Wei, Congxin; Guo, Xiao; Qin, Manzhong

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. PMID:24222728

Thermal infrared anomalies of several strong earthquakes.

PubMed

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.

Analysis of renal anomalies in VACTERL association.

PubMed

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.

Setting global research priorities for developmental disabilities, including intellectual disabilities and autism.

PubMed

Tomlinson, M; Yasamy, M T; Emerson, E; Officer, A; Richler, D; Saxena, S

2014-12-01

The prevalence of intellectual disabilities (ID) has been estimated at 10.4/1000 worldwide with higher rates among children and adolescents in lower income countries. The objective of this paper is to address research priorities for development disabilities, notably ID and autism, at the global level and to propose the more rational use of scarce funds in addressing this under-investigated area. An expert group was identified and invited to systematically list and score research questions. They applied the priority setting methodology of the Child Health and Nutrition Research Initiative (CHNRI) to generate research questions and to evaluate them using a set of five criteria: answerability, feasibility, applicability and impact, support within the context and equity. The results of this process clearly indicated that the important priorities for future research related to the need for effective and efficient approaches to early intervention, empowerment of families supporting a person with developmental disability and to address preventable causes of poor health in people with ID and autism. For the public health and other systems to become more effective in delivering appropriate support to persons with developmental disabilities, greater (and more targeted) investment in research is required to produce evidence of what works consistent with international human rights standards. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Fused primary first mandibular macromolar with a unique relation to its permanent successors: A rare tooth anomaly.

PubMed

Dhindsa, Abhishek; Garg, Shalini; Damle, S G; Opal, Shireen; Singh, Tavleen

2013-04-01

Dental anomalies of number and forms may occur in the primary and permanent dentition. Various terms have been used to describe dental twinning anomalies: Germination, fusion, concrescence, double teeth, conjoined teeth, twinned teeth, geminifusion, and vicinifusion. Fused tooth is a developmental anomaly that is seen more frequently in the primary than the permanent dentition. Double tooth involving deciduous anterior teeth is found mostly in the mandible. Very few cases of nonsyndromic double primary molar have been reported in the literature. The succeeding permanent tooth is often found missing congenitally in the same region. This article reports a very rare unilateral occurrence of an anomalous, primary mandibular first macromolar formed by fusion with a dysmorphic premolar like supernumerary tooth in deciduous dentition period. Instead of agenesis of succedaneous tooth, the double tooth has been succeeded by normally developing mandibular first premolar in the same region.

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

PubMed Central

Webb, Bryn D.; Scharf, Rebecca J.; Spear, Emily A.; Edelmann, Lisa J.; Stroustrup, Annemarie

2015-01-01

The goal of molecular cytogenetic testing for children presenting with developmental delay is to identify or exclude genetic abnormalities that are associated with cognitive, behavioral, and/or motor symptoms. Until 2010, chromosome analysis was the standard first-line genetic screening test for evaluation of patients with developmental delay when a specific syndrome was not suspected. In 2010, The American College of Medical Genetics and several other groups recommended chromosomal microarray (CMA) as the first-line test in children with developmental delays, multiple congenital anomalies, and/or autism. This test is able to detect regions of genomic imbalances at a much finer resolution than G-banded karyotyping. Until recently, no CMA testing had been approved by the United States Food and Drug Administration (FDA). This review will focus on the use of the Affymetrix CytoScan® Dx Assay, the first CMA to receive FDA approval for the genetic evaluation of individuals with developmental delay. PMID:25350348

Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.

PubMed

Marble, Michael; Pridjian, Gabriella

2002-04-01

We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome. Copyright 2002 Wiley-Liss, Inc.

Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis.

PubMed

Subhani, Muhammad; Akangire, Gangaram; Kulkarni, Archana; Wilson, Golder N

2009-07-01

We describe a girl infant with anomalies of the left pelvis and lower limb (pelvic, femoral, and tibial hypogenesis with absent fibula), subtle facial changes, patent foraman ovale, single umbilical artery, single kidney, and imperforate anus. The external genitalia were asymmetric and ambiguous with normal uterus and ovaries visualized by ultrasound. The anomalies are compatible with previously reported cases of Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia, an autosomal recessive disorder with WNT7 gene mutations documented in one family. We suggest that AARRS phocomelia, Fuhrmann syndrome, and similar conditions comprise a spectrum, and that the anomaly pattern derives from serial action of the same signal pathways within primary (e.g., the major axes), secondary (e.g., heart or limb primordia), and/or local (e.g., tibial-fibular differentiation) developmental fields.

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

NASA Technical Reports Server (NTRS)

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

Branchial Anomalies: Diagnosis and Management

PubMed Central

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

Branchial anomalies: diagnosis and management.

PubMed

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.

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

PubMed

Christiansen, Peter; Nielsen, Lars N; Steen, Kim A; Jørgensen, Rasmus N; Karstoft, Henrik

2016-11-11

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).

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

PubMed Central

Christiansen, Peter; Nielsen, Lars N.; Steen, Kim A.; Jørgensen, Rasmus N.; Karstoft, Henrik

2016-01-01

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). PMID:27845717

Distribution of female genital tract anomalies in two classifications.

PubMed

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.

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes.

PubMed

Patek, Kyla J; Kline-Fath, Beth M; Hopkin, Robert J; Pilipenko, Valentina V; Crombleholme, Timothy M; Spaeth, Christine G

2012-01-01

The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. Cases of Dandy-Walker malformation, vermian hypogenesis/hypoplasia, and mega cisterna magna (MCM) were identified through the Fetal Care Center of Cincinnati between January 2004 and December 2010. Parental interview and retrospective chart review were used to assess neurodevelopmental outcome. Posterior fossa anomalies were identified in 59 fetuses; 9 with Dandy-Walker malformation, 36 with vermian hypogenesis/hypoplasia, and 14 with MCM. Cases with isolated PFAs (14/59) had better outcomes than those with additional anomalies (p = 0.00016), with isolated cases of MCM all being neurodevelopmentally normal. Cases with additional intracranial anomalies had a worse outcome than those without intracranial anomalies (p = 0.00017). The presence of extracranial anomalies increased the likelihood of having a poor outcome (p = 0.00014) as did the identification of an abnormal brainstem (p = 0.00018). Intracranial and extracranial anomalies were good predictors of neurodevelopmental outcome in this study. The prognosis was poor for individuals with an abnormal brainstem, whereas those with isolated MCM had normal neurodevelopmental outcome. © 2012 John Wiley & Sons, Ltd.

Cervical vertebral anomalies in patients with anomalies of the head and neck.

PubMed

Manaligod, J M; Bauman, N M; Menezes, A H; Smith, R J

1999-10-01

Congenital head and neck anomalies can occur in association with vertebral anomalies, particularly of the cervical vertebrae. While the former are easily recognized, especially when part of a syndrome, the latter are often occult, thereby delaying their diagnosis. The presence of vertebral anomalies must be considered in pediatric patients with head and neck abnormalities to expedite management of select cases and to prevent neurologic injury. We present our experience with 5 pediatric patients who were referred to the Department of Otolaryngology-Head and Neck Surgery at the University of Iowa with a variety of syndromic anomalies of the head and neck. Each patient was subsequently also found to have a vertebral anomaly. The relevant embryogenesis of the anomalous structures is discussed, with highlighting of potential causes such as teratogenic agents and events and germ-line mutations. A review of syndromes having both head and neck and vertebral anomalies is presented to heighten awareness of otolaryngologists evaluating children with syndromic disorders. Finally, the findings on radiographic imaging studies, particularly computed tomography, are discussed to facilitate the prompt diagnosis of vertebral anomalies.

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

PubMed Central

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent

2016-01-01

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

Analysis of spacecraft anomalies

NASA Technical Reports Server (NTRS)

Bloomquist, C. E.; Graham, W. C.

1976-01-01

The anomalies from 316 spacecraft covering the entire U.S. space program were analyzed to determine if there were any experimental or technological programs which could be implemented to remove the anomalies from future space activity. Thirty specific categories of anomalies were found to cover nearly 85 percent of all observed anomalies. Thirteen experiments were defined to deal with 17 of these categories; nine additional experiments were identified to deal with other classes of observed and anticipated anomalies. Preliminary analyses indicate that all 22 experimental programs are both technically feasible and economically viable.

Radioactive anomaly discrimination from spectral ratios

DOEpatents

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.

Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection.

PubMed

Sanchez-Albisua, I; Borell-Kost, S; Mau-Holzmann, U A; Licht, P; Krägeloh-Mann, I

2007-02-01

The neurodevelopmental outcome of children born after intracytoplasmic sperm injection (ICSI) is controversial. We compared the medical and developmental outcome of 34 singletons born after ICSI (20 males, 14 females; mean ages of 18 mo and 40 mo [SD 9 mo]; range 2 y 10 mo-4 y 8 mo) with 39 case control studies (21 males, 18 females; mean ages of 18 mo and 40 mo [SD 4 mo]; range 3 y-4 y 1 mo). Each child was assessed physically and tested in three development domains (fine motor, gross motor, and language). Five children born after ICSI versus two control children (p=0.2) had major congenital anomalies (MaCAs). Four children born after ICSI versus no control children had severe MaCAs (p=0.04). These were defined as having a significant impact on development or causing chronic disease: Angelman syndrome (n=1), lissencephaly (n=1), Hanhart syndrome (n=1), and persistent hyperinsulinemic hypoglycaemia of infancy (n=1). Karyotyping in 23 children born after ICSI revealed no abnormalities. An imprinting defect was found in the child with Angelman syndrome. Results of developmental assessment were in all cases normal at the age of 18 months except for the three children with Angelman and Hanhart syndromes, and lissencephaly. At the second assessment, five more children born after ICSI and four control children showed abnormalities in one or more developmental domains. We conclude that there seems to be a higher frequency of severe major anomalies in children born after ICSI. An increased risk for imprinting defects cannot be excluded. If we exclude children with severe MaCAs, the incidence of an abnormal somatic or neurodevelopmental outcome in the fourth year of life in children born after ICSI is similar to that of spontaneously conceived children.

Familial polythelia without associated anomalies.

PubMed

Casey, H D; Chasan, P E; Chick, L R

1996-01-01

Of the many forms of supernumerary breast tissue, the most common form is the isolated presence of an accessory nipple, polythelia. While familial polythelia is recognized, it is extremely rare. In the past several years, polythelia has been noted to be associated with nephrourological anomalies. All reports of such a relationship are in random, nonfamilial cases of polythelia. We report three cases of polythelia in a family over two generations who had no urinary tract abnormalities. Discussion includes a comprehensive review of familial polythelia and its association with renal anomalies. From this review, the association of familial polythelia with nephrourological abnormalities will be delineated. Although in this report of a single family with polythelia we did not demonstrate any renal anomalies, we feel that a thorough physical exam, urine analysis, and renal ultrasound should be pursued in any patient with a significant familial history of polythelia.

Experimental Anomalies in Neutrino Physics

NASA Astrophysics Data System (ADS)

Palamara, Ornella

2014-03-01

In recent years, experimental anomalies ranging in significance (2.8-3.8 σ) have been reported from a variety of experiments studying neutrinos over baselines less than 1 km. Results from the LSND and MiniBooNE short-baseline νe /νe appearance experiments show anomalies which cannot be described by oscillations between the three standard model neutrinos (the ``LSND anomaly''). In addition, a re-analysis of the anti-neutrino flux produced by nuclear power reactors has led to an apparent deficit in νe event rates in a number of reactor experiments (the ``reactor anomaly''). Similarly, calibration runs using 51Cr and 37Ar radioactive sources in the Gallium solar neutrino experiments GALLEX and SAGE have shown an unexplained deficit in the electron neutrino event rate over very short distances (the ``Gallium anomaly''). The puzzling results from these experiments, which together may suggest the existence of physics beyond the Standard Model and hint at exciting new physics, including the possibility of additional low-mass sterile neutrino states, have raised the interest in the community for new experimental efforts that could eventually solve this puzzle. Definitive evidence for sterile neutrinos would be a revolutionary discovery, with implications for particle physics as well as cosmology. Proposals to address these signals by employing accelerator, reactor and radioactive source experiments are in the planning stages or underway worldwide. In this talk some of these will be reviewed, with emphasis on the accelerator programs.

Competing Orders and Anomalies

PubMed Central

Moon, Eun-Gook

2016-01-01

A conservation law is one of the most fundamental properties in nature, but a certain class of conservation “laws” could be spoiled by intrinsic quantum mechanical effects, so-called quantum anomalies. Profound properties of the anomalies have deepened our understanding in quantum many body systems. Here, we investigate quantum anomaly effects in quantum phase transitions between competing orders and striking consequences of their presence. We explicitly calculate topological nature of anomalies of non-linear sigma models (NLSMs) with the Wess-Zumino-Witten (WZW) terms. The non-perturbative nature is directly related with the ’t Hooft anomaly matching condition: anomalies are conserved in renormalization group flow. By applying the matching condition, we show massless excitations are enforced by the anomalies in a whole phase diagram in sharp contrast to the case of the Landau-Ginzburg-Wilson theory which only has massive excitations in symmetric phases. Furthermore, we find non-perturbative criteria to characterize quantum phase transitions between competing orders. For example, in 4D, we show the two competing order parameter theories, CP(1) and the NLSM with WZW, describe different universality class. Physical realizations and experimental implication of the anomalies are also discussed. PMID:27499184

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

PubMed Central

Busi, Micol; Rosignoli, Monica; Minazzi, Federica; Trevisi, Patrizia; Aimoni, Claudia; Calzolari, Ferdinando; Martini, Alessandro

2015-01-01

Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies.

PubMed

Busi, Micol; Rosignoli, Monica; Castiglione, Alessandro; Minazzi, Federica; Trevisi, Patrizia; Aimoni, Claudia; Calzolari, Ferdinando; Granieri, Enrico; Martini, Alessandro

2015-01-01

Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a

Spacecraft Environmental Anomalies Handbook

DTIC Science & Technology

1989-08-01

1989 4. TITLE AND SUBTITLE S. FUNDING NUMBERS SPACECRAFT ENVIRONMENTAL ANOMALIES HANDBOOK 282201AA PE: 63410F 6. AUTHOR(S) Paul A. Robinson, Jr 7...engineering solutions for mitigating the effects of environmental anomalies have been developed. Among the causes o, spacecraft anomalies are surface...have been discovered after years of investig!:tion, and engineering solutions for mitigating the effccts of environmental anomalies have been developed

A novel surgical management of hypopharyngeal branchial anomalies.

PubMed

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.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

PubMed

Yuan, Haiming; Meng, Zhe; Zhang, Lina; Luo, Xiangyang; Liu, Liping; Chen, Mengfan; Li, Xinwei; Zhao, Weiwei; Liang, Liyang

2016-01-01

Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.

Congenital anomalies

PubMed Central

Kunisaki, Shaun M.

2012-01-01

Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

The Domain of Developmental Psychopathology.

ERIC Educational Resources Information Center

Sroufe, L. Alan; Rutter, Michael

1984-01-01

Describes how developmental psychopathology differs from related disciplines, including abnormal psychology, psychiatry, clinical child psychology, and developmental psychology. Points out propositions underlying a developmental perspective and discusses implications for research in developmental psychopathology. (Author/RH)

Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy.

PubMed

Komoike, Yuta; Matsuoka, Masato; Kosaki, Kenjiro

2013-06-01

While methimazole (MMI) is widely used in the therapy for hyperthyroidism, several groups have reported that maternal exposure to MMI results in a variety of congenital anomalies, including choanal and esophageal atresia, iridic and retinal coloboma, and delayed neurodevelopment. Thus, adverse effects of maternal exposure to MMI on fetal development have long been suggested; however, direct evidence for the teratogenicity of MMI has not been presented. Therefore, we studied the effects of MMI on early development by using zebrafish as a model organism. The fertilized eggs of zebrafish were collected immediately after spawning and grown in egg culture water containing MMI at various concentrations. External observation of the embryos revealed that exposure to high concentrations of MMI resulted in loss of pigmentation, hypoplastic hindbrain, turbid tissue in the forebrain, swelling of the notochord, and curly trunk. Furthermore, these effects occurred in a dose-dependent manner. Precise observation of the serial cross-sections of MMI-exposed embryos elucidated delayed development and hypoplasia of the whole brain and spinal cord, narrowing of the pharynx and esophagus, severe disruption of the retina, and aberrant structure of the notochord. These neuronal, pharyngeal, esophageal, and retinal anomalous morphologies have a direct analogy to the congenital anomalies observed in children exposed to MMI in utero. Here, we show the teratogenic effects of MMI on the development of zebrafish and provide the first experimental evidence for the connection between exposure to MMI and human MMI embryopathy. © 2013 Wiley Periodicals, Inc.

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract].

PubMed

Šípek, A; Gregor, V; Horáček, J; Šípek, A; Klaschka, J; Malý, M

2015-03-01

Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of

Preservice Early Childhood Educators' and Elementary Teachers' Perspectives on Including Young Children with Developmental Disabilities: A Mixed Methods Analysis

ERIC Educational Resources Information Center

Frankel, Elaine B.; Hutchinson, Nancy L.; Burbidge, Julie; Minnes, Patricia

2014-01-01

This mixed methods study reports on the perspectives of 143 preservice early childhood educators (ECE) and 208 elementary teacher candidates (TC) on teaching children with developmental disabilities and delays (DDD) in inclusive classrooms. A questionnaire was administered which included items on demographic characteristics, experience, knowledge,…

Interstitial deletion of 8q21{yields}22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant

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

Donahue, M.L.; Ryan, R.M.

1995-03-13

We describe an infant with a deletion of 8q21{yields}22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a {open_quotes}carp-shaped{close_quotes} mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previouslymore » noted three cases, helps in delineating a recognizable syndrome. 12 refs., 3 figs., 1 tab.« less

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

PubMed

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.

Urogenital anomalies in girls with sacrococcygeal teratoma: a commonly missed association.

PubMed

Shalaby, Mohamed Sameh; O'Toole, Stuart; Driver, Chris; Bradnock, Tim; Lam, Jimmy; Carachi, Robert

2012-02-01

The association of urogenital (UG) anomalies and sacrococcygeal teratoma (SCT) has not been widely reported. Our aim was to look at the national incidence and presentation of this anomaly in patients with SCT and to provide the first report of a clear anatomical description of this commonly missed association. Sacrococcygeal teratoma cases in Scotland during the last 30 years were identified. Patients with associated UG anomalies were reviewed in detail to identify their presentation, anatomy, and management. Fifty-three patients with SCT were identified, including 41 girls. Five girls (12%) subsequently had a UG anomaly diagnosed, which was not apparent at the initial surgery. Two patients presented with retention, and their anomaly was diagnosed at 6 weeks and 7 months of age. The other 3 presented with incontinence, and despite thorough assessment, including cystoscopy, their UG anomalies were not recognized until the ages of 7, 9, and 13 years. Urogenital anomalies are surprisingly common in girls with SCT. The reason for this association is unclear. None of these cases were diagnosed initially, which means that it was either missed or acquired. Urogenital anomalies should be suspected in girls with SCT and actively excluded in those with voiding difficulties. Copyright © 2012 Elsevier Inc. All rights reserved.

The Age Specific Incidence Anomaly Suggests that Cancers Originate During Development

NASA Astrophysics Data System (ADS)

Brody, James P.

The accumulation of genetic alterations causes cancers. Since this accumulation takes time, the incidence of most cancers is thought to increase exponentially with age. However, careful measurements of the age-specific incidence show that the specific incidence for many forms of cancer rises with age to a maximum, and then decreases. This decrease in the age-specific incidence with age is an anomaly. Understanding this anomaly should lead to a better understanding of how tumors develop and grow. Here we derive the shape of the age-specific incidence, showing that it should follow the shape of a Weibull distribution. Measurements indicate that the age-specific incidence for colon cancer does indeed follow a Weibull distribution. This analysis leads to the interpretation that for colon cancer two subpopulations exist in the general population: a susceptible population and an immune population. Colon tumors will only occur in the susceptible population. This analysis is consistent with the developmental origins of disease hypothesis and generalizable to many other common forms of cancer.

Analysis of spacecraft on-orbit anomalies and lifetimes

NASA Technical Reports Server (NTRS)

Bloomquist, C.; Graham, W.

1983-01-01

Analyses of the on-orbit performance of forty-four unmanned NASA spacecraft are presented. Included are detailed descriptions and classifications of over 600 anomalies; each anomalous incident represents one reported deviation from expected spacecraft performance. Charts depicting satellite lifetimes and the performance of their major subsystems are included. Engineering analyses to further investigate the kinds and frequencies of various classes of anomalies have been conducted. An improved method for charting spacecraft capability as a function of time on orbit is explored.

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

PubMed

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

2016-02-01

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Drug safety in pregnancy--monitoring congenital anomalies.

PubMed

Morgan, Margery; De Jong-van den Berg, Lolkje T W; Jordan, Sue

2011-04-01

This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored to prevent anything similar happening again. However, monitoring is incomplete and questions remain unanswered. Many medicines are essential for the health of pregnant women. However, drug use in pregnancy requires surveillance. Methods include spontaneous reporting of adverse events, cohort studies and case control studies. It is hoped that a Europe-wide study, combining data from several congenital anomaly registers, will provide a sufficiently large population to assess the impact of selected drugs on congenital anomalies. However, this work depends on the consistency of reporting by nurses and midwives. Drug safety in pregnancy remains undetermined. Collaboration across Europe has the potential to provide a framework for safety evaluation. Prescribers should consider the possibility of pregnancy in women of child-bearing age. Careful review of maternal drug use in early pregnancy is essential. Midwives and nurses should be aware of adverse event drug reporting systems, including congenital anomaly registers. © 2011 The Authors. Journal compilation © 2011 Blackwell Publishing Ltd.

Lymphatic Anomalies Registry

ClinicalTrials.gov

2018-01-23

Lymphatic Malformation; Generalized Lymphatic Anomaly (GLA); Central Conducting Lymphatic Anomaly; CLOVES Syndrome; Gorham-Stout Disease ("Disappearing Bone Disease"); Blue Rubber Bleb Nevus Syndrome; Kaposiform Lymphangiomatosis; Kaposiform Hemangioendothelioma/Tufted Angioma; Klippel-Trenaunay Syndrome; Lymphangiomatosis

Uncontrolled angiogenic precursor expansion causes coronary artery anomalies in mice lacking Pofut1.

PubMed

Wang, Yidong; Wu, Bingruo; Lu, Pengfei; Zhang, Donghong; Wu, Brian; Varshney, Shweta; Del Monte-Nieto, Gonzalo; Zhuang, Zhenwu; Charafeddine, Rabab; Kramer, Adam H; Sibinga, Nicolas E; Frangogiannis, Nikolaos G; Kitsis, Richard N; Adams, Ralf H; Alitalo, Kari; Sharp, David J; Harvey, Richard P; Stanley, Pamela; Zhou, Bin

2017-09-18

Coronary artery anomalies may cause life-threatening cardiac complications; however, developmental mechanisms underpinning coronary artery formation remain ill-defined. Here we identify an angiogenic cell population for coronary artery formation in mice. Regulated by a DLL4/NOTCH1/VEGFA/VEGFR2 signaling axis, these angiogenic cells generate mature coronary arteries. The NOTCH modulator POFUT1 critically regulates this signaling axis. POFUT1 inactivation disrupts signaling events and results in excessive angiogenic cell proliferation and plexus formation, leading to anomalous coronary arteries, myocardial infarction and heart failure. Simultaneous VEGFR2 inactivation fully rescues these defects. These findings show that dysregulated angiogenic precursors link coronary anomalies to ischemic heart disease.Though coronary arteries are crucial for heart function, the mechanisms guiding their formation are largely unknown. Here, Wang et al. identify a unique, endocardially-derived angiogenic precursor cell population for coronary artery formation in mice and show that a DLL4/NOTCH1/VEGFA/VEGFR2 signaling axis is key for coronary artery development.

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

PubMed

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.

Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches

PubMed Central

Prajapati, H J S; Martin, L G; Patel, T H

2014-01-01

The term vascular anomaly represents a broad spectrum of vascular pathology, including proliferating vascular tumours and vascular malformations. While the treatment of most vascular anomalies is multifactorial, interventional radiology procedures, including embolic therapy, sclerotherapy and laser coagulation among others, are playing an increasingly important role in vascular anomaly management. This review discusses the diagnosis and treatment of common vascular malformations, with emphasis on the technique, efficacy and complications of different interventional radiology procedures. PMID:24588666

Use of 3D printer model to study vertebral artery anatomy and variations in developmental craniovertebral junction anomalies and as a preoperative tool—an institutional experience

PubMed Central

Chopra, Sanjeev; Kataria, Rashim; Sinha, Virendra Deo

2017-01-01

Background Spinal instrumentation using rods and screws have become procedure of choice for posterior fixation. Vertebral artery anatomy is highly variable in this region posing challenges during surgery. Our study used 3D printer model to understand the anatomy and variations in vertebral artery in live patients thereby providing an accurate idea about vertebral artery injury risk in these patients preoperatively and to rehearse the whole procedure. Methods Ten patients of developmental craniovertebral junction (CVJ) anomalies who were planned for operative intervention in the Department of Neurosurgery at SMS Hospital from February 2016 to December 2016 were analysed using a 3D printer model. Results Out of twenty vertebral arteries studied in ten patients, two were hypoplastic and out of these one could not be appreciated on 3D printer model. Out of remaining nineteen, thirteen arteries were found to lie outside the joint, three were in lateral third, one traversed the middle third of joint and one lied in medial third. In one patient, the vertebral artery was stretched and it traversed horizontally over the joint. Out of ten patients studied, nine were having occipitalised atlas and so entry of these vertebral arteries into cranium were classified as given by Wang et al. into four types. Conclusions By our study, 3D printer model was extremely helpful in analyzing joints and vertebral artery preoperatively and making the surgeon acquainted about the placement and trajectory of the screws accordingly. In our opinion, these models should be included as a basic investigation tool in these patients. PMID:29354734

[Models and Foundations of Developmental Education.

ERIC Educational Resources Information Center

Boylan, Hunter R., Ed.; Kerstiens, Gene, Ed.

1988-01-01

These five issues of "Research in Developmental Education," examine the theoretical models and foundations of developmental education. Included are the following: (1) "Theoretical Foundations of Developmental Education," by Hunter R. Boylan, which examines the behaviorist, humanist, and developmental theories underpinning developmental education;…

Characterization of normality of chaotic systems including prediction and detection of anomalies

NASA Astrophysics Data System (ADS)

Engler, Joseph John

Accurate prediction and control pervades domains such as engineering, physics, chemistry, and biology. Often, it is discovered that the systems under consideration cannot be well represented by linear, periodic nor random data. It has been shown that these systems exhibit deterministic chaos behavior. Deterministic chaos describes systems which are governed by deterministic rules but whose data appear to be random or quasi-periodic distributions. Deterministically chaotic systems characteristically exhibit sensitive dependence upon initial conditions manifested through rapid divergence of states initially close to one another. Due to this characterization, it has been deemed impossible to accurately predict future states of these systems for longer time scales. Fortunately, the deterministic nature of these systems allows for accurate short term predictions, given the dynamics of the system are well understood. This fact has been exploited in the research community and has resulted in various algorithms for short term predictions. Detection of normality in deterministically chaotic systems is critical in understanding the system sufficiently to able to predict future states. Due to the sensitivity to initial conditions, the detection of normal operational states for a deterministically chaotic system can be challenging. The addition of small perturbations to the system, which may result in bifurcation of the normal states, further complicates the problem. The detection of anomalies and prediction of future states of the chaotic system allows for greater understanding of these systems. The goal of this research is to produce methodologies for determining states of normality for deterministically chaotic systems, detection of anomalous behavior, and the more accurate prediction of future states of the system. Additionally, the ability to detect subtle system state changes is discussed. The dissertation addresses these goals by proposing new representational

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

PubMed Central

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

2010-01-01

Purpose 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. Procedures We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Findings 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. Conclusions There should be a high index of suspicion for the presence of GU anomalies even in patient who do not have spatially similar malformations. PMID:21235632

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

PubMed

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

2013-11-01

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

MAGSAT anomaly map and continental drift

NASA Technical Reports Server (NTRS)

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 role of landscape anomalies in regional plant conservation

Treesearch

S. Kelso; C. Hall; G. Maentz

2001-01-01

Landscape anomalies are regionally restricted habitats created by unusual geologic, edaphic, or hydrologic factors. Barrens, cliff faces, canyons, hanging gardens, and playas are all examples of landscape anomalies in the arid Southwest. Such sites often harbor an unusual and rich flora, including endemic, disjunct, or relictual plant species. Using examples from our...

Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology.

PubMed

Ohba, Hideo; Yamaguchi, Satoshi; Sadatomo, Takashi; Takeda, Masaaki; Kolakshyapati, Manish; Kurisu, Kaoru

2017-03-01

The first-line treatment of encephalocele is reduction of herniated structures. Large irreducible encephalocele entails resection of the lesion. In such case, it is essential to ascertain preoperatively if the herniated structure encloses critical venous drainage. Two cases of encephalocele presenting with large occipital mass underwent magnetic resonance (MR) imaging. In first case, the skin mass enclosed the broad space containing cerebrospinal fluid and a part of occipital lobe and cerebellum. The second case had occipital mass harboring a large portion of cerebrum enclosing dilated ventricular space. Both cases had common venous anomalies such as split superior sagittal sinus and high-positioned torcular herophili. They underwent resection of encephalocele without subsequent venous congestion. We could explain the pattern of venous anomalies in encephalocele based on normal developmental theory. Developmental theory connotes that major dural sinuses cannot herniate into the sac of encephalocele. Irrespective to its size, encephalocele can be resected safely at the neck without subsequent venous congestion.

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

PubMed

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; P<.0001). They were more likely to have persistent disease after primary excision: 7 (25.9%) vs 2 (2.5%) (RR, 3; 95% CI, 1.9-5; P=.0025). They were more likely to undergo additional surgery: 8 (29.6%) vs 3 (11.1%) (RR, 2.9; 95% CI, 1.8-4.7; P=.0025). Of 7 persistent first anomalies, 6 (85.7%) were medial to the facial nerve, and 4 (57.1%) required ear-specific surgery for management. Children with first branchial 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.

Linkage mapping of the primary disease locus for collie eye anomaly.

PubMed

Lowe, Jennifer K; Kukekova, Anna V; Kirkness, Ewen F; Langlois, Mariela C; Aguirre, Gustavo D; Acland, Gregory M; Ostrander, Elaine A

2003-07-01

Collie eye anomaly (cea) is a hereditary ocular disorder affecting development of the choroid and sclera segregating in several breeds of dog, including rough, smooth, and Border collies and Australian shepherds. The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities. In dogs, however, the clinical phenotype can vary significantly; many dogs exhibit no obvious clinical consequences and retain apparently normal vision throughout life, while severely affected animals develop secondary retinal detachment, intraocular hemorrhage, and blindness. We report genetic studies establishing that the primary cea phenotype, choroidal hypoplasia, segregates as an autosomal recessive trait with nearly 100% penetrance. We further report linkage mapping of the primary cea locus to a 3.9-cM region of canine chromosome 37 (LOD = 22.17 at theta = 0.076), in a region corresponding to human chromosome 2q35. These results suggest the presence of a developmental regulatory gene important in ocular embryogenesis, with potential implications for other disorders of ocular vascularization.

Worldwide complete spherical Bouguer and isostatic anomaly maps

NASA Astrophysics Data System (ADS)

Bonvalot, S.; Balmino, G.; Briais, A.; Peyrefitte, A.; Vales, N.; Biancale, R.; Gabalda, G.; Reinquin, F.

2011-12-01

We present here a set of digital maps of the Earth's gravity anomalies (surface "free air", Bouguer and isostatic), computed at Bureau Gravimetric International (BGI) as a contribution to the Global Geodetic Observing Systems (GGOS) and to the global geophysical maps published by the Commission for the Geological Map of the World (CGMW). The free air and Bouguer anomaly concept is extensively used in geophysical interpretation to investigate the density distributions in the Earth's interior. Complete Bouguer anomalies (including terrain effects) are usually computed at regional scales by integrating the gravity attraction of topography elements over and beyond a given area (under planar or spherical approximations). Here, we developed and applied a worldwide spherical approach aimed to provide a set of homogeneous and high resolution gravity anomaly maps and grids computed at the Earth's surface, taking into account a realistic Earth model and reconciling geophysical and geodetic definitions of gravity anomalies. This first version (1.0) has been computed by spherical harmonics analysis / synthesis of the Earth's topography-bathymetry up to degree 10800. The detailed theory of the spherical harmonics approach is given in Balmino et al., (Journal of Geodesy, submitted). The Bouguer and terrain corrections have thus been computed in spherical geometry at 1'x1' resolution using the ETOPO1 topography/bathymetry, ice surface and bedrock models from the NOAA (National Oceanic and Atmospheric Administration) and taking into account precise characteristics (boundaries and densities) of major lakes, inner seas, polar caps and of land areas below sea level. Isostatic corrections have been computed according to the Airy Heiskanen model in spherical geometry for a constant depth of compensation of 30km. The gravity information given here is provided by the Earth Geopotential Model (EGM2008), developed at degree 2160 by the National Geospatial Intelligence Agency (NGA) (Pavlis

Coral can have growth anomalies

EPA Science Inventory

Coral growth anomalies (GAs) are changes in the coral cells that deposit the calcium carbonate skeleton. They usually appear as raised areas of the skeleton and tissue that are different from the surrounding normal areas on the same colony. The features include abnormal shape a...

[Coexistence of female sexual organ malformation and urinary tract anomalies].

PubMed

Rzymski, P; Szpakowska-Rzymska, I; el Yubi, R; Wilczak, M; Sajdak, S; Opala, T

2001-02-01

The aim of the study was to estimate the correlation between sexual organs and urinary tract malformation. The retrospective analysis of clinical data obtained from 50 patients with sexual organs anomalies diagnosed in the Academic Gynaecological Centre between 1992-1999 was performed. Material included 24 patients with the Meyer-Rokitansky-Küster-Hauser syndrome and 26 with other sexual organs' malformations. Frequency of urinary tract anomalies was 42%, 11 patients with Meyer-Rokitansky-Küster-Hauser syndrome and 11 with other malformations. The gravity of urinary tract anomalies showed no statistical significant difference dependent on the type and symmetry of genital malformation. Urinary tract anomalies were more frequent in cases of asymmetric genital malformation and the difference was statistically significant. Intravenous urography proofed to be more sensitive than ultrasonography in diagnosing urinary tract anomalies.

[Rare umbilical anomalies].

PubMed

Kysucan, J; Malý, T; Neoral, C

2010-12-01

Umbilicus is a scar, which is the place of the previous merger of the fetus with the umbilical cord. After birth, it has no known function, however, unless the umbilical annulus is completely closed, umbilical hernia may occur. Umbilical scar is also an area where may occur a number of anomalies that may be present alone or together with umbilical hernia. Failure of involution leads to persistence of omphalomesenteric duct and urachal remnants. These embryonic remnants may cause more or less significant clinical problems, or may be completely asymptomatic and may be diagnosed at random. The authors present their own group of patients who were diagnosed and dealt with the defect omphalomesenteric duct or urachus. In past 7 years we observed 35 children with these abnormalities. A large group of patients represents incidental findings during elective surgery for umbilical hernia. Another large group are patients with symptomatic or asymptomatic Meckel's diverticulum. The anatomical observations, clinical manifestations, complications and treatment of these anomalies are mentioned. A total of 35 children were found with these birth defects. In 23 cases we observed omphalomesenteric duct disorders and 12 urachal remnants were reported. Of these, 12 abnormalities were found incidentally during elative procedure for umbilical hernia. Asymptomatic or symptomatic Meckel's diverticulum appeared in 16 cases. Surgical treatment included resection or exstirpation, if urachal anomaly was accompanied then partial resection of the bladder vertex was added. Postoperative complications emerged in 4 cases, three times it was ileus from adhesions 6 months after surgery, once postoperative cystitis appeared and was treated conservatively. Birth abnormalities of the umbilicus are relatively rare diseases that may occur in the pediatric population. Omfalomesenteric duct and urachal anomalies constitute a major group of these congenital disorders and are often associated with umbilical

Continental magnetic anomaly constraints on continental reconstruction

NASA Technical Reports Server (NTRS)

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

1985-01-01

Crustal magnetic anomalies mapped by the MAGSAT satellite for North and South America, Europe, Africa, India, Australia and Antarctica and adjacent marine areas were adjusted to a common elevation of 400 km and differentially reduced to the radial pole of intensity 60,000 nT. These radially polarized anomalies are normalized for differential inclination, declination and intensity effects of the geomagnetic field, so that in principle they directly reflected the geometric and magnetic polarization attributes of sources which include regional petrologic variations of the crust and upper mantle, and crustal thickness and thermal perturbations. Continental anomalies demonstrate remarkably detailed correlation of regional magnetic sources across rifted margins when plotted on a reconstruction of Pangea. Accordingly, they suggest further fundamental constraints on the geologic evolution of the continents and their reconstructions.

Application of isostatic gravity anomaly in the Yellow Sea area

NASA Astrophysics Data System (ADS)

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

First and second trimester screening for fetal structural anomalies.

PubMed

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

Enhanced detection and visualization of anomalies in spectral imagery

NASA Astrophysics Data System (ADS)

Basener, William F.; Messinger, David W.

2009-05-01

Anomaly detection algorithms applied to hyperspectral imagery are able to reliably identify man-made objects from a natural environment based on statistical/geometric likelyhood. The process is more robust than target identification, which requires precise prior knowledge of the object of interest, but has an inherently higher false alarm rate. Standard anomaly detection algorithms measure deviation of pixel spectra from a parametric model (either statistical or linear mixing) estimating the image background. The topological anomaly detector (TAD) creates a fully non-parametric, graph theory-based, topological model of the image background and measures deviation from this background using codensity. In this paper we present a large-scale comparative test of TAD against 80+ targets in four full HYDICE images using the entire canonical target set for generation of ROC curves. TAD will be compared against several statistics-based detectors including local RX and subspace RX. Even a perfect anomaly detection algorithm would have a high practical false alarm rate in most scenes simply because the user/analyst is not interested in every anomalous object. To assist the analyst in identifying and sorting objects of interest, we investigate coloring of the anomalies with principle components projections using statistics computed from the anomalies. This gives a very useful colorization of anomalies in which objects of similar material tend to have the same color, enabling an analyst to quickly sort and identify anomalies of highest interest.

Understanding Magnetic Anomalies and Their Significance.

ERIC Educational Resources Information Center

Shea, James H.

1988-01-01

Describes a laboratory exercise testing the Vine-Matthews-Morley hypothesis of plate tectonics. Includes 14 questions with explanations using graphs and charts. Provides a historical account of the current plate tectonic and magnetic anomaly theory. (MVL)

Feeding Management in Infants with Craniofacial Anomalies.

PubMed

Merrow, Jill M

2016-11-01

The instinctual drive to gain nourishment can become complicated by structural differences, physiologic instability and environmental influences. Infants with craniofacial anomalies may experience significant feeding and swallowing difficulties related to the type and severity of the anomalies present as well as social-emotional interactions with caregivers. Typical outcome measures and feeding goals are discussed. Details regarding clinical and instrumental evaluation, including fiberoptic endoscopic evaluation of swallowing and modified barium swallow study, as well as management techniques are reported. Copyright © 2016 Elsevier Inc. All rights reserved.

Real-time anomaly detection for very short-term load forecasting

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

Luo, Jian; Hong, Tao; Yue, Meng

Although the recent load information is critical to very short-term load forecasting (VSTLF), power companies often have difficulties in collecting the most recent load values accurately and timely for VSTLF applications. This paper tackles the problem of real-time anomaly detection in most recent load information used by VSTLF. This paper proposes a model-based anomaly detection method that consists of two components, a dynamic regression model and an adaptive anomaly threshold. The case study is developed using the data from ISO New England. This paper demonstrates that the proposed method significantly outperforms three other anomaly detection methods including two methods commonlymore » used in the field and one state-of-the-art method used by a winning team of the Global Energy Forecasting Competition 2014. Lastly, a general anomaly detection framework is proposed for the future research.« less

Real-time anomaly detection for very short-term load forecasting

DOE PAGES

Luo, Jian; Hong, Tao; Yue, Meng

2018-01-06

Although the recent load information is critical to very short-term load forecasting (VSTLF), power companies often have difficulties in collecting the most recent load values accurately and timely for VSTLF applications. This paper tackles the problem of real-time anomaly detection in most recent load information used by VSTLF. This paper proposes a model-based anomaly detection method that consists of two components, a dynamic regression model and an adaptive anomaly threshold. The case study is developed using the data from ISO New England. This paper demonstrates that the proposed method significantly outperforms three other anomaly detection methods including two methods commonlymore » used in the field and one state-of-the-art method used by a winning team of the Global Energy Forecasting Competition 2014. Lastly, a general anomaly detection framework is proposed for the future research.« less

World Digital Magnetic Anomaly Map, development towards the Second Edition. (Invited)

NASA Astrophysics Data System (ADS)

Korhonen, J. V.

2009-12-01

Magnetic anomalies are small deviations in the Earth’s main magnetic field, caused by variation of magnetization in the uppermost lithosphere. Magnetic anomalies provide spatial key information for understanding the structure and evolution of the Earths crust. In practice these anomalies are used e.g. for assessment and prospecting of geological natural resources and planning of land use. A common way to calculate a magnetic anomaly value has been to subtract International Geomagnetic Reference Field (IGRF) from a total field measurement that is cleaned from short term variation of the Earth's magnetic field. World Digital Magnetic Anomaly Map (WDMAM) is a collaborative project between member organizations of International Association of Geomagnetism and Aeronomy (IAGA) and the Commission for Geological Map of the World (CGMW). The First Edition of the map was published in 2007. It consisted of a paper map 1:50 Million and a 3 minutes global grid of total field anomalies at an altitude of 5 km above the geoid. The First Edition was aimed to compile as much as possible available land and sea magnetic data, and homogenize it by comparing anomalies with a satellite magnetic lithospheric field model. This first version was prepared in a tight schedule, to show the usefulness of the map to the community and to form a basis for later development and future editions of the map. Hence, much was left to be improved for the second edition, including sparse coverage in two continents and all southern seas. The satellite models were understood to gain more detail in near future when the CHAMP-satellite would reach lower orbits, and hence higher resolution. The SWARM-satellite constellation was seen to produce even more suitable data in a few years thereafter. Ocean magnetic data sets required careful processing and leveling. The method of homogenization of anomalies included replacing long wavelength information by satellite model spectral data, and hence rejecting

Correlation of cerium anomalies with indicators of paleoenvironment

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

MacLeod, K.G.; Irving, A.J.

1996-09-01

Among 21 whole-rock samples of the Upper Cretaceous Niobrara Formation from Colorado, the abundance of cerium relative to other rate earth elements (Ce anomaly), the weight percent organic carbon (%C{sub org}), and the intensity of bioturbation all covary. This covariation is provocative because %C{sub org} and intensity of bioturbation track changes in the concentration of oxygen in the local water column at the time of deposition (Savrda and Bottjer 1989). Ce anomalies in apatite-rich fractions of the Maastrichtian Zumaya-Algorta Formation from France and Spain and the Miocene Monterey Formation from California show changes that also may coincide with changes inmore » ancient oxygen levels. Results for the Niobrara samples are the closest correspondence demonstrated between paleo-redox conditions and Ce anomalies, but the authors cannot yet determine whether the correspondence reflects a cause-and-effect relationship. Variation in Ce anomalies is influenced by a number of factors, including terrigenous input, depositional environment, and diagenetic conditions. Potential interplay of these factors prevents a unique interpretation of the whole-rock data; dissecting whole-rock Ce anomalies through analysis of isolated sedimentary components, though, is a promising avenue of research.« less

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

PubMed

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.

Fourth branchial complex anomalies: a case series.

PubMed

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.

Hyperbolic Orbits and the Planetary Flylby Anomaly

NASA Technical Reports Server (NTRS)

Wilson, T.L.; Blome, H.J.

2009-01-01

Space probes in the Solar System have experienced unexpected changes in velocity known as the flyby anomaly [1], as well as shifts in acceleration referred to as the Pioneer anomaly [2-4]. In the case of Earth flybys, ESA s Rosetta spacecraft experienced the flyby effect and NASA s Galileo and NEAR satellites did the same, although MESSENGER did not possibly due to a latitudinal property of gravity assists. Measurements indicate that both anomalies exist, and explanations have varied from the unconventional to suggestions that new physics in the form of dark matter might be the cause of both [5]. Although dark matter has been studied for over 30 years, there is as yet no strong experimental evidence supporting it [6]. The existence of dark matter will certainly have a significant impact upon ideas regarding the origin of the Solar System. Hence, the subject is very relevant to planetary science. We will point out here that one of the fundamental problems in science, including planetary physics, is consistency. Using the well-known virial theorem in astrophysics, it will be shown that present-day concepts of orbital mechanics and cosmology are not consistent for reasons having to do with the flyby anomaly. Therefore, the basic solution regarding the anomalies should begin with addressing the inconsistencies first before introducing new physics.

Current Evidence for Developmental, Structural, and Functional Brain Defects following Prenatal Radiation Exposure

PubMed Central

Verreet, Tine; Quintens, Roel; Baatout, Sarah; Benotmane, Mohammed A.

2016-01-01

Ionizing radiation is omnipresent. We are continuously exposed to natural (e.g., radon and cosmic) and man-made radiation sources, including those from industry but especially from the medical sector. The increasing use of medical radiation modalities, in particular those employing low-dose radiation such as CT scans, raises concerns regarding the effects of cumulative exposure doses and the inappropriate utilization of these imaging techniques. One of the major goals in the radioprotection field is to better understand the potential health risk posed to the unborn child after radiation exposure to the pregnant mother, of which the first convincing evidence came from epidemiological studies on in utero exposed atomic bomb survivors. In the following years, animal models have proven to be an essential tool to further characterize brain developmental defects and consequent functional deficits. However, the identification of a possible dose threshold is far from complete and a sound link between early defects and persistent anomalies has not yet been established. This review provides an overview of the current knowledge on brain developmental and persistent defects resulting from in utero radiation exposure and addresses the many questions that still remain to be answered. PMID:27382490

Identifying Threats Using Graph-based Anomaly Detection

NASA Astrophysics Data System (ADS)

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.

Non-local Effects of Conformal Anomaly

NASA Astrophysics Data System (ADS)

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.

Reliability of CHAMP Anomaly Continuations

NASA Technical Reports Server (NTRS)

vonFrese, Ralph R. B.; Kim, Hyung Rae; Taylor, Patrick T.; Asgharzadeh, Mohammad F.

2003-01-01

CHAMP is recording state-of-the-art magnetic and gravity field observations at altitudes ranging over roughly 300 - 550 km. However, anomaly continuation is severely limited by the non-uniqueness of the process and satellite anomaly errors. Indeed, our numerical anomaly simulations from satellite to airborne altitudes show that effective downward continuations of the CHAMP data are restricted to within approximately 50 km of the observation altitudes while upward continuations can be effective over a somewhat larger altitude range. The great unreliability of downward continuation requires that the satellite geopotential observations must be analyzed at satellite altitudes if the anomaly details are to be exploited most fully. Given current anomaly error levels, joint inversion of satellite and near- surface anomalies is the best approach for implementing satellite geopotential observations for subsurface studies. We demonstrate the power of this approach using a crustal model constrained by joint inversions of near-surface and satellite magnetic and gravity observations for Maude Rise, Antarctica, in the southwestern Indian Ocean. Our modeling suggests that the dominant satellite altitude magnetic anomalies are produced by crustal thickness variations and remanent magnetization of the normal polarity Cretaceous Quiet Zone.

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

PubMed

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.

Long-wavelength Magnetic and Gravity Anomaly Correlations of Africa and Europe

NASA Technical Reports Server (NTRS)

Vonfrese, R. R. B.; Hinze, W. J. (Principal Investigator); Olivier, R.

1984-01-01

Preliminary MAGSAT scalar magnetic anomaly data were compiled for comparison with long-wavelength-pass filtered free-air gravity anomalies and regional heat-flow and tectonic data. To facilitate the correlation analysis at satellite elevations over a spherical-Earth, equivalent point source inversion was used to differentially reduce the magnetic satellite anomalies to the radial pole at 350 km elevation, and to upward continue the first radial derivative of the free-air gravity anomalies. Correlation patterns between these regional geopotential anomaly fields are quantitatively established by moving window linear regression based on Poisson's theorem. Prominent correlations include direct correspondences for the Baltic Shield, where both anomalies are negative, and the central Mediterranean and Zaire Basin where both anomalies are positive. Inverse relationships are generally common over the Precambrian Shield in northwest Africa, the Basins and Shields in southern Africa, and the Alpine Orogenic Belt. Inverse correlations also presist over the North Sea Rifts, the Benue Rift, and more generally over the East African Rifts. The results of this quantitative correlation analysis support the general inverse relationships of gravity and magnetic anomalies observed for North American continental terrain which may be broadly related to magnetic crustal thickness variations.

Long-wavelength magnetic and gravity anomaly correlations on Africa and Europe

NASA Technical Reports Server (NTRS)

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

1985-01-01

Preliminary MAGSAT scalar magnetic anomaly data were compiled for comparison with long-wavelength-pass filtered free-air gravity anomalies and regional heat-flow and tectonic data. To facilitate the correlation analysis at satellite elevations over a spherical-Earth, equivalent point source inversion was used to differentially reduce the magnetic satellite anomalies to the radial pole at 350 km elevation, and to upward continue the first radial derivative of the free-air gravity anomalies. Correlation patterns between these regional geopotential anomaly fields are quantitatively established by moving window linear regression based on Poisson's theorem. Prominent correlations include direct correspondences for the Baltic shield, where both anomalies are negative, and the central Mediterranean and Zaire Basin where both anomalies are positive. Inverse relationships are generally common over the Precambrian Shield in northwest Africa, the Basins and Shields in southern Africa, and the Alpine Orogenic Belt. Inverse correlations also presist over the North Sea Rifts, the Benue Rift, and more generally over the East African Rifts. The results of this quantitative correlation analysis support the general inverse relationships of gravity and magnetic anomalies observed for North American continental terrain which may be broadly related to magnetic crustal thickness variations.

Coronary artery anomalies overview: The normal and the abnormal

PubMed Central

Villa, Adriana DM; Sammut, Eva; Nair, Arjun; Rajani, Ronak; Bonamini, Rodolfo; Chiribiri, Amedeo

2016-01-01

The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review. Based on the functional relevance of each abnormality, coronary artery anomalies can be classified as anomalies with obligatory ischemia, without ischemia or with exceptional ischemia. The clinical symptoms may include chest pain, dyspnea, palpitations, syncope, cardiomyopathy, arrhythmia, myocardial infarction and sudden cardiac death. Moreover, it is important to also identify variants and anomalies without clinical relevance in their own right as complications during surgery or angioplasty can occur. PMID:27358682

Birth weight and gestational age characteristics of children with autism, including a comparison with other developmental disabilities.

PubMed

Schendel, Diana; Bhasin, Tanya Karapurkar

2008-06-01

The objectives of this study were to compare the birth weight and gestational age distributions and prevalence rates of autism with those of other developmental disabilities and to estimate the birth weight-and gestational age-specific risks for autism. For the first objective, a retrospective cohort of children born in Atlanta, Georgia, in 1981-1993 who survived to 3 years of age was identified through vital records. Children in the cohort who had developmental disabilities (autism, mental retardation, cerebral palsy, hearing loss, or vision impairment) and were still residing in metropolitan Atlanta at 3 to 10 years of age were identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program. A nested case-control sample from the cohort was used for the second objective; all cohort children identified with autism were case participants, and control participants were cohort children who were not identified as having developmental disabilities or receiving special education services. The prevalence of autism in low birth weight or preterm children was markedly lower than those of other developmental disabilities. In multivariate analyses, birth weight of <2500 g and preterm birth at <33 weeks' gestation were associated with an approximately twofold increased risk for autism, although the magnitude of risk from these factors varied according to gender (higher in girls) and autism subgroup (higher for autism accompanied by other developmental disabilities). For example, a significant fourfold increased risk was observed in low birth weight girls for autism accompanied by mental retardation, whereas there was no significantly increased risk observed in low birth weight boys for autism alone. Gender and autism subgroup differences in birth weight and gestational age, resulting in lower gender ratios with declining birth weight or gestational age across all autism subgroups, might be markers for etiologic heterogeneity in autism.

Setting global research priorities for developmental disabilities, including intellectual disabilities and autism

PubMed Central

Tomlinson, Mark; Yasamy, M. Taghi; Emerson, Eric; Officer, Alana; Richler, Diane; Saxena, Shekhar

2015-01-01

Objectives The prevalence of intellectual disabilities (ID) has been estimated at 10.4/1000 worldwide with higher rates among children and adolescents in lower income countries. The objective of this paper is to address research priorities for development disabilities, notably intellectual disabilities and autism, at the global level and to propose the more rational use of scarce funds in addressing this under-investigated area. Methods An expert group was identified and invited to systematically list and score research questions. They applied the priority setting methodology of the Child Health and Nutrition Research Initiative (CHNRI) to generate research questions and to evaluate them using a set of five criteria: answerability, feasibility, applicability and impact, support within the context and equity. Findings The results of this process clearly indicated that the important priorities for future research related to the need for effective and efficient approaches to early intervention, empowerment of families supporting a person with developmental disability and to address preventable causes of poor health in people with ID and autism. Conclusions For the public health and other systems to become more effective in delivering appropriate support to persons with developmental disabilities, greater (and more targeted) investment in research is required to produce evidence of what works consistent with international human rights standards. PMID:24397279

The characteristics and distribution of dental anomalies in patients with cleft.

PubMed

Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

2011-01-01

Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

Pre-seismic anomalies from optical satellite observations: a review

NASA Astrophysics Data System (ADS)

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.

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

PubMed

Chitayat, D; Moore, L; Del Bigio, M R; MacGregor, D; Ben-Zeev, B; Hodgkinson, K; Deck, J; Stothers, T; Ritchie, S; Toi, A

1994-10-01

Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.

6d, Coulomb branch anomaly matching

NASA Astrophysics Data System (ADS)

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.

Prenatal counselling for congenital anomalies: a systematic review.

PubMed

Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

2016-07-01

Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling. Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised. Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts. Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

Visual analytics of anomaly detection in large data streams

NASA Astrophysics Data System (ADS)

Hao, Ming C.; Dayal, Umeshwar; Keim, Daniel A.; Sharma, Ratnesh K.; Mehta, Abhay

2009-01-01

Most data streams usually are multi-dimensional, high-speed, and contain massive volumes of continuous information. They are seen in daily applications, such as telephone calls, retail sales, data center performance, and oil production operations. Many analysts want insight into the behavior of this data. They want to catch the exceptions in flight to reveal the causes of the anomalies and to take immediate action. To guide the user in finding the anomalies in the large data stream quickly, we derive a new automated neighborhood threshold marking technique, called AnomalyMarker. This technique is built on cell-based data streams and user-defined thresholds. We extend the scope of the data points around the threshold to include the surrounding areas. The idea is to define a focus area (marked area) which enables users to (1) visually group the interesting data points related to the anomalies (i.e., problems that occur persistently or occasionally) for observing their behavior; (2) discover the factors related to the anomaly by visualizing the correlations between the problem attribute with the attributes of the nearby data items from the entire multi-dimensional data stream. Mining results are quickly presented in graphical representations (i.e., tooltip) for the user to zoom into the problem regions. Different algorithms are introduced which try to optimize the size and extent of the anomaly markers. We have successfully applied this technique to detect data stream anomalies in large real-world enterprise server performance and data center energy management.

Prevalence of Congenital Anomalies in Infants with in Utero Exposure to Antiretrovirals

PubMed Central

KNAPP, KATHERINE M.; BROGLY, SUSAN B.; MUENZ, DANIEL G.; SPIEGEL, HANS M.; CONWAY, DANIEL H.; SCOTT, GWENDOLYN B.; TALBOT, JEFFREY T.; SHAPIRO, DAVID E.; READ, JENNIFER S.

2011-01-01

Background While use of efficacious interventions, including antiretrovirals (ARVs), has reduced dramatically the rate of mother-to-child transmission (MTCT) of HIV, the safety of in utero ARV exposure remains of concern. Methods Data regarding 1112 infants enrolled in the International Maternal Pediatric Adolescent AIDS Clinical Trials Group (IMPAACT) protocol P1025 born between 2002 and 2007 were analyzed for this study. Congenital anomalies were classified based on the Metropolitan Atlanta Congenital Defects Program (MACDP) guidelines. Associations between congenital anomalies and timing of first in utero exposure to ARVs were evaluated by logistic regression analysis. Results 61 of the 1112 infants had congenital anomalies identified and confirmed, resulting in a prevalence of 5.49/100 live births (95%CI: 4.22–6.99). Among the 80 anomalies identified, the organ systems involved included: cardiovascular (n=33), musculoskeletal (n=15), renal (n=9), genitourinary (n=6), craniofacial (n=4), and central nervous system (n=2). First trimester exposure to efavirenz was associated with a significantly increased risk of congenital anomalies (OR 2.84, 95%CI: 1.13–7.16). No significant associations were observed between exposure to other individual ARVs or classes of ARVs started at any time during pregnancy and infant congenital anomalies. Conclusions The observed rate of congenital anomalies in this cohort is higher than previously reported for the general population, but is consistent with rates observed in other recent studies of children born to HIV-infected women. Cardiovascular anomalies occurred most frequently. With the exception of a known teratogen (efavirenz), no statistically significant associations between in utero exposure to ARVs and congenital anomalies were identified. PMID:21983213

Thermal expansion anomaly regulated by entropy.

PubMed

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

2014-11-13

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.

Thermal Expansion Anomaly Regulated by Entropy

NASA Astrophysics Data System (ADS)

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.

Long wavelength gravity and topography anomalies

NASA Technical Reports Server (NTRS)

Watts, A. B.; Daly, S. F.

1981-01-01

It is shown that gravity and topography anomalies on the earth's surface may provide new information about deep processes occurring in the earth, such as those associated with mantle convection. Two main reasons are cited for this. The first is the steady improvement that has occurred in the resolution of the long wavelength gravity field, particularly in the wavelength range of a few hundred to a few thousand km, mainly due to increased coverage of terrestrial gravity measurements and the development of radar altimeters in orbiting satellites. The second reason is the large number of numerical and laboratory experiments of convection in the earth, including some with deformable upper and lower boundaries and temperature-dependent viscosity. The oceans are thought to hold the most promise for determining long wavelength gravity and topography anomalies, since their evolution has been relatively simple in comparison with that of the continents. It is also shown that good correlation between long wavelength gravity and topography anomalies exists over some portions of the ocean floor

Satellite GN and C Anomaly Trends

NASA Technical Reports Server (NTRS)

Robertson, Brent; Stoneking, Eric

2003-01-01

On-orbit anomaly records for satellites launched from 1990 through 2001 are reviewed to determine recent trends of un-manned space mission critical failures. Anomalies categorized by subsystems show that Guidance, Navigation and Control (GN&C) subsystems have a high number of anomalies that result in a mission critical failure when compared to other subsystems. A mission critical failure is defined as a premature loss of a satellite or loss of its ability to perform its primary mission during its design life. The majority of anomalies are shown to occur early in the mission, usually within one year from launch. GN&C anomalies are categorized by cause and equipment type involved. A statistical analysis of the data is presented for all anomalies compared with the GN&C anomalies for various mission types, orbits and time periods. Conclusions and recommendations are presented for improving mission success and reliability.

Behavioral economics without anomalies.

PubMed Central

Rachlin, H

1995-01-01

Behavioral economics is often conceived as the study of anomalies superimposed on a rational system. As research has progressed, anomalies have multiplied until little is left of rationality. Another conception of behavioral economics is based on the axiom that value is always maximized. It incorporates so-called anomalies either as conflicts between temporal patterns of behavior and the individual acts comprising those patterns or as outcomes of nonexponential time discounting. This second conception of behavioral economics is both empirically based and internally consistent. PMID:8551195

Study of gravity and magnetic anomalies using MAGSAT data

NASA Technical Reports Server (NTRS)

Braile, L. W.; Hinze, W. J.; Vonfrese, R. R. B. (Principal Investigator)

1981-01-01

The results of modeling satellite-elevation magnetic and gravity data using the constraints imposed by near surface data and seismic evidence shows that the magnetic minimum can be accounted for by either an intracrustal lithologic variation or by an upwarp of the Curie point isotherm. The long wavelength anomalies of the NOO's-vector magnetic survey of the conterminous U.S. were contoured and processed by various frequency filters to enhance particular characteristics. A preliminary inversion of the data was completed and the anomaly field calculated at 450 km from the equivalent magnet sources to compare with the POGO satellite data. Considerable progress was made in studing the satellite magnetic data of South America and adjacent marine areas. Preliminary versions of the 1 deg free-air gravity anomaly map (20 m gal contour interval) and the high cut (lambda approximately 8 deg) filtered anomaly maps are included.

[Mass anomalies of the extremities in anurans].

PubMed

Kovalenko, E E

2000-01-01

The author analyses literature data on anomalies of limbs in Anura. It is shown that published data is usually not enough to discuss either conditions of appearance or the causes of anomalies. Traditional statistical methods does not adequately characterise the frequency of anomalies. The author suggests a new criteria for ascertaining the fact of appearance of mass anomalies. A number of experimental data don't correspond to current theoretical ideas about the nature of anomalies. It is considered to distinguish "background" and "mass" anomalies. "Background" anomalies can not be a good indicator of unfavourable condition of development.

Robust and efficient anomaly detection using heterogeneous representations

NASA Astrophysics Data System (ADS)

Hu, Xing; Hu, Shiqiang; Xie, Jinhua; Zheng, Shiyou

2015-05-01

Various approaches have been proposed for video anomaly detection. Yet these approaches typically suffer from one or more limitations: they often characterize the pattern using its internal information, but ignore its external relationship which is important for local anomaly detection. Moreover, the high-dimensionality and the lack of robustness of pattern representation may lead to problems, including overfitting, increased computational cost and memory requirements, and high false alarm rate. We propose a video anomaly detection framework which relies on a heterogeneous representation to account for both the pattern's internal information and external relationship. The internal information is characterized by slow features learned by slow feature analysis from low-level representations, and the external relationship is characterized by the spatial contextual distances. The heterogeneous representation is compact, robust, efficient, and discriminative for anomaly detection. Moreover, both the pattern's internal information and external relationship can be taken into account in the proposed framework. Extensive experiments demonstrate the robustness and efficiency of our approach by comparison with the state-of-the-art approaches on the widely used benchmark datasets.

Extending TOPS: Ontology-driven Anomaly Detection and Analysis System

NASA Astrophysics Data System (ADS)

Votava, P.; Nemani, R. R.; Michaelis, A.

2010-12-01

Terrestrial Observation and Prediction System (TOPS) is a flexible modeling software system that integrates ecosystem models with frequent satellite and surface weather observations to produce ecosystem nowcasts (assessments of current conditions) and forecasts useful in natural resources management, public health and disaster management. We have been extending the Terrestrial Observation and Prediction System (TOPS) to include a capability for automated anomaly detection and analysis of both on-line (streaming) and off-line data. In order to best capture the knowledge about data hierarchies, Earth science models and implied dependencies between anomalies and occurrences of observable events such as urbanization, deforestation, or fires, we have developed an ontology to serve as a knowledge base. We can query the knowledge base and answer questions about dataset compatibilities, similarities and dependencies so that we can, for example, automatically analyze similar datasets in order to verify a given anomaly occurrence in multiple data sources. We are further extending the system to go beyond anomaly detection towards reasoning about possible causes of anomalies that are also encoded in the knowledge base as either learned or implied knowledge. This enables us to scale up the analysis by eliminating a large number of anomalies early on during the processing by either failure to verify them from other sources, or matching them directly with other observable events without having to perform an extensive and time-consuming exploration and analysis. The knowledge is captured using OWL ontology language, where connections are defined in a schema that is later extended by including specific instances of datasets and models. The information is stored using Sesame server and is accessible through both Java API and web services using SeRQL and SPARQL query languages. Inference is provided using OWLIM component integrated with Sesame.

Heat flow anomalies and their interpretation

NASA Astrophysics Data System (ADS)

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

Development of anomaly detection models for deep subsurface monitoring

NASA Astrophysics Data System (ADS)

Sun, A. Y.

2017-12-01

Deep subsurface repositories are used for waste disposal and carbon sequestration. Monitoring deep subsurface repositories for potential anomalies is challenging, not only because the number of sensor networks and the quality of data are often limited, but also because of the lack of labeled data needed to train and validate machine learning (ML) algorithms. Although physical simulation models may be applied to predict anomalies (or the system's nominal state for that sake), the accuracy of such predictions may be limited by inherent conceptual and parameter uncertainties. The main objective of this study was to demonstrate the potential of data-driven models for leakage detection in carbon sequestration repositories. Monitoring data collected during an artificial CO2 release test at a carbon sequestration repository were used, which include both scalar time series (pressure) and vector time series (distributed temperature sensing). For each type of data, separate online anomaly detection algorithms were developed using the baseline experiment data (no leak) and then tested on the leak experiment data. Performance of a number of different online algorithms was compared. Results show the importance of including contextual information in the dataset to mitigate the impact of reservoir noise and reduce false positive rate. The developed algorithms were integrated into a generic Web-based platform for real-time anomaly detection.

Equilibrium Atmospheric Response to North Atlantic SST Anomalies.

NASA Astrophysics Data System (ADS)

Kushnir, Yochanan; Held, Isaac M.

1996-06-01

The equilibrium general circulation model (GCM) response to sea surface temperature (SST) anomalies in the western North Atlantic region is studied. A coarse resolution GCM, with realistic lower boundary conditions including topography and climatological SST distribution, is integrated in perpetual January and perpetual October modes, distinguished from one another by the strength of the midlatitude westerlies. An SST anomaly with a maximum of 4°C is added to the climatological SST distribution of the model with both positive and negative polarity. These anomaly runs are compared to one another, and to a control integration, to determine the atmospheric response. In all cases warming (cooling) of the midlatitude ocean surface yields a warming (cooling) of the atmosphere over and to the east of the SST anomaly center. The atmospheric temperature change is largest near the surface and decreases upward. Consistent with this simple thermal response, the geopotential height field displays a baroclinic response with a shallow anomalous low somewhat downstream from the warm SST anomaly. The equivalent barotropic, downstream response is weak and not robust. To help interpret the results, the realistic GCM integrations are compared with parallel idealized model runs. The idealized model has full physics and a similar horizontal and vertical resolution, but an all-ocean surface with a single, permanent zonal asymmetry. The idealized and realistic versions of the GCM display compatible response patterns that are qualitatively consistent with stationary, linear, quasigeostrophic theory. However, the idealized model response is stronger and more coherent. The differences between the two model response patterns can be reconciled based on the size of the anomaly, the model treatment of cloud-radiation interaction, and the static stability of the model atmosphere in the vicinity of the SST anomaly. Model results are contrasted with other GCM studies and observations.

New therapies for vascular anomalies of the gastrointestinal tract.

PubMed

Fox, Victor L

2018-06-01

Vascular anomalies are a morphologically and biologically diverse group of vascular channel abnormalities that are often congenital but may evolve or change over time in the developing child. Classification is based on a combination of physical and biological properties and clinical behavior that differentiate primarily between tumors and malformations and includes a few provisionally unclassified lesions. Anomalies of the gastrointestinal (GI) tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. This review focuses on new therapies for the treatment of GI bleeding. Important new pharmacological therapies include treatment of hemangioma with non-selective and selective beta-antagonist agents, propranolol and atenolol, and treatment of blue rubber bleb nevus syndrome and cutaneo-visceral angiomatosis with thrombocytopenia (also known as multifocal lymphangioendotheliomatosis with thrombocytopenia) with sirolimus, an inhibitor of the mammalian target of rapamycin. Therapeutic endoscopy may offer an effective alternative to bowel resection for colonic varices and other focal vascular anomalies of the GI tract that fail to respond to pharmacological therapy.

Presentation and Treatment of Poland Anomaly.

PubMed

Buckwalter V, Joseph A; Shah, Apurva S

2016-12-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition.

Presentation and Treatment of Poland Anomaly

PubMed Central

Buckwalter V, Joseph A.; Shah, Apurva S.

2016-01-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition. PMID:28149203

Fast-track surgery concepts for congenital urogenital anomalies.

PubMed

Bizic, Marta R; Majstorovic, Marko J; Vukadinovic, Vojkan; Korac, Gradimir; Krstic, Zoran; Radojicic, Zoran; Ducic, Sinisa; Djordjevic, Miroslav L

2013-01-01

To investigate the possibility of fast-track surgery concepts in pediatric urology department as a single center study model of a developing country. The study included 1620 patients surgically treated at the pediatric urology department, from 2009 to 2011. According to the congenital anomalies, all patients were classified in one of four groups: I - testicular anomalies (197 patients); II - external genital anomalies (453); III - upper urinary tract anomalies (801) and IV - associated anomalies (169). We analyzed the total duration of stay in the hospital of all patients among all treating doctors concerning the anomaly. Statistically significant difference in total length of hospitalization of all patients in Group I was noted in Doctors 1 and 5 (F=10.36** for F0.05;5;12=3.11 and F0.01;5;12=5.06), as well as in the Group II (F=17.01** for F0.05;5;12=3.11 and F0.01;5;12=5.06). Statistical analysis was not possible to be performed in groups III and IV because of lack of the patients. Analyzing the length of hospitalization of the patients treated at the urology department, all doctors showed the tendency to shorten the total length of hospitalization in patients of all groups. Majority of the studies carried out on pediatric urology departments in developed countries, showed that over 50% of children were successfully treated using fast-track surgery concept. Modern methods of surgical management and anesthesia allow decrease of hospitalization length, financial savings to the healthcare system and better comfort for patients.

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

PubMed

Lee, Cha Gon; Park, Sang-Jin; Yim, Shin-Young; Sohn, Young Bae

2013-08-01

Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several studies, the critical PTLS region was deduced to be 1.3Mb in length, and included RAI1 and 17 other genes. We report a 3-year-old Korean boy with the smallest duplication in 17p11.2 and a milder phenotype. He had no family history of neurologic disease or developmental delay and no history of seizure, autistic features, or behavior problems. He showed subtle facial dysmorphic features (dolichocephaly and a mildly asymmetric smile) and flat feet. All laboratory tests were normal and he had no evidence of internal organ anomalies. He was found to have mild intellectual disabilities (full scale IQ 65 on K-WPPSI) and language developmental delay (age of 2.2year-old on PRESS). Array comparative genomic hybridization (CGH) showed about a 0.25Mb microduplication on chromosome 17p11.2 containing four Refseq (NCBI reference sequence) genes, including RAI1 [arr 17p11.2(17,575,978-17,824,623)×3]. When compared with previously reported cases, the milder phenotype of our patient may be associated with the smallest duplication in 17p11.2, 0.25Mb in length. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Gravity Anomalies

NASA Image and Video Library

2015-04-15

Analysis of radio tracking data have enabled maps of the gravity field of Mercury to be derived. In this image, overlain on a mosaic obtained by MESSENGER's Mercury Dual Imaging System and illuminated with a shape model determined from stereo-photoclinometry, Mercury's gravity anomalies are depicted in colors. Red tones indicate mass concentrations, centered on the Caloris basin (center) and the Sobkou region (right limb). Such large-scale gravitational anomalies are signatures of subsurface structure and evolution. The north pole is near the top of the sunlit area in this view. http://photojournal.jpl.nasa.gov/catalog/PIA19285

System for closure of a physical anomaly

DOEpatents

Bearinger, Jane P; Maitland, Duncan J; Schumann, Daniel L; Wilson, Thomas S

2014-11-11

Systems for closure of a physical anomaly. Closure is accomplished by a closure body with an exterior surface. The exterior surface contacts the opening of the anomaly and closes the anomaly. The closure body has a primary shape for closing the anomaly and a secondary shape for being positioned in the physical anomaly. The closure body preferably comprises a shape memory polymer.

Road Anomalies Detection System Evaluation.

PubMed

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.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

PubMed Central

Lu, Weining; van Eerde, Albertien M.; Fan, Xueping; Quintero-Rivera, Fabiola; Kulkarni, Shashikant; Ferguson, Heather; Kim, Hyung-Goo; Fan, Yanli; Xi, Qiongchao; Li, Qing-gang; Sanlaville, Damien; Andrews, William; Sundaresan, Vasi; Bi, Weimin; Yan, Jiong; Giltay, Jacques C.; Wijmenga, Cisca; de Jong, Tom P. V. M.; Feather, Sally A.; Woolf, Adrian S.; Rao, Yi; Lupski, James R.; Eccles, Michael R.; Quade, Bradley J.; Gusella, James F.; Morton, Cynthia C.; Maas, Richard L.

2007-01-01

Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults. We investigated a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupts ROBO2, which encodes a transmembrane receptor for SLIT ligand, and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. In addition, we identified two novel ROBO2 intracellular missense variants that segregate with CAKUT and VUR in two unrelated families. Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR. PMID:17357069

Reduced to pole long-wavelength magnetic anomalies of Africa and Europe

NASA Technical Reports Server (NTRS)

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

1985-01-01

To facilitate analysis of the tectonic framework for Africa, Europe and adjacent marine areas, MAGSAT scalar anomaly data are differentially reduced to the pole and compared to regional geologic information and geophysical data including surface free-air gravity anomaly data upward continued to satellite elevation (350 km) on a spherical Earth. Comparative analysis shows magnetic anomalies correspond with both ancient as well as more recent Cenozoic structural features. Anomalies associated with ancient structures are primarily caused by intra-crustal lithologic variations such as the crustal disturbance associated with the Bangui anomaly in west-central Africa. Anomalies correlative with Cenozoic tectonic elements appear to be related to Curie isotherm perturbations. A possible example of the latter is the well-defined trend of magnetic minima that characterize the Alphine orogenic belt from the Atlas mountains to Eurasia. In contrast, a well-defined magnetic satellite minimum extends across the stable craton from Finland to the Ural mountains. Prominent magnetic maxima characterize the Arabian plate, Iceland, the Kursk region of the central Russian uplift, and generally the Precambrian shields of Africa.

Reduced to Pole Long-wavelength Magnetic Anomalies of Africa and Europe

NASA Technical Reports Server (NTRS)

Hinze, W. J.; Vonfrese, R. R. B. (Principal Investigator); Olivier, R.

1984-01-01

To facilitate analysis of the tectonic framework for Africa, Europe and adjacent marine areas, MAGSAT scalar anomaly data are differentially reduced to the pole and compared to regional geologic information and geophysical data including surface free-air gravity anomaly data upward continued to satellite elevation (350 km) on a spherical Earth. Comparative analysis shows magnetic anomalies correspond with both ancient as well as more recent Cenozoic structural features. Anomalies associated with ancient structures are primarily caused by intra-crustal lithologic variations such as the crustal disturbance associated with the Bangui anomaly in west-central Africa. Anomalies correlative with Cenozoic tectonic elements appear to be related to Curie isotherm perturbations. A possible example of the latter is the well-defined trend of magnetic minima that characterize the Alpine orogenic belt from the Atlas mountains to Eurasia. In contrast, a well-defined magnetic satellite minimum extends across the stable craton from Finland to the Ural mountains. Prominent magnetic maxima characterize the Arabian plate, Iceland, the Kursk region of the central Russian uplift, and generally the Precambrian shields of Africa.

Development of a Preschool Developmental Assessment Scale for Assessment of Developmental Disabilities

ERIC Educational Resources Information Center

Leung, Cynthia; Mak, Rose; Lau, Vanessa; Cheung, Jasmine; Lam, Catherine

2010-01-01

The aim of this paper was to describe the development of the cognitive domain of the Preschool Developmental Assessment Scale (PDAS) for assessment of preschool children with developmental disabilities. The initial version of the cognitive domain consisted of 87 items. They were administered to 324 preschool children, including 240 children from…

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

PubMed

Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth

2018-01-04

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Congenital hand anomalies in Upper Egypt

PubMed Central

Abulezz, Tarek; Talaat, Mohamed; Elsani, Asem; Allam, Karam

2016-01-01

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. PMID:27833283

Global anomalies and effective field theory

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

Golkar, Siavash; Sethi, Savdeep

2016-05-17

Here, we show that matching anomalies under large gauge transformations and large diffeomorphisms can explain the appearance and non-renormalization of couplings in effective field theory. We focus on thermal effective field theory, where we argue that the appearance of certain unusual Chern-Simons couplings is a consequence of global anomalies. As an example, we show that a mixed global anomaly in four dimensions fixes the chiral vortical effect coefficient (up to an overall additive factor). This is an experimentally measurable prediction from a global anomaly. For certain situations, we propose a simpler method for calculating global anomalies which uses correlation functionsmore » rather than eta invariants.« less

Concurrence of lower jaw skeletal anomalies in triploid Atlantic salmon (Salmo salar L.) and the effect on growth in freshwater.

PubMed

Amoroso, G; Cobcroft, J M; Adams, M B; Ventura, T; Carter, C G

2016-12-01

Triploid Atlantic salmon populations are associated with higher prevalence of lower jaw skeletal anomalies affecting fish performance, welfare and value deleteriously. Anomalous lower jaw can be curved downward (LJD), shortened (SJ) or misaligned (MA). Two separate groups of triploid Atlantic salmon (~12 g) with either normal lower jaw (NOR) or SJ were visually assessed four times over three months for presence and concurrence of jaw anomalies (with severity classified) and opercular shortening to understand the relatedness of these anomalous developmental processes. The prevalence of jaw anomalies increased in both groups over time (NOR group - SJ, LJD and MA combined 0-24.5%; SJ group - LJD and MA combined 17-31%). SJ and LJD occurred both independently and concurrently whereas MA exclusively concurred with them. All three anomalies could be concurrent. Severity of both LJD and SJ increased in the SJ group only. Opercular shortening recovery was observed in both groups but at a slower rate in the SJ group. The SJ group specific growth rate (SGR) was significantly (P < 0.05) lower than the NOR group. This study demonstrated the concurrence of SJ, LJD and MA and showed possible deleterious consequences deriving from the conditions. © 2016 John Wiley & Sons Ltd.

DEVELOPMENTAL DIVERSITY OF AMPHIBIANS

PubMed Central

Elinson, Richard P.; del Pino, Eugenia M.

2011-01-01

The current model amphibian, Xenopus laevis, develops rapidly in water to a tadpole which metamorphoses into a frog. Many amphibians deviate from the X. laevis developmental pattern. Among other adaptations, their embryos develop in foam nests on land or in pouches on their mother’s back or on a leaf guarded by a parent. The diversity of developmental patterns includes multinucleated oogenesis, lack of RNA localization, huge non-pigmented eggs, and asynchronous, irregular early cleavages. Variations in patterns of gastrulation highlight the modularity of this critical developmental period. Many species have eliminated the larva or tadpole and directly develop to the adult. The wealth of developmental diversity among amphibians coupled with the wealth of mechanistic information from X. laevis permit comparisons that provide deeper insights into developmental processes. PMID:22662314

System and method for anomaly detection

DOEpatents

Scherrer, Chad

2010-06-15

A system and method for detecting one or more anomalies in a plurality of observations is provided. In one illustrative embodiment, the observations are real-time network observations collected from a stream of network traffic. The method includes performing a discrete decomposition of the observations, and introducing derived variables to increase storage and query efficiencies. A mathematical model, such as a conditional independence model, is then generated from the formatted data. The formatted data is also used to construct frequency tables which maintain an accurate count of specific variable occurrence as indicated by the model generation process. The formatted data is then applied to the mathematical model to generate scored data. The scored data is then analyzed to detect anomalies.

First branchial cleft anomalies: presentation, variability and safe surgical management.

PubMed

Magdy, Emad A; Ashram, Yasmine A

2013-05-01

First branchial cleft (FBC) anomalies are uncommon. The aim of this retrospective clinical study is to describe our experience in dealing with these sporadically reported lesions. Eighteen cases presenting with various FBC anomalies managed surgically during an 8-year period at a tertiary referral medical institution were included. Ten were males (56 %) and eight females (44 %) with age range 3-18 years. Anomaly was right-sided in 12 cases (67 %). None were bilateral. Nine patients (50 %) had prior abscess incision and drainage procedures ranging from 1 to 9 times. Two also had previous unsuccessful surgical excisions. Clinical presentations included discharging tract openings in external auditory canal/conchal bowl (n = 9), periauricular (n = 6), or upper neck (n = 4); cystic postauricular, parotid or upper neck swellings (n = 5); and eczematous scars (n = 9). Three distinct anatomical types were encountered: sinuses (n = 7), fistulas (n = 6), and cysts (n = 5). Complete surgical excision required superficial parotidectomy in 11 patients (61 %). Anomaly was deep to facial nerve (FN) in three cases (17 %), in-between its branches in two (11 %) and superficial (but sometimes adherent to the nerve) in remaining cases (72 %). Continuous intraoperative electrophysiological FN monitoring was used in all cases. Two cases had postoperative temporary lower FN paresis that recovered within 2 months. No further anomaly manifestation was observed after 49.8 months' mean postoperative follow-up (range 10-107 months). This study has shown that awareness of different presentations and readiness to identify and protect FN during surgery is essential for successful management of FBC anomalies. Intraoperative electrophysiological FN monitoring can help in that respect.

Anomalies and gravity

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

Mielke, Eckehard W.

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.

Firefly Algorithm in detection of TEC seismo-ionospheric anomalies

NASA Astrophysics Data System (ADS)

Akhoondzadeh, Mehdi

2015-07-01

Anomaly detection in time series of different earthquake precursors is an essential introduction to create an early warning system with an allowable uncertainty. Since these time series are more often non linear, complex and massive, therefore the applied predictor method should be able to detect the discord patterns from a large data in a short time. This study acknowledges Firefly Algorithm (FA) as a simple and robust predictor to detect the TEC (Total Electron Content) seismo-ionospheric anomalies around the time of the some powerful earthquakes including Chile (27 February 2010), Varzeghan (11 August 2012) and Saravan (16 April 2013). Outstanding anomalies were observed 7 and 5 days before the Chile and Varzeghan earthquakes, respectively and also 3 and 8 days prior to the Saravan earthquake.

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

PubMed

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.

The association between Mullerian anomalies and IUGR: a meta-analysis.

PubMed

Karami, Manoochehr; Jenabi, Ensiyeh

2018-02-05

Published literature regarding the association between Mullerian anomalies and intrauterine growth restriction (IUGR) is controversial. To date, no meta-analysis has been performed for assessing the relationship between the Mullerian anomalies and IUGR. Therefore, the aim of this study was to perform a meta-analysis by combining data from relevant studies to assessing the association of between Mullerian anomalies and IUGR. A systematic search was conducted in PubMed, Scopus and Web of Science to identify of all studies prior to September 2017. Egger's and Begg's tests were carried out to quantitatively assess publication bias. To estimate the heterogeneity among studies the Q-statistic test and I-squared (I 2 ) test were used. The random-effects model was conducted to obtain pooled odds ratio (OR) as a measure of the association between Mullerian anomalies and IUGR. A total of seven studies were included in this meta-analysis with a sample of 605,005 participants. The pooled overall OR was 1.93 (95% CI: 1.52, 2.34). We reported that mullerian anomalies are a risk factor for IUGR. However, further evidence by larger prospective cohort studies is needed to make conclusive evidence regarding the association between mullerian anomalies and IUGR.

The Interplay between Emotion and Cognition in Autism Spectrum Disorder: Implications for Developmental Theory

PubMed Central

Gaigg, Sebastian B.

2012-01-01

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is clinically defined by abnormalities in reciprocal social and communicative behaviors and an inflexible adherence to routinised patterns of thought and behavior. Laboratory studies repeatedly demonstrate that autistic individuals experience difficulties in recognizing and understanding the emotional expressions of others and naturalistic observations show that they use such expressions infrequently and inappropriately to regulate social exchanges. Dominant theories attribute this facet of the ASD phenotype to abnormalities in a social brain network that mediates social-motivational and social-cognitive processes such as face processing, mental state understanding, and empathy. Such theories imply that only emotion related processes relevant to social cognition are compromised in ASD but accumulating evidence suggests that the disorder may be characterized by more widespread anomalies in the domain of emotions. In this review I summarize the relevant literature and argue that the social-emotional characteristics of ASD may be better understood in terms of a disruption in the domain-general interplay between emotion and cognition. More specifically I will suggest that ASD is the developmental consequence of early emerging anomalies in how emotional responses to the environment modulate a wide range of cognitive processes including those that are relevant to navigating the social world. PMID:23316143

The Interplay between Emotion and Cognition in Autism Spectrum Disorder: Implications for Developmental Theory.

PubMed

Gaigg, Sebastian B

2012-01-01

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is clinically defined by abnormalities in reciprocal social and communicative behaviors and an inflexible adherence to routinised patterns of thought and behavior. Laboratory studies repeatedly demonstrate that autistic individuals experience difficulties in recognizing and understanding the emotional expressions of others and naturalistic observations show that they use such expressions infrequently and inappropriately to regulate social exchanges. Dominant theories attribute this facet of the ASD phenotype to abnormalities in a social brain network that mediates social-motivational and social-cognitive processes such as face processing, mental state understanding, and empathy. Such theories imply that only emotion related processes relevant to social cognition are compromised in ASD but accumulating evidence suggests that the disorder may be characterized by more widespread anomalies in the domain of emotions. In this review I summarize the relevant literature and argue that the social-emotional characteristics of ASD may be better understood in terms of a disruption in the domain-general interplay between emotion and cognition. More specifically I will suggest that ASD is the developmental consequence of early emerging anomalies in how emotional responses to the environment modulate a wide range of cognitive processes including those that are relevant to navigating the social world.

Aeromagnetic anomalies over faulted strata

USGS Publications Warehouse

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.).

Oceanwide gravity anomalies from Geos-3, Seasat and Geosat altimeter data

NASA Technical Reports Server (NTRS)

Rapp, Richard H.; Basic, Tomislav

1992-01-01

Three kinds of satellite altimeter data have been combined, along with 5 x 5 arcmin bathymetric data, to calculate a 0.125 deg ocean wide gridded set of 2.3 x 10 exp 6 free-air gravity anomalies. The procedure used was least squares collocation that yields the predicted anomaly and standard deviation. The value of including the bathymetric data was shown in a test around the Dowd Seamount where the root mean square (rms) difference between ship gravity measurements decreased from +/- 40 mgal to +/- 20 mgal when the bathymetry was included. Comparisons between the predicted anomalies and ship gravity data is described in three cases. In the Banda Sea the rms differences were +/- 20 mgal for two lines. In the South Atlantic rms differences over lines of 2000 km in length were +/- 7 mgal. For cruise data in the Antarctica region the discrepancies were +/- 12 mgal. Comparisons of anomalies derived from the Geosat geodetic mission data by Marks and McAdoo (1992) with ship dta gave differences of +/- 6 mgal showing the value of the much denser Geosat geodetic mission altimeter data.

Toward Baseline Software Anomalies in NASA Missions

NASA Technical Reports Server (NTRS)

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.

Aircraft Anomaly Detection Using Performance Models Trained on Fleet Data

NASA Technical Reports Server (NTRS)

Gorinevsky, Dimitry; Matthews, Bryan L.; Martin, Rodney

2012-01-01

This paper describes an application of data mining technology called Distributed Fleet Monitoring (DFM) to Flight Operational Quality Assurance (FOQA) data collected from a fleet of commercial aircraft. DFM transforms the data into aircraft performance models, flight-to-flight trends, and individual flight anomalies by fitting a multi-level regression model to the data. The model represents aircraft flight performance and takes into account fixed effects: flight-to-flight and vehicle-to-vehicle variability. The regression parameters include aerodynamic coefficients and other aircraft performance parameters that are usually identified by aircraft manufacturers in flight tests. Using DFM, the multi-terabyte FOQA data set with half-million flights was processed in a few hours. The anomalies found include wrong values of competed variables, (e.g., aircraft weight), sensor failures and baises, failures, biases, and trends in flight actuators. These anomalies were missed by the existing airline monitoring of FOQA data exceedances.

Branchial anomalies in the pediatric population.

PubMed

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.

Contribution of Temperature and Precipitation Anomalies to the Ongoing California Drought

NASA Astrophysics Data System (ADS)

Luo, L.; Apps, D.; Arcand, S. E.

2015-12-01

The ongoing multiyear drought over California is a major concern for the residents of the golden state as it brings water restrictions in preparing for water shortages and wild fires due to dry and hot conditions. Both positive temperature and negative precipitation anomalies can contribute to drought developments, but how important are these anomalies for the ongoing California drought? Using the VIC hydrological model, this study investigated the relative contribution of temperature and precipitation anomalies to the ongoing 2011-2015 drought in comparison with another multiyear drought between 1987 and 1992 over the same region. By swapping the observed temperature and precipitation anomalies between two drought events, the study was able to show how temperature and precipitation anomalies and their spatial variability affect other elements of the hydrological cycle including evapotranspiration, soil moisture and streamflow, thus the severity of the drought. The comparison between these two events helps to reveal the unique characteristics of the current drought and provides useful insights for drought prediction and mitigation.

Gravitational parity anomaly with and without boundaries

NASA Astrophysics Data System (ADS)

Kurkov, Maxim; Vassilevich, Dmitri

2018-03-01

In this paper we consider gravitational parity anomaly in three and four dimensions. We start with a re-computation of this anomaly on a 3D manifold without boundaries and with a critical comparison of our results to the previous calculations. Then we compute the anomaly on 4D manifolds with boundaries with local bag boundary conditions. We find, that gravitational parity anomaly is localized on the boundary and contains a gravitational Chern-Simons terms together with a term depending of the extrinsic curvature. We also discuss the main properties of the anomaly, as the conformal invariance, relations between 3D and 4D anomalies, etc.

Dental anomalies in pediatric patients with familial adenomatous polyposis.

PubMed

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.

A developmental-psychobiological approach to developmental neuropsychology.

PubMed

Michel, G F

2001-01-01

Although both developmental psychobiology and developmental neuropsychology examine the interface between biological and psychological processes, they differ in conceptual framework. This article argues for the incorporation into developmental neuropsychology of certain aspects of the conceptual framework of developmental psychobiology. Three principles of dynamic psychobiological interaction are described and applied to four issues in neuropsychology (handedness, sex differences in behavior, critical periods, and modularity of structure-function relations). Then, it is proposed that developmental psychobiology can make four direct contributions to developmental neuropsychology. Finally, it is argued that the value of the conceptual framework provided by developmental psychobiology depends, in part, on how well it translates into procedures that can be applied in the clinical settings of the developmental neuropsychologist.

Chornobyl 30 years later: Radiation, pregnancies, and developmental anomalies in Rivne, Ukraine.

PubMed

Wertelecki, Wladimir; Chambers, Christina D; Yevtushok, Lyubov; Zymak-Zakutnya, Natalya; Sosyniuk, Zoriana; Lapchenko, Serhiy; Ievtushok, Bogdana; Akhmedzhanova, Diana; Komov, Oleksandr

2017-01-01

In the 30 years since the Chornobyl nuclear power plant disaster, there is evidence of persistent levels of incorporated ionizing radiation in adults, children and pregnant women in the surrounding area. Measured levels of Cesium-137 vary by region, and may be influenced by dietary and water sources as well as proximity to nuclear power plants. Since 2000, comprehensive, population-based birth defects monitoring has been performed in selected regions of Ukraine to evaluate trends and to generate hypotheses regarding potential causes of unexplained variations in defect rates. Significantly higher rates of microcephaly, neural tube defects, and microphthalmia have been identified in selected regions of Ukraine collectively known as Polissia compared to adjacent regions collectively termed non-Polissia, and these significantly higher rates were evident particularly in the years 2000-2009. The Polissia regions have also demonstrated higher mean whole body counts of Cesium-137 compared to values in individuals residing in other non-Polissia regions. The potential causal relationship between persistent ionizing radiation pollution and selected congenital anomaly rates supports the need for a more thorough, targeted investigation of the sources of persistent ionizing radiation and the biological plausibility of a potential teratogenic effect. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Why did the savant syndrome not spread in the population? A psychiatric example of a developmental constraint.

PubMed

Ploeger, Annemie; van der Maas, Han L J; Raijmakers, Maartje E J; Galis, Frietson

2009-03-31

A developmental constraint is a mechanism that limits the possibility of a phenotype to evolve. There is growing evidence for the existence of developmental constraints in the biological literature. We hypothesize that a developmental constraint prevents the savant syndrome, despite its positive aspects, from spreading in the population. Here, the developmental constraint is the result of the high interactivity among body parts in an early stage in embryological development, namely early organogenesis or the phylotypic stage. The interactivity during this stage involves all components of the embryo, and as a result mutations that affect one part of the embryo also affect other parts. We hypothesize that a mutation, which gives rise to the development of the positive aspects of the savant syndrome (e.g., an impressive memory capacity), will virtually always have a deleterious effect on the development of other phenotypic traits (e.g., resulting in autism and/or impaired motor coordination). Thus, our hypothesis states that the savant syndrome cannot spread in the population because of this developmental constraint. The finding that children with savant syndrome often have autism and physical anomalies, which are known to be established during early organogenesis, supports our hypothesis.

Geophysical Anomalies and Earthquake Prediction

NASA Astrophysics Data System (ADS)

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

Developmental origins of epigenetic transgenerational inheritance

PubMed Central

Hanson, Mark A.; Skinner, Michael K.

2016-01-01

Abstract Environmental factors can induce epigenetic alterations in the germ cells that can potentially be transmitted transgenerationally. This non-genetic form of inheritance is termed epigenetic transgenerational inheritance and has been shown in a variety of species including plants, flies, worms, fish, rodents, pigs, and humans. This phenomenon operates during specific critical windows of exposure, linked to the developmental biology of the germ cells (sperm and eggs). Therefore, concepts of the developmental origins of transgenerational inheritance of phenotypic variation and subsequent disease risk need to include epigenetic processes affecting the developmental biology of the germ cell. These developmental impacts on epigenetic transgenerational inheritance, in contrast to multigenerational exposures, are the focus of this Perspective. PMID:27390622

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

PubMed

Bižić, Marta R; Cvetinović, Nataša; Majstorović, Marko J; Radojčić, Zoran; Vukadinović, Vojkan; Krstić, Zoran; Djordjević, Miroslav L

2012-01-01

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. 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. 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 pre- and post-operative stay in the hospital. 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). 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.

FRaC: a feature-modeling approach for semi-supervised and unsupervised anomaly detection.

PubMed

Noto, Keith; Brodley, Carla; Slonim, Donna

2012-01-01

Anomaly detection involves identifying rare data instances (anomalies) that come from a different class or distribution than the majority (which are simply called "normal" instances). Given a training set of only normal data, the semi-supervised anomaly detection task is to identify anomalies in the future. Good solutions to this task have applications in fraud and intrusion detection. The unsupervised anomaly detection task is different: Given unlabeled, mostly-normal data, identify the anomalies among them. Many real-world machine learning tasks, including many fraud and intrusion detection tasks, are unsupervised because it is impractical (or impossible) to verify all of the training data. We recently presented FRaC, a new approach for semi-supervised anomaly detection. FRaC is based on using normal instances to build an ensemble of feature models, and then identifying instances that disagree with those models as anomalous. In this paper, we investigate the behavior of FRaC experimentally and explain why FRaC is so successful. We also show that FRaC is a superior approach for the unsupervised as well as the semi-supervised anomaly detection task, compared to well-known state-of-the-art anomaly detection methods, LOF and one-class support vector machines, and to an existing feature-modeling approach.

FRaC: a feature-modeling approach for semi-supervised and unsupervised anomaly detection

PubMed Central

Brodley, Carla; Slonim, Donna

2011-01-01

Anomaly detection involves identifying rare data instances (anomalies) that come from a different class or distribution than the majority (which are simply called “normal” instances). Given a training set of only normal data, the semi-supervised anomaly detection task is to identify anomalies in the future. Good solutions to this task have applications in fraud and intrusion detection. The unsupervised anomaly detection task is different: Given unlabeled, mostly-normal data, identify the anomalies among them. Many real-world machine learning tasks, including many fraud and intrusion detection tasks, are unsupervised because it is impractical (or impossible) to verify all of the training data. We recently presented FRaC, a new approach for semi-supervised anomaly detection. FRaC is based on using normal instances to build an ensemble of feature models, and then identifying instances that disagree with those models as anomalous. In this paper, we investigate the behavior of FRaC experimentally and explain why FRaC is so successful. We also show that FRaC is a superior approach for the unsupervised as well as the semi-supervised anomaly detection task, compared to well-known state-of-the-art anomaly detection methods, LOF and one-class support vector machines, and to an existing feature-modeling approach. PMID:22639542

Distribution of branchial anomalies in a paediatric Asian population.

PubMed

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.

Distribution of branchial anomalies in a paediatric Asian population

PubMed Central

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

2015-01-01

INTRODUCTION 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. METHODS 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. RESULTS 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. CONCLUSION 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. PMID:25917471

[Autopsies for fetal anomalies].

PubMed

Kidron, Debora; Eidel, Jouly; Aviram, Rami

2013-06-01

Fetal autopsies are effective in identifying the cause and/or mechanisms leading to death in cases of intrauterine fetal death. Autopsies for fetal anomalies are different. To summarize our experience with 569 autopsies of fetal anomalies which were performed during an 18-year period. A retrospective analysis of 569 autopsies of fetal anomalies was conducted, out of a total of 1067 fetal autopsies. The pregnancy weeks were 14 - 41. Among 569 cases, 88% were termination of pregnancies, 10% intrauterine death and 2% perinatal deaths. The diagnosis of a syndrome or disease process was made when a constellation of gross and/or histologic findings was met. Specific diagnoses were offered in cases of cystic diseases of kidneys, types of dwarfism, tumors and fetal hydrops. Teratogenic (acquired) processes, such as congenital infections, thrombosis and cerebral hemorrhages, were differentiated from malformations. In cases of multiple congenital anomalies, documentation of the entire spectrum of malformations facilitated the genetic counseling. First and foremost, the autopsy is performed in the interest of the parents, with their written consent and in accordance with limitations and requests which they pose. Autopsy results provide feedback to the prenatal imaging. They assist in focusing the genetic counseling. Autopsy reports provide tools of control for the health authorities. Autopsies for fetal anomalies are time consuming. They require skill and experience. They are helpfuL when the prenatal diagnosis raises differential diagnosis. They are Less helpful when the diagnosis is clear, i.e. chromosomal trisomy.

Relationship of ocular accommodation and motor skills performance in developmental coordination disorder.

PubMed

Rafique, Sara A; Northway, Nadia

2015-08-01

Ocular accommodation provides a well-focussed image, feedback for accurate eye movement control, and cues for depth perception. To accurately perform visually guided motor tasks, integration of ocular motor systems is essential. Children with motor coordination impairment are established to be at higher risk of accommodation anomalies. The aim of the present study was to examine the relationship between ocular accommodation and motor tasks, which are often overlooked, in order to better understand the problems experienced by children with motor coordination impairment. Visual function, gross and fine motor skills were assessed in children with developmental coordination disorder (DCD) and typically developing control children. Children with DCD had significantly poorer accommodation facility and amplitude dynamics compared to controls. Results indicate a relationship between impaired accommodation and motor skills. Specifically, accommodation anomalies correlated with visual motor, upper limb and fine dexterity task performance. Consequently, we argue accommodation anomalies influence the ineffective coordination of action and perception in DCD. Furthermore, reading disabilities were related to poorer motor performance. We postulate the role of the fastigial nucleus as a common pathway for accommodation and motor deficits. Implications of the findings and recommended visual screening protocols are discussed. Copyright © 2015 Elsevier B.V. All rights reserved.

Clinical Study of Second Branchial Cleft Anomalies.

PubMed

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.

Gravity Anomaly Intersects Moon Basin

NASA Image and Video Library

2012-12-05

A linear gravity anomaly intersecting the Crisium basin on the nearside of the moon has been revealed by NASA GRAIL mission. The GRAIL gravity gradient data are shown at left, with the location of the anomaly indicated.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

PubMed

Tessadori, Federico; Giltay, Jacques C; Hurst, Jane A; Massink, Maarten P; Duran, Karen; Vos, Harmjan R; van Es, Robert M; Scott, Richard H; van Gassen, Koen L I; Bakkers, Jeroen; van Haaften, Gijs

2017-11-01

Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis. Here we report monoallelic missense mutations affecting lysine 91 in the histone H4 core (H4K91) in three individuals with a syndrome of growth delay, microcephaly and intellectual disability. Expression of the histone H4 mutants in zebrafish embryos recapitulates the developmental anomalies seen in the patients. We show that the histone H4 alterations cause genomic instability, resulting in increased apoptosis and cell cycle progression anomalies during early development. Mechanistically, our findings indicate an important role for the ubiquitination of H4K91 in genomic stability during embryonic development.

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

PubMed

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

Assessment of in-flight anomalies of long life outer plant mission

NASA Technical Reports Server (NTRS)

Hoffman, Alan R.; Green, Nelson W.; Garrett, Henry B.

2004-01-01

Thee unmanned planetary spacecraft to the outer planets have been controlled and operated successfully in space for an accumulated total of 66 years. The Voyager 1 and 2 spacecraft each have been in space for more than 26 years. The Galileo spacecraft was in space for 14 years, including eight years in orbit about Jupiter. During the flight operations for these missions, anomalies for the ground data system and the flight systems have been tracked using the anomaly reporting tool at the Jet Propulsion Laboratory. A total of 3300 incidents, surprises, and anomaly reports have been recorded in the database. This paper describes methods and results for classifying and identifying trends relative to ground system vs. flight system, software vs. hardware, and corrective actions. There are several lessons learned from these assessments that significantly benefit the design and planning for long life missions of the future. These include the necessity for having redundancy for successful operation of the spacecraft, awareness that anomaly reporting is dependent on mission activity not the age of the spacecraft, and the need for having a program to maintain and transfer operation knowledge and tools to replacement flight team members.

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

PubMed

D'Arrigo, Stefano; Gavazzi, Francesco; Alfei, Enrico; Zuffardi, Orsetta; Montomoli, Cristina; Corso, Barbara; Buzzi, Erika; Sciacca, Francesca L; Bulgheroni, Sara; Riva, Daria; Pantaleoni, Chiara

2016-05-01

Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization. © The Author(s) 2015.

Flux-fusion anomaly test and bosonic topological crystalline insulators

DOE PAGES

Hermele, Michael; Chen, Xie

2016-10-13

Here, we introduce a method, dubbed the flux-fusion anomaly test, to detect certain anomalous symmetry fractionalization patterns in two-dimensional symmetry-enriched topological (SET) phases. We focus on bosonic systems with Z2 topological order and a symmetry group of the form G=U(1)xG', where G' is an arbitrary group that may include spatial symmetries and/or time reversal. The anomalous fractionalization patterns we identify cannot occur in strictly d=2 systems but can occur at surfaces of d=3 symmetry-protected topological (SPT) phases. This observation leads to examples of d=3 bosonic topological crystalline insulators (TCIs) that, to our knowledge, have not previously been identified. In somemore » cases, these d=3 bosonic TCIs can have an anomalous superfluid at the surface, which is characterized by nontrivial projective transformations of the superfluid vortices under symmetry. The basic idea of our anomaly test is to introduce fluxes of the U(1) symmetry and to show that some fractionalization patterns cannot be extended to a consistent action of G' symmetry on the fluxes. For some anomalies, this can be described in terms of dimensional reduction to d=1 SPT phases. We apply our method to several different symmetry groups with nontrivial anomalies, including G=U(1)×Z T 2 and G=U(1)×Z P 2, where Z T 2 and Z P 2 are time-reversal and d=2 reflection symmetry, respectively.« less

Prevalence of dental anomalies among 7- to 35-year-old people in Hamadan, Iran in 2012-2013 as observed using panoramic radiographs.

PubMed

Shokri, Abbas; Poorolajal, Jalal; Khajeh, Samira; Faramarzi, Farhad; Kahnamoui, Hanieh Mogaver

2014-03-01

This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 7- to 35-year-old patients by using panoramic radiographs. This cross-sectional study was conducted on 1649 people in Hamadan City, in 2012-2013. The prevalence of four types and 12 subtypes of dental anomalies was evaluated by two observers separately by using panoramic radiography. Dental anomalies were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia); and (d) position (including displacement, impaction, and dilacerations). The reliability between the two observers was 79.56% according to the Kappa statistics. The prevalence of dental anomalies diagnosed by panoramic radiographs was 29%. Anomalies of position and number were the most common types of abnormalities, and anomalies of shape and structure were the least in both genders. Anomalies of impaction (44.76%), dilacerations (21.11%), hypodontia (15.88%), taurodontism (9.29%), and hyperdontia (6.76%) were the most common subtypes of dental anomalies. The anomalies of shape and number were more common in the age groups of 7-12 years and 13-15 years, respectively, while the anomalies of structure and position were more common among the other age groups. Anomalies of tooth position were the most common type of dental anomalies, and structure anomalies were the least in this Iranian 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.

Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies

PubMed Central

Armfield, Brooke A.; Cohn, Martin J.

2015-01-01

Congenital penile anomalies (CPAs) are among the most common human birth defects. Reports of CPAs, which include hypospadias, chordee, micropenis, and ambiguous genitalia, have risen sharply in recent decades, but the causes of these malformations are rarely identified. Both genetic anomalies and environmental factors, such as antiandrogenic and estrogenic endocrine disrupting chemicals (EDCs), are suspected to cause CPAs; however, little is known about the temporal window(s) of sensitivity to EDCs, or the tissue-specific roles and downstream targets of the androgen receptor (AR) in external genitalia. Here, we show that the full spectrum of CPAs can be produced by disrupting AR at different developmental stages and in specific cell types in the mouse genital tubercle. Inactivation of AR during a narrow window of prenatal development results in hypospadias and chordee, whereas earlier disruptions cause ambiguous genitalia and later disruptions cause micropenis. The neonatal phase of penile development is controlled by the balance of AR to estrogen receptor α (ERα) activity; either inhibition of androgen or augmentation of estrogen signaling can induce micropenis. AR and ERα have opposite effects on cell division, apoptosis, and regulation of Hedgehog, fibroblast growth factor, bone morphogenetic protein, and Wnt signaling in the genital tubercle. We identify Indian hedgehog (Ihh) as a novel downstream target of AR in external genitalia and show that conditional deletion of Ihh inhibits penile masculinization. These studies reveal previously unidentified cellular and molecular mechanisms by which antiandrogenic and estrogenic signals induce penile malformations and demonstrate that the timing of endocrine disruption can determine the type of CPA. PMID:26598695

Hawking radiation and covariant anomalies

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

Banerjee, Rabin; Kulkarni, Shailesh

2008-01-15

Generalizing the method of Wilczek and collaborators we provide a derivation of Hawking radiation from charged black holes using only covariant gauge and gravitational anomalies. The reliability and universality of the anomaly cancellation approach to Hawking radiation is also discussed.

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

PubMed

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 <.05) were only found in the prevalence of anodontia of a single tooth (UCLP=39%, BCLP=14%), multiple anodontia (UCLP=22%, BCLP=54%), and anterior malocclusion (UCLP=15%, BCLP=41%). There is a high prevalence of dental anomalies associated with orofacial clefts regardless of whether they are unilateral or bilateral cleft lip with or without palate.

Analysis of GEO spacecraft anomalies: Space weather relationships

NASA Astrophysics Data System (ADS)

Choi, Ho-Sung; Lee, Jaejin; Cho, Kyung-Suk; Kwak, Young-Sil; Cho, Il-Hyun; Park, Young-Deuk; Kim, Yeon-Han; Baker, Daniel N.; Reeves, Geoffrey D.; Lee, Dong-Kyu

2011-06-01

While numerous anomalies and failures of spacecraft have been reported since the beginning of the space age, space weather effects on modern spacecraft systems have been emphasized more and more with the increase of their complexity and capability. However, the relationship between space weather and commercial satellite anomalies has not been studied extensively. In this paper, we investigate the geostationary Earth orbit (GEO) satellite anomalies archived by Satellite News Digest during 1997-2009 in order to search for possible influences of space weather on the anomaly occurrences. We analyze spacecraft anomalies for the Kp index, local time, and season and then compare them with the tendencies of charged particles observed by Los Alamos National Laboratory (LANL) satellites. We obtain the following results: (1) there are good relationships between geomagnetic activity (as measured by the Kp index) and anomaly occurrences of the GEO satellites; (2) the satellite anomalies occurred mainly in the midnight to morning sector; and (3) the anomalies are found more frequently in spring and fall than summer and winter. While we cannot fully explain how space weather is involved in producing such anomalies, our analysis of LANL data shows that low-energy (<100 keV) electrons have similar behaviors with spacecraft anomalies and implies the spacecraft charging might dominantly contribute to the GEO spacecraft anomalies reported in Satellite News Digest.

Enabling NLDAS-2 Anomaly Analysis Using Giovanni

NASA Astrophysics Data System (ADS)

Loeser, C.; Rui, H.; Teng, W. L.; Vollmer, B.; Mocko, D. M.

2017-12-01

A newly implemented feature in Giovanni (GES DISC Interactive Online Visualization and Analysis Interface) allows users to explore and visualize anomaly data from the NLDAS-2 Primary Forcing and Noah model data sets. For a given measurement and location, an anomaly describes how conditions for a particular time period compare to normal conditions, based on long-term averages. Analyzing anomalies is important for monitoring droughts, determining weather trends, and studying land surface processes relevant for meteorology, hydrology, and climate. Using Giovanni to analyze anomalies for NLDAS-2 data allows for these studies to be efficiently conducted for the central North American region. Phase 2 of NLDAS (NLDAS-2) currently runs at an 1/8th degree resolution, in near-real time, with data sets extending back to January 1979. NLDAS-2 provides data for soil moisture, precipitation, temperature, and other hydrology measurements. Hourly, monthly, and 30-year (1980-2009) monthly climatology data are available for several land surface models and forcing data sets. The Giovanni anomaly tool calculates monthly anomalies, for a given user-defined variable, as the difference between the NLDAS-2 monthly climatology data and the monthly data. The resulting anomaly describes how a chosen month compares to the 30-year monthly average. The presentation will demonstrate the capabilities and usefulness of Giovanni's anomaly tool, detail the recently added NLDAS-2 variables for which anomalies are available, and show how users can access the data.

Enabling NLDAS-2 Anomaly Analysis Using Giovanni

NASA Technical Reports Server (NTRS)

Loeser, Carlee; Rui, Hualan; Teng, William; Vollmer, Bruce; Mocko, David

2017-01-01

A newly implemented feature in Giovanni (GES DISC Interactive Online Visualization and Analysis Interface) allows users to explore and visualize anomaly data from the NLDAS-2 Primary Forcing and Noah model data sets. For a given measurement and location, an anomaly describes how conditions for a particular time period compare to normal conditions, based on long-term averages. Analyzing anomalies is important for monitoring droughts, determining weather trends, and studying land surface processes relevant for meteorology, hydrology, and climate. Using Giovanni to analyze anomalies for NLDAS-2 data allows for these studies to be efficiently conducted for the central North American region. Phase 2 of NLDAS (NLDAS-2) currently runs at an 1/8th degree resolution, in near-real time, with data sets extending back to January 1979. NLDAS-2 provides data for soil moisture, precipitation, temperature, and other hydrology measurements. Hourly, monthly, and 30-year (1980-2009) monthly climatology data are available for several land surface models and forcing data sets. The Giovanni anomaly tool calculates monthly anomalies, for a given user-defined variable, as the difference between the NLDAS-2 monthly climatology data and the monthly data. The resulting anomaly describes how a chosen month compares to the 30-year monthly average. The presentation will demonstrate the capabilities and usefulness of Giovanni's anomaly tool, detail the recently added NLDAS-2 variables for which anomalies are available, and show how users can access the data.

The magnetic anomaly of the Ivreazone

NASA Technical Reports Server (NTRS)

Albert, G.

1979-01-01

A magnetic field survey was made in the Ivreazone in 1969/70. The results were: significant anomaly of the vertical intensity is found. It follows the basic main part of the Ivrea-Verbano zone and continues to the south. The width of the anomaly is about 10 km, the maximum measures about +800 gamma. The model interpretation shows that possibly the anomaly belongs to an amphibolitic body, which in connection with the Ivrea-body was found by deep seismic sounding. Therefore, the magnetic anomaly provides further evidence for the conception that the Ivrea-body has to be regarded as a chip of earthmantle material pushed upward by tectonic processes.

Developmental plasticity: Friend or foe?

PubMed

Michels, Karin B

2017-01-01

Developmental plasticity - the concept that adaptation to changing and unfavorable environmental conditions are possible but may come at the price of compromised health potentials - has evolutionary grounding as it facilitates survival but dissents with fundamental evolutionary principles in that it may advance the lesser fit. It is an important cornerstone of the Developmental Origins of Health and Disease (DOHaD). Unlike evolutionary adaptation developmental plasticity may be short-lived and restricted to one or few generations and inheritance is uncertain. Potential mechanisms include epigenetic modifications adopted in utero which may not transmit to the next generation; future insights may allow adjustments of the outcomes of developmental plasticity.

Anatomical variations of the facial nerve in first branchial cleft anomalies.

PubMed

Solares, C Arturo; Chan, James; Koltai, Peter J

2003-03-01

To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. Case series. Tertiary care center. Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.

A comparative review of developmental screening tests.

PubMed

Glascoe, F P; Martin, E D; Humphrey, S

1990-10-01

Public Law 99-457 amends the Education of the Handicapped Act to include services for children from birth through 3 years. Inasmuch as detection and referral of children with developmental delays continues to reside largely with pediatricians and other health care professionals, developmental screening, using standardized tests, is increasingly important. To help physicians select from the array of instruments, 19 different screening tests were administered by a pediatrician and rated by a panel of pediatricians and a special educator. While the panel found few tests that fit within the time constraints of pediatric practice, several tests approached standards for educational and psychologic tests. These included the Battelle Developmental Inventory Screening Test, Infant Monitoring System, Developmental Indicators for Assessment of Learning-Revised, Screening Children for Related Early Educational Needs, and the Developmental Profile II.

The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry.

PubMed

Goldfarb, Charles A; Shaw, Neil; Steffen, Jennifer A; Wall, Lindley B

2017-03-01

There have been few publications regarding the prevalence of congenital upper extremity anomalies and no recent reports from the United States. The purpose of this investigation was to examine the prevalence of congenital upper extremity anomalies in the total birth population of New York State over a 19-year period utilizing the New York Congenital Malformations Registry (NYCMR) database. The NYCMR includes children with at least 1 birth anomaly diagnosed by 2 years of age and listed by diagnosis code. We scrutinized these codes for specific upper extremity anomalies, including polydactyly, syndactyly, reduction defects, clubhand malformations, and syndromes with upper limb anomalies. We included children born between 1992 and 2010. There were a total of 4,883,072 live births in New York State during the study period. The overall prevalence of congenital upper extremity anomalies was 27.2 cases per 10,000 live births. Polydactyly was most common with 12,418 cases and a prevalence rate of 23.4 per 10,000 live births. The next most common anomalies included syndactyly with 627 cases affecting the hands (1498 total) and reduction defects (1111 cases). Specific syndromes were quite rare and were noted in a total of 215 live births. The prevalence of anomalies was higher in New York City compared with New York State populations at 33.0 and 21.9 per 10,000 live births, respectively. The NYCMR data demonstrate that congenital upper extremity anomalies are more common than previously reported. This is in large part due to the high prevalence of polydactyly. Although registries are imperfect, such data are helpful in monitoring prevalence rates over time, identifying potential causes or associations, and guiding health care planning and future research. Level I-diagnostic.

The effect of scale on the interpretation of geochemical anomalies

USGS Publications Warehouse

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

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

PubMed

Hemmat, Morteza; Yang, Xiaojing; Chan, Patricia; McGough, Robert A; Ross, Leslie; Mahon, Loretta W; Anguiano, Arturo L; Boris, Wang T; Elnaggar, Mohamed M; Wang, Jia-Chi J; Strom, Charles M; Boyar, Fatih Z

2014-01-01

Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

PubMed Central

2014-01-01

Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient’s developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient. PMID:25478007

Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors

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

Seaver, L.H.; Grimes, J.; Erickson, R.P.

1994-05-15

46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosome (46,XX); one had a 46,XX,del(10)(q25.3{yields}qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Ymore » chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone. 32 refs., 1 fig., 2 tabs.« less

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America.

PubMed

Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

2016-01-01

Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. Copyright© by the International Brazilian Journal of Urology.

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

PubMed Central

Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

2016-01-01

ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. PMID:27564292

Maternal and developmental toxicity of the hallucinogenic plant-based beverage ayahuasca in rats.

PubMed

da Motta, Luciana Gueiros; de Morais, Juliana Alves; Tavares, Ana Carolina A M; Vianna, Leonora Maciel Sousa; Mortari, Marcia Renata; Amorim, Rivadávio Fernandes Batista; Carvalho, Rosângela R; Paumgartten, Francisco José R; Pic-Taylor, Aline; Caldas, Eloisa Dutra

2018-04-01

Rats were treated orally with ayahuasca (AYA) on gestation days (GD) 6-20 at doses corresponding to one-(1X) to eight-fold (8X) the average dose taken by a human adult in a religious ritual, and the pregnancy outcome evaluated on GD21. Rats treated with 4X and 8X doses died during the treatment period (44 and 52%), and those that survived showed kidney injury. Rats surviving the 8X dose showed neuronal loss in hippocampal regions and in the raphe nuclei, and those from the 2X dose neuronal loss in CA1. Delayed intrauterine growth, induced embryo deaths and increased occurrence of foetal anomalies were observed at the 8X dose. At non-lethal doses, AYA enhanced embryolethality and the incidence of foetal soft-tissue and skeleton anomalies. This study suggested that AYA is developmentally toxic and that its daily use by pregnant women may pose risks for the conceptus. Copyright © 2018 Elsevier Inc. All rights reserved.

Gravity anomaly detection: Apollo/Soyuz

NASA Technical Reports Server (NTRS)

Vonbun, F. O.; Kahn, W. D.; Bryan, J. W.; Schmid, P. E.; Wells, W. T.; Conrad, D. T.

1976-01-01

The Goddard Apollo-Soyuz Geodynamics Experiment is described. It was performed to demonstrate the feasibility of tracking and recovering high frequency components of the earth's gravity field by utilizing a synchronous orbiting tracking station such as ATS-6. Gravity anomalies of 5 MGLS or larger having wavelengths of 300 to 1000 kilometers on the earth's surface are important for geologic studies of the upper layers of the earth's crust. Short wavelength Earth's gravity anomalies were detected from space. Two prime areas of data collection were selected for the experiment: (1) the center of the African continent and (2) the Indian Ocean Depression centered at 5% north latitude and 75% east longitude. Preliminary results show that the detectability objective of the experiment was met in both areas as well as at several additional anomalous areas around the globe. Gravity anomalies of the Karakoram and Himalayan mountain ranges, ocean trenches, as well as the Diamantina Depth, can be seen. Maps outlining the anomalies discovered are shown.

Developmental Milestones in Toddlers with Atypical Development

ERIC Educational Resources Information Center

Horovitz, Max; Matson, Johnny L.

2011-01-01

The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…

Application of the IFSSH(3)-classification for congenital anomalies of the hand; results and problems.

PubMed

De Smet, L; Matton, G; Monstrey, S; Cambier, E; Fabry, G

1997-09-01

The extended classification proposed by the IFSSH was used to classify 1013 hand anomalies in 925 hands of 650 patients. We found associated anomalies in 26.7%. The classification was straightforward in 86%, difficult in 6.6% and not possible in 7.8%. In group I the radial and ulnar deficiencies, limited to the hand and without forearm deficiencies should be included. Group II was the most important group including 513 anomalies. We propose to include in this group the Madelung deformity, the Kirner deformity and congenital trigger fingers and trigger thumbs. Triphalangeal thumbs are a problem, we suggest to list this anomaly in group III and to consider it as a duplication in length. It is not always possible to evaluate the (transverse) absence of the fingers or hand. Longitudinal deficiencies (group IIB), symbrachydactyly group (V) and amniotic bands (group VI) occasionally develop a phenotype similar to the genuine transverse deficiency (group IA).

Geological reasons for change in intensity of linear magnetic anomalies of the Kursk magnetic anomaly

NASA Technical Reports Server (NTRS)

Zhavoronkin, I. A.; Kopayev, V. V.

1985-01-01

The geological reasons for fluctuations in the anomalous field intensity along the polar axes were examined. The Kursk magnetic anomaly is used as the basis for the study. A geological-geophysical section was constructed which used the results of the interpretation of gravimagnetic anomalies.

Character: A Multifaceted Developmental System

ERIC Educational Resources Information Center

Nucci, Larry

2017-01-01

Character is a developmental system embedded within the self-system. This Relational Developmental Systems (RDS) view is in juxtaposition with virtue theory and accounts of character in terms of moral identity. The character system includes 4 components 3 of which: basic moral cognition (as described within domain theory); other regarding; and…

Relationships between Rwandan seasonal rainfall anomalies and ENSO events

NASA Astrophysics Data System (ADS)

Muhire, I.; Ahmed, F.; Abutaleb, K.

2015-10-01

This study aims primarily at investigating the relationships between Rwandan seasonal rainfall anomalies and El Niño-South Oscillation phenomenon (ENSO) events. The study is useful for early warning of negative effects associated with extreme rainfall anomalies across the country. It covers the period 1935-1992, using long and short rains data from 28 weather stations in Rwanda and ENSO events resourced from Glantz (2001). The mean standardized anomaly indices were calculated to investigate their associations with ENSO events. One-way analysis of variance was applied on the mean standardized anomaly index values per ENSO event to explore the spatial correlation of rainfall anomalies per ENSO event. A geographical information system was used to present spatially the variations in mean standardized anomaly indices per ENSO event. The results showed approximately three climatic periods, namely, dry period (1935-1960), semi-humid period (1961-1976) and wet period (1977-1992). Though positive and negative correlations were detected between extreme short rains anomalies and El Niño events, La Niña events were mostly linked to negative rainfall anomalies while El Niño events were associated with positive rainfall anomalies. The occurrence of El Niño and La Niña in the same year does not show any clear association with rainfall anomalies. However, the phenomenon was more linked with positive long rains anomalies and negative short rains anomalies. The normal years were largely linked with negative long rains anomalies and positive short rains anomalies, which is a pointer to the influence of other factors other than ENSO events. This makes projection of seasonal rainfall anomalies in the country by merely predicting ENSO events difficult.

Hypospadias: Prevalence, birthweight and associated major congenital anomalies.

PubMed

Nissen, Karin Baekgaard; Udesen, Ann; Garne, Ester

2015-02-01

The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birthweight and associated major congenital anomalies. It is a population-based study of all cases (live births, fetal deaths and elective terminations of pregnancy) with hypospadias born in the period 1986-2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. 223 cases of hypospadias were registered during the period 1986-2009 with an overall prevalence of 16.9 per 10 000 births. The prevalence was significantly higher in 2000-2009 compared to 1986-1999 (P < 0.001). We found a three times higher occurrence of VLBW (very low birthweight) infants among cases with hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68%) while cases with associated major congenital anomalies were less likely to have mild hypospadias (42%) (P < 0.05). Hypospadias was associated with VLBW and the severity of the defect was related to the presence of major congenital anomalies. The prevalence of hypospadias has increased during the study period. The relation to VLBW could indicate a causal relationship for hypospadias or a shared pathogenic factor. © 2014 Japanese Teratology Society.

[Congenital anomalies of poor prognosis. Genetics Consensus Committee].

PubMed

Pardo Vargas, Rosa A; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia

The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

The 2014-2015 warming anomaly in the Southern California Current System observed by underwater gliders

NASA Astrophysics Data System (ADS)

Zaba, Katherine D.; Rudnick, Daniel L.

2016-02-01

Large-scale patterns of positive temperature anomalies persisted throughout the surface waters of the North Pacific Ocean during 2014-2015. In the Southern California Current System, measurements by our sustained network of underwater gliders reveal the coastal effects of the recent warming. Regional upper ocean temperature anomalies were greatest since the initiation of the glider network in 2006. Additional observed physical anomalies included a depressed thermocline, high stratification, and freshening; induced biological consequences included changes in the vertical distribution of chlorophyll fluorescence. Contemporaneous surface heat flux and wind strength perturbations suggest that local anomalous atmospheric forcing caused the unusual oceanic conditions.

Dental anomalies in an orthodontic patient population with maxillary lateral incisor agenesis.

PubMed

Citak, Mehmet; Cakici, Elif Bahar; Benkli, Yasin Atakan; Cakici, Fatih; Bektas, Bircan; Buyuk, Suleyman Kutalmış

2016-01-01

The purpose of this study was to evaluate the prevalence of dental anomalies in a subpopulation of orthodontic patients with agenesis of maxillary lateral incisors (MLI). The material of the present study included the records of the 1964 orthodontic patients. Panoramic radiographs and dental casts were used to analyze other associated eight dental anomalies, including agenesis of other teeth, dens invaginatus, dens evaginatus, peg shaped MLI, taurodontism, pulp stone, root dilaceration and maxillary canine impaction. Out of the 1964 patients examined, 90 were found to have agenesis of MLI, representing a prevalence of 4.6%. The most commonly found associated-anomalies were agenesis of other teeth (23.3%), peg-shaped MLIs (15.6%), taurodontism (42.2%), and dilacerated teeth (18.9%). Permanent tooth agenesis, taurodontism, peg-shaped maxillary lateral incisor, and root dilacerations are frequently associated with maxillary lateral incisor agenesis.

48 CFR 819.7110 - Developmental assistance.

Code of Federal Regulations, 2010 CFR

2010-10-01

... SOCIOECONOMIC PROGRAMS SMALL BUSINESS PROGRAMS VA Mentor-Protégé Program 819.7110 Developmental assistance. The forms of developmental assistance a mentor can provide to a protégé include, but are not limited...

Adiabatic Quantum Anomaly Detection and Machine Learning

NASA Astrophysics Data System (ADS)

Pudenz, Kristen; Lidar, Daniel

2012-02-01

We present methods of anomaly detection and machine learning using adiabatic quantum computing. The machine learning algorithm is a boosting approach which seeks to optimally combine somewhat accurate classification functions to create a unified classifier which is much more accurate than its components. This algorithm then becomes the first part of the larger anomaly detection algorithm. In the anomaly detection routine, we first use adiabatic quantum computing to train two classifiers which detect two sets, the overlap of which forms the anomaly class. We call this the learning phase. Then, in the testing phase, the two learned classification functions are combined to form the final Hamiltonian for an adiabatic quantum computation, the low energy states of which represent the anomalies in a binary vector space.

Lunar Bouguer gravity anomalies - Imbrian age craters

NASA Technical Reports Server (NTRS)

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.

Congenital anomalies of the left brachiocephalic vein detected in adults on computed tomography.

PubMed

Yamamuro, Hiroshi; Ichikawa, Tamaki; Hashimoto, Jun; Ono, Shun; Nagata, Yoshimi; Kawada, Shuichi; Kobayashi, Makiko; Koizumi, Jun; Shibata, Takeo; Imai, Yutaka

2017-10-01

Anomalous left brachiocephalic vein (BCV) is a rare and less known systemic venous anomaly. We evaluated congenital anomalies of the left BCV in adults detected during computed tomography (CT) examinations. This retrospective study included 81,425 patients without congenital heart disease who underwent chest CT. We reviewed the recorded reports and CT images for congenital anomalies of the left BCV including aberrant and supernumerary BCVs. The associated congenital aortic anomalies were assessed. Among 73,407 cases at a university hospital, 22 (16 males, 6 females; mean age, 59 years) with aberrant left BCVs were found using keyword research on recorded reports (0.03%). Among 8018 cases at the branch hospital, 5 (4 males, 1 female; mean age, 67 years) with aberrant left BCVs were found using CT image review (0.062%). There were no significant differences in incidences of aberrant left BCV between the two groups. Two cases had double left BCVs. Eleven cases showed high aortic arches. Two cases had the right aortic arch, one case had an incomplete double aortic arch, and one case was associated with coarctation. Aberrant left BCV on CT examination in adults was extremely rare. Some cases were associated with aortic arch anomalies.

Amyloid Precursor Protein 96–110 and β-Amyloid 1–42 Elicit Developmental Anomalies in Sea Urchin Embryos and Larvae that are Alleviated by Neurotransmitter Analogs for Acetylcholine, Serotonin and Cannabinoids

PubMed Central

Buznikov, Gennady A.; Nikitina, Lyudmila A.; Seidler, Frederic J.; Slotkin, Theodore A.; Bezuglov, Vladimir V.; Milošević, Ivan; Lazarević, Lidija; Rogač, Ljubica; Ruzdijić, Sabera; Rakić, Ljubiša M.

2008-01-01

Amyloid precursor protein (APP) is overexpressed in the developing brain and portions of its extracellular domain, especially amino acid residues 96–110, play an important role in neurite outgrowth and neural cell differentiation. In the current study, we evaluated the developmental abnormalities caused by administration of exogenous APP96–110 in sea urchin embryos and larvae, which, like the developing mammalian brain, utilize acetylcholine and other neurotransmitters as morphogens; effects were compared to those of β-amyloid 1–42 (Aβ42), the neurotoxic APP fragment contained within neurodegenerative plaques in Alzheimer’s Disease. Although both peptides elicited dysmorphogenesis, Aβ42 was far more potent; in addition, whereas Aβ42 produced abnormalities at developmental stages ranging from early cleavage divisions to the late pluteus, APP96–110 effects were restricted to the intermediate, mid-blastula stage. For both agents, anomalies were prevented or reduced by addition of lipid-permeable analogs of acetylcholine, serotonin or cannabinoids; physostigmine, a carbamate-derived cholinesterase inhibitor, was also effective. In contrast, agents that act on NMDA receptors (memantine) or α-adrenergic receptors (nicergoline), and that are therapeutic in Alzheimer’s Disease, were themselves embryotoxic, as was tacrine, a cholinesterase inhibitor from a different chemical class than physostigmine. Protection was also provided by agents acting downstream from receptor-mediated events: increasing cyclic AMP with caffeine or isobutylmethylxanthine, or administering the antioxidant, α-tocopherol, were all partially effective. Our findings reinforce a role for APP in development and point to specific interactions with neurotransmitter systems that act as morphogens in developing sea urchins as well as in the mammalian brain. PMID:18565728

Magnetosheath Flow Anomalies in 3-D

NASA Technical Reports Server (NTRS)

Vaisberg, O. L.; Burch, J. L.; Smirnov, V. N.; Avanov, L. A.; Moore, T. E.; Waite, J. H., Jr.; Skalsky, A. A.; Borodkova, N. L.; Coffey, V. N.; Gallagher, D. L.;

Chlorination Disinfection By-Products and Risk of Congenital Anomalies in England and Wales

PubMed Central

Nieuwenhuijsen, Mark J.; Toledano, Mireille B.; Bennett, James; Best, Nicky; Hambly, Peter; de Hoogh, Cornelis; Wellesley, Diana; Boyd, Patricia A.; Abramsky, Lenore; Dattani, Nirupa; Fawell, John; Briggs, David; Jarup, Lars; Elliott, Paul

2008-01-01

Background Increased risk of various congenital anomalies has been reported to be associated with trihalomethane (THM) exposure in the water supply. Objectives We conducted a registry-based study to determine the relationship between THM concentrations and the risk of congenital anomalies in England and Wales. Methods We obtained congenital anomaly data from the National Congenital Anomalies System, regional registries, and the national terminations registry; THM data were obtained from water companies. Total THM (< 30, 30 to < 60, ≥60 μg/L), total brominated exposure (< 10, 10 to < 20, ≥20 μg/L), and bromoform exposure (< 2, 2 to < 4, ≥4 μg/L) were modeled at the place of residence for the first trimester of pregnancy. We included 2,605,226 live births, stillbirths, and terminations with 22,828 cases of congenital anomalies. Analyses using fixed- and random-effects models were performed for broadly defined groups of anomalies (cleft palate/lip, abdominal wall, major cardiac, neural tube, urinary and respiratory defects), a more restricted set of anomalies with better ascertainment, and for isolated and multiple anomalies. Data were adjusted for sex, maternal age, and socioeconomic status. Results We found no statistically significant trends across exposure categories for either the broadly defined or more restricted sets of anomalies. For the restricted set of anomalies with isolated defects, there were significant (p < 0.05) excess risks in the high-exposure categories of total THMs for ventricular septal defects [odds ratio (OR) = 1.43; 95% confidence interval (CI), 1.00–2.04] and of bromoform for major cardiovascular defects and gastroschisis (OR = 1.18; 95% CI, 1.00–1.39; and OR = 1.38; 95% CI, 1.00–1.92, respectively). Conclusion In this large national study we found little evidence for a relationship between THM concentrations in drinking water and risk of congenital anomalies. PMID:18288321

SEISMIC DISCRIMINATION OF THERMAL AND MAGNETIC ANOMALIES IN SUNSPOT UMBRAE

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

Lindsey, C.; Cally, P. S.; Rempel, M.

2010-08-20

Efforts to model sunspots based on helioseismic signatures need to discriminate between the effects of (1) a strong magnetic field that introduces time-irreversible, vantage-dependent phase shifts, apparently connected to fast- and slow-mode coupling and wave absorption and (2) a thermal anomaly that includes cool gas extending an indefinite depth beneath the photosphere. Helioseismic observations of sunspots show travel times considerably reduced with respect to equivalent quiet-Sun signatures. Simulations by Moradi and Cally of waves skipping across sunspots with photospheric magnetic fields of order 3 kG show travel times that respond strongly to the magnetic field and relatively weakly to themore » thermal anomaly by itself. We note that waves propagating vertically in a vertical magnetic field are relatively insensitive to the magnetic field, while remaining highly responsive to the attendant thermal anomaly. Travel-time measurements for waves with large skip distances into the centers of axially symmetric sunspots are therefore a crucial resource for discrimination of the thermal anomaly beneath sunspot umbrae from the magnetic anomaly. One-dimensional models of sunspot umbrae based on compressible-radiative-magnetic-convective simulations such as by Rempel et al. can be fashioned to fit observed helioseismic travel-time spectra in the centers of sunspot umbrae. These models are based on cooling of the upper 2-4 Mm of the umbral subphotosphere with no significant anomaly beneath 4.5 Mm. The travel-time reductions characteristic of these models are primarily a consequence of a Wilson depression resulting from a strong downward buoyancy of the cooled umbral medium.« less

Euro-African MAGSAT anomaly-tectonic observations

NASA Technical Reports Server (NTRS)

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.

Euro-african MAGSAT Anomaly-tectonic Observations

NASA Technical Reports Server (NTRS)

Hinze, W. J.; Vonfrese, R. R. B. (Principal Investigator); Olivier, R.

1984-01-01

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.

Gravity and geoid anomalies of the Philippine Sea: Evidence on the depth of compensation for the negative residual water depth anomaly

NASA Technical Reports Server (NTRS)

Bowin, C.

1982-01-01

A negative free-air gravity anomaly which occurs in the central part of the Philippine Sea was examined to determine the distribution and nature of possible regional mass excesses or deficiencies. Geoid anomalies from GEOS-3 observation were positive. A negative residual geoid anomaly consistent with the area of negative free-air gravity anomalies were found. Theoretical gravity-topography and geoid-topography admittance functions indicated that high density mantle at about 60 km dept could account for the magnitudes of the gravity and residual geoid anomaly and the 1 km residual water depth anomaly in the Philippine Sea. The negative residual depth anomaly may be compensated for by excess density in the uppermost mantle, but the residual geoid and regional free-air gravity anomalies and a slow surface wave velocity structure might result from low-density warm upper mantle material lying beneath the zone of high-density uppermost mantle. From a horizontal disk approximation, the depth of the low-density warm mantle was estimated to be on the order of 200 km.

Coronary artery anomalies in Turner Syndrome.

PubMed

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.

Changing composition of renal calculi in patients with musculoskeletal anomalies.

PubMed

Gnessin, Ehud; Mandeville, Jessica A; Handa, Shelly E; Lingeman, James E

2011-09-01

Calculi from patients with musculoskeletal (MS) anomalies who are largely immobile and prone to urinary infections have been traditionally composed primarily of struvite and carbonate apatite. Because of substantial improvements in the care of these patients in recent decades, stone etiology may have shifted from infectious to metabolic. We assessed the composition of renal calculi and metabolic characteristics in a contemporary cohort of patients with MS anomalies who underwent percutaneous nephrolithotomy (PCNL). Retrospective analysis of patients who underwent PCNL between April 1999 and June 2009 and had follow-up 24-hour urine studies was performed. Patients with MS anomalies included spinal cord injury, myelomeningocele, muscular dystrophy, multiple sclerosis, cerebral palsy, or other clinical syndromes causing kyphoscoliosis and contractures. Our cohort included 33 patients with MS anomalies and 334 consecutive patients as a control group who underwent PCNL and had metabolic workup. Stones were infectious in etiology in 18.4% and 6.2% in MS and control groups, respectively. Thus, most patients harbored stones of metabolic origin. Metabolic stones in the MS group were composed of 52.7% hydroxyapatite, 10.5% calcium oxalate, 7.9% brushite, 2.6% uric acid, 0% cystine, and 7.9% other. Metabolic stones in the control group were 50.5% calcium oxalate, 16.4% hydroxyapatite, 11.5% brushite, 10.8% uric acid, 4.3% cystine, and 0.3% other. Mean 24-hour urine values for patients with metabolic stones in MS/control groups were volume 2.18/1.87 L/d, pH 6.78/6.05, calcium to creatinine ratio 220/151 mg/g, and oxalate 44.8/39.5 mg/d. Although patients with MS anomalies are traditionally thought to harbor infection-related calculi, most will be found to have calculi of metabolic etiology. The incidence of calcium phosphate stones is high in this group of patients, perhaps reflecting their high urinary pH.

A Rare Occurrence of Geminated-Taloned Maxillary Lateral Incisor

PubMed Central

Kayal, Vizhi G

2012-01-01

ABSTRACT The talon cusp is a developmental anomaly characterized by the presence of an accessory cusp like structure projecting from the cingulum area of the anterior teeth. Gemination is an anomaly caused by a single tooth germ that attempted to divide during its development. These developmental anomalies may cause clinical problems including esthetic impairment, pain, caries and tooth crowding. Co-occurrence of two anomalies in a teeth is rare. This paper presents an unusual case of talon cusp on geminated permanent lateral incisor. How to cite this article: Neeraja R, Kayal VG. A Rare Occurrence of Geminated-Taloned Maxillary Lateral Incisor. Int J Clin Pediatr Dent 2012;5(2):136-138. PMID:25206153

Framing anomaly in the effective theory of the fractional quantum Hall effect.

PubMed

Gromov, Andrey; Cho, Gil Young; You, Yizhi; Abanov, Alexander G; Fradkin, Eduardo

2015-01-09

We consider the geometric part of the effective action for the fractional quantum Hall effect (FQHE). It is shown that accounting for the framing anomaly of the quantum Chern-Simons theory is essential to obtain the correct gravitational linear response functions. In the lowest order in gradients, the linear response generating functional includes Chern-Simons, Wen-Zee, and gravitational Chern-Simons terms. The latter term has a contribution from the framing anomaly which fixes the value of thermal Hall conductivity and contributes to the Hall viscosity of the FQH states on a sphere. We also discuss the effects of the framing anomaly on linear responses for non-Abelian FQH states.

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

PubMed

Kim, Hyo Jeong; Park, Chang Il; Lim, Jae Woo; Lee, Gyung Min; Cho, Eunhae; Kim, Hyon J

2018-05-01

The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID. © Copyright: Yonsei University College of Medicine 2018.

Interpreting fluid pressure anomalies in shallow intraplate argillaceous formations

USGS Publications Warehouse

Neuzil, Christopher E.

2015-01-01

Investigations have revealed several instances of apparently isolated highs or lows in pore fluid potential in shallow (< ~ 1 km depth) argillaceous formations in intraplate settings. Formations with the pressure anomalies are distinguished by (1) smaller ratios of hydraulic conductivity to formation thickness and (2) smaller hydraulic (or pressure) diffusivities than those without anomalies. This is consistent with transient Darcian flow caused by strain at rates of ~ 10−17 to 10-16 s-1, by significant perturbing events in the past 104 to 106 annum or by some combination of the two. Plausible causes include erosional downwasting, tectonic strain, and glaciation. In this conceptualization the anomalies provide constraints on formation-scale flow properties, flow history, and local geological forcing in the last 106 annum and in particular indicate zones of low permeability (10−19–10−22 m2) that could be useful for isolation of nuclear waste.

De novo pericentric inversion of chromosome 9 in congenital anomaly.

PubMed

Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

2010-09-01

The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

Transgenerational developmental programming.

PubMed

Aiken, Catherine E; Ozanne, Susan E

2014-01-01

The concept of developmental programming suggests that the early life environment influences offspring characteristics in later life, including the propensity to develop diseases such as the metabolic syndrome. There is now growing evidence that the effects of developmental programming may also manifest in further generations without further suboptimal exposure. This review considers the evidence, primarily from rodent models, for effects persisting to subsequent generations, and evaluates the mechanisms by which developmental programming may be transmitted to further generations. In particular, we focus on the potential role of the intrauterine environment in contributing to a developmentally programmed phenotype in subsequent generations. The literature was systematically searched at http://pubmed.org and http://scholar.google.com to identify published findings regarding transgenerational (F2 and beyond) developmental programming effects in human populations and animal models. Transmission of programming effects is often viewed as a form of epigenetic inheritance, either via the maternal or paternal line. Evidence exists for both germline and somatic inheritance of epigenetic modifications which may be responsible for phenotypic changes in further generations. However, there is increasing evidence for the role of both extra-genomic components of the zygote and the interaction of the developing conceptus with the intrauterine environment in propagating programming effects. The contribution of a suboptimal reproductive tract environment or maternal adaptations to pregnancy may be critical to inheritance of programming effects via the maternal line. As the effects of age exacerbate the programmed metabolic phenotype, advancing maternal age may increase the likelihood of developmental programming effects being transmitted to further generations. We suggest that developmental programming effects could be propagated through the maternal line de novo in generations

48 CFR 519.7012 - Developmental assistance.

Code of Federal Regulations, 2010 CFR

2010-10-01

... SOCIOECONOMIC PROGRAMS SMALL BUSINESS PROGRAMS GSA Mentor-Protégé Program 519.7012 Developmental assistance. The forms of developmental assistance a mentor can provide to a protégé include: (a) Management... Mentor-Protégé Program Manager. ...

Histories of Developmental Education. CRDEUL Monograph.

ERIC Educational Resources Information Center

Lundell, Dana Britt, Ed.; Higbee, Jeanne L., Ed.

This collection of papers on the history of developmental education includes: "Historical Perspectives: With Hindsight We Gain Foresight" (Normal Stahl); "Supporting the Research Mission" (David V. Taylor); "A Brief History of the American Council of Developmental Education Associations" (Hunter R. Boylan);…

Negative gravity anomalies on the moon

NASA Technical Reports Server (NTRS)

Bowin, C.

1975-01-01

Two kinds of negative gravity anomalies on the moon are distinguished - those which show a correspondence to lunar topography and those which appear to be unrelated to surface topography. The former appear to be due to mass deficiencies caused by the cratering process, in large part probably by ejection of material from the crater. Anomalies on the far side which do not correspond to topography are thought to have resulted from irregularities in the thickness of the lunar crust. Localized large negative anomalies adjacent to mascons are considered. Although structures on the moon having a half-wavelength of 800 km or less and large negative or positive gravity anomalies are not in isostatic equilibrium, many of these features have mass loadings of about 1000 kg/sq cm which can be statically sustained on the moon.

A lightweight network anomaly detection technique

DOE PAGES

Kim, Jinoh; Yoo, Wucherl; Sim, Alex; ...

2017-03-13

While the network anomaly detection is essential in network operations and management, it becomes further challenging to perform the first line of detection against the exponentially increasing volume of network traffic. In this paper, we develop a technique for the first line of online anomaly detection with two important considerations: (i) availability of traffic attributes during the monitoring time, and (ii) computational scalability for streaming data. The presented learning technique is lightweight and highly scalable with the beauty of approximation based on the grid partitioning of the given dimensional space. With the public traffic traces of KDD Cup 1999 andmore » NSL-KDD, we show that our technique yields 98.5% and 83% of detection accuracy, respectively, only with a couple of readily available traffic attributes that can be obtained without the help of post-processing. Finally, the results are at least comparable with the classical learning methods including decision tree and random forest, with approximately two orders of magnitude faster learning performance.« less

A lightweight network anomaly detection technique

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

Kim, Jinoh; Yoo, Wucherl; Sim, Alex

While the network anomaly detection is essential in network operations and management, it becomes further challenging to perform the first line of detection against the exponentially increasing volume of network traffic. In this paper, we develop a technique for the first line of online anomaly detection with two important considerations: (i) availability of traffic attributes during the monitoring time, and (ii) computational scalability for streaming data. The presented learning technique is lightweight and highly scalable with the beauty of approximation based on the grid partitioning of the given dimensional space. With the public traffic traces of KDD Cup 1999 andmore » NSL-KDD, we show that our technique yields 98.5% and 83% of detection accuracy, respectively, only with a couple of readily available traffic attributes that can be obtained without the help of post-processing. Finally, the results are at least comparable with the classical learning methods including decision tree and random forest, with approximately two orders of magnitude faster learning performance.« less

A major crustal feature in the southeastern United States inferred from the MAGSAT equivalent source anomaly field

NASA Technical Reports Server (NTRS)

Ruder, M. E.; Alexander, S. S.

1985-01-01

The MAGSAT equivalent-source anomaly field evaluated at 325 km altitude depicts a prominent anomaly centered over southeast Georgia, which is adjacent to the high-amplitude positive Kentucky anomaly. To overcome the satellite resolution constraint in studying this anomaly, conventional geophysical data were included in analysis: Bouguer gravity, seismic reflection and refraction, aeromagnetic, and in-situ stress-strain measurements. This integrated geophysical approach, infers more specifically the nature and extent of the crustal and/or lithospheric source of the Georgia MAGSAT anomaly. Physical properties and tectonic evolution of the area are all important in the interpretation.

[Congenital anomalies of cerebral artery and intracranial aneurysm].

PubMed

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.

Regional magnetic anomaly constraints on continental rifting

NASA Technical Reports Server (NTRS)

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.

Preliminary aeromagnetic anomaly map of California

USGS Publications Warehouse

Roberts, Carter W.; Jachens, Rober C.

1999-01-01

The magnetization in crustal rocks is the vector sum of induced in minerals by the Earth’s present main field and the remanent magnetization of minerals susceptible to magnetization (chiefly magnetite) (Blakely, 1995). The direction of remanent magnetization acquired during the rock’s history can be highly variable. Crystalline rocks generally contain sufficient magnetic minerals to cause variations in the Earth’s magnetic field that can be mapped by aeromagnetic surveys. Sedimentary rocks are generally weakly magnetized and consequently have a small effect on the magnetic field: thus a magnetic anomaly map can be used to “see through” the sedimentary rock cover and can convey information on lithologic contrasts and structural trends related to the underlying crystalline basement (see Nettleton,1971; Blakely, 1995). The magnetic anomaly map (fig. 2) provides a synoptic view of major anomalies and contributes to our understanding of the tectonic development of California. Reference fields, that approximate the Earth’s main (core) field, have been subtracted from the recorded magnetic data. The resulting map of the total magnetic anomalies exhibits anomaly patterns related to the distribution of magnetized crustal rocks at depths shallower than the Curie point isotherm (the surface within the Earth beneath which temperatures are so high that rocks lose their magnetic properties). The magnetic anomaly map has been compiled from existing digital data. Data obtained from aeromagnetic surveys that were made at different times, spacings and elevations, were merged by analytical continuation of each set onto a common surface 305 m (1000 ft) above terrain. Digital data in this compatible form allows application of analytical techniques (Blakley, 1995) that can be used to enhance anomaly characteristics (e.g., wavelength and trends) and provide new interpretive information.

CDC Kerala 15: Developmental Evaluation Clinic (2-10 y)--developmental diagnosis and use of home intervention package.

PubMed

Nair, M K C; Lakshmi, M A; Latha, S; Lakshmi, Geetha; Harikumaran Nair, G S; Bhaskaran, Deepa; George, Babu; Leena, M L; Russell, Paul Swamidhas Sudhakar

2014-12-01

To describe the last 5 years' experience of Child Development Centre (CDC), Kerala Developmental Evaluation Clinic II for children between 2 and 10 y, referred for suspicion of developmental lag in the preschool years and scholastic difficulty in the primary classes with specific focus on developmental profile and the experience of the home based intervention package taught to the mothers. A team of evaluators including developmental therapist, preschool teacher with special training in clinical child development, speech therapist, special educator, clinical psychologist and developmental pediatrician assessed all the children referred to CDC Kerala. Denver Developmental Screening Test (DDST-II), Vineland Social Maturity Scale (VSMS) and Intelligent Quotient (IQ) tests were administered to all children below 6 y and those above 6 with apparent developmental delay. Speech/delay (35.9%), behavior problem (15.4%), global delay/ intellectual disability (15.4%), learning problem (10.9%), pervasive developmental disorders (7.7%), seizure disorder (1.7%), hearing impairment (0.7%), and visual impairment (0.7%) were the clinical diagnosis by a developmental pediatrician. Each child with developmental problem was offered a home based intervention package consisting of developmental therapy and special education items, appropriate to the clinical diagnosis of the individual child and the same was taught to the mother. The experience of conducting the developmental evaluation clinic for children between 2 and 10 y has shown that a team consisting of developmental therapist, speech therapist, preschool teacher, special educator, clinical child psychologist and developmental pediatrician, using appropriate test results of the child could make a clinical diagnosis good enough for providing early intervention therapy using a home based intervention package.

Quantum anomalies in nodal line semimetals

NASA Astrophysics Data System (ADS)

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.

DSCS II. Battery Anomaly Investigation Satellites 9437 and 9438.

DTIC Science & Technology

1980-04-25

Chronology Prior to Identifying the Anomaly 2-1 3 . ANOMALY OBSERVATIONS 3 -1 3.1 Satellite 9437 3 -1 3.1.1 State of the Batteries Prior to the Anomaly...Observation 3 -1 3.1.2 Anomalous Behavior 3 -1 3.2 Satellite 9438 3 -6 3.2.1 State of the Batteries Prior to the Anomaly Observation 3 -6 3.2.2 Anomalous...Behavior 3 -6 4. ANOMALY INVESTIGATIONS 4-1 4.1 Scope 4-1 4.2 Postulated Causes of the Anomaly 4-1 4.3 Cell Short Circuits 4-2 4.3.1 Evidence in Support of

Earth Radiation Budget Experiment (ERBE) scanner instrument anomaly investigation

NASA Technical Reports Server (NTRS)

Watson, N. D.; Miller, J. B.; Taylor, L. V.; Lovell, J. B.; Cox, J. W.; Fedors, J. C.; Kopia, L. P.; Holloway, R. M.; Bradley, O. H.

1985-01-01

The results of an ad-hoc committee investigation of in-Earth orbit operational anomalies noted on two identical Earth Radiation Budget Experiment (ERBE) Scanner instruments on two different spacecraft busses is presented. The anomalies are attributed to the bearings and the lubrication scheme for the bearings. A detailed discussion of the pertinent instrument operations, the approach of the investigation team and the current status of the instruments now in Earth orbit is included. The team considered operational changes for these instruments, rework possibilities for the one instrument which is waiting to be launched, and preferable lubrication considerations for specific space operational requirements similar to those for the ERBE scanner bearings.

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

PubMed Central

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. PMID:28178351

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

PubMed

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.

Mechanisms of northeastern Brazil rainfall anomalies due to Southern Tropical Atlantic variability

NASA Astrophysics Data System (ADS)

Neelin, J.; Su, H.

2004-05-01

Observational studies have shown that the rainfall anomalies in eastern equatorial South America, including Nordeste Brazil, have a positive correlation with tropical southern Atlantic sea surface temperature (SST) anomalies. Such relationships are reproduced in model simulations with the quasi-equilibrium tropical circulation model (QTCM), which includes a simple land model. A suite of model ensemble experiments is analysed using observed SST over the tropical oceans, the tropical Atlantic and the tropical southern Atlantic (30S-0), respectively (with climatological SST in the remainder of the oceans). Warm tropical south Atlantic SST anomalies yield positive precipitation anomalies over the Nordeste and the southern edge of the Atlantic marine intertropical convergence zone (ITCZ). Mechanisms associated with moisture variations are responsible for the land precipitation changes. Increases in moisture over the Atlantic cause positive anomalies in moisture advection, spreading increased moisture downwind. Where the basic state is far from the convective stability threshold, moisture changes have little effect, but the margins of the climatological convection zone are affected. The increased moisture supply due to advection is enhanced by increases in low-level convergence required by moist static energy balances. The moisture convergence term is several times larger, but experiments altering the moisture advection confirm that the feedback is initiated by wind acting on moisture gradient. This mechanism has several features in common with the recently published "upped-ante" mechanism for El Nino impacts on this region. In that case, the moisture gradient is initiated by warm free tropospheric temperature anomalies increasing the typical value of low-level moisture required to sustain convection in the convection zones. Both mechanisms suggest the usefulness of coordinating ocean and land in situ observations of boundary layer moisture.

Toward a Narrower, More Pragmatic View of Developmental Dyspraxia

PubMed Central

Steinman, Kyle J.; Mostofsky, Stewart H.; Denckla, Martha B.

2010-01-01

Apraxia traditionally refers to impaired ability to carry out skilled movements in the absence of fundamental sensorimotor, language, or general cognitive impairment sufficient to preclude them. The child neurology literature includes a much broader and varied usage of the term developmental dyspraxia. It has been used to describe a wide range of motor symptoms, including clumsiness and general coordination difficulties, in various developmental disorders (including autistic spectrum disorders, developmental language disorders, and perinatal stroke). We argue for the need to restrict use of the term developmental dyspraxia to describe impaired performance of skilled gestures, recognizing that, unlike acquired adult-onset apraxia, coexisting sensory and motor problems may also be present. PMID:20032517

Developmental biology, the stem cell of biological disciplines.

PubMed

Gilbert, Scott F

2017-12-01

Developmental biology (including embryology) is proposed as "the stem cell of biological disciplines." Genetics, cell biology, oncology, immunology, evolutionary mechanisms, neurobiology, and systems biology each has its ancestry in developmental biology. Moreover, developmental biology continues to roll on, budding off more disciplines, while retaining its own identity. While its descendant disciplines differentiate into sciences with a restricted set of paradigms, examples, and techniques, developmental biology remains vigorous, pluripotent, and relatively undifferentiated. In many disciplines, especially in evolutionary biology and oncology, the developmental perspective is being reasserted as an important research program.

MAGSAT investigation of crustal magnetic anomalies in the eastern Indian Ocean

NASA Technical Reports Server (NTRS)

Sailor, R. V.; Lazarewicz, A. R.

1983-01-01

Crustal magnetic anomalies in a region of the eastern Indian Ocean were studied using data from NASA's MAGSAT mission. The investigation region (0 deg to 50 deg South, 75 to 125 deg East) contains several important tectonic features, including the Broken Ridge, Java Trench, Ninetyeast Ridge, and Southeast Indian Ridge. A large positive magnetic anomaly is associated with the Broken Ridge and smaller positive anomalies correlate with the Ninetyeast Ridge and western Australia. Individual profiles of scalar data (computed from vector components) were considered to determine the overall data quality and resolution capability. A set of MAGSAT ""Quiet-Time'' data was used to compute an equivalent source crustal magnetic anomaly map of the study region. Maps of crustal magnetization and magnetic susceptibility were computed from the equivalent source dipoles. Gravity data were used to help interpretation, and a map of the ratio of magnetization to density contrasts was computed using Poisson's relation. The results are consistent with the hypothesis of induced magnetization of a crustal layer having varying thickness and composition.

The incidence of coronary anomalies on routine coronary computed tomography scans

PubMed Central

Karabay, Kanber Ocal; Yildiz, Abdulmelik; Bagirtan, Bayram; Geceer, Gurkan; Uysal, Ender

2013-01-01

Summary Objective This study aimed to assess the incidence of coronary anomalies using 64-multi-slice coronary computed tomography (MSCT). Methods The diagnostic MSCT scans of 745 consecutive patients were reviewed. Results The incidence of coronary anomalies was 4.96%. The detected coronary anomalies included the conus artery originating separately from the right coronary sinus (RCS) (n = 8, 1.07%), absence of the left main artery (n = 7, 0.93%), a superior right coronary artery (RCA) (n = 7, 0.93%), the circumflex artery (CFX) arising from the RCS (n = 4, 0.53%), the CFX originating from the RCA (n = 2, 0.26%), a posterior RCA (n = 1, 0.13%), a coronary fistula from the left anterior descending artery and RCA to the pulmonary artery (n = 1, 0.13%), and a coronary aneurysm (n = 1, 0.13%). Conclusions This study indicated that MSCT can be used to detect common coronary anomalies, and shows it has the potential to aid cardiologists and cardiac surgeons by revealing the origin and course of the coronary vessels. PMID:24042853

DOWN'S ANOMALY.

ERIC Educational Resources Information Center

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)…

Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect.

PubMed

Zhou, Guangwei; Schwartz, Lynn Thomas; Gopen, Quinton

2009-02-01

To identify the occurrence of inner ear structural anomalies and conductive hearing loss (CHL) in children with Apert syndrome. Retrospective review. Pediatric tertiary referral center. Twenty pediatric patients with Apert syndrome were found; all patients (38/40 ears) had inner ear anomalies. Computerized tomography of the head/temporal bone, pure-tone (including air and bone conduction) audiometry, and tympanometry. Imaging demonstrating inner ear anomalies, including malformations of the cochlea, dilated vestibule, and/or semicircular canal; audiologic findings of air-bone gap(s). Hearing loss was found in 90% of the patients with Apert syndrome, and 80% of them had CHL. Air-bone gaps were found at all frequencies, with larger gaps at low frequencies. Fifty percent (20/40) of the ears had better than 0 dB hearing level bone conduction thresholds at 250 and/or 500 Hz. Normal middle ear pressure and mobility were found in all ears with intact eardrum. Inner ear anomalies were found in all patients, and 90% of them had bilateral involvement. Most frequently observed inner ear anomalies were dilated vestibule, malformed lateral semicircular canal, and cochlear dysplasia. Children with Apert syndrome may present with significant CHL that cannot be explained by minor middle ear pathologies alone. This conductive loss may be, at least partially, attributed to the inner ear anomalies; however, these structural anomalies are usually not recognized in these patients. Failure to close air-bone gap after surgical intervention may raise the suspicion of inner ear anomalies, and computed tomographic scan of the temporal bone can provide definitive proof.

Multiculturalism in Developmental Education. CRDEUL Monograph.

ERIC Educational Resources Information Center

Higbee, Jeanne L., Ed.; Lundell, Dana Britt, Ed.; Duranczyk, Irene M., Ed.

This collection of papers is intended to help make connections between multicultural education and developmental education. The papers include an introduction by Jeanne L. Higbee and: "The Centrality of Multiculturalism in Developmental Education" (Karen L. Miksch, Patrick L. Bruch, Jeanne L. Higbee, Rashne R. Jehangir, and Data Britt…

Occurrence and Detectability of Thermal Anomalies on Europa

NASA Astrophysics Data System (ADS)

Hayne, Paul O.; Christensen, Philip R.; Spencer, John R.; Abramov, Oleg; Howett, Carly; Mellon, Michael; Nimmo, Francis; Piqueux, Sylvain; Rathbun, Julie A.

2017-10-01

Endogenic activity is likely on Europa, given its young surface age of and ongoing tidal heating by Jupiter. Temperature is a fundamental signature of activity, as witnessed on Enceladus, where plumes emanate from vents with strongly elevated temperatures. Recent observations suggest the presence of similar water plumes at Europa. Even if plumes are uncommon, resurfacing may produce elevated surface temperatures, perhaps due to near-surface liquid water. Detecting endogenic activity on Europa is one of the primary mission objectives of NASA’s planned Europa Clipper flyby mission.Here, we use a probabilistic model to assess the likelihood of detectable thermal anomalies on the surface of Europa. The Europa Thermal Emission Imaging System (E-THEMIS) investigation is designed to characterize Europa’s thermal behavior and identify any thermal anomalies due to recent or ongoing activity. We define “detectability” on the basis of expected E-THEMIS measurements, which include multi-spectral infrared emission, both day and night.Thermal anomalies on Europa may take a variety of forms, depending on the resurfacing style, frequency, and duration of events: 1) subsurface melting due to hot spots, 2) shear heating on faults, and 3) eruptions of liquid water or warm ice on the surface. We use numerical and analytical models to estimate temperatures for these features. Once activity ceases, lifetimes of thermal anomalies are estimated to be 100 - 1000 yr. On average, Europa’s 10 - 100 Myr surface age implies a resurfacing rate of ~3 - 30 km2/yr. The typical size of resurfacing features determines their frequency of occurrence. For example, if ~100 km2 chaos features dominate recent resurfacing, we expect one event every few years to decades. Smaller features, such as double-ridges, may be active much more frequently. We model each feature type as a statistically independent event, with probabilities weighted by their observed coverage of Europa’s surface. Our results

Global magnetic anomaly and aurora of Neptune

NASA Technical Reports Server (NTRS)

Cheng, Andrew 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.

Sharing AIS Related Anomalies (SARA)

DTIC Science & Technology

2016-03-01

Maritime Integrated Command, Control and Communications IMO International Maritime Organization IQ Information Quality ISI Information Sharing...way to summarize level 1 anomalies, an Information Quality ( IQ ) approach was selected. One of the reasons to favour this approach is the option to...Ray [31], but with slightly different IQ dimensions. Six dimensions of IQ have been selected to describe level 2 anomalies (described in Table 3.1

From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

PubMed

Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

Warm Anomaly Effects on California Current Phytoplankton

NASA Astrophysics Data System (ADS)

Gomez Ocampo, E.; Gaxiola-Castro, G.; Beier, E.; Durazo, R.

2016-02-01

Positive temperature anomalies were reported in the NE Pacific Ocean since the boreal winter of 2013-2014. Previous studies showed that these anomalies were caused by lower than normal rates of heat loss from the ocean to the atmosphere and by relatively weak cold water advection to the upper ocean. Anomalous Sea Surface Temperature (SST), Absolute Dynamic Topography (ADT), and Chlorophyll (CHL) obtained from monthly remote sensing data were registered in the California Current region during August 2014. Anomalies appeared around the coastal and oceanic zones, particularly in the onshore zone between Monterey Bay, California and Magdalena Bay, Baja California. High positive SST anomalous values up to 4ºC above the long-term mean, 20 cm in ADT, and less of 4.5 mg m-3 of CHL were registered. Changes of 20 cm in ADT above the average are equivalent to 50 m thermocline deepening considering typical values of stratification for the area, which in turn influenced the availability of nutrients and light for phytoplankton growth in the euphotic zone. To examine the influence of the warm anomaly on phytoplankton production, we fitted with Generalized Additive Models the relationship between monthly primary production satellite data and ADT. Primary production inferred from the model, showed during August 2014 high negative anomalies (up to 0.5 gC m-2 d1) in the coastal zone. The first empirical orthogonal function of ADT and PP revealed that the highest ADT anomalies and the lowest primary production occurred off the Baja California Peninsula, between Punta Eugenia and Cabo San Lucas. Preliminary conclusions showed that warm anomaly affected negatively to phytoplankton organisms during August 2014, being this evident by low biomass and negative primary production anomalies as result of pycnocline deepens.

Zebrafish embryo developmental toxicology assay.

PubMed

Panzica-Kelly, Julieta M; Zhang, Cindy X; Augustine-Rauch, Karen

2012-01-01

A promising in vitro zebrafish developmental toxicology assay was generated to test compounds for their teratogenic potential. The assay's predictivity is approximately 87% in AB strain fish (Brannen KC et al., Birth Defects Res B Dev Reprod Toxicol 89:66-77, 2010). The procedure entails exposing dechorionated gastrulation-stage embryos to a range of compound concentrations for 5 days throughout embryonic and larva development. The larvae are evaluated for viability in order to identify an LC25 (the compound concentration in which 25% lethality is observed) and morphological anomalies using a numerical score system to identify the NOAEL (no observed adverse effect level). These values are used to calculate the teratogenic index (LC25/NOAEL ratio) of each compound. If the teratogenic index is equal to or greater than 10 then the compound is classified as a teratogen, and if the ratio is less than 10 then the compound is classified as a nonteratogen (Brannen KC et al., Birth Defects Res B Dev Reprod Toxicol 89:66-77, 2010).

Case-control analysis of paternal age and trisomic anomalies.

PubMed

De Souza, E; Morris, J K

2010-11-01

To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome. Case-control: cases with each of these syndromes were matched to four controls with Down syndrome from within the same congenital anomaly register and with maternal age within 6 months. Data from 22 EUROCAT congenital anomaly registers in 12 European countries. Diagnoses with observed or (for terminations) predicted year of birth from 1980 to 2005, comprising live births, fetal deaths with gestational age ≥ 20 weeks and terminations after prenatal diagnosis of the anomaly. Data include 374 cases of Patau syndrome, 929 of Edwards syndrome, 295 of Klinefelter syndrome, 28 of XYY syndrome and 5627 controls with Down syndrome. Odds ratio (OR) associated with a 10-year increase in paternal age for each anomaly was estimated using conditional logistic regression. Results were adjusted to take account of the estimated association of paternal age with Down syndrome (1.11; 95% CI 1.01 to 1.23). The OR for Patau syndrome was 1.10 (95% CI 0.83 to 1.45); for Edwards syndrome, 1.15 (0.96 to 1.38); for Klinefelter syndrome, 1.35 (1.02 to 1.79); and for XYY syndrome, 1.99 (0.75 to 5.26). There was a statistically significant increase in the odds of Klinefelter syndrome with increasing paternal age. The larger positive associations of Klinefelter and XYY syndromes with paternal age compared with Patau and Edwards syndromes are consistent with the greater percentage of these sex chromosome anomalies being of paternal origin.

A Spatially Constrained Multi-autoencoder Approach for Multivariate Geochemical Anomaly Recognition

NASA Astrophysics Data System (ADS)

Lirong, C.; Qingfeng, G.; Renguang, Z.; Yihui, X.

2017-12-01

Separating and recognizing geochemical anomalies from the geochemical background is one of the key tasks in geochemical exploration. Many methods have been developed, such as calculating the mean ±2 standard deviation, and fractal/multifractal models. In recent years, deep autoencoder, a deep learning approach, have been used for multivariate geochemical anomaly recognition. While being able to deal with the non-normal distributions of geochemical concentrations and the non-linear relationships among them, this self-supervised learning method does not take into account the spatial heterogeneity of geochemical background and the uncertainty induced by the randomly initialized weights of neurons, leading to ineffective recognition of weak anomalies. In this paper, we introduce a spatially constrained multi-autoencoder (SCMA) approach for multivariate geochemical anomaly recognition, which includes two steps: spatial partitioning and anomaly score computation. The first step divides the study area into multiple sub-regions to segregate the geochemical background, by grouping the geochemical samples through K-means clustering, spatial filtering, and spatial constraining rules. In the second step, for each sub-region, a group of autoencoder neural networks are constructed with an identical structure but different initial weights on neurons. Each autoencoder is trained using the geochemical samples within the corresponding sub-region to learn the sub-regional geochemical background. The best autoencoder of a group is chosen as the final model for the corresponding sub-region. The anomaly score at each location can then be calculated as the euclidean distance between the observed concentrations and reconstructed concentrations of geochemical elements.The experiments using the geochemical data and Fe deposits in the southwestern Fujian province of China showed that our SCMA approach greatly improved the recognition of weak anomalies, achieving the AUC of 0.89, compared

Shortening anomalies in supersymmetric theories

DOE PAGES

Gomis, Jaume; Komargodski, Zohar; Ooguri, Hirosi; ...

2017-01-17

We present new anomalies in two-dimensional N = (2, 2) superconformal theories. They obstruct the shortening conditions of chiral and twisted chiral multiplets at coincident points. This implies that marginal couplings cannot be promoted to background superfields in short representations. Therefore, standard results that follow from N = (2, 2) spurion analysis are invalidated. These anomalies appear only if supersymmetry is enhanced beyond N = (2; 2). These anomalies explain why the conformal manifolds of the K 3 and T 4 sigma models are not Kähler and do not factorize into chiral and twisted chiral moduli spaces and why theremore » are no N = (2, 2) gauged linear sigma models that cover these conformal manifolds. We also present these results from the point of view of the Riemann curvature of conformal manifolds.« less

Shortening anomalies in supersymmetric theories

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

Gomis, Jaume; Komargodski, Zohar; Ooguri, Hirosi

We present new anomalies in two-dimensional N = (2, 2) superconformal theories. They obstruct the shortening conditions of chiral and twisted chiral multiplets at coincident points. This implies that marginal couplings cannot be promoted to background superfields in short representations. Therefore, standard results that follow from N = (2, 2) spurion analysis are invalidated. These anomalies appear only if supersymmetry is enhanced beyond N = (2; 2). These anomalies explain why the conformal manifolds of the K 3 and T 4 sigma models are not Kähler and do not factorize into chiral and twisted chiral moduli spaces and why theremore » are no N = (2, 2) gauged linear sigma models that cover these conformal manifolds. We also present these results from the point of view of the Riemann curvature of conformal manifolds.« less

Continental and oceanic magnetic anomalies: Enhancement through GRM

NASA Technical Reports Server (NTRS)

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

1985-01-01

In contrast to the POGO and MAGSAT satellites, the Geopotential Research Mission (GRM) satellite system will orbit at a minimum elevation to provide significantly better resolved lithospheric magnetic anomalies for more detailed and improved geologic analysis. In addition, GRM will measure corresponding gravity anomalies to enhance our understanding of the gravity field for vast regions of the Earth which are largely inaccessible to more conventional surface mapping. Crustal studies will greatly benefit from the dual data sets as modeling has shown that lithospheric sources of long wavelength magnetic anomalies frequently involve density variations which may produce detectable gravity anomalies at satellite elevations. Furthermore, GRM will provide an important replication of lithospheric magnetic anomalies as an aid to identifying and extracting these anomalies from satellite magnetic measurements. The potential benefits to the study of the origin and characterization of the continents and oceans, that may result from the increased GRM resolution are examined.

Developmental Planning: An Introduction for Parents

ERIC Educational Resources Information Center

Noland, Jim

2009-01-01

"Developmental Planning" is the thinking process of using developmental milestones as a general basis for planning and predicting needs for the child within the early years. It considers the time frames associated with normal development across all facets of the child's development. The areas include bone and joint development, movement, sensory…

Prevalence of non-strabismic anomalies of binocular vision in Tamil Nadu: report 2 of BAND study.

PubMed

Hussaindeen, Jameel Rizwana; Rakshit, Archayeeta; Singh, Neeraj Kumar; George, Ronnie; Swaminathan, Meenakshi; Kapur, Suman; Scheiman, Mitchell; Ramani, Krishna Kumar

2017-11-01

Population-based studies on the prevalence of non-strabismic anomalies of binocular vision in ethnic Indians are more than two decades old. Based on indigenous normative data, the BAND (Binocular Vision Anomalies and Normative Data) study aims to report the prevalence of non-strabismic anomalies of binocular vision among school children in rural and urban Tamil Nadu. This population-based, cross-sectional study was designed to estimate the prevalence of non-strabismic anomalies of binocular vision in the rural and urban population of Tamil Nadu. In four schools, two each in rural and urban arms, 920 children in the age range of seven to 17 years were included in the study. Comprehensive binocular vision assessment was done for all children including evaluation of vergence and accommodative systems. In the first phase of the study, normative data of parameters of binocular vision were assessed followed by prevalence estimates of non-strabismic anomalies of binocular vision. The mean and standard deviation of the age of the sample were 12.7 ± 2.7 years. The prevalence of non-strabismic anomalies of binocular vision in the urban and rural arms was found to be 31.5 and 29.6 per cent, respectively. Convergence insufficiency was the most prevalent (16.5 and 17.6 per cent in the urban and rural arms, respectively) among all the types of non-strabismic anomalies of binocular vision. There was no gender predilection and no statistically significant differences were observed between the rural and urban arms in the prevalence of non-strabismic anomalies of binocular vision (Z-test, p > 0.05). The prevalence of non-strabismic anomalies of binocular vision was found to be higher in the 13 to 17 years age group (36.2 per cent) compared to seven to 12 years (25.1 per cent) (Z-test, p < 0.05). Non-strabismic binocular vision anomalies are highly prevalent among school children and the prevalence increases with age. With increasing near visual demands in the higher

Orbital Anomalies in Goddard Spacecraft for Calendar Year 1994

NASA Technical Reports Server (NTRS)

Thomas, Walter B.

1996-01-01

This report summarizes and updates the annual on-orbit performance between January I and December 31, 1994, for spacecraft built by or managed by the Goddard Space Flight Center (GSFC). During 1994, GSFC had 27 active orbiting satellites and I Shuttle-launched and retrieved 'free flyer.' There were 310 reported anomalies among 21 satellites and one GSFC instrument (TOMS). GOES-8 accounted for 66 anomalies, and SAMPES reported 155 'anomalies'. Of the 155 anomalies reported for all but SAMPEX, only 4 affected the spacecraft missions 'substantially' or greater, that is, presented a loss of more than 33% of the total missions. The most frequent subsystem anomalies were Instrument/Payload(44), Timing Command and Control(40), and Attitude Control Systems(33). Of the non-SAMPEX anomalies, 29% had no effect on the missions and 28% caused subsystem or instrument degradation and, for another 28%, no anomaly effect on the mission could be determined. Fifty-three percent of non-SAMPEX anomalies could not be classified according to 'type'; the other most common types were 'systemic'(35), 'random'(19), and 'normal or expected operation'(15). Forty percent of the anomalies were not classified according to failure category; the remaining most frequent occurrences were 'design problems'(50) and 'other known problems'(35).

Prevalence and distribution of dental anomalies in orthodontic patients.

PubMed

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.

Magnetic anomalies in the Cosmonauts Sea, off East Antarctica

NASA Astrophysics Data System (ADS)

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.

Effective Sensor Selection and Data Anomaly Detection for Condition Monitoring of Aircraft Engines

PubMed Central

Liu, Liansheng; Liu, Datong; Zhang, Yujie; Peng, Yu

2016-01-01

In a complex system, condition monitoring (CM) can collect the system working status. The condition is mainly sensed by the pre-deployed sensors in/on the system. Most existing works study how to utilize the condition information to predict the upcoming anomalies, faults, or failures. There is also some research which focuses on the faults or anomalies of the sensing element (i.e., sensor) to enhance the system reliability. However, existing approaches ignore the correlation between sensor selecting strategy and data anomaly detection, which can also improve the system reliability. To address this issue, we study a new scheme which includes sensor selection strategy and data anomaly detection by utilizing information theory and Gaussian Process Regression (GPR). The sensors that are more appropriate for the system CM are first selected. Then, mutual information is utilized to weight the correlation among different sensors. The anomaly detection is carried out by using the correlation of sensor data. The sensor data sets that are utilized to carry out the evaluation are provided by National Aeronautics and Space Administration (NASA) Ames Research Center and have been used as Prognostics and Health Management (PHM) challenge data in 2008. By comparing the two different sensor selection strategies, the effectiveness of selection method on data anomaly detection is proved. PMID:27136561

Effective Sensor Selection and Data Anomaly Detection for Condition Monitoring of Aircraft Engines.

PubMed

Liu, Liansheng; Liu, Datong; Zhang, Yujie; Peng, Yu

2016-04-29

In a complex system, condition monitoring (CM) can collect the system working status. The condition is mainly sensed by the pre-deployed sensors in/on the system. Most existing works study how to utilize the condition information to predict the upcoming anomalies, faults, or failures. There is also some research which focuses on the faults or anomalies of the sensing element (i.e., sensor) to enhance the system reliability. However, existing approaches ignore the correlation between sensor selecting strategy and data anomaly detection, which can also improve the system reliability. To address this issue, we study a new scheme which includes sensor selection strategy and data anomaly detection by utilizing information theory and Gaussian Process Regression (GPR). The sensors that are more appropriate for the system CM are first selected. Then, mutual information is utilized to weight the correlation among different sensors. The anomaly detection is carried out by using the correlation of sensor data. The sensor data sets that are utilized to carry out the evaluation are provided by National Aeronautics and Space Administration (NASA) Ames Research Center and have been used as Prognostics and Health Management (PHM) challenge data in 2008. By comparing the two different sensor selection strategies, the effectiveness of selection method on data anomaly detection is proved.

Retrieving Temperature Anomaly in the Global Subsurface and Deeper Ocean From Satellite Observations

NASA Astrophysics Data System (ADS)

Su, Hua; Li, Wene; Yan, Xiao-Hai

2018-01-01

Retrieving the subsurface and deeper ocean (SDO) dynamic parameters from satellite observations is crucial for effectively understanding ocean interior anomalies and dynamic processes, but it is challenging to accurately estimate the subsurface thermal structure over the global scale from sea surface parameters. This study proposes a new approach based on Random Forest (RF) machine learning to retrieve subsurface temperature anomaly (STA) in the global ocean from multisource satellite observations including sea surface height anomaly (SSHA), sea surface temperature anomaly (SSTA), sea surface salinity anomaly (SSSA), and sea surface wind anomaly (SSWA) via in situ Argo data for RF training and testing. RF machine-learning approach can accurately retrieve the STA in the global ocean from satellite observations of sea surface parameters (SSHA, SSTA, SSSA, SSWA). The Argo STA data were used to validate the accuracy and reliability of the results from the RF model. The results indicated that SSHA, SSTA, SSSA, and SSWA together are useful parameters for detecting SDO thermal information and obtaining accurate STA estimations. The proposed method also outperformed support vector regression (SVR) in global STA estimation. It will be a useful technique for studying SDO thermal variability and its role in global climate system from global-scale satellite observations.

Natural variation in stomatal abundance of Arabidopsis thaliana includes cryptic diversity for different developmental processes

PubMed Central

Delgado, Dolores; Alonso-Blanco, Carlos; Fenoll, Carmen; Mena, Montaña

2011-01-01

Background and Aims Current understanding of stomatal development in Arabidopsis thaliana is based on mutations producing aberrant, often lethal phenotypes. The aim was to discover if naturally occurring viable phenotypes would be useful for studying stomatal development in a species that enables further molecular analysis. Methods Natural variation in stomatal abundance of A. thaliana was explored in two collections comprising 62 wild accessions by surveying adaxial epidermal cell-type proportion (stomatal index) and density (stomatal and pavement cell density) traits in cotyledons and first leaves. Organ size variation was studied in a subset of accessions. For all traits, maternal effects derived from different laboratory environments were evaluated. In four selected accessions, distinct stomatal initiation processes were quantitatively analysed. Key Results and Conclusions Substantial genetic variation was found for all six stomatal abundance-related traits, which were weakly or not affected by laboratory maternal environments. Correlation analyses revealed overall relationships among all traits. Within each organ, stomatal density highly correlated with the other traits, suggesting common genetic bases. Each trait correlated between organs, supporting supra-organ control of stomatal abundance. Clustering analyses identified accessions with uncommon phenotypic patterns, suggesting differences among genetic programmes controlling the various traits. Variation was also found in organ size, which negatively correlated with cell densities in both organs and with stomatal index in the cotyledon. Relative proportions of primary and satellite lineages varied among the accessions analysed, indicating that distinct developmental components contribute to natural diversity in stomatal abundance. Accessions with similar stomatal indices showed different lineage class ratios, revealing hidden developmental phenotypes and showing that genetic determinants of primary and

48 CFR 719.273-8 - Developmental assistance.

Code of Federal Regulations, 2010 CFR

2010-10-01

... (USAID) Mentor-Protégé Program 719.273-8 Developmental assistance. The forms of developmental assistance a Mentor can provide to a Protégé include and are not limited to the following: (a) Guidance...

Severity of dysfluency correlates with basal ganglia activity in persistent developmental stuttering.

PubMed

Giraud, Anne-Lise; Neumann, Katrin; Bachoud-Levi, Anne-Catherine; von Gudenberg, Alexander W; Euler, Harald A; Lanfermann, Heinrich; Preibisch, Christine

2008-02-01

Previous studies suggest that anatomical anomalies [Foundas, A. L., Bollich, A. M., Corey, D. M., Hurley, M., & Heilman, K. M. (2001). Anomalous anatomy of speech-language areas in adults with persistent developmental stuttering. Neurology, 57, 207-215; Foundas, A. L., Corey, D. M., Angeles, V., Bollich, A. M., Crabtree-Hartman, E., & Heilman, K. M. (2003). Atypical cerebral laterality in adults with persistent developmental stuttering. Neurology, 61, 1378-1385; Foundas, A. L., Bollich, A. M., Feldman, J., Corey, D. M., Hurley, M., & Lemen, L. C. et al., (2004). Aberrant auditory processing and atypical planum temporale in developmental stuttering. Neurology, 63, 1640-1646; Jancke, L., Hanggi, J., & Steinmetz, H. (2004). Morphological brain differences between adult stutterers and non-stutterers. BMC Neurology, 4, 23], in particular a reduction of the white matter anisotropy underlying the left sensorimotor cortex [Sommer, M., Koch, M. A., Paulus, W., Weiller, C., & Buchel, C. (2002). Disconnection of speech-relevant brain areas in persistent developmental stuttering. Lancet, 360, 380-383] could be at the origin of persistent developmental stuttering (PDS). Because neural connections between the motor cortex and basal ganglia are implicated in speech motor functions, PDS could also be associated with a dysfunction in basal ganglia activity [Alm, P. (2004). Stuttering and the basal ganglia circuits: a critical review of possible relations. Journal of Communication Disorders, 37, 325-369]. This fMRI study reports a correlation between severity of stuttering and activity in the basal ganglia and shows that this activity is modified by fluency shaping therapy through long-term therapy effects that reflect speech production improvement. A model of dysfunction in stuttering and possible repair modes is proposed that accommodates the data presented here and observations previously made by us and by others.

Grief after second-trimester termination for fetal anomaly: a qualitative study

PubMed Central

Maguire, Marguerite; Light, Alexis; Kuppermann, Miriam; Dalton, Vanessa K.; Steinauer, Jody E.; Kerns, Jennifer L.

2015-01-01

Objectives We aimed to qualitatively evaluate factors that contribute to and alleviate grief associated with termination of a pregnancy for a fetal anomaly and how that grief changes over time. Study design We conducted a longitudinal qualitative study of decision satisfaction, grief and coping among women undergoing termination (dilation and evacuation or induction termination) for fetal anomalies and other complications. We conducted three postprocedure interviews at 1–3 weeks, 3 months and 1 year. We used a generative thematic approach to analyze themes related to grief using NVivo software program. Results Of the 19 women in the overall study, 13 women’s interviews were eligible for analysis of the grief experience. Eleven women completed all three interviews, and two completed only the first interview. Themes that contributed to grief include self-blame for the diagnosis, guilt around the termination decision, social isolation related to discomfort with abortion and grief triggered by reminders of pregnancy. Social support and time are mechanisms that serve to alleviate grief. Conclusions Pregnancy termination in this context is experienced as a significant loss similar to other types of pregnancy loss and is also associated with real and perceived stigma. Women choosing termination for fetal anomalies may benefit from tailored counseling that includes dispelling misconceptions about cause of the anomaly. In addition, efforts to decrease abortion stigma and increase social support may improve women’s experiences and lessen their grief response. Implications The nature and course of grief after second-trimester termination for fetal anomaly are, as of yet, poorly understood. With improved understanding of how women grieve over time, clinicians can better recognize the significance of their patients’ suffering and offer tools to direct their grief toward positive coping. PMID:25499590

Evolution of Tropical and Extratropical Precipitation Anomalies During the 1997 to 1999 ENSO Cycle

NASA Technical Reports Server (NTRS)

Curtis, Scott; Adler, Robert; Huffman, George; Nelkin, Eric; Bolvin, David; Einaudi, Franco (Technical Monitor)

2000-01-01

The 1997-1999 ENSO period was very powerful, but also well observed. Multiple satellite rainfall estimates combined with gauge observations allow for a quantitative analysis of precipitation anomalies in the tropics and elsewhere accompanying the 1997-99 ENSO cycle. An examination of the evolution of the El Nino and accompanying precipitation anomalies revealed that a dry Maritime Continent preceded the formation of positive SST anomalies in the eastern Pacific Ocean. 30-60 day oscillations in the winter of 1996/97 may have contributed to this lag relationship. Furthermore, westerly wind burst events may have maintained the drought over the Maritime Continent. The warming of the equatorial Pacific was then followed by an increase in convection. A rapid transition from El Nino to La Nina occurred in May 1998, but as early as October-November 1997 precipitation indices captured substantial changes in Pacific rainfall anomalies. The global precipitation patterns for this event were in good agreement with the strong consistent ENSO-related precipitation signals identified in earlier studies. Differences included a shift in precipitation anomalies over Africa during the 1997-98 El Nino and unusually wet conditions over northeast Australia during the later stages of the El Nino. Also, the typically wet region in the north tropical Pacific was mostly dry during the 1998-99 La Nina. Reanalysis precipitation was compared to observations during this time period and substantial differences were noted. In particular, the model had a bias towards positive precipitation anomalies and the magnitudes of the anomalies in the equatorial Pacific were small compared to the observations. Also, the evolution of the precipitation field, including the drying of the Maritime Continent and eastward progression of rainfall in the equatorial Pacific was less pronounced for the model compared to the observations.

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.

PubMed

Wang, Rongyue; Lei, Tingying; Fu, Fang; Li, Ru; Jing, Xiangyi; Yang, Xin; Liu, Juan; Li, Dongzhi; Liao, Can

2018-03-26

Chromosome microarray analysis (CMA) is currently the first-tier diagnostic assay for the evaluation of developmental delay (DD) and intellectual disability (ID) with unknown etiology. Here, we present our clinical experience in implementing whole-genome high-resolution single nucleotide polymorphism (SNP) arrays to investigate 489 patients with unexplained DD/ID in whom standard karyotyping analyses showed normal karyotypes. This study aimed to assess the usefulness of CMA for clinical diagnostic testing in the Chinese population. A total of 489 children were classified into three groups: isolated DD/ID (n = 358), DD/ID with epilepsy (n = 49), and DD/ID with other structural anomalies (n = 82). We identified 126 cases (25.8%, 126/489) of pathogenic copy number variants (CNVs) by CMA, including 89 (24.9%, 89/358) with isolated DD/ID, 13 (26.5%, 13/49) with DD/ID with epilepsy, and 24 (29.3%, 24/82) with DD/ID with other structural anomalies. Among the 126 cases of pathogenic CNVs, 79 cases were identified as microdeletion/microduplication syndromes, among which 76 cases were classified as common syndromes, and 3 cases were classified as rare syndromes, including 15q24 microdeletion syndrome, Xq28 microduplication syndrome and Lowe syndrome. Additionally, there were forty-seven cases of non-syndromic pathogenic CNVs. The ABAT, FTSJ1, DYNC1H1, and SETBP1 genes were identified as DD/ID candidate genes. Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD/ID in South China. Copyright © 2018. Published by Elsevier B.V.

An analysis of the relationship between cloud anomalies and sea surface temperature anomalies in a global circulation model

NASA Technical Reports Server (NTRS)

Peterson, Thomas C.; Barnett, Tim P.; Roeckner, Erich; Vonder Haar, Thomas H.

1992-01-01

The relationship between the sea surface temperature anomalies (SSTAs) and the anomalies of the monthly mean cloud cover (including the high-level, low-level, and total cloud cover), the outgoing longwave radiation, and the reflected solar radiation was analyzed using a least absolute deviations regression at each grid point over the open ocean for a 6-yr period. The results indicate that cloud change in association with a local 1-C increase in SSTAs cannot be used to predict clouds in a potential future world where all the oceans are 1-C warmer than at present, because much of the observed cloud changes are due to circulation changes, which in turn are related not only to changes in SSTAs but to changes in SSTA gradients. However, because SSTAs are associated with changes in the local ocean-atmosphere moisture and heat fluxes as well as significant changes in circulation (such as ENSO), SSTAs can serve as a surrogate for many aspects of global climate change.

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

PubMed

Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

2016-05-01

Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

The Recent Atlantic Cold Anomaly: Causes, Consequences, and Related Phenomena

NASA Astrophysics Data System (ADS)

Josey, Simon A.; Hirschi, Joel J.-M.; Sinha, Bablu; Duchez, Aurélie; Grist, Jeremy P.; Marsh, Robert

2018-01-01

Cold ocean temperature anomalies have been observed in the mid- to high-latitude North Atlantic on interannual to centennial timescales. Most notably, a large region of persistently low surface temperatures accompanied by a sharp reduction in ocean heat content was evident in the subpolar gyre from the winter of 2013-2014 to 2016, and the presence of this feature at a time of pervasive warming elsewhere has stimulated considerable debate. Here, we review the role of air-sea interaction and ocean processes in generating this cold anomaly and place it in a longer-term context. We also discuss the potential impacts of surface temperature anomalies for the atmosphere, including the North Atlantic Oscillation and European heat waves; contrast the behavior of the Atlantic with the extreme warm surface event that occurred in the North Pacific over a similar timescale; and consider the possibility that these events represent a response to a change in atmospheric planetary wave forcing.

Satellite-Altitude Geopotential Study of the Kursk Magnetic Anomaly (KMA)

NASA Technical Reports Server (NTRS)

Taylor, Patrick T.; Kim, Hyung Rae; vonFrese, Ralph R. B.; Potts, Laramie V.; Frawley, James J.

2003-01-01

With the successful launch of the Orsted, SAC-C and CHAMP satellites we are able to make both magnetic and gravity anomaly maps of the Earth's crust; magnetic from all three missions and gravity with CHAMP. We have used these data to study the KMA area of Russia. This is an important region for several reasons: (1) we have already made satellite magnetic anomaly maps of this region and they can be integrated with the gravity data from CHAMP for a comprehensive interpretation; (2) KMA contains the largest know reserves of iron-ore in the world; and (3) there are significant ground truth data available for this region from aeromagnetic, balloon surveys and geophysical mapping, including extensive rock magnetic/paleo-magnetic and geologic studies. Utilizing the gravity observations, collocated with the magnetic data enabled us to make a joint interpretation. While there is a high amplitude magnetic anomaly recorded over the KMA the gravity anomaly at satellite altitude revealed by CHAMP is only around 3-6 mGal but is not centered on the magnetic high. This would indicate that despite the fact that in the region of the KMA the rocks have a higher percentage of iron than in the surrounding formations the entire area is Archean-Proterozoic in age and therefore very dense.

Engima of a thermal anomaly - A TM/AVHRR study of the volcanic Arabian highlands

NASA Technical Reports Server (NTRS)

Blodget, H. W.; Andre, C. G.; Masuoka, P. M.

1987-01-01

Discovery of a large thermal anomaly in the western Arabian highlands on Landsat TM imagery is reported. The anomaly, 15 C warmer than surroundings, forms a 2-km-wide arc around the southern flank of Jebel Chada, a volcano active in 1256 AD. It is recorded by AVHRR imagery as well, despite the 1.1-km spatial resolution of this sensor. Air photos and geologic maps show no bedrock unit that corresponds to the anomaly. Digital techniques were applied to the TM and AVHRR data, including contrast enhancement, density slicing, principal components analysis, and construction of multiband composite images. It is concluded that the anomaly results from a thin cover of volcanic ash or cinder that is optically indistinguishable from underlying basalt, rather than from internal (volcanic or hydrologic) heat sources.

Conditional anomaly detection methods for patient–management alert systems

PubMed Central

Valko, Michal; Cooper, Gregory; Seybert, Amy; Visweswaran, Shyam; Saul, Melissa; Hauskrecht, Milos

2010-01-01

Anomaly detection methods can be very useful in identifying unusual or interesting patterns in data. A recently proposed conditional anomaly detection framework extends anomaly detection to the problem of identifying anomalous patterns on a subset of attributes in the data. The anomaly always depends (is conditioned) on the value of remaining attributes. The work presented in this paper focuses on instance–based methods for detecting conditional anomalies. The methods rely on the distance metric to identify examples in the dataset that are most critical for detecting the anomaly. We investigate various metrics and metric learning methods to optimize the performance of the instance–based anomaly detection methods. We show the benefits of the instance–based methods on two real–world detection problems: detection of unusual admission decisions for patients with the community–acquired pneumonia and detection of unusual orders of an HPF4 test that is used to confirm Heparin induced thrombocytopenia — a life–threatening condition caused by the Heparin therapy. PMID:25392850

Detailed gravity anomalies from Geos 3 satellite altimetry data

NASA Technical Reports Server (NTRS)

Gopalapillai, G. S.; Mourad, A. G.

1979-01-01

Detailed gravity anomalies are computed from a combination of Geos 3 satellite altimeter and terrestrial gravity data using least-squares principles. The mathematical model used is based on the Stokes' equation modified for a nonglobal solution. Using Geos 3 data in the calibration area, the effects of several anomaly parameter configurations and data densities/distributions on the anomalies and their accuracy estimates are studied. The accuracy estimates for 1 deg x 1 deg mean anomalies from low density altimetry data are of the order of 4 mgal. Comparison of these anomalies with the terrestrial data and also with Rapp's data derived using collocation techniques show rms differences of 7.2 and 4.9 mgal, respectively. Indications are that the anomaly accuracies can be improved to about 2 mgal with high density data. Estimation of 30 in. x 30 in. mean anomalies indicates accuracies of the order of 5 mgal. Proper verification of these results will be possible only when accurate ground truth data become available.

Precursor Analysis for Flight- and Ground-Based Anomaly Risk Significance Determination

NASA Technical Reports Server (NTRS)

Groen, Frank

2010-01-01

This slide presentation reviews the precursor analysis for flight and ground based anomaly risk significance. It includes information on accident precursor analysis, real models vs. models, and probabilistic analysis.

Debendox does not cause the Poland anomaly.

PubMed Central

David, T J

1982-01-01

The suggestion that Debendox may cause the Poland anomaly is refuted by a study of the antenatal drug exposure in 46 cases of the Poland anomaly and 32 cases of isolated absence of the pectoralis major. Debendox had been prescribed in one case of the Poland anomaly and in one case of isolated pectoralis absence, but in neither was the compound given during organogenesis. In none of the 78 cases could Debendox be causally implicated. PMID:7092316

The 2014-2015 Warming Anomaly in the Southern California Current System: Glider Observations

NASA Astrophysics Data System (ADS)

Zaba, K. D.; Rudnick, D. L.

2016-02-01

During 2014-2015, basin-wide patterns of oceanic and atmospheric anomalies affected surface waters throughout the North Pacific Ocean. We present regional physical and biological effects of the warming, as observed by our autonomous underwater gliders in the southern California Current System (SCCS). Established in 2006, the California Glider Network provides sustained subsurface observations for monitoring the coastal effects of large-scale climate variability. Along repeat sections that extend to 350-500 km in offshore distance and 500 m in depth, Spray gliders have continuously occupied CalCOFI lines 66.7, 80, and 90 for nearly nine years. Following a sawtooth trajectory, the gliders complete each dive in approximately 3 hours and over 3 km. Measured variables include pressure, temperature, salinity, chlorophyll fluorescence, and velocity. For each of the three lines, a comprehensive climatology has been constructed from the multiyear timeseries. The ongoing surface-intensified warming anomaly, which began locally in early 2014 and persists through present, is unprecedented in the glider climatology. Reaching up to 5°C, positive temperature anomalies have been generally confined to the upper 50 m and persistent for over 20 months. The timing of the warming was in phase along each glider line but out of phase with equatorial SST anomalies, suggesting a decoupling of tropical and mid-latitude dynamics. Concurrent physical oceanographic anomalies included a depressed thermocline and high stratification. An induced biological response was apparent in the deepening of the subsurface chlorophyll fluorescence maximum. Ancillary atmospheric data from the NCEP North American Mesoscale (NAM) model indicate that a combination of surface forcing anomalies, namely high downward heat flux and weak wind stress magnitude, caused the unusual warm, downwelling conditions. With a strong El Niño event in the forecast for winter 2015-2016, our sustained glider network will

Large-Angle Anomalies in the CMB

DOE PAGES

Copi, Craig J.; Huterer, Dragan; Schwarz, Dominik J.; ...

2010-01-01

We review the recently found large-scale anomalies in the maps of temperature anisotropies in the cosmic microwave background. These include alignments of the largest modes of CMB anisotropy with each other and with geometry and direction of motion of the solar ssystem, and the unusually low power at these largest scales. We discuss these findings in relation to expectation from standard inflationary cosmology, their statistical significance, the tools to study them, and the various attempts to explain them.

LHCb anomalies from a natural perspective

NASA Astrophysics Data System (ADS)

García, Isabel García

2017-03-01

Tension between the Standard Model (SM) and data concerning b → s processes has become apparent. Most notoriously, concerning the R K ratio, which probes lepton non-universality in b decays, and measurements involving the decays B → K ∗ μ + μ - and B s → ϕμ + μ -. Careful analysis of a wide range of b → s data shows that certain kinds of new physics can significantly ameliorate agreement with experiment. Here, we show that these b → s anomalies can be naturally accommodated in the context of Natural Scherk-Schwarz Theories of the Weak Scale — a class of models designed to address the hierarchy problem. No extra states beyond those naturally present in the theory need to be introduced in order to accommodate these anomalies, and the assumptions required regarding flavor violating couplings are very mild. Moreover, the structure of these models makes sharp predictions regarding B meson decays into final states including τ + τ - pairs, which will provide a future test of this type of theories.

Gravity anomalies on Venus

NASA Technical Reports Server (NTRS)

Sjogren, W. L.; Phillips, R. J.; Birkeland, P. W.; Wimberly, R. N.

1980-01-01

Doppler radio tracking of the Pioneer Venus orbiter has provided gravity measures over a significant portion of Venus. Feature resolution is approximately 300-1000 km within an area extending from 10 deg S to 40 deg N latitude and from 70 deg W to 130 deg E longitude (approximately equal to 200 deg). Many anomalies were detected, and there is considerable correlation with radar altimetry topography (Pettengill et al., 1980). The amplitudes of the anomalies are relatively mild and similar to those on earth at this resolution. Calculations for isostatic adjustment reveal that significant compensation has occurred.

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

PubMed

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.

Selective pathologies of the head and neck in children: a developmental perspective.

PubMed

Ozolek, John A

2009-09-01

The range of pathology seen in the head and neck region is truly amazing and to a large extent probably mirrors the complex signaling pathways and careful orchestration of events that occurs between the primordial germ layers during the development of this region. As is true in general for the entire discipline of pediatric pathology, the head and neck pathology within this age group is as diverse and different as its adult counterpart. Cases that come across the pediatric head and neck surgical pathology bench are more heavily weighted toward developmental and congenital lesions such as branchial cleft anomalies, thyroglossal duct cysts, ectopias, heterotopias, choristomas, and primitive tumors. Many congenital "benign" lesions can cause significant morbidity and even mortality if they compress the airway or other vital structures. Exciting investigations into the molecular embryology of craniofacial development have begun to shed light on the pathogenesis of craniofacial developmental lesions and syndromes. Much more investigation is needed, however, to intertwine aberrations in the molecular ontogeny and development of the head and neck regions to the represented pathology. This review will integrate traditional morphologic embryology with some of the recent advances in the molecular pathways of head and neck development followed by a discussion of a variety of developmental lesions finishing with tumors presumed to be derived from pluripotent/progenitor cells and tumors that show anomalous or aborted development.

Modeling of self-potential anomalies near vertical dikes.

USGS Publications Warehouse

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

Chemical Compositions and Abundance Anomalies in Stellar Coronae ADP 99

NASA Technical Reports Server (NTRS)

Oliversen, Ronald J. (Technical Monitor); Drake, Jeremy

2004-01-01

New atomic data for tackling some of our spectra have been investigated by co-I Laming (NRL), including the effects of recombination on spectral line fluxes that are not included in, for example, the CHIANTI database models. Promising new progress has been made with modelling some of the recent abundance anomaly results in terms of Alven wave-driven separation of neutrals and ions in the upper chromosphere. The problems that existing models have is that they cannot simultaneously explain the low-FIP enhanced solar-like coronae and the high-FIP rich active coronae of RS CVn-like stars. The Alven wave model shows promise with both of these scenarios, with the fractionation or suppression of low-FIP ions depending on the characteristics of the chromosphere. This work is currently in the writing up stage. In summary, the work to-date is making good progress in mapping abundance anomalies as a function of spectral type and activity level. We are also making good progress with modelling that we will be able to test with our observational results. With one more year of effort, we'anticipate that the bulk of the work described above can be published, together with outstanding key studies on anomalies among the different active binaries.

Constructivist developmental theory is needed in developmental neuroscience

NASA Astrophysics Data System (ADS)

Arsalidou, Marie; Pascual-Leone, Juan

2016-12-01

Neuroscience techniques provide an open window previously unavailable to the origin of thoughts and actions in children. Developmental cognitive neuroscience is booming, and knowledge from human brain mapping is finding its way into education and pediatric practice. Promises of application in developmental cognitive neuroscience rests however on better theory-guided data interpretation. Massive amounts of neuroimaging data from children are being processed, yet published studies often do not frame their work within developmental models—in detriment, we believe, to progress in this field. Here we describe some core challenges in interpreting the data from developmental cognitive neuroscience, and advocate the use of constructivist developmental theories of human cognition with a neuroscience interpretation.

Isostatic models and isostatic gravity anomalies of the Arabian plate and surroundings

NASA Astrophysics Data System (ADS)

Kaban, Mikhail K.; El Khrepy, Sami; Al-Arifi, Nassir

2015-04-01

Isostaic anomalies represent one of the most useful "geological" reduction of the gravity field. With the isostatic correction it is possible to remove a significant part of the effect of deep density heterogeneity, which dominates in the Bouguer gravity anomalies. This correction is based on the fact that a major part of the near-surface load is compensated by variations of the lithosphere boundaries (chiefly the Moho and LAB) and by density variations within the crust and upper mantle. It is usually supposed that it is less important to a first order, what is the actual compensation model when reducing the effect of compensating masses, since their total weight is exactly opposite to the near-surface load. We compare several compensating models for the Arabian plate and surrounding area. The Airy model gives very significant regional isostatic anomalies, which can not be explained by the upper crust structure or disturbances of the isostatic equilibrium. Also the predicted "isostatic" Moho is very different from the existing observations. The second group of the isostatic models includes the Moho, which is based on existing seismic determinations. Additional compensation is provided by density variations within the lithosphere (chiefly in the upper mantle). In this way we minimize regional anomalies over the Arabian plate. The residual local anomalies well correspond to tectonic structure of the plate. Still very significant anomalies are associated with the Zagros fold belt, the collision zone of the Arabian and Eurasian plates.

Flux-ratio anomalies from discs and other baryonic structures in the Illustris simulation

NASA Astrophysics Data System (ADS)

Hsueh, Jen-Wei; Despali, Giulia; Vegetti, Simona; Xu, Dandan; Fassnacht, Christopher D.; Metcalf, R. Benton

2018-04-01

The flux ratios in the multiple images of gravitationally lensed quasars can provide evidence for dark matter substructure in the halo of the lensing galaxy if the flux ratios differ from those predicted by a smooth model of the lensing galaxy mass distribution. However, it is also possible that baryonic structures in the lensing galaxy, such as edge-on discs, can produce flux-ratio anomalies. In this work, we present the first statistical analysis of flux-ratio anomalies due to baryons from a numerical simulation perspective. We select galaxies with various morphological types in the Illustris simulation and ray trace through the simulated haloes, which include baryons in the main lensing galaxies but exclude any substructures, in order to explore the pure baryonic effects. Our ray-tracing results show that the baryonic components can be a major contribution to the flux-ratio anomalies in lensed quasars and that edge-on disc lenses induce the strongest anomalies. We find that the baryonic components increase the probability of finding high flux-ratio anomalies in the early-type lenses by about 8 per cent and by about 10-20 per cent in the disc lenses. The baryonic effects also induce astrometric anomalies in 13 per cent of the mock lenses. Our results indicate that the morphology of the lens galaxy becomes important in the analysis of flux-ratio anomalies when considering the effect of baryons, and that the presence of baryons may also partially explain the discrepancy between the observed (high) anomaly frequency and what is expected due to the presence of subhaloes as predicted by the cold dark matter simulations.

Illustrated field guide for assessing external and internal anomalies in fish

USGS Publications Warehouse

Smith, Stephen B.; Donahue, Anne P.; Lipkin, Robin J.; Blazer, Vicki; Schmitt, Christopher J.; Goede, Ronald W.

2002-01-01

Procedures are described for processing fish for examination of external and internal anomalies and pathologies indicative of exposure to environmental contaminants and other peturbations. For the procedures described here, fish are captured (preferably by electrofishing) and held alive until processing (generally < 1 h). Fish are weighed, measured, and necropsied, and a scale sample is obtained from for age determination. Information is given for the collection and preservation of tissue samples for histopathological analysis. Photographs of most abnormalities are included along with normal conditions for easier identification of external (oral, head, eye, gill, opercula, and fin) and internal (liver, spleen, gonad, and kidney) anomalies. The report also includes recommendations for record keeping, sample labeling, and shipping records, equipment, supplies,and samples. A list of suggested equipment and supplies for field processing is included as are instructions for cleaning equipment.

Dental anomalies in primary dentition and their corresponding permanent teeth.

PubMed

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.

Whole exome sequence analysis of Peters anomaly

PubMed Central

Weh, Eric; Reis, Linda M.; Happ, Hannah C.; Levin, Alex V.; Wheeler, Patricia G.; David, Karen L.; Carney, Erin; Angle, Brad; Hauser, Natalie

2015-01-01

Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the frst study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly. PMID:25182519

Reproductive success, developmental anomalies and environmental contaminants in double-crested cormorants (Phalacrocorax auritus)

USGS Publications Warehouse

Larson, J.M.; Karasov, W.H.; Sileo, L.; Stromborg, K.L.; Hanbidge, B.A.; Giesy, J.P.; Jones, P.D.; Tillitt, D.E.; Verbrugge, D.A.

1996-01-01

To test an association between environmental contaminants and the prevalence of congenital anomalies in colonial waterbirds, we collected representative eggs for chemical analysis from double-crested cormorant nests at colonies in Lake Michigan, Wisconsin, USA, and Lake Winnipegosis, Manitoba, Canada, and periodically revisited the nests to determine the hatching success, survivorship of hatchlings, and number of deformed hatchlings in the remainder of each clutch. Total concentrations of polychlorinated biphenyls (PCBs) in eggs were determined by capillary gas chromatography. The combined activity of planar chlorinated hydrocarbons (PCHs) in the eggs was measured in an in vitro bioassay based on the induction of ethoxyresorufin-O-deethylase (EROD) activity in rat hepatoma cells. The combined EROD induction activity was expressed as 2,3,7,8-tetrachlorodibenzo-p-dioxin equivalents (TCDD-EQ). Total concentrations of PCBs and TCDD-EQ were seven to eight times greater in eggs from Lake Michigan (7.8 μg/g and 138 pg/g, respectively) than in those from Lake Winnipegosis (1.0 μg/g and 19 pg/g, respectively). The proportion of eggs hatching at the Lake Michigan colony (59%) was less (p < 0.05) than at Lake Winnipegosis (70%), and the prevalence of hatchlings with deformed bills was greater (p < 0.001) at Lake Michigan (0.79 vs. 0.06%). However, within the Lake Michigan colony, concentrations of PCBs and TCDD-EQ were not correlated with either hatching success or the occurrence of deformities in nestlings.

TERRA Battery Thermal Control Anomaly - Simulation and Corrective Actions

NASA Technical Reports Server (NTRS)

Grob, Eric W.

2010-01-01

The TERRA spacecraft was launched in December 1999 from Vandenberg Air Force Base, becoming the flagship of NASA's Earth Observing System program to gather data on how the planet's processes create climate. Originally planned as a 5 year mission, it still provides valuable science data after nearly 10 years on orbit. On October 13th, 2009 at 16:23z following a routine inclination maneuver, TERRA experienced a battery cell failure and a simultaneous failure of several battery heater control circuits used to maintain cell temperatures and gradients within the battery. With several cells nearing the minimum survival temperature, preventing the electrolyte from freezing was the first priority. After several reset attempts and power cycling of the control electronics failed to reestablish control authority on the primary side of the controller, it was switched to the redundant side, but anomalous performance again prevented full heater control of the battery cells. As the investigation into the cause of the anomaly and corrective action continued, a battery thermal model was developed to be used in determining the control ability remaining and to simulate and assess corrective actions. Although no thermal model or detailed reference data of the battery was available, sufficient information was found to allow a simplified model to be constructed, correlated against pre-anomaly telemetry, and used to simulate the thermal behavior at several points after the anomaly. It was then used to simulate subsequent corrective actions to assess their impact on cell temperatures. This paper describes the rapid development of this thermal model, including correlation to flight data before and after the anomaly., along with a comparative assessment of the analysis results used to interpret the telemetry to determine the extent of damage to the thermal control hardware, with near-term corrective actions and long-term operations plan to overcome the anomaly.

A sonographic approach to prenatal classification of congenital spine anomalies

PubMed Central

Robertson, Meiri; Sia, Sock Bee

2015-01-01

Abstract Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound. PMID:28191204

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

PubMed

Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

2015-01-01

The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

Impacts of the IOD-associated temperature and salinity anomalies on the intermittent equatorial undercurrent anomalies

NASA Astrophysics Data System (ADS)

Li, Junde; Liang, Chujin; Tang, Youmin; Liu, Xiaohui; Lian, Tao; Shen, Zheqi; Li, Xiaojing

2017-11-01

The study of Equatorial Undercurrent (EUC) has attracted a broad attention in recent years due to its strong response and feedback to the Indian Ocean Dipole. In this paper, we first produce a high-quality simulation of three-dimensional temperature, salinity and zonal current simulation from 1982 to 2014, using a high-resolution ocean general circulation model. On this basis, with two sensitivity experiments, we investigate the role of temperature and salinity anomalies in driving and enhancing the EUC during the positive IOD events by examining the variation of the EUC seasonal cycle and diagnosing the zonal momentum budget along the equatorial Indian Ocean. Our results show that during January-March, the EUC can appear along the entire equatorial Indian Ocean in all years, but during August-November, the EUC can appear and reach the eastern Indian Ocean only during the positive IOD events. The zonal momentum budget analysis indicates that the pressure gradient force contributes most to the variation of the eastward acceleration of zonal currents in the subsurface. During the positive IOD events, strong negative subsurface temperature anomalies exist in the eastern Indian Ocean, with negative surface salinity anomalies in the central and eastern Indian Ocean, resulting in a large pressure gradient force to drive EUC during the August-November. Further, the results of two sensitivity experiments indicate that the temperature anomalies significantly impact the pressure gradient force, playing a leading role in driving the EUC, while the surface salinity anomalies can secondarily help to intensify the eastward EUC through increasing the zonal density gradient in the eastern Indian Ocean and impacting the vertical momentum advection in the subsurface.

Road Traffic Anomaly Detection via Collaborative Path Inference from GPS Snippets

PubMed Central

Wang, Hongtao; Wen, Hui; Yi, Feng; Zhu, Hongsong; Sun, Limin

2017-01-01

Road traffic anomaly denotes a road segment that is anomalous in terms of traffic flow of vehicles. Detecting road traffic anomalies from GPS (Global Position System) snippets data is becoming critical in urban computing since they often suggest underlying events. However, the noisy and sparse nature of GPS snippets data have ushered multiple problems, which have prompted the detection of road traffic anomalies to be very challenging. To address these issues, we propose a two-stage solution which consists of two components: a Collaborative Path Inference (CPI) model and a Road Anomaly Test (RAT) model. CPI model performs path inference incorporating both static and dynamic features into a Conditional Random Field (CRF). Dynamic context features are learned collaboratively from large GPS snippets via a tensor decomposition technique. Then RAT calculates the anomalous degree for each road segment from the inferred fine-grained trajectories in given time intervals. We evaluated our method using a large scale real world dataset, which includes one-month GPS location data from more than eight thousand taxicabs in Beijing. The evaluation results show the advantages of our method beyond other baseline techniques. PMID:28282948

The south-central United States magnetic anomaly

NASA Technical Reports Server (NTRS)

Hinze, W. J.; Braile, L. W. (Principal Investigator); Starich, P. J.

1984-01-01

The South-Central United States Magnetic Anomaly is the most prominent positive feature in the MAGSAT scalar magnetic field over North America. The anomaly correlates with increased crustal thickness, above average crustal velocity, negative free air gravity anomalies and an extensive zone of Middle Proterozoic anorogenic felsic basement rocks. Spherical dipole source inversion of the MAGSAT scalar data and subsequent calculation of reduced to pole and derivative maps provide constraints for a crustal magnetic model which corresponds geographically to the extensive Middle Proterozoic felsic rocks trending northeasterly across the United States. These felsic rocks contain insufficient magnetization or volume to produce the anomaly, but are rather indicative of a crustal zone which was disturbed during a Middle Proterozoic thermal event which enriched magnetic material deep in the crust.

Developmental Cognitive Neuroscience: Origins, Issues, and Prospects

ERIC Educational Resources Information Center

Pennington, Bruce F.; Snyder, Kelly A.; Roberts, Ralph J., Jr.

2007-01-01

This commentary explains how the field of developmental cognitive neuroscience (DCN) holds the promise of a much wider interdisciplinary integration across sciences concerned with development: psychology, molecular genetics, neurobiology, and evolutionary developmental biology. First we present a brief history of DCN, including the key theoretical…

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

PubMed Central

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

2011-01-01

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

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

PubMed

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

2011-08-01

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

Ionospheric winter anomaly and annual anomaly observed from Formosat-3/COSMIC Radio Occultation observations during the ascending phase of solar cycle 24

NASA Astrophysics Data System (ADS)

Sai Gowtam, V.; Tulasi Ram, S.

2017-10-01

Ionospheric winter and annual anomalies have been investigated during the ascending phase of solar cycle 24 using high-resolution global 3D - data of the FORMOSAT - 3/COSMIC (Formosa satellite - 3/Constellation Observing System for Meterology, Ionosphere and Climate) radio occultation observations. Our detailed analysis shows that the occurrence of winter anomaly at low-latitudes is confined only to the early morning to afternoon hours, whereas, the winter anomaly at mid-latitudes is almost absent at all local times during the ascending phase of solar cycle 24. Further, in the topside ionosphere (altitudes of 400 km and above), the winter anomaly is completely absent at all local times. In contrast, the ionospheric annual anomaly is consistently observed at all local times and altitudes during this ascending phase of solar cycle 24. The annual anomaly exhibits strong enhancements over southern EIA crest latitudes during day time and around Weddle Sea Anomaly (WSA) region during night times. The global mean annual asymmetry index is also computed to understand the altitudinal variation. The global mean AI maximizes around 300-500 km altitudes during the low solar active periods (2008-10), whereas it extends up to 600 km during moderate to high (2011) solar activity period. These findings from our study provide new insights to the current understanding of the annual anomaly.

Developing an automatic classification system of vegetation anomalies for early warning with the ASAP (Anomaly hot Spots of Agricultural Production) system

NASA Astrophysics Data System (ADS)

Meroni, M.; Rembold, F.; Urbano, F.; Lemoine, G.

2016-12-01

Anomaly maps and time profiles of remote sensing derived indicators relevant to monitor crop and vegetation stress can be accessed online thanks to a rapidly growing number of web based portals. However, timely and systematic global analysis and coherent interpretation of such information, as it is needed for example for SDG 2 related monitoring, remains challenging. With the ASAP system (Anomaly hot Spots of Agricultural Production) we propose a two-step analysis to provide monthly warning of production deficits in water-limited agriculture worldwide. The first step is fully automated and aims at classifying each administrative unit (1st sub-national level) into a number of possible warning levels, ranging from "none" to "watch" and up to "extended alarm". The second step involves the verification of the automatic warnings and integration into a short national level analysis by agricultural analysts. In this paper we describe the methodological development of the automatic vegetation anomaly classification system. Warnings are triggered only during the crop growing season, defined by a remote sensing based phenology. The classification takes into consideration the fraction of the agricultural and rangelands area for each administrative unit that is affected by a severe anomaly of two rainfall-based indicators (the Standardized Precipitation Index (SPI), computed at 1 and 3-month scale) and one biophysical indicator (the cumulative NDVI from the start of the growing season). The severity of the warning thus depends on the timing, the nature and the number of indicators for which an anomaly is detected. The prototype system is using global NDVI images of the METOP sensor, while a second version is being developed based on 1km Modis NDVI with temporal smoothing and near real time filtering. Also a specific water balance model is under development to include agriculture water stress information in addition to the SPI. The monthly warning classification and crop

Minor Physical Anomalies as a Window into the Prenatal Origins of Pedophilia.

PubMed

Dyshniku, Fiona; Murray, Michelle E; Fazio, Rachel L; Lykins, Amy D; Cantor, James M

2015-11-01

Evidence is steadily accumulating to support a neurodevelopmental basis for pedophilia. This includes increased incidence of non-right-handedness, which is a result primarily of prenatal neural development and solidified very early in life. Minor physical anomalies (MPAs; superficial deviations from typical morphological development, such as un-detached earlobes) also develop only prenatally, suggesting them as another potential marker of atypical physiological development during the prenatal period among pedophiles. This study administered the Waldrop Physical Anomaly Scale to assess the prevalence of MPAs in a clinical sample of men referred for assessment following a sexual assault, or another illegal or clinically significant sexual behavior. Significant associations emerged between MPA indices and indicators of pedophilia, including penile responses to depictions of children, number of child victims, and possession of child pornography. Moreover, greater sexual attraction to children was associated with an elevated craniofacial-to-peripheral anomalies ratio. The overall sample demonstrated a greater number of MPAs relative to prior samples of individuals with schizophrenia as well as to healthy controls.

The impact of ENSO on regional chlorophyll-a anomaly in the Arafura Sea

NASA Astrophysics Data System (ADS)

Dewi, D. M. P. R.; Fatmasari, D.; Kurniawan, A.; Munandar, M. A.

2018-03-01

The El Niño-Southern Oscillation (ENSO) is a naturally occurring phenomenon that involves fluctuating ocean temperature in the equatorial Pacific. ENSO influences ocean climate variability in Indonesia including the Arafura Sea. The relationship between oceanic chlorophyll-a and ENSO has been the focus of study over the past decade. Here we examine the impact of ENSO on regional chlorophyll-a anomaly in the Papua waters using 14 years of chlorophyll-a and sea surface temperature (SST) data from AQUA MODIS and sea level anomaly data from AVISO. It is found that when El Niño events occur the negative SST anomaly in the Papua waters as well as the enhanced upwelling cause the increase of chlorophyll-a concentration. The highest chlorophyll-a concentration (> 1 mg–cm-3) occured during El Niño and observed around the Aru archipelago. In contrast during La Niña event, the positive SST anomaly in Papua waters and the suppressed upwelling cause the decrease of chlorophyll-a concentration. Our results suggest that during El Niño (La Niña), the enhanced (suppressed) upwelling related to the significant decreasing (increasing) of sea level anomaly.

[Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

PubMed

Šípek, Antonín; Gregor, Vladimír; Horáček, Jiří; Šípek, Antonín; Langhammer, Pavel

2013-09-01

Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome. Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the

An Unsupervised Deep Hyperspectral Anomaly Detector

PubMed Central

Ma, Ning; Peng, Yu; Wang, Shaojun

2018-01-01

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). PMID:29495410

Electromagnetic duality and entanglement anomalies

NASA Astrophysics Data System (ADS)

Donnelly, William; Michel, Ben; Wall, Aron C.

2017-08-01

Duality is an indispensable tool for describing the strong-coupling dynamics of gauge theories. However, its actual realization is often quite subtle: quantities such as the partition function can transform covariantly, with degrees of freedom rearranged in a nonlocal fashion. We study this phenomenon in the context of the electromagnetic duality of Abelian p -forms. A careful calculation of the duality anomaly on an arbitrary D -dimensional manifold shows that the effective actions agree exactly in odd D , while in even D they differ by a term proportional to the Euler number. Despite this anomaly, the trace of the stress tensor agrees between the dual theories. We also compute the change in the vacuum entanglement entropy under duality, relating this entanglement anomaly to the duality of an "edge mode" theory in two fewer dimensions. Previous work on this subject has led to conflicting results; we explain and resolve these discrepancies.

Anomaly General Circulation Models.

NASA Astrophysics Data System (ADS)

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

Congenital anomalies of the limbs in mythology and antiquity.

PubMed

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.

Domain Anomaly Detection in Machine Perception: A System Architecture and Taxonomy.

PubMed

Kittler, Josef; Christmas, William; de Campos, Teófilo; Windridge, David; Yan, Fei; Illingworth, John; Osman, Magda

2014-05-01

We address the problem of anomaly detection in machine perception. The concept of domain anomaly is introduced as distinct from the conventional notion of anomaly used in the literature. We propose a unified framework for anomaly detection which exposes the multifaceted nature of anomalies and suggest effective mechanisms for identifying and distinguishing each facet as instruments for domain anomaly detection. The framework draws on the Bayesian probabilistic reasoning apparatus which clearly defines concepts such as outlier, noise, distribution drift, novelty detection (object, object primitive), rare events, and unexpected events. Based on these concepts we provide a taxonomy of domain anomaly events. One of the mechanisms helping to pinpoint the nature of anomaly is based on detecting incongruence between contextual and noncontextual sensor(y) data interpretation. The proposed methodology has wide applicability. It underpins in a unified way the anomaly detection applications found in the literature. To illustrate some of its distinguishing features, in here the domain anomaly detection methodology is applied to the problem of anomaly detection for a video annotation system.

Barium and neodymium isotopic anomalies in the Allende meteorite

NASA Technical Reports Server (NTRS)

Mcculloch, M. T.; Wasserburg, G. J.

1978-01-01

The discovery of Ba and Nd isotopic anomalies in two inclusions from the Allende meteorite is reported. The inclusions are Ca-Al-rich objects typical of the type considered as high-temperature condensation products in the solar nebula and contain distinctive Mg and O isotopic anomalies of the FUN (mass Fractionation, Unknown Nuclear processes) type. Mass-spectrometry results are discussed which show that inclusion C1 has anomalies in Ba at masses 134 and 136, while inclusion EK1-4-1 exhibits large marked negative anomalies at 130, 132, 134, and 136, as well as a positive anomaly at 137. It is also found that inclusion EK1-4-1 shows marked negative anomalies in Nd at masses 142, 146, 148, and 150, in addition to a positive anomaly at 145. These isotopic shifts are attributed to addition of r-process nuclei rather than mass fractionation. It is suggested that an onion-shell supernova explosion followed by injection into the solar nebula is the most likely generic model that may explain the observations.

Gravity Anomalies in the Northern Hawaiian Islands: Evidence for an Alternative Magma Chamber on Kauai and a Conjoined Niihau-Kauai Island

NASA Astrophysics Data System (ADS)

Flinders, A. F.; Ito, G.; Garcia, M.; Kim, S.; Appelgate, B.

2008-12-01

The shield stage evolution of the islands of Kauai and Niihau are poorly understood. Previous land-based gravity surveys provide only a coarse constraint on the observed gravitational field. Questions as to whether the island of Kauai was formed by a single or multiple shields and the developmental relationship between these neighboring islands are still debated. Our new land-based gravity survey of Kauai and ship-board gravity surveys around both islands identified large complete Bouguer gravitational anomalies under Kauai's Lihue Basin and offshore in the Kaulakahi Channel, a 30-km-long bathymetric ridge connecting the two islands. These gravitational highs are consistent in size and magnitude with those of other Hawaiian islands and imply local zones of high density crust, most likely attributed to magmatic intrusions; e.g. former magma chambers, or rift zones. The Lihue Basin anomaly observed is offset 20 km east from the geologically mapped caldera region. This offset implies either the unlikely case that the shield stage plumbing system connecting the magma chamber and caldera could have been inclined by up to 75 degrees from the vertical, or that the currently mapped caldera is a late feature, unrelated to shield volcanism. The location of the gravitational anomaly, in the Kaulakahi Channel, 20 km east of Niihau is consistent with geologic mapping, which indicates that Niihau is a remnant of an ancient shield volcano centered east of the island. The proximity of the Niihau gravitational anomaly 10 km from the western edge of Kauai supports the hypothesis that the two volcanoes were part of the same island.

The emergence of psychopathy: implications for the neuropsychological approach to developmental disorders.

PubMed

Blair, R J R

2006-09-01

In this paper, I am going to examine the disorder of psychopathy and consider how genetic anomalies could give rise to the relatively specific neuro-cognitive impairments seen in individuals with this disorder. I will argue that genetic anomalies in psychopathy reduce the salience of punishment information (perhaps as a function of noradrenergic disturbance). I will argue that the ability of the amygdala to form the stimulus-punishment associations necessary for successful socialization is disrupted and that because of this, individuals with psychopathy do not learn to avoid actions that will harm others. It is noted that this model follows the neuropsychological approach to the study of developmental disorders, an approach that has been recently criticized. I will argue that these criticisms are less applicable to psychopathy. Indeed, animal work on the development of the neural systems necessary for emotion, does not support a constructivist approach with respect to affect. Importantly, such work indicates that while environmental effects can alter the responsiveness of the basic neural architecture mediating emotion, environmental effects do not construct this architecture. However, caveats to the neuropsychological approach with reference to this disorder are noted.

Exploring Urban Literacy & Developmental Education. CRDEUL Monograph.

ERIC Educational Resources Information Center

Lundell, Dana Britt, Ed.; Higbee, Jeanne L., Ed.

This collection of papers includes: "Introduction: Why Should We Discuss 'Urban Literacy' in Developmental Education?" (Dana Britt Lundell and Jeanne L. Higbee); "History of the Center for Research on Developmental Education and Urban Literacy: 1996-2002" (Dana Britt Lundell); "The Traveling City: The Hudson's Store, Urban…

Pathogenesis of developmental anomalies of the central nervous system induced by congenital cytomegalovirus infection.

PubMed

Kawasaki, Hideya; Kosugi, Isao; Meguro, Shiori; Iwashita, Toshihide

2017-02-01

In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection. After initial infection, CMV disrupts BBB structural integrity to facilitate the spread of viral particles into parenchyma. Then, the initial meningitis and vasculitis eventually reaches NSPC-dense areas such as ventricular zone and subventricular zone, where viral infection inhibits NSPC proliferation and differentiation and results in neuronal cell loss. These cellular events clinically manifest as brain malformations such as a microcephaly. The purpose of this review is to clearly delineate the pathophysiological basis of congenital CNS anomalies caused by CMV. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

Disparity : scalable anomaly detection for clusters.

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

Desai, N.; Bradshaw, R.; Lusk, E.

2008-01-01

In this paper, we describe disparity, a tool that does parallel, scalable anomaly detection for clusters. Disparity uses basic statistical methods and scalable reduction operations to perform data reduction on client nodes and uses these results to locate node anomalies. We discuss the implementation of disparity and present results of its use on a SiCortex SC5832 system.

Simultaneous Surgical Treatment of Congenital Spinal Deformity Associated with Intraspinal Anomalies.

PubMed

Singrakhia, Manoj; Malewar, Nikhil; Deshmukh, Sonal; Deshmukh, Shivaji

2018-06-01

Prospective case series. To study the safety, efficacy, and long-term outcomes of single-stage surgical intervention for congenital spinal deformity and intraspinal anomalies. Congenital spinal deformities associated with intraspinal anomalies are usually treated sequentially, first by treating the intraspinal anomalies followed by deformity correction after a period of 3-6 months. Recently, a single-stage approach has been reported to show better postoperative results and reduced complication rates. Thirty patients (23 females and seven males) were prospectively evaluated for the simultaneous surgical treatment of congenital spinal deformity with concurrent intraspinal anomalies from May 2006 to October 2016. The average age at presentation was 9.8±3.7 years, with the average follow-up duration being 49.06±8.6 months. Clinical records were evaluated for clinical, radiological, perioperative, and postoperative data. The average angle of deformity was 56.53°±25.22° preoperatively, 21.13°±14.34° postoperatively, and 23.93°±14.99° at the final follow-up. The average surgical time was 232.58±53.56 minutes (range, 100-330 minutes), with a mean blood loss of 1,587.09±439.09 mL (range, 100-2,300 mL). Single stage surgical intervention for intraspinal anomalies with congenital spinal deformity correction, including adequate intra-operative wake-up test, is a viable option in appropriately selected patients and has minimum complication rates.

Identifying Anomalies in Gravitational Lens Time Delays

NASA Astrophysics Data System (ADS)

Congdon, Arthur B.; Keeton, Charles R.; Nordgren, C. Erik

2010-02-01

We examine the ability of gravitational lens time delays to reveal complex structure in lens potentials. In a previous paper, we predicted how the time delay between the bright pair of images in a "fold" lens scales with the image separation, for smooth lens potentials. Here we show that the proportionality constant increases with the quadrupole moment of the lens potential, and depends only weakly on the position of the source along the caustic. We use Monte Carlo simulations to determine the range of time delays that can be produced by realistic smooth lens models consisting of isothermal ellipsoid galaxies with tidal shear. We can then identify outliers as "time delay anomalies." We find evidence for anomalies in close image pairs in the cusp lenses RX J1131 - 1231 and B1422+231. The anomalies in RX J1131 - 1231 provide strong evidence for substructure in the lens potential, while at this point the apparent anomalies in B1422+231 mainly indicate that the time delay measurements need to be improved. We also find evidence for time delay anomalies in larger-separation image pairs in the fold lenses, B1608+656 and WFI 2033 - 4723, and the cusp lens RX J0911+0551. We suggest that these anomalies are caused by some combination of substructure and a complex lens environment. Finally, to assist future monitoring campaigns we use our smooth models with shear to predict the time delays for all known four-image lenses.

[Surgical treatment of first branchial cleft anomaly].

PubMed

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.

Congenital anomalies of the breast.

PubMed

Caouette-Laberge, Louise; Borsuk, Daniel

2013-02-01

Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breast anomalies include supernumerary nipple and areola (polythelia) and breast (polymastia), which can generally be found on the embryonic mammary ridge. Absence of the nipple, areola (athelia), or the breast tissue (amastia) is less frequent.

Congenital Anomalies of the Breast

PubMed Central

Caouette-Laberge, Louise; Borsuk, Daniel

2013-01-01

Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breast anomalies include supernumerary nipple and areola (polythelia) and breast (polymastia), which can generally be found on the embryonic mammary ridge. Absence of the nipple, areola (athelia), or the breast tissue (amastia) is less frequent. PMID:24872738

Paleo-Pole Positions from Martian Magnetic Anomaly Data

NASA Technical Reports Server (NTRS)

Taylor, Patrick T.; Frawley, James J.

2003-01-01

Magnetic component anomaly maps were made from five mapping cycles of the Mars Global Surveyor s magnetometer data. Our goal was to find and isolate positive and negative anomaly pairs which would indicate magnetization of a single source body. From these anomalies we could compute the direction of the magnetizing vector and subsequently the location of the magnetic pole existing at the time of magnetization. We found nine suitable anomaly pairs and from these we computed four North and 3 South poles with two at approximately 60 degrees north latitude. These results suggest that during the existence of the Martian main magnetic field it experienced several reversals.

Paleo-Pole Positions from Martian Magnetic Anomaly Data

NASA Technical Reports Server (NTRS)

Frawley, James J.; Taylor, Patrick T.

2004-01-01

Magnetic component anomaly maps were made from five mapping cycles of the Mars Global Surveyor's magnetometer data. Our goal was to find and isolate positive and negative anomaly pairs which would indicate magnetization of a single source body. From these anomalies we could compute the direction of the magnetizing vector and subsequently the location of the magnetic pole existing at the time of magnetization. We found nine suitable anomaly pairs and from these we computed paleo-poles that were nearly equally divided between north, south and mid-latitudes. These results suggest that during the existence of the martian main magnetic field it experienced several reversals and excursions.

Forward Modelling of Long-wavelength Magnetic Anomaly Contributions from the Upper Mantle

NASA Astrophysics Data System (ADS)

Idoko, C. M.; Conder, J. A.; Ferre, E. C.; Friedman, S. A.

2016-12-01

Towards the interpretation of the upcoming results from SWARM satellite survey, we develop a MATLAB-based geophysical forward-modeling of magnetic anomalies from tectonic regions with different upper mantle geotherms including subduction zones (Kamchaka island arcs), cratons (Siberian craton), and hotspots (Hawaii hotspots and Massif-central plumes). We constrain the modeling - using magnetic data measured from xenoliths collected across these regions. Over the years, the potency of the upper mantle in contributing to long-wavelength magnetic anomalies has been a topic of debate among geoscientists. However, recent works show that some low geotherm tectonic environments such as forearcs and cratons contain mantle xenoliths which are below the Curie-Temperature of magnetite and could potentially contribute to long-wavelength magnetic anomalies. The modeling pursued here holds the prospect of better understanding the magnetism of the upper mantle, and the resolution of the mismatch between observed long-wavelength anomalies and surface field anomaly upward continued to satellite altitude. The SWARM satellite survey provides a unique opportunity due to its capacity to detect more accurately the depth of magnetic sources. A preliminary model of a hypothetical craton of size 2000km by 1000km by 500km discretized into 32 equal and uniformly distributed prism blocks, using magnetic data from Siberian craton with average natural remanent magnetization value of 0.0829 A/m (randomnly oriented) for a magnetized mantle thickness of 75km, and induced magnetization, varying according to the Curie-Weiss law from surface to 500km depth with an average magnetization of 0.02 A/m, shows that the contributions of the induced and remanent phases of magnetizations- with a total-field anomaly amplitude of 3 nT may impart a measurable signal to the observed long-wavelength magnetic anomalies in low geotherm tectonic environments.

Regional magnetic anomaly constraints on continental breakup

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

von Frese, R.R.B.; Hinze, W.J.; Olivier, R.

1986-01-01

Continental lithosphere magnetic anomalies mapped by the Magsat satellite are related to tectonic features associated with regional compositional variations of the crust and upper mantle and crustal thickness and thermal perturbations. These continental-scale anomaly patterns when corrected for varying observation elevation and the global change in the direction and intensity of the geomagnetic field show remarkable correlation of regional lithospheric magnetic sources across rifted continental margins when plotted on a reconstruction of Pangea. Accordingly, these anomalies provide new and fundamental constraints on the geologic evolution and dynamics of the continents and oceans.