WorldWideScience

Sample records for human developmental anomalies

  1. Mouse models for understanding human developmental anomalies

    International Nuclear Information System (INIS)

    Generoso, W.M.

    1989-01-01

    The mouse experimental system presents an opportunity for studying the nature of the underlying mutagenic damage and the molecular pathogenesis of this class of anomalies by virtue of the accessibility of the zygote and its descendant blastomeres. Such studies could contribute to the understanding of the etiology of certain sporadic but common human malformations. The vulnerability of the zygotes to mutagens as demonstrated in the studies described in this report should be a major consideration in chemical safety evaluation. It raises questions regarding the danger to human zygotes when the mother is exposed to drugs and environmental chemicals

  2. Intracranial developmental venous anomaly: is it asymptomatic?

    Science.gov (United States)

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

    2018-03-16

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

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

    Science.gov (United States)

    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.

  4. Familial testicular cancer and developmental anomalies

    International Nuclear Information System (INIS)

    Ondrus, D.; Kuba, D.; Chrenova, S.; Matoska, J.

    1997-01-01

    Familial occurrence belongs to factors followed in etiology and pathogenesis of testicular germ-cell tumors. Association with abnormal testicular development, or with other risk factors is relatively frequent. In our material 650 patients had been treated for testicular cancer in the period of 1981-1995. Familial occurrence was observed 7-times (1.08), most frequently in combination with cryptorchidism. Individual families were analyzed in details, including HLA typing. On basis of the observations the supplementation of initial examination of each patient with suspicious testicular cancer with detailed familiar history aimed also at the occurrence of urogenital developmental anomalies and tumors has been recommended. The knowledge about familial tumor occurrence in the first-degree relatives in combination with thorough testicular self-examination is being considered of great importance in the secondary prevention. (author)

  5. 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.)

  6. Developmental venous anomaly in the newborn brain

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  7. Parenchymal abnormalities associated with developmental venous anomalies

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  8. Prevalence of dental developmental anomalies: a radiographic study.

    Science.gov (United States)

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

    2007-09-01

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

  9. Frequency and distribution of developmental anomalies in the permanent teeth of a Turkish orthodontic patient population

    Directory of Open Access Journals (Sweden)

    Fatih Kazanci

    2011-06-01

    Conclusion: The prevalence of developmental dental anomalies was higher in females than males. Impacted teeth were the most common developmental dental anomaly in this Turkish orthodontic population, followed by hypodontia.

  10. 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.

  11. Frequency of developmental dental anomalies in the Indian population.

    Science.gov (United States)

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

    2010-07-01

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

  12. Awareness of Breast Developmental Anomalies: A Study in Jamasi, Ghana

    OpenAIRE

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

    2011-01-01

    Background 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. Methods 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. Results Of the 600 female studen...

  13. An unusual cause of hydrocephalus: aqueductal developmental venous anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Yagmurlu, Banu; Fitoz, Suat; Atasoy, Cetin; Erden, ilhan [Ankara University School of Medicine, Department of Radiology, Ankara (Turkey); Deda, Gulhis; Unal, Ozlem [Ankara University School of Medicine, Division of Pediatric Neurology, Ankara (Turkey)

    2005-06-01

    Vascular malformations are infrequent causes of aqueductal stenoses, developmental venous anomaly (DVA) being the rarest among them. DVAs, also known as venous angiomas, are congenital in origin and characterized by dilatation of vessels in the superficial and deep venous system. Although they are usually clinically silent, they can be complicated by hemorrhage, seizures and neurologic deficits. Herein, we report MR imaging findings of a 7-year-old girl whose hydrocephalus was due to an abnormal vein coursing through the aqueduct. (orig.)

  14. Incomplete inversion of the hippocampus - a common developmental anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Bajic, Dragan; Wang, Chen; Raininko, Raili [Uppsala University Hospital, Department of Radiology, Uppsala (Sweden); Kumlien, Eva; Mattsson, Peter [Uppsala University Hospital, Department of Neurology, Uppsala (Sweden); Lundberg, Staffan; Eeg-Olofsson, Orvar [Uppsala University Hospital, Department of Child Neurology, Uppsala (Sweden)

    2008-01-15

    Incomplete inversion of the hippocampus, an imperfect fetal development, has been described in patients with epilepsy or severe midline malformations. We studied this condition in a nonepileptic population without obvious developmental anomalies. We analyzed the coronal MR images of 50 women and 50 men who did not have epilepsy. Twenty of them were healthy volunteers and 80 were patients without obvious intracranial developmental anomalies, intracranial masses, hydrocephalus or any condition affecting the temporal lobes. If the entire hippocampus (the head could not be evaluated) were affected, the incomplete inversion was classified as total, otherwise as partial. Incomplete inversion of the hippocampus was found in 19/100 subjects (9 women, 10 men). It was unilateral, always on the left side, in 13 subjects (4 women, 9 men): 9 were of the total type, 4 were partial. It was bilateral in six subjects (five women, one man): four subjects had total types bilaterally, two had a combination of total and partial types. The collateral sulcus was vertically oriented in all subjects with a deviating hippocampal shape. We conclude that incomplete inversion of the hippocampus is not an unusual morphologic variety in a nonepileptic population without other obvious intracranial developmental anomalies. (orig.)

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

    Science.gov (United States)

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

    2011-06-01

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

  16. 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.

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

    Science.gov (United States)

    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.

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

    NARCIS (Netherlands)

    Roccatagliata, Luca; van den Berg, René; Soderman, Michael; Boulin, Anne; Condette-Auliac, Stéphanie; 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.

  19. Prevalence of dental developmental anomalies of permanent teeth in children and their influence on esthetics.

    Science.gov (United States)

    Fekonja, Anita

    2017-07-08

    The aim of this study was to determine the prevalence of dental developmental anomalies in permanent teeth and their influence on esthetics. The records of 473 subjects, which comprised of orthopantomograms, clinical examination, and anamnestic data, were explored for dental developmental anomalies. Subjects with dental anomalies completed the modified questionnaire. Data on reasons for seeking the treatment as well as factors affecting the patients' satisfaction were collected. The data were processed using the Chi-square test. It was found that 79 subjects (16.7%) had at least 1 dental developmental anomaly. The most common anomalies were hypodontia (7.2%), followed by talon cusps (3.4%), and microdontia (2.5%). Hypodontia, microdontia, and talon cusps were found more prevalent in females than males, whereas hyperdontia and macrodontia were more common in males. The reason for dissatisfaction with their smile in most cases was due to missing teeth or spacing between anterior teeth (excess space 2.9 mm ± 1.1 mm), followed by crowding of anterior teeth (lack of space 3.1 mm ± 0.8mm), difficulty maintaining oral hygiene and midline asymmetry (1.8 mm ± 0.9 mm). All subjects were treated using a fixed orthodontic appliance and 30 (37.9%) of them had additional dental specialists included to achieve good esthetics and function. Overall, 92.4% of subjects were satisfied with their resulting appearance after treatment. Dental developmental anomalies are clinically evident abnormalities. They may be the cause of various dental problems and can influence esthetics and the development of orthodontic problems. This paper evaluates the distribution of dental developmental anomalies and their influence on esthetics and function. Careful observation and appropriate investigation are required to diagnose the condition and institute treatment. The therapeutic approach to some dental anomalies should be interdisciplinary. © 2017 Wiley Periodicals, Inc.

  20. Evaluation of dental age and associated developmental anomalies in subjects with impacted mandibular canines.

    Science.gov (United States)

    Jain, Shikha; Shetty, K Sadashiva; Jain, Shweta; Jain, Sachin; Prakash, A T; Agrawal, Mamta

    2015-07-01

    To assess the null hypothesis that there is no difference in the rate of dental development and the occurrence of selected developmental anomalies related to shape, number, structure, and position of teeth between subjects with impacted mandibular canines and those with normally erupted canines. Pretreatment records of 42 subjects diagnosed with mandibular canines impaction (impaction group: IG) were compared with those of 84 subjects serving as a control reference sample (control group: CG). Independent t-tests were used to compare mean dental ages between the groups. Intergroup differences in distribution of subjects based on the rate of dental development and occurrence of selected dental anomalies were assessed using χ(2) tests. Odds of late, normal, and early developers and various categories of developmental anomalies between the IG and the CG were evaluated in terms of odds ratios. Mean dental age for the IG was lower than that for the CG in general. Specifically, this was true for girls (P dental development and occurrence of positional anomalies also reached statistical significance (P anomalies compared with controls (odds ratios 3.00 and 2.82, respectively; P dental development compared with the female orthodontic patients. Increased frequency of positional developmental anomalies was also remarkable in the IG.

  1. Developmental anomaly of the hyoid bone: an unusual cause of dysphagia

    International Nuclear Information System (INIS)

    Bayadjian, A.; Marsot-Dupuch, K.; Schmitt, E.; Chouard, Ch.; Tubiana, J.M.

    2001-01-01

    We report the case of a hyoid syndrome caused by a developmental anomaly of the second branchial cleft, presenting at adult age by dysphagia without any abnormality detected at the barium swallow and at naso-pharyngeal endoscopy, first examinations to perform in case of dysphagia. The MRI findings of this anomaly showed a hyperintense well-limited vallecular mass syndrome. The diagnosis of hyoid bone anomaly was established at spiral CT with 3-D reconstructions showing an incurvated and elongated lesser cornua causing persistent impingement on the lateral wall of the oropharynx. CT scan performed during Valsalva maneuver showed the persistence of the compression during pharyngeal insufflation. (author)

  2. Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

    Science.gov (United States)

    Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

    2017-09-01

    Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

  3. 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

  4. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

    Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  6. What the Neurosurgeon needs to know about Cerebral Developmental Venous anomalies

    Directory of Open Access Journals (Sweden)

    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

  7. 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

  8. Developmental anomaly of the hyoid bone: an unusual cause of dysphagia; Anomalie de developpement de l'os hyoide: une cause inhabituelle de dysphagie

    Energy Technology Data Exchange (ETDEWEB)

    Bayadjian, A.; Marsot-Dupuch, K.; Schmitt, E.; Chouard, Ch.; Tubiana, J.M. [Hopital Saint Antoine, 75 - Paris (France)

    2001-04-01

    We report the case of a hyoid syndrome caused by a developmental anomaly of the second branchial cleft, presenting at adult age by dysphagia without any abnormality detected at the barium swallow and at naso-pharyngeal endoscopy, first examinations to perform in case of dysphagia. The MRI findings of this anomaly showed a hyperintense well-limited vallecular mass syndrome. The diagnosis of hyoid bone anomaly was established at spiral CT with 3-D reconstructions showing an incurvated and elongated lesser cornua causing persistent impingement on the lateral wall of the oropharynx. CT scan performed during Valsalva maneuver showed the persistence of the compression during pharyngeal insufflation. (author)

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

    Science.gov (United States)

    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

  10. The Dens: Normal Development, Developmental Variants and Anomalies, and Traumatic Injuries

    Directory of Open Access Journals (Sweden)

    William T O′Brien

    2015-01-01

    Full Text Available Accurate interpretation of cervical spine imagining can be challenging, especially in children and the elderly. The biomechanics of the developing pediatric spine and age-related degenerative changes predispose these patient populations to injuries centered at the craniocervical junction. In addition, congenital anomalies are common in this region, especially those associated with the axis/dens, due to its complexity in terms of development compared to other vertebral levels. The most common congenital variations of the dens include the os odontoideum and a persistent ossiculum terminale. At times, it is necessary to distinguish normal development, developmental variants, and developmental anomalies from traumatic injuries in the setting of acute traumatic injury. Key imaging features are useful to differentiate between traumatic fractures and normal or variant anatomy acutely; however, the radiologist must first have a basic understanding of the spectrum of normal developmental anatomy and its anatomic variations in order to make an accurate assessment. This review article attempts to provide the basic framework required for accurate interpretation of cervical spine imaging with a focus on the dens, specifically covering the normal development and ossification of the dens, common congenital variants and their various imaging appearances, fracture classifications, imaging appearances, and treatment options.

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

    Science.gov (United States)

    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.

  12. 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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

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

    Science.gov (United States)

    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.

  15. Prevalence of developmental dental hard-tissue anomalies and association with caries and oral hygiene status of children in Southwestern, Nigeria.

    Science.gov (United States)

    Popoola, Bamidele O; Onyejaka, Nneka; Folayan, Morenike O

    2016-07-07

    Developmental dental hard tissue anomalies are often associated with oral health problems. This study determined the clinical prevalence of developmental dental hard tissue anomalies in the permanent dentition of children resident in southwestern Nigeria and its association with dental caries and poor oral hygiene status. This was a cross-sectional study recruiting 1565 school children, 12 to 15 year old attending schools in Ibadan, Oyo State and Ile-Ife, Osun State. All eligible study participants had oral examinations conducted to determine presence of developmental hard dental tissue anomalies, caries and oral hygiene status. The prevalence of developmental dental hard tissue anomalies was determined. Logistic Poisson regression was used to determine the association of between developmental dental hard tissue anomalies, caries and oral hygiene status. Only 65 (4.2 %) children had clinically diagnosed developmental dental hard tissue anomalies. The most prevalent anomaly was enamel hypoplasia (2.2 %). More females (p = 0.003) and more children with middle socioeconomic class (p = 0.001) had enamel hypoplasia. The probability of having poor oral hygiene was significantly increased for children with developmental dental anomalies (APR: 0.07; 95 % CI: 0.03 - 0.12; p = 0.002). The probability of having caries was insignificantly increased for children with developmental dental hard tissue anomalies (APR: 0.005; 95 % CI: -0.03 - 0.04; p = 0.08). The most prevalence clinically detectable developmental dental hard tissue anomalies for the study population was enamel hypoplasia. The presence of developmental dental hard tissue anomalies significantly increased the chances of having poor oral hygiene but not caries. Further studies are required to understand if poor oral hygiene is associated with dental caries in children with developmental dental hard tissue anomalies.

  16. 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.)

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

    Science.gov (United States)

    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.

  18. 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.

  19. 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.

  20. 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.)

  1. 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.)

  2. 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)

  3. 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

  4. 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

  5. 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

  6. 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.

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

    Science.gov (United States)

    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.

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

    OpenAIRE

    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...

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

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

    2013-05-01

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

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

    Science.gov (United States)

    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).

  12. 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.)

  13. 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.)

  14. 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.

  15. 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...

  16. 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...

  17. 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.

  18. Bayesian versus politically motivated reasoning in human perception of climate anomalies

    Science.gov (United States)

    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.

  19. 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.

  20. 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.

  1. 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.

  2. 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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  5. 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.)

  6. 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.)

  7. PTK7 marks the first human developmental EMT in vitro.

    Directory of Open Access Journals (Sweden)

    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.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

  11. 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.

  12. 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

  13. Developmental gene expression profiles of the human pathogen Schistosoma japonicum

    Directory of Open Access Journals (Sweden)

    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.

  14. Translating Developmental Principles to Generate Human Gastric Organoids

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

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

    2015-11-01

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

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. Human Brain inspired Artificial Intelligence & Developmental Robotics: A Review

    Directory of Open Access Journals (Sweden)

    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.

  5. 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.

  6. 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

  7. Dental Anomalies: An Update

    Directory of Open Access Journals (Sweden)

    Fatemeh Jahanimoghadam

    2016-01-01

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

  8. 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

  9. 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....

  10. 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.

  11. Human developmental enhancers conserved between deuterostomes and protostomes.

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

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

    Science.gov (United States)

    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"…

  14. 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…

  15. Evidence for developmental programming of cerebral laterality in humans.

    Directory of Open Access Journals (Sweden)

    Alexander Jones

    2011-02-01

    Full Text Available Adverse fetal environments are associated with depression, reduced cognitive ability and increased stress responsiveness in later life, but underlying mechanisms are unknown. Environmental pressures on the fetus, resulting from variations in placental function and maternal nutrition, health and stress might alter neurodevelopment, promoting the development of some brain regions over others. As asymmetry of cerebral activity, with greater right hemisphere activity, has been associated with psychopathology, we hypothesized that regional specialization during fetal life might be reflected persistently in the relative activity of the cerebral hemispheres. We tested this hypothesis in 140 healthy 8-9 year-old children, using tympanic membrane temperature to assess relative blood flow to the cerebral hemispheres at rest and following psychosocial stress (Trier Social Stress Test for Children. Their birth weight and placental weight had already been measured when their mothers took part in a previous study of pregnancy outcomes. We found that children who had a smaller weight at birth had evidence of greater blood flow to the right hemisphere than to the left hemisphere (r = -.09, P = .29 at rest; r = -.18, P = .04 following stress. This finding was strengthened if the children had a relatively low birth weight for their placental weight (r = -.17, P = .05 at rest; r = -.31, P = .0005 following stress. Our findings suggest that lateralization of cerebral activity is influenced persistently by early developmental experiences, with possible consequences for long-term neurocognitive function.

  16. Developmental plasticity and its relevance to assisted human reproduction

    NARCIS (Netherlands)

    Roseboom, Tessa J.

    2018-01-01

    The advent of assisted reproduction has allowed the conception of millions of individuals who otherwise would not have existed. Although most ART children are born healthy, there is increasing awareness of the plasticity of the human embryo causing concerns about potential long-term consequences of

  17. Translating Developmental Principles to Generate Human Gastric Organoids

    OpenAIRE

    Alexandra K. Eicher; H. Matthew Berns; James M. Wells

    2018-01-01

    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...

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. 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.

  11. RFID-Based Human Behavior Modeling and Anomaly Detection for Elderly Care

    Directory of Open Access Journals (Sweden)

    Hui-Huang Hsu

    2010-01-01

    Full Text Available This research aimed at building an intelligent system that can detect abnormal behavior for the elderly at home. Active RFID tags can be deployed at home to help collect daily movement data of the elderly who carries an RFID reader. When the reader detects the signals from the tags, RSSI values that represent signal strength are obtained. The RSSI values are reversely related to the distance between the tags and the reader and they are recorded following the movement of the user. The movement patterns, not the exact locations, of the user are the major concern. With the movement data (RSSI values, the clustering technique is then used to build a personalized model of normal behavior. After the model is built, any incoming datum outside the model can be viewed as abnormal and an alarm can be raised by the system. In this paper, we present the system architecture for RFID data collection and preprocessing, clustering for anomaly detection, and experimental results. The results show that this novel approach is promising.

  12. 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.

  13. 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].

  14. 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

  15. 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.

  16. 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.

  17. Developmental problems and their solution for the Space Shuttle main engine alternate liquid oxygen high-pressure turbopump: Anomaly or failure investigation the key

    Science.gov (United States)

    Ryan, R.; Gross, L. A.

    1995-05-01

    The Space Shuttle main engine (SSME) alternate high-pressure liquid oxygen pump experienced synchronous vibration and ball bearing life problems that were program threatening. The success of the program hinged on the ability to solve these development problems. The design and solutions to these problems are engirded in the lessons learned and experiences from prior programs, technology programs, and the ability to properly conduct failure or anomaly investigations. The failure investigation determines the problem cause and is the basis for recommending design solutions. For a complex problem, a comprehensive solution requires that formal investigation procedures be used, including fault trees, resolution logic, and action items worked through a concurrent engineering-multidiscipline team. The normal tendency to use an intuitive, cut-and-try approach will usually prove to be costly, both in money and time and will reach a less than optimum, poorly understood answer. The SSME alternate high-pressure oxidizer turbopump development has had two complex problems critical to program success: (1) high synchronous vibrations and (2) excessive ball bearing wear. This paper will use these two problems as examples of this formal failure investigation approach. The results of the team's investigation provides insight into the complexity of the turbomachinery technical discipline interacting/sensitivities and the fine balance of competing investigations required to solve problems and guarantee program success. It is very important to the solution process that maximum use be made of the resources that both the contractor and Government can bring to the problem in a supporting and noncompeting way. There is no place for the not-invented-here attitude. The resources include, but are not limited to: (1) specially skilled professionals; (2) supporting technologies; (3) computational codes and capabilities; and (4) test and manufacturing facilities.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. Ultra-high-resolution C-arm flat-detector CT angiography evaluation reveals 3-fold higher association rate for sporadic intracranial cavernous malformations and developmental venous anomalies: a retrospective study in consecutive 58 patients with 60 cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kocak, Burak [Aksaray State Hospital, Department of Radiology, Aksaray (Turkey); Kizilkilic, Osman; Kocer, Naci; Islak, Civan [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty, Istanbul (Turkey); Oz, Buge; Bakkaloglu, Dogu Vuralli [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty, Istanbul (Turkey); Isler, Cihan [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical Faculty, Istanbul (Turkey)

    2017-06-15

    The imaging and surgical literature has confusing association rates for the association between sporadic intracranial cavernous malformations (CMs) and developmental venous anomalies (DVAs). In this study, our purpose was to determine the association rate using ultra-high-resolution C-arm flat-detector CT angiography (FDCTA) and compare it with literature. Fifty-eight patients with 60 sporadic intracranial CMs that underwent an FDCTA study were included in our retrospective study. Re-evaluation of radiological data was performed based on the criteria defined by authors. Isotropic volumetric reconstructions with ultra-high resolution (voxel size of 102 μm{sup 3} for initial; 67 μm{sup 3} and 32 μm{sup 3} for further evaluation) were used for assessment. Sixteen patients underwent surgery for excision of their CMs. Fifty-one of all patients (87.9 %) were associated with a DVA. Undefined local venous structures (UD-LVSs) were observed in the remaining 7 patients (12.1 %). The strength of interobserver agreement was excellent [kappa(k) coefficient = 0.923]. Ultra-high-resolution FDCTA evaluation of CMs and DVAs reveals 3-fold higher association rate compared to the literature. FDCTA for patients with sporadic CMs could help identify the associated DVAs that remained undetected or unclear with other imaging modalities, which can be useful in decision-making processes, planning surgery, and during operation. (orig.)

  4. 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)…

  5. 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.

  6. 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.

  7. 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...

  8. 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...

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

    Directory of Open Access Journals (Sweden)

    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

  10. 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

  11. 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

  12. Morphological and Molecular Descriptors of the Developmental Cycle of Babesia divergens Parasites in Human Erythrocytes.

    Directory of Open Access Journals (Sweden)

    Ingrid Rossouw

    2015-05-01

    Full Text Available Human babesiosis, especially caused by the cattle derived Babesia divergens parasite, is on the increase, resulting in renewed attentiveness to this potentially life threatening emerging zoonotic disease. The molecular mechanisms underlying the pathophysiology and intra-erythrocytic development of these parasites are poorly understood. This impedes concerted efforts aimed at the discovery of novel anti-babesiacidal agents. By applying sensitive cell biological and molecular functional genomics tools, we describe the intra-erythrocytic development cycle of B. divergens parasites from immature, mono-nucleated ring forms to bi-nucleated paired piriforms and ultimately multi-nucleated tetrads that characterizes zoonotic Babesia spp. This is further correlated for the first time to nuclear content increases during intra-erythrocytic development progression, providing insight into the part of the life cycle that occurs during human infection. High-content temporal evaluation elucidated the contribution of the different stages to life cycle progression. Moreover, molecular descriptors indicate that B. divergens parasites employ physiological adaptation to in vitro cultivation. Additionally, differential expression is observed as the parasite equilibrates its developmental stages during its life cycle. Together, this information provides the first temporal evaluation of the functional transcriptome of B. divergens parasites, information that could be useful in identifying biological processes essential to parasite survival for future anti-babesiacidal discoveries.

  13. 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.

  14. 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.

  15. 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...

  16. Targeting developmental regulators of zebrafish exocrine pancreas as a therapeutic approach in human pancreatic cancer

    Directory of Open Access Journals (Sweden)

    Nelson S. Yee

    2012-02-01

    Histone deacetylases (HDACs and RNA polymerase III (POLR3 play vital roles in fundamental cellular processes, and deregulation of these enzymes has been implicated in malignant transformation. Hdacs and Polr3 are required for exocrine pancreatic epithelial proliferation during morphogenesis in zebrafish. We aim to test the hypothesis that Hdacs and Polr3 cooperatively control exocrine pancreatic growth, and combined inhibition of HDACs and POLR3 produces enhanced growth suppression in pancreatic cancer. In zebrafish larvae, combination of a Hdac inhibitor (Trichostatin A and an inhibitor of Polr3 (ML-60218 synergistically prohibited the expansion of exocrine pancreas. In human pancreatic adenocarcinoma cells, combination of the HDAC inhibitor suberoylanilide hydroxamic acid (SAHA and ML-60218 produced augmented suppression of colony formation and proliferation, and induction of cell cycle arrest and apoptotic cell death. The enhanced cytotoxicity was associated with supra-additive upregulation of the pro-apoptotic regulator BAX and the cyclin-dependent kinase inhibitor p21CDKN1A. tRNAs have been shown to have pro-proliferative and anti-apoptotic roles, and SAHA-stimulated expression of tRNAs was reversed by ML-60218. These findings demonstrate that chemically targeting developmental regulators of exocrine pancreas can be translated into an approach with potential impact on therapeutic response in pancreatic cancer, and suggest that counteracting the pro-malignant side effect of HDAC inhibitors can enhance their anti-tumor activity.

  17. PERT: A Method for Expression Deconvolution of Human Blood Samples from Varied Microenvironmental and Developmental Conditions

    Science.gov (United States)

    Csaszar, Elizabeth; Yu, Mei; Morris, Quaid; Zandstra, Peter W.

    2012-01-01

    The cellular composition of heterogeneous samples can be predicted using an expression deconvolution algorithm to decompose their gene expression profiles based on pre-defined, reference gene expression profiles of the constituent populations in these samples. However, the expression profiles of the actual constituent populations are often perturbed from those of the reference profiles due to gene expression changes in cells associated with microenvironmental or developmental effects. Existing deconvolution algorithms do not account for these changes and give incorrect results when benchmarked against those measured by well-established flow cytometry, even after batch correction was applied. We introduce PERT, a new probabilistic expression deconvolution method that detects and accounts for a shared, multiplicative perturbation in the reference profiles when performing expression deconvolution. We applied PERT and three other state-of-the-art expression deconvolution methods to predict cell frequencies within heterogeneous human blood samples that were collected under several conditions (uncultured mono-nucleated and lineage-depleted cells, and culture-derived lineage-depleted cells). Only PERT's predicted proportions of the constituent populations matched those assigned by flow cytometry. Genes associated with cell cycle processes were highly enriched among those with the largest predicted expression changes between the cultured and uncultured conditions. We anticipate that PERT will be widely applicable to expression deconvolution strategies that use profiles from reference populations that vary from the corresponding constituent populations in cellular state but not cellular phenotypic identity. PMID:23284283

  18. Development anomaly and non-vitality: Two case reports

    Directory of Open Access Journals (Sweden)

    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.

  19. 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.

  20. 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

  1. Dyonic anomalies

    International Nuclear Information System (INIS)

    Henningson, Mans; Johansson, Erik P.G.

    2005-01-01

    We consider the problem of coupling a dyonic p-brane in d=2p+4 space-time dimensions to a prescribed (p+2)-form field strength. This is particularly subtle when p is odd. For the case p=1, we explicitly construct a coupling functional, which is a sum of two terms: one which is linear in the prescribed field strength, and one which describes the coupling of the brane to its self-field and takes the form of a Wess-Zumino term depending only on the embedding of the brane world-volume into space-time. We then show that this functional is well-defined only modulo a certain anomaly, related to the Euler class of the normal bundle of the brane world-volume

  2. 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...

  3. 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.

  4. 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.

  5. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    NARCIS (Netherlands)

    Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

    2017-01-01

    In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

  6. Classic and Golli Myelin Basic Protein have distinct developmental trajectories in human visual cortex.

    Science.gov (United States)

    Siu, Caitlin R; Balsor, Justin L; Jones, David G; Murphy, Kathryn M

    2015-01-01

    Traditionally, myelin is viewed as insulation around axons, however, more recent studies have shown it also plays an important role in plasticity, axonal metabolism, and neuroimmune signaling. Myelin is a complex multi-protein structure composed of hundreds of proteins, with Myelin Basic Protein (MBP) being the most studied. MBP has two families: Classic-MBP that is necessary for activity driven compaction of myelin around axons, and Golli-MBP that is found in neurons, oligodendrocytes, and T-cells. Furthermore, Golli-MBP has been called a "molecular link" between the nervous and immune systems. In visual cortex specifically, myelin proteins interact with immune processes to affect experience-dependent plasticity. We studied myelin in human visual cortex using Western blotting to quantify Classic- and Golli-MBP expression in post-mortem tissue samples ranging in age from 20 days to 80 years. We found that Classic- and Golli-MBP have different patterns of change across the lifespan. Classic-MBP gradually increases to 42 years and then declines into aging. Golli-MBP has early developmental changes that are coincident with milestones in visual system sensitive period, and gradually increases into aging. There are three stages in the balance between Classic- and Golli-MBP expression, with Golli-MBP dominating early, then shifting to Classic-MBP, and back to Golli-MBP in aging. Also Golli-MBP has a wave of high inter-individual variability during childhood. These results about cortical MBP expression are timely because they compliment recent advances in MRI techniques that produce high resolution maps of cortical myelin in normal and diseased brain. In addition, the unique pattern of Golli-MBP expression across the lifespan suggests that it supports high levels of neuroimmune interaction in cortical development and in aging.

  7. Developmentally inspired programming of adult human mesenchymal stromal cells toward stable chondrogenesis.

    Science.gov (United States)

    Occhetta, Paola; Pigeot, Sebastien; Rasponi, Marco; Dasen, Boris; Mehrkens, Arne; Ullrich, Thomas; Kramer, Ina; Guth-Gundel, Sabine; Barbero, Andrea; Martin, Ivan

    2018-05-01

    It is generally accepted that adult human bone marrow-derived mesenchymal stromal cells (hMSCs) are default committed toward osteogenesis. Even when induced to chondrogenesis, hMSCs typically form hypertrophic cartilage that undergoes endochondral ossification. Because embryonic mesenchyme is obviously competent to generate phenotypically stable cartilage, it is questioned whether there is a correspondence between mesenchymal progenitor compartments during development and in adulthood. Here we tested whether forcing specific early events of articular cartilage development can program hMSC fate toward stable chondrogenesis. Inspired by recent findings that spatial restriction of bone morphogenetic protein (BMP) signaling guides embryonic progenitors toward articular cartilage formation, we hypothesized that selective inhibition of BMP drives the phenotypic stability of hMSC-derived chondrocytes. Two BMP type I receptor-biased kinase inhibitors were screened in a microfluidic platform for their time- and dose-dependent effect on hMSC chondrogenesis. The different receptor selectivity profile of tested compounds allowed demonstration that transient blockade of both ALK2 and ALK3 receptors, while permissive to hMSC cartilage formation, is necessary and sufficient to maintain a stable chondrocyte phenotype. Remarkably, even upon compound removal, hMSCs were no longer competent to undergo hypertrophy in vitro and endochondral ossification in vivo, indicating the onset of a constitutive change. Our findings demonstrate that adult hMSCs effectively share properties of embryonic mesenchyme in the formation of transient but also of stable cartilage. This opens potential pharmacological strategies to articular cartilage regeneration and more broadly indicates the relevance of developmentally inspired protocols to control the fate of adult progenitor cell systems.

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. Human embryonic stem cell-derived test systems for developmental neurotoxicity: A transcriptomics approach

    NARCIS (Netherlands)

    Krug, A.K.; Kolde, R.; Gaspar, J.A.; Rempel, E.; Balmer, N.V.; Meganathan, K.; Vojnits, K.; Baquié, M.; Waldmann, T.; Ensenat-Waser, R.; Jagtap, S.; Evans, R.M.; Julien, S.; Peterson, H.; Zagoura, D.; Kadereit, S.; Gerhard, D.; Sotiriadou, I.; Heke, M.; Natarajan, K.; Henry, M.; Winkler, J.; Marchan, R.; Stoppini, L.; Bosgra, S.; Westerhout, J.; Verwei, M.; Vilo, J.; Kortenkamp, A.; Hescheler, J.; Hothorn, L.; Bremer, S.; Thriel, C. van; Krause, K.-H.; Hengstler, J.G.; Rahnenführer, J.; Leist, M.; Sachinidis, A.

    2013-01-01

    Developmental neurotoxicity (DNT) and many forms of reproductive toxicity (RT) often manifest themselves in functional deficits that are not necessarily based on cell death, but rather on minor changes relating to cell differentiation or communication. The fields of DNT/RT would greatly benefit from

  13. 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.

  14. 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...

  15. 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

  16. 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

  17. 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

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

  2. Coronary Artery Anomalies in Animals

    Directory of Open Access Journals (Sweden)

    Brian A. Scansen

    2017-04-01

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

  3. 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

  4. A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans, but not mice.

    Directory of Open Access Journals (Sweden)

    Jing He

    Full Text Available The Deleted in Azoospermia gene family encodes three germ cell-specific RNA-binding proteins (DAZ, DAZL and BOLL that are essential for gametogenesis in diverse species. Targeted disruption of Boll in mice causes male-specific spermiogenic defects, but females are apparently fertile. Overexpression of human BOLL promotes the derivation of germ cell-like cells from genetically female (XX, but not male (XY human ES cells however, suggesting a functional role for BOLL in regulating female gametogenesis in humans. Whether BOLL is expressed during oogenesis in mammals also remains unclear. We have therefore investigated the expression of BOLL during fetal oogenesis in humans and mice. We demonstrate that BOLL protein is expressed in the germ cells of the human fetal ovary, at a later developmental stage than, and almost mutually-exclusive to, the expression of DAZL. Strikingly, BOLL is downregulated, and DAZL re-expressed, as primordial follicles form, revealing BOLL expression to be restricted to a narrow window during fetal oogenesis. By quantifying the extent of co-expression of DAZL and BOLL with markers of meiosis, we show that this window likely corresponds to the later stages of meiotic prophase I. Finally, we demonstrate that Boll is also transiently expressed during oogenesis in the fetal mouse ovary, but is simultaneously co-expressed within the same germ cells as Dazl. These data reveal significant similarities and differences between the expression of BOLL homologues during oogenesis in humans and mice, and raise questions as to the validity of the Boll(-/- mouse as a model for understanding BOLL function during human oogenesis.

  5. 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

  6. 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

  7. 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.

  8. Enamel Defects of Human Primary Dentition as Virtual Memory of Early Developmental Events

    Directory of Open Access Journals (Sweden)

    Naser Asl Aminabadi

    2009-12-01

    Full Text Available Background and aims. The objectives of the present study were to investigate the prevalence and the position of enamel defects of primary teeth and hence to estimate the approximate time of an insult. Material and methods. 121 children aged 3 to 5 years were included in the study. The Modified Developmental Defects of Enamel Index was used to diagnose and classify the defects. The defects were categorized as hypoplasia, hypocalcification or a combination of them. Each tooth was investigated for occlusal/incisal, middle, cervical, incisomiddle, cervicomiddle and complete crown defects. Results. 55.37% of the children were affected by enamel defects, 23.96% being categorized as hypocalcification and 22.31% as hypoplasia. The enamel defects were more abundant in maxillary primary incisors and mandibular primary canines. Minimum involvement was seen in maxillary primary second molars and mandibular primary lateral incisors. The prevalence of cervical defects in maxillary primary incisors was significantly more than the middle or incisal defects (P < 0.05. The prevalence of incisal defects in mandibular primary incisors was significantly more than the middle or cervical defects (P < 0.05. Conclusions. The results revealed a considerable number of enamel defects which are multiple, symmetric and chronologically accordant with the estimated neonatal line in primary teeth of healthy children.

  9. The early origins of human charity: Developmental changes in preschoolers’ sharing with poor and wealthy individuals

    Directory of Open Access Journals (Sweden)

    Markus ePaulus

    2014-06-01

    Full Text Available Recent studies have provided evidence that young children already engage in sharing behavior. The underlying social‐cognitive mechanisms, however, are still under debate. In particular, it is unclear whether or not young children’s sharing is motivated by an appreciation of others’ wealth. Manipulating the material needs of recipients in a sharing task (Experiment 1 and a resource allocation task (Experiment 2, we show that 5‐ but not 3‐year‐old children share more with poor than wealthy individuals. The 3-year-old children even showed a tendency to behave less selfishly towards the rich, yet not the poor recipient. This suggests that very early instances of sharing behavior are not motivated by a consideration of others’ material needs. Moreover, the results show that 5-year-old children were rather inclined to give more to the poor individual than distributing the resources equally, demonstrating that their wish to support the poor overruled the otherwise very prominent inclination to share resources equally. This indicates that charity has strong developmental roots in preschool children.

  10. Mouse Models for Investigating the Developmental Bases of Human Birth Defects

    OpenAIRE

    MOON, ANNE M.

    2006-01-01

    Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate ...

  11. Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

    Directory of Open Access Journals (Sweden)

    Tiziano Pramparo

    2011-03-01

    Full Text Available Heterozygous LIS1 mutations are the most common cause of human lissencephaly, a human neuronal migration defect, and DCX mutations are the most common cause of X-linked lissencephaly. LIS1 is part of a protein complex including NDEL1 and 14-3-3ε that regulates dynein motor function and microtubule dynamics, while DCX stabilizes microtubules and cooperates with LIS1 during neuronal migration and neurogenesis. Targeted gene mutations of Lis1, Dcx, Ywhae (coding for 14-3-3ε, and Ndel1 lead to neuronal migration defects in mouse and provide models of human lissencephaly, as well as aid the study of related neuro-developmental diseases. Here we investigated the developing brain of these four mutants and wild-type mice using expression microarrays, bioinformatic analyses, and in vivo/in vitro experiments to address whether mutations in different members of the LIS1 neuronal migration complex lead to similar and/or distinct global gene expression alterations. Consistent with the overall successful development of the mutant brains, unsupervised clustering and co-expression analysis suggested that cell cycle and synaptogenesis genes are similarly expressed and co-regulated in WT and mutant brains in a time-dependent fashion. By contrast, focused co-expression analysis in the Lis1 and Ndel1 mutants uncovered substantial differences in the correlation among pathways. Differential expression analysis revealed that cell cycle, cell adhesion, and cytoskeleton organization pathways are commonly altered in all mutants, while synaptogenesis, cell morphology, and inflammation/immune response are specifically altered in one or more mutants. We found several commonly dysregulated genes located within pathogenic deletion/duplication regions, which represent novel candidates of human mental retardation and neurocognitive disabilities. Our analysis suggests that gene expression and pathway analysis in mouse models of a similar disorder or within a common pathway can

  12. 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

  13. 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

  14. Gene expression analysis in human osteoblasts exposed to dexamethasone identifies altered developmental pathways as putative drivers of osteoporosis

    Directory of Open Access Journals (Sweden)

    Sadlier Denise M

    2007-02-01

    Full Text Available Abstract Background Osteoporosis, a disease of decreased bone mineral density represents a significant and growing burden in the western world. Aging population structure and therapeutic use of glucocorticoids have contributed in no small way to the increase in the incidence of this disease. Despite substantial investigative efforts over the last number of years the exact molecular mechanism underpinning the initiation and progression of osteoporosis remain to be elucidated. This has meant that no significant advances in therapeutic strategies have emerged, with joint replacement surgery being the mainstay of treatment. Methods In this study we have used an integrated genomics profiling and computational biology based strategy to identify the key osteoblast genes and gene clusters whose expression is altered in response to dexamethasone exposure. Primary human osteoblasts were exposed to dexamethasone in vitro and microarray based transcriptome profiling completed. Results These studies identified approximately 500 osteoblast genes whose expression was altered. Functional characterization of the transcriptome identified developmental networks as being reactivated with 106 development associated genes found to be differentially regulated. Pathway reconstruction revealed coordinate alteration of members of the WNT signaling pathway, including frizzled-2, frizzled-7, DKK1 and WNT5B, whose differential expression in this setting was confirmed by real time PCR. Conclusion The WNT pathway is a key regulator of skeletogenesis as well as differentiation of bone cells. Reactivation of this pathway may lead to altered osteoblast activity resulting in decreased bone mineral density, the pathological hallmark of osteoporosis. The data herein lend weight to the hypothesis that alterations in developmental pathways drive the initiation and progression of osteoporosis.

  15. The developmental relationship between the deciduous dentition and the oral vestibule in human embryos

    Czech Academy of Sciences Publication Activity Database

    Hovořáková, Mária; Lesot, H.; Peterka, Miroslav; Peterková, Renata

    2005-01-01

    Roč. 209, č. 4 (2005), s. 303-313 ISSN 0340-2061 R&D Projects: GA ČR GA304/02/0448; GA MŠk(CZ) OC B23.002 Institutional research plan: CEZ:AV0Z5039906 Keywords : human embryo * tooth development Subject RIV: EA - Cell Biology Impact factor: 1.255, year: 2005

  16. Toxcast Profiling in a Human Stem Cell Assay for Developmental Toxicity (SOT)

    Science.gov (United States)

    We correlated the ToxCast library in a metabolic biomarker-based in vitro assay (Stemina devTOXqP) utilizing human embryonic stem (hES) cells (H9 line). This assay identifies the concentration of a chemical that disrupts cellular metabolism in a manner indicative of teratogenic...

  17. Early developmental gene enhancers affect subcortical volumes in the adult human brain

    NARCIS (Netherlands)

    Becker, M.; Guadalupe, T.M.; Franke, B.; Hibar, D.P.; Renteria, M.E.; Stein, J.L.; Thompson, P.M.; Francks, C.; Vernes, S.C; Fisher, S.E.

    2016-01-01

    Genome-wide association screens aim to identify common genetic variants contributing to the phenotypic variability of complex traits, such as human height or brain morphology. The identified genetic variants are mostly within noncoding genomic regions and the biology of the genotype-phenotype

  18. Developmental Testing of Habitability and Human Factors Tools and Methods During Neemo 15

    Science.gov (United States)

    Thaxton, S. S.; Litaker, H. L., Jr.; Holden, K. L.; Adolf, J. A.; Pace, J.; Morency, R. M.

    2011-01-01

    Currently, no established methods exist to collect real-time human factors and habitability data while crewmembers are living aboard the International Space Station (ISS), traveling aboard other space vehicles, or living in remote habitats. Currently, human factors and habitability data regarding space vehicles and habitats are acquired at the end of missions during postflight crew debriefs. These debriefs occur weeks or often longer after events have occurred, which forces a significant reliance on incomplete human memory, which is imperfect. Without a means to collect real-time data, small issues may have a cumulative effect and continue to cause crew frustration and inefficiencies. Without timely and appropriate reporting methodologies, issues may be repeated or lost. TOOL DEVELOPMENT AND EVALUATION: As part of a directed research project (DRP) aiming to develop and validate tools and methods for collecting near real-time human factors and habitability data, a preliminary set of tools and methods was developed. These tools and methods were evaluated during the NASA Extreme Environments Mission Operations (NEEMO) 15 mission in October 2011. Two versions of a software tool were used to collect observational data from NEEMO crewmembers that also used targeted strategies for using video cameras to collect observations. Space habitability observation reporting tool (SHORT) was created based on a tool previously developed by NASA to capture human factors and habitability issues during spaceflight. SHORT uses a web-based interface that allows users to enter a text description of any observations they wish to report and assign a priority level if changes are needed. In addition to the web-based format, a mobile Apple (iOS) format was implemented, referred to as iSHORT. iSHORT allows users to provide text, audio, photograph, and video data to report observations. iSHORT can be deployed on an iPod Touch, iPhone, or iPad; for NEEMO 15, the app was provided on an iPad2.

  19. 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

  20. 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.)

  1. 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.

  2. 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.

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

    OpenAIRE

    Chernorizov A. M.; Zhong-qing J.; Petrakova A. V.; Zinchenko Yu. P.

    2016-01-01

    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 ...

  4. 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.

  5. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

    Science.gov (United States)

    Neuhäuser, G; Opitz, J M

    1975-11-13

    The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

  6. Developmental changes of BOLD signal correlations with global human EEG power and synchronization during working memory.

    Directory of Open Access Journals (Sweden)

    Lars Michels

    Full Text Available In humans, theta band (5-7 Hz power typically increases when performing cognitively demanding working memory (WM tasks, and simultaneous EEG-fMRI recordings have revealed an inverse relationship between theta power and the BOLD (blood oxygen level dependent signal in the default mode network during WM. However, synchronization also plays a fundamental role in cognitive processing, and the level of theta and higher frequency band synchronization is modulated during WM. Yet, little is known about the link between BOLD, EEG power, and EEG synchronization during WM, and how these measures develop with human brain maturation or relate to behavioral changes. We examined EEG-BOLD signal correlations from 18 young adults and 15 school-aged children for age-dependent effects during a load-modulated Sternberg WM task. Frontal load (in-dependent EEG theta power was significantly enhanced in children compared to adults, while adults showed stronger fMRI load effects. Children demonstrated a stronger negative correlation between global theta power and the BOLD signal in the default mode network relative to adults. Therefore, we conclude that theta power mediates the suppression of a task-irrelevant network. We further conclude that children suppress this network even more than adults, probably from an increased level of task-preparedness to compensate for not fully mature cognitive functions, reflected in lower response accuracy and increased reaction time. In contrast to power, correlations between instantaneous theta global field synchronization and the BOLD signal were exclusively positive in both age groups but only significant in adults in the frontal-parietal and posterior cingulate cortices. Furthermore, theta synchronization was weaker in children and was--in contrast to EEG power--positively correlated with response accuracy in both age groups. In summary we conclude that theta EEG-BOLD signal correlations differ between spectral power and

  7. Can stem cells really regenerate the human heart? Use your noggin, dickkopf! Lessons from developmental biology.

    Science.gov (United States)

    Sommer, Paula

    2013-06-01

    The human heart is the first organ to develop and its development is fairly well characterised. In theory, the heart has the capacity to regenerate, as its cardiomyocytes may be capable of cell division and the adult heart contains a cardiac stem cell niche, presumably capable of differentiating into cardiomyocytes and other cardiac-associated cell types. However, as with most other organs, these mechanisms are not activated upon serious injury. Several experimental options to induce regeneration of the damaged heart tissue are available: activate the endogenous cardiomyocytes to divide, coax the endogenous population of stem cells to divide and differentiate, or add exogenous cell-based therapy to replace the lost cardiac tissue. This review is a summary of the recent research into all these avenues, discussing the reasons for the limited successes of clinical trials using stem cells after cardiac injury and explaining new advances in basic science. It concludes with a reiteration that chances of successful regeneration would be improved by understanding and implementing the basics of heart development and stem cell biology.

  8. The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Danilo Cimadomo

    2016-01-01

    Full Text Available Preimplantation Genetic Diagnosis and Screening (PGD/PGS for monogenic diseases and/or numerical/structural chromosomal abnormalities is a tool for embryo testing aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. A critical aspect of this technology is the potential detrimental effect that the biopsy itself can have upon the embryo. Different embryo biopsy strategies have been proposed. Cleavage stage blastomere biopsy still represents the most commonly used method in Europe nowadays, although this approach has been shown to have a negative impact on embryo viability and implantation potential. Polar body biopsy has been proposed as an alternative to embryo biopsy especially for aneuploidy testing. However, to date no sufficiently powered study has clarified the impact of this procedure on embryo reproductive competence. Blastocyst stage biopsy represents nowadays the safest approach not to impact embryo implantation potential. For this reason, as well as for the evidences of a higher consistency of the molecular analysis when performed on trophectoderm cells, blastocyst biopsy implementation is gradually increasing worldwide. The aim of this review is to present the evidences published to date on the impact of the biopsy at different stages of preimplantation development upon human embryos reproductive potential.

  9. Early developmental gene enhancers affect subcortical volumes in the adult human brain.

    Science.gov (United States)

    Becker, Martin; Guadalupe, Tulio; Franke, Barbara; Hibar, Derrek P; Renteria, Miguel E; Stein, Jason L; Thompson, Paul M; Francks, Clyde; Vernes, Sonja C; Fisher, Simon E

    2016-05-01

    Genome-wide association screens aim to identify common genetic variants contributing to the phenotypic variability of complex traits, such as human height or brain morphology. The identified genetic variants are mostly within noncoding genomic regions and the biology of the genotype-phenotype association typically remains unclear. In this article, we propose a complementary targeted strategy to reveal the genetic underpinnings of variability in subcortical brain volumes, by specifically selecting genomic loci that are experimentally validated forebrain enhancers, active in early embryonic development. We hypothesized that genetic variation within these enhancers may affect the development and ultimately the structure of subcortical brain regions in adults. We tested whether variants in forebrain enhancer regions showed an overall enrichment of association with volumetric variation in subcortical structures of >13,000 healthy adults. We observed significant enrichment of genomic loci that affect the volume of the hippocampus within forebrain enhancers (empirical P = 0.0015), a finding which robustly passed the adjusted threshold for testing of multiple brain phenotypes (cutoff of P < 0.0083 at an alpha of 0.05). In analyses of individual single nucleotide polymorphisms (SNPs), we identified an association upstream of the ID2 gene with rs7588305 and variation in hippocampal volume. This SNP-based association survived multiple-testing correction for the number of SNPs analyzed but not for the number of subcortical structures. Targeting known regulatory regions offers a way to understand the underlying biology that connects genotypes to phenotypes, particularly in the context of neuroimaging genetics. This biology-driven approach generates testable hypotheses regarding the functional biology of identified associations. Hum Brain Mapp 37:1788-1800, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Developmental changes in electrophysiological characteristics of human induced Pluripotent Stem Cell-derived cardiomyocytes

    Science.gov (United States)

    Ben-Ari, Meital; Naor, Shulamit; Zeevi-Levin, Naama; Schick, Revital; Ben Jehuda, Ronen; Reiter, Irina; Raveh, Amit; Grijnevitch, Inna; Barak, Omri; Rosen, Michael R.; Weissman, Amir; Binah, Ofer

    2016-01-01

    Background Previous studies proposed that throughout differentiation of human induced Pluripotent Stem Cell-derived cardiomyocytes (iPSC-CMs) only 3 types of action potentials (AP) exist: nodal, atrial and ventricular-like. Objective To investigate whether there are precisely 3 phenotypes or a continuum exists among them, we tested 2 hypotheses: (1) during culture development a cardiac precursor cell is present that - depending on age - can evolve into the 3 phenotypes. (2) The predominant pattern is early prevalence of nodal phenotype, transient appearance of atrial phenotype, evolution to ventricular phenotype, and persistence of transitional phenotypes. Methods To test these hypotheses we: (1) performed FACS analysis of nodal, atrial and ventricular markers; (2) recorded AP from 280 7-to-95 day old iPSC-CMs; (3) analyzed AP characteristics. Results The major findings were: (1) FACS analysis of 30 and 60-day old cultures showed that an iPSC-CMs population shifts from nodal into atrial/ventricular phenotype, while including significant transitional populations.(2) The AP population did not consist of 3 distinct phenotypes; (3) Culture aging was associated with a shift from nodal to ventricular dominance, with a transient (57–70 days) appearance of atrial phenotype; (4) Beat Rate Variability was more prominent in nodal than ventricular cardiomyocytes while If density increased in older cultures. Conclusions From the onset of development the iPSC-CMs population includes nodal, atrial and ventricular AP and a broad spectrum of transitional phenotypes. The most readily distinguishable phenotype is atrial which appears only transiently, yet dominates at 57–70 days of evolution. PMID:27639456

  11. Developmental changes in electrophysiological characteristics of human-induced pluripotent stem cell-derived cardiomyocytes.

    Science.gov (United States)

    Ben-Ari, Meital; Naor, Shulamit; Zeevi-Levin, Naama; Schick, Revital; Ben Jehuda, Ronen; Reiter, Irina; Raveh, Amit; Grijnevitch, Inna; Barak, Omri; Rosen, Michael R; Weissman, Amir; Binah, Ofer

    2016-12-01

    Previous studies proposed that throughout differentiation of human induced Pluripotent Stem Cell-derived cardiomyocytes (iPSC-CMs), only 3 types of action potentials (APs) exist: nodal-, atrial-, and ventricular-like. To investigate whether there are precisely 3 phenotypes or a continuum exists among them, we tested 2 hypotheses: (1) During culture development a cardiac precursor cell is present that-depending on age-can evolve into the 3 phenotypes. (2) The predominant pattern is early prevalence of a nodal phenotype, transient appearance of an atrial phenotype, evolution to a ventricular phenotype, and persistence of transitional phenotypes. To test these hypotheses, we (1) performed fluorescence-activated cell sorting analysis of nodal, atrial, and ventricular markers; (2) recorded APs from 280 7- to 95-day-old iPSC-CMs; and (3) analyzed AP characteristics. The major findings were as follows: (1) fluorescence-activated cell sorting analysis of 30- and 60-day-old cultures showed that an iPSC-CMs population shifts from the nodal to the atrial/ventricular phenotype while including significant transitional populations; (2) the AP population did not consist of 3 phenotypes; (3) culture aging was associated with a shift from nodal to ventricular dominance, with a transient (57-70 days) appearance of the atrial phenotype; and (4) beat rate variability was more prominent in nodal than in ventricular cardiomyocytes, while pacemaker current density increased in older cultures. From the onset of development in culture, the iPSC-CMs population includes nodal, atrial, and ventricular APs and a broad spectrum of transitional phenotypes. The most readily distinguishable phenotype is atrial, which appears only transiently yet dominates at 57-70 days of evolution. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  12. THE PREVALENCE OF DENTAL ANOMALIES IN A TURKISH POPULATION

    Directory of Open Access Journals (Sweden)

    Gamze Aren

    2015-10-01

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

  13. 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.

  14. 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

  15. 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.

  16. ToxCast Profiling in a Human Stem Cell Assay for Developmental Toxicity (CompTox CoP)

    Science.gov (United States)

    Standard practice for assessing disruptions in embryogenesis involves testing pregnant animals of two species, typically rats and rabbits, exposed during major organogenesis and evaluated just prior to term. Under this design the major manifestations of developmental toxicity are...

  17. 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

  18. Interpreting sex differences in enamel hypoplasia in human and non-human primates: Developmental, environmental, and cultural considerations.

    Science.gov (United States)

    Guatelli-Steinberg, D; Lukacs, J R

    1999-01-01

    The purpose of this review is to provide a synoptic, critical evaluation of the evidence of, and potential etiological factors contributing to, sex differences in the expression of enamel hypoplasia (EH). Specifically, this review considers theoretical expectations and empirical evidence bearing on two central issues. The first of these is the impact of a theorized inherent male vulnerability to physiological stress on sex differences in EH. The second issue is the potential contribution to sex differences in EH of intrinsic differences in male and female enamel composition and development. To address this first issue, EH frequencies by sex are examined in samples subject to a high degree of physiological stress. Based on the concept of inherent male vulnerability (or female buffering), males in stressful environments would be expected to exhibit higher EH frequencies than females. This expectation is evaluated in light of cultural practices of sex-biased investment that mediate the relationship between environmental stress and EH expression. Defects forming prenatally afford an opportunity to study this relationship without the confounding effects of sex-biased postnatal investment. Data bearing on this issue derive from previously conducted studies of EH in permanent and deciduous teeth in both modern and archaeological samples as well as from new data on Indian schoolchildren. To address the second issue, fundamental male-female enamel differences are evaluated for their potential impact on EH expression. A large sex difference in the duration of canine crown formation in non-human primates suggests that male canines may have greater opportunity to record stress events than those of females. This expectation is examined in great apes, whose canines often record multiple episodes of stress and are sexually dimorphic in crown formation times. With respect to the first issue, in most studies, sex differences in EH prevalence are statistically nonsignificant

  19. 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

  20. Anomaly Detection in Sequences

    Data.gov (United States)

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

  1. Kohn anomaly in graphene

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  2. 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.

  3. 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

  4. 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

  5. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

  8. Human developmental neurotoxicology

    National Research Council Canada - National Science Library

    Bellinger, David

    2006-01-01

    ... (Hardcover) Library of Congress Card Number 2005046676 This book contains information obtained from authentic and highly regarded sources. Reprinted material is quoted with permission, and sourc...

  9. 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.

  10. The Relationship between Cell Number, Division Behavior and Developmental Potential of Cleavage Stage Human Embryos: A Time-Lapse Study.

    Directory of Open Access Journals (Sweden)

    Xiangyi Kong

    Full Text Available Day 3 cleavage embryo transfer is routine in many assisted reproductive technology centers today. Embryos are usually selected according to cell number, cell symmetry and fragmentation for transfer. Many studies have showed the relationship between cell number and embryo developmental potential. However, there is limited understanding of embryo division behavior and their association with embryo cell number and developmental potential. A retrospective and observational study was conducted to investigate how different division behaviors affect cell number and developmental potential of day 3 embryos by time-lapse imaging. Based on cell number at day 3, the embryos (from 104 IVF/intracytoplasmic sperm injection (ICSI treatment cycles, n = 799 were classified as follows: less than 5 cells (10C; n = 42. Division behavior, morphokinetic parameters and blastocyst formation rate were analyzed in 5 groups of day 3 embryos with different cell numbers. In 10C embryos increased compared to 7-8C embryos (45.8%, 33.3% vs. 11.1%, respectively. In ≥5C embryos, FR and DC significantly reduced developmental potential, whereas 10C. In NB embryos, the cell cycle elongation or shortening was the main cause for abnormally low or high cell number, respectively. After excluding embryos with abnormal division behaviors, the developmental potential, implantation rate and live birth rate of day 3 embryos increased with cell number.

  11. 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...

  12. 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.

  13. RARE BRANCHIAL ARCH ANOMALIES

    Directory of Open Access Journals (Sweden)

    Jayanta Kumar

    2016-03-01

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

  14. Predicting Developmental Toxicity of ToxCast Phase I Chemicals Using Human Embryonic Stem Cells and Metabolomics

    Science.gov (United States)

    EPA’s ToxRefDB contains prenatal guideline study data from rats and rabbits for over 240 chemicals that overlap with the ToxCast in vitro high throughput screening project. A subset of these compounds were tested in Stemina Biomarker Discovery's developmental toxicity platform, a...

  15. The Significance of Human-Animal Relationships as Modulators of Trauma Effects in Children: A Developmental Neurobiological Perspective

    Science.gov (United States)

    Yorke, Jan

    2010-01-01

    Emotional stress and trauma impacts the neurobiology of children. They are especially vulnerable given the developmental plasticity of the brain. The neural synaptic circular processes between the anterior cingulated cortex, prefrontal cortex, amygdala and the hypothalamus are altered. Trauma results in the release of the peptide glucocortisoid,…

  16. 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....

  17. 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

  18. 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.

  19. Developmental Immunotoxicity

    Science.gov (United States)

    Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...

  20. 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.

  1. 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.

  2. Assessing Asset Pricing Anomalies

    NARCIS (Netherlands)

    W.A. de Groot (Wilma)

    2017-01-01

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

  3. Anomaly Busters II

    International Nuclear Information System (INIS)

    Anon.

    1985-01-01

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

  4. Anomaly Busters II

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    1985-11-15

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

  5. 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.

  6. Echocardiography in Ebstein's anomaly

    NARCIS (Netherlands)

    W.J. Gussenhoven (Wilhelmina Johanna)

    1984-01-01

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

  7. Venus - Ishtar gravity anomaly

    Science.gov (United States)

    Sjogren, W. L.; Bills, B. G.; Mottinger, N. A.

    1984-01-01

    The gravity anomaly associated with Ishtar Terra on Venus is characterized, comparing line-of-sight acceleration profiles derived by differentiating Pioneer Venus Orbiter Doppler residual profiles with an Airy-compensated topographic model. The results are presented in graphs and maps, confirming the preliminary findings of Phillips et al. (1979). The isostatic compensation depth is found to be 150 + or - 30 km.

  8. Bolivian Bouguer Anomaly Grid

    Data.gov (United States)

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

  9. Generalized zero point anomaly

    International Nuclear Information System (INIS)

    Nogueira, Jose Alexandre; Maia Junior, Adolfo

    1994-01-01

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

  10. Minnesota Bouguer Anomaly Grid

    Data.gov (United States)

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

  11. 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.

  12. The Locus Preservation Hypothesis: Shared Linguistic Profiles across Developmental Disorders and the Resilient Part of the Human Language Faculty

    Directory of Open Access Journals (Sweden)

    Evelina Leivada

    2017-10-01

    Full Text Available Grammatical markers are not uniformly impaired across speakers of different languages, even when speakers share a diagnosis and the marker in question is grammaticalized in a similar way in these languages. The aim of this work is to demarcate, from a cross-linguistic perspective, the linguistic phenotype of three genetically heterogeneous developmental disorders: specific language impairment, Down syndrome, and autism spectrum disorder. After a systematic review of linguistic profiles targeting mainly English-, Greek-, Catalan-, and Spanish-speaking populations with developmental disorders (n = 880, shared loci of impairment are identified and certain domains of grammar are shown to be more vulnerable than others. The distribution of impaired loci is captured by the Locus Preservation Hypothesis which suggests that specific parts of the language faculty are immune to impairment across developmental disorders. Through the Locus Preservation Hypothesis, a classical chicken and egg question can be addressed: Do poor conceptual resources and memory limitations result in an atypical grammar or does a grammatical breakdown lead to conceptual and memory limitations? Overall, certain morphological markers reveal themselves as highly susceptible to impairment, while syntactic operations are preserved, granting support to the first scenario. The origin of resilient syntax is explained from a phylogenetic perspective in connection to the “syntax-before-phonology” hypothesis.

  13. 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.

  14. 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...

  15. 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

  16. 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.

  17. 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.

  18. 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.)

  19. Developmental Scaffolding

    DEFF Research Database (Denmark)

    Giorgi, Franco; Bruni, Luis Emilio

    2015-01-01

    . Within the developmental hierarchy, each module yields an inter-level relationship that makes it possible for the scaffolding to mediate the production of selectable variations. Awide range of genetic, cellular and morphological mechanisms allows the scaffolding to integrate these modular variations...... to the complexity of sign recognition proper of a cellular community. In this semiotic perspective, the apparent goal directness of any developmental strategy should no longer be accounted for by a predetermined genetic program, but by the gradual definition of the relationships selected amongst the ones...

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. Developmental delay

    Science.gov (United States)

    Nutrition support is essential for the care of the child with developmental delay. After a thorough evaluation, an individualized intervention plan that accounts for the child’s nutrition status, feeding ability, and medical condition may be determined. Nutrition assessments may be performed at leas...

  6. 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.

  7. Use of Both Cumulus Cells’ Transcriptomic Markers and Zona Pellucida Birefringence to Select Developmentally Competent Oocytes in Human Assisted Reproductive Technologies

    Science.gov (United States)

    2015-01-01

    Background Selection of the best oocyte for subsequent steps of fertilization and embryo transfer was shown to be the crucial step in human infertility treatment procedure. Oocyte selection using morphological criteria mainly Zona pellucida (ZP) has been the gold standard method in assisted reproductive technologies (ART) clinics, but this selection approach has limitations in terms of accuracy, objectivity and constancy. Recent studies using OMICs-based approaches have allowed the identification of key molecular markers that quantitatively and non-invasively predict the oocyte quality for higher pregnancy rates and efficient infertility treatment. These biomarkers are a valuable reinforcement of the morphological selection criteria widely used in in vitro fertilization (IVF) clinics. In this context, this study was designed to investigate the relationship between transcriptomic predictors of oocyte quality found by our group and the conventional morphological parameters of oocyte quality mainly the ZP birefringence. Results Microarray data revealed that 48 and 27 differentially expressed candidate genes in cumulus cells (CCs) were respectively overexpressed and underexpressed in the ZGP (Zona Good Pregnant) versus ZBNP (Zona Bad Non Pregnant) groups. More than 70% of previously reported transcriptomic biomarkers of oocyte developmental competence were confirmed in this study. The analysis of possible association between ZP birefringence versus molecular markers approach showed an absence of correlation between them using the current set of markers. Conclusions This study suggested a new integrative approach that matches morphological and molecular approaches used to select developmentally competent oocytes able to lead to successful pregnancy and the delivery of healthy baby. For each ZP birefringence score, oocytes displayed a particular CCs' gene expression pattern. However, no correlations were found between the 7 gene biomarkers of oocyte developmental

  8. 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.

  9. 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)

  10. Identifying and assessing human activity impacts on groundwater quality through hydrogeochemical anomalies and NO3-, NH4+, and COD contamination: a case study of the Liujiang River Basin, Hebei Province, P.R. China.

    Science.gov (United States)

    Peng, Cong; He, Jiang-Tao; Wang, Man-Li; Zhang, Zhen-Guo; Wang, Lei

    2018-02-01

    In the face of rapid economic development and increasing human activity, the deterioration of groundwater quality has seriously affected the safety of the groundwater supply in eastern China. Identifying and assessing the impact of human activities is key to finding solutions to this problem. This study is an effort to scientifically and systematically identify and assess the influence of human activities on groundwater based on irregularities in hydrochemical properties and water contamination, which are considered to directly result from anthropogenic activity. The combination of the hydrochemical anomaly identification (HAI) and the contaminant identification (CI) was proposed to identify the influence of human activities on groundwater quality. And the degree of abnormality was quantified by the background threshold value. The principal component analysis (PCA) and land use map were used to verify the reliability of the identification result. The final result show that the strong influence areas mainly distributed in the south of the basin and the affected indicators contained the major elements and NO 3 - , NH 4 + , COD. Impacts from anthropogenic activities can be divided into two types: mine drainage that disrupts natural water-rock interaction processes, agricultural cultivation, and sewage emissions that contribute to nitrate pollution.

  11. 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...

  12. 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.

  13. First branchial cleft anomaly.

    Science.gov (United States)

    Al-Fallouji, M. A.; Butler, M. F.

    1983-01-01

    A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

  14. The rise of developmental genetics - a historical account of the fusion of embryology and cell biology with human genetics and the emergence of the Stem Cell Initiative.

    Science.gov (United States)

    Kidson, S H; Ballo, R; Greenberg, L J

    2016-05-25

    Genetics and cell biology are very prominent areas of biological research with rapid advances being driven by a flood of theoretical, technological and informational knowledge. Big biology and small biology continue to feed off each other. In this paper, we provide a brief overview of the productive interactions that have taken place between human geneticists and cell biologists at UCT, and credit is given to the enabling environment created led by Prof. Peter Beighton. The growth of new disciplines and disciplinary mergers that have swept away division of the past to make new exciting syntheses are discussed. We show how our joint research has benefitted from worldwide advances in developmental genetics, cloning and stem cell technologies, genomics, bioinformatics and imaging. We conclude by describing the role of the UCT Stem Cell Initiative and show how we are using induced pluripotent cells to carry out disease-in-the- dish studies on retinal degeneration and fibrosis.

  15. Evo-Devo insights from pathological networks: exploring craniosynostosis as a developmental mechanism for modularity and complexity in the human skull.

    Science.gov (United States)

    Esteve-Altava, Borja; Rasskin-Gutman, Diego

    2015-07-20

    Bone fusion has occurred repeatedly during skull evolution in all tetrapod lineages, leading to a reduction in the number of bones and an increase in their morphological complexity. The ontogeny of the human skull includes also bone fusions as part of its normal developmental process. However, several disruptions might cause premature closure of cranial sutures (craniosynostosis), reducing the number of bones and producing new skull growth patterns that causes shape changes. Here, we compare skull network models of a normal newborn with different craniosynostosis conditions, the normal adult stage, and phylogenetically reconstructed forms of a primitive tetrapod, a synapsid, and a placental mammal. Changes in morphological complexity of newborn-to-synostosed skulls are two to three times less than in newborn-to-adult; and even smaller when we compare them to the increases among the reconstructed ancestors in the evolutionary transitions. In addition, normal, synostosed, and adult human skulls show the same connectivity modules: facial and cranial. Differences arise in the internal structure of these modules. In the adult skull the facial module has an internal hierarchical organization, whereas the cranial module has a regular network organization. However, all newborn forms, normal and synostosed, do not reach such kind of internal organization. We conclude that the subtle changes in skull complexity at the developmental scale can change the modular substructure of the newborn skull to more integrated modules in the adult skull, but is not enough to generate radical changes as it occurs at a macroevolutionary scale. The timing of closure of craniofacial sutures, together with the conserved patterns of morphological modularity, highlights a potential relation between the premature fusion of bones and the evolution of the shape of the skull in hominids.

  16. Einstein, Entropy and Anomalies

    Science.gov (United States)

    Sirtes, Daniel; Oberheim, Eric

    2006-11-01

    This paper strengthens and defends the pluralistic implications of Einstein's successful, quantitative predictions of Brownian motion for a philosophical dispute about the nature of scientific advance that began between two prominent philosophers of science in the second half of the twentieth century (Thomas Kuhn and Paul Feyerabend). Kuhn promoted a monistic phase-model of scientific advance, according to which a paradigm driven `normal science' gives rise to its own anomalies, which then lead to a crisis and eventually a scientific revolution. Feyerabend stressed the importance of pluralism for scientific progress. He rejected Kuhn's model arguing that it fails to recognize the role that alternative theories can play in identifying exactly which phenomena are anomalous in the first place. On Feyerabend's account, Einstein's predictions allow for a crucial experiment between two incommensurable theories, and are an example of an anomaly that could refute the reigning paradigm only after the development of a competitor. Using Kuhn's specification of a disciplinary matrix to illustrate the incommensurability between the two paradigms, we examine the different research strategies available in this peculiar case. On the basis of our reconstruction, we conclude by rebutting some critics of Feyerabend's argument.

  17. Pluripotent stem cells reveal the developmental biology of human megakaryocytes and provide a source of platelets for clinical application.

    Science.gov (United States)

    Takayama, Naoya; Eto, Koji

    2012-10-01

    Human pluripotent stem cells [PSCs; including human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs)] can infinitely proliferate in vitro and are easily accessible for gene manipulation. Megakaryocytes (MKs) and platelets can be created from human ESCs and iPSCs in vitro and represent a potential source of blood cells for transfusion and a promising tool for studying the human thrombopoiesis. Moreover, disease-specific iPSCs are a powerful tool for elucidating the pathogenesis of hematological diseases and for drug screening. In that context, we and other groups have developed in vitro MK and platelet differentiation systems from human pluripotent stem cells (PSCs). Combining this co-culture system with a drug-inducible gene expression system enabled us to clarify the novel role played by c-MYC during human thrombopoiesis. In the next decade, technical advances (e.g., high-throughput genomic sequencing) will likely enable the identification of numerous gene mutations associated with abnormal thrombopoiesis. Combined with such technology, an in vitro system for differentiating human PSCs into MKs and platelets could provide a novel platform for studying human gene function associated with thrombopoiesis.

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

    Directory of Open Access Journals (Sweden)

    M. Amelia Chemisquy

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

  19. The Developmental Stage of Adult Human Stem Cell-Derived Retinal Pigment Epithelium Cells Influences Transplant Efficacy for Vision Rescue

    Directory of Open Access Journals (Sweden)

    Richard J. Davis

    2017-07-01

    Full Text Available Age-related macular degeneration (AMD is a common cause of central visual loss in the elderly. Retinal pigment epithelial (RPE cell loss occurs early in the course of AMD and RPE cell transplantation holds promise to slow disease progression. We report that subretinal transplantation of RPE stem cell (RPESC-derived RPE cells (RPESC-RPE preserved vision in a rat model of RPE cell dysfunction. Importantly, the stage of differentiation that RPESC-RPE acquired prior to transplantation influenced the efficacy of vision rescue. Whereas cells at all stages of differentiation tested rescued photoreceptor layer morphology, an intermediate stage of RPESC-RPE differentiation obtained after 4 weeks of culture was more consistent at vision rescue than progeny that were differentiated for 2 weeks or 8 weeks of culture. Our results indicate that the developmental stage of RPESC-RPE significantly influences the efficacy of RPE cell replacement, which affects the therapeutic application of these cells for AMD.

  20. 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.

  1. The experience of mutation rate quantitative evaluation in connection with environmental pollution (based on studies of congenital anomalies in human populations).

    Science.gov (United States)

    Antipenko YeN; Kogut, N N

    1993-10-01

    For 3 years genetic monitoring of congenital anomalies (CA) has been carried out in three Ukrainian towns essentially different in the level of air pollution: the most polluted, Mariupol (M.); medium polluted, Zaporozhye (Z.); and relatively clean, Simpheropol (S.). In this work we present the results of this study. Eighteen CAs being used in the International Clearinghouse program were registered during the first year of life. For each case of CA an individual questionnaire was filled in. It included practically all known causes of malformations. Similar questionnaires were filled in for cases of normal birth outcome. The estimation of newborns of control groups was made according to a score of 9-10 on the Apgar scale. The questionnaires were completed by physicians in all maternity hospitals and children's clinics and based on the information obtained from mothers. Multiple malformations, dominant and X-linked CA in M. were 2.6-3.1 times more frequent than in S. The frequency of new mutations was 0.45-0.95 and 0.17-0.47 per 10(3) births respectively. No differences in multifactorial and recessive CA were noted. The mathematical method (so-called statusmetrical analysis) was used to indirectly determine the part of CAs of unknown etiology (probably of mutation origin) in the total number of CAs. Their quota in Z. and M. was 1.2-1.5 times more than in S. The advantage of statusmetrical analysis lies in the absence of any restrictions connected with a large number of parameters which describe the object's status. It makes it possible to analyze tens, even hundreds of factors (along with the increased number of parameters the reliability of the conclusions increases) and range them in accordance with their validity. Genetic consequences of chemical pollution were estimated in biological equivalents Röntgen (BER). In M. they were equal to the effect of irradiation at doses of 180-300 BER (230 BER, central estimate) over 30 years. In the polluted towns (M. and Z.) the

  2. Low Risk Anomalies?

    DEFF Research Database (Denmark)

    Schneider, Paul; Wagner, Christian; Zechner, Josef

    This paper shows theoretically and empirically that beta- and volatility-based low risk anomalies are driven by return skewness. The empirical patterns concisely match the predictions of our model that endogenizes the role of skewness for stock returns through default risk. With increasing downside...... risk, the standard capital asset pricing model (CAPM) increasingly overestimates expected equity returns relative to firms' true (skew-adjusted) market risk. Empirically, the profitability of betting against beta/volatility increases with firms' downside risk, and the risk-adjusted return differential...... of betting against beta/volatility among low skew firms compared to high skew firms is economically large. Our results suggest that the returns to betting against beta or volatility do not necessarily pose asset pricing puzzles but rather that such strategies collect premia that compensate for skew risk...

  3. Water radon anomaly fields

    Energy Technology Data Exchange (ETDEWEB)

    Yin, H.

    1980-01-01

    A striking aspect of water radon levels in relation to earthquakes is that before the Tangshan quake there was a remarkable synchronicity of behavior of many wells within 200 km of Tangshan. However, for many wells anomalous values persisted after the earthquake, particularly outside the immediate region of the quake. It is clear that radon may be produced by various processes; some candidates are pressure, shear, vibration, temperature and pressure, mixing of water-bearing strata, breakdown of mineral crystal structure, and the like, although it is not clear which of these are primary. It seems that a possible explanation of the persistence of the anomaly in the case of Tangshan may be that the earthquake released strain in the vicinity of Tangshan but increased it further along the geological structures involved, thus producing a continued radon buildup.

  4. 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.)

  5. Nogo-receptor gene activity: cellular localization and developmental regulation of mRNA in mice and humans.

    Science.gov (United States)

    Josephson, Anna; Trifunovski, Alexandra; Widmer, Hans Ruedi; Widenfalk, Johan; Olson, Lars; Spenger, Christian

    2002-11-18

    Nogo (reticulon-4) is a myelin-associated protein that is expressed in three different splice variants, Nogo-A, Nogo-B, and Nogo-C. Nogo-A inhibits neurite regeneration in the central nervous system. Messenger RNA encoding Nogo is expressed in oligodendrocytes and central and peripheral neurons, but not in astrocytes or Schwann cells. Nogo is a transmembraneous protein; the extracellular domain is termed Nogo-66, and a Nogo-66-receptor (Nogo-R) has been identified. We performed in situ hybridization in human and mouse nervous tissues to map the cellular distribution of Nogo-R gene activity patterns in fetal and adult human spinal cord and sensory ganglia, adult human brain, and the nervous systems of developing and adult mice. In the human fetus Nogo-R was transcribed in the ventral horn of the spinal cord and in dorsal root ganglia. In adult human tissues Nogo-R gene activity was found in neocortex, hippocampus, amygdala, and a subset of large and medium-sized neurons of the dorsal root ganglia. Nogo-R mRNA was not expressed in the adult human spinal cord at detectable levels. In the fetal mouse, Nogo-R was diffusely expressed in brain, brainstem, trigeminal ganglion, spinal cord, and dorsal root ganglia at all stages. In the adult mouse strong Nogo-R mRNA expression was found in neurons in neocortex, hippocampus, amygdala, habenula, thalamic nuclei, brainstem, the granular cell layer of cerebellum, and the mitral cell layer of the olfactory bulb. Neurons in the adult mouse striatum, the medial septal nucleus, and spinal cord did not express Nogo-R mRNA at detectable levels. In summary, Nogo-66-R mRNA expression in humans and mice was observed in neurons of the developing nervous system Expression was downregulated in the adult spinal cord of both species, and specific expression patterns were seen in the adult brain. Copyright 2002 Wiley-Liss, Inc.

  6. Nolen-Schiffer anomaly

    International Nuclear Information System (INIS)

    Pieper, S.C.; Wiringa, R.B.

    1995-01-01

    The Argonne v 18 potential contains a detailed treatment of the pp, pn and nn electromagnetic potential, including Coulomb, vacuum polarization, Darwin Foldy and magnetic moment terms, all with suitable form factors and was fit to pp and pn data using the appropriate nuclear masses. In addition, it contains a nuclear charge-symmetry breaking (CSB) term adjusted to reproduce the difference in the experimental pp and nn scattering lengths. We have used these potential terms to compute differences in the binding energies of mirror isospin-1/2 nuclei (Nolen-Schiffer [NS] anomaly). Variational Monte Carlo calculations for the 3 He- 3 H system and cluster variational Monte Carlo for the 15 O- 15 N and 17 F- 17 O systems were made. In the first case, the best variational wave function for the A = 3 nuclei was used. However, because our 16 O wave function does not reproduce accurately the 16 O rms radius, to which the NS anomaly is very sensitive, we adjusted the A = 15 and A = 17 wave functions to reproduce the experimental density profiles. Our computed energy differences for these three systems are 0.757 ± .001, 3.544 ± .018 and 3.458 ± .040 MeV respectively, which are to be compared with the experimental differences of 0.764, 3.537, and 3.544 MeV. Most of the theoretical uncertainties are due to uncertainties in the experimental rms radii. The nuclear CSB potential contributes 0.066, 0.188, and 0.090 MeV to these totals. We also attempted calculations for A = 39 and A = 41. However, in these cases, the experimental uncertainties in the rms radius make it impossible to extract useful information about the contribution of the nuclear CSB potential

  7. Quantitative complete tooth variation among east Asians and Native Americans: developmental biology as a tool for the assessment of human divergence.

    Science.gov (United States)

    Shields, E D

    1996-01-01

    The quantification of total tooth structure derived from X-rays of Vietnamese, Southern Chinese, Mongolians, Western Eskimos, and Peruvian pre-Inca (Huari Empire) populations was used to examine dental divergence and the morphogenetics of change. Multivariate derived distances between the samples helped identify a quasicontinuous web of ethnic groups with two binary clusters ensconced within the web. One cluster was composed of Mongolians, Western Eskimos, and pre-Inca, and the other group consisted of the Southern Chinese and Vietnamese. Mongolians entered the quasicontinuum from a divergent angle (externally influenced) from that of the Southeast Asians. The Chinese and pre-Inca formed the polar samples of the distance superstructure. The pre-Inca sample was the most isolated, its closest neighbor being the Western Eskimos. Univariate and multivariate analyses suggested that the pre-Inca, whose ancestors arrived in America perhaps approximately 30,000 years ago, was the least derived sample. Clearly, microevolutionary change occurred among the samples, but the dental phenotype was resistant to environmental developmental perturbations. An assessment of dental divergence and developmental biology suggested that the overall dental phenotype is a complex multigenic morphological character, and that the observed variation evolved through total genomic drift. The quantified dental phenotype is greater than its highly multigenic algorithm and its development homeostasis is tightly controlled, or canalized, by the deterministic organization of a complex nonlinear epigenetic milieu. The overall dental phenotype quantified here was selectively neutral and a good character to help reconstruct the sequence of human evolution, but if the outlying homeostatic threshold was or will be exceeded in antecedents and descendants, respectively, evolutionary saltation occurs.

  8. 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....

  9. 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)

  10. 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.

  11. 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

  12. Human Pluripotent Stem Cell-Based Assay Predicts Developmental Toxicity Potential of ToxCast Chemicals (ACT meeting)

    Science.gov (United States)

    Worldwide initiatives to screen for toxicity potential among the thousands of chemicals currently in use require inexpensive and high-throughput in vitro models to meet their goals. The devTOX quickPredict platform is an in vitro human pluripotent stem cell-based assay used to as...

  13. The Perception of Four Basic Emotions in Human and Nonhuman Faces by Children with Autism and Other Developmental Disabilities

    Science.gov (United States)

    Gross, Thomas F.

    2004-01-01

    Children who experienced autism, mental retardation, and language disorders; and, children in a clinical control group were shown photographs of human female, orangutan, and canine (boxer) faces expressing happiness, sadness, anger, surprise and a neutral expression. For each species of faces, children were asked to identify the happy, sad, angry,…

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

    Science.gov (United States)

    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 cultur...

  15. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

    Directory of Open Access Journals (Sweden)

    Fernando Cristo

    2017-12-01

    Full Text Available A human iPSC line was generated from exfoliated renal epithelial (ERE cells of a patient affected with Congenital Heart Disease (CHD and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

  16. Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.

    Directory of Open Access Journals (Sweden)

    Juan A Navarro

    Full Text Available BACKGROUND: Friedreich's ataxia (FA, the most frequent form of inherited ataxias in the Caucasian population, is caused by a reduced expression of frataxin, a highly conserved protein. Model organisms have contributed greatly in the efforts to decipher the function of frataxin; however, the precise function of this protein remains elusive. Overexpression studies are a useful approach to investigate the mechanistic actions of frataxin; however, the existing literature reports contradictory results. To further investigate the effect of frataxin overexpression, we analyzed the consequences of overexpressing human (FXN and fly (FH frataxins in Drosophila. METHODOLOGY/PRINCIPAL FINDINGS: We obtained transgenic flies that overexpressed human or fly frataxins in a general pattern and in different tissues using the UAS-GAL4 system. For both frataxins, we observed deleterious effects at the biochemical, histological and behavioral levels. Oxidative stress is a relevant factor in the frataxin overexpression phenotypes. Systemic frataxin overexpression reduces Drosophila viability and impairs the normal embryonic development of muscle and the peripheral nervous system. A reduction in the level of aconitase activity and a decrease in the level of NDUF3 were also observed in the transgenic flies that overexpressed frataxin. Frataxin overexpression in the nervous system reduces life span, impairs locomotor ability and causes brain degeneration. Frataxin aggregation and a misfolding of this protein have been shown not to be the mechanism that is responsible for the phenotypes that have been observed. Nevertheless, the expression of human frataxin rescues the aconitase activity in the fh knockdown mutant. CONCLUSION/SIGNIFICANCE: Our results provide in vivo evidence of a functional equivalence for human and fly frataxins and indicate that the control of frataxin expression is important for treatments that aim to increase frataxin levels.

  17. Developmental validation of the Quantifiler(®) HP and Trio Kits for human DNA quantification in forensic samples.

    Science.gov (United States)

    Holt, Allison; Wootton, Sharon Chao; Mulero, Julio J; Brzoska, Pius M; Langit, Emanuel; Green, Robert L

    2016-03-01

    The quantification of human genomic DNA is a necessary first step in the DNA casework sample analysis workflow. DNA quantification determines optimal sample input amounts for subsequent STR (short tandem repeat) genotyping procedures, as well as being a useful screening tool to identify samples most likely to provide probative genotypic evidence. To better mesh with the capabilities of newest-generation STR analysis assays, the Quantifiler(®) HP and Quantifiler(®) Trio DNA Quantification Kits were designed for greater detection sensitivity and more robust performance with samples that contain PCR inhibitors or degraded DNA. The new DNA quantification kits use multiplex TaqMan(®) assay-based fluorescent probe technology to simultaneously quantify up to three human genomic targets, allowing samples to be assessed for total human DNA, male contributor (i.e., Y-chromosome) DNA, as well as a determination of DNA degradation state. The Quantifiler HP and Trio Kits use multiple-copy loci to allow for significantly improved sensitivity compared to earlier-generation kits that employ single-copy target loci. The kits' improved performance provides better predictive ability for results with downstream, newest-generation STR assays, and their shortened time-to-result allows more efficient integration into the forensic casework analysis workflow. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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

  1. Anomalies in instanton calculus

    International Nuclear Information System (INIS)

    Anselmi, D.

    1995-01-01

    I develop a formalism for solving topological field theories explicitly, in the case when the explicit expression of the instantons is known. I solve topological Yang-Mills theory with the k=1 instanton of Belavin et al. and topological gravity with the Eguchi-Hanson instanton. It turns out that naively empty theories are indeed nontrivial. Many unexpected interesting hidden quantities (punctures, contact terms, nonperturbative anomalies with or without gravity) are revealed. Topological Yang-Mills theory with G=SU(2) is not just Donaldson theory, but contains a certain link theory. Indeed, local and non-local observables have the property of marking cycles. Moreover, from topological gravity one learns that an object can be considered BRST exact only if it is so all over the moduli space M , boundary included. Being BRST exact in any interior point of M is not sufficient to make an amplitude vanish. Presumably, recursion relations and hierarchies can be found to solve topological field theories in four dimensions, in particular topological Yang-Mills theory with G=SU(2) on R 4 and topological gravity with the full set of asymptotically locally Euclidean manifolds. ((orig.))

  2. Neurite outgrowth in human induced pluripotent stem cell-derived neurons as a high-throughput screen for developmental neurotoxicity or neurotoxicity.

    Science.gov (United States)

    Ryan, Kristen R; Sirenko, Oksana; Parham, Fred; Hsieh, Jui-Hua; Cromwell, Evan F; Tice, Raymond R; Behl, Mamta

    2016-03-01

    Due to the increasing prevalence of neurological disorders and the large number of untested compounds in the environment, there is a need to develop reliable and efficient screening tools to identify environmental chemicals that could potentially affect neurological development. Herein, we report on a library of 80 compounds screened for their ability to inhibit neurite outgrowth, a process by which compounds may elicit developmental neurotoxicity, in a high-throughput, high-content assay using human neurons derived from induced pluripotent stem cells (iPSC). The library contains a diverse set of compounds including those that have been known to be associated with developmental neurotoxicity (DNT) and/or neurotoxicity (NT), environmental compounds with unknown neurotoxic potential (e.g., polycyclic aromatic hydrocarbons (PAHs) and flame retardants (FRs)), as well as compounds with no documented neurotoxic potential. Neurons were treated for 72h across a 6-point concentration range (∼0.3-100μM) in 384-well plates. Effects on neurite outgrowth were assessed by quantifying total outgrowth, branches, and processes. We also assessed the number ofviable cells per well. Concentration-response profiles were evaluated using a Hill model to derive benchmark concentration (BMC) values. Assay performance was evaluated using positive and negative controls and test replicates. Compounds were ranked by activity and selectivity (i.e., specific effects on neurite outgrowth in the absence of concomitant cytotoxicity) and repeat studies were conducted to confirm selectivity. Among the 80 compounds tested, 38 compounds were active, of which 16 selectively inhibited neurite outgrowth. Of these 16 compounds, 12 were known to cause DNT/NT and the remaining 4 compounds included 3 PAHs and 1 FR. In independent repeat studies, 14/16 selective compounds were reproducibly active in the assay, of which only 6 were selective for inhibition of neurite outgrowth. These 6 compounds were

  3. From the Cover: AstrocytesAre Protective Against Chlorpyrifos Developmental Neurotoxicity in Human Pluripotent Stem Cell-Derived Astrocyte-Neuron Cocultures.

    Science.gov (United States)

    Wu, Xian; Yang, Xiangkun; Majumder, Anirban; Swetenburg, Raymond; Goodfellow, Forrest T; Bartlett, Michael G; Stice, Steven L

    2017-06-01

    Human neural progenitor cells are capable of independent, directed differentiation into astrocytes, oligodendrocytes and neurons and thus offer a potential cell source for developmental neurotoxicity (DNT) systems. Human neural progenitor-derived astrocyte-neuron cocultured at defined ratios mimic cellular heterogeneity and interaction in the central nervous system. Cytochrome P450 enzymes are expressed at a relatively high level in astrocytes and may play a critical role in the biotransformation of endogenous or exogenous compounds, including chlorpyrifos, an organophosphate insecticide that affects the central nervous system. P450 enzymes metabolize chlorpyrifos to chlorpyrifos-oxon, which is then metabolized primarily to 3, 5, 6-trichloropyridinol in addition to diethylphosphate and diethylthiophosphate. These end metabolites are less neurotoxic than chlorpyrifos and chlorpyrifos-oxon. Our objective was to identify the interactive role of astrocytes and neurons in chlorpyrifos-induced human DNT. In neuron-only cultures, chlorpyrifos inhibited neurite length, neurite number and branch points per neuron in a dose-dependent manner during a 48 h exposure, starting at 10 μM. However, in astrocyte-neuron cocultures, astrocytes protected neurons from the effects of chlorpyrifos at higher concentrations, up to and including 30 μM chlorpyrifos and endogenous astrocyte P450 enzymes effectively metabolized chlorpyrifos. The P450 inhibitor SKF525A partly negated the protective effect of astrocytes, allowing reduction in branch points with chlorpyrifos (10 μM). Thus, the scalable and defined astrocyte-neuron cocultures model that we established here has potentially identified a role for P450 enzymes in astrocytic neuroprotection against chlorpyrifos and provides a novel model for addressing DNT in a more accurate multicellular environment. © The Author 2017. Published by Oxford University Press on behalf of the Society of Toxicology. All rights reserved. For

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

    Science.gov (United States)

    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.

  9. In-vitro developmental potential of individual mouse blastomeres cultured with and without zona pellucida: future implications for human assisted reproduction.

    Science.gov (United States)

    Illmensee, K; Kaskar, K; Zavos, P M

    2006-08-01

    This study was designed to compare the developmental potential of individual blastomeres derived from 2-, 4-, 6- and 8-cell mouse embryos cultured with and without zona pellucida (ZP). In the first series, one, three, five and seven blastomeres were biopsied from 2-, 4-, 6- and 8-cell embryos respectively, and inserted individually into empty ZP recipients, leaving the remaining blastomere within its original ZP. In the second series, the same protocol was used except that the biopsied blastomeres were cultured without ZP and compared with the remaining blastomere within its original ZP. For the first series, individual blastomeres derived from 2-, 4-, 6- and 8-cell embryos cultured with ZP showed blastocyst development of 82.4, 68.6, 44.4 and 23.1% respectively, with corresponding hatching rates of 70.6, 60.0, 25.9 and 7.7%. For the second series, individual blastomeres cultured without ZP progressed with blastocyst development of 73.3, 64.5, 35.7 and 22.7% respectively. Blastocyst multiplication was achieved most efficiently when using individual blastomeres from 4- and 6-cell embryos. This is the first report on comparative in-vitro propagation of single blastomeres derived from various cleavage stages in a mammalian species. Blastomere cloning with its multiple applications may be envisaged for human assisted reproductive technologies.

  10. Interior Alaska Bouguer Gravity Anomaly

    Data.gov (United States)

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

  11. Interior Alaska Bouguer Gravity Anomaly

    Data.gov (United States)

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

  12. On renormalization of axial anomaly

    International Nuclear Information System (INIS)

    Efremov, A.V.; Teryaev, O.V.

    1989-01-01

    It is shown that multiplicative renormalization of the axial singlet current results in renormalization of the axial anomaly in all orders of perturbation theory. It is a necessary condition for the Adler - Bardeen theorem being valid. 10 refs.; 2 figs

  13. Developmental dyscalculia.

    Science.gov (United States)

    Kucian, Karin; von Aster, Michael

    2015-01-01

    Numerical skills are essential in our everyday life, and impairments in the development of number processing and calculation have a negative impact on schooling and professional careers. Approximately 3 to 6 % of children are affected from specific disorders of numerical understanding (developmental dyscalculia (DD)). Impaired development of number processing skills in these children is characterized by problems in various aspects of numeracy as well as alterations of brain activation and brain structure. Moreover, DD is assumed to be a very heterogeneous disorder putting special challenges to define homogeneous diagnostic criteria. Finally, interdisciplinary perspectives from psychology, neuroscience and education can contribute to the design for interventions, and although results are still sparse, they are promising and have shown positive effects on behaviour as well as brain function. In the current review, we are going to give an overview about typical and atypical development of numerical abilities at the behavioural and neuronal level. Furthermore, current status and obstacles in the definition and diagnostics of DD are discussed, and finally, relevant points that should be considered to make an intervention as successful as possible are summarized.

  14. Learning about Poland Anomaly

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  15. 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.

  16. 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

  17. Developmental changes in thyrotropin-releasing hormone (pGlu-His-ProNH2, TRH) metabolism in human cerebrospinal fluid

    International Nuclear Information System (INIS)

    Prasad, C.; Rao, J.K.; Ponte, E.; Jayaraman, A.

    1986-01-01

    Since CSF is in constant exchange with the brain extracellular fluids, studies on the development of TRH metabolism in CSF might give insight into the functions of TRH in the brain. In human CSF, TRH metabolism is exclusively catalyzed by enzyme Pyroglutamate animopeptidase (pGlu-peptidase) yielding cyclo(His-Pro) as product. [ 3 H-Pro]-TRH (20 μM, 0.1 μCi) was incubated with CSF at 37C for 15, 30, 45 and 60 minutes and the rates of cyclo(His-Pro) formation was calculated. pGlu-peptidase activities [pmol cyclo(His-Pro) formed from TRH/min/ml CSF] in CSF from pre-term (gestational age: 29-36 weeks) and newborn (0-8 days) babies were significantly (p 0.2] or the mixing of pediatric and adult CSF did not decrease the enzyme activity of adult CSF. In conclusion, TRH metabolism in CSF increases with age and low pGlu-peptidase activity in pediatric CSF may suggest some unique development role for this enzyme in brain TRH function(s)

  18. Chromosome-Centric Human Proteome Project Allies with Developmental Biology: A Case Study of the Role of Y Chromosome Genes in Organ Development.

    Science.gov (United States)

    Meyfour, Anna; Pooyan, Paria; Pahlavan, Sara; Rezaei-Tavirani, Mostafa; Gourabi, Hamid; Baharvand, Hossein; Salekdeh, Ghasem Hosseini

    2017-12-01

    One of the main goals of Chromosome-Centric Human Proteome Project is to identify protein evidence for missing proteins (MPs). Here, we present a case study of the role of Y chromosome genes in organ development and how to overcome the challenges facing MPs identification by employing human pluripotent stem cell differentiation into cells of different organs yielding unprecedented biological insight into adult silenced proteins. Y chromosome is a male-specific sex chromosome which escapes meiotic recombination. From an evolutionary perspective, Y chromosome has preserved 3% of ancestral genes compared to 98% preservation of the X chromosome based on Ohno's law. Male specific region of Y chromosome (MSY) contains genes that contribute to central dogma and govern the expression of various targets throughout the genome. One of the most well-known functions of MSY genes is to decide the male-specific characteristics including sex, testis formation, and spermatogenesis, which are majorly formed by ampliconic gene families. Beyond its role in sex-specific gonad development, MSY genes in coexpression with their X counterparts, as single copy and broadly expressed genes, inhibit haplolethality and play a key role in embryogenesis. The role of X-Y related gene mutations in the development of hereditary syndromes suggests an essential contribution of sex chromosome genes to development. MSY genes, solely and independent of their X counterparts and/or in association with sex hormones, have a considerable impact on organ development. In this Review, we present major recent findings on the contribution of MSY genes to gonad formation, spermatogenesis, and the brain, heart, and kidney development and discuss how Y chromosome proteome project may exploit developmental biology to find missing proteins.

  19. 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.).

  20. 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.

  1. 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.

  2. 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

  3. 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.

  4. 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: ...

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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...

  11. 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

  12. How does the brain deal with cumulative stress? A review with focus on developmental stress, HPA axis function and hippocampal structure in humans.

    Science.gov (United States)

    Frodl, Thomas; O'Keane, Veronica

    2013-04-01

    There is evidence that excessive stress exposure of the brain, mediated through the neurotoxic effects of cortisol and possibly neuroinflammation, causes damage to brain structure and function: the glucocorticoid cascade hypothesis. Functional changes of hypothalamic-pituitary-adrenal (HPA) axis as well as alterations in brain structures like the hippocampus have been consistently reported in major depression. However, there has not been a lot of emphasis on bringing findings from studies on early childhood stress, HPA axis functioning and hippocampal imaging together. This is the subject for this systematic review of the literature on how developmental stress, specifically childhood maltreatment, may impact on HPA axis function and hippocampal structure. We will also review the literature on the relationship between HPA axis function and hippocampal volume in healthy, depressed and other disease states. There is evidence that prenatal stress and childhood maltreatment is associated with an abnormally developing HPA system, as well as hippocampal volume reduction. Smaller hippocampal volumes are associated with increased cortisol secretion during the day. We conclude that a model integrating childhood maltreatment, cortisol abnormalities and hippocampal volume may need to take other factors into account, such as temperament, genetics or the presence of depression; to provide a cohesive explanation of all the findings. Finally, we have to conclude that the cascade hypothesis, mainly based on preclinical studies, has not been translated enough into humans. While there is evidence that early life maltreatment results in structural hippocampal changes and these are in turn more prominent in subjects with higher continuous cortisol secretion it is less clear which role early life maltreatment plays in HPA axis alteration. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. A unique, highly conserved secretory invertase is differentially expressed by promastigote developmental forms of all species of the human pathogen, Leishmania

    Science.gov (United States)

    Lyda, Todd A.; Joshi, Manju B.; Andersen, John F.; Kelada, Andrew Y.; Owings, Joshua P.; Bates, Paul A.; Dwyer, Dennis M.

    2015-01-01

    Leishmania are protozoan pathogens of humans that exist as extracellular promastigotes in the gut of their sand fly vectors and as obligate intracellular amastigotes within phagolysosomes of infected macrophages. Between infectious blood meal feeds, sand flies take plant juice meals that contain sucrose and store these sugars in their crop. Such sugars are regurgitated into the sand fly anterior midgut where they impact the developing promastigote parasite population. In this report we showed that promastigotes of all Leishmania species secreted an invertase/sucrase enzyme during their growth in vitro. In contrast, neither L. donovani nor L. mexicana amastigotes possessed any detectable invertase activity. Importantly, no released/secreted invertase activity was detected in culture supernatants from either Trypanosoma brucei or Trypanosoma cruzi. Using HPLC, the L. donovani secretory invertase was isolated and subjected to amino acid sequencing. Subsequently, we used a molecular approach to identify the LdINV and LmexINV genes encoding the ~72 kDa invertases produced by these organisms. Interestingly, we identified high fidelity LdINV-like homologs in the genomes of all Leishmania sp. but none were present in either T. brucei or T. cruzi. Northern blot and RT-PCR analyses showed that these genes were developmentally/differentially expressed in promastigotes but not amastigotes of these parasites. Homologous transfection studies demonstrated that these genes in fact encoded the functional secretory invertases produced by these parasites. Cumulatively, our results suggest that these secretory enzymes play critical roles in the survival/growth/development and transmission of all Leishmania parasites within their sand fly vector hosts. PMID:25763714

  14. 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

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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.)

  4. Anomalies, Beta Functions, and GUT's

    International Nuclear Information System (INIS)

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

    2009-01-01

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

  5. Review on possible gravitational anomalies

    International Nuclear Information System (INIS)

    Amador, Xavier E

    2005-01-01

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

  6. 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...

  7. Developmental immunotoxicology of lead

    International Nuclear Information System (INIS)

    Dietert, Rodney R.; Lee, Ji-Eun; Hussain, Irshad; Piepenbrink, Michael

    2004-01-01

    The heavy metal, lead, is a known developmental immunotoxicant that has been shown to produce immune alterations in humans as well as other species. Unlike many compounds that exert adverse immune effects, lead exposure at low to moderate levels does not produce widespread loss of immune cells. In contrast, changes resulting from lead exposure are subtle at the immune cell population level but, nevertheless, can be functionally dramatic. A hallmark of lead-induced immunotoxicity is a pronounced shift in the balance in T helper cell function toward T helper 2 responses at the expense of T helper 1 functions. This bias alters the nature and range of immune responses that can be produced thereby influencing host susceptibility to various diseases. Immunotoxic responses to lead appear to differ across life stages not only quantitatively with regard to dose response, but also qualitatively in terms of the spectrum of immune alterations. Experimental studies in several lab animal species suggest the latter stages of gestation are a period of considerable sensitivity for lead-induced immunotoxicity. This review describes the basic characteristics of lead-induced immunotoxicity emphasizing experimental animal results. It also provides a framework for the consideration of toxicant exposure effects across life stages. The existence of and probable basis for developmental windows of immune hyper-susceptibility are presented. Finally, the potential for lead to serve as a perinatal risk factor for childhood asthma as well as other diseases is considered

  8. 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.

  9. Developmental neuroimaging

    Energy Technology Data Exchange (ETDEWEB)

    Dehaene-Lambertz, G. [Service Hospitalier Frederic Joliot (CEA/DSV/DRM), INSERM U562, 91 - Orsay (France)

    2006-07-01

    Cognitive capacities, such as language, mathematics, music, etc... are highly developed in humans as compared to animals. Numerous studies have found precursors of these capacities in infants: For example, infants are able to discriminate sentences in different languages (Mehler et al., 1988), distinguish sets of objects based on their numerosity (Feigenson et al., 2002) or recognize known faces (Bushnell, 1982). These abilities are not very different from those of other animals. Monkeys are also able to discriminate two human languages (Ramus et al., 2000), two quantities of items (Hauser et al., 2002), or respond to particular faces (Parr et al., 2000). In a few years, however, children surpass these animals. To explain the development of the cognitive capacities of our species, our approach consists in studying the initial stages of cerebral organization during the first months of life in order to characterize the critical parameters that allow infants to take advantage of their environment to achieve the adults' cognitive sophistication. Thanks to the recent progress of brain imaging, it is now possible to examine cerebral functioning of the very young child in entire security. In our team, we used two complementary methods: event-related potentials (ERPs) and functional magnetic resonance imaging (f MRI). ERPs, used since numerous years in infants, consist of the recording of the brain electrical activity consecutive to the presentation of a stimulus. By using a careful experimental design, it is possible to infer the succession of processing stages that the stimulus follows and to measure their latency (Dehaene-Lambertz and Dehaene, 1994; Gliga and Dehaene-Lambertz, 2006). High-density ERPs system allows also to record even small topographical differences between conditions and thus to infer that the underlying network s involved in the tested conditions are different. With this method, we have decomposed syllable perception in infants and underscore a

  10. Developmental neuroimaging

    International Nuclear Information System (INIS)

    Dehaene-Lambertz, G.

    2006-01-01

    Cognitive capacities, such as language, mathematics, music, etc... are highly developed in humans as compared to animals. Numerous studies have found precursors of these capacities in infants: For example, infants are able to discriminate sentences in different languages (Mehler et al., 1988), distinguish sets of objects based on their numerosity (Feigenson et al., 2002) or recognize known faces (Bushnell, 1982). These abilities are not very different from those of other animals. Monkeys are also able to discriminate two human languages (Ramus et al., 2000), two quantities of items (Hauser et al., 2002), or respond to particular faces (Parr et al., 2000). In a few years, however, children surpass these animals. To explain the development of the cognitive capacities of our species, our approach consists in studying the initial stages of cerebral organization during the first months of life in order to characterize the critical parameters that allow infants to take advantage of their environment to achieve the adults' cognitive sophistication. Thanks to the recent progress of brain imaging, it is now possible to examine cerebral functioning of the very young child in entire security. In our team, we used two complementary methods: event-related potentials (ERPs) and functional magnetic resonance imaging (f MRI). ERPs, used since numerous years in infants, consist of the recording of the brain electrical activity consecutive to the presentation of a stimulus. By using a careful experimental design, it is possible to infer the succession of processing stages that the stimulus follows and to measure their latency (Dehaene-Lambertz and Dehaene, 1994; Gliga and Dehaene-Lambertz, 2006). High-density ERPs system allows also to record even small topographical differences between conditions and thus to infer that the underlying network s involved in the tested conditions are different. With this method, we have decomposed syllable perception in infants and underscore a

  11. 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.

  12. Sharing AIS Related Anomalies (SARA)

    Science.gov (United States)

    2016-03-01

    78 6.3.7 SQL Versus NoSQL . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81 6.4 Data Processing...43 6.1 Overview of SQL and NoSQL differences, from [56]. . . . . . . . . . . . . . . . . . 82 A.1 Description of the ship anomaly upload use...constraints must be considered. These requirements, however, can only be defined when lower level implementation decisions, such as SQL versus NoSQL

  13. Covariant Gauss law commutator anomaly

    International Nuclear Information System (INIS)

    Dunne, G.V.; Trugenberger, C.A.; Massachusetts Inst. of Tech., Cambridge

    1990-01-01

    Using a (fixed-time) hamiltonian formalism we derive a covariant form for the anomaly in the commutator algebra of Gauss law generators for chiral fermions interacting with a dynamical non-abelian gauge field in 3+1 dimensions. (orig.)

  14. 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.

  15. Branchial cleft anomalies: CT evaluation

    International Nuclear Information System (INIS)

    Seok, Eul Hye; Park, Chan Sup

    1994-01-01

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

  16. 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

  17. Who is afraid of anomalies?

    International Nuclear Information System (INIS)

    Rajaraman, R.

    1990-01-01

    There are situations where gauge symmetry comes into unavoidable conflict with quantum theory. Such situations are examples of what are called 'Anomalies' in quantum field theory. In these cases, although some form of gauge symmetry is present at the classical level, the process of quantisation necessarily destroys that symmetry. How to consistently treat such cases and obtain their novel features is discussed. (author)

  18. 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)

  19. 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.

  20. Descendants of the Chiral Anomaly

    OpenAIRE

    Jackiw, R.

    2000-01-01

    Chern-Simons terms are well-known descendants of chiral anomalies, when the latter are presented as total derivatives. Here I explain that also Chern-Simons terms, when defined on a 3-manifold, may be expressed as total derivatives.

  1. Anomaly detection in diurnal data

    NARCIS (Netherlands)

    Mata, F.; Zuraniewski, P.W.; Mandjes, M.; Mellia, M.

    2014-01-01

    In this paper we present methodological advances in anomaly detection tailored to discover abnormal traffic patterns under the presence of seasonal trends in data. In our setup we impose specific assumptions on the traffic type and nature; our study features VoIP call counts, for which several

  2. 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

  3. 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....

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

    Directory of Open Access Journals (Sweden)

    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.

  5. 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

  6. The Domain of Developmental Psychopathology.

    Science.gov (United States)

    Sroufe, L. Alan; Rutter, Michael

    1984-01-01

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

  7. 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

  8. 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.

  9. 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)

  10. 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.)

  11. Geophysical Anomalies and Earthquake Prediction

    Science.gov (United States)

    Jackson, D. D.

    2008-12-01

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

  12. 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....

  13. 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

  14. 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.

  15. 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

  16. 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

  17. 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...

  18. Holomorphic anomaly and quantum mechanics

    Science.gov (United States)

    Codesido, Santiago; Mariño, Marcos

    2018-02-01

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

  19. Vitellointestinal Duct Anomalies in Infancy

    OpenAIRE

    Kadian, Yogender Singh; Verma, Anjali; Rattan, Kamal Nain; Kajal, Pardeep

    2016-01-01

    Background: Vitellointestinal duct (VID) or omphalomesenteric duct anomalies are secondary to the persistence of the embryonic vitelline duct, which normally obliterates by weeks 5–9 of intrauterine life. Methods: This is a retrospective analysis of a total of 16 patients of symptomatic remnants of vitellointestinal duct from period of Jan 2009 to May 2013. Results: Male to female ratio (M:F) was 4.3:1 and mean age of presentation was 2 months and their mode of presentation was: paten...

  20. Bifid rib: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Mythili Krishnan Rathinasabapathi

    2015-01-01

    Full Text Available A case of the bifid rib was found during routine bone study. The distal part of the osseous rib bifurcated into two divisions with an angle of 60°. Both divisions had their own costal cartilage. Bifid rib is a congenital abnormality of the rib cage and usually asymptomatic, often discovered incidentally on chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties and neurological limitations.

  1. Anomaly mediation in superstring theory

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-08-15

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

  2. Anomalies, conformal manifolds, and spheres

    Energy Technology Data Exchange (ETDEWEB)

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

    2016-03-04

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

  3. 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.

  4. 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.

  5. 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

  6. 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

  7. Human dental age estimation using third molar developmental stages: does a Bayesian approach outperform regression models to discriminate between juveniles and adults?

    OpenAIRE

    Thevissen, P. W.; FIEUWS, Steffen; Willems, G.

    2010-01-01

    Dental age estimation methods based on the radiologically detected third molar developmental stages are implemented in forensic age assessments to discriminate between juveniles and adults considering the judgment of young unaccompanied asylum seekers. Accurate and unbiased age estimates combined with appropriate quantified uncertainties are the required properties for accurate forensic reporting. In this study, a subset of 910 individuals uniformly distributed in age between 16 and 22 years ...

  8. 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

  9. 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...

  10. 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...

  11. 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.

  12. 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

  13. Human dental age estimation using third molar developmental stages: does a Bayesian approach outperform regression models to discriminate between juveniles and adults?

    Science.gov (United States)

    Thevissen, P W; Fieuws, S; Willems, G

    2010-01-01

    Dental age estimation methods based on the radiologically detected third molar developmental stages are implemented in forensic age assessments to discriminate between juveniles and adults considering the judgment of young unaccompanied asylum seekers. Accurate and unbiased age estimates combined with appropriate quantified uncertainties are the required properties for accurate forensic reporting. In this study, a subset of 910 individuals uniformly distributed in age between 16 and 22 years was selected from an existing dataset collected by Gunst et al. containing 2,513 panoramic radiographs with known third molar developmental stages of Belgian Caucasian men and women. This subset was randomly split in a training set to develop a classical regression analysis and a Bayesian model for the multivariate distribution of the third molar developmental stages conditional on age and in a test set to assess the performance of both models. The aim of this study was to verify if the Bayesian approach differentiates the age of maturity more precisely and removes the bias, which disadvantages the systematically overestimated young individuals. The Bayesian model offers the discrimination of subjects being older than 18 years more appropriate and produces more meaningful prediction intervals but does not strongly outperform the classical approaches.

  14. 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...

  15. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... Reproductive and Developmental Toxicology is a comprehensive and authoritative resource providing the latest literature enriched with relevant references describing every aspect of this area of science...

  16. 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.)

  17. 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.

  18. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  19. 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

  20. 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.

  1. 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...

  2. Work Hours as a Moderator of the Relationship between Developmental Human Resource Management Practices and the Psychological Contract: A Multilevel Investigation

    OpenAIRE

    Håkensen, Katrine

    2014-01-01

    Purpose & background – The purpose of this study was to examine if part-time and full-time employees differ in terms of psychological contract content according to level of developmental HRM practices. The study adds to an ongoing research project Organizational antecedents of psychological contracts and work-related outcomes , run by Sabine Raeder, University of Oslo in cooperation with José María Peiró, University of Valencia, Spain. Design & methodology – A survey of 463 employees from 35...

  3. 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.

  4. Power coefficient anomaly in JOYO

    Energy Technology Data Exchange (ETDEWEB)

    Yamamoto, H

    1980-12-15

    Operation of the JOYO experimental fast reactor with the MK-I core has been divided into two phases: (1) 50 MWt power ascension and operation; and (2) 75 MWt power ascension and operation. The 50 MWt power-up tests were conducted in August 1978. In these tests, the measured reactivity loss due to power increases from 15 MWt to 50 MWt was 0.28% ..delta.. K/K, and agreed well with the predicted value of 0.27% ..delta.. K/K. The 75 MWt power ascension tests were conducted in July-August 1979. In the process of the first power increase above 50 MWt to 65 MWt conducted on July 11, 1979, an anomalously large negative power coefficient was observed. The value was about twice the power coefficient values measured in the tests below 50 MW. In order to reproduce the anomaly, the reactor power was decreased and again increased up to the maximum power of 65 MWt. However, the large negative power coefficient was not observed at this time. In the succeeding power increase from 65 MWt to 75 MWt, a similar anomalous power coefficient was again observed. This anomaly disappeared in the subsequent power ascensions to 75 MWt, and the magnitude of the power coefficient gradually decreased with power cycles above the 50 MWt level.

  5. Titanium isotopic anomalies in meteorites

    International Nuclear Information System (INIS)

    Niemeyer, S.; Lugmair, G.W.

    1984-01-01

    High-precision analyses of Ti are reported for samples from a variety of meteorite classes. The expanded data base for Allende inclusions still shows Ti isotope anomalies in every inclusion. All the coarse-grained inclusions give quite similar patterns, but fine-grained inclusions show more variable, and sometimes larger, anomalies. One inclusion, 3675A, was analyzed because others identified it as a possible 'FUN' inclusion due to its mass-fractionated Mg. This designation is supported by the significantly more complex Ti isotopic pattern for 3675A compared to all our other Allende inclusions. Available data fail to suggest that any particular Allende mineral phase, including a chromite-carbon fraction from an acid residue, is especially rich in anomalous Ti. We also find anomalous Ti in a bulk sample of a C1 chondrite and in matrix separates from C2 chondrites. The excesses of 50 Ti are smaller than for Allende inclusions, and subtle differences in Ti isotopic patterns tentatively suggest that parent materials for C1-C2 matrix and Allende inclusions are not directly related. Analyses of chondrules from unequilibrated ordinary chondrites did not yield clear evidence for anomalous Ti, but some 'larger than usual' deficits at 50/46 give encouragement for future work in this direction. (author)

  6. Corpuscular radiation and congenital anomalies

    International Nuclear Information System (INIS)

    Sato, Shinji; Yajima, Akira

    1983-01-01

    Many explorations have been done by our antecessors to find out about the congenital anomalies which might be caused by X-ray or γ-ray and experimental teratological researches have also been done, with some results. However, there have been less systematic studies on corpuscular radiation. Neutron ray is a radioactive ray no electrically-charged equally as photon (X-ray, γ-ray). With an equal dosage of it as photon's, its localized energy is high so that it is different in RBE, OER, etc. In heavy charged particle (proton ray, He ion, Ne ion, π-meson ray), there is the characteristic that the energy increases at around the deepest spot within the range rather than at the point of injection into a system, which is called Bragg peak. The type and energy of this radiation reflected in the uniqueness in energy distribution, in ionization density and in LET makes it the most important radioactive biological parameter. At this paper, we shall review the types of radioactive rays and discuss the congenital anomalies (teratogenecity) including the experimental results obtained by application of our proton ray. (author)

  7. Axial anomalies of Lifshitz fermions

    CERN Document Server

    Bakas, Ioannis

    2011-01-01

    We compute the axial anomaly of a Lifshitz fermion theory with anisotropic scaling z=3 which is minimally coupled to geometry in 3+1 space-time dimensions. We find that the result is identical to the relativistic case using path integral methods. An independent verification is provided by showing with spectral methods that the eta-invariant of the Dirac and Lifshitz fermion operators in three dimensions are equal. Thus, by the integrated form of the anomaly, the index of the Dirac operator still accounts for the possible breakdown of chiral symmetry in non-relativistic theories of gravity. We apply this framework to the recently constructed gravitational instanton backgrounds of Horava-Lifshitz theory and find that the index is non-zero provided that the space-time foliation admits leaves with harmonic spinors. Using Hitchin's construction of harmonic spinors on Berger spheres, we obtain explicit results for the index of the fermion operator on all such gravitational instanton backgrounds with SU(2)xU(1) isom...

  8. A study of dental anomalies

    International Nuclear Information System (INIS)

    Yang, Sook; Kim, Jae Duck

    1993-01-01

    The purpose of this study was to find out the prevalence of dental anomalies in 600 normal persons (male:363, female:237) at age 14 to 39 years, through history taking, oral examination, and radiographic observations of subjects. The obtained results were as follows: 1. The prevalence of individual dental anomalies were as follows; Congenitally missing teeth 7%; supernumerary teeth 1.33%; ectopic eruption 8.50%; transposition 0.33%; rotation 23.67%; microdontia 11.16% (peg lateral is 5.33%; third molar 5.83%); prolonged retention of deciduous teeth 1.33%; crowding 49.83%; and spacing 15.17%. 2. Alterations in numbers of teeth : The most frequently missing teeth were mandibular lateral incisors, followed by mandibular second premolars and maxillary second premolars. In numbers of congenitally missing teeth per person, 52.38% had one missing tooth and 30.95% had two missing teeth. In supernumerary teeth, there was higher rate in male than in female. Most supernumerary teeth were mesiodens of median area in maxilla and the eruption pattern of that teeth generally was unerupted state. 3. In transposition, exchange of position of teeth involved the canine and first premolar. 4. Congenital missing rate of permanent successors in prolonged retention of deciduous teeth was 69.23%. 5. Crowding and spacing had respectively higher rate in mandible and in maxilla.

  9. 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.)

  10. 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

  11. Monitoring the South Atlantic Anomaly Using ATSR

    Science.gov (United States)

    Casadio, Stefano; Arino, Olivier; Serpe, Danilo

    2010-12-01

    Space mission planning needs to quantify the risks arising from exposure to high doses of radiation, as to both the effects on human health and the impact on instrumental efficiency. Constant monitoring of the South Atlantic Anomaly (SAA) is therefore required as it is a major cause of radiation flux increase. In order to address this need, the time evolution of the particle induced noise of the SWIR channels of the Along Track Scanning Radiometer (ATSR) instrument series is analysed in the 1991-2009 time window. The data considered in this work are the night-time SWIR hot spots generated by energetic particles hitting the ATSR detectors when satellites pass through the SAA region. To avoid misinterpretation of results, hot spots due to wildfires (individuated from the ATSR World Fire Atlas products) have been removed. The location and area of the SAA are inferred by fitting a two-dimensional, elliptical Gaussian equation to the SWIR (1.6 μm) night- time hot spots detected over the SAA region. The location of the SAA is found to drift westwards with an average drift rate of about 0.35 deg/yr and northward with an average drift rate of about 0.12 deg/yr. These results are in very good agreement with latest works. Irregularities are found where the speed of the drift changes and the SAA moves eastward and southward, especially in the late 1991 and 2002-2003 time windows. These drift anomalies are attributed to geomagnetic jerks. Results indicate that, as expected, the strength and the area of the SAA are anti-correlated with the sun-spot numbers (SSN) and the 11.7 cm Solar Flux (SF).

  12. 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.

  13. 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.)

  14. 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.

  15. 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)

  16. 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

  17. 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...

  18. 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)

  19. [Double second branchial cleft anomaly].

    Science.gov (United States)

    Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

    2011-01-01

    Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

  20. Vitellointestinal Duct Anomalies in Infancy.

    Science.gov (United States)

    Kadian, Yogender Singh; Verma, Anjali; Rattan, Kamal Nain; Kajal, Pardeep

    2016-01-01

    Vitellointestinal duct (VID) or omphalomesenteric duct anomalies are secondary to the persistence of the embryonic vitelline duct, which normally obliterates by weeks 5-9 of intrauterine life. This is a retrospective analysis of a total of 16 patients of symptomatic remnants of vitellointestinal duct from period of Jan 2009 to May 2013. Male to female ratio (M:F) was 4.3:1 and mean age of presentation was 2 months and their mode of presentation was: patent VID in 9 (56.25%) patients, umbilical cyst in 2(12.25%), umbilical granuloma in 2 (12.25%), and Meckel diverticulum as content of hernia sac in obstructed umbilical hernia in 1 (6.25%) patient. Two patients with umbilical fistula had severe electrolyte disturbance and died without surgical intervention. Persistent VID may have varied presentations in infancy. High output umbilical fistula and excessive bowel prolapse demand urgent surgical intervention to avoid morbidity and mortality.

  1. GRAVITY ANOMALIES OF THE MOON

    Directory of Open Access Journals (Sweden)

    S. G. Pugacheva

    2015-01-01

    Full Text Available The source of gravity anomalies of the Moon are large mascons with a high mass concentration at a depth of volcanic plains and lunar Maria. New data on the gravitational field of the Moon were obtained from two Grail spacecrafts. The article presents the data of physical and mechanical properties of the surface soil layer of the lunar Maria and gives an assessment of the chemical composition of the soil. There have been calculated heterogeneity parameters of the surface macro-relief of the lunar Maria: albedo, soil density, average grain diameter of the particles forming the surface layer and the volume fraction occupied by particles. It can be assumed that mascons include rich KREEP rocks with a high content of thorium and iron oxide. Formation of mascons is connected with intensive development of basaltic volcanism on the Moon in the early periods of its existence.

  2. 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

  3. Tau anomaly and vectorlike families

    International Nuclear Information System (INIS)

    Babu, K.S.; Pati, J.C.; Zhang, X.

    1992-01-01

    The implications of a recently indicated increase in τ lifetime are discussed. It is stressed that the available experimental constraints (from δρ,ε 3 , and N ν , etc.) are satisfied most naturally if the indicated τ anomaly is attributed to the mixing of the τ family with a heavy vectorlike family Q L, R ' with masses ∼200 GeV to 2 TeV, which is a doublet of SU(2) R and singlet of SU(2) L , rather than with a heavy fourth family with standard chiral couplings. L↔R symmetry would imply that Q L, R ' is accompanied by the parity-conjugate family Q L, R which is a doublet of SU(2) L and singlet of SU(2) R . Two such vectorlike families, together with an increase in τ τ , are, in fact, crucial predictions of a recently proposed supersymmetric composite model that possesses many attractive features, in particular, explanations of the origin of diverse scales and family replication. In the context of such a model, it is noted that 3 an increase in τ τ due to mixing involving vectorlike families will necessarily imply a correlated decrease in neutrino counting N ν from the CERN e + e- collider LEP from 3. Such a decrease in N ν would be absent, however, if the τ anomaly is attributed to a mixing involving a standard fourth family with chiral couplings. Because of the seesaw nature of the mass matrix of the three chiral and two vectorlike families, that arises naturally in the model, departures from universality in the first two families as well as in bar bb and τ + τ - channels (linked to down flavors) are strongly suppressed, in accord with observations

  4. Life Span Developmental Approach

    Directory of Open Access Journals (Sweden)

    Ali Eryilmaz

    2011-03-01

    Full Text Available The Life Span Developmental Approach examines development of individuals which occurs from birth to death. Life span developmental approach is a multi-disciplinary approach related with disciplines like psychology, psychiatry, sociology, anthropology and geriatrics that indicates the fact that development is not completed in adulthood, it continues during the life course. Development is a complex process that consists of dying and death. This approach carefully investigates the development of individuals with respect to developmental stages. This developmental approach suggests that scientific disciplines should not explain developmental facts only with age changes. Along with aging, cognitive, biological, and socioemotional development throughout life should also be considered to provide a reasonable and acceptable context, guideposts, and reasonable expectations for the person. There are three important subjects whom life span developmental approach deals with. These are nature vs nurture, continuity vs discontinuity, and change vs stability. Researchers using life span developmental approach gather and produce knowledge on these three most important domains of individual development with their unique scientific methodology.

  5. 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.

  6. 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.)

  7. Hawking radiation of black rings from anomalies

    International Nuclear Information System (INIS)

    Chen Bin; He Wei

    2008-01-01

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

  8. 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.

  9. 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...

  10. Remarks on global anomalies in RCFT orientifolds

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-01-26

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

  11. Hamiltonian formulation of anomaly free chiral bosons

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  12. 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....

  13. 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.

  14. 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...

  15. 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.

  16. 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

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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

  2. 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.

  3. Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): Developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22

    International Nuclear Information System (INIS)

    Lieberburg, I.; Spinner, N.; Snyder, S.

    1989-01-01

    Neurofilaments (NFs) are the intermediate filaments specific to nervous tissue. Three peptides with apparent molecular masses of approximately 68 (NF-L), 145 (NF-M), and 200 (NF-H) kDa appear to be the major components of NF. The expression of these peptides is specific to nervous tissue and is developmentally regulated. Recently, complete cDNAs encoding NF-L and NF-M, and partial cDNAs encoding NF-H, have been described. To better understand the normal pathophysiology of NFs the authors chose to clone the cDNA encoding the rat NF-H peptide. Using monoclonal antibodies that recognized NF-H, they screened a rat brain λgt11 library and identified a clone that contained a 2,100-nucleotide cDNA insert representing the carboxyl-terminal portion of the NF-H protein. Levels of NF-H mRNA varied 20-fold among brain regions, with highest levels in pons/medulla, spinal cord, and cerebellum, and lowest levels in olfactory bulb and hypothalamus. Based on these results, the authors infer that half of the developmental increase and most of the interregional variation in the levels of the NF-H mRNA are mediated through message stabilization. Sequence information revealed that the carboxyl-terminal region of the NF-H peptide contained a unique serine-, proline-, alanine-, glutamic acid-, and lysine-rich repeat. Genomic blots revealed a single copy of the gene in the rat genome and two copies in the human genome. In situ hybridizations performed on human chromosomes mapped the NF-H gene to chromosomes 1 and 22

  4. Identification of a developmental gene expression signature, including HOX genes, for the normal human colonic crypt stem cell niche: overexpression of the signature parallels stem cell overpopulation during colon tumorigenesis.

    Science.gov (United States)

    Bhatlekar, Seema; Addya, Sankar; Salunek, Moreh; Orr, Christopher R; Surrey, Saul; McKenzie, Steven; Fields, Jeremy Z; Boman, Bruce M

    2014-01-15

    Our goal was to identify a unique gene expression signature for human colonic stem cells (SCs). Accordingly, we determined the gene expression pattern for a known SC-enriched region--the crypt bottom. Colonic crypts and isolated crypt subsections (top, middle, and bottom) were purified from fresh, normal, human, surgical specimens. We then used an innovative strategy that used two-color microarrays (∼18,500 genes) to compare gene expression in the crypt bottom with expression in the other crypt subsections (middle or top). Array results were validated by PCR and immunostaining. About 25% of genes analyzed were expressed in crypts: 88 preferentially in the bottom, 68 in the middle, and 131 in the top. Among genes upregulated in the bottom, ∼30% were classified as growth and/or developmental genes including several in the PI3 kinase pathway, a six-transmembrane protein STAMP1, and two homeobox (HOXA4, HOXD10) genes. qPCR and immunostaining validated that HOXA4 and HOXD10 are selectively expressed in the normal crypt bottom and are overexpressed in colon carcinomas (CRCs). Immunostaining showed that HOXA4 and HOXD10 are co-expressed with the SC markers CD166 and ALDH1 in cells at the normal crypt bottom, and the number of these co-expressing cells is increased in CRCs. Thus, our findings show that these two HOX genes are selectively expressed in colonic SCs and that HOX overexpression in CRCs parallels the SC overpopulation that occurs during CRC development. Our study suggests that developmental genes play key roles in the maintenance of normal SCs and crypt renewal, and contribute to the SC overpopulation that drives colon tumorigenesis.

  5. Developmental process and early phases of implementation for the United States Interagency Committee on Human Nutrition Research National Nutrition Research Roadmap

    Science.gov (United States)

    The United States Congress first called for improved coordination of human nutrition research within and among federal departments and agencies in the 1977 Farm Bill. Today, the Interagency Committee on Human Nutrition Research (ICHNR) is charged with improving the planning, coordination, and commu...

  6. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... With a special focus on placental toxicity, this book is the only available reference to connect the three key risk stages, and is the only resource to include reproductive and developmental toxicity in domestic animals, fish, and wildlife.

  7. Developmental coordination disorder

    Science.gov (United States)

    Developmental coordination disorder can lead to: Learning problems Low self-esteem resulting from poor ability at sports and teasing by other children Repeated injuries Weight gain as a result of not wanting to participate ...

  8. Facts about Developmental Disabilities

    Science.gov (United States)

    ... play, learn, speak, behave, and move (for example, crawling and walking). Children develop at their own pace, ... person’s lifetime. Most developmental disabilities begin before a baby is born, but some can happen after birth ...

  9. Life Span Developmental Approach

    OpenAIRE

    Ali Eryilmaz

    2011-01-01

    The Life Span Developmental Approach examines development of individuals which occurs from birth to death. Life span developmental approach is a multi-disciplinary approach related with disciplines like psychology, psychiatry, sociology, anthropology and geriatrics that indicates the fact that development is not completed in adulthood, it continues during the life course. Development is a complex process that consists of dying and death. This approach carefully investigates the development of...

  10. Anomaly Detection in Dynamic Networks

    Energy Technology Data Exchange (ETDEWEB)

    Turcotte, Melissa [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2014-10-14

    Anomaly detection in dynamic communication networks has many important security applications. These networks can be extremely large and so detecting any changes in their structure can be computationally challenging; hence, computationally fast, parallelisable methods for monitoring the network are paramount. For this reason the methods presented here use independent node and edge based models to detect locally anomalous substructures within communication networks. As a first stage, the aim is to detect changes in the data streams arising from node or edge communications. Throughout the thesis simple, conjugate Bayesian models for counting processes are used to model these data streams. A second stage of analysis can then be performed on a much reduced subset of the network comprising nodes and edges which have been identified as potentially anomalous in the first stage. The first method assumes communications in a network arise from an inhomogeneous Poisson process with piecewise constant intensity. Anomaly detection is then treated as a changepoint problem on the intensities. The changepoint model is extended to incorporate seasonal behavior inherent in communication networks. This seasonal behavior is also viewed as a changepoint problem acting on a piecewise constant Poisson process. In a static time frame, inference is made on this extended model via a Gibbs sampling strategy. In a sequential time frame, where the data arrive as a stream, a novel, fast Sequential Monte Carlo (SMC) algorithm is introduced to sample from the sequence of posterior distributions of the change points over time. A second method is considered for monitoring communications in a large scale computer network. The usage patterns in these types of networks are very bursty in nature and don’t fit a Poisson process model. For tractable inference, discrete time models are considered, where the data are aggregated into discrete time periods and probability models are fitted to the

  11. 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…

  12. Spatial coordinate systems for tactile spatial attention depend on developmental vision: evidence from event-related potentials in sighted and congenitally blind adult humans.

    Science.gov (United States)

    Röder, Brigitte; Föcker, Julia; Hötting, Kirsten; Spence, Charles

    2008-08-01

    Changes in limb posture (such as crossing the hands) can impair people's performance in tasks such as those involving temporal order judgements, when one tactile stimulus is presented to either hand. This crossed hands deficit has been attributed to a conflict between externally and anatomically anchored reference systems when people localize tactile stimuli. Interestingly, however, the performance of congenitally blind adults does not seem to be affected by crossing the hands, suggesting a default use of an anatomically rather than an externally anchored reference system for tactile localization. In the present study, 12 congenitally blind and 12 sighted adults were instructed to attend to either the left or the right hand on a trial-by-trial basis in order to detect rare deviants (consisting of a double touch) at that hand, while ignoring both deviants at the other hand and frequent standard stimuli (consisting of a single touch) presented to either hand. Only the sighted participants performed less accurately when they crossed their hands. Concurrent electroencephalogram recordings revealed an early contralateral attention positivity, followed by an attention negativity in the sighted group when they adopted the uncrossed hands posture. For the crossed hand posture, only the attention negativity was observed with reduced amplitude in the sighted group. By contrast, the congenitally blind group displayed an event-related potential attention negativity that did not vary when the posture of their hands was changed. These results demonstrate that the default use of an external frame of reference for tactile localization seems to depend on developmental vision.

  13. Rare events in earth history include the LB1 human skeleton from Flores, Indonesia, as a developmental singularity, not a unique taxon

    Science.gov (United States)

    Eckhardt, Robert B.; Henneberg, Maciej; Weller, Alex S.; Hsü, Kenneth J.

    2014-08-01

    The original centrally defining features of "Homo floresiensis" are based on bones represented only in the single specimen LB1. Initial published values of 380-mL endocranial volume and 1.06-m stature are markedly lower than later attempts to confirm them, and facial asymmetry originally unreported, then denied, has been established by our group and later confirmed independently. Of nearly 200 syndromes in which microcephaly is one sign, more than half include asymmetry as another sign and more than one-fourth also explicitly include short stature. The original diagnosis of the putative new species noted and dismissed just three developmental abnormalities. Subsequent independent attempts at diagnosis (Laron Syndrome, Majewski osteodysplastic primordial dwarfism type II, cretinism) have been hampered a priori by selectively restricted access to specimens, and disparaged a posteriori using data previously unpublished, without acknowledging that all of the independent diagnoses corroborate the patent abnormal singularity of LB1. In this report we establish in detail that even in the absence of a particular syndromic diagnosis, the originally defining features of LB1 do not establish either the uniqueness or normality necessary to meet the formal criteria for a type specimen of a new species. In a companion paper we present a new syndromic diagnosis for LB1.

  14. Anomalies, Unitarity and Quantum Irreversibility

    CERN Document Server

    Anselmi, D

    1999-01-01

    The trace anomaly in external gravity is the sum of three terms at criticality: the square of the Weyl tensor, the Euler density and Box R, with coefficients, properly normalized, called c, a and a', the latter being ambiguously defined by an additive constant. Unitarity and positivity properties of the induced actions allow us to show that the total RG flows of a and a' are equal and therefore the a'-ambiguity can be consistently removed through the identification a'=a. The picture that emerges clarifies several long-standing issues. The interplay between unitarity and renormalization implies that the flux of the renormalization group is irreversible. A monotonically decreasing a-function interpolating between the appropriate values is naturally provided by a'. The total a-flow is expressed non-perturbatively as the invariant (i.e. scheme-independent) area of the graph of the beta function between the fixed points. We test this prediction to the fourth loop order in perturbation theory, in QCD with Nf ~< ...

  15. Data Mining for Anomaly Detection

    Science.gov (United States)

    Biswas, Gautam; Mack, Daniel; Mylaraswamy, Dinkar; Bharadwaj, Raj

    2013-01-01

    The Vehicle Integrated Prognostics Reasoner (VIPR) program describes methods for enhanced diagnostics as well as a prognostic extension to current state of art Aircraft Diagnostic and Maintenance System (ADMS). VIPR introduced a new anomaly detection function for discovering previously undetected and undocumented situations, where there are clear deviations from nominal behavior. Once a baseline (nominal model of operations) is established, the detection and analysis is split between on-aircraft outlier generation and off-aircraft expert analysis to characterize and classify events that may not have been anticipated by individual system providers. Offline expert analysis is supported by data curation and data mining algorithms that can be applied in the contexts of supervised learning methods and unsupervised learning. In this report, we discuss efficient methods to implement the Kolmogorov complexity measure using compression algorithms, and run a systematic empirical analysis to determine the best compression measure. Our experiments established that the combination of the DZIP compression algorithm and CiDM distance measure provides the best results for capturing relevant properties of time series data encountered in aircraft operations. This combination was used as the basis for developing an unsupervised learning algorithm to define "nominal" flight segments using historical flight segments.

  16. Collie Eye Anomaly in Switzerland.

    Science.gov (United States)

    Walser-Reinhardt, L; Hässig, M; Spiess, B

    2009-12-01

    In this retrospective study, the results of 3'527 eye examinations in 6 different breeds affected with Collie Eye Anomaly (CEA) over a period of 8 years (1999 - 2007) are described. CEA was divided into three main ophthalmoscopic features, a) choroidal hypoplasia (CRH), b) CRH and coloboma and c) coloboma alone. Of the 101 Smooth Collies 8.9 % showed signs of CRH, whereas 36.9 % of Rough Collies were affected with CRH, 2.8 % with CRH and coloboma and 0.38 % with coloboma alone. Choroidal hypoplasia was present in 13.1 %, CRH and coloboma in 1.8 % and coloboma alone in 0.2 % of the Shetland Sheepdogs. Only one Australian Shepherd dog had CRH, while 0.7 % of the Border Collies were affected with CRH. None of the Nova Scotia Duck Tolling Retrievers were affected with CEA. There were no statistically significant differences in the occurrence of CEA between males and females, nor was there any relation between coat colors. Significant differences could be shown between dogs younger or older than 8 weeks at first examination. CEA was more often diagnosed in dogs younger than 8 weeks within the Rough Collie and Shetland Sheepdog.

  17. Developmental anatomy of the liver from computerized three-dimensional reconstructions of four human embryos (from Carnegie stage 14 to 23).

    Science.gov (United States)

    Lhuaire, Martin; Tonnelet, Romain; Renard, Yohann; Piardi, Tullio; Sommacale, Daniele; Duparc, Fabrice; Braun, Marc; Labrousse, Marc

    2015-07-01

    Some aspects of human embryogenesis and organogenesis remain unclear, especially concerning the development of the liver and its vasculature. The purpose of this study was to investigate, from a descriptive standpoint, the evolutionary morphogenesis of the human liver and its vasculature by computerized three-dimensional reconstructions of human embryos. Serial histological sections of four human embryos at successive stages of development belonging to three prestigious French historical collections were digitized and reconstructed in 3D using software commonly used in medical radiology. Manual segmentation of the hepatic anatomical regions of interest was performed section by section. In this study, human liver organogenesis was examined at Carnegie stages 14, 18, 21 and 23. Using a descriptive and an analytical method, we showed that these stages correspond to the implementation of the large hepatic vascular patterns (the portal system, the hepatic artery and the hepatic venous system) and the biliary system. To our knowledge, our work is the first descriptive morphological study using 3D computerized reconstructions from serial histological sections of the embryonic development of the human liver between Carnegie stages 14 and 23. Copyright © 2015 Elsevier GmbH. All rights reserved.

  18. 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.

  19. 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.

  20. 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.

  1. 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.)

  2. 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.

  3. 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.)

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. Developmental capacity of in vitro-matured human oocytes retrieved from polycystic ovary syndrome ovaries containing no follicles larger than 6 mm.

    Science.gov (United States)

    Guzman, Luis; Ortega-Hrepich, Carolina; Albuz, Firas K; Verheyen, Greta; Devroey, Paul; Smitz, Johan; De Vos, Michel

    2012-08-01

    To test the developmental competence of oocytes in a nonhCG-triggered in vitro maturation (IVM) system when oocyte-cumulus complexes (OCC) are retrieved from antral follicles with a diameter of polycystic ovaries/polycystic ovary syndrome underwent 239 IVM cycles in total. In 58 of these cycles (44 patients), all antral follicles had a diameter of <6 mm on the day of oocyte retrieval. NonhCG-triggered IVM of oocytes, fresh or vitrified/warmed embryo transfer (ET). Oocyte diameter, maturation rate, fertilization rate, embryo development and morphology, implantation rate, clinical pregnancy rate, ongoing pregnancy rate. Oocyte retrieval yielded 16.7 OCC/cycle, and 50.8% of oocytes completed IVM. The mean oocyte diameter increased from 108.8 ± 4.3 μm to 111.9 ± 4.1 μm after IVM. Mean fertilization rate was 63.7%, and 45.4% of 2-pronuclei oocytes developed into a morphologically good-quality embryo on day 3 after intracytoplasmic sperm injection. Fresh ET resulted in two ongoing pregnancies (2/37; 5.4%). Deferred vitrified-warmed ET led to an ongoing pregnancy rate of 34.6% (9/24). Three healthy babies were born and eight pregnancies were still ongoing. Oocytes retrieved from follicles with a diameter of <6 mm grow during a 40-hour IVM culture can acquire full competence in vitro, as illustrated by their development into healthy offspring. Endometrial quality appears to be a crucial determinant of pregnancy after nonhCG-triggered IVM. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  9. Developmental Process and Early Phases of Implementation for the US Interagency Committee on Human Nutrition Research National Nutrition Research Roadmap 2016-2021.

    Science.gov (United States)

    Fleischhacker, Sheila E; Ballard, Rachel M; Starke-Reed, Pamela E; Galuska, Deborah A; Neuhouser, Marian L

    2017-10-01

    The Interagency Committee on Human Nutrition Research (ICHNR) is charged with improving the planning, coordination, and communication among federal agencies engaged in nutrition research and with facilitating the development and updating of plans for federal research programs to meet current and future domestic and international needs for nutrition. The ICHNR is co-chaired by the USDA Under Secretary for Research, Education, and Economics and Chief Scientist and the US Department of Health and Human Services Assistant Secretary for Health and is made up of >10 departments and agencies. Once the ICHNR was reassembled after a 10-y hiatus, the ICHNR recognized a need for a written roadmap to identify critical human nutrition research gaps and opportunities. This commentary provides an overview of the process the ICHNR undertook to develop a first-of-its-kind National Nutrition Research Roadmap, which was publicly released on 4 March 2016. The primary audience for the Roadmap is federal science agency leaders, along with relevant program and policy staff who rely on federally supported human nutrition research, in addition to the broader scientific community. The Roadmap is framed around the following 3 questions: 1 ) How can we better understand and define eating patterns to improve and sustain health? 2 ) What can be done to help people choose healthy eating patterns? 3 ) How can we develop and engage innovative methods and systems to accelerate discoveries in human nutrition? Within these 3 questions, 11 topical areas were identified on the basis of the following criteria: population impact, feasibility given current technological capacities, and emerging scientific opportunities. This commentary highlights initial federal and some professional research society efforts to address the Roadmap's research and resource priorities. We conclude by noting examples of early collaborations and partnerships to move human nutrition research forward in the 21st century. © 2017

  10. 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)

  11. 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.

  12. 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-...

  13. 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.

  14. 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.)

  15. Mexico Terrain Corrected Free Air Anomalies (97)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 2' gravity anomaly grid for Mexico, North-Central America and the Western Caribbean Sea is NOT the input data set used in the development of the MEXICO97 model....

  16. SEG US Bouguer Gravity Anomaly Grid

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The SEG gravity data are the product of the ad hoc Gravity Anomaly Map (GAM) Committee, sponsored by the Society of Exploration Geophysicists (SEG) and the U.S....

  17. Conformal anomalies in curved space--time

    Energy Technology Data Exchange (ETDEWEB)

    Duncan, A.

    1976-11-01

    The general form of the conformal anomaly in a dimensionally regularized theory of massless fermions in a background metric is shown to be determined by the first few terms of weak field perturbation theory.

  18. Magnetic anomalies in Central Bengal fan

    Digital Repository Service at National Institute of Oceanography (India)

    Rao, T.C.S.; Lakshminarayana, S.; Sarma, K.V.L.N.S.

    Total magnetic field anomalies recorded over the Central Bengal Fan are analysed and the depths to the magnetic basement are computed using the analytical signal and the Werner deconvolution methods. To the west and east of 85 degrees E...

  19. Quantum machine learning for quantum anomaly detection

    Science.gov (United States)

    Liu, Nana; Rebentrost, Patrick

    2018-04-01

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

  20. Deconstruction and reconstruction of an anomaly

    Czech Academy of Sciences Publication Activity Database

    Engelmann, Dirk; Strobel, M.

    2012-01-01

    Roč. 76, č. 2 (2012), s. 678-689 ISSN 0899-8256 Institutional support: RVO:67985998 Keywords : anomalies * false consensus * information processing Subject RIV: AH - Economics Impact factor: 1.000, year: 2012

  1. 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.

  2. Detection of cardiovascular anomalies: Hybrid systems approach

    KAUST Repository

    Ledezma, Fernando; Laleg-Kirati, Taous-Meriem

    2012-01-01

    In this paper, we propose a hybrid interpretation of the cardiovascular system. Based on a model proposed by Simaan et al. (2009), we study the problem of detecting cardiovascular anomalies that can be caused by variations in some physiological

  3. Residual generator for cardiovascular anomalies detection

    KAUST Repository

    Belkhatir, Zehor; Laleg-Kirati, Taous-Meriem; Tadjine, Mohamed

    2014-01-01

    This paper discusses the possibility of using observer-based approaches for cardiovascular anomalies detection and isolation. We consider a lumped parameter model of the cardiovascular system that can be written in a form of nonlinear state

  4. Glycomic Analysis of Life Stages of the Human Parasite Schistosoma mansoni Reveals Developmental Expression Profiles of Functional and Antigenic Glycan Motifs

    NARCIS (Netherlands)

    Smit, C.H.; van Diepen, A.; Nguyen, D.L.; Wuhrer, M.; Hoffmann, K.F.; Deelder, A.M.; Hokke, C.H.

    2015-01-01

    Glycans present on glycoproteins and glycolipids of the major human parasite Schistosoma mansoni induce innate as well as adaptive immune responses in the host. To be able to study the molecular characteristics of schistosome infections it is therefore required to determine the expression profiles

  5. The human neonatal small intestine has the potential for arginine synthesis; developmental changes in the expression of arginine-synthesizing and -catabolizing enzymes

    Directory of Open Access Journals (Sweden)

    Ruijter Jan M

    2008-11-01

    Full Text Available Abstract Background Milk contains too little arginine for normal growth, but its precursors proline and glutamine are abundant; the small intestine of rodents and piglets produces arginine from proline during the suckling period; and parenterally fed premature human neonates frequently suffer from hypoargininemia. These findings raise the question whether the neonatal human small intestine also expresses the enzymes that enable the synthesis of arginine from proline and/or glutamine. Carbamoylphosphate synthetase (CPS, ornithine aminotransferase (OAT, argininosuccinate synthetase (ASS, arginase-1 (ARG1, arginase-2 (ARG2, and nitric-oxide synthase (NOS were visualized by semiquantitative immunohistochemistry in 89 small-intestinal specimens. Results Between 23 weeks of gestation and 3 years after birth, CPS- and ASS-protein content in enterocytes was high and then declined to reach adult levels at 5 years. OAT levels declined more gradually, whereas ARG-1 was not expressed. ARG-2 expression increased neonatally to adult levels. Neurons in the enteric plexus strongly expressed ASS, OAT, NOS1 and ARG2, while varicose nerve fibers in the circular layer of the muscularis propria stained for ASS and NOS1 only. The endothelium of small arterioles expressed ASS and NOS3, while their smooth-muscle layer expressed OAT and ARG2. Conclusion The human small intestine acquires the potential to produce arginine well before fetuses become viable outside the uterus. The perinatal human intestine therefore resembles that of rodents and pigs. Enteral ASS behaves as a typical suckling enzyme because its expression all but disappears in the putative weaning period of human infants.

  6. Reading in developmental prosopagnosia

    DEFF Research Database (Denmark)

    Starrfelt, Randi; Klargaard, Solja K; Petersen, Anders

    2018-01-01

    exposure durations (targeting the word superiority effect), and d) text reading. RESULTS: Participants with developmental prosopagnosia performed strikingly similar to controls across the four reading tasks. Formal analysis revealed a significant dissociation between word and face recognition......, that is, impaired reading in developmental prosopagnosia. METHOD: We tested 10 adults with developmental prosopagnosia and 20 matched controls. All participants completed the Cambridge Face Memory Test, the Cambridge Face Perception test and a Face recognition questionnaire used to quantify everyday face...... recognition experience. Reading was measured in four experimental tasks, testing different levels of letter, word, and text reading: (a) single word reading with words of varying length,(b) vocal response times in single letter and short word naming, (c) recognition of single letters and short words at brief...

  7. 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.

  8. Perturbative and global anomalies in supergravity theories

    International Nuclear Information System (INIS)

    Sezgin, E.

    1986-09-01

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

  9. Reports on various anomalies of the ribs

    Energy Technology Data Exchange (ETDEWEB)

    Brinkmann, G.; Brix, F.

    1988-02-01

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

  10. Reports on various anomalies of the ribs

    International Nuclear Information System (INIS)

    Brinkmann, G.; Brix, F.

    1988-01-01

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

  11. 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

  12. Neutrino scattering and the reactor antineutrino anomaly

    Science.gov (United States)

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

    2017-12-01

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

  13. Modular invariance, chiral anomalies and contact terms

    International Nuclear Information System (INIS)

    Kutasov, D.

    1988-03-01

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

  14. 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.

  15. The Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge

    2001-01-01

    AbstractIn the nineties, the concept of the developmental work (DW) has become a significant point of orientation for the actors on Danish labour market. The DW has moved the focus of the labour market from wages and working time towards work and production. For employees, the DW promises...... developmental possibilities, influence and responsibility, but also greater social responsibility for the firm. For firms, the DW promises increased competitiveness and better products. In this paper we present the concept of the DW as one which encourages the development of work, production and organisation...... of the firm and show that the DW is different from mainstream management concepts, as the DW...

  16. 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.

  17. 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)

  18. Male-mediated developmental toxicity

    Directory of Open Access Journals (Sweden)

    Diana Anderson

    2014-02-01

    Full Text Available Male-mediated developmental toxicity has been of concern for many years. The public became aware of male-mediated developmental toxicity in the early 1990s when it was reported that men working at Sellafield might be causing leukemia in their children. Human and animal studies have contributed to our current understanding of male-mediated effects. Animal studies in the 1980s and 1990s suggested that genetic damage after radiation and chemical exposure might be transmitted to offspring. With the increasing understanding that there is histone retention and modification, protamine incorporation into the chromatin and DNA methylation in mature sperm and that spermatozoal RNA transcripts can play important roles in the epigenetic state of sperm, heritable studies began to be viewed differently. Recent reports using molecular approaches have demonstrated that DNA damage can be transmitted to babies from smoking fathers, and expanded simple tandem repeats minisatellite mutations were found in the germline of fathers who were exposed to radiation from the Chernobyl nuclear power plant disaster. In epidemiological studies, it is possible to clarify whether damage is transmitted to the sons after exposure of the fathers. Paternally transmitted damage to the offspring is now recognized as a complex issue with genetic as well as epigenetic components.

  19. 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.

  20. 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

  1. Arguments from Developmental Order.

    Science.gov (United States)

    Stöckle-Schobel, Richard

    2016-01-01

    In this article, I investigate a special type of argument regarding the role of development in theorizing about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind - getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories. Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasizing the importance of the early cognitive processes and arguments emphasizing the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive) development, and I will present some topics that also pertain to a full-fledged 'philosophy of development.'

  2. Developmental Education Evaluation Model.

    Science.gov (United States)

    Perry-Miller, Mitzi; And Others

    A developmental education evaluation model designed to be used at a multi-unit urban community college is described. The purpose of the design was to determine the cost effectiveness/worth of programs in order to initiate self-improvement. A needs assessment was conducted by interviewing and taping the responses of students, faculty, staff, and…

  3. Arguments from Developmental Order

    Directory of Open Access Journals (Sweden)

    Richard eStöckle-Schobel

    2016-05-01

    Full Text Available In this article, I investigate a special type of argument regarding the role of development in theorising about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind – getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories.Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasising the importance of the early cognitive processes and arguments emphasising the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive development, and I will present some topics that also pertain to a full-fledged ‘philosophy of development’.

  4. Developmental paediatric anaesthetic pharmacology

    DEFF Research Database (Denmark)

    Hansen, Tom Giedsing

    2015-01-01

    Safe and effective drug therapy in neonates, infants and children require detailed knowledge about the ontogeny of drug disposition and action as well how these interact with genetics and co-morbidity of children. Recent advances in developmental pharmacology in children follow the increased...

  5. Regulations of enzymes in animals: effects of developmental processes, cancer, and radiation. Final report. [Analysis of enzymes in human cancer tissue

    Energy Technology Data Exchange (ETDEWEB)

    Knox, W.E.

    1978-09-01

    Low grade tumors of various origins are chemically very different. High grade tumors, whatever their origin, are chemically very similar to one another and to embryonic tissues. Analyses of human tumor tissues and sera from cancer patients were conducted for two new groups of enzymes expected to be informative about the physiological state of the tissue. The enzymes measured in tumors and sera were chosen because they were characteristic of fetal tissues and high grade neoplasms in rats, and could, therefore, be expected to exist in human cancers (and fetuses) and to predominate more in those of higher grade malignancies. Results indicated that the classification of enzymes (or isozymes) as fetal or adult types in the rat could be extended to man. Human cancers do contain most of the enzymes expected, and lack others, as expected. Analyses of the same enzymes in sera gave less clear results. It was recognized at the outset that no simple proportionality existed between tissue and serum levels. The tendency existed in cancer patients to have in serum elevated amounts of those enzymes characteristic of undifferentiated tissues. The abnormalities in a specific patient are conditioned by his physiological state, by the grade of his tumor, and by the mass of tumor present. The tumor mass had a very significant effect, so that monitoring this tumor burden by chemical means should be quite possible. The latest work focused on particular enzymes that have not previously been measured in cancer patients. These studies concentrated on pyrroline-5-carboxylate (P-5-C) reductase and its inhibition and on lysosomal glucosidases and phosphatases. Both groups are relatively high in fetal and neoplastic tissues.

  6. 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 ...

  7. 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...

  8. 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...

  9. 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.

  10. Anatomy of the pectoral and forelimb muscles of wildtype and green fluorescent protein-transgenic axolotls and comparison with other tetrapods including humans: a basis for regenerative, evolutionary and developmental studies

    Science.gov (United States)

    Diogo, R; Tanaka, E M

    2012-01-01

    The axolotl Ambystoma mexicanum is one of the most used model organisms in evolutionary, developmental and regenerative studies, particularly because it can reconstitute a fully functional and complete forelimb/hindlimb. Surprisingly, there is no publication that describes all the pectoral and forelimb muscles of this species or provides a comparative framework between these muscles and those of other model organisms and of modern humans. In the present paper we describe and illustrate all these muscles in A. mexicanum and provide the first report about the myology of adults of a model organism that is based on analyses and dissections of both wildtype animals and transgenic animals that express green fluorescent protein (GFP) in muscle fibers. On the one hand, the inclusion of GFP-transgenic animals allows us to show the muscles as more commonly seen, and thus easier to understand, by current developmental and regenerative biologists. On the other hand, by including wildtype and GFP-transgenic animals and by visualizing these latter animals with and without a simultaneous transmission laser light, we were able to obtain a more complete and clearer understanding of the exact limit of the fleshy and tendinous parts of the muscles and their specific connections with the skeletal elements. This in turn allowed us to settle some controversies in previous anatomical and comparative studies. As most developmental, regenerative and evolutionary biologists are interested in comparing their observations of A. mexicanum with observations in other model organisms, and ultimately in using this information to increase the understanding of human evolution and medicine, we also provide tables showing the homologies between the pectoral and forelimb muscles of axolotls, of model organisms such as mice, frogs and chicken, and of Homo sapiens. An example illustrating the outcomes of using our methodology and of our observations is that they revealed that, contrary to what is often

  11. Anatomy of the pectoral and forelimb muscles of wildtype and green fluorescent protein-transgenic axolotls and comparison with other tetrapods including humans: a basis for regenerative, evolutionary and developmental studies.

    Science.gov (United States)

    Diogo, R; Tanaka, E M

    2012-12-01

    The axolotl Ambystoma mexicanum is one of the most used model organisms in evolutionary, developmental and regenerative studies, particularly because it can reconstitute a fully functional and complete forelimb/hindlimb. Surprisingly, there is no publication that describes all the pectoral and forelimb muscles of this species or provides a comparative framework between these muscles and those of other model organisms and of modern humans. In the present paper we describe and illustrate all these muscles in A. mexicanum and provide the first report about the myology of adults of a model organism that is based on analyses and dissections of both wildtype animals and transgenic animals that express green fluorescent protein (GFP) in muscle fibers. On the one hand, the inclusion of GFP-transgenic animals allows us to show the muscles as more commonly seen, and thus easier to understand, by current developmental and regenerative biologists. On the other hand, by including wildtype and GFP-transgenic animals and by visualizing these latter animals with and without a simultaneous transmission laser light, we were able to obtain a more complete and clearer understanding of the exact limit of the fleshy and tendinous parts of the muscles and their specific connections with the skeletal elements. This in turn allowed us to settle some controversies in previous anatomical and comparative studies. As most developmental, regenerative and evolutionary biologists are interested in comparing their observations of A. mexicanum with observations in other model organisms, and ultimately in using this information to increase the understanding of human evolution and medicine, we also provide tables showing the homologies between the pectoral and forelimb muscles of axolotls, of model organisms such as mice, frogs and chicken, and of Homo sapiens. An example illustrating the outcomes of using our methodology and of our observations is that they revealed that, contrary to what is often

  12. How similar are fluid cognition and general intelligence? A developmental neuroscience perspective on fluid cognition as an aspect of human cognitive ability.

    Science.gov (United States)

    Blair, Clancy

    2006-04-01

    This target article considers the relation of fluid cognitive functioning to general intelligence. A neurobiological model differentiating working memory/executive function cognitive processes of the prefrontal cortex from aspects of psychometrically defined general intelligence is presented. Work examining the rise in mean intelligence-test performance between normative cohorts, the neuropsychology and neuroscience of cognitive function in typically and atypically developing human populations, and stress, brain development, and corticolimbic connectivity in human and nonhuman animal models is reviewed and found to provide evidence of mechanisms through which early experience affects the development of an aspect of cognition closely related to, but distinct from, general intelligence. Particular emphasis is placed on the role of emotion in fluid cognition and on research indicating fluid cognitive deficits associated with early hippocampal pathology and with dysregulation of the hypothalamic-pituitary-adrenal axis stress-response system. Findings are seen to be consistent with the idea of an independent fluid cognitive construct and to assist with the interpretation of findings from the study of early compensatory education for children facing psychosocial adversity and from behavior genetic research on intelligence. It is concluded that ongoing development of neurobiologically grounded measures of fluid cognitive skills appropriate for young children will play a key role in understanding early mental development and the adaptive success to which it is related, particularly for young children facing social and economic disadvantage. Specifically, in the evaluation of the efficacy of compensatory education efforts such as Head Start and the readiness for school of children from diverse backgrounds, it is important to distinguish fluid cognition from psychometrically defined general intelligence.

  13. 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…

  14. [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.

  15. Fourth branchial complex anomalies: a case series.

    Science.gov (United States)

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

    2003-11-01

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

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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.