What the Neurosurgeon needs to know about Cerebral Developmental Venous anomalies

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Alvis-Miranda Hernando Raphael

2014-06-01

Full Text Available Venous Angiomas or Developmental venous anomalies (DVA are extreme variations of normal transmedullary veins that are necessary for the drainage of white and gray matter, also are one type of cerebrovascular malformation (CVM, sharing category with capillary telangiectesias, cavernous malformations (CM, and arteriovenous malformations (AVM, each of which may also be associated with a DVA. DVA are the most commonly encountered CVM, accounting for up to 60% of all CVM. We present a review of the literatura

Venous infraction of developmental venous anomaly: A case report with perfusion imaging

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Kim, Jung Youn; Kim, Hye Jeong; Hyun, Su Jeong; Kim, Hee Yeong; Kim, Han Myun; Hwang, Ji Young; Hong, Hye Suk; Woo, Ji Young; Yang, Ik [Dept. of Radiology, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul (Korea, Republic of); Kim, Eun Soo [Dept. of Radiology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang (Korea, Republic of)

2017-06-15

Developmental venous anomaly (DVA) is a common congenital venous malformation characterized by dilated medullary veins in caput medusa configuration and a draining vein. Despite the high incidence of DVAs, they are benign anatomic variations and rarely cause symptoms. Here, we report computed tomography and magnetic resonance imaging findings with perfusion images of acute infarction from underlying DVA in a 63-year-old female patient who presented with acute onset of neurologic symptoms and recovered without any neurologic deficit.

Evaluation of developmental dental anomalies in digital panoramic radiographs in Southeast Iranian Population.

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Saberi, Eshagh Ali; Ebrahimipour, Sediqe

2016-01-01

The objective of this study was to evaluate the prevalence of dental developmental anomalies in digital panoramic radiographs of the patients referred to the Zahedan medical imaging center and to evaluate the frequency of anomalies regarding the disorders in shape, position and number in the Southeast of Iran. A total of 1172 panoramic radiographs from 581 males and 586 females aged over 16 years were obtained from the files of the Zahedan medical imaging center between the years of 2014 and 2015. The selected radiographs were evaluated in terms of the anomalies such as dilacerations, taurodontism, supernumerary teeth, congenitally missing teeth, fusion, gemination, tooth impaction, tooth transposition, dens invagination, and peg lateral. Then, the anomalies were compared to each other regarding the frequency of the anomaly type (morphological, positional and numerical). Data were evaluated using descriptive statistics such as frequency and percent, and statistical tests such as X(2) at 0.05 significant level using the Statistical Package for the Social Sciences version 16.5. The prevalence of dental anomaly was 213 (18.17%), which was higher in females (9.90) than male, (8.28), however, this difference was not statistically significant (P > 0.05). The prevalence of dilacerated teeth was 62 (5.29%), taurodontism 63 (5.38%), supernumerary teeth 6 (0.51%), congenitally missing teeth 13 (1.11%), fusion 1 (0.09%), gemination 1 (0.09%), impaction 40 (3.41%), transposition 2 (0.18%), dens invagination 16 (1.37) and peg lateral was 9 (0.77%). The prevalence of morphological anomaly was 152 (71.36%), malposition 42 (19.72%) and numerous anomaly was 19 (8.92%). Dental anomalies are relatively common; although their occurrence is not symptomatic, they can lead to several clinical problems in patients. Detailed clinical and radiographic assessment and counseling during patient visits is a critical factor in assessing the patient's degree of difficulty to help the dentist for

Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

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Herwig, Martina C; Loeffler, Karin U; Gembruch, Ulrich; Kuchelmeister, Klaus; Müller, Annette M

2014-01-01

We report anterior segment abnormalities in both eyes of a 33-week-old fetus endorsing the diagnosis of MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome. After abortion, the fetus was examined by a standard pediatric autopsy that included macroscopic and microscopic examination of both eyes. Postmortem findings included craniofacial stigmata (such as hypertelorism, a flat nose and low-set ears) and an agenesis of the corpus callosum. Array comparative genomic hybridization revealed a deletion of the short arm of the X chromosome (region Xp22.2 to p22.32). Ophthalmopathologic examination of the eyes revealed microphthalmia with anterior segment developmental anomalies, in particular sclerocornea and Peters' anomaly, respectively. General pathology findings plus the ocular findings allowed the diagnosis of MIDAS syndrome. A discussion of differential diagnoses is provided. This case report indicates that ophthalmopathologic investigation of fetal eyes can be of great value for the further classification of syndromes.

The prevalence, pattern and clinical presentation of developmental dental hard-tissue anomalies in children with primary and mix dentition from Ile-Ife, Nigeria.

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Temilola, Dada Oluwaseyi; Folayan, Morenike Oluwatoyin; Fatusi, Olawunmi; Chukwumah, Nneka Maureen; Onyejaka, Nneka; Oziegbe, Elizabeth; Oyedele, Titus; Kolawole, Kikelomo Adebanke; Agbaje, Hakeem

2014-10-16

The study of dental anomalies is important because it generates information that is important for both the anthropological and clinical management of patients. The objective of this study is to determine the prevalence and pattern of presentation of dental hard-tissue developmental anomalies in the mix dentition of children residing in Ile-Ife, a suburban region of Nigeria. Information on age, sex and socioeconomic status was collected from 1,036 children aged four months to 12 years through a household survey. Clinical examination was conducted to assess the presence of dental anomalies. Associations between age, sex, socioeconomic status, prevalence, and pattern of presentation of the developmental hard-tissue dental anomalies were determined. Two hundred and seventy six (26.6%) children had dental anomalies. Of these, 23.8% had one anomaly, 2.5% had two anomalies, and 0.3% had more than two anomalies. Of the children with anomalies, 49.3%were male, 50.7%were female, and 47.8%, 28.6% and 23.6% were children from low, middle and high socioeconomic classes, respectively. More anomalies were seen in permanent than primary dentition. Anomalies of tooth structure were most prevalent (16.1%); anomalies which affect tooth number were least prevalent (1.3%). Dens evaginatus, peg-shaped lateral, macrodontia, and talon cusp were more prevalent in the permanent dentition, and dens evaginatus peg-shaped lateral and macrodontia were more prevalent in the maxilla. There were significantly more macrodontia anomalies in males and in children of high socioeconomic status. This large survey of dental hard-tissue anomalies found in the primary dentition and mixed dentition of children in Nigeria provides anthropological and clinical data that may aid the detection and management of dental problems of children in Nigeria.

Nonsyndromic tooth agenesis patterns and associated developmental dental anomalies: a literature review with radiographic illustrations.

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Agarwal, P; Vinuth, D P; Dube, G; Dube, P

2013-01-01

Tooth agenesis is one of the most intriguing phenomena, because it is frequently associated with other oral anomalies, structural variations and malformations of other teeth, late eruption, transposition and crowding. The diagnosis can be quite challenging as radiographic examination is critical for the diagnosis but not always possible and the late developing teeth may be sometimes scored developmentally missing. Accurate diagnosis therefore requires radiographic, clinical, and dental cast examinations. It is an important clinical and public health problem. Patients with missing permanent teeth may suffer from a reduced chewing ability, inarticulate pronunciation, and an unfavorable aesthetic appearance. Clinically, early diagnosis of a dental anomaly can alert the clinician to the possible development of other associated dental anomalies in the same patient or family, and avoid the possible sequelae. Understanding of tooth agenesis patterns and their impact on diagnosis, prevention, and eventually therapeutics are becoming integral parts of comprehensive dental care. Dental examination with radiographic screening of hypodontia in early childhood should be emphasized as part of public oral health policy to allow early diagnosis and timely intervention.

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

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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

Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.

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Diogo, Rui; Smith, Christopher M; Ziermann, Janine M

2015-11-01

We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications. © 2015 Wiley Periodicals, Inc.

Dental Anomalies: An Update

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Fatemeh Jahanimoghadam

2016-01-01

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

Bayesian versus politically motivated reasoning in human perception of climate anomalies

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Ripberger, Joseph T.; Jenkins-Smith, Hank C.; Silva, Carol L.; Carlson, Deven E.; Gupta, Kuhika; Carlson, Nina; Dunlap, Riley E.

2017-11-01

In complex systems where humans and nature interact to produce joint outcomes, mitigation, adaptation, and resilience require that humans perceive feedback—signals of health and distress—from natural systems. In many instances, humans readily perceive feedback. In others, feedback is more difficult to perceive, so humans rely on experts, heuristics, biases, and/or identify confirming rationalities that may distort perceptions of feedback. This study explores human perception of feedback from natural systems by testing alternate conceptions about how individuals perceive climate anomalies, a form of feedback from the climate system. Results indicate that individuals generally perceive climate anomalies, especially when the anomalies are relatively extreme and persistent. Moreover, this finding is largely robust to political differences that generate predictable but small biases in feedback perception at extreme ends of the partisan spectrum. The subtlety of these biases bodes well for mitigation, adaptation, and resilience as human systems continue to interact with a changing climate system.

Developmental, nutritional and hormonal anomalies of weightlessness-grown wheat

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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.

The prevalence, pattern and clinical presentation of developmental dental hard-tissue anomalies in children with primary and mix dentition from Ile-Ife, Nigeria

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Temilola, Dada Oluwaseyi; Folayan, Morenike Oluwatoyin; Fatusi, Olawunmi; Chukwumah, Nneka Maureen; Onyejaka, Nneka; Oziegbe, Elizabeth; Oyedele, Titus; Kolawole, Kikelomo Adebanke; Agbaje, Hakeem

2014-01-01

Background The study of dental anomalies is important because it generates information that is important for both the anthropological and clinical management of patients. The objective of this study is to determine the prevalence and pattern of presentation of dental hard-tissue developmental anomalies in the mix dentition of children residing in Ile-Ife, a suburban region of Nigeria. Methods Information on age, sex and socioeconomic status was collected from 1,036 children aged four months t...

Parenchymal abnormalities associated with developmental venous anomalies

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San Millan Ruiz, Diego; Gailloud, Philippe [Johns Hopkins Hospital, Division of Interventional Neuroradiology, Baltimore, MD (United States); Delavelle, Jacqueline [Geneva University Hospital, Neuroradiology Section, Department of Radiology and Medical Informatics, Geneva (Switzerland); Yilmaz, Hasan; Ruefenacht, Daniel A. [Geneva University Hospital, Section of Interventional Neuroradiology, Department of Clinical Neurosciences, Geneva (Switzerland); Piovan, Enrico; Bertramello, Alberto; Pizzini, Francesca [Verona City Hospital, Service of Neuroradiology, Verona (Italy)

2007-12-15

To report a retrospective series of 84 cerebral developmental venous anomalies (DVAs), focusing on associated parenchymal abnormalities within the drainage territory of the DVA. DVAs were identified during routine diagnostic radiological work-up based on magnetic resonance imaging (MRI) (60 cases), computed tomography (CT) (62 cases) or both (36 cases). Regional parenchymal modifications within the drainage territory of the DVA, such as cortical or subcortical atrophy, white matter density or signal alterations, dystrophic calcifications, presence of haemorrhage or a cavernous-like vascular malformation (CVM), were noted. A stenosis of the collecting vein of the DVA was also sought for. Brain abnormalities within the drainage territory of a DVA were encountered in 65.4% of the cases. Locoregional brain atrophy occurred in 29.7% of the cases, followed by white matter lesions in 28.3% of MRI investigations and 19.3% of CT investigations, CVMs in 13.3% of MRI investigations and dystrophic calcification in 9.6% of CT investigations. An intracranial haemorrhage possibly related to a DVA occurred in 2.4% cases, and a stenosis on the collecting vein was documented in 13.1% of cases. Parenchymal abnormalities were identified for all DVA sizes. Brain parenchymal abnormalities were associated with DVAs in close to two thirds of the cases evaluated. These abnormalities are thought to occur secondarily, likely during post-natal life, as a result of chronic venous hypertension. Outflow obstruction, progressive thickening of the walls of the DVA and their morphological organization into a venous convergence zone are thought to contribute to the development of venous hypertension in DVA. (orig.)

Developmental venous anomaly in the newborn brain

International Nuclear Information System (INIS)

Horsch, S.; Govaert, P.; Cowan, F.M.; Benders, M.J.N.L.; Groenendaal, F.; Vries, L.S. de; Lequin, M.H.; Saliou, G.

2014-01-01

Cerebral developmental venous anomaly (DVA) is considered a benign anatomical variant of parenchymal venous drainage; it is the most common vascular malformation seen in the adult brain. Despite its assumed congenital origin, little is known about DVA in the neonatal brain. We report here the first cohort study of 14 neonates with DVA. Fourteen infants (seven preterm) with DVA diagnosed neonatally using cranial ultrasound (cUS) and magnetic resonance imaging (MRI) from three tertiary neonatal units over 14 years are reviewed. DVA was first detected on cUS in 6 and on MRI in 8 of the 14 infants. The cUS appearances of DVA showed a focal fairly uniform area of increased echogenicity, often (86 %) adjacent to the lateral ventricle and located in the frontal lobe (58 %). Blood flow in the dilated collector vein detected by Doppler ultrasound (US) varied between cases (venous flow pattern in ten and arterialized in four). The appearance on conventional MRI was similar to findings in adults. Serial imaging showed a fairly constant appearance to the DVAs in some cases while others varied considerably regarding anatomical extent and flow velocity. This case series underlines that a neonatal diagnosis of DVA is possible with carefully performed cUS and MRI and that DVA tends to be an incidental finding with a diverse spectrum of imaging appearances. Serial imaging suggests that some DVAs undergo dynamic changes during the neonatal period and early infancy; this may contribute to why diagnosis is rare at this age. (orig.)

Developmental venous anomaly in the newborn brain

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Horsch, S. [Erasmus MC-Sophia Children' s Hospital, Department of Neonatology, Rotterdam (Netherlands); Helios Klinikum Berlin-Buch, Department of Neonatology, Berlin (Germany); Govaert, P. [Erasmus MC-Sophia Children' s Hospital, Department of Neonatology, Rotterdam (Netherlands); Cowan, F.M. [Hammersmith Hospital, Department of Paediatrics, Imperial College Healthcare NHS Trust, London (United Kingdom); Benders, M.J.N.L.; Groenendaal, F.; Vries, L.S. de [University Medical Centre Utrecht, Wilhelmina Children' s Hospital, Department of Neonatology, Utrecht (Netherlands); Lequin, M.H. [Erasmus MC/Sophia Children' s Hospital, Department of Paediatric Radiology, Rotterdam (Netherlands); Saliou, G. [University Hospital, Department of Neuroradiology, Le Kremlin-Bicetre (France)

2014-07-15

Cerebral developmental venous anomaly (DVA) is considered a benign anatomical variant of parenchymal venous drainage; it is the most common vascular malformation seen in the adult brain. Despite its assumed congenital origin, little is known about DVA in the neonatal brain. We report here the first cohort study of 14 neonates with DVA. Fourteen infants (seven preterm) with DVA diagnosed neonatally using cranial ultrasound (cUS) and magnetic resonance imaging (MRI) from three tertiary neonatal units over 14 years are reviewed. DVA was first detected on cUS in 6 and on MRI in 8 of the 14 infants. The cUS appearances of DVA showed a focal fairly uniform area of increased echogenicity, often (86 %) adjacent to the lateral ventricle and located in the frontal lobe (58 %). Blood flow in the dilated collector vein detected by Doppler ultrasound (US) varied between cases (venous flow pattern in ten and arterialized in four). The appearance on conventional MRI was similar to findings in adults. Serial imaging showed a fairly constant appearance to the DVAs in some cases while others varied considerably regarding anatomical extent and flow velocity. This case series underlines that a neonatal diagnosis of DVA is possible with carefully performed cUS and MRI and that DVA tends to be an incidental finding with a diverse spectrum of imaging appearances. Serial imaging suggests that some DVAs undergo dynamic changes during the neonatal period and early infancy; this may contribute to why diagnosis is rare at this age. (orig.)

Developmental venous anomalies: appearance on whole-brain CT digital subtraction angiography and CT perfusion

International Nuclear Information System (INIS)

Hanson, Eric H.; Roach, Cayce J.; Ringdahl, Erik N.; Wynn, Brad L.; DeChancie, Sean M.; Mann, Nathan D.; Diamond, Alan S.; Orrison, William W.

2011-01-01

Developmental venous anomalies (DVA) consist of dilated intramedullary veins that converge into a large collecting vein. The appearance of these anomalies was evaluated on whole-brain computed tomography (CT) digital subtraction angiography (DSA) and CT perfusion (CTP) studies. CT data sets of ten anonymized patients were retrospectively analyzed. Five patients had evidence of DVA and five age- and sex-matched controls were without known neurovascular abnormalities. CT angiograms, CT arterial-venous views, 4-D CT DSA and CTP maps were acquired on a dynamic volume imaging protocol on a 320-detector row CT scanner. Whole-brain CTP parameters were evaluated for cerebral blood flow (CBF), cerebral blood volume (CBV), time to peak (TTP), mean transit time (MTT), and delay. DSA was utilized to visualize DVA anatomy. Radiation dose was recorded from the scanner console. Increased CTP values were present in the DVA relative to the unaffected contralateral hemisphere of 48%, 32%, and 26%; and for the control group with matched hemispheric comparisons of 2%, -10%, and 9% for CBF, CBV, and MTT, respectively. Average effective radiation dose was 4.4 mSv. Whole-brain DSA and CTP imaging can demonstrate a characteristic appearance of altered DVA hemodynamic parameters and capture the anomalies in superior cortices of the cerebrum and the cerebellum. Future research may identify the rare subsets of patients at increased risk of adverse outcomes secondary to the altered hemodynamics to facilitate tailored imaging surveillance and application of appropriate preventive therapeutic measures. (orig.)

Developmental venous anomalies: appearance on whole-brain CT digital subtraction angiography and CT perfusion

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Hanson, Eric H. [Advanced Medical Imaging and Genetics (Amigenics), Las Vegas, NV (United States); Touro University Nevada College of Osteopathic Medicine, Henderson, NV (United States); University of Nevada Las Vegas, Department of Health Physics and Diagnostic Sciences, 4505 Maryland Parkway, Box 453037, Las Vegas, NV (United States); Amigenics, Inc, Las Vegas, NV (United States); Roach, Cayce J. [Advanced Medical Imaging and Genetics (Amigenics), Las Vegas, NV (United States); University of Nevada Las Vegas, School of Life Sciences, Las Vegas, NV (United States); Ringdahl, Erik N. [University of Nevada Las Vegas, Department of Psychology, Las Vegas, NV (United States); Wynn, Brad L. [Family Medicine Spokane, Spokane, WA (United States); DeChancie, Sean M.; Mann, Nathan D. [Touro University Nevada College of Osteopathic Medicine, Henderson, NV (United States); Diamond, Alan S. [CHW Nevada Imaging Company, Nevada Imaging Centers, Spring Valley, Las Vegas, NV (United States); Orrison, William W. [Touro University Nevada College of Osteopathic Medicine, Henderson, NV (United States); University of Nevada Las Vegas, Department of Health Physics and Diagnostic Sciences, 4505 Maryland Parkway, Box 453037, Las Vegas, NV (United States); CHW Nevada Imaging Company, Nevada Imaging Centers, Spring Valley, Las Vegas, NV (United States); University of Nevada School of Medicine, Department of Medical Education, Reno, NV (United States)

2011-05-15

Developmental venous anomalies (DVA) consist of dilated intramedullary veins that converge into a large collecting vein. The appearance of these anomalies was evaluated on whole-brain computed tomography (CT) digital subtraction angiography (DSA) and CT perfusion (CTP) studies. CT data sets of ten anonymized patients were retrospectively analyzed. Five patients had evidence of DVA and five age- and sex-matched controls were without known neurovascular abnormalities. CT angiograms, CT arterial-venous views, 4-D CT DSA and CTP maps were acquired on a dynamic volume imaging protocol on a 320-detector row CT scanner. Whole-brain CTP parameters were evaluated for cerebral blood flow (CBF), cerebral blood volume (CBV), time to peak (TTP), mean transit time (MTT), and delay. DSA was utilized to visualize DVA anatomy. Radiation dose was recorded from the scanner console. Increased CTP values were present in the DVA relative to the unaffected contralateral hemisphere of 48%, 32%, and 26%; and for the control group with matched hemispheric comparisons of 2%, -10%, and 9% for CBF, CBV, and MTT, respectively. Average effective radiation dose was 4.4 mSv. Whole-brain DSA and CTP imaging can demonstrate a characteristic appearance of altered DVA hemodynamic parameters and capture the anomalies in superior cortices of the cerebrum and the cerebellum. Future research may identify the rare subsets of patients at increased risk of adverse outcomes secondary to the altered hemodynamics to facilitate tailored imaging surveillance and application of appropriate preventive therapeutic measures. (orig.)

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

Science.gov (United States)

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

1991-12-01

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

Development anomaly and non-vitality: Two case reports

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Sivakumar Kailasam

2012-01-01

Full Text Available 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.

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

Science.gov (United States)

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.

THE PREVALENCE OF DENTAL ANOMALIES IN A TURKISH POPULATION

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Gamze Aren

2015-10-01

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

The prevalence of dental anomalies in a turkish population.

Science.gov (United States)

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

2015-01-01

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

Turtle carapace anomalies: the roles of genetic diversity and environment.

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Guillermo Velo-Antón

2011-04-01

Full Text Available 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.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.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.

Magnetic resonance angiography of cerebral developmental venous anomalies: its role in differential diagnosis

International Nuclear Information System (INIS)

Ostertun, B.; Solymosi, L.

1993-01-01

CT, MRI and contrast angiography of 20 patients with 21 developmental venous anomalies (DVAs), so-called venous angiomas, were compared with magnetic resonance angiography employing a two-dimensional time-of-flight technique (2D-MRA). MRA was diagnostic in 17 DVAs, when both the primary 2D slices and the maximum-intensity-protection images were read. Contrast angiography still provides the best visualization of both DVA components: dilated medullary veins and transcerebral draining vein; however, it is an invasive procedure and delivers no information about brain parenchyma. We regard MRI as necessary in cases with a suspected DVA because of the high rate of association with cavernomas: 33% in this study. Acute neurological symptoms were caused by haemorrhage from an associated cavernoma and not from the DVA in 4 such cases. Thus MRA combined with MRI obviates angiography in most cases and offers a noninvasive diagnostic strategy adequate for DVAs. (orig.)

Comparative developmental psychology: how is human cognitive development unique?

Science.gov (United States)

Rosati, Alexandra G; Wobber, Victoria; Hughes, Kelly; Santos, Laurie R

2014-04-29

The fields of developmental and comparative psychology both seek to illuminate the roots of adult cognitive systems. Developmental studies target the emergence of adult cognitive systems over ontogenetic time, whereas comparative studies investigate the origins of human cognition in our evolutionary history. Despite the long tradition of research in both of these areas, little work has examined the intersection of the two: the study of cognitive development in a comparative perspective. In the current article, we review recent work using this comparative developmental approach to study non-human primate cognition. We argue that comparative data on the pace and pattern of cognitive development across species can address major theoretical questions in both psychology and biology. In particular, such integrative research will allow stronger biological inferences about the function of developmental change, and will be critical in addressing how humans come to acquire species-unique cognitive abilities.

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

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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.

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

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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.

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

Science.gov (United States)

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.

Developmental venous anomalies with capillary stain: a subgroup of symptomatic DVAs?

International Nuclear Information System (INIS)

Roccatagliata, Luca; Berg, Rene van den; Soderman, Michael; Boulin, Anne; Condette-Auliac, Stephanie; Rodesch, Georges

2012-01-01

Intracranial developmental venous anomalies (DVAs) are considered benign vascular dispositions; they are asymptomatic in the vast majority of cases. They represent extreme variations of the venous drainage and may rarely be responsible for focal venous ischemia leading to neurological dysfunction. The aim of the study is to analyze a group of patients with symptomatic DVAs with capillary stain at angiography. We retrospectively reviewed the clinical and radiological features of patients in which a DVA was considered the cause of a neurological event. In all the patients, the DVA was suspected by angio-CT or MRI and conventional angiography was performed to detail the angioarchitecture of the DVA. A total of 7 patients and 11 DVAs were identified; three patients had multiple DVAs. Three DVAs were frontal, two were parietal, two were thalamic, one was in the midbrain, and three were cerebellar. Patients presented with progressive neurological deficits, seizures, or cerebral hemorrhage. All these DVAs were associated with a peculiar capillary stain at angiography. Although being normal anatomical variations, DVAs may create, because of hemodynamic unbalance, venous ischemia that induces angiogenic phenomena. MRI shows the suffering of the brain and angiography witnesses this angiogenesis under the form of capillary stain. Conventional angiography can thus provide useful information to recognize ''atypical'' symptomatic DVAs. (orig.)

Breast developmental anomalies in dormaa municipality of ghana: prevalence and impact on the life of the individual.

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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).

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

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

2013-05-01

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

MR findings of congenital craniocerebral anomaly: correlation with seizures and development delay

International Nuclear Information System (INIS)

Ko, Seog Wan; Seo, Jeong Jin; Kim, Yun Hyeon; Yoon, Jong Hun; Kim, Hyun Ju; Kim, Hyeong Kil; Kang, Heoung Keun; Chung, Hyon De

1995-01-01

To evaluate characteristic MR findings of craniocerebral anomaly and its relationship with neurologic manifestations. We retrospectively reviewed MR images of 36 patients with craniocerebral anomaly diagnosed by MRI and clinical courses. We correlated the characteristic MR findings in 41 lesions with neurologic manifestations focusing on seizures and developmental delay. Twenty-three patients with seizures consisted of 14 patients(60%) with neuronal migration disorders and seven(30%) with phakomatosis, among which 18 patients(78%) had generalized type of seizures. Locations of the lesions were the parietal lobes in 11 patients(52%) and the subependymal or periventricular regions in seven(33%). Two patients with tuberous sclerosis had the lesions in both parietal and subependymal areas. Nine patients had the signs of developmental delay that were seen in the four(44%) with schizencephaly, two (22%) with tuberous sclerosis, two(22%) with heterotopia, and noe(11%) with pachygyria. Neuronal migration anomaly was relatively common lesion that presented neurologic festations such as seizures and developmental delay. Generalized type of seizures were common. We were able to diagnose these anomalies using the MRI that helped establish therapeutic plans

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

Science.gov (United States)

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.

The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.

Science.gov (United States)

Tao, Hirotaka; Kawakami, Yasuhiko; Hui, Chi-Chung; Hopyan, Sevan

2017-07-01

Functional annotation of mutations that cause human limb anomalies is enabled by basic developmental studies. In this study, we focus on the prepatterning stage of limb development and discuss a recent model that proposes anterior and posterior domains of the early limb bud generate two halves of the future skeleton. By comparing phenotypes in humans with those in model organisms, we evaluate whether this prepatterning concept helps to annotate human disease alleles. WIREs Dev Biol 2017, 6:e270. doi: 10.1002/wdev.270 For further resources related to this article, please visit the WIREs website. © 2017 Wiley Periodicals, Inc.

Coexistence of bilateral first and second branchial arch anomalies

Science.gov (United States)

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

2013-01-01

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

Developmental venous anomalies with capillary stain: a subgroup of symptomatic DVAs?

Energy Technology Data Exchange (ETDEWEB)

Roccatagliata, Luca [Hopital Foch, Service de Neuroradiologie Diagnostique et Therapeutique, Suresnes (France); University of Genoa, Department of Neurosciences, Ophthalmology and Genetics, Genoa (Italy); Berg, Rene van den [AMC, Department of Radiology, Amsterdam (Netherlands); Soderman, Michael [Karolinska University Hospital, Department of Neuroradiology, Stockholm (Sweden); Boulin, Anne; Condette-Auliac, Stephanie; Rodesch, Georges [Hopital Foch, Service de Neuroradiologie Diagnostique et Therapeutique, Suresnes (France)

2012-05-15

Intracranial developmental venous anomalies (DVAs) are considered benign vascular dispositions; they are asymptomatic in the vast majority of cases. They represent extreme variations of the venous drainage and may rarely be responsible for focal venous ischemia leading to neurological dysfunction. The aim of the study is to analyze a group of patients with symptomatic DVAs with capillary stain at angiography. We retrospectively reviewed the clinical and radiological features of patients in which a DVA was considered the cause of a neurological event. In all the patients, the DVA was suspected by angio-CT or MRI and conventional angiography was performed to detail the angioarchitecture of the DVA. A total of 7 patients and 11 DVAs were identified; three patients had multiple DVAs. Three DVAs were frontal, two were parietal, two were thalamic, one was in the midbrain, and three were cerebellar. Patients presented with progressive neurological deficits, seizures, or cerebral hemorrhage. All these DVAs were associated with a peculiar capillary stain at angiography. Although being normal anatomical variations, DVAs may create, because of hemodynamic unbalance, venous ischemia that induces angiogenic phenomena. MRI shows the suffering of the brain and angiography witnesses this angiogenesis under the form of capillary stain. Conventional angiography can thus provide useful information to recognize ''atypical'' symptomatic DVAs. (orig.)

Prevalence of dental anomalies in Indian population

OpenAIRE

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

2013-01-01

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

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

Directory of Open Access Journals (Sweden)

Suganya Kandeeban

2017-10-01

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

Human pluripotent stem cells: an emerging model in developmental biology.

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Zhu, Zengrong; Huangfu, Danwei

2013-02-01

Developmental biology has long benefited from studies of classic model organisms. Recently, human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, have emerged as a new model system that offers unique advantages for developmental studies. Here, we discuss how studies of hPSCs can complement classic approaches using model organisms, and how hPSCs can be used to recapitulate aspects of human embryonic development 'in a dish'. We also summarize some of the recently developed genetic tools that greatly facilitate the interrogation of gene function during hPSC differentiation. With the development of high-throughput screening technologies, hPSCs have the potential to revolutionize gene discovery in mammalian development.

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

Science.gov (United States)

McIntosh, Dawn

2006-01-01

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

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

Energy Technology Data Exchange (ETDEWEB)

Righini, Andrea; Parazzini, Cecilia; Izzo, Giana [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Cesaretti, Claudia [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); Ospedale Maggiore Policlinico, Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Milan (Italy); Conte, Giorgio [Children' s Hospital ' ' V. Buzzi' ' , Department of Radiology and Neuroradiology, Milan (Italy); University of Milan, Department of Health Sciences, Milan (Italy); Frassoni, Carolina; Inverardi, Francesca [Fondazione I.R.C.C.S. Istituto Neurologico ' ' C. Besta' ' , Clinical Epileptology and Experimental Neurophysiology Unit, Milan (Italy); Bulfamante, Gaetano; Avagliano, Laura [San Paolo Hospital, Division of Human Pathology, Milan (Italy); Rustico, Mariangela [Children' s Hospital ' ' V. Buzzi' ' , Department of Obstetrics and Gynaecology, Prenatal Diagnosis, Milan (Italy)

2016-03-15

Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies. (orig.)

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

International Nuclear Information System (INIS)

Righini, Andrea; Parazzini, Cecilia; Izzo, Giana; Cesaretti, Claudia; Conte, Giorgio; Frassoni, Carolina; Inverardi, Francesca; Bulfamante, Gaetano; Avagliano, Laura; Rustico, Mariangela

2016-01-01

Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies. (orig.)

X-Ray pictures of the developmental anomalis of the hard dental tissue

International Nuclear Information System (INIS)

Cecetkova, A.; Ondrasovicova, J.

2008-01-01

Dental anomalies are rare lessions of the hard dental tissue. They are as symptoms varies of the syndromes. They are as follow: hyperdoncia, hypodoncia, oligodoncia, anodoncia, mesiodens, macrodoncia and microdoncia. All of the above anomalis are detected by X-ray diagnostics ( intraoral and extra-oral radiography ). (authors)

Predicting human developmental toxicity of pharmaceuticals using human embryonic stem cells and metabolomics

International Nuclear Information System (INIS)

West, Paul R.; Weir, April M.; Smith, Alan M.; Donley, Elizabeth L.R.; Cezar, Gabriela G.

2010-01-01

Teratogens, substances that may cause fetal abnormalities during development, are responsible for a significant number of birth defects. Animal models used to predict teratogenicity often do not faithfully correlate to human response. Here, we seek to develop a more predictive developmental toxicity model based on an in vitro method that utilizes both human embryonic stem (hES) cells and metabolomics to discover biomarkers of developmental toxicity. We developed a method where hES cells were dosed with several drugs of known teratogenicity then LC-MS analysis was performed to measure changes in abundance levels of small molecules in response to drug dosing. Statistical analysis was employed to select for specific mass features that can provide a prediction of the developmental toxicity of a substance. These molecules can serve as biomarkers of developmental toxicity, leading to better prediction of teratogenicity. In particular, our work shows a correlation between teratogenicity and changes of greater than 10% in the ratio of arginine to asymmetric dimethylarginine levels. In addition, this study resulted in the establishment of a predictive model based on the most informative mass features. This model was subsequently tested for its predictive accuracy in two blinded studies using eight drugs of known teratogenicity, where it correctly predicted the teratogenicity for seven of the eight drugs. Thus, our initial data shows that this platform is a robust alternative to animal and other in vitro models for the prediction of the developmental toxicity of chemicals that may also provide invaluable information about the underlying biochemical pathways.

Prevalence of dental anomalies in Indian population.

Science.gov (United States)

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

2013-10-01

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

PTK7 marks the first human developmental EMT in vitro.

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David N Chan

Full Text Available Epithelial to mesenchymal transitions (EMTs are thought to be essential to generate diversity of tissues during early fetal development, but these events are essentially impossible to study at the molecular level in vivo in humans. The first EMT event that has been described morphologically in human development occurs just prior to generation of the primitive streak. Because human embryonic stem cells (hESCs and induced pluripotent stem cells (hiPSCs are thought to most closely resemble cells found in epiblast-stage embryos prior to formation of the primitive streak, we sought to determine whether this first human EMT could be modeled in vitro with pluripotent stem cells. The data presented here suggest that generating embryoid bodies from hESCs or hiPSCs drives a procession of EMT events that can be observed within 24-48 hours after EB generation. These structures possess the typical hallmarks of developmental EMTs, and portions also display evidence of primitive streak and mesendoderm. We identify PTK7 as a novel marker of this EMT population, which can also be used to purify these cells for subsequent analyses and identification of novel markers of human development. Gene expression analysis indicated an upregulation of EMT markers and ECM proteins in the PTK7+ population. We also find that cells that undergo this developmental EMT retain developmental plasticity as sorting, dissociation and re-plating reestablishes an epithelial phenotype.

Suppression of developmental anomalies by maternal macrophages in mice

International Nuclear Information System (INIS)

Nomura, T.; Hata, S.; Kusafuka, T.

1990-01-01

We tested whether nonspecific tumoricidal immune cells can suppress congenital malformations by killing precursor cells destined to cause such defects. Pretreatment of pregnant ICR mice with synthetic (Pyran copolymer) and biological (Bacillus Calmette-Guerin) agents significantly suppressed radiation- and chemical-induced congenital malformations (cleft palate, digit anomalies, tail anomalies, etc.). Such suppressive effects were associated with the activation of maternal macrophages by these agents, but were lost either after the disruption of activated macrophages by supersonic waves or by inhibition of their lysosomal enzyme activity with trypan blue. These results indicate that a live activated macrophage with active lysosomal enzymes can be an effector cell to suppress maldevelopment. A similar reduction by activated macrophages was observed in strain CL/Fr, which has a high spontaneous frequency of cleft lips and palates. Furthermore, Pyran-activated maternal macrophages could pass through the placenta, and enhanced urethane-induced cell killing (but not somatic mutation) in the embryo. It is likely that a maternal immunosurveillance system eliminating preteratogenic cells allows for the replacement with normal totipotent blast cells during the pregnancy to protect abnormal development

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

OpenAIRE

Yassin, Syed M.

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 Dent...

Distribution, Management Difficulty and Outcome of Branchial Anomalies.

Science.gov (United States)

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

2018-01-01

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

Endocrine disruptors: from Wingspread to environmental developmental biology.

Science.gov (United States)

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.

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

Nievelstein, R.A.J.; Valk, J.; Vos, A.

1998-01-01

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

Science.gov (United States)

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 orthopaedic diseases in foals

International Nuclear Information System (INIS)

Şİrİn, Özlem; Alkan, Zeki

2010-01-01

Developmental Orthopaedic Diseases (DOD) is seen frequently in horses which completed their maturity. Osteochondrosis, physitis, angular limb deformities, flexural deformities, juvenil arthritis, cervical vertebral anomalies, cuboidal bone abnormalities are problems investigated under Developmental Orthopaedic Diseases title. This diseases can develop single or some together in fast growing, heavy animals (especially Arabian and English Thoroughbreds). Multifactorial causes of this diseases etiopathogenesis can be listed as genetic predisposition, trauma, nutrition, vitamins/minerals and endocrine disorders. But the exact causes of these diseases are not known. In this review detailed information are given about the diseases mentioned above

Developmental intrahepatic shunts of childhood: radiological features and management

International Nuclear Information System (INIS)

Paley, M.R.; Farrant, P.; Kane, P.; Karani, J.B.; Heaton, N.D.; Howard, E.R.

1997-01-01

The purpose of this study was to evaluate the role of radiological techniques in the diagnosis and management of developmental intrahepatic shunts. Hepatic vascular fistulae are recognised sequelae of liver trauma and intrahepatic tumours. However, there are rare developmental malformations which may present in childhood or later life and which may carry life-threatening complications. Retrospective analysis of clinical and radiological data was carried out in 24 patients. Anomalies evaluated were: (a) direct communication between hepatic artery and hepatic veins; (b) congenital hepatoportal arteriovenous malformations; and (c) congenital portocaval anastomosis with persistent flow through the ductus venosus. Although rare, the prompt recognition of these vascular anomalies allows early surgical or radiological intervention and reversal of the haemodynamic complications. (orig.)

The role of developmental plasticity and epigenetics in human health.

Science.gov (United States)

Gluckman, Peter D; Hanson, Mark A; Low, Felicia M

2011-03-01

Considerable epidemiological, experimental and clinical data have amassed showing that the risk of developing disease in later life is dependent on early life conditions, mainly operating within the normative range of developmental exposures. This relationship reflects plastic responses made by the developing organism as an evolved strategy to cope with immediate or predicted circumstances, to maximize fitness in the context of the range of environments potentially faced. There is now increasing evidence, both in animals and humans, that such developmental plasticity is mediated in part by epigenetic mechanisms. However, recognition of the importance of developmental plasticity as an important factor in influencing later life health-particularly within the medical and public health communities-is low, and we argue that this indifference cannot be sustained in light of the growing understanding of developmental processes and the rapid rise in the prevalence of obesity and metabolic disease globally. Copyright © 2011 Wiley-Liss, Inc.

Constructivist developmental theory is needed in developmental neuroscience

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Can Nucleoli Be Markers of Developmental Potential in Human Zygotes?

Science.gov (United States)

Fulka, Helena; Kyogoku, Hirohisa; Zatsepina, Olga; Langerova, Alena; Fulka, Josef

2015-11-01

In 1999, Tesarik and Greco reported that they could predict the developmental potential of human zygotes from a single static evaluation of their pronuclei. This was based on the distribution and number of specific nuclear organelles - the nucleoli. Recent studies in mice show that nucleoli play a key role in parental genome restructuring after fertilization, and that interfering with this process may lead to developmental failure. These studies thus support the Tesarik-Greco evaluation as a potentially useful method for selecting high-quality embryos in human assisted reproductive technologies. In this opinion article we discuss recent evidence linking nucleoli to parental genome reprogramming, and ask whether nucleoli can mirror or be used as representative markers of embryonic parameters such as chromosome content or DNA fragmentation. Copyright © 2015 Elsevier Ltd. All rights reserved.

Anticipation of dental anomalies induced by radiation therapy

International Nuclear Information System (INIS)

Guggenheimer, J.; Fischer, W.G.; Pechersky, J.L.

1975-01-01

Therapeutic irradiation of the head and neck of children up to the age of 16 years can cause malformation and developmental arrest of the permanent teeth. Dental anomalies occurring after irradiation of the palatal tumor in an 8-year-old are described and compared with a normal 8-year-old's developmental sequence to demonstrate that the immature, noncalcified dental structures are most susceptible to radiation injury. The stage of dental development at the time of therapy may be precisely determined by a routine oral radiographic survey, which provides a reliable estimate of the deformation that may be anticipated following radiotherapy. (auth)

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Science.gov (United States)

Higgins, Anne W; Alkuraya, Fowzan S; Bosco, Amy F; Brown, Kerry K; Bruns, Gail A P; Donovan, Diana J; Eisenman, Robert; Fan, Yanli; Farra, Chantal G; Ferguson, Heather L; Gusella, James F; Harris, David J; Herrick, Steven R; Kelly, Chantal; Kim, Hyung-Goo; Kishikawa, Shotaro; Korf, Bruce R; Kulkarni, Shashikant; Lally, Eric; Leach, Natalia T; Lemyre, Emma; Lewis, Janine; Ligon, Azra H; Lu, Weining; Maas, Richard L; MacDonald, Marcy E; Moore, Steven D P; Peters, Roxanna E; Quade, Bradley J; Quintero-Rivera, Fabiola; Saadi, Irfan; Shen, Yiping; Shendure, Jay; Williamson, Robin E; Morton, Cynthia C

2008-03-01

Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has resulted in the mapping of 77 breakpoints from 40 chromosomal rearrangements by FISH with BACs and fosmids, array CGH, Southern-blot hybridization, MLPA, RT-PCR, and suppression PCR. Eighteen chromosomal breakpoints have been cloned and sequenced. Unsuspected genomic imbalances and cryptic rearrangements were detected, but less frequently than has been reported previously. Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation.

Developmental intrahepatic shunts of childhood: radiological features and management

Energy Technology Data Exchange (ETDEWEB)

Paley, M.R.; Farrant, P.; Kane, P.; Karani, J.B. [Department of Radiology, King`s College Hospital, Denmark Hill, London SE5 9RS (United Kingdom); Heaton, N.D.; Howard, E.R. [Department of Paediatric Hepatobiliary Surgery, King`s College Hospital Denmark Hill, London SE5 9RS (United Kingdom)

1997-12-01

The purpose of this study was to evaluate the role of radiological techniques in the diagnosis and management of developmental intrahepatic shunts. Hepatic vascular fistulae are recognised sequelae of liver trauma and intrahepatic tumours. However, there are rare developmental malformations which may present in childhood or later life and which may carry life-threatening complications. Retrospective analysis of clinical and radiological data was carried out in 24 patients. Anomalies evaluated were: (a) direct communication between hepatic artery and hepatic veins; (b) congenital hepatoportal arteriovenous malformations; and (c) congenital portocaval anastomosis with persistent flow through the ductus venosus. Although rare, the prompt recognition of these vascular anomalies allows early surgical or radiological intervention and reversal of the haemodynamic complications. (orig.) With 7 figs., 4 tabs., 22 refs.

Tibial and fibular developmental fields defects

International Nuclear Information System (INIS)

Khoury, N.J.; Haddad, M.C.; Hourani, M.H.

1999-01-01

Malformations of the lower limbs are rare and heterogeneous anomalies. To explain the diversity and complexity of these abnormalities, authors introduced the concept of tibial and fibular developmental fields. Defects in these fields are responsible for different malformations, which have been described, to our knowledge, in only one report in the radiology literature. We present a case of a newborn with femoral bifurcation, absent fibulae and talar bones, ankle and foot malformations, and associated atrial septal defect. Our case is an example of defects in both fibular and tibial developmental fields. (orig.)

Labiogingival groove: A rare developmental tooth anomaly

Directory of Open Access Journals (Sweden)

Shiva Chauhan

2017-01-01

Full Text Available Labiogingival groove is a congenital morphologic dental anomaly, in which an infolding of the inner enamel epithelium and Hertwig's epithelial root sheath create a groove extending varying depth into root. Epithelial attachment can be breached by gingival irritation secondary to plaque accumulation creating a periodontal defect that spreads to the pulp causing primary periodontal/secondary endodontic. A 12-year-old boy reported with the complaint of painful tooth with pus discharge from labial gingival surface in the maxillary right lateral incisor for 4 months. Intraoral examination revealed bluish red gingiva with loss of contour in relation to maxillary right lateral incisor and purulent discharge in relation to it. A provisional diagnosis of localized gingival abscess in relation to maxillary right incisor (primary periodontic and secondary endodontic involvement was given, and required treatment was carried out. On exposure of the involved tooth, a labiogingival groove was noticed which could have been a contributing factor for the progression of the condition.

Delineating Neural Structures of Developmental Human Brains with Diffusion Tensor Imaging

Directory of Open Access Journals (Sweden)

Hao Huang

2010-01-01

Full Text Available The human brain anatomy is characterized by dramatic structural changes during fetal development. It is extraordinarily complex and yet its origin is a simple tubular structure. Revealing detailed anatomy at different stages of brain development not only aids in understanding this highly ordered process, but also provides clues to detect abnormalities caused by genetic or environmental factors. However, anatomical studies of human brain development during the fetal period are surprisingly scarce and histology-based atlases have become available only recently. Diffusion tensor imaging (DTI measures water diffusion to delineate the underlying neural structures. The high contrasts derived from DTI can be used to establish the brain atlas. With DTI tractography, coherent neural structures, such as white matter tracts, can be three-dimensionally reconstructed. The primary eigenvector of the diffusion tensor can be further explored to characterize microstructures in the cerebral wall of the developmental brains. In this mini-review, the application of DTI in order to reveal the structures of developmental fetal brains has been reviewed in the above-mentioned aspects. The fetal brain DTI provides a unique insight for delineating the neural structures in both macroscopic and microscopic levels. The resultant DTI database will provide structural guidance for the developmental study of human fetal brains in basic neuroscience, and reference standards for diagnostic radiology of premature newborns.

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

OpenAIRE

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

2013-01-01

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 doub...

Can Nucleoli Be Markers of Developmental Potential in Human Zygotes?

Czech Academy of Sciences Publication Activity Database

Fulka, Helena; Kyogoku, H.; Zatsepina, O.; Langerova, A.; Fulka, J.

2015-01-01

Roč. 21, č. 11 (2015), s. 663-672 ISSN 1471-4914 Grant - others:GA ČR GA13-03269S Institutional support: RVO:68378050 ; RVO:67985904 Keywords : human zygotes * developmental potential * nucleoli Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.292, year: 2015

Congenital anomalies of the limbs in mythology and antiquity.

Science.gov (United States)

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

2018-04-01

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

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

Science.gov (United States)

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

2015-12-01

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

The developmental spectrum of proximal radioulnar synostosis

Energy Technology Data Exchange (ETDEWEB)

Elliott, Alison M. [University of Manitoba, Winnipeg Regional Health Association Program of Genetics and Metabolism, Winnipeg, MB (Canada); University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, WRHA Program of Genetics and Metabolism, Departments of Paediatrics and Child Health, Biochemistry and Medical Genetics, Winnipeg, MB (Canada); Kibria, Lisa [University of Manitoba, Department of School of Medical Rehabilitation, Winnipeg, MB (Canada); Reed, Martin H. [University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada)

2010-01-15

Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Records were searched for ''proximal radioulnar fusion/posterior radial head dislocation'' in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies

Brain Magnetic Resonance Imaging Findings in Developmentally Delayed Children

Directory of Open Access Journals (Sweden)

Ali Akbar Momen

2011-01-01

Full Text Available Background. Developmental disorders are failure or inability to acquire various age-specific skills at expected maturational age, which affects about 5–10% of preschool children. One of the most important methods for evaluation of developmentally delayed children is neuroimaging, especially, brain magnetic resonance imaging (MRI that provides useful information regarding brain tissue structures and anomalies. Method and Material. In this study, hospital records of 580 developmentally delayed children (aged 2 months to 15 years who admitted in pediatric ward of Golestan Hospital from 1997 to 2009 were selected. Information such as age, MRI findings were collected in the questionnaire and statistically analyzed. Results. Total, 580 children including 333 males (57.4% and 247 females (42.6% were studied. Abnormal brain MRI was observed in 340 (58.6% cases (204 Males, 136 females. The finding includes nonspecific in 38 (6.6%, congenital and developmental anomalies of brain in 39 (6.7%, recognizable syndromes in 3 (0.5%, neurovascular diseases or trauma in 218 (37.6%, and metabolic or neurodegenerative diseases in 42 (7.2% cases. Conclusion. Because 60% of all study groups showed abnormal brain MRI, using this method could be effective in diagnosis, management, and almost prognosis determination processes.

Growth anomalies on the coral genera Acropora and Porites are strongly associated with host density and human population size across the Indo-Pacific.

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Greta S Aeby

2011-02-01

Full Text Available Growth anomalies (GAs are common, tumor-like diseases that can cause significant morbidity and decreased fecundity in the major Indo-Pacific reef-building coral genera, Acropora and Porites. GAs are unusually tractable for testing hypotheses about drivers of coral disease because of their pan-Pacific distributions, relatively high occurrence, and unambiguous ease of identification. We modeled multiple disease-environment associations that may underlie the prevalence of Acropora growth anomalies (AGA (n = 304 surveys and Porites growth anomalies (PGA (n = 602 surveys from across the Indo-Pacific. Nine predictor variables were modeled, including coral host abundance, human population size, and sea surface temperature and ultra-violet radiation anomalies. Prevalence of both AGAs and PGAs were strongly host density-dependent. PGAs additionally showed strong positive associations with human population size. Although this association has been widely posited, this is one of the first broad-scale studies unambiguously linking a coral disease with human population size. These results emphasize that individual coral diseases can show relatively distinct patterns of association with environmental predictors, even in similar diseases (growth anomalies found on different host genera (Acropora vs. Porites. As human densities and environmental degradation increase globally, the prevalence of coral diseases like PGAs could increase accordingly, halted only perhaps by declines in host density below thresholds required for disease establishment.

Growth anomalies on the coral genera Acropora and Porites are strongly associated with host density and human population size across the Indo-Pacific

Science.gov (United States)

Aeby, Greta S.; Williams, Gareth J.; Franklin, Erik C.; Haapkyla, Jessica; Harvell, C. Drew; Neale, Stephen; Page, Cathie A.; Raymundo, Laurie; Vargas-Angel, Bernardo; Willis, Bette L.; Work, Thierry M.; Davy, Simon K.

2011-01-01

Growth anomalies (GAs) are common, tumor-like diseases that can cause significant morbidity and decreased fecundity in the major Indo-Pacific reef-building coral genera, Acropora and Porites. GAs are unusually tractable for testing hypotheses about drivers of coral disease because of their pan-Pacific distributions, relatively high occurrence, and unambiguous ease of identification. We modeled multiple disease-environment associations that may underlie the prevalence of Acropora growth anomalies (AGA) (n = 304 surveys) and Porites growth anomalies (PGA) (n = 602 surveys) from across the Indo-Pacific. Nine predictor variables were modeled, including coral host abundance, human population size, and sea surface temperature and ultra-violet radiation anomalies. Prevalence of both AGAs and PGAs were strongly host density-dependent. PGAs additionally showed strong positive associations with human population size. Although this association has been widely posited, this is one of the first broad-scale studies unambiguously linking a coral disease with human population size. These results emphasize that individual coral diseases can show relatively distinct patterns of association with environmental predictors, even in similar diseases (growth anomalies) found on different host genera (Acropora vs. Porites). As human densities and environmental degradation increase globally, the prevalence of coral diseases like PGAs could increase accordingly, halted only perhaps by declines in host density below thresholds required for disease establishment.

Associated anomalies in cleft lip and palate: analysis of 811 ...

African Journals Online (AJOL)

2017-08-03

Aug 3, 2017 ... study aimed to assess the prevalence of associated anomalies in ... female while 71% (578) were children and 29% (233) were adults. .... the original normal foetal developmental process, e.g. ... et al [6] in 1964 found that 15% of infants in the United .... Roberts RM; Mathias JL; Wheaton P. Cognitive.

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

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

2016-01-01

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

Neurogenetics and auditory processing in developmental dyslexia.

Science.gov (United States)

Giraud, Anne-Lise; Ramus, Franck

2013-02-01

Dyslexia is a polygenic developmental reading disorder characterized by an auditory/phonological deficit. Based on the latest genetic and neurophysiological studies, we propose a tentative model in which phonological deficits could arise from genetic anomalies of the cortical micro-architecture in the temporal lobe. Copyright © 2012 Elsevier Ltd. All rights reserved.

Short faces, big tongues: developmental origin of the human chin.

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Michael Coquerelle

Full Text Available During the course of human evolution, the retraction of the face underneath the braincase, and closer to the cervical column, has reduced the horizontal dimension of the vocal tract. By contrast, the relative size of the tongue has not been reduced, implying a rearrangement of the space at the back of the vocal tract to allow breathing and swallowing. This may have left a morphological signature such as a chin (mental prominence that can potentially be interpreted in Homo. Long considered an autopomorphic trait of Homo sapiens, various extinct hominins show different forms of mental prominence. These features may be the evolutionary by-product of equivalent developmental constraints correlated with an enlarged tongue. In order to investigate developmental mechanisms related to this hypothesis, we compare modern 34 human infants against 8 chimpanzee fetuses, whom development of the mandibular symphysis passes through similar stages. The study sets out to test that the shared ontogenetic shape changes of the symphysis observed in both species are driven by the same factor--space restriction at the back of the vocal tract and the associated arrangement of the tongue and hyoid bone. We apply geometric morphometric methods to extensive three-dimensional anatomical landmarks and semilandmarks configuration, capturing the geometry of the cervico-craniofacial complex including the hyoid bone, tongue muscle and the mandible. We demonstrate that in both species, the forward displacement of the mental region derives from the arrangement of the tongue and hyoid bone, in order to cope with the relative horizontal narrowing of the oral cavity. Because humans and chimpanzees share this pattern of developmental integration, the different forms of mental prominence seen in some extinct hominids likely originate from equivalent ontogenetic constraints. Variations in this process could account for similar morphologies.

Applied Developmental Biology: Making Human Pancreatic Beta Cells for Diabetics.

Science.gov (United States)

Melton, Douglas A

2016-01-01

Understanding the genes and signaling pathways that determine the differentiation and fate of a cell is a central goal of developmental biology. Using that information to gain mastery over the fates of cells presents new approaches to cell transplantation and drug discovery for human diseases including diabetes. © 2016 Elsevier Inc. All rights reserved.

Congenital varitans and anomalies of the pancreas and pancreatic duct: Imaging by magnetic resonance cholangiopancreaticography and multidetector computed tomography

Energy Technology Data Exchange (ETDEWEB)

Tuerkvatan, Aysel; Yener, Ouzlem [Dept. of Radiology, Tuerkiye Yueksek Ihtisas Hospital, Ankara (Turkmenistan); Erden, Aysel [Dept. of Radiology, Ankara University School of Medicine, Antalya (Turkmenistan); Tuerkoglu, Mehmet Akif [Dept. of General Surgery, Antalya University School of Medicine, Antalya (Turkmenistan)

2013-12-15

Though congenital anomalies of the pancreas and pancreatic duct are relatively uncommon and they are often discovered as an incidental finding in asymptomatic patients, some of these anomalies may lead to various clinical symptoms such as recurrent abdominal pain, nausea and vomiting. Recognition of these anomalies is important because these anomalies may be a surgically correctable cause of recurrent pancreatitis or the cause of gastric outlet obstruction. An awareness of these anomalies may help in surgical planning and prevent inadvertent ductal injury. The purpose of this article is to review normal pancreatic embryology, the appearance of ductal anatomic variants and developmental anomalies of the pancreas, with emphasis on magnetic resonance cholangiopancreaticography and multidetector computed tomography.

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

Directory of Open Access Journals (Sweden)

Peter Christiansen

2016-11-01

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

Linking Social Change and Developmental Change: Shifting Pathways of Human Development

Science.gov (United States)

Greenfield, Patricia M.

2009-01-01

P. M. Greenfield's new theory of social change and human development aims to show how changing sociodemographic ecologies alter cultural values and learning environments and thereby shift developmental pathways. Worldwide sociodemographic trends include movement from rural residence, informal education at home, subsistence economy, and…

Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases.

Science.gov (United States)

Chikkannaiah, Panduranga; Mahadevan, Anita; Gosavi, Manasi; Kangle, Ranjit; Anuradha; Shankar, S K

2014-07-01

Sirenomelia, a developmental defect involving the caudal region of the body, is associated with several internal visceral anomalies. We report a detailed spectrum of anomalies in an autopsy study of four fetuses with sirenomelia (gestational ages - 20, 21, 22.4, and 22.5 weeks). Three of the fetuses had single umbilical artery, with genitourinary and gastrointestinal anomalies. Central nervous system anomalies were evident in two of the fetuses, with alobar holoprosencephaly in one and lumbar meningomyelocele in another. The most common gastrointestinal anomaly was blind ended gut (imperforate anus), while esophageal atresia and omphalocele were noted in one case each. Renal hypoplasia was seen in two fetuses, renal agenesis in one and cystic renal dysplasia was noted in one case. Literature regarding pathogenesis of this condition is briefly discussed. Copyright © 2014 Elsevier GmbH. All rights reserved.

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

Science.gov (United States)

Yassin, Syed M

2016-12-01

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

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

Science.gov (United States)

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.

Promoting positive human development and social justice: Integrating theory, research and application in contemporary developmental science.

Science.gov (United States)

Lerner, Richard M

2015-06-01

The bold claim that developmental science can contribute to both enhancing positive development among diverse individuals across the life span and promoting social justice in their communities, nations and regions is supported by decades of theoretical, methodological and research contributions. To explain the basis of this claim, I describe the relational developmental systems (RDS) metamodel that frames contemporary developmental science, and I present an example of a programme of research within the adolescent portion of the life span that is associated with this metamodel and is pertinent to promoting positive human development. I then discuss methodological issues associated with using RDS-based models as frames for research and application. Finally, I explain how the theoretical and methodological ideas associated with RDS thinking may provide the scholarly tools needed by developmental scientists seeking to contribute to human thriving and to advance social justice in the Global South. © 2015 International Union of Psychological Science.

The Juvenile Transition: A Developmental Switch Point in Human Life History

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Del Giudice, Marco; Angeleri, Romina; Manera, Valeria

2009-01-01

This paper presents a new perspective on the transition from early to middle childhood (i.e., human juvenility), investigated in an integrative evolutionary framework. Juvenility is a crucial life history stage, when social learning and interaction with peers become central developmental functions; here it is argued that the "juvenile transition"…

Towards Developmental Connectomics of the Human Brain

Directory of Open Access Journals (Sweden)

Miao eCao

2016-03-01

Full Text Available Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorders or attention-deficit hyperactivity disorder. In this review, we focused on the recent progresses regarding typical and atypical development of human brain networks from birth to early adulthood, using a connectomic approach. Specifically, by the time of birth, structural networks already exhibit adult-like organization, with global efficient small-world and modular structures, as well as hub regions and rich-clubs acting as communication backbones. During development, the structure networks are fine-tuned, with increased global integration and robustness and decreased local segregation, as well as the strengthening of the hubs. In parallel, functional networks undergo more dramatic changes during maturation, with both increased integration and segregation during development, as brain hubs shift from primary regions to high order functioning regions, and the organization of modules transitions from a local anatomical emphasis to a more distributed architecture. These findings suggest that structural networks develop earlier than functional networks; meanwhile functional networks demonstrate more dramatic maturational changes with the evolution of structural networks serving as the anatomical backbone. In this review, we also highlighted topologically disorganized characteristics in structural and functional brain networks in several major developmental neuropsychiatric disorders (e.g., autism spectrum disorders, attention-deficit hyperactivity disorder and

Toward Developmental Connectomics of the Human Brain.

Science.gov (United States)

Cao, Miao; Huang, Hao; Peng, Yun; Dong, Qi; He, Yong

2016-01-01

Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood, and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorders or attention-deficit hyperactivity disorder. In this review, we focused on the recent progresses regarding typical and atypical development of human brain networks from birth to early adulthood, using a connectomic approach. Specifically, by the time of birth, structural networks already exhibit adult-like organization, with global efficient small-world and modular structures, as well as hub regions and rich-clubs acting as communication backbones. During development, the structure networks are fine-tuned, with increased global integration and robustness and decreased local segregation, as well as the strengthening of the hubs. In parallel, functional networks undergo more dramatic changes during maturation, with both increased integration and segregation during development, as brain hubs shift from primary regions to high order functioning regions, and the organization of modules transitions from a local anatomical emphasis to a more distributed architecture. These findings suggest that structural networks develop earlier than functional networks; meanwhile functional networks demonstrate more dramatic maturational changes with the evolution of structural networks serving as the anatomical backbone. In this review, we also highlighted topologically disorganized characteristics in structural and functional brain networks in several major developmental neuropsychiatric disorders (e.g., autism spectrum disorders, attention-deficit hyperactivity disorder and developmental

Toward Developmental Connectomics of the Human Brain

Science.gov (United States)

Cao, Miao; Huang, Hao; Peng, Yun; Dong, Qi; He, Yong

2016-01-01

Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood, and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorders or attention-deficit hyperactivity disorder. In this review, we focused on the recent progresses regarding typical and atypical development of human brain networks from birth to early adulthood, using a connectomic approach. Specifically, by the time of birth, structural networks already exhibit adult-like organization, with global efficient small-world and modular structures, as well as hub regions and rich-clubs acting as communication backbones. During development, the structure networks are fine-tuned, with increased global integration and robustness and decreased local segregation, as well as the strengthening of the hubs. In parallel, functional networks undergo more dramatic changes during maturation, with both increased integration and segregation during development, as brain hubs shift from primary regions to high order functioning regions, and the organization of modules transitions from a local anatomical emphasis to a more distributed architecture. These findings suggest that structural networks develop earlier than functional networks; meanwhile functional networks demonstrate more dramatic maturational changes with the evolution of structural networks serving as the anatomical backbone. In this review, we also highlighted topologically disorganized characteristics in structural and functional brain networks in several major developmental neuropsychiatric disorders (e.g., autism spectrum disorders, attention-deficit hyperactivity disorder and developmental

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

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M. Amelia Chemisquy

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

Developmental abnormalities of mid and hindbrain: A study of 23 ...

African Journals Online (AJOL)

Introduction: With the advent of neuroimaging modalities specifically, magnetic resonance imaging (MRI), recognition of developmental defects of posterior fossa has greatly improved. The Aim: Is to delineate the clinical, cytogenetics and radiological features of patients with mid-hindbrain anomalies. Patient and Methods: ...

Developmental neurotoxicity screening using human embryonic stem cells.

Science.gov (United States)

Bosnjak, Zeljko J

2012-09-01

Research in the area of stem cell biology and regenerative medicine, along with neuroscience, will further our understanding of drug-induced death of neurons during their development. With the development of an in vitro model of stem cell-derived human neural cell lines investigators can, under control conditions and during intense neuronal growth, examine molecular mechanisms of various drugs and conditions on early developmental neuroapoptosis in humans. If the use of this model will lead to fewer risks, or identification of drugs and anesthetics that are less likely to cause the death of neurons, this approach will be a major stride toward assuring the safety of drugs during the brain development. The ultimate goal would be not only to find the trigger for the catastrophic chain of events, but also to prevent neuronal cell death itself. Copyright © 2012. Published by Elsevier Inc.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

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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.

Congenital agenesis of unilateral parotid gland with ipsilateral type I first branchial cleft anomaly: A rare presentation

OpenAIRE

Tripti Maithani; Apoorva Pandey; Seema Acharya

2014-01-01

Aim: To report a rare case of unilateral parotid agenesis with ipsilateral type I first branchial cleft anomaly. Material and methods: A case study with special emphasis on the embryology, outlining the complex developmental process of parotid and branchial arches and highlighting the probable reason for development of such anomalies. Results: The literature states that unilateral parotid agenesis is a rare entity with few reported cases occurring solely or in conjunction with other hea...

Developmental and reproductive toxicity of inorganic arsenic: animal studies and human concerns.

Science.gov (United States)

Golub, M S; Macintosh, M S; Baumrind, N

1998-01-01

Information on the reproductive and developmental toxicity of inorganic arsenic is available primarily from studies in animals using arsenite and arsenate salts and arsenic trioxide. Inorganic arsenic has been extensively studied as a teratogen in animals. Data from animal studies demonstrate that arsenic can produce developmental toxicity, including malformation, death, and growth retardation, in four species (hamsters, mice, rats, rabbits). A characteristic pattern of malformations is produced, and the developmental toxicity effects are dependent on dose, route, and the day of gestation when exposure occurs. Studies with gavage and diet administration indicate that death and growth retardation are produced by oral arsenic exposure. Arsenic is readily transferred to the fetus and produces developmental toxicity in embryo culture. Animal studies have not identified an effect of arsenic on fertility in males or females. When females were dosed chronically for periods that included pregnancy, the primary effect of arsenic on reproduction was a dose-dependent increase in conceptus mortality and in postnatal growth retardation. Human data are limited to a few studies of populations exposed to arsenic from drinking water or from working at or living near smelters. Associations with spontaneous abortion and stillbirth have been reported in more than one of these studies, but interpretation of these studies is complicated because study populations were exposed to multiple chemicals. Thus, animal studies suggest that environmental arsenic exposures are primarily a risk to the developing fetus. In order to understand the implications for humans, attention must be given to comparative pharmacokinetics and metabolism, likely exposure scenarios, possible mechanisms of action, and the potential role of arsenic as an essential nutrient.

The significance of the subplate for evolution and developmental plasticity of the human brain.

Science.gov (United States)

Judaš, Miloš; Sedmak, Goran; Kostović, Ivica

2013-01-01

The human life-history is characterized by long development and introduction of new developmental stages, such as childhood and adolescence. The developing brain had important role in these life-history changes because it is expensive tissue which uses up to 80% of resting metabolic rate (RMR) in the newborn and continues to use almost 50% of it during the first 5 postnatal years. Our hominid ancestors managed to lift-up metabolic constraints to increase in brain size by several interrelated ecological, behavioral and social adaptations, such as dietary change, invention of cooking, creation of family-bonded reproductive units, and life-history changes. This opened new vistas for the developing brain, because it became possible to metabolically support transient patterns of brain organization as well as developmental brain plasticity for much longer period and with much greater number of neurons and connectivity combinations in comparison to apes. This included the shaping of cortical connections through the interaction with infant's social environment, which probably enhanced typically human evolution of language, cognition and self-awareness. In this review, we propose that the transient subplate zone and its postnatal remnant (interstitial neurons of the gyral white matter) probably served as the main playground for evolution of these developmental shifts, and describe various features that makes human subplate uniquely positioned to have such a role in comparison with other primates.

THE SIGNIFICANCE OF THE SUBPLATE FOR EVOLUTION AND DEVELOPMENTAL PLASTICITY OF THE HUMAN BRAIN

Directory of Open Access Journals (Sweden)

MILOS eJUDAS

2013-08-01

Full Text Available The human life-history is characterized by long development and introduction of new developmental stages, such as childhood and adolescence. The developing brain had important role in these life-history changes because it is expensive tissue which uses up to 80% of resting metabolic rate in the newborn and continues to use almost 50% of it during the first 5 postnatal years. Our hominid ancestors managed to lift-up metabolic constraints to increase in brain size by several interrelated ecological, behavioral and social adaptations, such as dietary change, invention of cooking, creation of family-bonded reproductive units, and life-history changes. This opened new vistas for the developing brain, because it became possible to metabolically support transient patterns of brain organization as well as developmental brain plasticity for much longer period and with much greater number of neurons and connectivity combinations in comparison to apes. This included the shaping of cortical connections through the interaction with infant's social environment, which probably enhanced typically human evolution of language, cognition and self-awareness. In this review, we propose that the transient subplate zone and its postnatal remnant (interstitial neurons of the gyral white matter probably served as the main playground for evolution of these developmental shifts, and describe various features that makes human subplate uniquely positioned to have such a role in comparison with other primates.

Coronary Artery Anomalies in Animals

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Brian A. Scansen

2017-04-01

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

Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective.

Science.gov (United States)

Zirra, Alexandra; Wiethoff, Sarah; Patani, Rickie

2016-01-01

Since the reprogramming of adult human terminally differentiated somatic cells into induced pluripotent stem cells (hiPSCs) became a reality in 2007, only eight years have passed. Yet over this relatively short period, myriad experiments have revolutionized previous stem cell dogmata. The tremendous promise of hiPSC technology for regenerative medicine has fuelled rising expectations from both the public and scientific communities alike. In order to effectively harness hiPSCs to uncover fundamental mechanisms of disease, it is imperative to first understand the developmental neurobiology underpinning their lineage restriction choices in order to predictably manipulate cell fate to desired derivatives. Significant progress in developmental biology provides an invaluable resource for rationalising directed differentiation of hiPSCs to cellular derivatives of the nervous system. In this paper we begin by reviewing core developmental concepts underlying neural induction in order to provide context for how such insights have guided reductionist in vitro models of neural conversion from hiPSCs. We then discuss early factors relevant in neural patterning, again drawing upon crucial knowledge gained from developmental neurobiological studies. We conclude by discussing open questions relating to these concepts and how their resolution might serve to strengthen the promise of pluripotent stem cells in regenerative medicine.

Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective

Directory of Open Access Journals (Sweden)

Alexandra Zirra

2016-01-01

Full Text Available Since the reprogramming of adult human terminally differentiated somatic cells into induced pluripotent stem cells (hiPSCs became a reality in 2007, only eight years have passed. Yet over this relatively short period, myriad experiments have revolutionized previous stem cell dogmata. The tremendous promise of hiPSC technology for regenerative medicine has fuelled rising expectations from both the public and scientific communities alike. In order to effectively harness hiPSCs to uncover fundamental mechanisms of disease, it is imperative to first understand the developmental neurobiology underpinning their lineage restriction choices in order to predictably manipulate cell fate to desired derivatives. Significant progress in developmental biology provides an invaluable resource for rationalising directed differentiation of hiPSCs to cellular derivatives of the nervous system. In this paper we begin by reviewing core developmental concepts underlying neural induction in order to provide context for how such insights have guided reductionist in vitro models of neural conversion from hiPSCs. We then discuss early factors relevant in neural patterning, again drawing upon crucial knowledge gained from developmental neurobiological studies. We conclude by discussing open questions relating to these concepts and how their resolution might serve to strengthen the promise of pluripotent stem cells in regenerative medicine.

Developmental Work

DEFF Research Database (Denmark)

Møller, Niels; Hvid, Helge; Kristensen, Tage Søndergaard

2003-01-01

Human Deveoplment and Working Life - Work for Welfare explores whether the development of human resources at company level can improve individuals' quality of life, companies' possibilities of development, and welfare and democracy in society. Chapter two discuss the concept "developmental work...

A Developmental Shift from Positive to Negative Connectivity in Human Amygdala-Prefrontal Circuitry

Science.gov (United States)

Gee, Dylan G.; Humphreys, Kathryn L.; Flannery, Jessica; Goff, Bonnie; Telzer, Eva H.; Shapiro, Mor; Hare, Todd A.; Bookheimer, Susan Y.; Tottenham, Nim

2013-01-01

Recent human imaging and animal studies highlight the importance of frontoamygdala circuitry in the regulation of emotional behavior and its disruption in anxiety-related disorders. While tracing studies have suggested changes in amygdala-cortical connectivity through the adolescent period in rodents, less is known about the reciprocal connections within this circuitry across human development, when these circuits are being fine-tuned and substantial changes in emotional control are observed. The present study examined developmental changes in amygdala-prefrontal circuitry across the ages of 4 to 22 years using task-based functional magnetic resonance imaging (fMRI). Results suggest positive amygdala-prefrontal connectivity in early childhood that switches to negative functional connectivity during the transition to adolescence. Amygdala-mPFC functional connectivity was significantly positive (greater than zero) among participants younger than ten, whereas functional connectivity was significantly negative (less than zero) among participants ten years and older, over and above the effect of amygdala reactivity. The developmental switch in functional connectivity was paralleled by a steady decline in amygdala reactivity. Moreover, the valence switch might explain age-related improvement in task performance and a developmentally normative decline in anxiety. Initial positive connectivity followed by a valence shift to negative connectivity provides a neurobiological basis for regulatory development and may present novel insight into a more general process of developing regulatory connections. PMID:23467374

I. DEVELOPMENTAL METHODOLOGY AS A CENTRAL SUBDISCIPLINE OF DEVELOPMENTAL SCIENCE.

Science.gov (United States)

Card, Noel A

2017-06-01

This first chapter introduces the main goals of the monograph and previews the remaining chapters. The goals of this monograph are to provide summaries of our current understanding of advanced developmental methodologies, provide information that can advance our understanding of human development, identify shortcomings in our understanding of developmental methodology, and serve as a flagpost for organizing developmental methodology as a subdiscipline within the broader field of developmental science. The remaining chapters in this monograph address issues in design (sampling and big data), longitudinal data analysis, and issues of replication and research accumulation. The final chapter describes the history of developmental methodology, considers how the previous chapters in this monograph fit within this subdiscipline, and offers recommendations for further advancement. © 2017 The Society for Research in Child Development, Inc.

CSAX: Characterizing Systematic Anomalies in eXpression Data

Science.gov (United States)

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

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

Energy Technology Data Exchange (ETDEWEB)

Severino, Mariasavina; Tortora, Domenico; Rossi, Andrea [Istituto Giannina Gaslini, Neuroradiology Unit, Genova (Italy); Pistorio, Angela [Istituto Giannina Gaslini, Epidemiology and Biostatistics Unit, Genoa (Italy); Ramenghi, Luca Antonio [Istituto Giannina Gaslini, Neonatal Intensive Care Unit, Genoa (Italy); Napoli, Flavia [Istituto Giannina Gaslini, Endocrinology Unit, Genoa (Italy); Mancardi, Maria Margherita [Istituto Giannina Gaslini, Neuropsychiatry Unit, Genoa (Italy); Striano, Pasquale [Istituto Giannina Gaslini, Paediatric Neurology and Muscular Diseases Unit, Genoa (Italy); Capra, Valeria [Istituto Giannina Gaslini, Genetic Unit, Genoa (Italy)

2016-01-15

We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p{sub B}). Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p{sub B} =.006) and craniocaudal (p{sub B} =.027) diameters of the pons, craniocaudal diameter of the vermis (p{sub B} =.015), and transverse cerebellar diameter (p{sub B} =.011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p{sub B} =.002), pons (p{sub B} =.0004), and medulla (p{sub B} =.002) as well as the vermian anteroposterior (p{sub B} =.040) and craniocaudal diameters (p{sub B} =.014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay. The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies. (orig.)

Congenital anomalies in infants conceived by assisted reproductive techniques.

Science.gov (United States)

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.

Functional aspects of developmental toxicity of polyhalogenated aromatic hydrocarbons in experimental animals and human infants

NARCIS (Netherlands)

Brouwer, A.; Ahlborg, U. G.; van den Berg, M.; Birnbaum, L. S.; Boersma, E. R.; Bosveld, B.; Denison, M. S.; Gray, L. E.; Hagmar, L.; Holene, E.

1995-01-01

A scientific evaluation was made of functional aspects of developmental toxicity of polychlorinated biphenyls (PCBs), polychlorinated dibenzo-p-dioxins (PCDDs) and polychlorinated dibenzofurans (PCDFs) in experimental animals and in human infants. Persistent neurobehavioral, reproductive and

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

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Giuseppe Fusco

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

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children

International Nuclear Information System (INIS)

Young, Allen; Bosemani, Thangamadhan; Goel, Reema; Huisman, Thierry A.G.M.; Poretti, Andrea

2017-01-01

Developmental venous anomalies (DVA) are common neuroimaging abnormalities that are traditionally diagnosed by contrast-enhanced T1-weighted images as the gold standard. We aimed to evaluate the sensitivity of SWI in detecting DVA and associated cavernous malformations (CM) and microhemorrhages in children in order to determine if SWI may replace contrast-enhanced MRI sequences. Contrast-enhanced T1-weighted images were used as diagnostic gold standard for DVA. The presence of DVA was qualitatively assessed on axial SWI and T2-weighted images by an experienced pediatric neuroradiologist. In addition, the presence of CM and microhemorrhages was evaluated on SWI and contrast-enhanced T1-weighted images. Fifty-seven children with DVA (34 males, mean age at neuroimaging 11.2 years, range 1 month to 17.9 years) were included in this study. Forty-nine out of 57 DVA were identified on SWI (sensitivity of 86%) and 16 out of 57 DVA were detected on T2-weighted images (sensitivity of 28.1%). General anesthesia-related changes in brain hemodynamics and oxygenation were most likely responsible for the majority of SWI false negative. CM were detected in 12 patients on axial SWI, but only in six on contrast-enhanced T1-weighted images. Associated microhemorrhages could be identified in four patients on both axial SWI and contrast-enhanced T1-weighted images, although more numerous and conspicuous on SWI. SWI can identify DVA and associated cavernous malformations and microhemorrhages with high sensitivity, obviating the need for contrast-enhanced MRI sequences. (orig.)

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children

Energy Technology Data Exchange (ETDEWEB)

Young, Allen; Bosemani, Thangamadhan; Goel, Reema; Huisman, Thierry A.G.M. [The Johns Hopkins School of Medicine, Charlotte R. Bloomberg Children' s Center, Division of Pediatric Radiology and Pediatric Neuroradiology, The Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Poretti, Andrea [The Johns Hopkins School of Medicine, Charlotte R. Bloomberg Children' s Center, Division of Pediatric Radiology and Pediatric Neuroradiology, The Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Kennedy Krieger Institute, Department of Neurogenetics, Baltimore, MD (United States)

2017-08-15

Developmental venous anomalies (DVA) are common neuroimaging abnormalities that are traditionally diagnosed by contrast-enhanced T1-weighted images as the gold standard. We aimed to evaluate the sensitivity of SWI in detecting DVA and associated cavernous malformations (CM) and microhemorrhages in children in order to determine if SWI may replace contrast-enhanced MRI sequences. Contrast-enhanced T1-weighted images were used as diagnostic gold standard for DVA. The presence of DVA was qualitatively assessed on axial SWI and T2-weighted images by an experienced pediatric neuroradiologist. In addition, the presence of CM and microhemorrhages was evaluated on SWI and contrast-enhanced T1-weighted images. Fifty-seven children with DVA (34 males, mean age at neuroimaging 11.2 years, range 1 month to 17.9 years) were included in this study. Forty-nine out of 57 DVA were identified on SWI (sensitivity of 86%) and 16 out of 57 DVA were detected on T2-weighted images (sensitivity of 28.1%). General anesthesia-related changes in brain hemodynamics and oxygenation were most likely responsible for the majority of SWI false negative. CM were detected in 12 patients on axial SWI, but only in six on contrast-enhanced T1-weighted images. Associated microhemorrhages could be identified in four patients on both axial SWI and contrast-enhanced T1-weighted images, although more numerous and conspicuous on SWI. SWI can identify DVA and associated cavernous malformations and microhemorrhages with high sensitivity, obviating the need for contrast-enhanced MRI sequences. (orig.)

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

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Daniela Gamba Garib

2005-12-01

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

Detection of anomaly in human retina using Laplacian Eigenmaps and vectorized matched filtering

Science.gov (United States)

Yacoubou Djima, Karamatou A.; Simonelli, Lucia D.; Cunningham, Denise; Czaja, Wojciech

2015-03-01

We present a novel method for automated anomaly detection on auto fluorescent data provided by the National Institute of Health (NIH). This is motivated by the need for new tools to improve the capability of diagnosing macular degeneration in its early stages, track the progression over time, and test the effectiveness of new treatment methods. In previous work, macular anomalies have been detected automatically through multiscale analysis procedures such as wavelet analysis or dimensionality reduction algorithms followed by a classification algorithm, e.g., Support Vector Machine. The method that we propose is a Vectorized Matched Filtering (VMF) algorithm combined with Laplacian Eigenmaps (LE), a nonlinear dimensionality reduction algorithm with locality preserving properties. By applying LE, we are able to represent the data in the form of eigenimages, some of which accentuate the visibility of anomalies. We pick significant eigenimages and proceed with the VMF algorithm that classifies anomalies across all of these eigenimages simultaneously. To evaluate our performance, we compare our method to two other schemes: a matched filtering algorithm based on anomaly detection on single images and a combination of PCA and VMF. LE combined with VMF algorithm performs best, yielding a high rate of accurate anomaly detection. This shows the advantage of using a nonlinear approach to represent the data and the effectiveness of VMF, which operates on the images as a data cube rather than individual images.

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

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Suprabha B

2009-01-01

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

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

Science.gov (United States)

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.

Gravitational anomalies

Energy Technology Data Exchange (ETDEWEB)

Leutwyler, H; Mallik, S

1986-12-01

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

Developmental Immunotoxicity, Perinatal Programming, and Noncommunicable Diseases: Focus on Human Studies

Science.gov (United States)

Dietert, Rodney R.

2014-01-01

Developmental immunotoxicity (DIT) is a term given to encompass the environmentally induced disruption of normal immune development resulting in adverse outcomes. A myriad of chemical, physical, and psychological factors can all contribute to DIT. As a core component of the developmental origins of adult disease, DIT is interlinked with three important concepts surrounding health risks across a lifetime: (1) the Barker Hypothesis, which connects prenatal development to later-life diseases, (2) the hygiene hypothesis, which connects newborns and infants to risk of later-life diseases and, (3) fetal programming and epigenetic alterations, which may exert effects both in later life and across future generations. This review of DIT considers: (1) the history and context of DIT research, (2) the fundamental features of DIT, (3) the emerging role of DIT in risk of noncommunicable diseases (NCDs) and (4) the range of risk factors that have been investigated through human research. The emphasis on the human DIT-related literature is significant since most prior reviews of DIT have largely focused on animal research and considerations of specific categories of risk factors (e.g., heavy metals). Risk factors considered in this review include air pollution, aluminum, antibiotics, arsenic, bisphenol A, ethanol, lead (Pb), maternal smoking and environmental tobacco smoke, paracetamol (acetaminophen), pesticides, polychlorinated biphenyls, and polyfluorinated compounds. PMID:26556429

Developmental gene expression profiles of the human pathogen Schistosoma japonicum

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McManus Donald P

2009-03-01

Full Text Available Abstract Background The schistosome blood flukes are complex trematodes and cause a chronic parasitic disease of significant public health importance worldwide, schistosomiasis. Their life cycle is characterised by distinct parasitic and free-living phases involving mammalian and snail hosts and freshwater. Microarray analysis was used to profile developmental gene expression in the Asian species, Schistosoma japonicum. Total RNAs were isolated from the three distinct environmental phases of the lifecycle – aquatic/snail (eggs, miracidia, sporocysts, cercariae, juvenile (lung schistosomula and paired but pre-egg laying adults and adult (paired, mature males and egg-producing females, both examined separately. Advanced analyses including ANOVA, principal component analysis, and hierarchal clustering provided a global synopsis of gene expression relationships among the different developmental stages of the schistosome parasite. Results Gene expression profiles were linked to the major environmental settings through which the developmental stages of the fluke have to adapt during the course of its life cycle. Gene ontologies of the differentially expressed genes revealed a wide range of functions and processes. In addition, stage-specific, differentially expressed genes were identified that were involved in numerous biological pathways and functions including calcium signalling, sphingolipid metabolism and parasite defence. Conclusion The findings provide a comprehensive database of gene expression in an important human pathogen, including transcriptional changes in genes involved in evasion of the host immune response, nutrient acquisition, energy production, calcium signalling, sphingolipid metabolism, egg production and tegumental function during development. This resource should help facilitate the identification and prioritization of new anti-schistosome drug and vaccine targets for the control of schistosomiasis.

Translating Developmental Principles to Generate Human Gastric Organoids

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Alexandra K. Eicher

2018-01-01

Full Text Available Gastric diseases, including peptic ulcer disease and gastric cancer, are highly prevalent in human beings. Despite this, the cellular biology of the stomach remains poorly understood relative to other gastrointestinal organs such as the liver, intestine, and colon. In particular, little is known about the molecular basis of stomach development and the differentiation of gastric lineages. Although animal models are useful for studying gastric development, function, and disease, there are major structural and physiological differences in human stomachs that render these models insufficient. To look at gastric development, function, and disease in a human context, a model system of the human stomach is imperative. This review details how this was achieved through the directed differentiation of human pluripotent stem cells in a 3-dimensional environment into human gastric organoids (HGOs. Similar to previous work that has generated human intestine, colon, and lung tissue in vitro, HGOs were generated in vitro through a step-wise differentiation designed to mimic the temporal-spatial signaling dynamics that control stomach development in vivo. HGOs can be used for a variety of purposes, including genetic modeling, drug screening, and potentially even in future patient transplantation. Moreover, HGOs are well suited to study the development and interactions of nonepithelial cell types, such as endothelial, neuronal, and mesenchymal, which remain almost completely unstudied. This review discusses the basics of stomach morphology, function, and developmental pathways involved in generating HGOs. We also highlight important gaps in our understanding of how epithelial and mesenchymal interactions are essential for the development and overall function of the human stomach.

An enlarged parietal foramen in the late archaic Xujiayao 11 neurocranium from Northern China, and rare anomalies among Pleistocene Homo.

Science.gov (United States)

Wu, Xiu-Jie; Xing, Song; Trinkaus, Erik

2013-01-01

We report here a neurocranial abnormality previously undescribed in Pleistocene human fossils, an enlarged parietal foramen (EPF) in the early Late Pleistocene Xujiayao 11 parietal bones from the Xujiayao (Houjiayao) site, northern China. Xujiayao 11 is a pair of partial posteromedial parietal bones from an adult. It exhibits thick cranial vault bones, arachnoid granulations, a deviated posterior sagittal suture, and a unilateral (right) parietal lacuna with a posteriorly-directed and enlarged endocranial vascular sulcus. Differential diagnosis indicates that the perforation is a congenital defect, an enlarged parietal foramen, commonly associated with cerebral venous and cranial vault anomalies. It was not lethal given the individual's age-at-death, but it may have been associated with secondary neurological deficiencies. The fossil constitutes the oldest evidence in human evolution of this very rare condition (a single enlarged parietal foramen). In combination with developmental and degenerative abnormalities in other Pleistocene human remains, it suggests demographic and survival patterns among Pleistocene Homo that led to an elevated frequency of conditions unknown or rare among recent humans.

An enlarged parietal foramen in the late archaic Xujiayao 11 neurocranium from Northern China, and rare anomalies among Pleistocene Homo.

Directory of Open Access Journals (Sweden)

Xiu-Jie Wu

Full Text Available We report here a neurocranial abnormality previously undescribed in Pleistocene human fossils, an enlarged parietal foramen (EPF in the early Late Pleistocene Xujiayao 11 parietal bones from the Xujiayao (Houjiayao site, northern China. Xujiayao 11 is a pair of partial posteromedial parietal bones from an adult. It exhibits thick cranial vault bones, arachnoid granulations, a deviated posterior sagittal suture, and a unilateral (right parietal lacuna with a posteriorly-directed and enlarged endocranial vascular sulcus. Differential diagnosis indicates that the perforation is a congenital defect, an enlarged parietal foramen, commonly associated with cerebral venous and cranial vault anomalies. It was not lethal given the individual's age-at-death, but it may have been associated with secondary neurological deficiencies. The fossil constitutes the oldest evidence in human evolution of this very rare condition (a single enlarged parietal foramen. In combination with developmental and degenerative abnormalities in other Pleistocene human remains, it suggests demographic and survival patterns among Pleistocene Homo that led to an elevated frequency of conditions unknown or rare among recent humans.

Holonomy anomalies

International Nuclear Information System (INIS)

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

1985-05-01

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

Anomalies

International Nuclear Information System (INIS)

Bardeen, W.A.

1985-08-01

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

Isolated absence of the septum pellucidum

International Nuclear Information System (INIS)

Supprian, T.; Sian, J.; Heils, A.; Hofmann, E.; Warmuth-Metz, M.; Solymosi, L.

1999-01-01

Absence of the septum pellucidum in the human is a rare congenital anomaly. Previous reports suggest it is almost always associated with other brain anomalies. However, MRI in two patients with absence of the septum pellucidum presented here, indicates that this anomaly may occur without associated anomalies. It may be one manifestation of a spectrum of developmental anomalies. One patient presented with schizophrenic psychosis; developmental disturbances in limbic areas are believed to be associated with schizophrenia. Agenesis of the septum pellucidum may indicate abnormal development of limbic structures and it may be associated with anomalies, such as cytoarchitectural disturbances of cortical layers, as yet undetectable by MRI. (orig.)

Developmental abnormalities of the optic nerve head in mouse fetuses caused by simultaneous irradiation of x-rays and ultrasound

International Nuclear Information System (INIS)

Shirai, Shoichiro; Yuguchi, Shuji; Majima, Akio.

1981-01-01

Eye abnormalities in mouse fetuses caused by irradiation of X-rays alone, or simultaneous irradiation of X-rays and ultrasound on day 7 of gestation were histologically studied on day 18 of gestation. Developmental abnormalities of the optic nerve head were examined in the present experiment, and the following results were obtained: 1. Developmental abnormalities of the optic nerve head associated with developmental abnormalities of the vitreous were detected in 4 fetuses (5 eyes). In all cases, excessive mesenchymal tissue of components of the primary vitreous was found from the optic nerve head to the vitreous cavity. It was impossible to distinguish between the neuroectodermal tissue of Bergmeister's papilla and the mesodermal tissue of components of the primary vitreous. 2. In 3 fetuses (4 eyes), the fetal fissure involving the optic nerve head was open. At the peripapillary region, the inner layer of the optic cup was everted and hyperplastic. The inner neuroblastic layer of the everted portion contacted the outer coat of the eyeball, directly. In these cases, the optic nerve entrance was very wide. 3. The relation between the congenital optic nerve head anomalies encountered clinically and those observed experimentally in the mouse fetuses was discussed. It was considered that the pathogenesis of congenital optic nerve head anomalies consists of the malformation of the primitive epithelial papilla, the faulty closure of the proximal end of the fetal fissure, the anomalies of Bergmeister's papilla, the anomalies of the hyaloid system, or the abnormal differentiation and growth of the neuroectodermal cells of the optic cup. (author)

Anomaly-free models for flavour anomalies

Science.gov (United States)

Ellis, John; Fairbairn, Malcolm; Tunney, Patrick

2018-03-01

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

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

Science.gov (United States)

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

Concomitant achondroplasia and developmental dysplasia of the hip

OpenAIRE

Malcolm, Tennison L.; Phan, Duy L.; Schwarzkopf, Ran

2015-01-01

Achondroplasia (ACH) is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH) is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and h...

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

Energy Technology Data Exchange (ETDEWEB)

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

1995-06-19

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

Developmental changes in human dopamine neurotransmission: cortical receptors and terminators

Directory of Open Access Journals (Sweden)

Rothmond Debora A

2012-02-01

Full Text Available Abstract Background Dopamine is integral to cognition, learning and memory, and dysfunctions of the frontal cortical dopamine system have been implicated in several developmental neuropsychiatric disorders. The dorsolateral prefrontal cortex (DLPFC is critical for working memory which does not fully mature until the third decade of life. Few studies have reported on the normal development of the dopamine system in human DLPFC during postnatal life. We assessed pre- and postsynaptic components of the dopamine system including tyrosine hydroxylase, the dopamine receptors (D1, D2 short and D2 long isoforms, D4, D5, catechol-O-methyltransferase, and monoamine oxidase (A and B in the developing human DLPFC (6 weeks -50 years. Results Gene expression was first analysed by microarray and then by quantitative real-time PCR. Protein expression was analysed by western blot. Protein levels for tyrosine hydroxylase peaked during the first year of life (p O-methyltransferase (p = 0.024 were significantly higher in neonates and infants as was catechol-O-methyltransferase protein (32 kDa, p = 0.027. In contrast, dopamine D1 receptor mRNA correlated positively with age (p = 0.002 and dopamine D1 receptor protein expression increased throughout development (p Conclusions We find distinct developmental changes in key components of the dopamine system in DLPFC over postnatal life. Those genes that are highly expressed during the first year of postnatal life may influence and orchestrate the early development of cortical neural circuitry while genes portraying a pattern of increasing expression with age may indicate a role in DLPFC maturation and attainment of adult levels of cognitive function.

Human Inspired Self-developmental Model of Neural Network (HIM): Introducing Content/Form Computing

Science.gov (United States)

Krajíček, Jiří

This paper presents cross-disciplinary research between medical/psychological evidence on human abilities and informatics needs to update current models in computer science to support alternative methods for computation and communication. In [10] we have already proposed hypothesis introducing concept of human information model (HIM) as cooperative system. Here we continue on HIM design in detail. In our design, first we introduce Content/Form computing system which is new principle of present methods in evolutionary computing (genetic algorithms, genetic programming). Then we apply this system on HIM (type of artificial neural network) model as basic network self-developmental paradigm. Main inspiration of our natural/human design comes from well known concept of artificial neural networks, medical/psychological evidence and Sheldrake theory of "Nature as Alive" [22].

Isolated absence of the septum pellucidum

Energy Technology Data Exchange (ETDEWEB)

Supprian, T. [Department of Psychiatry, University of Wuerzburg, Fuechsleinstrasse 15, D-97080 Wuerzburg (Germany)]|[Department of Neuroradiology, University of Wuerzburg (Germany); Sian, J.; Heils, A. [Department of Psychiatry, University of Wuerzburg, Fuechsleinstrasse 15, D-97080 Wuerzburg (Germany); Hofmann, E.; Warmuth-Metz, M.; Solymosi, L. [Department of Neuroradiology, University of Wuerzburg (Germany)

1999-08-01

Absence of the septum pellucidum in the human is a rare congenital anomaly. Previous reports suggest it is almost always associated with other brain anomalies. However, MRI in two patients with absence of the septum pellucidum presented here, indicates that this anomaly may occur without associated anomalies. It may be one manifestation of a spectrum of developmental anomalies. One patient presented with schizophrenic psychosis; developmental disturbances in limbic areas are believed to be associated with schizophrenia. Agenesis of the septum pellucidum may indicate abnormal development of limbic structures and it may be associated with anomalies, such as cytoarchitectural disturbances of cortical layers, as yet undetectable by MRI. (orig.) With 1 fig., 19 refs.

Development of Mentalizing and Communication: From Viewpoint of Developmental Cybernetics and Developmental Cognitive Neuroscience

Science.gov (United States)

Itakura, Shoji

The ability to mentalize is essential for human socialization. Such ability is strongly related to communication. In this paper, I discuss the development of mentalizing and communication from the perspectives of a new idea, Developmental Cybernetics, and developmental cognitive neuroscience. Children only attributed intention to a robot when they saw it behaving as a human and displaying social signals such as eye gaze. The emergence of powerful new methods and tools, such as neuroimaging, now allows questions about mentalizing to resolved more directly than before.

Venous anomalies and abnormalities of the posterior fossa

International Nuclear Information System (INIS)

Goulao, A.; Alvarez, H.; Garcia Monaco, R.; Pruvost, P.; Lasjaunias, P.

1990-01-01

The authors report a series of 16 patients with venous anomalies or abnormalities of the posterior fossa studied by angiography, CT and/or MRI. We believe that so-called 'venous angioma' are extreme anatomic variants that drain normal territories, and we prefer to call them developmental venous anomalies (DVA). Posterior fossa DVA, like the supra-tentorial ones are classified according to their drainage into deep and superficial type. They are exclusively located in the cerebellum or tectum. In 4 cases DVA was an incidental finding, in 3 an associated cerebral venous malformation (CVM) was found and felt to be the cause of the symptoms and only in one (Trigeminal pain) was a link between both suspected. Cavernous venous malformation (CVM) were found in frequent association with DVA (27%). 4 cases were single and 2 multiple. 5 CVM were located in the brain stem and 3 in the cerebellum. The clinical and radiological files were reviewed and a direct relationship between symptoms and localization was found in all patients with CVM. In 2 cases venous dysplasia was found: 1 Sturge-Weber and 1 First branchial arch syndrome. Both posterior fossa venous abnormalities were incidental findings. (orig.)

Induced pluripotent stem cell-derived neuron as a human model for testing environmentally induced developmental neurotoxicity

Science.gov (United States)

Induced pluripotent stem cell-derived neurons as a human model for testing environmentally induced developmental neurotoxicity Ingrid L. Druwe1, Timothy J. Shafer2, Kathleen Wallace2, Pablo Valdivia3 ,and William R. Mundy2. 1University of North Carolina, Curriculum in Toxicology...

Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

DEFF Research Database (Denmark)

Hamoudi, Hassan; Rudnick, Jens-Christian; Prause, Jan Ulrik

2013-01-01

remnant of the hyaloid artery. The male had hydrocephalus and thus some of the features of Peters' plus syndrome (Peters' anomaly in addition to systemic malformations). The histological findings in the eyes of these snow leopard siblings are identical with those described in humans with Peters' anomaly....

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

Science.gov (United States)

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.

Dinosaurs, Chameleons, Humans, and Evo-Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of "Monsters," and Goldschmidt Hopeful "Monsters".

Science.gov (United States)

Diogo, Rui; Guinard, Geoffrey; Diaz, Raul E

2017-05-01

Since the rise of evo-devo (evolutionary developmental biology) in the 1980s, few authors have attempted to combine the increasing knowledge obtained from the study of model organisms and human medicine with data from comparative anatomy and evolutionary biology in order to investigate the links between development, pathology, and macroevolution. Fortunately, this situation is slowly changing, with a renewed interest in evolutionary developmental pathology (evo-devo-path) in the past decades, as evidenced by the idea to publish this special, and very timely, issue on "Developmental Evolution in Biomedical Research." As all of us have recently been involved, independently, in works related in some way or another with evolution and developmental anomalies, we decided to join our different perspectives and backgrounds in the present contribution for this special issue. Specifically, we provide a brief historical account on the study of the links between evolution, development, and pathologies, followed by a review of the recent work done by each of us, and then by a general discussion on the broader developmental and macroevolutionary implications of our studies and works recently done by other authors. Our primary aims are to highlight the strength of studying developmental anomalies within an evolutionary framework to understand morphological diversity and disease by connecting the recent work done by us and others with the research done and broader ideas proposed by authors such as Étienne Geoffroy Saint-Hilaire, Waddington, Goldschmidt, Gould, and Per Alberch, among many others to pave the way for further and much needed work regarding abnormal development and macroevolution. © 2016 Wiley Periodicals, Inc.

Bisphenol A and congenital developmental defects in humans

Energy Technology Data Exchange (ETDEWEB)

Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

2015-04-15

Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

Bisphenol A and congenital developmental defects in humans

International Nuclear Information System (INIS)

Guida, Maurizio; Troisi, Jacopo; Ciccone, Carla; Granozio, Giovanni; Cosimato, Cosimo; Sardo, Attilio Di Spiezio; Ferrara, Cinzia; Guida, Marco; Nappi, Carmine; Zullo, Fulvio; Di Carlo, Costantino

2015-01-01

Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls

Global gravitational anomalies

International Nuclear Information System (INIS)

Witten, E.

1985-01-01

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

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

Science.gov (United States)

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.

Basal encephalocele in an adult patient presenting with minor anomalies: a case report

Science.gov (United States)

2014-01-01

Introduction Basal encephalocele is rare in adults. Congenital and acquired cases have been reported with regard to the developmental mechanism, and the pathology has not been elucidated in detail. Case presentation We encountered an adult with basal encephalocele strongly suggesting congenital development because of the presence of minor anomalies: strabismus and ocular hypertelorism. The disease manifested as persistent spontaneous cerebrospinal fluid rhinorrhea and repeated meningitis in a 66-year-old Japanese man. On computed tomography, brain tissue protruded through a part of the ethmoid bone of his right anterior skull base, and it was diagnosed as transethmoidal-type basal encephalocele. Regarding his facial form, the distance between his bilateral eyeballs was large compared to his facial width, and his canthal index (defined as inner to outer inter canthal ratio × 100) was calculated as 38.5, based on which it was judged as ocular hypertelorism. In addition, his right eyeball showed strabismus. A right frontotemporal craniotomy was performed for spontaneous cerebrospinal fluid rhinorrhea, and the defective dura mater region was patched with temporal fascia. Conclusions Mild minor anomalies that require no treatment are overlooked in adults, but the presence of several anomalies increases the possibility of congenital disease. Therefore, it may be necessary to examine minor anomalies in cases of adult basal encephalocele when considering the possibility that the disease may be congenital. PMID:24468320

Kohn anomalies in superconductors

International Nuclear Information System (INIS)

Flatte, M.E.

1994-01-01

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

Do retractile testes have anatomical anomalies?

Science.gov (United States)

Anderson, Kleber M.; Costa, Suelen F.; Sampaio, Francisco J.B.; Favorito, Luciano A.

2016-01-01

ABSTRACT Objectives: To assess the incidence of anatomical anomalies in patients with retractile testis. Materials and Methods: We studied prospectively 20 patients (28 testes) with truly retractile testis and compared them with 25 human fetuses (50 testes) with testis in scrotal position. We analyzed the relations among the testis, epididymis and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis, we used a previous classification according to epididymis attachment to the testis and the presence of epididymis atresia. To analyze the structure of the PV, we considered two situations: obliteration of the PV and patency of the PV. We used the Chi-square test for contingency analysis of the populations under study (p patent processus vaginalis and epididymal anomalies. PMID:27564294

Introduction to anomalies

International Nuclear Information System (INIS)

Alvarez-Gaume, L.

1986-01-01

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

Algebraic structure of chiral anomalies

International Nuclear Information System (INIS)

Stora, R.

1985-09-01

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

Chiral anomalies and differential geometry

International Nuclear Information System (INIS)

Zumino, B.

1983-10-01

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

Tracheobronchial Branching Anomalies

International Nuclear Information System (INIS)

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

2010-01-01

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

Tracheobronchial Branching Anomalies

Energy Technology Data Exchange (ETDEWEB)

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

2010-04-15

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

Branchial anomalies in children.

Science.gov (United States)

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

2011-08-01

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

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

OpenAIRE

Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

2016-01-01

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

Identifying developmental toxicity pathways for a subset of ToxCast chemicals using human embryonic stem cells and metabolomics

Energy Technology Data Exchange (ETDEWEB)

Kleinstreuer, N.C., E-mail: kleinstreuer.nicole@epa.gov [NCCT, US EPA, RTP, NC 27711 (United States); Smith, A.M.; West, P.R.; Conard, K.R.; Fontaine, B.R. [Stemina Biomarker Discovery, Inc., Madison, WI 53719 (United States); Weir-Hauptman, A.M. [Covance, Inc., Madison, WI 53704 (United States); Palmer, J.A. [Stemina Biomarker Discovery, Inc., Madison, WI 53719 (United States); Knudsen, T.B.; Dix, D.J. [NCCT, US EPA, RTP, NC 27711 (United States); Donley, E.L.R. [Stemina Biomarker Discovery, Inc., Madison, WI 53719 (United States); Cezar, G.G. [Stemina Biomarker Discovery, Inc., Madison, WI 53719 (United States); University of Wisconsin-Madison, Madison, WI 53706 (United States)

2011-11-15

Metabolomics analysis was performed on the supernatant of human embryonic stem (hES) cell cultures exposed to a blinded subset of 11 chemicals selected from the chemical library of EPA's ToxCast Trade-Mark-Sign chemical screening and prioritization research project. Metabolites from hES cultures were evaluated for known and novel signatures that may be indicative of developmental toxicity. Significant fold changes in endogenous metabolites were detected for 83 putatively annotated mass features in response to the subset of ToxCast chemicals. The annotations were mapped to specific human metabolic pathways. This revealed strong effects on pathways for nicotinate and nicotinamide metabolism, pantothenate and CoA biosynthesis, glutathione metabolism, and arginine and proline metabolism pathways. Predictivity for adverse outcomes in mammalian prenatal developmental toxicity studies used ToxRefDB and other sources of information, including Stemina Biomarker Discovery's predictive DevTox Registered-Sign model trained on 23 pharmaceutical agents of known developmental toxicity and differing potency. The model initially predicted developmental toxicity from the blinded ToxCast compounds in concordance with animal data with 73% accuracy. Retraining the model with data from the unblinded test compounds at one concentration level increased the predictive accuracy for the remaining concentrations to 83%. These preliminary results on a 11-chemical subset of the ToxCast chemical library indicate that metabolomics analysis of the hES secretome provides information valuable for predictive modeling and mechanistic understanding of mammalian developmental toxicity. -- Highlights: Black-Right-Pointing-Pointer We tested 11 environmental compounds in a hESC metabolomics platform. Black-Right-Pointing-Pointer Significant changes in secreted small molecule metabolites were observed. Black-Right-Pointing-Pointer Perturbed mass features map to pathways critical for normal

Identifying developmental toxicity pathways for a subset of ToxCast chemicals using human embryonic stem cells and metabolomics

International Nuclear Information System (INIS)

Kleinstreuer, N.C.; Smith, A.M.; West, P.R.; Conard, K.R.; Fontaine, B.R.; Weir-Hauptman, A.M.; Palmer, J.A.; Knudsen, T.B.; Dix, D.J.; Donley, E.L.R.; Cezar, G.G.

2011-01-01

Metabolomics analysis was performed on the supernatant of human embryonic stem (hES) cell cultures exposed to a blinded subset of 11 chemicals selected from the chemical library of EPA's ToxCast™ chemical screening and prioritization research project. Metabolites from hES cultures were evaluated for known and novel signatures that may be indicative of developmental toxicity. Significant fold changes in endogenous metabolites were detected for 83 putatively annotated mass features in response to the subset of ToxCast chemicals. The annotations were mapped to specific human metabolic pathways. This revealed strong effects on pathways for nicotinate and nicotinamide metabolism, pantothenate and CoA biosynthesis, glutathione metabolism, and arginine and proline metabolism pathways. Predictivity for adverse outcomes in mammalian prenatal developmental toxicity studies used ToxRefDB and other sources of information, including Stemina Biomarker Discovery's predictive DevTox® model trained on 23 pharmaceutical agents of known developmental toxicity and differing potency. The model initially predicted developmental toxicity from the blinded ToxCast compounds in concordance with animal data with 73% accuracy. Retraining the model with data from the unblinded test compounds at one concentration level increased the predictive accuracy for the remaining concentrations to 83%. These preliminary results on a 11-chemical subset of the ToxCast chemical library indicate that metabolomics analysis of the hES secretome provides information valuable for predictive modeling and mechanistic understanding of mammalian developmental toxicity. -- Highlights: ► We tested 11 environmental compounds in a hESC metabolomics platform. ► Significant changes in secreted small molecule metabolites were observed. ► Perturbed mass features map to pathways critical for normal development and pregnancy. ► Arginine, proline, nicotinate, nicotinamide and glutathione pathways were affected.

Building a developmental toxicity ontology.

Science.gov (United States)

Baker, Nancy; Boobis, Alan; Burgoon, Lyle; Carney, Edward; Currie, Richard; Fritsche, Ellen; Knudsen, Thomas; Laffont, Madeleine; Piersma, Aldert H; Poole, Alan; Schneider, Steffen; Daston, George

2018-04-03

As more information is generated about modes of action for developmental toxicity and more data are generated using high-throughput and high-content technologies, it is becoming necessary to organize that information. This report discussed the need for a systematic representation of knowledge about developmental toxicity (i.e., an ontology) and proposes a method to build one based on knowledge of developmental biology and mode of action/ adverse outcome pathways in developmental toxicity. This report is the result of a consensus working group developing a plan to create an ontology for developmental toxicity that spans multiple levels of biological organization. This report provide a description of some of the challenges in building a developmental toxicity ontology and outlines a proposed methodology to meet those challenges. As the ontology is built on currently available web-based resources, a review of these resources is provided. Case studies on one of the most well-understood morphogens and developmental toxicants, retinoic acid, are presented as examples of how such an ontology might be developed. This report outlines an approach to construct a developmental toxicity ontology. Such an ontology will facilitate computer-based prediction of substances likely to induce human developmental toxicity. © 2018 Wiley Periodicals, Inc.

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

Science.gov (United States)

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

1980-10-01

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

Differences between NMRI and DBA/2J mice in the development of somites and susceptibility to methylnitrosourea-induced skeleton anomalies

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IBRAHIM CHAHOUD

Full Text Available ABSTRACT The development of DBA/2J mouse strain embryos is nearly 12 h - or 6 somite pairs - delayed as compared to the outbred NMRI mouse embryos of the same age on gestation days (GD 8-12. To evaluate inter-strain differences in susceptibility to teratogens, dams were treated with methylnitrosourea (MNU, 5 mg/kg body weight i.p. on defined gestation days (NMRI: GD 9, 91/2 or 10; DBA/2J: GD 10 or 101/2. Skeletal anomalies produced by MNU on both mouse strains varied with the GD of treatment. The pattern of anomalies produced by MNU on a given GD markedly differed between the two mouse strains, yet they were similar -with a few exceptions- when exposures at equivalent embryonic stages are compared. Findings from this study indicated that strain-dependent differences in the developmental stage of mouse embryos of the same gestational age occur, a possibility that has been often neglected when inter-strain differences in susceptibility to developmental toxicants are interpreted.

Human implantation: the last barrier in assisted reproduction technologies?

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Edwards, Robert G

2006-12-01

Implantation processes are highly complex involving the actions of numerous hormones, immunoglobulins, cytokines and other factors in the endometrium. They are also essential matters for the success of assisted reproduction. The nature of early embryonic development is of equal significance. It involves ovarian follicle growth, ovulation, fertilization and preimplantation growth. These processes are affected by imbalanced chromosomal constitutions or slow developmental periods. Post-implantation death is also a significant factor in cases of placental insufficiency or recurrent abortion. Clearly, many of these matters can significantly affect birth rates. This review is concerned primarily with the oocyte, the early embryo and its chromosomal anomalies, and the nature of factors involved in implantation. These are clearly among the most important features in determining successful embryonic and fetal growth. Successive sections cover the endocrine stimulation of follicle growth in mice and humans, growth of human embryos in vitro, their apposition and attachment to the uterus, factors involved in embryo attachment to uterine epithelium and later stages of implantation, and understanding the gene control of polarities and other aspects of preimplantation embryo differentiation. New aspects of knowledge include the use of human oocyte maturation in vitro as an approach to simpler forms of IVF, and new concepts in developmental genetics.

Differentiating human NT2/D1 neurospheres as a versatile in vitro 3D model system for developmental neurotoxicity testing

International Nuclear Information System (INIS)

Hill, E.J.; Woehrling, E.K.; Prince, M.; Coleman, M.D.

2008-01-01

Developmental neurotoxicity is a major issue in human health and may have lasting neurological implications. In this preliminary study we exposed differentiating Ntera2/clone D1 (NT2/D1) cell neurospheres to known human teratogens classed as non-embryotoxic (acrylamide), weakly embryotoxic (lithium, valproic acid) and strongly embryotoxic (hydroxyurea) as listed by European Centre for the Validation of Alternative Methods (ECVAM) and examined endpoints of cell viability and neuronal protein marker expression specific to the central nervous system, to identify developmental neurotoxins. Following induction of neuronal differentiation, valproic acid had the most significant effect on neurogenesis, in terms of reduced viability and decreased neuronal markers. Lithium had least effect on viability and did not significantly alter the expression of neuronal markers. Hydroxyurea significantly reduced cell viability but did not affect neuronal protein marker expression. Acrylamide reduced neurosphere viability but did not affect neuronal protein marker expression. Overall, this NT2/D1-based neurosphere model of neurogenesis, may provide the basis for a model of developmental neurotoxicity in vitro

Rethinking developmental toxicity testing: Evolution or revolution?

NARCIS (Netherlands)

Scialli, Anthony R; Daston, George; Chen, Connie; Coder, Prägati S; Euling, Susan Y; Foreman, Jennifer; Hoberman, Alan M; Hui, Julia; Knudsen, Thomas; Makris, Susan L; Morford, LaRonda; Piersma, Aldert H; Stanislaus, Dinesh; Thompson, Kary E

2018-01-01

Current developmental toxicity testing adheres largely to protocols suggested in 1966 involving the administration of test compound to pregnant laboratory animals. After more than 50 years of embryo-fetal development testing, are we ready to consider a different approach to human developmental

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

Science.gov (United States)

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.

Developmental potential of human oocytes reconstructed by transferring somatic cell nuclei into polyspermic zygote cytoplasm

International Nuclear Information System (INIS)

Fan, Yong; Chen, Xinjie; Luo, Yumei; Chen, Xiaolin; Li, Shaoying; Huang, Yulin; Sun, Xiaofang

2009-01-01

The generation of patient-specific nuclear transfer embryonic stem cells holds huge promise in modern regenerative medicine and cell-based drug discovery. Since human in vivo matured oocytes are not readily available, human therapeutic cloning is developing slowly. Here, we investigated for the first time whether human polyspermic zygotes could support preimplantation development of cloned embryos. Our results showed that polyspermic zygotes could be used as recipients for human somatic cell nuclear transfer (SCNT). The preimplantation developmental potential of SCNT embryos from polyspermic zygotes was limited to the 8-cell stage. Since ES cell lines can be derived from single blastomeres, these results may have important significance for human ES cells derived by SCNT. In addition, confocal images demonstrated that all of the SCNT embryos that failed to cleave showed abnormal microtubule organization. The results of the present study suggest that polyspermic human zygotes could be used as a potential source of recipient cytoplasm for SCNT.

Developmental potential of human oocytes reconstructed by transferring somatic cell nuclei into polyspermic zygote cytoplasm

Energy Technology Data Exchange (ETDEWEB)

Fan, Yong; Chen, Xinjie; Luo, Yumei; Chen, Xiaolin; Li, Shaoying; Huang, Yulin [Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Duobao Road 63, Guangzhou, Guangdong (China); Sun, Xiaofang, E-mail: xiaofangsun@hotmail.com [Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Duobao Road 63, Guangzhou, Guangdong (China)

2009-04-24

The generation of patient-specific nuclear transfer embryonic stem cells holds huge promise in modern regenerative medicine and cell-based drug discovery. Since human in vivo matured oocytes are not readily available, human therapeutic cloning is developing slowly. Here, we investigated for the first time whether human polyspermic zygotes could support preimplantation development of cloned embryos. Our results showed that polyspermic zygotes could be used as recipients for human somatic cell nuclear transfer (SCNT). The preimplantation developmental potential of SCNT embryos from polyspermic zygotes was limited to the 8-cell stage. Since ES cell lines can be derived from single blastomeres, these results may have important significance for human ES cells derived by SCNT. In addition, confocal images demonstrated that all of the SCNT embryos that failed to cleave showed abnormal microtubule organization. The results of the present study suggest that polyspermic human zygotes could be used as a potential source of recipient cytoplasm for SCNT.

Applying Evolutionary Genetics to Developmental Toxicology and Risk Assessment

Science.gov (United States)

Leung, Maxwell C. K.; Procter, Andrew C.; Goldstone, Jared V.; Foox, Jonathan; DeSalle, Robert; Mattingly, Carolyn J.; Siddall, Mark E.; Timme-Laragy, Alicia R.

2018-01-01

Evolutionary thinking continues to challenge our views on health and disease. Yet, there is a communication gap between evolutionary biologists and toxicologists in recognizing the connections among developmental pathways, high-throughput screening, and birth defects in humans. To increase our capability in identifying potential developmental toxicants in humans, we propose to apply evolutionary genetics to improve the experimental design and data interpretation with various in vitro and whole-organism models. We review five molecular systems of stress response and update 18 consensual cell-cell signaling pathways that are the hallmark for early development, organogenesis, and differentiation; and revisit the principles of teratology in light of recent advances in high-throughput screening, big data techniques, and systems toxicology. Multiscale systems modeling plays an integral role in the evolutionary approach to cross-species extrapolation. Phylogenetic analysis and comparative bioinformatics are both valuable tools in identifying and validating the molecular initiating events that account for adverse developmental outcomes in humans. The discordance of susceptibility between test species and humans (ontogeny) reflects their differences in evolutionary history (phylogeny). This synthesis not only can lead to novel applications in developmental toxicity and risk assessment, but also can pave the way for applying an evo-devo perspective to the study of developmental origins of health and disease. PMID:28267574

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

Directory of Open Access Journals (Sweden)

Feilong Qin

2016-01-01

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

NF-Y recruits both transcription activator and repressor to modulate tissue- and developmental stage-specific expression of human γ-globin gene.

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Xingguo Zhu

Full Text Available The human embryonic, fetal and adult β-like globin genes provide a paradigm for tissue- and developmental stage-specific gene regulation. The fetal γ-globin gene is expressed in fetal erythroid cells but is repressed in adult erythroid cells. The molecular mechanism underlying this transcriptional switch during erythroid development is not completely understood. Here, we used a combination of in vitro and in vivo assays to dissect the molecular assemblies of the active and the repressed proximal γ-globin promoter complexes in K562 human erythroleukemia cell line and primary human fetal and adult erythroid cells. We found that the proximal γ-globin promoter complex is assembled by a developmentally regulated, general transcription activator NF-Y bound strongly at the tandem CCAAT motifs near the TATA box. NF-Y recruits to neighboring DNA motifs the developmentally regulated, erythroid transcription activator GATA-2 and general repressor BCL11A, which in turn recruit erythroid repressor GATA-1 and general repressor COUP-TFII to form respectively the NF-Y/GATA-2 transcription activator hub and the BCL11A/COUP-TFII/GATA-1 transcription repressor hub. Both the activator and the repressor hubs are present in both the active and the repressed γ-globin promoter complexes in fetal and adult erythroid cells. Through changes in their levels and respective interactions with the co-activators and co-repressors during erythroid development, the activator and the repressor hubs modulate erythroid- and developmental stage-specific transcription of γ-globin gene.

Distally displaced premolars: A dental anomaly associated with palatally displaced canines.

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Baccetti, Tiziano; Leonardi, Maria; Giuntini, Veronica

2010-09-01

The aim of this study was to evaluate the significance of association between distally displaced premolars (DDP) and palatally displaced canines (PDC) in the pattern of associated phenotypes of dental developmental disturbance. A sample of 2811 subjects (mean age, 9 years 7 months +/- 1 year 3 months) was divided randomly into 2 groups. The first group of 500 subjects was the control group. The reference prevalence rates for the examined parameters were calculated for this group: DDP (measured with the distal angle theta and the premolar-molar angle gamma); PDC; and other dental anomalies, specifically, aplasia of the third molars, aplasia of the contralateral mandibular second premolar, aplasia of the maxillary lateral incisors, and small maxillary lateral incisors. Of the remaining 2311 subjects, the first 100 with a diagnosis of DDP of at least 1 mandibular second premolar comprised experimental group 1 (DDP group). In addition to sex distribution, the same variables that were examined in the control group were analyzed. In the subgroup with the concurrent DDP and PDC (experimental group 2, or DDP-PDC group), the presence of other dental anomalies was investigated. The prevalence rate for PDC in experimental group 1 was compared with that in the control group. The same was done for the prevalence rates for the 4 other dental anomalies in the PDC-DDP group (experimental group 2) vs the prevalence rates for these anomalies in the control group. All comparisons were performed with chi-square tests with the Yates correction (P <0.05), as were the comparisons between the sexes in experimental groups 1 and 2. The values for theta and gamma angles in experimental group 1 were compared with the values for these angles in experimental group 2, as well as with those in the control group. These statistical comparisons were made with analysis of variance (ANOVA) with the Bonferroni post-hoc test (P <0.05). The prevalence rate for PDC in experimental group 1 (28%) was

Human Brain inspired Artificial Intelligence & Developmental Robotics: A Review

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Suresh Kumar

2017-06-01

Full Text Available Along with the developments in the field of the robotics, fascinating contributions and developments can be seen in the field of Artificial intelligence (AI. In this paper we will discuss about the developments is the field of artificial intelligence focusing learning algorithms inspired from the field of Biology, particularly large scale brain simulations, and developmental Psychology. We will focus on the emergence of the Developmental robotics and its significance in the field of AI.

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

Science.gov (United States)

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

2011-06-01

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

Radiologic analysis of congenital limb anomalies

International Nuclear Information System (INIS)

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

1994-01-01

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

NTP-CERHR monograph on the potential human reproductive and developmental effects of hydroxyurea.

Science.gov (United States)

2008-10-01

The National Toxicology Program (NTP) Center for the Evaluation of Risks to Human Reproduction (CERHR) conducted an evaluation of the potential for hydroxyurea to cause adverse effects on reproduction and development in humans. Hydroxyurea is a drug used to treat cancer, sickle cell disease, and thalassemia. It is the only treatment for sickle cell disease in children, aside from blood transfusion and, in severe cases, hematopoietic stem cell transplantation. Hydroxyurea is FDA-approved for use in adults with sickle cell anemia to reduce the frequency of painful crises and the need for blood transfusions. Hydroxyurea may be given to children and adults with sickle cell disease for an extended period of time or for repeated cycles of therapy. Treatment with hydroxyurea is associated with known side effects such as cytotoxicity and myelosuppression, and hydroxyurea is genotoxic (can damage DNA). CERHR selected hydroxyurea for evaluation because of: its increasing use for treatment of sickle cell disease in children and adults, knowledge that it inhibits DNA synthesis and is cytotoxic, and published evidence of reproductive and developmental toxicity in rodents. The results of this evaluation are published in the NTP-CERHR Monograph on Hydroxyurea, which includes the NTP Brief and Expert Panel Report on the Reproductive and Developmental Toxicity of Hydroxyurea. Additional information related to the evaluation process, including public comments received on the draft NTP Brief and the final expert panel report, are available on the CERHR website (http:// cerhr.niehs.nih.gov/). See hydroxyurea under "CERHR Chemicals" on the homepage or go directly to http://cerhr.niehs.nih.gov/chemicals/hydroxyurea/hydroxyurea-eval.html). The NTP reached the following conclusions on the possible effects of exposure to hydroxyurea on human reproduction or development. The possible levels of concern, from lowest to highest, are negligible concern, minimal concern, some concern, concern

Face cognition in humans: Psychophysiological, developmental, and cross-cultural aspects

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Chernorizov A. M.

2016-12-01

Full Text Available Investigators are finding increasing evidence for cross-cultural specificity in face cognition along with individual characteristics. The functions on which face cognition is based not only are types of general cognitive functions (perception, memory but are elements of specific mental processes. Face perception, memorization, correct recognition of faces, and understanding the information that faces provide are essential skills for humans as a social species and can be considered as facets of social (cultural intelligence. Face cognition is a difficult, multifaceted set of processes. The systems and processes involved in perceiving and recognizing faces are captured by several models focusing on the pertinent functions or including the presumably underlying neuroanatomical substrates. Thus, the study of face-cognition mechanisms is a cross-disciplinary topic. In Russia, Germany, and China there are plans to organize an interdisciplinary crosscultural study of face cognition. The first step of this scientific interaction is conducting psychological and psychophysiological studies of face cognition in multinational Russia within the frame of a grant supported by the Russian Science Foundation and devoted to “cross-cultural tolerance”. For that reason and in the presence of the huge diversity of data concerning face cognition, we suggest for discussion, specifically within the psychological scientific community, three aspects of face cognition: (1 psychophysiological (quantitative data, (2 developmental (qualitative data from developmental psychology, and (3 cross-cultural (qualitative data from cross-cultural studies. These three aspects reflect the different levels of investigations and constitute a comprehensive, multilateral approach to the problem. Unfortunately, as a rule, neuropsychological and psychological investigations are carried out independently of each other. However, for the purposes of our overview here, we assume that the

The Holographic Weyl anomaly

CERN Document Server

Henningson, M; Henningson, Mans; Skenderis, Kostas

1998-01-01

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

Ontogeny and social dominance: a developmental view of human power patterns.

Science.gov (United States)

Hawley, Patricia H

2014-04-29

Developmental science has long evolutionary roots and has historically focused on individual differences. Accordingly, developmental models can inform conversations about phylogeny and personality. The present paper evokes life history theory to describe a theoretical model of competitive behavior that applies to both children and adults (resource control theory: RCT). The model suggests that prosocial and coercive behavior, though different in manifest form, serve similar evolutionary functions. Accordingly, RCT presents a view on social dominance that gives primacy to function over form that contrasts sharply from traditional views. This reformulation gives rise to novel questions (both developmental and non-developmental) and challenges long accepted views on prosociality (e.g., that it is altruistic) and aggression (e.g., that it is maladaptive). Similarly, RCT gives rise to a minority perspective that aligns aggression with social competence.

MAGSAT anomaly map and continental drift

Science.gov (United States)

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

1981-01-01

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

Developmental regulation of human truncated nerve growth factor receptor

Energy Technology Data Exchange (ETDEWEB)

DiStefano, P.S.; Clagett-Dame, M.; Chelsea, D.M.; Loy, R. (Abbott Laboratories, Abbott Park, IL (USA))

1991-01-01

Monoclonal antibodies (designated XIF1 and IIIG5) recognizing distinct epitopes of the human truncated nerve growth factor receptor (NGF-Rt) were used in a two-site radiometric immunosorbent assay to monitor levels of NGF-Rt in human urine as a function of age. Urine samples were collected from 70 neurologically normal subjects ranging in age from 1 month to 68 years. By using this sensitive two-site radiometric immunosorbent assay, NGF-Rt levels were found to be highest in urine from 1-month old subjects. By 2.5 months, NGF-Rt values were half of those seen at 1 month and decreased more gradually between 0.5 and 15 years. Between 15 and 68 years, urine NGF-Rt levels were relatively constant at 5% of 1-month values. No evidence for diurnal variation of adult NGF-Rt was apparent. Pregnant women in their third trimester showed significantly elevated urine NGF-Rt values compared with age-matched normals. Affinity labeling of NGF-Rt with 125I-NGF followed by immunoprecipitation with ME20.4-IgG and gel autoradiography indicated that neonatal urine contained high amounts of truncated receptor (Mr = 50 kd); decreasingly lower amounts of NGF-Rt were observed on gel autoradiograms with development, indicating that the two-site radiometric immunosorbent assay correlated well with the affinity labeling technique for measuring NGF-Rt. NGF-Rt in urines from 1-month-old and 36-year-old subjects showed no differences in affinities for NGF or for the monoclonal antibody IIIG5. These data show that NGF-Rt is developmentally regulated in human urine, and are discussed in relation to the development and maturation of the peripheral nervous system.

Developmental regulation of human truncated nerve growth factor receptor

International Nuclear Information System (INIS)

DiStefano, P.S.; Clagett-Dame, M.; Chelsea, D.M.; Loy, R.

1991-01-01

Monoclonal antibodies (designated XIF1 and IIIG5) recognizing distinct epitopes of the human truncated nerve growth factor receptor (NGF-Rt) were used in a two-site radiometric immunosorbent assay to monitor levels of NGF-Rt in human urine as a function of age. Urine samples were collected from 70 neurologically normal subjects ranging in age from 1 month to 68 years. By using this sensitive two-site radiometric immunosorbent assay, NGF-Rt levels were found to be highest in urine from 1-month old subjects. By 2.5 months, NGF-Rt values were half of those seen at 1 month and decreased more gradually between 0.5 and 15 years. Between 15 and 68 years, urine NGF-Rt levels were relatively constant at 5% of 1-month values. No evidence for diurnal variation of adult NGF-Rt was apparent. Pregnant women in their third trimester showed significantly elevated urine NGF-Rt values compared with age-matched normals. Affinity labeling of NGF-Rt with 125I-NGF followed by immunoprecipitation with ME20.4-IgG and gel autoradiography indicated that neonatal urine contained high amounts of truncated receptor (Mr = 50 kd); decreasingly lower amounts of NGF-Rt were observed on gel autoradiograms with development, indicating that the two-site radiometric immunosorbent assay correlated well with the affinity labeling technique for measuring NGF-Rt. NGF-Rt in urines from 1-month-old and 36-year-old subjects showed no differences in affinities for NGF or for the monoclonal antibody IIIG5. These data show that NGF-Rt is developmentally regulated in human urine, and are discussed in relation to the development and maturation of the peripheral nervous system

NTP-CERHR Monograph on the Potential Human Reproductive and Developmental Effects of Di-n-Butyl Phthalate (DBP).

Science.gov (United States)

2003-04-01

TThe National Toxicology Program (NTP) Center for the Evaluation of Risks to Human Reproduction (CERHR) conducted an evaluation of the potential for di-n-butyl phthalate (DBP) to cause adverse effects on reproduction and development in humans. DBP is one of 7 phthalate chemicals evaluated by the NTP CERHR Phthalates Expert Panel. These phthalates were selected for evaluation because of high production volume, extent of human exposures, use in children's products, and/or published evidence of reproductive or developmental toxicity. Unlike many phthalates, DBP is not currently used as a plasticizer in polyvinyl chloride plastics. DBP is a component of latex adhesives and is used in cosmetics and other personal care products, as a plasticizer in cellulose plastics, and as a solvent for dyes. The results of this evaluation on DBP are published in a NTP-CERHR monograph which includes: 1) the NTP Brief, 2) the Expert Panel Report on the Reproductive and Developmental Toxicity of Di-n-Butyl Phthalate, and 3) public comments received on the Expert Panel Report. As stated in the NTP Brief, the NTP reached the following conclusions regarding the possible effects of exposure to DBP on human development and reproduction. First, although DBP could possibly affect human reproduction and development if exposures are sufficiently high, the NTP concludes that there is negligible concern for reproductive toxicity in exposed adults. Second, the NTP concludes that there is minimal concern for developmental effects when pregnant women are exposed to DBP levels estimated by the panel (2-10 mug/kg body weight/day). There is no direct evidence that exposure of people to DBP adversely affects reproduction or development, but studies reviewed by the expert panel show that oral exposure to high doses of DBP (>/=100 mg/kg body weight/day) may adversely affect the prenatal and early postnatal development in rodents. Finally, based on exposure estimates in women of reproductive age, the NTP

Transgenerational developmental programming.

Science.gov (United States)

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

Arsenic in drinking water and congenital heart anomalies in Hungary.

Science.gov (United States)

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

2014-11-01

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

The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field

DEFF Research Database (Denmark)

Mølsted, Kirsten; Boers, Maria; Kjaer, Inger

2010-01-01

. The deviations were mostly in the posterior part of the dorsum sellae. Individuals with VCFS had increased cranial base angles. The results of this study combined with the information in the literature on the main defects in VCFS (palatal abnormalities, cardiac anomalies, thymic hypoplasia or aplasia......, hypothyroidism, and posterior brain abnormality), suggest involvement of a specific developmental field....

Global aspects of gauge anomalies

International Nuclear Information System (INIS)

Zhang, H.

1988-01-01

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

Ontogeny and Social Dominance: A Developmental View of Human Power Patterns

Directory of Open Access Journals (Sweden)

Patricia H. Hawley

2014-04-01

Full Text Available Developmental science has long evolutionary roots and has historically focused on individual differences. Accordingly, developmental models can inform conversations about phylogeny and personality. The present paper evokes life history theory to describe a theoretical model of competitive behavior that applies to both children and adults (resource control theory: RCT. The model suggests that prosocial and coercive behavior, though different in manifest form, serve similar evolutionary functions. Accordingly, RCT presents a view on social dominance that gives primacy to function over form that contrasts sharply from traditional views. This reformulation gives rise to novel questions (both developmental and non-developmental and challenges long accepted views on prosociality (e.g., that it is altruistic and aggression (e.g., that it is maladaptive. Similarly, RCT gives rise to a minority perspective that aligns aggression with social competence.

Let-7 microRNAs are developmentally regulated in circulating human erythroid cells

Directory of Open Access Journals (Sweden)

Reed Christopher

2009-11-01

Full Text Available Abstract Background MicroRNAs are ~22nt-long small non-coding RNAs that negatively regulate protein expression through mRNA degradation or translational repression in eukaryotic cells. Based upon their importance in regulating development and terminal differentiation in model systems, erythrocyte microRNA profiles were examined at birth and in adults to determine if changes in their abundance coincide with the developmental phenomenon of hemoglobin switching. Methods Expression profiling of microRNA was performed using total RNA from four adult peripheral blood samples compared to four cord blood samples after depletion of plasma, platelets, and nucleated cells. Labeled RNAs were hybridized to custom spotted arrays containing 474 human microRNA species (miRBase release 9.1. Total RNA from Epstein-Barr virus (EBV-transformed lymphoblastoid cell lines provided a hybridization reference for all samples to generate microRNA abundance profile for each sample. Results Among 206 detected miRNAs, 79% of the microRNAs were present at equivalent levels in both cord and adult cells. By comparison, 37 microRNAs were up-regulated and 4 microRNAs were down-regulated in adult erythroid cells (fold change > 2; p let-7 miRNA family consistently demonstrated increased abundance in the adult samples by array-based analyses that were confirmed by quantitative PCR (4.5 to 18.4 fold increases in 6 of 8 let-7 miRNA. Profiling studies of messenger RNA (mRNA in these cells additionally demonstrated down-regulation of ten let-7 target genes in the adult cells. Conclusion These data suggest that a consistent pattern of up-regulation among let-7 miRNA in circulating erythroid cells occurs in association with hemoglobin switching during the fetal-to-adult developmental transition in humans.

Imaging diagnosis of accessory and cavitated uterine mass, a rare mullerian anomaly

Directory of Open Access Journals (Sweden)

Nishchint Jain

2014-01-01

Full Text Available Accessory and Cavitated Uterine Mass (ACUM is a rare form of developmental Mullerian anomaly seen in young females, which presents as chronic recurrent pelvic pain and severe dysmenorrhea. It is an accessory cavity lying within an otherwise normal uterus. It is lined by functional endometrium and surrounded by myometrium-like smooth muscle cells; hence, it bears striking macroscopic and microscopic resemblance to the uterus. Hysterosalpingography (HSG, Ultrasonography (USG, and Magnetic Resonance Imaging (MRI form the mainstay of diagnostic imaging. The entity is often under diagnosed; therefore, a high index of suspicion combined with HSG and MRI imaging can help in making an accurate diagnosis.

Imaging diagnosis of accessory and cavitated uterine mass, a rare mullerian anomaly

International Nuclear Information System (INIS)

Jain, Nishchint; Verma, Ritu

2014-01-01

Accessory and Cavitated Uterine Mass (ACUM) is a rare form of developmental Mullerian anomaly seen in young females, which presents as chronic recurrent pelvic pain and severe dysmenorrhea. It is an accessory cavity lying within an otherwise normal uterus. It is lined by functional endometrium and surrounded by myometrium-like smooth muscle cells; hence, it bears striking macroscopic and microscopic resemblance to the uterus. Hysterosalpingography (HSG), Ultrasonography (USG), and Magnetic Resonance Imaging (MRI) form the mainstay of diagnostic imaging. The entity is often under diagnosed; therefore, a high index of suspicion combined with HSG and MRI imaging can help in making an accurate diagnosis

Anomalies on orbifolds

Energy Technology Data Exchange (ETDEWEB)

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

2001-03-16

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

First branchial groove anomaly.

Science.gov (United States)

Kumar, M; Hickey, S; Joseph, G

2000-06-01

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

A Sequential Developmental Field Defect of the Vertebrae, Ribs, and Sternum, in a Young Woman of the 12th Century AD

DEFF Research Database (Denmark)

Christensen, Mette Nørregaard; Usher, Bethany

2000-01-01

Changes in the vertebral column are often noted in skeletal material. Descriptions of these anomalies are often lacking, and their developmental origins are not often discussed. The skeleton of a young woman from the medieval cemetery of Tirup, in Denmark, has multiple defects of the axial skelet...

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

Science.gov (United States)

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.

Developmental and Reproductive Toxicology of Methanol

Science.gov (United States)

Methanol is a high production volume chemical used as a feedstock for chemical syntheses and as a solvent and fuel additive. Methanol is acutely toxic to humans, causing acidosis, blindness in death at high dosages, but its developmental and reproductive toxicity in humans is poo...

Human DNA quantification and sample quality assessment: Developmental validation of the PowerQuant(®) system.

Science.gov (United States)

Ewing, Margaret M; Thompson, Jonelle M; McLaren, Robert S; Purpero, Vincent M; Thomas, Kelli J; Dobrowski, Patricia A; DeGroot, Gretchen A; Romsos, Erica L; Storts, Douglas R

2016-07-01

Quantification of the total amount of human DNA isolated from a forensic evidence item is crucial for DNA normalization prior to short tandem repeat (STR) DNA analysis and a federal quality assurance standard requirement. Previous commercial quantification methods determine the total human DNA and total human male DNA concentrations, but provide limited information about the condition of the DNA sample. The PowerQuant(®) System includes targets for quantification of total human and total human male DNA as well as targets for evaluating whether the human DNA is degraded and/or PCR inhibitors are present in the sample. A developmental validation of the PowerQuant(®) System was completed, following SWGDAM Validation Guidelines, to evaluate the assay's specificity, sensitivity, precision and accuracy, as well as the ability to detect degraded DNA or PCR inhibitors. In addition to the total human DNA and total human male DNA concentrations in a sample, data from the degradation target and internal PCR control (IPC) provide a forensic DNA analyst meaningful information about the quality of the isolated human DNA and the presence of PCR inhibitors in the sample that can be used to determine the most effective workflow and assist downstream interpretation. Copyright © 2016 The Author(s). Published by Elsevier Ireland Ltd.. All rights reserved.

Safety and side effects of ayahuasca in humans--an overview focusing on developmental toxicology.

Science.gov (United States)

dos Santos, Rafael Guimarães

2013-01-01

Despite being relatively well studied from a botanical, chemical, and (acute) pharmacological perspective, little is known about the possible toxic effects of ayahuasca (an hallucinogenic brew used for magico-ritual purposes) in pregnant women and in their children, and the potential toxicity of long-term ayahuasca consumption. It is the main objective of the present text to do an overview of the risks and possible toxic effects of ayahuasca in humans, reviewing studies on the acute ayahuasca administration to humans, on the possible risks associated with long-term consumption by adults and adolescents, and on the possible toxic effects on pregnant animals and in their offspring. Acute ayahuasca administration, as well as long-term consumption of this beverage, does not seem to be seriously toxic to humans. Although some nonhuman developmental studies suggested possible toxic effects of ayahuasca or of some of its alkaloids, the limited human literature on adolescents exposed to ayahuasca as early as in the uterus reports no serious toxic effects of the ritual consumption of the brew. Researchers must take caution when extrapolating nonhuman data to humans and more data are needed in basic and human research before a definite opinion can be made regarding the possible toxic effects of ayahuasca in pregnant women and in their children.

PREVALENCE OF REFRACTIVE ERROR, STRABISMUS AND AMBLYOPIA AMONG CHILDREN WITH NORMAL DEVELOPMENT OR GLOBAL DEVELOPMENTAL DELAY/INTELLECTUAL DISABILITY ATTENDING OPHTHALMOLOGY OPD AT KLES HOSPITAL, BELAGAVI- A RETROSPECTIVE STUDY

Directory of Open Access Journals (Sweden)

Smitha K. S

2017-04-01

Full Text Available BACKGROUND Global developmental delay/intellectual disability are on a rise in children in the present time. Ocular and visual anomalies are frequently associated with it of which refractive errors are the most frequent. This if goes unnoticed leads to strabismus and amblyopia. MATERIALS AND METHODS This study aims to assess the prevalence of refractive error, strabismus and amblyopia among children with normal development or global developmental delay/intellectual disability attending ophthalmology OPD at KLES Hospital, Belagavi. Case records of all 200 new patients less than or equal to 12 years of age group who attended KLES, Dr. Prabhakar Kore Hospital between January 2015 and December 2015 were retrospectively reviewed. RESULTS The male:female ratio was 1.22:1. Out of the total evaluated 200 cases, 130 cases were with normal development and 70 with GDD/ID. Refractive errors were 85%, whereas the cases of amblyopia was 45.50% and strabismus 39.50%. Amblyopia with refractive error having GDD/ID was stastically significant as compared to amblyopia with refractive error having normal development (p=0.001. CONCLUSION Refractive error was the most common ocular disorder seen. Refractive error with amblyopia is more in children with GDD/ID as compared to normal children. Owing to the high percentage of visual anomalies, ophthalmological referral becomes essential in children with developmental anomalies.

Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development.

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Chen Qian

Full Text Available Platelet-derived growth factor receptor alpha (PDGFRα is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spina bifida, rib deformities, and omphalocele in mice. However, it is not clear if deletion of Pdgfra at different embryonic stages differentially affects these structures.To address the temporal requirement of Pdgfra in embryonic development.We have deleted the Pdgfra in Pdgfra-expressing tissues at different embryonic stages in mice, examined and quantified the developmental anomalies.Current study showed that (i conditional deletion of Pdgfra at different embryonic days (between E7.5 and E10.5 resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele, and (ii the day of Pdgfra deletion influenced the combinations, incidence and severities of these anomalies. Deletion of Pdgfra caused apoptosis of Pdgfra-expressing tissues, and developmental defects of their derivatives.Orofacial cleft, spina bifida and omphalocele are among the commonest skeletal and abdominal wall defects of newborns, but their genetic etiologies are largely unknown. The remarkable resemblance of our conditional Pdgfra knockout embryos to theses human congenital anomalies, suggesting that dysregulated PDGFRA expression could cause these anomalies in human. Future work should aim at defining (a the regulatory elements for the expression of the human PDGFRA during embryonic development, and (b if mutations / sequence variations of these regulatory elements cause these anomalies.

Monitoring water supply systems for anomaly detection and response

NARCIS (Netherlands)

Bakker, M.; Lapikas, T.; Tangena, B.H.; Vreeburg, J.H.G.

2012-01-01

Water supply systems are vulnerable to damage caused by unintended or intended human actions, or due to aging of the system. In order to minimize the damages and the inconvenience for the customers, a software tool was developed to detect anomalies at an early stage, and to support the responsible

Space weather and space anomalies

Directory of Open Access Journals (Sweden)

L. I. Dorman

2005-11-01

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

Toward Developmental Connectomics of the Human Brain

OpenAIRE

Cao, Miao; Huang, Hao; Peng, Yun; Dong, Qi; He, Yong

2016-01-01

Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood, and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorder...

Towards Developmental Connectomics of the Human Brain

OpenAIRE

Miao eCao; Hao eHuang; Hao eHuang; Yun ePeng; Qi eDong; Yong eHe

2016-01-01

Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorders...

6d, Coulomb branch anomaly matching

Science.gov (United States)

Intriligator, Kenneth

2014-10-01

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

Human developmental anatomy: microscopic magnetic resonance imaging (μMRI) of four human embryos (from Carnegie Stage 10 to 20).

Science.gov (United States)

Lhuaire, Martin; Martinez, Agathe; Kaplan, Hervé; Nuzillard, Jean-Marc; Renard, Yohann; Tonnelet, Romain; Braun, Marc; Avisse, Claude; Labrousse, Marc

2014-12-01

Technological advances in the field of biological imaging now allow multi-modal studies of human embryo anatomy. The aim of this study was to assess the high magnetic field μMRI feasibility in the study of small human embryos (less than 21mm crown-rump) as a new tool for the study of human descriptive embryology and to determine better sequence characteristics to obtain higher spatial resolution and higher signal/noise ratio. Morphological study of four human embryos belonging to the historical collection of the Department of Anatomy in the Faculty of Medicine of Reims was undertaken by μMRI. These embryos had, successively, crown-rump lengths of 3mm (Carnegie Stage, CS 10), 12mm (CS 16), 17mm (CS 18) and 21mm (CS 20). Acquisition of images was performed using a vertical nuclear magnetic resonance spectrometer, a Bruker Avance III, 500MHz, 11.7T equipped for imaging. All images were acquired using 2D (transverse, sagittal and coronal) and 3D sequences, either T1-weighted or T2-weighted. Spatial resolution between 24 and 70μm/pixel allowed clear visualization of all anatomical structures of the embryos. The study of human embryos μMRI has already been reported in the literature and a few atlases exist for educational purposes. However, to our knowledge, descriptive or morphological studies of human developmental anatomy based on data collected these few μMRI studies of human embryos are rare. This morphological noninvasive imaging method coupled with other techniques already reported seems to offer new perspectives to descriptive studies of human embryology.

Renal anomalies in congenital heart disease

International Nuclear Information System (INIS)

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

1987-01-01

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

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

Science.gov (United States)

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.

Developmental and Reproductive Toxicology Database (DART)

Data.gov (United States)

U.S. Department of Health & Human Services — A bibliographic database on the National Library of Medicine's (NLM) Toxicology Data Network (TOXNET) with references to developmental and reproductive toxicology...

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

Science.gov (United States)

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.

Situs anomalies on prenatal MRI

International Nuclear Information System (INIS)

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

2012-01-01

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

RARE BRANCHIAL ARCH ANOMALIES

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Jayanta Kumar

2016-03-01

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

Algorithms for Anomaly Detection - Lecture 1

CERN Multimedia

CERN. Geneva

2017-01-01

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

Algorithms for Anomaly Detection - Lecture 2

CERN Multimedia

CERN. Geneva

2017-01-01

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

Developmental Trajectory of Number Acuity Reveals a Severe Impairment in Developmental Dyscalculia

Science.gov (United States)

Piazza, Manuela; Facoetti, Andrea; Trussardi, Anna Noemi; Berteletti, Ilaria; Conte, Stefano; Lucangeli, Daniela; Dehaene, Stanisalas; Zorzi, Marco

2010-01-01

Developmental dyscalculia is a learning disability that affects the acquisition of knowledge about numbers and arithmetic. It is widely assumed that numeracy is rooted on the "number sense", a core ability to grasp numerical quantities that humans share with other animals and deploy spontaneously at birth. To probe the links between number sense…

A categorical structure-activity relationship analysis of the developmental toxicity of antithyroid drugs.

Science.gov (United States)

Cunningham, Albert R; Carrasquer, C Alex; Mattison, Donald R

2009-01-01

The choice of therapeutic strategies for hyperthyroidism during pregnancy is limited. Surgery and radioiodine are typically avoided, leaving propylthiouracil and methimazole in the US. Carbimazole, a metabolic precursor of methimazole, is available in some countries outside of the US. In the US propylthiouracil is recommended because of concern about developmental toxicity from methimazole and carbimazole. Despite this recommendation, the data on developmental toxicity of all three agents are extremely limited and insufficient to support a policy given the broad use of methimazole and carbimazole around the world. In the absence of new human or animal data we describe the development of a new structure-activity relationship (SAR) model for developmental toxicity using the cat-SAR expert system. The SAR model was developed from data for 323 compounds evaluated for human developmental toxicity with 130 categorized as developmental toxicants and 193 as nontoxicants. Model cross-validation yielded a concordance between observed and predicted results between 79% to 81%. Based on this model, propylthiouracil, methimazole, and carbimazole were observed to share some structural features relating to human developmental toxicity. Thus given the need to treat women with Graves's disease during pregnancy, new molecules with minimized risk for developmental toxicity are needed. To help meet this challenge, the cat-SAR method would be a useful in screening new drug candidates for developmental toxicity as well as for investigating their mechanism of action.

The Future of the South Atlantic Anomaly and Implications for Radiation Damage in Space

Science.gov (United States)

Heirtzler, J. R.; Smith, David E. (Technical Monitor)

2000-01-01

South Atlantic Anomaly of the geomagnetic field plays a dominant role in where radiation damage occurs in near Earth orbits. The historic and recent variations of the geomagnetic field in the South Atlantic are used to estimate the extent of the South Atlantic Anomaly until the year 2000. This projection indicates that radiation damage to spacecraft and humans in space will greatly increase and cover a much larger geographic area than present.

Experimental study on the operators' cognitive behavior analysis for the plant anomaly diagnosis

International Nuclear Information System (INIS)

Takahashi, Makoto; Kubo, Osamu; Yasuta, Akira

1996-01-01

In this paper, a method of human cognitive state estimation based on physiological measures has been applied to the analysis of cognitive behavior during anomaly diagnosis observed with nuclear power plant simulator. This method has also been combined with the conventional experimental protocol such as operational sequence and questionnaire results. The simulator experiments have been performed using plant experts and the results demonstrate that the cognitive state estimation method can be an effective way for understanding cognitive behavior during the anomaly diagnosis of the nuclear power plant. It has also been shown from the results that the combined use of the human cognitive state estimation and the conventional experimental protocol can provide effective information in decreasing the ambiguity of the analysis results. (author)

Road Anomalies Detection System Evaluation.

Science.gov (United States)

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

2018-06-21

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

Methylmercury and brain development: imprecision and underestimation of developmental neurotoxicity in humans

DEFF Research Database (Denmark)

Grandjean, Philippe; Herz, Katherine T

2011-01-01

Methylmercury is now recognized as an important developmental neurotoxicant, though this insight developed slowly over many decades. Developmental neurotoxicity was first reported in a Swedish case report in 1952, and from a serious outbreak in Minamata, Japan, a few years later. Whereas the infant...

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

Science.gov (United States)

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.

Congenital hand anomalies in Upper Egypt

Directory of Open Access Journals (Sweden)

Tarek Abulezz

2016-01-01

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

Hamiltonian Anomalies from Extended Field Theories

Science.gov (United States)

Monnier, Samuel

2015-09-01

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

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

Science.gov (United States)

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.

Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques.

Science.gov (United States)

Karakülah, Gökhan; Dicle, Oğuz; Koşaner, Ozgün; Suner, Aslı; Birant, Çağdaş Can; Berber, Tolga; Canbek, Sezin

2014-01-01

The lack of laboratory tests for the diagnosis of most of the congenital anomalies renders the physical examination of the case crucial for the diagnosis of the anomaly; and the cases in the diagnostic phase are mostly being evaluated in the light of the literature knowledge. In this respect, for accurate diagnosis, ,it is of great importance to provide the decision maker with decision support by presenting the literature knowledge about a particular case. Here, we demonstrated a methodology for automated scanning and determining of the phenotypic features from the case reports related to congenital anomalies in the literature with text and natural language processing methods, and we created a framework of an information source for a potential diagnostic decision support system for congenital anomalies.

A developmental perspective on the neural bases of human empathy.

Science.gov (United States)

Tousignant, Béatrice; Eugène, Fanny; Jackson, Philip L

2017-08-01

While empathy has been widely studied in philosophical and psychological literatures, recent advances in social neuroscience have shed light on the neural correlates of this complex interpersonal phenomenon. In this review, we provide an overview of brain imaging studies that have investigated the neural substrates of human empathy. Based on existing models of the functional architecture of empathy, we review evidence of the neural underpinnings of each main component, as well as their development from infancy. Although early precursors of affective sharing and self-other distinction appear to be present from birth, recent findings also suggest that even higher-order components of empathy such as perspective-taking and emotion regulation demonstrate signs of development during infancy. This merging of developmental and social neuroscience literature thus supports the view that ontogenic development of empathy is rooted in early infancy, well before the emergence of verbal abilities. With age, the refinement of top-down mechanisms may foster more appropriate empathic responses, thus promoting greater altruistic motivation and prosocial behaviors. Copyright © 2016 Elsevier Inc. All rights reserved.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

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

2003-01-01

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

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

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

2003-12-15

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

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

Science.gov (United States)

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

2014-01-01

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

Analysis of Renal Anomalies in VACTERL Association

OpenAIRE

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

2014-01-01

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

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

Directory of Open Access Journals (Sweden)

Nadia Skauli

2016-11-01

Full Text Available Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3, characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

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

Czech Academy of Sciences Publication Activity Database

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

2015-01-01

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

Sea surface temperature anomalies in the Arabian Sea

Digital Repository Service at National Institute of Oceanography (India)

RameshKumar, M.R.

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

Anomalies and gravity

International Nuclear Information System (INIS)

Mielke, Eckehard W.

2006-01-01

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

Fivebrane gravitational anomalies

International Nuclear Information System (INIS)

Becker, Katrin; Becker, Melanie

2000-01-01

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

Analyticity properties of Graham-Witten anomalies

International Nuclear Information System (INIS)

Asnin, Vadim

2008-01-01

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

Aeromagnetic anomalies over faulted strata

Science.gov (United States)

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

2011-01-01

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

A Categorical Structure-Activity Relationship Analysis of the Developmental Toxicity of Antithyroid Drugs

Directory of Open Access Journals (Sweden)

Cunningham AlbertR

2009-11-01

Full Text Available The choice of therapeutic strategies for hyperthyroidism during pregnancy is limited. Surgery and radioiodine are typically avoided, leaving propylthiouracil and methimazole in the US. Carbimazole, a metabolic precursor of methimazole, is available in some countries outside of the US. In the US propylthiouracil is recommended because of concern about developmental toxicity from methimazole and carbimazole. Despite this recommendation, the data on developmental toxicity of all three agents are extremely limited and insufficient to support a policy given the broad use of methimazole and carbimazole around the world. In the absence of new human or animal data we describe the development of a new structure-activity relationship (SAR model for developmental toxicity using the cat-SAR expert system. The SAR model was developed from data for 323 compounds evaluated for human developmental toxicity with 130 categorized as developmental toxicants and 193 as nontoxicants. Model cross-validation yielded a concordance between observed and predicted results between 79% to 81%. Based on this model, propylthiouracil, methimazole, and carbimazole were observed to share some structural features relating to human developmental toxicity. Thus given the need to treat women with Graves's disease during pregnancy, new molecules with minimized risk for developmental toxicity are needed. To help meet this challenge, the cat-SAR method would be a useful in screening new drug candidates for developmental toxicity as well as for investigating their mechanism of action.

A Categorical Structure-Activity Relationship Analysis of the Developmental Toxicity of Antithyroid Drugs

Directory of Open Access Journals (Sweden)

Albert R. Cunningham

2009-01-01

Full Text Available The choice of therapeutic strategies for hyperthyroidism during pregnancy is limited. Surgery and radioiodine are typically avoided, leaving propylthiouracil and methimazole in the US. Carbimazole, a metabolic precursor of methimazole, is available in some countries outside of the US. In the US propylthiouracil is recommended because of concern about developmental toxicity from methimazole and carbimazole. Despite this recommendation, the data on developmental toxicity of all three agents are extremely limited and insufficient to support a policy given the broad use of methimazole and carbimazole around the world. In the absence of new human or animal data we describe the development of a new structure-activity relationship (SAR model for developmental toxicity using the cat-SAR expert system. The SAR model was developed from data for 323 compounds evaluated for human developmental toxicity with 130 categorized as developmental toxicants and 193 as nontoxicants. Model cross-validation yielded a concordance between observed and predicted results between 79% to 81%. Based on this model, propylthiouracil, methimazole, and carbimazole were observed to share some structural features relating to human developmental toxicity. Thus given the need to treat women with Graves's disease during pregnancy, new molecules with minimized risk for developmental toxicity are needed. To help meet this challenge, the cat-SAR method would be a useful in screening new drug candidates for developmental toxicity as well as for investigating their mechanism of action.

Holographic entanglement entropy and gravitational anomalies

NARCIS (Netherlands)

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

2014-01-01

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

Toward Baseline Software Anomalies in NASA Missions

Science.gov (United States)

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

2012-01-01

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

Animal models of human anxiety disorders: reappraisal from a developmental psychopathology vantage point.

Science.gov (United States)

Lampis, Valentina; Maziade, Michel; Battaglia, Marco

2011-05-01

We are witnessing a tremendous expansion of strategies and techniques that derive from basic and preclinical science to study the fine genetic, epigenetic, and proteomic regulation of behavior in the laboratory animal. In this endeavor, animal models of psychiatric illness are becoming the almost exclusive domain of basic researchers, with lesser involvement of clinician researchers in their conceptual design, and transfer into practice of new paradigms. From the side of human behavioral research, the growing interest in gene-environment interplay and the fostering of valid endophenotypes are among the few substantial innovations in the effort of linking common mental disorders to cutting-edge clinical research questions. We argue that it is time for cross-fertilization between these camps. In this article, we a) observe that the "translational divide" can-and should-be crossed by having investigators from both the basic and the clinical sides cowork on simpler, valid "endophenotypes" of neurodevelopmental relevance; b) emphasize the importance of unambiguous physiological readouts, more than behavioral equivalents of human symptoms/syndromes, for animal research; c) indicate and discuss how this could be fostered and implemented in a developmental framework of reference for some common anxiety disorders and ultimately lead to better animal models of human mental disorders.

Branchial anomalies in the pediatric population.

Science.gov (United States)

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

2007-08-01

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

Dynamical supersymmetry breaking and gauge anomalies

International Nuclear Information System (INIS)

Zhang, H.

1991-01-01

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

Developmental Programming of Adult Disease: Reprogramming by Melatonin?

Directory of Open Access Journals (Sweden)

You-Lin Tain

2017-02-01

Full Text Available Adult-onset chronic non-communicable diseases (NCDs can originate from early life through so-called the “developmental origins of health and disease” (DOHaD or “developmental programming”. The DOHaD concept offers the “reprogramming” strategy to shift the treatment from adulthood to early life, before clinical disease is apparent. Melatonin, an endogenous indoleamine produced by the pineal gland, has pleiotropic bioactivities those are beneficial in a variety of human diseases. Emerging evidence support that melatonin is closely inter-related to other proposed mechanisms contributing to the developmental programming of a variety of chronic NCDs. Recent animal studies have begun to unravel the multifunctional roles of melatonin in many experimental models of developmental programming. Even though some progress has been made in research on melatonin as a reprogramming strategy to prevent DOHaD-related NCDs, future human studies should aim at filling the translational gap between animal models and clinical trials. Here, we review several key themes on the reprogramming effects of melatonin in DOHaD research. We have particularly focused on the following areas: mechanisms of developmental programming; the interrelationship between melatonin and mechanisms underlying developmental programming; pathophysiological roles of melatonin in pregnancy and fetal development; and insight provided by animal models to support melatonin as a reprogramming therapy. Rates of NCDs are increasing faster than anticipated all over the world. Hence, there is an urgent need to understand reprogramming mechanisms of melatonin and to translate experimental research into clinical practice for halting a growing list of DOHaD-related NCDs.

Developmental Programming of Adult Disease: Reprogramming by Melatonin?

Science.gov (United States)

Tain, You-Lin; Huang, Li-Tung; Hsu, Chien-Ning

2017-02-16

Adult-onset chronic non-communicable diseases (NCDs) can originate from early life through so-called the "developmental origins of health and disease" (DOHaD) or "developmental programming". The DOHaD concept offers the "reprogramming" strategy to shift the treatment from adulthood to early life, before clinical disease is apparent. Melatonin, an endogenous indoleamine produced by the pineal gland, has pleiotropic bioactivities those are beneficial in a variety of human diseases. Emerging evidence support that melatonin is closely inter-related to other proposed mechanisms contributing to the developmental programming of a variety of chronic NCDs. Recent animal studies have begun to unravel the multifunctional roles of melatonin in many experimental models of developmental programming. Even though some progress has been made in research on melatonin as a reprogramming strategy to prevent DOHaD-related NCDs, future human studies should aim at filling the translational gap between animal models and clinical trials. Here, we review several key themes on the reprogramming effects of melatonin in DOHaD research. We have particularly focused on the following areas: mechanisms of developmental programming; the interrelationship between melatonin and mechanisms underlying developmental programming; pathophysiological roles of melatonin in pregnancy and fetal development; and insight provided by animal models to support melatonin as a reprogramming therapy. Rates of NCDs are increasing faster than anticipated all over the world. Hence, there is an urgent need to understand reprogramming mechanisms of melatonin and to translate experimental research into clinical practice for halting a growing list of DOHaD-related NCDs.

On Newton-Cartan trace anomalies

International Nuclear Information System (INIS)

Auzzi, Roberto; Baiguera, Stefano; Nardelli, Giuseppe

2016-01-01

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

On Newton-Cartan trace anomalies

Energy Technology Data Exchange (ETDEWEB)

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

2016-02-01

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

Ferret Workflow Anomaly Detection System

National Research Council Canada - National Science Library

Smith, Timothy J; Bryant, Stephany

2005-01-01

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

Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage.

Science.gov (United States)

Tulpule, Asmin; Lensch, M William; Miller, Justine D; Austin, Karyn; D'Andrea, Alan; Schlaeger, Thorsten M; Shimamura, Akiko; Daley, George Q

2010-04-29

Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive disorder characterized by pediatric bone marrow failure and congenital anomalies. The effect of FA gene deficiency on hematopoietic development in utero remains poorly described as mouse models of FA do not develop hematopoietic failure and such studies cannot be performed on patients. We have created a human-specific in vitro system to study early hematopoietic development in FA using a lentiviral RNA interference (RNAi) strategy in human embryonic stem cells (hESCs). We show that knockdown of FANCA and FANCD2 in hESCs leads to a reduction in hematopoietic fates and progenitor numbers that can be rescued by FA gene complementation. Our data indicate that hematopoiesis is impaired in FA from the earliest stages of development, suggesting that deficiencies in embryonic hematopoiesis may underlie the progression to bone marrow failure in FA. This work illustrates how hESCs can provide unique insights into human development and further our understanding of genetic disease.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2002-09-15

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong

2002-01-01

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

Distribution of branchial anomalies in a paediatric Asian population.

Science.gov (United States)

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

2015-04-01

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

Coronary anomalies: what the radiologist should know*

Science.gov (United States)

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

2015-01-01

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

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

Directory of Open Access Journals (Sweden)

Samuel O. Wajuihian

2015-08-01

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

A 3-dimensional human embryonic stem cell (hESC)-derived model to detect developmental neurotoxicity of nanoparticles.

Science.gov (United States)

Hoelting, Lisa; Scheinhardt, Benjamin; Bondarenko, Olesja; Schildknecht, Stefan; Kapitza, Marion; Tanavde, Vivek; Tan, Betty; Lee, Qian Yi; Mecking, Stefan; Leist, Marcel; Kadereit, Suzanne

2013-04-01

Nanoparticles (NPs) have been shown to accumulate in organs, cross the blood-brain barrier and placenta, and have the potential to elicit developmental neurotoxicity (DNT). Here, we developed a human embryonic stem cell (hESC)-derived 3-dimensional (3-D) in vitro model that allows for testing of potential developmental neurotoxicants. Early central nervous system PAX6(+) precursor cells were generated from hESCs and differentiated further within 3-D structures. The 3-D model was characterized for neural marker expression revealing robust differentiation toward neuronal precursor cells, and gene expression profiling suggested a predominantly forebrain-like development. Altered neural gene expression due to exposure to non-cytotoxic concentrations of the known developmental neurotoxicant, methylmercury, indicated that the 3-D model could detect DNT. To test for specific toxicity of NPs, chemically inert polyethylene NPs (PE-NPs) were chosen. They penetrated deep into the 3-D structures and impacted gene expression at non-cytotoxic concentrations. NOTCH pathway genes such as HES5 and NOTCH1 were reduced in expression, as well as downstream neuronal precursor genes such as NEUROD1 and ASCL1. FOXG1, a patterning marker, was also reduced. As loss of function of these genes results in severe nervous system impairments in mice, our data suggest that the 3-D hESC-derived model could be used to test for Nano-DNT.

Anomaly coefficients: Their calculation and congruences

International Nuclear Information System (INIS)

Braden, H.W.

1988-01-01

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

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

Science.gov (United States)

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

Association of prenatal phenobarbital and phenytoin exposure with genital anomalies and menstrual disorders

NARCIS (Netherlands)

Dessens, A. B.; Cohen-Kettenis, P. T.; Mellenbergh, G. J.; Koppe, J. G.; Poll, N. E.; Boer, K.

2001-01-01

BACKGROUND: Animal studies demonstrated that early exposure to phenobarbital decreases reproductive function. This study investigates whether prenatal exposure to these anticonvulsants affects human genital tract development. METHODS: Genital anomalies at birth were studied retrospectively in 90

The reactor antineutrino anomalies

Energy Technology Data Exchange (ETDEWEB)

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

2016-07-01

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

A rare anomaly: Double right coronary artery

Directory of Open Access Journals (Sweden)

Dursun Çayan Akkoyun

2013-01-01

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

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

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

1987-01-01

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

Algebraic study of chiral anomalies

Indian Academy of Sciences (India)

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

Clinical Study of Second Branchial Cleft Anomalies.

Science.gov (United States)

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

2018-03-30

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

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

International Nuclear Information System (INIS)

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

2014-01-01

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

An introduction to gravitational anomalies

International Nuclear Information System (INIS)

Alvarez-Gaume', L.

1984-01-01

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

Trisomy 21 and facial developmental instability.

Science.gov (United States)

Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

2013-05-01

The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. Copyright © 2013 Wiley Periodicals, Inc.

Developmental dyscalculia is related to visuo-spatial memory and inhibition impairment ☆

OpenAIRE

Szucs, Denes; Devine, Amy; Soltesz, Fruzsina; Nobes, Alison; Gabriel, Florence

2013-01-01

Developmental dyscalculia is thought to be a specific impairment of mathematics ability. Currently dominant cognitive neuroscience theories of developmental dyscalculia suggest that it originates from the impairment of the magnitude representation of the human brain, residing in the intraparietal sulcus, or from impaired connections between number symbols and the magnitude representation. However, behavioral research offers several alternative theories for developmental dyscalculia and neuro-...

Global anomalies in chiral lattice gauge theories

International Nuclear Information System (INIS)

Baer, O.

2000-07-01

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

Prevalence of dental anomalies in Saudi orthodontic patients.

Science.gov (United States)

Al-Jabaa, Aljazi H; Aldrees, Abdullah M

2013-07-01

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

Development of a Combined In Vitro Physiologically Based Kinetic (PBK) and Monte Carlo Modelling Approach to Predict Interindividual Human Variation in Phenol-Induced Developmental Toxicity.

Science.gov (United States)

Strikwold, Marije; Spenkelink, Bert; Woutersen, Ruud A; Rietjens, Ivonne M C M; Punt, Ans

2017-06-01

With our recently developed in vitro physiologically based kinetic (PBK) modelling approach, we could extrapolate in vitro toxicity data to human toxicity values applying PBK-based reverse dosimetry. Ideally information on kinetic differences among human individuals within a population should be considered. In the present study, we demonstrated a modelling approach that integrated in vitro toxicity data, PBK modelling and Monte Carlo simulations to obtain insight in interindividual human kinetic variation and derive chemical specific adjustment factors (CSAFs) for phenol-induced developmental toxicity. The present study revealed that UGT1A6 is the primary enzyme responsible for the glucuronidation of phenol in humans followed by UGT1A9. Monte Carlo simulations were performed taking into account interindividual variation in glucuronidation by these specific UGTs and in the oral absorption coefficient. Linking Monte Carlo simulations with PBK modelling, population variability in the maximum plasma concentration of phenol for the human population could be predicted. This approach provided a CSAF for interindividual variation of 2.0 which covers the 99th percentile of the population, which is lower than the default safety factor of 3.16 for interindividual human kinetic differences. Dividing the dose-response curve data obtained with in vitro PBK-based reverse dosimetry, with the CSAF provided a dose-response curve that reflects the consequences of the interindividual variability in phenol kinetics for the developmental toxicity of phenol. The strength of the presented approach is that it provides insight in the effect of interindividual variation in kinetics for phenol-induced developmental toxicity, based on only in vitro and in silico testing. © The Author 2017. Published by Oxford University Press on behalf of the Society of Toxicology. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Developmental trajectory of time perspective: From children to older adults.

Science.gov (United States)

Chen, Tao; Liu, Lu-Lu; Cui, Ji-Fang; Chen, Xing-Jie; Wang, Ya

2016-12-01

Time perspective is a fundamental dimension of the psychological time construct, with a pervasive and powerful influence on human behavior. However, the developmental trajectory of time perspective across a human lifespan remains unclear. The current study aimed to portray the developmental trajectory of all dimensions of time perspectives from children to older adults in a large sample. A total of 1,901 individuals (aged 9-84 years) completed measures of time perspective. They were then divided into five age groups: children, teenagers, young adults, middle-aged adults, and older adults. Results suggested that each time perspective showed a unique developmental pattern across the lifespan. Moreover, perceived economic situation and education were related to some dimensions of time perspective. © 2016 The Institute of Psychology, Chinese Academy of Sciences and John Wiley & Sons Australia, Ltd.

MR imaging of paediatric uterovaginal anomalies

International Nuclear Information System (INIS)

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

1999-01-01

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

Anomaly Detection for Next-Generation Space Launch Ground Operations

Science.gov (United States)

Spirkovska, Lilly; Iverson, David L.; Hall, David R.; Taylor, William M.; Patterson-Hine, Ann; Brown, Barbara; Ferrell, Bob A.; Waterman, Robert D.

2010-01-01

NASA is developing new capabilities that will enable future human exploration missions while reducing mission risk and cost. The Fault Detection, Isolation, and Recovery (FDIR) project aims to demonstrate the utility of integrated vehicle health management (IVHM) tools in the domain of ground support equipment (GSE) to be used for the next generation launch vehicles. In addition to demonstrating the utility of IVHM tools for GSE, FDIR aims to mature promising tools for use on future missions and document the level of effort - and hence cost - required to implement an application with each selected tool. One of the FDIR capabilities is anomaly detection, i.e., detecting off-nominal behavior. The tool we selected for this task uses a data-driven approach. Unlike rule-based and model-based systems that require manual extraction of system knowledge, data-driven systems take a radically different approach to reasoning. At the basic level, they start with data that represent nominal functioning of the system and automatically learn expected system behavior. The behavior is encoded in a knowledge base that represents "in-family" system operations. During real-time system monitoring or during post-flight analysis, incoming data is compared to that nominal system operating behavior knowledge base; a distance representing deviation from nominal is computed, providing a measure of how far "out of family" current behavior is. We describe the selected tool for FDIR anomaly detection - Inductive Monitoring System (IMS), how it fits into the FDIR architecture, the operations concept for the GSE anomaly monitoring, and some preliminary results of applying IMS to a Space Shuttle GSE anomaly.

Gravitational Anomaly and Transport Phenomena

International Nuclear Information System (INIS)

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

2011-01-01

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

Praenatalt diagnosticeret hydronefrose og andre urologiske anomalier

DEFF Research Database (Denmark)

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

2006-01-01

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

Role of the pre- and post-natal environment in developmental programming of health and productivity.

Science.gov (United States)

Reynolds, Lawrence P; Caton, Joel S

2012-05-06

The concept that developmental insults (for example, poor pre- or postnatal nutrition) can have long-term consequences on health and well-being of the offspring has been termed developmental programming. In livestock, developmental programming affects production traits, including growth, body composition, and reproduction. Although low birth weight was used as a proxy for compromised fetal development in the initial epidemiological studies, based on controlled studies using livestock and other animal models in the last two decades we now know that developmental programming can occur independently of any effects on birth weight. Studies in humans, rodents, and livestock also have confirmed the critical role of the placenta in developmental programming. In addition, the central role of epigenetic regulation in developmental programming has been confirmed. Lastly, relatively simple therapeutic/management strategies designed to 'rescue' placental development and function are being developed to minimize the effects of developmental programming on health and productivity of humans, livestock, and other mammals. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Concomitant achondroplasia and developmental dysplasia of the hip

Directory of Open Access Journals (Sweden)

Tennison L. Malcolm, MD

2015-12-01

Full Text Available Achondroplasia (ACH is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and highlights difficulties of primary total hip arthroplasty (THA as a treatment option. Intraoperative radiographic imaging is advised to ensure proper prosthesis placement. Femoral osteotomy may aid visualization, reduction, and avoidance of soft tissue injury. Concomitant ACH and DDH is a challenging problem that can be successfully treated with modified THA.

Human skin basement membrane-associated heparan sulphate proteoglycan: distinctive differences in ultrastructural localization as a function of developmental age

DEFF Research Database (Denmark)

Horiguchi, Y; Fine, J D; Couchman, J R

1991-01-01

was identical to that observed in neonatal and adult human skin. These findings demonstrate that active remodelling of the dermo-epidermal junction occurs during at least the first two trimesters, and affects not only basement membrane-associated structures but also specific antigens.......Recent studies have demonstrated that skin basement membrane components are expressed within the dermo-epidermal junction in an orderly sequence during human foetal development. We have investigated the ultrastructural localization of basement membrane-related antigens in human foetal skin...... at different developmental ages using two monoclonal antibodies to a well-characterized basement membrane-associated heparan sulphate proteoglycan. A series of foetal skin specimens (range, 54-142 gestational days) were examined using an immunoperoxidase immunoelectron microscopic technique. In specimens...

Developmental Programming of Adult Disease: Reprogramming by Melatonin?

OpenAIRE

Tain, You-Lin; Huang, Li-Tung; Hsu, Chien-Ning

2017-01-01

Adult-onset chronic non-communicable diseases (NCDs) can originate from early life through so-called the “developmental origins of health and disease” (DOHaD) or “developmental programming”. The DOHaD concept offers the “reprogramming” strategy to shift the treatment from adulthood to early life, before clinical disease is apparent. Melatonin, an endogenous indoleamine produced by the pineal gland, has pleiotropic bioactivities those are beneficial in a variety of human diseases. Emerging evi...

Gaugino-assisted anomaly mediation

International Nuclear Information System (INIS)

Kribs, Graham D.

2001-01-01

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

Gaugino-Assisted Anomaly Mediation

International Nuclear Information System (INIS)

Kaplan, David Elazzar; Kribs, Graham D.

2000-01-01

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

Anomaly-specified virtual dimensionality

Science.gov (United States)

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

2013-09-01

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

Developmental imaging: the avian embryo hatches to the challenge.

Science.gov (United States)

Kulesa, Paul M; McKinney, Mary C; McLennan, Rebecca

2013-06-01

The avian embryo provides a multifaceted model to study developmental mechanisms because of its accessibility to microsurgery, fluorescence cell labeling, in vivo imaging, and molecular manipulation. Early two-dimensional planar growth of the avian embryo mimics human development and provides unique access to complex cell migration patterns using light microscopy. Later developmental events continue to permit access to both light and other imaging modalities, making the avian embryo an excellent model for developmental imaging. For example, significant insights into cell and tissue behaviors within the primitive streak, craniofacial region, and cardiovascular and peripheral nervous systems have come from avian embryo studies. In this review, we provide an update to recent advances in embryo and tissue slice culture and imaging, fluorescence cell labeling, and gene profiling. We focus on how technical advances in the chick and quail provide a clearer understanding of how embryonic cell dynamics are beautifully choreographed in space and time to sculpt cells into functioning structures. We summarize how these technical advances help us to better understand basic developmental mechanisms that may lead to clinical research into human birth defects and tissue repair. Copyright © 2013 Wiley Periodicals, Inc.

Sexuality and Developmental Disability: Obstacles to Healthy Sexuality throughout the Lifespan

Science.gov (United States)

Richards, Deborah; Miodrag, Nancy; Watson, Shelley L.

2006-01-01

This paper presents a lifespan perspective of sexuality issues for individuals with developmental disabilities. Individuals with developmental disabilities are human beings who have historically been denied the right to express their sexuality or engage in sexual relationships due to misconceptions or negative attitudes. Using a hypothetical case…

Higher derivative regularization and chiral anomaly

International Nuclear Information System (INIS)

Nagahama, Yoshinori.

1985-02-01

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

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

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Micol Busi

2015-01-01

Full Text Available 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

Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

Energy Technology Data Exchange (ETDEWEB)

Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

2006-07-15

The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

The application of mouse and human embryonic stem cells with transcriptomics in alternative developmental toxicity tests : A bridge from model species to man

NARCIS (Netherlands)

Schulpen, S.H.W.

2015-01-01

During life humans are exposed to diverse hazardous compounds, which can have toxicological effects. Reproductive and developmental toxicology are research areas dedicated to the study of the potential of a compound to affect male and female fertility, and development of the embryo and fetus during

MR imaging of neuronal migration anomaly

International Nuclear Information System (INIS)

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

1991-01-01

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

Analysis of renal anomalies in VACTERL association.

Science.gov (United States)

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

2014-10-01

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

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

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

To Encounter, to Build the World and to Become a Human Being. Advocating for a Material-Cultural Turn in Developmental Psychology.

Science.gov (United States)

Moro, Christiane

2016-12-01

Why have material world of daily life and material objects in their conventional features or to say it in other words, why have the mundane world and mundane objects, in which the human beings live and children come to, encounter, experience and develop through, received so little attention from psychologists thus remaining a blind spot in mainstream developmental psychology? Certainly the object has not been totally forgotten (e.g. Piaget's constructivist paradigm) but it has been considered as theoretically determined by the categories of understanding (cf. Kant), and considered as a key to understanding the world in its physical properties by the infant. But the material world and the material objects that are used for everyday purposes (i.e. pragmatically) belonging to material culture, have been totally neglected by developmental psychologists. Reacting to the Kantian agenda of developmental psychology but also to heterodox non developmentalist thinkers such as Gibson who is a growing source of inspiration for developmental psychologists today, we challenge the taken-for-granted mundane world, arguing for the importance of material objects related to material culture in psychological development during the prelinguistic period. On the basis of recent research in early development grounded in the Vygotskian paradigm, we discuss this issue through Marxist Anthropology, Material Culture Studies and Phenomenology. As a consequence we advocate for a material-cultural turn in psychological development in order to place the issue of material world and material objects in their pragmatic and semiotic features on the agenda of developmental psychology.

Distribution of female genital tract anomalies in two classifications.

Science.gov (United States)

Heinonen, Pentti K

2016-11-01

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

Human developmental enhancers conserved between deuterostomes and protostomes.

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Shoa L Clarke

Full Text Available The identification of homologies, whether morphological, molecular, or genetic, is fundamental to our understanding of common biological principles. Homologies bridging the great divide between deuterostomes and protostomes have served as the basis for current models of animal evolution and development. It is now appreciated that these two clades share a common developmental toolkit consisting of conserved transcription factors and signaling pathways. These patterning genes sometimes show common expression patterns and genetic interactions, suggesting the existence of similar or even conserved regulatory apparatus. However, previous studies have found no regulatory sequence conserved between deuterostomes and protostomes. Here we describe the first such enhancers, which we call bilaterian conserved regulatory elements (Bicores. Bicores show conservation of sequence and gene synteny. Sequence conservation of Bicores reflects conserved patterns of transcription factor binding sites. We predict that Bicores act as response elements to signaling pathways, and we show that Bicores are developmental enhancers that drive expression of transcriptional repressors in the vertebrate central nervous system. Although the small number of identified Bicores suggests extensive rewiring of cis-regulation between the protostome and deuterostome clades, additional Bicores may be revealed as our understanding of cis-regulatory logic and sample of bilaterian genomes continue to grow.

Axial anomaly at finite temperature

International Nuclear Information System (INIS)

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

1985-01-01

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

Priming 3D cultures of human mesenchymal stromal cells toward cartilage formation via developmental pathways.

Science.gov (United States)

Centola, Matteo; Tonnarelli, Beatrice; Schären, Stefan; Glaser, Nicolas; Barbero, Andrea; Martin, Ivan

2013-11-01

The field of regenerative medicine has increasingly recognized the importance to be inspired by developmental processes to identify signaling pathways crucial for 3D organogenesis and tissue regeneration. Here, we aimed at recapitulating the first events occurring during limb development (ie, cell condensation and expansion of an undifferentiated mesenchymal cell population) to prime 3D cultures of human bone marrow-derived mesenchymal stromal/stem cells (hBM-MSC) toward the chondrogenic route. Based on embryonic development studies, we hypothesized that Wnt3a and fibroblast growth factor 2 (FGF2) induce hBM-MSC to proliferate in 3D culture as an undifferentiated pool of progenitors (defined by clonogenic capacity and expression of typical markers), retaining chondrogenic potential upon induction by suitable morphogens. hBM-MSC were responsive to Wnt signaling in 3D pellet culture, as assessed by significant upregulation of main target genes and increase of unphosphorylated β-catenin levels. Wnt3a was able to induce a five-fold increase in the number of proliferating hBM-MSC (6.4% vs. 1.3% in the vehicle condition), although total DNA content of the 3D construct was decreasing over time. Preconditioning with Wnt3a improved transforming growth factor-β1 mediated chondrogenesis (30% more glycosaminoglycans/cell in average). In contrast to developmental and 2D MSC culture models, FGF2 antagonized the Wnt-mediated effects. Interestingly, the CD146⁺ subpopulation was found to be more responsive to Wnt3a. The presented data indicate a possible strategy to prime 3D cultures of hBM-MSC by invoking a "developmental engineering" approach. The study also identifies some opportunities and challenges to cross-fertilize skeletal development models and 3D hBM-MSC culture systems.

Global gravitational anomalies and transport

Energy Technology Data Exchange (ETDEWEB)

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

2016-12-21

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

Low Risk Anomalies?

DEFF Research Database (Denmark)

Schneider, Paul; Wagner, Christian; Zechner, Josef

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

Congenital laryngeal anomalies,

Directory of Open Access Journals (Sweden)

Michael J. Rutter

2014-12-01

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

Fetal liver blood flow distribution: role in human developmental strategy to prioritize fat deposition versus brain development.

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Keith M Godfrey

Full Text Available Among primates, human neonates have the largest brains but also the highest proportion of body fat. If placental nutrient supply is limited, the fetus faces a dilemma: should resources be allocated to brain growth, or to fat deposition for use as a potential postnatal energy reserve? We hypothesised that resolving this dilemma operates at the level of umbilical blood distribution entering the fetal liver. In 381 uncomplicated pregnancies in third trimester, we measured blood flow perfusing the fetal liver, or bypassing it via the ductus venosus to supply the brain and heart using ultrasound techniques. Across the range of fetal growth and independent of the mother's adiposity and parity, greater liver blood flow was associated with greater offspring fat mass measured by dual-energy X-ray absorptiometry, both in the infant at birth (r = 0.43, P<0.001 and at age 4 years (r = 0.16, P = 0.02. In contrast, smaller placentas less able to meet fetal demand for essential nutrients were associated with a brain-sparing flow pattern (r = 0.17, p = 0.02. This flow pattern was also associated with a higher degree of shunting through ductus venosus (P = 0.04. We propose that humans evolved a developmental strategy to prioritize nutrient allocation for prenatal fat deposition when the supply of conditionally essential nutrients requiring hepatic inter-conversion is limited, switching resource allocation to favour the brain if the supply of essential nutrients is limited. Facilitated placental transfer mechanisms for glucose and other nutrients evolved in environments less affluent than those now prevalent in developed populations, and we propose that in circumstances of maternal adiposity and nutrient excess these mechanisms now also lead to prenatal fat deposition. Prenatal developmental influences play important roles in the human propensity to deposit fat.

Research on Healthy Anomaly Detection Model Based on Deep Learning from Multiple Time-Series Physiological Signals

Directory of Open Access Journals (Sweden)

Kai Wang

2016-01-01

Full Text Available Health is vital to every human being. To further improve its already respectable medical technology, the medical community is transitioning towards a proactive approach which anticipates and mitigates risks before getting ill. This approach requires measuring the physiological signals of human and analyzes these data at regular intervals. In this paper, we present a novel approach to apply deep learning in physiological signals analysis that allows doctor to identify latent risks. However, extracting high level information from physiological time-series data is a hard problem faced by the machine learning communities. Therefore, in this approach, we apply model based on convolutional neural network that can automatically learn features from raw physiological signals in an unsupervised manner and then based on the learned features use multivariate Gauss distribution anomaly detection method to detect anomaly data. Our experiment is shown to have a significant performance in physiological signals anomaly detection. So it is a promising tool for doctor to identify early signs of illness even if the criteria are unknown a priori.

[Occlusal anomalies in the deciduous and mixed bites].

Science.gov (United States)

Legovic, M; Mady, L

1998-01-01

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

Lunar Bouguer gravity anomalies - Imbrian age craters

Science.gov (United States)

Dvorak, J.; Phillips, R. J.

1978-01-01

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

Developmental neurotoxicants in human milk : Comparison of levels and intakes in three European countries

NARCIS (Netherlands)

Čechová, Eliška; Scheringer, Martin; Seifertová, Marta; Mikeš, Ondřej; Kroupová, Kristýna; Kuta, Jan; Forns, Joan; Eggesbø, Merete; Quaak, Ilona; de Cock, Marijke; van de Bor, Margot; Patayová, Henrieta; Palkovičová Murínová, Ľubica; Kočan, Anton

2016-01-01

Developmental neurotoxicants (DNTs), such as methylmercury (MeHg), polychlorinated biphenyls (PCBs) and selected organochlorine pesticides (OCPs), have gained increasing interest recently due to their possible relation to developmental disorders in children, which are increasing worldwide. We

Branchial anomalies: diagnosis and management.

Science.gov (United States)

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

2014-01-01

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

Branchial Anomalies: Diagnosis and Management

Science.gov (United States)

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

2014-01-01

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

FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

Directory of Open Access Journals (Sweden)

Mala Venkata

2016-06-01

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

Fetal renal anomalies : diagnosis, management, and outcome

NARCIS (Netherlands)

Damen-Elias, Henrica Antonia Maria

2004-01-01

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

Congenital anomalies of the male urethra

International Nuclear Information System (INIS)

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

2007-01-01

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

Signal anomaly detection and characterization

International Nuclear Information System (INIS)

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

1988-08-01

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

Thermal infrared anomalies of several strong earthquakes.

Science.gov (United States)

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

2013-01-01

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

Euro-African MAGSAT anomaly-tectonic observations

Science.gov (United States)

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

1985-01-01

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

Coronary artery anomalies in Turner Syndrome.

Science.gov (United States)

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

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

Developmental Idealism: The Cultural Foundations of World Development Programs

Science.gov (United States)

Thornton, Arland; Dorius, Shawn F.; Swindle, Jeffrey

2015-01-01

This paper extends theory and research concerning cultural models of development beyond family and demographic matters to a broad range of additional factors, including government, education, human rights, daily social conventions, and religion. Developmental idealism is a cultural model—a set of beliefs and values—that identifies the appropriate goals of development and the ends for achieving these goals. It includes beliefs about positive cause and effect relationships among such factors as economic growth, educational achievement, health, and political governance, as well as strong values regarding many attributes, including economic growth, education, small families, gender equality, and democratic governance. This cultural model has spread from its origins among the elites of northwest Europe to elites and ordinary people throughout the world. Developmental idealism has become so entrenched in local, national, and global social institutions that it has now achieved a taken-for-granted status among many national elites, academics, development practitioners, and ordinary people around the world. We argue that developmental idealism culture has been a fundamental force behind many cultural clashes within and between societies, and continues to be an important cause of much global social change. We suggest that developmental idealism should be included as a causal factor in theories of human behavior and social change. PMID:26457325

NTP-CERHR monograph on the potential human reproductive and developmental effects of bisphenol A.

Science.gov (United States)

Shelby, Michael D

2008-09-01

The National Toxicology Program (NTP) Center for the Evaluation of Risks to Human Reproduction (CERHR) conducted an evaluation of the potential for bisphenol A to cause adverse effects on reproduction and development in humans. The CERHR Expert Panel on Bisphenol A completed its evaluation in August 2007. CERHR selected bisphenol A for evaluation because of the: widespread human exposure; public concern for possible health effects from human exposures; high production volume; evidence of reproductive and developmental toxicity in laboratory animal studies Bisphenol A (CAS RN: 80-05-7) is a high production volume chemical used primarily in the production of polycarbonate plastics and epoxy resins. Polycarbonate plastics are used in some food and drink containers; the resins are used as lacquers to coat metal products such as food cans, bottle tops, and water supply pipes. To a lesser extent bisphenol A is used in the production of polyester resins, polysulfone resins, polyacrylate resins, and flame retardants. In addition, bisphenol A is used in the processing of polyvinyl chloride plastic and in the recycling of thermal paper. Some polymers used in dental sealants and tooth coatings contain bisphenol A. The primary source of exposure to bisphenol A for most people is assumed to occur through the diet. While air, dust, and water (including skin contact during bathing and swimming) are other possible sources of exposure, bisphenol A in food and beverages accounts for the majority of daily human exposure. The highest estimated daily intakes of bisphenol A in the general population occur in infants and children. The results of this bisphenol A evaluation are published in an NTP-CERHR Monograph that includes the (1) NTP Brief and (2) Expert Panel Report on the Reproductive and Developmental Toxicity of Bisphenol A. Additional information related to the evaluation process, including the peer review report for the NTP Brief and public comments received on the draft NTP

Magnetic resonance imaging of Muellerian duct anomalies in children

International Nuclear Information System (INIS)

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

2016-01-01

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

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

Science.gov (United States)

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.

Limb body wall complex: A rare anomaly

Directory of Open Access Journals (Sweden)

Panduranga Chikkannaiah

2013-01-01

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

Spaceflight Activates Protein Kinase C Alpha Signaling and Modifies the Developmental Stage of Human Neonatal Cardiovascular Progenitor Cells.

Science.gov (United States)

Baio, Jonathan; Martinez, Aida F; Bailey, Leonard; Hasaniya, Nahidh; Pecaut, Michael J; Kearns-Jonker, Mary

2018-02-12

Spaceflight impacts cardiovascular function in astronauts; however, its impact on cardiac development and the stem cells that form the basis for cardiac repair is unknown. Accordingly, further research is needed to uncover the potential relevance of such changes to human health. Using simulated microgravity (SMG) generated by two-dimensional clinorotation and culture aboard the International Space Station (ISS), we assessed the effects of mechanical unloading on human neonatal cardiovascular progenitor cell (CPC) developmental properties and signaling. Following 6-7 days of SMG and 12 days of ISS culture, we analyzed changes in gene expression. Both environments induced the expression of genes that are typically associated with an earlier state of cardiovascular development. To understand the mechanism by which such changes occurred, we assessed the expression of mechanosensitive small RhoGTPases in SMG-cultured CPCs and observed decreased levels of RHOA and CDC42. Given the effect of these molecules on intracellular calcium levels, we evaluated changes in noncanonical Wnt/calcium signaling. After 6-7 days under SMG, CPCs exhibited elevated levels of WNT5A and PRKCA. Similarly, ISS-cultured CPCs exhibited elevated levels of calcium handling and signaling genes, which corresponded to protein kinase C alpha (PKCα), a calcium-dependent protein kinase, activation after 30 days. Akt was activated, whereas phosphorylated extracellular signal-regulated kinase levels were unchanged. To explore the effect of calcium induction in neonatal CPCs, we activated PKCα using hWnt5a treatment on Earth. Subsequently, early cardiovascular developmental marker levels were elevated. Transcripts induced by SMG and hWnt5a-treatment are expressed within the sinoatrial node, which may represent embryonic myocardium maintained in its primitive state. Calcium signaling is sensitive to mechanical unloading and directs CPC developmental properties. Further research both in space and on Earth

Developmental changes in GABAergic mechanisms in human visual cortex across the lifespan

Directory of Open Access Journals (Sweden)

Joshua G A Pinto

2010-06-01

Full Text Available Functional maturation of visual cortex is linked with dynamic changes in synaptic expression of GABAergic mechanisms. These include setting the excitation-inhibition balance required for experience-dependent plasticity, as well as, intracortical inhibition underlying development and aging of receptive field properties. Animal studies have shown developmental regulation of GABAergic mechanisms in visual cortex. In this study, we show for the first time how these mechanisms develop in the human visual cortex across the lifespan. We used Western blot analysis of postmortem tissue from human primary visual cortex (n=30, range: 20 days to 80 years to quantify expression of 8 pre- and post-synaptic GABAergic markers. We quantified the inhibitory modulating cannabinoid receptor (CB1, GABA vesicular transporter (VGAT, GABA synthesizing enzymes (GAD65/GAD67, GABAA receptor anchoring protein (Gephyrin, and GABAA receptor subunits (GABAA∝1, GABAA∝2, GABAA∝3. We found a complex pattern of changes, many of which were prolonged and continued well into into the teen, young adult, and even older adult years. These included a monotonic increase or decrease (GABAA∝1, GABAA∝2, a biphasic increase then decrease (GAD65, Gephyrin, or multiple increases and decreases (VGAT, CB1 across the lifespan. Comparing the balances between the pre- and post-synaptic markers we found 3 main transitions (early childhood, early teen years, aging when there were rapid switches in the composition of the GABAergic signaling system, indicating that functioning of the GABAergic system must change as the visual cortex develops and ages. Furthermore, these results provide key information for translating therapies developed in animal models into effective treatments for amblyopia in humans.

Regional magnetic anomaly constraints on continental rifting

Science.gov (United States)

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

1985-01-01

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

Congenital anomalies of the spine: radiologic findings

Energy Technology Data Exchange (ETDEWEB)

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

2003-04-01

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

Positively deflected anomaly mediation

International Nuclear Information System (INIS)

Okada, Nobuchika

2002-01-01

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

A Correlation between Renal Anomalies and Vesicoureteral Reflux

International Nuclear Information System (INIS)

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

2011-01-01

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

A Correlation between Renal Anomalies and Vesicoureteral Reflux

Energy Technology Data Exchange (ETDEWEB)

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

2011-12-15

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

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

Science.gov (United States)

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

2015-03-01

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

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

Science.gov (United States)

Zhao, Xia; Yang, Guang

2017-01-01

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

Identification of Metabolism and Excretion Differences of Procymidone between Rats and Humans Using Chimeric Mice: Implications for Differential Developmental Toxicity.

Science.gov (United States)

Abe, Jun; Tomigahara, Yoshitaka; Tarui, Hirokazu; Omori, Rie; Kawamura, Satoshi

2018-02-28

A metabolite of procymidone, hydroxylated-PCM, causes rat-specific developmental toxicity due to higher exposure to it in rats than in rabbits or monkeys. When procymidone was administered to chimeric mice with rat or human hepatocytes, the plasma level of hydroxylated-PCM was higher than that of procymidone in rat chimeric mice, and the metabolic profile of procymidone in intact rats was well reproduced in rat chimeric mice. In human chimeric mice, the plasma level of hydroxylated-PCM was less, resulting in a much lower exposure. The main excretion route of hydroxylated-PCM-glucuronide was bile (the point that hydroxylated-PCM enters the enterohepatic circulation) in rat chimeric mice, and urine in human chimeric mice. These data suggest that humans, in contrast to rats, extensively form the glucuronide and excrete it in urine, as do rabbits and monkeys. Overall, procymidone's potential for causing teratogenicity in humans must be low compared to that in rats.

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.

Science.gov (United States)

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

2017-12-01

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. 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. 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. 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.

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

Science.gov (United States)

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

Quantum anomalies in nodal line semimetals

Science.gov (United States)

Burkov, A. A.

2018-04-01

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

The developmental toxicity of uranium in mice

International Nuclear Information System (INIS)

Domingo, J.L.; Paternain, J.M.; Llobet, J.M.; Corbella, J.

1989-01-01

To evaluate the developmental toxicity of uranium, 5 groups of pregnant Swiss mice were given by gavage daily doses of 0, 5, 10, 25 and 50 mg/kg of uranyl acetate dihydrate on gestational days 6-15. Cesarean sections were performed on all females on gestation day 18. Fetuses were examined for external, visceral and skeletal abnormalities. The results indicated that such exposure resulted in maternal toxicity as evidenced by reduced weight gain and food consumption during treatment, and increased relative liver weight. There were no treatment-related effects on the number of implantation sites per dam, or on the incidence of postimplantation loss (resorptions plus dead fetuses). The number of live fetuses per litter and the fetal sex ratio were not affected by the treatment. However, dose-related fetal toxicity, consisting primarily of reduced fetal body weight and body length, and an increased incidence of abnormalities was observed. Malformations (cleft palate, bipartite sternebrae) and developmental variations (reduced ossification and unossified skeletal variations) were noted at the 25 and 50 mg/kg per day test levels. Therefore, administration of uranyl acetate dihydrate during organogenesis in mice produced maternal toxicity at 5, 10, 25 and 50 mg/kg per day. The 'no observable effect level' (NOEL) for fetotoxicity including teratogenicity was below 5 mg/kg per day, as some anomalies were observed at this dose. There was no evidence of embryolethality at any dosage level used in this study. (author)

Evaluation of developmental toxicity and teratogenicity of diclofenac using Xenopus embryos.

Science.gov (United States)

Chae, Jeong-Pil; Park, Mi Seon; Hwang, Yoo-Seok; Min, Byung-Hwa; Kim, Sang-Hyun; Lee, Hyun-Shik; Park, Mae-Ja

2015-02-01

Diclofenac is a non-steroidal anti-inflammatory drug (NSAID) with analgesic and anti-pyretic properties. This compound is therefore used to treat pain, inflammatory disorders, and dysmenorrhea. Due to its multimodal mechanism of action and ability to penetrate placenta, diclofenac is known to have undesirable side effects including teratogenicity. However, limited data exist on its teratogenicity, and a detailed investigation regarding harmful effects of this drug during embryogenesis is warranted. Here, we analyzed the developmental toxic effects of diclofenac using Xenopus embryos according to the Frog Embryo Teratogenesis Assay-Xenopus (FETAX) protocol. Diclofenac treatment exerted a teratogenic effect on Xenopus embryos with a teratogenic index (TI) value of 2.64 TI; if this value is higher than 1.2, the cut-off value indicative of toxicity. In particular, mortality of embryos treated with diclofenac increased in a concentration-dependent manner and a broad spectrum of malformations such as shortening and kinking of the axis, abdominal bulging, and prominent blister formation, was observed. The shape and length of internal organs also differed compared to the control group embryos and show developmental retardation on histological label. However, the expression of major tissue-specific markers did not change when analyzed by reverse transcription-polymerase chain reaction (RT-PCR). In conclusion, diclofenac treatment can promote teratogenicity that results in morphological anomalies, but not disrupt the developmental tissue arrangement during Xenopus embryogenesis. Copyright © 2014 Elsevier Ltd. All rights reserved.

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

International Nuclear Information System (INIS)

Heermann, Philipp; Heindel, Walter; Schuelke, Christoph

2017-01-01

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

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

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

2014-01-01

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

The developmental toxicity of perfluoroalkyl acids and their derivatives

International Nuclear Information System (INIS)

Lau, Christopher; Butenhoff, John L.; Rogers, John M.

2004-01-01

Perfluoroalkyl acids such as perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA) have applications in numerous industrial and consumer products. Although the toxicology of some of these compounds has been investigated in the past, the widespread prevalence of PFOS and PFOA in humans, as demonstrated in recent bio-monitoring studies, has drawn considerable interest from the public and regulatory agencies as well as renewed efforts to better understand the hazards that may be inherent in these compounds. This review provides a brief overview of the perfluoroalkyl chemicals and a summary of the available information on the developmental toxicity of the eight-carbon compounds, PFOS and PFOA. Although the teratological potentials of some of these chemicals had been studied in the past and the findings were generally unremarkable, results from recent postnatal studies on developmental and reproductive indices have prompted consideration of their relevance to human health risk. Based on current understanding of the developmental effects of PFOS and PFOA in rodents, several avenues of research are suggested that would further support the risk assessment of these perfluorinated organic chemicals

Novel topological invariants and anomalies

International Nuclear Information System (INIS)

Hirayama, M.; Sugimasa, N.

1987-01-01

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

Anomaly mediation deformed by axion

Energy Technology Data Exchange (ETDEWEB)

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

2013-05-13

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

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

Directory of Open Access Journals (Sweden)

Adalet Elcin Yildiz

2013-01-01

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

BMP signaling in the human fetal ovary is developmentally regulated and promotes primordial germ cell apoptosis.

Science.gov (United States)

Childs, Andrew J; Kinnell, Hazel L; Collins, Craig S; Hogg, Kirsten; Bayne, Rosemary A L; Green, Samira J; McNeilly, Alan S; Anderson, Richard A

2010-08-01

Primordial germ cells (PGCs) are the embryonic precursors of gametes in the adult organism, and their development, differentiation, and survival are regulated by a combination of growth factors collectively known as the germ cell niche. Although many candidate niche components have been identified through studies on mouse PGCs, the growth factor composition of the human PGC niche has not been studied extensively. Here we report a detailed analysis of the expression of components of the bone morphogenetic protein (BMP) signaling apparatus in the human fetal ovary, from postmigratory PGC proliferation to the onset of primordial follicle formation. We find developmentally regulated and reciprocal patterns of expression of BMP2 and BMP4 and identify germ cells to be the exclusive targets of ovarian BMP signaling. By establishing long-term cultures of human fetal ovaries in which PGCs are retained within their physiological niche, we find that BMP4 negatively regulates postmigratory PGC numbers in the human fetal ovary by promoting PGC apoptosis. Finally, we report expression of both muscle segment homeobox (MSX)1 and MSX2 in the human fetal ovary and reveal a selective upregulation of MSX2 expression in human fetal ovary in response to BMP4, suggesting this gene may act as a downstream effector of BMP-induced apoptosis in the ovary, as in other systems. These data reveal for the first time growth factor regulation of human PGC development in a physiologically relevant context and have significant implications for the development of cultures systems for the in vitro maturation of germ cells, and their derivation from pluripotent stem cells.

A new ontology (structured hierarchy) of human developmental anatomy for the first 7 weeks (Carnegie stages 1-20).

Science.gov (United States)

Bard, Jonathan

2012-11-01

This paper describes a new ontology of human developmental anatomy covering the first 49 days [Carnegie stages (CS)1-20], primarily structured around the parts of organ systems and their development. The ontology includes more than 2000 anatomical entities (AEs) that range from the whole embryo, through organ systems and organ parts down to simple or leaf tissues (groups of cells with the same morphological phenotype), as well as features such as cavities. Each AE has assigned to it a set of facts of the form , with the relationships including starts_at and ends_at (CSs), part_of (there can be several parents) and is_a (this gives the type of tissue, from an organ system down to one of ~ 80 simple tissues predominantly composed of a single cell kind, which is also specified). Leaf tissues also have a develops_from link to its parent tissue. The ontology includes ~14 000 such facts, which are mainly from the literature and an earlier ontology of human developmental anatomy (EHDAA, now withdrawn). The relationships enable these facts to be integrated into a single, complex hierarchy (or mathematical graph) that was made and can be viewed in the OBO-Edit browser (oboedit.org). Each AE has an EHDAA2 ID that may be useful in an informatics context, while the ontology as a whole can be used for organizing databases of human development. It is also a knowledge resource: a user can trace the lineage of any tissue back to the egg, study the changes in cell phenotype that occur as a tissue develops, and use the structure to add further (e.g. molecular) information. The ontology may be downloaded from www.obofoundry.org. Queries and corrections should be sent to j.bard@ed.ac.uk. © 2012 The Author Journal of Anatomy © 2012 Anatomical Society.

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

African Journals Online (AJOL)

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

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

Science.gov (United States)

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.

Eco-Evo-Devo: developmental symbiosis and developmental plasticity as evolutionary agents.

Science.gov (United States)

Gilbert, Scott F; Bosch, Thomas C G; Ledón-Rettig, Cristina

2015-10-01

The integration of research from developmental biology and ecology into evolutionary theory has given rise to a relatively new field, ecological evolutionary developmental biology (Eco-Evo-Devo). This field integrates and organizes concepts such as developmental symbiosis, developmental plasticity, genetic accommodation, extragenic inheritance and niche construction. This Review highlights the roles that developmental symbiosis and developmental plasticity have in evolution. Developmental symbiosis can generate particular organs, can produce selectable genetic variation for the entire animal, can provide mechanisms for reproductive isolation, and may have facilitated evolutionary transitions. Developmental plasticity is crucial for generating novel phenotypes, facilitating evolutionary transitions and altered ecosystem dynamics, and promoting adaptive variation through genetic accommodation and niche construction. In emphasizing such non-genomic mechanisms of selectable and heritable variation, Eco-Evo-Devo presents a new layer of evolutionary synthesis.

Developmental Social Cognitive Neuroscience: Insights from Deafness

Science.gov (United States)

Corina, David; Singleton, Jenny

2009-01-01

The condition of deafness presents a developmental context that provides insight into the biological, cultural, and linguistic factors underlying the development of neural systems that impact social cognition. Studies of visual attention, behavioral regulation, language development, and face and human action perception are discussed. Visually…

MR imaging features of the congenital uterine anomalies

International Nuclear Information System (INIS)

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

2012-01-01

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

Ionospheric Anomaly before Kyushu|Japan Earthquake

Directory of Open Access Journals (Sweden)

YANG Li

2017-05-01

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

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

OpenAIRE

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

2013-01-01

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

Global magnetic anomaly and aurora of Neptune

International Nuclear Information System (INIS)

Cheng, A.F.

1990-01-01

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

DOWN'S ANOMALY.

Science.gov (United States)

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

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

Anomalies and modular invariance in string theory

International Nuclear Information System (INIS)

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

1986-01-01

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

Anomalies of Nuclear Criticality, Revision 6

Energy Technology Data Exchange (ETDEWEB)

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

2010-02-19

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

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

NARCIS (Netherlands)

Steinfeld, Hallie; Cho, Megan T.; Retterer, Kyle; Person, Rick; Schaefer, G. Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G.; van Gassen, Koen L I; Terhal, P. A.; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; Henderson, Lindsay B.; Chung, Wendy K.

Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely

Simple recipe for holographic Weyl anomaly

Energy Technology Data Exchange (ETDEWEB)

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

2017-04-20

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

Bone marrow contributes to epithelial cancers in mice and humans as developmental mimicry.

Science.gov (United States)

Cogle, Christopher R; Theise, Neil D; Fu, Dongtao; Ucar, Deniz; Lee, Sean; Guthrie, Steven M; Lonergan, Jean; Rybka, Witold; Krause, Diane S; Scott, Edward W

2007-08-01

Bone marrow cells have the capacity to contribute to distant organs. We show that marrow also contributes to epithelial neoplasias of the small bowel, colon, and lung, but not the skin. In particular, epithelial neoplasias found in patients after hematopoietic cell transplantations demonstrate that human marrow incorporates into neoplasias by adopting the phenotype of the surrounding neoplastic environment. To more rigorously evaluate marrow contribution to epithelial cancer, we employed mouse models of intestinal and lung neoplasias, which revealed specifically that the hematopoietic stem cell and its progeny incorporate within cancer. Furthermore, this marrow involvement in epithelial cancer does not appear to occur by induction of stable fusion. Whereas previous claims have been made that marrow can serve as a direct source of epithelial neoplasia, our results indicate a more cautionary note, that marrow contributes to cancer as a means of developmental mimicry. Disclosure of Potential Conflicts of Interest is found at the end of this article.

Prevalence and distribution of dental anomalies in orthodontic patients.

Science.gov (United States)

Montasser, Mona A; Taha, Mahasen

2012-01-01

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

Magnetic anomalies in the Cosmonauts Sea, off East Antarctica

Science.gov (United States)

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

2017-12-01

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

Graph anomalies in cyber communications

Energy Technology Data Exchange (ETDEWEB)

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

2011-01-11

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

[Pathology of amniogenesis in the early prenatal period of human development].

Science.gov (United States)

Kulazhenko, V P; Bragina, Z N

1989-08-01

Morphological and, in a number of cases, cytogenetical investigation has been performed in 420 intact embryonal sacs and in embryos 7-8-week-old, obtained at spontaneous abortions (272) and at tubal pregnancy (148). Among these cases 202 (48.1%) intact empty embryonal sacs, 75 (17.9%) embryos with panorganodysplasia, 25 (6%) embryos with isolated developmental defects and 118 (28%) phenotypically normal embryos have been revealed. Pathology of amniogenesis such as aplasia or hypoplasia of the amniotic cavity is noted in 136 (32.4%) cases. Among 75 embryos with panorganodysplasia anomalies such as hypoplasia of the amniotic cavity in combination with a partial extra-amniotic++ position of the embryos in exocelom (10.7%), aplasia (5.3%) or hypoplasia (17.3%) amniotic peduncle is present in 43 (57.3%) observations. Out of 40 such cases at spontaneous abortions, cytogenetically investigated, in 27 (67.5%) chromosomal disorders (tetraploidy, triploidy, autosomal trisomy and monosomy) are revealed. Aplasia and hypoplasia of the amniotic cavity are considered as pathology of histogenesis at the tissue stage of the early human ontogenesis, that most evidently occurs as a result of asplasia, destruction or anomaly of embryoblast during the first phase of gastrulation on the 7th-11th day of the intrauterine development.

Conformal anomaly actions for dilaton interactions

Directory of Open Access Journals (Sweden)

Rose Luigi Delle

2014-01-01

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

Comparative genomic analysis of Drosophila melanogaster and vector mosquito developmental genes.

Directory of Open Access Journals (Sweden)

Susanta K Behura

Full Text Available Genome sequencing projects have presented the opportunity for analysis of developmental genes in three vector mosquito species: Aedes aegypti, Culex quinquefasciatus, and Anopheles gambiae. A comparative genomic analysis of developmental genes in Drosophila melanogaster and these three important vectors of human disease was performed in this investigation. While the study was comprehensive, special emphasis centered on genes that 1 are components of developmental signaling pathways, 2 regulate fundamental developmental processes, 3 are critical for the development of tissues of vector importance, 4 function in developmental processes known to have diverged within insects, and 5 encode microRNAs (miRNAs that regulate developmental transcripts in Drosophila. While most fruit fly developmental genes are conserved in the three vector mosquito species, several genes known to be critical for Drosophila development were not identified in one or more mosquito genomes. In other cases, mosquito lineage-specific gene gains with respect to D. melanogaster were noted. Sequence analyses also revealed that numerous repetitive sequences are a common structural feature of Drosophila and mosquito developmental genes. Finally, analysis of predicted miRNA binding sites in fruit fly and mosquito developmental genes suggests that the repertoire of developmental genes targeted by miRNAs is species-specific. The results of this study provide insight into the evolution of developmental genes and processes in dipterans and other arthropods, serve as a resource for those pursuing analysis of mosquito development, and will promote the design and refinement of functional analysis experiments.

Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study

Science.gov (United States)

Xavier-Neto, Jose; Carvalho, Murilo; Pascoalino, Bruno dos Santos; Cardoso, Alisson Campos; Costa, Ângela Maria Sousa; Pereira, Ana Helena Macedo; Santos, Luana Nunes; Saito, Ângela; Marques, Rafael Elias; Smetana, Juliana Helena Costa; Consonni, Silvio Roberto; Bandeira, Carla; Costa, Vivian Vasconcelos; Bajgelman, Marcio Chaim; de Oliveira, Paulo Sérgio Lopes; Cordeiro, Marli Tenorio; Gonzales Gil, Laura Helena Vega; Pauletti, Bianca Alves; Granato, Daniela Campos; Paes Leme, Adriana Franco; Freitas-Junior, Lucio; Holanda de Freitas, Carolina Borsoi Moraes; Teixeira, Mauro Martins; Bevilacqua, Estela; Franchini, Kleber

2017-01-01

The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses. Early exposure to ZIKV at developmental day 5 (second week in humans) produced complex manifestations of anterior and posterior dysraphia and hydrocephalus, as well as severe malformations and delayed development in 10.5 days post-coitum (dpc) embryos. Exposure to the virus at 7.5–9.5 dpc induces intra-amniotic hemorrhage, widespread edema, and vascular rarefaction, often prominent in the cephalic region. At these stages, most affected embryos/fetuses displayed gross malformations and/or intrauterine growth restriction (IUGR), rather than isolated microcephaly. Disrupted conceptuses failed to achieve normal developmental landmarks and died in utero. Importantly, this is the only model so far to display dysraphia and hydrocephalus, the harbinger of microcephaly in humans, as well as arthrogryposis, a set of abnormal joint postures observed in the human setting. Late exposure to ZIKV at 12.5 dpc failed to produce noticeable malformations. We have thus characterized a developmental window of opportunity for ZIKV-induced teratogenesis encompassing early gastrulation, neurulation and early organogenesis stages. This should not, however, be interpreted as evidence for any safe developmental windows for ZIKV exposure. Late developmental abnormalities correlated with

Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study.

Directory of Open Access Journals (Sweden)

Jose Xavier-Neto

2017-02-01

Full Text Available The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses. Early exposure to ZIKV at developmental day 5 (second week in humans produced complex manifestations of anterior and posterior dysraphia and hydrocephalus, as well as severe malformations and delayed development in 10.5 days post-coitum (dpc embryos. Exposure to the virus at 7.5-9.5 dpc induces intra-amniotic hemorrhage, widespread edema, and vascular rarefaction, often prominent in the cephalic region. At these stages, most affected embryos/fetuses displayed gross malformations and/or intrauterine growth restriction (IUGR, rather than isolated microcephaly. Disrupted conceptuses failed to achieve normal developmental landmarks and died in utero. Importantly, this is the only model so far to display dysraphia and hydrocephalus, the harbinger of microcephaly in humans, as well as arthrogryposis, a set of abnormal joint postures observed in the human setting. Late exposure to ZIKV at 12.5 dpc failed to produce noticeable malformations. We have thus characterized a developmental window of opportunity for ZIKV-induced teratogenesis encompassing early gastrulation, neurulation and early organogenesis stages. This should not, however, be interpreted as evidence for any safe developmental windows for ZIKV exposure. Late developmental abnormalities

Management of Developmentally Disabled Children with Chronic Infections.

Science.gov (United States)

Andersen, Richard D.

1988-01-01

The nature of chronic infections in developmentally disabled children is reviewed, along with appropriate management strategies for care providers and implications for other children. Discussed are herpes simplex virus, cytomegalovirus, hepatitis B virus, and human immunodeficiency virus. (Author/JDD)

Needs for reactivity anomaly monitoring in CRBRP

International Nuclear Information System (INIS)

Bullock, J.B.

1975-01-01

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

Taurine protects methamphetamine-induced developmental angiogenesis defect through antioxidant mechanism

International Nuclear Information System (INIS)

Shao, Xue; Hu, Zhengtao; Hu, Chunyan; Bu, Qian; Yan, Guangyan; Deng, Pengchi; Lv, Lei; Wu, Dan; Deng, Yi; Zhao, Jinxuan; Zhu, Ruiming; Li, Yan; Li, Hongyu; Xu, Youzhi; Yang, Hanshuo; Zhao, Yinglan; Cen, Xiaobo

2012-01-01

Investigations have characterized addictive drug-induced developmental cardiovascular malformation in human, non-human primate and rodent. However, the underlying mechanism of malformation caused by drugs during pregnancy is still largely unknown, and preventive and therapeutic measures have been lacking. Using 1 H NMR spectroscopy, we profiled the metabolites from human embryo endothelial cells exposed to methamphetamine (METH) and quantified a total of 226 peaks. We identified 11 metabolites modified robustly and found that taurine markedly increased. We then validated the hypothesis that this dramatic increase in taurine could attribute to its effect in inhibiting METH-induced developmental angiogenesis defect. Taurine supplement showed a more significant potential than other metabolites in protecting against METH-induced injury in endothelial cells. Taurine strongly attenuated METH-induced inhibition of proliferation and migration in endothelial cells. Furthermore, death rate and vessel abnormality of zebrafish embryos treated with METH were greatly reversed by taurine. In addition, taurine supplement caused a rapid decrease in reactive oxygen species generation and strongly attenuated the excitable arise of antioxidase activities in the beginning of METH exposure prophase. Dysregulations of NF-κB, p-ERK as well as Bax, which reflect apoptosis, cell cycle arrest and oxidative stress in vascular endothelium, were blocked by taurine. Our results provide the first evidence that taurine prevents METH-caused developmental angiogenesis defect through antioxidant mechanism. Taurine could serve as a potential therapeutic or preventive intervention of developmental vascular malformation for the pregnant women with drug use. Highlights: ► Metabonomics findings. ► Abnormal development. ► Dysregulations of key proteins.

Taurine protects methamphetamine-induced developmental angiogenesis defect through antioxidant mechanism

Energy Technology Data Exchange (ETDEWEB)

Shao, Xue; Hu, Zhengtao; Hu, Chunyan; Bu, Qian; Yan, Guangyan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Deng, Pengchi [Analytical and Testing Center, Sichuan University, Chengdu 610041 (China); Lv, Lei [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Wu, Dan [College of Basic and Forensic Medicine, Sichuan University, Chengdu 610041 (China); Deng, Yi; Zhao, Jinxuan; Zhu, Ruiming; Li, Yan; Li, Hongyu; Xu, Youzhi; Yang, Hanshuo; Zhao, Yinglan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Cen, Xiaobo, E-mail: xbcenalan@vip.sina.com [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China)

2012-05-01

Investigations have characterized addictive drug-induced developmental cardiovascular malformation in human, non-human primate and rodent. However, the underlying mechanism of malformation caused by drugs during pregnancy is still largely unknown, and preventive and therapeutic measures have been lacking. Using {sup 1}H NMR spectroscopy, we profiled the metabolites from human embryo endothelial cells exposed to methamphetamine (METH) and quantified a total of 226 peaks. We identified 11 metabolites modified robustly and found that taurine markedly increased. We then validated the hypothesis that this dramatic increase in taurine could attribute to its effect in inhibiting METH-induced developmental angiogenesis defect. Taurine supplement showed a more significant potential than other metabolites in protecting against METH-induced injury in endothelial cells. Taurine strongly attenuated METH-induced inhibition of proliferation and migration in endothelial cells. Furthermore, death rate and vessel abnormality of zebrafish embryos treated with METH were greatly reversed by taurine. In addition, taurine supplement caused a rapid decrease in reactive oxygen species generation and strongly attenuated the excitable arise of antioxidase activities in the beginning of METH exposure prophase. Dysregulations of NF-κB, p-ERK as well as Bax, which reflect apoptosis, cell cycle arrest and oxidative stress in vascular endothelium, were blocked by taurine. Our results provide the first evidence that taurine prevents METH-caused developmental angiogenesis defect through antioxidant mechanism. Taurine could serve as a potential therapeutic or preventive intervention of developmental vascular malformation for the pregnant women with drug use. Highlights: ► Metabonomics findings. ► Abnormal development. ► Dysregulations of key proteins.

Improved prenatal detection of chromosomal anomalies

DEFF Research Database (Denmark)

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

2011-01-01

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

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

Science.gov (United States)

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

2013-01-01

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

Modeling of self-potential anomalies near vertical dikes.

Science.gov (United States)

Fitterman, D.V.

1983-01-01

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

Student-oriented learning: an inquiry-based developmental biology lecture course.

Science.gov (United States)

Malacinski, George M

2003-01-01

In this junior-level undergraduate course, developmental life cycles exhibited by various organisms are reviewed, with special attention--where relevant--to the human embryo. Morphological features and processes are described and recent insights into the molecular biology of gene expression are discussed. Ways are studied in which model systems, including marine invertebrates, amphibia, fruit flies and other laboratory species are employed to elucidate general principles which apply to fertilization, cleavage, gastrulation and organogenesis. Special attention is given to insights into those topics which will soon be researched with data from the Human Genome Project. The learning experience is divided into three parts: Part I is a in which the Socratic (inquiry) method is employed by the instructor (GMM) to organize a review of classical developmental phenomena; Part II represents an in which students study the details related to the surveys included in Part I as they have been reported in research journals; Part III focuses on a class project--the preparation of a spiral bound on a topic of relevance to human developmental biology (e.g.,Textbook of Embryonal Stem Cells). Student response to the use of the Socratic method increases as the course progresses and represents the most successful aspect of the course.

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

Science.gov (United States)

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.

Structure of gauge and gravitational anomalies*

International Nuclear Information System (INIS)

Alvarez-Gaume, L.; Ginsparg, P.

1985-01-01

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

Application of isostatic gravity anomaly in the Yellow Sea area

Science.gov (United States)

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

2017-12-01

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

Axial anomaly at finite temperature and finite density

International Nuclear Information System (INIS)

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

1994-01-01

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

Dental anomalies in primary dentition and their corresponding permanent teeth.

Science.gov (United States)

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

2014-05-01

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

Biophysical detector for definition of anomalies in Semipalatinsk nuclear test site zone

International Nuclear Information System (INIS)

Sokolovskaya, E.V.; Inyushin, V.M.; Kalieva, Zh.A.

2000-01-01

With help of space aero-survey of thermodynamical anomaly (increase of land surface temperature) in Semipalatinsk test site zone is revealed. It was suggested that it is a result of recombination processes of Earth's plasma due to entropy increase in result of plasma fluctuations called by underground nuclear explosions. This hypothesis was checked by means of territory scanning around Semipalatinsk test site with help of biophysical detectors representing isolate fragments of bio-plasma of animal and vegetation origin. It was revealed that there are anomalies in Almaty-Semipalatinsk cities' beam of Ayaguz-Semipalatinsk zone and on Omsk-Semipalatinsk beam on Semenovka-Semipalatinsk section. During passing of areas in close proximity to the nuclear site an increase of micro-currents amplitude in 4-5 μA as well as irregular amplitude change are registered. Although anomalies make up 10 % from geo-plasma's micro-currents initial values, and this value can exert significant influence on human plasma homeostasis for persons living in anomalous regions. It is concluded that it is necessary research of non-radiation effects nature of underground nuclear explosions and its action on biological status of men, animals, plants and soils

Detecting ship targets in spaceborne infrared image based on modeling radiation anomalies

Science.gov (United States)

Wang, Haibo; Zou, Zhengxia; Shi, Zhenwei; Li, Bo

2017-09-01

Using infrared imaging sensors to detect ship target in the ocean environment has many advantages compared to other sensor modalities, such as better thermal sensitivity and all-weather detection capability. We propose a new ship detection method by modeling radiation anomalies for spaceborne infrared image. The proposed method can be decomposed into two stages, where in the first stage, a test infrared image is densely divided into a set of image patches and the radiation anomaly of each patch is estimated by a Gaussian Mixture Model (GMM), and thereby target candidates are obtained from anomaly image patches. In the second stage, target candidates are further checked by a more discriminative criterion to obtain the final detection result. The main innovation of the proposed method is inspired by the biological mechanism that human eyes are sensitive to the unusual and anomalous patches among complex background. The experimental result on short wavelength infrared band (1.560 - 2.300 μm) and long wavelength infrared band (10.30 - 12.50 μm) of Landsat-8 satellite shows the proposed method achieves a desired ship detection accuracy with higher recall than other classical ship detection methods.

Low temperature specific heat anomalies in melanins and tumor melanosomes

Energy Technology Data Exchange (ETDEWEB)

Mizutani, U [Carnegie--Mellon Univ., Pittsburgh; Massalski, T B; McGinness, J E; Corry, P M

1976-02-12

Human malignant melanoma cells obtained at autopsy were used. Data indicate that melanins exhibit a large linear term (50-200 erg g/sup -1/K/sup -2/) and that they seem to undergo a phase transition as indicated by the heat capacity near 1.9/sup 0/K. A table is presented to show low temperature specific heat data for melanin samples. The measurements include two anomalies, a transition and an unusually high linear contribution. (HLW)

Morphometric analysis of human embryos to predict developmental competence

DEFF Research Database (Denmark)

Ziebe, Søren

2013-01-01

pregnancy test, no matter what we choose in the laboratory. Still, both with the increasing complexity of infertile patients treated today and the important focus on reducing multiple pregnancies, it becomes increasingly important to improve our ability to predict the developmental competence of each embryo....... This involves an improved understanding of the basic biology controlling early embryonic development and, over the years, many groups have tried to identify parameters reflecting embryonic competence....

Immunoglobulin variable region sequences of two human monoclonal antibodies directed to an onco-developmental carbohydrate antigen, lactotetraosylceramide (LcOse4Cer).

Science.gov (United States)

Yago, K; Zenita, K; Ohwaki, I; Harada, R; Nozawa, S; Tsukazaki, K; Iwamori, M; Endo, N; Yasuda, N; Okuma, M

1993-11-01

A human monoclonal antibody, 11-50, was generated and was shown to recognize an onco-developmental carbohydrate antigen, LcOse4Cer. The isotype of this antibody was IgM, lambda, similar to the previously known human anti-LcOse4 antibodies, such as IgMWOO and HMST-1. We raised a murine anti-idiotypic antibody G3 (IgG1, kappa) against 11-50, and tested its reactivity towards the affinity purified human polyclonal anti-LcOse4 antibodies prepared from pooled human sera using a Gal beta 1-->3GlcNAc beta-immobilized column. The results indicated that at least a part of the human polyclonal anti-LcOse4 antibodies shared the G3 idiotype with 11-50. We further analyzed the sequence of variable regions of the two anti-LcOse4 antibodies, 11-50 and HMST-1. Sequence analysis of the heavy chain variable regions indicated that the VH regions of these two antibodies were highly homologous to each other (93.5% at the nucleic acid level), and these antibodies utilized the germline genes VH1.9III and hv3005f3 as the VH segments, which are closely related germline genes of the VHIII family. It was noted that these germline VH genes are frequently utilized in fetal B cells. The JH region of both antibodies was encoded by the JH4 gene. For the light chain, the V lambda segments of the two antibodies were 96.3% homologous to each other at the nucleic acid level. The V lambda segments of both antibodies showed the highest homology to the rearranged V lambda gene called V lambda II.DS among reported V lambda genes, while the exact germline V lambda genes encoding the two antibodies were not yet registered in available sequence databanks. The amino acid sequences of the J lambda segments of both antibodies were identical. These results indicate that the two human antibodies recognizing the onco-developmental carbohydrate antigen Lc4 are encoded by the same or very homologous germline genes.

Marine magnetic anomalies off Ratnagiri, Western continental shelf of India

Digital Repository Service at National Institute of Oceanography (India)

Rao, D.G.

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

Network anomaly detection a machine learning perspective

CERN Document Server

Bhattacharyya, Dhruba Kumar

2013-01-01

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

Satellite magnetic anomalies of the Antarctic crust

Directory of Open Access Journals (Sweden)

D. E. Alsdorf

2000-06-01

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

On the trace anomaly of a Weyl fermion

Energy Technology Data Exchange (ETDEWEB)

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

2016-11-29

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

Muon g−2 in anomaly mediated SUSY breaking

International Nuclear Information System (INIS)

Chowdhury, Debtosh; Yokozaki, Norimi

2015-01-01

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

Muon g−2 in anomaly mediated SUSY breaking

Energy Technology Data Exchange (ETDEWEB)

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

2015-08-24

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

Developmental Benefits of Extracurricular Sports Participation Among Brazilian Youth.

Science.gov (United States)

Reverdito, Riller S; Galatti, Larissa R; Carvalho, Humberto M; Scaglia, Alcides J; Côté, Jean; Gonçalves, Carlos E; Paes, Roberto R

2017-10-01

Youth sporting activities have been explored as a way to impact positive personal transformation and development, glaringly demonstrated by world-wide investments in public policies, programs, and projects. We studied positive effects of participation in sports on the developmental assets of 614 adolescents (13.1 ± 1.7 years) actively engaged in extracurricular sport programs targeted at socially disadvantaged youths, from five municipalities across five states of the southern, south-eastern and north-eastern regions of Brazil. Participants responded to a developmental assets questionnaire designed to capture sociodemographic and human development data. Multilevel logistic regression was used to explore associations between years of participation in sport and human development indicators, controlling for age and sex. Our results showed that the quality of the young people's support network and duration of program participation positively influenced sport participation, which, in turn, was associated with willingness to learn. A strong association was also observed between sport participation and developmental assets. Thus, we offer new evidence of a relationship between positive development and environmental factors in which individual and contextual forces can be aligned, and we provide new reference data for developing countries.

Identification, developmental expression and regulation of the Xenopus ortholog of human FANCG/XRCC9.

Science.gov (United States)

Stone, Stacie; Sobeck, Alexandra; van Kogelenberg, Margriet; de Graaf, Bendert; Joenje, Hans; Christian, Jan; Hoatlin, Maureen E

2007-07-01

Fanconi anemia (FA) is associated with variable developmental abnormalities, bone marrow failure and cancer susceptibility. FANCG/XRCC9 is member of the FA core complex, a group of proteins that control the monoubiquitylation of FANCD2, an event that plays a critical role in maintaining genomic stability. Here we report the identification of the Xenopus laevis ortholog of human FANCG (xFANCG), its expression during development, and its molecular interactions with a partner protein, xFANCA. The xFANCG protein sequence is 47% similar to its human ortholog, with highest conservation in the two putative N-terminal leucine zippers and the tetratricopeptide repeat (TPR) motifs. xFANCG is maternally and zygotically transcribed. Prior to the midblastula stage, a single xFANCG transcript is observed but two additional alternatively spliced mRNAs are detected after the midblastula transition. One of the variants is predicted to encode a novel isoform of xFANCG lacking exon 2. The mutual association between FANCG and FANCA required for their nuclear import is conserved in Xenopus egg extracts. Our data demonstrate that interactions between FANCA and FANCG occur at the earliest stage of vertebrate development and raise the possibility that functionally different isoforms of xFANCG may play a role in early development.

Premature feather loss among common tern chicks in Ontario: the return of an enigmatic developmental anomaly

Directory of Open Access Journals (Sweden)

Jennifer M. Arnold

2016-05-01

Full Text Available In July 2014, we observed premature feather loss (PFL among non-sibling, common tern Sterna hirundo chicks between two and four weeks of age at Gull Island in northern Lake Ontario, Canada. Rarely observed in wild birds, to our knowledge PFL has not been recorded in terns since 1974, despite the subsequent banding of hundreds of thousands of tern chicks across North America alone. The prevalence, 5% of chicks (9/167, and extent of feather loss we report is more extreme than in previous reports for common terns but was not accompanied by other aberrant developmental or physical deformities. Complete feather loss from all body areas (wing, tail, head and body occurred over a period of a few days but all affected chicks appeared vigorous and quickly began to grow replacement feathers. All but one chick (recovered dead and submitted for post-mortem most likely fledged 10–20 days after normal fledging age. We found no evidence of feather dystrophy or concurrent developmental abnormalities unusual among affected chicks. Thus, the PFL we observed among common terns in 2014 was largely of unknown origin. There was striking temporal association between the onset of PFL and persistent strong southwesterly winds that caused extensive mixing of near-shore surface water with cool, deep lake waters. One hypothesis is that PFL may have been caused by unidentified pathogens or toxins welling up from these deep waters along the shoreline but current data are insufficient to test this. PFL was not observed among common terns at Gull Island in 2015, although we did observe similar feather loss in a herring gull Larus argentatus chick in that year. Comparison with sporadic records of PFL in other seabirds suggests that PFL may be a rare, but non-specific, response to a range of potential stressors. PFL is now known for gulls, penguins and terns.

Mesotron Decays and the Role of Anomalies

OpenAIRE

Bardeen, William A.

2007-01-01

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

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

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

Dimensional reduction in anomaly mediation

International Nuclear Information System (INIS)

Boyda, Ed; Murayama, Hitoshi; Pierce, Aaron

2002-01-01

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

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

Science.gov (United States)

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

2016-02-01

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

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

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

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

Anomaly General Circulation Models.

Science.gov (United States)

Navarra, Antonio

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

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

Science.gov (United States)

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

2017-09-21

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

Penile Anomalies in Adolescence

Directory of Open Access Journals (Sweden)

Dan Wood

2011-01-01

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

Penile anomalies in adolescence.

Science.gov (United States)

Wood, Dan; Woodhouse, Christopher

2011-03-07

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

20170312 - Computer Simulation of Developmental ...

Science.gov (United States)

Rationale: Recent progress in systems toxicology and synthetic biology have paved the way to new thinking about in vitro/in silico modeling of developmental processes and toxicities, both for embryological and reproductive impacts. Novel in vitro platforms such as 3D organotypic culture models, engineered microscale tissues and complex microphysiological systems (MPS), together with computational models and computer simulation of tissue dynamics, lend themselves to a integrated testing strategies for predictive toxicology. As these emergent methodologies continue to evolve, they must be integrally tied to maternal/fetal physiology and toxicity of the developing individual across early lifestage transitions, from fertilization to birth, through puberty and beyond. Scope: This symposium will focus on how the novel technology platforms can help now and in the future, with in vitro/in silico modeling of complex biological systems for developmental and reproductive toxicity issues, and translating systems models into integrative testing strategies. The symposium is based on three main organizing principles: (1) that novel in vitro platforms with human cells configured in nascent tissue architectures with a native microphysiological environments yield mechanistic understanding of developmental and reproductive impacts of drug/chemical exposures; (2) that novel in silico platforms with high-throughput screening (HTS) data, biologically-inspired computational models of

Thermodynamic mechanism of density anomaly of liquid water

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Makoto eYasutomi

2015-03-01

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

[Surgical treatment of first branchial cleft anomaly].

Science.gov (United States)

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

2005-10-01

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

Chiral anomalies in higher dimensional supersymmetric theories

International Nuclear Information System (INIS)

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

1987-01-01

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

Major congenital anomalies in babies born with Down syndrome

DEFF Research Database (Denmark)

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

2014-01-01

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

Symmetric scaling properties in global surface air temperature anomalies

Science.gov (United States)

Varotsos, Costas A.; Efstathiou, Maria N.

2015-08-01

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

Electroweak gauge anomaly and the new physics scale

International Nuclear Information System (INIS)

Akama, K.; Hattori, T.

1992-01-01

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

Anomaly cancellation condition in abelian lattice gauge theories

International Nuclear Information System (INIS)

Suzuki, Hiroshi

1999-11-01

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

Heat flow anomalies and their interpretation

Science.gov (United States)

Chapman, David S.; Rybach, Ladislaus

1985-12-01

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

Magnetic resonance imaging of pediatric soft-tissue vascular anomalies

International Nuclear Information System (INIS)

Navarro, Oscar M.

2016-01-01

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

Supersymmetric regulators and supercurrent anomalies

International Nuclear Information System (INIS)

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

1980-01-01

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

Singlet deflected anomaly/gauge mediation

International Nuclear Information System (INIS)

Blas, J. de; Delgado, A.

2012-01-01

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

Multicriteria Similarity-Based Anomaly Detection Using Pareto Depth Analysis.

Science.gov (United States)

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

2016-06-01

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

Focal skin defect, limb anomalies and microphthalmia.

NARCIS (Netherlands)

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

2004-01-01

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

Skyrmions and anomalies

International Nuclear Information System (INIS)

Rho, M.

1987-02-01

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

Developmental Education: A Proposed Model For Guidance and Counseling

Science.gov (United States)

Gazda, George M.

1978-01-01

Coins a new term for counselors--"developmental education"--which the author defines as developing specific life-coping skills. The article also examines some ethical questions which are related to this intentional manipulation of the human condition. (Author/HMV)

Prevalence of inner ear anomalies among cochlear implant candidates.

Science.gov (United States)

Aldhafeeri, Ahmad M; Alsanosi, Abdulrahman A

2016-10-01

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

Global anomalies in chiral gauge theories on the lattice

International Nuclear Information System (INIS)

Baer, O.; Campos, I.

2000-01-01

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

CT diagnosis of congenital anomalies of the central nervous system

International Nuclear Information System (INIS)

Mori, Koreaki

1980-01-01

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

Multiple Visceral and Peritoneal Anomalies

Directory of Open Access Journals (Sweden)

Gayathri Prabhu S

2016-07-01

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

Flavorful hybrid anomaly-gravity mediation

International Nuclear Information System (INIS)

Gross, Christian; Hiller, Gudrun

2011-01-01

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

Developmental dyscalculia is related to visuo-spatial memory and inhibition impairment☆

Science.gov (United States)

Szucs, Denes; Devine, Amy; Soltesz, Fruzsina; Nobes, Alison; Gabriel, Florence

2013-01-01

Developmental dyscalculia is thought to be a specific impairment of mathematics ability. Currently dominant cognitive neuroscience theories of developmental dyscalculia suggest that it originates from the impairment of the magnitude representation of the human brain, residing in the intraparietal sulcus, or from impaired connections between number symbols and the magnitude representation. However, behavioral research offers several alternative theories for developmental dyscalculia and neuro-imaging also suggests that impairments in developmental dyscalculia may be linked to disruptions of other functions of the intraparietal sulcus than the magnitude representation. Strikingly, the magnitude representation theory has never been explicitly contrasted with a range of alternatives in a systematic fashion. Here we have filled this gap by directly contrasting five alternative theories (magnitude representation, working memory, inhibition, attention and spatial processing) of developmental dyscalculia in 9–10-year-old primary school children. Participants were selected from a pool of 1004 children and took part in 16 tests and nine experiments. The dominant features of developmental dyscalculia are visuo-spatial working memory, visuo-spatial short-term memory and inhibitory function (interference suppression) impairment. We hypothesize that inhibition impairment is related to the disruption of central executive memory function. Potential problems of visuo-spatial processing and attentional function in developmental dyscalculia probably depend on short-term memory/working memory and inhibition impairments. The magnitude representation theory of developmental dyscalculia was not supported. PMID:23890692

Type II first branchial cleft anomaly.

Science.gov (United States)

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

2013-01-01

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

Anomaly-based Network Intrusion Detection Methods

Directory of Open Access Journals (Sweden)

Pavel Nevlud

2013-01-01

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

Limb anomaly and associated conditions: our clinical experience

Directory of Open Access Journals (Sweden)

Ragavan M

2011-03-01

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

Prenatal irradiation and developmental disorders of the brain

International Nuclear Information System (INIS)

Kameyama, Yoshiro

1987-01-01

The radiation sensitivity of the brain of a growing fetus is higher than that of other organs and tissues. Of the various organs in the human body, the brain has the most complicated structure. The major features of developmental disorders of the brain, which are produced rather easily by external causes, are: (a) the sensitive period for developmental disorders is long, (b) undifferentiated nerve cells are sensitive to external causes and (c) such disorders leads to irreversible functional failures after birth. The malformation of the brain and its relations with the sensitivity are briefly described. Experiments with prenatal animals have shown that major developmental disorders of brain tissue include death of undifferentiated cells, lack of constituent neurons and disturbance in structure of the cortex, and that typical developmental abnormalities include dysgenetic hydrocephaly, microcephalia, etc. Teratological features of histogenetic disorders of the brain are then briefly outlined. Various experimental results on these and other disorders caused by radiations are presented and discussed. Data on fetuses exposed to radiations at Hiroshima and Nagasaki are also given and discussed. The last section of the report deals with risk evaluation. (Nogami, K.)

On the axial anomalies in external tensor fields

International Nuclear Information System (INIS)

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

1985-01-01

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

Recent developments in the path integral approach to anomalies

International Nuclear Information System (INIS)

Fujikawa, Kazuo.

1986-08-01

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

Characteristics of uranium geological anomaly in Northern Guangdong province

International Nuclear Information System (INIS)

Wang Xinwu; Cheng Danping

2001-01-01

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

A relational developmental systems approach to moral development.

Science.gov (United States)

Carpendale, Jeremy I M; Hammond, Stuart I; Atwood, Sherrie

2013-01-01

Morality and cooperation are central to human life. Psychological explanations for moral development and cooperative behavior will have biological and evolutionary dimensions, but they can differ radically in their approach to biology. In particular, many recent proposals have pursued the view that aspects of morality are innate. We briefly review and critique two of these claims. In contrast to these nativist assumptions about the role of biology in morality, we present an alternative approach based on a relational developmental systems view of moral development. The role for biology in this approach is in setting up the conditions--the developmental system--in which forms of interaction and later forms of thinking emerge.

An Unsupervised Deep Hyperspectral Anomaly Detector

Directory of Open Access Journals (Sweden)

Ning Ma

2018-02-01

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

Analyzing Spatiotemporal Anomalies through Interactive Visualization

Directory of Open Access Journals (Sweden)

Tao Zhang

2014-06-01

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

Kohn anomaly in phonon driven superconductors

International Nuclear Information System (INIS)

Das, M P; Chaudhury, R

2014-01-01

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

Developmental Changes in Learning: Computational Mechanisms and Social Influences

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Florian Bolenz

2017-11-01

Full Text Available Our ability to learn from the outcomes of our actions and to adapt our decisions accordingly changes over the course of the human lifespan. In recent years, there has been an increasing interest in using computational models to understand developmental changes in learning and decision-making. Moreover, extensions of these models are currently applied to study socio-emotional influences on learning in different age groups, a topic that is of great relevance for applications in education and health psychology. In this article, we aim to provide an introduction to basic ideas underlying computational models of reinforcement learning and focus on parameters and model variants that might be of interest to developmental scientists. We then highlight recent attempts to use reinforcement learning models to study the influence of social information on learning across development. The aim of this review is to illustrate how computational models can be applied in developmental science, what they can add to our understanding of developmental mechanisms and how they can be used to bridge the gap between psychological and neurobiological theories of development.

An anomaly detector applied to a materials control and accounting system

International Nuclear Information System (INIS)

Whiteson, R.; Kelso, F.; Baumgart, C.; Tunnell, T.W.

1994-01-01

Large amounts of safeguards data are automatically gathered and stored by monitoring instruments used in nuclear chemical processing plants, nuclear material storage facilities, and nuclear fuel fabrication facilities. An integrated safeguards approach requires the ability to identify anomalous activities or states in these data. Anomalies in the data could be indications of error, theft, or diversion of material. The large volume of the data makes analysis and evaluation by human experts very tedious, and the complex and diverse nature of the data makes these tasks difficult to automate. This paper describes the early work in the development of analysis tools to automate the anomaly detection process. Using data from accounting databases, the authors are modeling the normal behavior of processes. From these models they hope to be able to identify activities or data that deviate from that norm. Such tools would be used to reveal trends, identify errors, and recognize unusual data. Thus the expert's attention can be focused directly on significant phenomena

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

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Tine Verreet

2016-01-01

Full Text Available 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.

Correlation between hyperbilirubinemia in term infants and developmental delay in 2-4 year-old children

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Rocky Wilar

2010-06-01

medical record of infants born between 2006-2007 in Division of Neonatology Prof. R.D. Kandoll General Hospital, Manado. Data from the medical record consisted of weeks of gestation, birth weight, Apgar scores, diagnosis of sepsis, congenital anomalies. Tenn infants with appropriate weight for gestational age were visited at their home to undergo developmental screening by Denver II and Vineland Social Maturity Scale test. Results Fifty one children enrolled in this study (26 children with hyperbilirubinemia and 25 without  hyperbilirubinemia consisted of 27 boys and 24 girls. Most children were 24 - 29 months old (24/51. The results of Vineland Social Maturity Scale test showed 14 children had delayed social maturation (10 Mth history of  hyperbilirubinemia. Denver II screening found 11 children had delayed language skill (10 Mth history of hyperbilirubinemia, 1 child Mth hyperbilirubinemia had delayed fine motoric and language skill. Conclusions T here is a relationship between moderate hyperbilirubinemia in tenn infants and developmental delay in 2 - 4 year old children.

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

African Journals Online (AJOL)

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

Dental Anomalies in a Brazilian Cleft Population.

Science.gov (United States)

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

2016-11-01

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

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

Science.gov (United States)

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

2015-02-01

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

Developmental programming and transgenerational transmission of obesity.

Science.gov (United States)

Vickers, M H

2014-01-01

The global obesity pandemic is often causally linked to marked changes in diet and lifestyle, namely marked increases in dietary intakes of high-energy diets and concomitant reductions in physical activity levels. However, far less attention has been paid to the role of developmental plasticity and alterations in phenotypic outcomes resulting from environmental perturbations during the early-life period. Human and animal studies have highlighted the link between alterations in the early-life environment and increased susceptibility to obesity and related metabolic disorders in later life. In particular, altered maternal nutrition, including both undernutrition and maternal obesity, has been shown to lead to transgenerational transmission of metabolic disorders. This association has been conceptualised as the developmental programming hypothesis whereby the impact of environmental influences during critical periods of developmental plasticity can elicit lifelong effects on the physiology of the offspring. Further, evidence to date suggests that this developmental programming is a transgenerational phenomenon, with a number of studies showing transmission of programming effects to subsequent generations, even in the absence of continued environmental stressors, thus perpetuating a cycle of obesity and metabolic disorders. The mechanisms responsible for these transgenerational effects remain poorly understood; evidence to date suggests a number of potential mechanisms underpinning the transgenerational transmission of the developmentally programmed phenotype through both the maternal and paternal lineage. Transgenerational phenotype transmission is often seen as a form of epigenetic inheritance with evidence showing both germline and somatic inheritance of epigenetic modifications leading to phenotype changes across generations. However, there is also evidence for non-genomic components as well as an interaction between the developing fetus with the in utero

Measuring Students' Writing Ability on a Computer-Analytic Developmental Scale: An Exploratory Validity Study

Science.gov (United States)

Burdick, Hal; Swartz, Carl W.; Stenner, A. Jackson; Fitzgerald, Jill; Burdick, Don; Hanlon, Sean T.

2013-01-01

The purpose of the study was to explore the validity of a novel computer-analytic developmental scale, the Writing Ability Developmental Scale. On the whole, collective results supported the validity of the scale. It was sensitive to writing ability differences across grades and sensitive to within-grade variability as compared to human-rated…

Branchial Cleft Anomalies

Science.gov (United States)

McPhail, Neil; Mustard, Robert A.

1966-01-01

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

Neural mechanisms of rapid sensitivity to syntactic anomaly

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Albert E. Kim

2013-03-01

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

Branchial cleft anomalies: CT evaluation

Energy Technology Data Exchange (ETDEWEB)

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

1994-04-15

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

Branchial cleft anomalies: CT evaluation

International Nuclear Information System (INIS)

Seok, Eul Hye; Park, Chan Sup