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Sample records for vacterl vertebral anomalies

  1. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

    PubMed Central

    Chen, Yixin; Liu, Zhenlei; Chen, Jia; Zuo, Yuzhi; Liu, Sen; Chen, Weisheng; Liu, Gang; Qiu, Guixing; Giampietro, Philip F; Wu, Nan; Wu, Zhihong

    2016-01-01

    VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60–95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies. PMID:27084730

  2. Analysis of Renal Anomalies in VACTERL Association

    PubMed Central

    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 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 US shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. PMID:25196458

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

    PubMed

    Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

    2016-03-01

    VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus. PMID:26929876

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

    PubMed Central

    Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

    2015-01-01

    VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly—in the absence of hydrocephalus. PMID:26929876

  5. VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality

    PubMed Central

    Bhagat, Manish

    2015-01-01

    The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia of the right hip, dislocation of the left knee and the left club foot. The karyotype revealed 46, X,i (Yp), i.e. deletion in the long arm, while duplication in the short arm of the Y chromosome (isochromosome Yp), which has never been previously reported in VACTERL association. PMID:25988067

  6. Posterior Vertebral Column Resection for VATER/VACTERL Associated Spinal Deformity: A Case Report

    PubMed Central

    Cunningham, Matthew E.; Charles, Gina

    2006-01-01

    The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, and renal or limb malformations. Vertebral malformations may include the entire spectrum of congenital spinal deformities, including kyphosis, as was seen in this case. A 14-year-old girl presented to our institution with severe rigid sagittal deformity in the thoracolumbar spine that had recurred following three prior spinal fusion surgeries: the first posterior only, the second anterior and posterior, and the third a posterior only proximal extension. These surgeries were performed to control progressive kyphosis from a complex failure of segmentation that resulted in a 66° kyphosis from T11 to L3 by the time she was 9 years old. Our evaluation revealed solid arthrodesis from the most recent procedures with resultant sagittal imbalance, and surgical options to restore balance included anterior and posterior revision spinal fusion with osteotomies, multiple posterior extension osteotomies with circumferential spine fusion, and posterior vertebral column resection with circumferential spine fusion. She was advised that multiple posterior extension osteotomies would likely be insufficient to restore sagittal balance in the setting of solid arthrodesis from anterior and posterior surgery, and that the posterior-only vertebral column resection would provide results equivalent to revision anterior and posterior surgery, without the morbidity of the anterior approach. She successfully underwent posterior vertebrectomy and circumferential spinal fusion with instrumentation and is doing well 2 years postoperatively. Severe rigid sagittal deformity can be effectively managed with a posterior-only surgical approach, vertebrectomy, and circumferential spinal fusion with instrumentation. PMID:18751773

  7. VACTERL association: a new case with biotinidase deficiency and annular pancreas.

    PubMed

    Sezer, Rabia Gonul; Aydemir, Gökhan; Bozaykut, Abdulkadir; Paketci, Cem; Aydinoz, Secil

    2012-01-01

    VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported. PMID:22010814

  8. Sonic Hedgehog Signaling and VACTERL Association

    PubMed Central

    Ngan, E.S.-W.; Kim, K.-H.; Hui, C.-c.

    2013-01-01

    Hedgehog (Hh) signaling is vital for the patterning and organogenesis of almost every system. The specificity of these developmental processes is achieved through a tight spatio-temporal regulation of Hh signaling. Mice with defective Hh signal exhibit a wide spectrum of anomalies, including Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheoesophageal fistula, Renal dysplasia, and Limb defects, that resemble strikingly the phenotypes observed in VACTERL association in humans. In this review, we summarize our current understanding of mammalian Hh signaling and highlight the relevance of various mouse models for studying the etiology and pathogenesis of VACTERL association. In addition, recent advances in genetic study for unraveling the complexity of genetic inheritance of VACTERL and the implication of the Sonic hedgehog pathway in disease pathogenesis are also discussed. PMID:23653575

  9. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  10. Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study

    PubMed Central

    Aslanabadi, Saeid; Ghabili, Kamyar; Rouzrokh, Mohsen; Hosseini, Mohammad Bagher; Jamshidi, Masoud; Adl, Farzad Hami; Shoja, Mohammadali M

    2011-01-01

    Background: Predicting the presence of long-gap esophageal atresia (EA) prior to the surgery is of clinical importance. No comparison between short-gap and long-gap EA for the prevalence of VACTERL and non-VACTERL-type anomalies has yet been performed. Objective: The aim of this study was to compare VACTERL and non-VACTERL-type anomalies between patients with short-gap and long-gap EA. Methods: Retrospectively, medical records of all newborns managed for EA/tracheoesophageal fistula (TEF) in Tabriz Children’s Hospital and Tehran Mofid Hospital between 2007 and 2010 were evaluated. Demographic data and associated anomalies including both the VACTERL and non-VACTERL-type defects were listed. The VACTERL spectrum defects covered vertebral/costal, anorectal, cardiovascular, TEF, and renal- or radial-type limb anomalies. The non-VACTERL-type anomalies included hydrocephalus, orofacial defects, respiratory system anomalies, gastrointestinal anomalies, genital anomalies, and non-VACTERL limb defects. Demographic data, and the VACTERL and non-VACTERL-type anomalies were compared among children with long-gap EA and those with short-gap EA. Results: Two hundred and seventy-six children were included in the study: 230 (83.3%) in the short-gap EA group and 46 (16.7%) in the long-gap EA group. Although prevalence of the VACTERL spectrum anomalies did not differ between the two groups, the non-VACTERL anomaly was more common in the long-gap EA group (P = 0.02). Among the VACTERL-type defects, TEF was detected in 30 (65.2%) and 218 (94.7%) patients in long-gap and short-gap EA groups, respectively (P = 0.0001). Conclusion: The non-VACTERL-type anomalies, but not the VACTERL spectrum defects, are more frequent in patients with long-gap EA than those with short-gap EA. PMID:21760750

  11. Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

    PubMed

    Alter, Blanche P; Giri, Neelam

    2016-06-01

    VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound). Eighteen of the fifty-four patients had three or more VACTERL-H features. The presence of VACTERL-H association in 33% of those with FA is much higher than the previous estimate of 5% (P < 0.0001). We created the acronym PHENOS (Pigmentation, small Head, small Eyes, central Nervous system (not hydrocephalus), Otology, and Short stature) which includes all major phenotypic features of FA that are not in VACTERL-H; these findings were more frequent in the patients with FA who had VACTERL-H. Identification of any components of the VACTERL-H association should lead to imaging studies, and to consideration of the diagnosis of FA, particularly if the patient has radial ray and renal anomalies, as well as many features of PHENOS. There was no association of the presence or absence of VACTERL-H with development of cancer, stem cell transplant, or survival. Early diagnosis will lead to genetic counseling and early surveillance and management of complications of FA. © 2016 Wiley Periodicals, Inc. PMID:27028275

  12. Anaesthetic Management for Cataract Surgery in VACTERL Syndrome Case Report

    PubMed Central

    Khatavkar, Sonal S; Jagtap, S R

    2009-01-01

    Summary Eight year old girl, weighing 14 kg with VACTERL syndrome V: Vertebral anomalies, A: Anal malformation, C: Cardiovascular defect, TE: Tracheal and esophageal malformation, R: Renal agenesis, L: Limb anomalies. underwent cataract surgery under general anaesthesia. She had multiple congenital anomalies like esophageal atresia, imperforate anus (corrected), single kidney & radial aplasia. Anticipating problems of gastro-esophageal reflux & chronic renal failure, successful management was done. PMID:20640087

  13. Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

    PubMed Central

    Winberg, Johanna; Gustavsson, Peter; Papadogiannakis, Nikos; Sahlin, Ellika; Bradley, Frideborg; Nordenskjöld, Edvard; Svensson, Pär-Johan; Annerén, Göran; Iwarsson, Erik; Nordgren, Ann; Nordenskjöld, Agneta

    2014-01-01

    In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples from 20 patients diagnosed with VACTERL or with a VACTERL-like phenotype as well as samples from 19 aborted fetal cases with VACTERL. To investigate the importance of gene dose alterations in the genetic etiology of VACTERL association we have performed a systematic analysis of this cohort using a 180K array comparative genomic hybridization (array-CGH) platform. In addition, to further clarify the significance of PCSK5, HOXD13 and CHD7 genes in the VACTERL phenotype, mutation screening has been performed. We identified pathogenic gene dose imbalances in two fetal cases; a hemizygous deletion of the FANCB gene and a (9;18)(p24;q12) unbalanced translocation. In addition, one pathogenic mutation in CHD7 was detected, while no apparent disease-causing mutations were found in HOXD13 or PCSK5. Our study shows that although large gene dose alterations do not seem to be a common cause in VACTERL association, array-CGH is still important in clinical diagnostics to identify disease cause in individual cases. PMID:24416387

  14. Is Duane retraction syndrome part of the VACTERL association?

    PubMed Central

    Akar, Serpil; Gokyigit, Birsen; Kavadarli, Isilay; Demirok, Ahmet

    2013-01-01

    We report here a patient with type 1 Duane’s retraction syndrome and multiple congenital abnormalities as a result of the VACTERL association. The presented combination of Duane’s retraction syndrome and the VACTERL association has not been reported in the literature. The present case was instructive for reviewing the continuous spectrum of ocular anomalies that accompany the VACTERL association. PMID:23658476

  15. Kidney transplantation in an adult patient with VACTERL association.

    PubMed

    Cimen, Sertac; Nantais, Jordan; Guler, Sanem; Lawen, Joseph

    2015-01-01

    The vertebral, anal, cardiac, tracheoesophageal, renal, and limb birth defects (VACTERL) association is a rare, non-random constellation of congenital abnormalities among which urinary tract anomalies can be included. In the presence of these anomalies, patients are suspected to have a higher rate of renal failure than average. We report a case of a 22-year-old woman with VACTERL association and consequent end stage renal failure. A live-related kidney transplant was carried out successfully and the postoperative course was uncomplicated. The patient had immediate graft function. Risk factors that may complicate kidney transplant surgery in this patient population as well as considerations relevant to peritransplant management are discussed. PMID:26106170

  16. Functional independence of Taiwanese children with VACTERL association.

    PubMed

    Lin, Hsin-Yi; Lin, Shuan-Pei; Lin, Hsiang-Yu; Hsu, Chyong-Hsin; Chang, Jui-Hsing; Kao, Hsin-An; Hung, Han-Yang; Peng, Chun-Chih; Lee, Hung-Chang; Chen, Ming-Ren; Tsai, Jeng-Daw

    2012-12-01

    VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic information to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P < 0.01). The scores were generally within the same range as those of unaffected Chinese children, although our subjects had slightly inferior scores on six items, including bowel, chair transfer, stairs, expression, social interaction, and problem solving. In conclusion, the daily functional skills of Taiwanese children with VACTERL association were similar to those of unaffected children. PMID:23165933

  17. Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association

    PubMed Central

    Agochukwu, Nneamaka B.; Pineda-Alvarez, Daniel E.; Keaton, Amelia A.; Warren-Mora, Nicole; Raam, Manu S.; Kamat, Aparna; Chandrasekharappa, Settara C.; Solomon, Benjamin D.

    2011-01-01

    VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 – 35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority of patients, there is evidence that it is causally heterogeneous. Several studies have shown evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with component features of VACTERL and a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), were found to harbor deletions or mutations affecting FOXF1 and the FOX gene cluster on chromosome 16q24. We investigated this gene through direct sequencing and high-density SNP microarray in 12 patients with VACTERL association but without ACD/MPV. Our mutational analysis of FOXF1 showed normal sequences and no genomic imbalances affecting the FOX gene cluster on chromosome 16q24 in the studied patients. Possible explanations for these results include the etiologic and clinical heterogeneity of VACTERL association, the possibility that mutations affecting this gene may occur only in more severely affected individuals, and insufficient study sample size. PMID:21315191

  18. Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.

    PubMed

    Agochukwu, Nneamaka B; Pineda-Alvarez, Daniel E; Keaton, Amelia A; Warren-Mora, Nicole; Raam, Manu S; Kamat, Aparna; Chandrasekharappa, Settara C; Solomon, Benjamin D

    2011-01-01

    VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 -35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority of patients, there is evidence that it is causally heterogeneous. Several studies have shown evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with component features of VACTERL and a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), were found to harbor deletions or mutations affecting FOXF1 and the FOX gene cluster on chromosome 16q24. We investigated this gene through direct sequencing and high-density SNP microarray in 12 patients with VACTERL association but without ACD/MPV. Our mutational analysis of FOXF1 showed normal sequences and no genomic imbalances affecting the FOX gene cluster on chromosome 16q24 in the studied patients. Possible explanations for these results include the etiologic and clinical heterogeneity of VACTERL association, the possibility that mutations affecting this gene may occur only in more severely affected individuals, and insufficient study sample size. PMID:21315191

  19. Considering the Embryopathogenesis of VACTERL Association

    PubMed Central

    Stevenson, R.E.; Hunter, A.G.W.

    2013-01-01

    The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single genes have been found in a number of syndromes with one or more of the VACTERL malformations, but these syndromes usually have other features which distinguish them from the VACTERL association. Animal models have provided clues to molecular pathways that may be involved in the embryogenesis of the VACTERL structures. What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies. PMID:23653571

  20. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

    PubMed

    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  1. TACRD and VACTERL associations in a fetus: case report and review of the literature.

    PubMed

    Xu, Gan-qiong; Zhou, Qi-chang; Zhang, Ming; Pu, Da-rong; Ouyang, Zhu

    2013-12-01

    Tracheal agenesis is a rare and potentially lethal congenital anomaly. The incidence is less than 1/50,000, with a male:female ratio of 2:1. We report the case of a male fetus with complete agenesis of the trachea and a tracheoesophageal fistula arising from the esophagus that connected through the carina, as well as several abnormalities (congenital cardiac abnormalities, duodenal atresia, vertebral defects, anal atresia, renal defects, limb defects, and diaphragmatic hernia). To our knowledge, few cases of infants with VACTERL or TACRD association have been reported to date. Here, we report a new case of a fetus that showed the full range of VACTERL and TACRD associations. PMID:24113157

  2. Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

    PubMed

    Takci, S; Yigit, S; Haliloglu, M; Boduroglu, K; Kiper, N

    2013-01-01

    Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome. PMID:24341150

  3. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

    SciTech Connect

    Rossbach, H.C.; Granan, N.H.; Rossi, A.R.; Barbosa, J.L.

    1996-01-02

    Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.

  4. Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.

    PubMed

    Gurung, Nirmala; Grosse, Greta; Draaken, Markus; Hilger, Alina C; Nauman, Nuzhat; Müller, Andreas; Gembruch, Ulrich; Merz, Waltraut M; Reutter, Heiko; Ludwig, Michael

    2015-07-01

    Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expression of murine Ptf1a, which encodes pancreas-specific transcription factor 1A, due to the insertion of a retrotansposon in its 5' regulatory domain. In order to investigate the possible involvement of this gene in human VATER/VACTERL association and human neural tube defects (NTDs), a sequence analysis was performed. DNA samples from 103 patients with VATER/VACTERL and VATER/VACTERL‑like association, all presenting with anorectal malformations, and 72 fetuses with NTDs, where termination of pregnancy had been performed, were included in the current study. The complete PTF1A coding region, splice sites and 1.5 kb of the 5' flanking promotor region was sequenced. However, no pathogenic alterations were detected. The results of the present study do not support the hypothesis that high penetrant mutations in these regions of PTF1A are involved in the development of human VATER/VACTERL association or NTDs, although rare mutations may be detectable in larger patient samples. PMID:25775927

  5. VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

    PubMed Central

    Bartels, Enrika; Schulz, Anna C.; Mora, Nicole W.; Pineda-Alvarez, Daniel E.; Wijers, Charlotte H. W.; Marcelis, Carlo M.; Stressig, Rüdiger; Ritgen, Jochen; Schmiedeke, Eberhard; Mattheisen, Manuel; Draaken, Markus; Hoffmann, Per; Hilger, Alina C.; Dworschak, Gabriel C.; Baudisch, Friederike; Ludwig, Michael; Bagci, Soyhan; Müller, Andreas; Gembruch, Ulrich; Geipel, Annegret; Berg, Christoph; Bartmann, Peter; Nöthen, Markus M.; van Rooij, Iris A.L.M.; Solomon, Benjamin D.; Reutter, Heiko M.

    2014-01-01

    The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4–42%] for MZ and 18% (95% CI 5–48%) for DZ twin pairs (P = 0.53). The probandwise concordance rates were 27% (95% CI 11–52%) for MZ and 31% (95% CI 13–58%) for DZ twin pairs (P= 0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited. PMID:22895008

  6. VACTERL with the mitochondrial np 3243 point mutation.

    PubMed

    Damian, M S; Seibel, P; Schachenmayr, W; Reichmann, H; Dorndorf, W

    1996-04-24

    The VACTERL association of vertebral, anal, cardiovascular, tracheo-esophageal, renal, and limb defects is one of the more common congenital disorders with limb deficiency arising during blastogenesis. The cause is probably heterogeneous; a molecular basis has not yet been defined. We report on a family in which a female infant with VACTERL was born in 1977 and died at age 1 month due to renal failure. Because her mother and sister later developed classical mitochondrial cytopathy associated with the A-G point mutation at nucleotide position (np) 3243 of mitochondrial (mt) DNA, we performed a molecular analysis of mt DNA in preserved kidney tissue from the VACTERL case. We discovered 100% mutant mt DNA in multicystic and 32% mutant mt DNA in normal kidney tissue. Mild deficiency of complex I respiratory chain enzyme activity was found in the mother's muscle biopsy. Other maternal relatives were healthy but had low levels of mutant mt DNA in blood. This is the first report to provide a precise molecular basis for a case of VACTERL. The differing tissue pathology depending on the percentage of mutant mt DNA suggests a causal connection between the mutation and symptoms. VACTERL, and this type of multicystic renal dysplasia, are new phenotypes for the np 3243 point mutation. The possibility of a mitochondrial disorder should be born in mind and also that VACTERL may occur as a first manifestation of a mutation that has been present for generations. This would have major implications for patient management and for genetic counselling regarding both the risk of recurrence and risk of other mitochondrial syndromes in affected families. PMID:8723071

  7. VACTERL with the mitochondrial NP 3243 point mutation

    SciTech Connect

    Damian, M.S.; Dorndorf, W.; Schachenmayr, W.; Seibel, P.; Reichmann, H.

    1996-04-24

    The VACTERL association of vertebral, anal, cardiovascular, tracheo-esophageal, renal, and limb defects is one of the more common congenital disorders with limb deficiency arising during blastogenesis. The cause is probably heterogeneous; a molecular basis has not been defined. We report on a family in which a female infant with VACTERL was born in 1977 and died at age 1 month due to renal failure. Because her mother and sister later developed classical mitochondrial cytopathy associated with the A-G point mutation at nucleotide position (np) 3243 of mitochondrial (mt) DNA, we performed a molecular analysis of mt DNA in preserved kidney tissue from the VACTERL case. We discovered 100% mutant mt DNA in multicystic and 32% mutant mt DNA in normal kidney tissue. Mild deficiency of complex I respiratory chain enzyme activity was found in the mother`s muscle biopsy. Other maternal relatives were healthy but had low levels of mutant mt DNA in blood. This is the first report to provide a precise molecular basis for a case of VACTERL. The differing tissue pathology depending on the percentage of mutant mt DNA suggests a causal connection between the mutation and symptoms. VACTERL, and this type of multicystic renal dysplasia, are new phenotypes for the np 3243 point mutation. The possibility of a mitochondrial disorder should be born in mind and also that VACTERL may occur as a first manifestation of a mutation that has been present for generations. This would have major implications for patient management and for genetic counselling regarding both the risk of recurrence and risk of other mitochondrial syndromes in affected families. 19 refs., 3 figs., 1 tab.

  8. Cranio-vertebral junction anomaly: atlanto-occipital assimilation.

    PubMed

    Pooja Jain, -; Khursheed Raza, -; Chiman Kumari, -; Manisha Hansda, -; Sb Ray, -

    2016-01-01

    Cranio-vertebral junction is a pivot which holds the globe of the head. Bony anomalies at this point are particularly significant because they lodge the spinal cord and lower part of the brain stem. Clinically fusion of the atlas with the lower part of the occiput is known as Atlanto-occipital assimilation or atlas occipitalization, which can be either partial or complete depending upon the extent of fusion. It can present as totally asymptomatic accidental finding or can be a cause behind major neuro-vascular compression. The present case study is an endeavor to explain occipitalization of atlas bone on the basis of embryology and explain its clinical relevance. PMID:27424507

  9. Vertebral anomaly in fossil sea cows (Mammalia, Sirenia).

    PubMed

    Voss, Manja; Asbach, Patrick; Hilger, André

    2011-06-01

    Four incompletely preserved caudal vertebrae lacking the neural arches of two fossil sirenian individuals of Halitherium schinzii (Oligocene) from the Rhine area in Germany and northern Belgium reveal osteological alterations. The caudal vertebrae possess a transverse process with growth retardation. This asymmetry indicates that the affected transverse processes are less developed than their counterparts and, consequently, deviate from the norm. Computed tomography (CT) scans reveal osteosclerotic patterns, a morphological feature that characterizes sea cows and supports the nonpathological state of the vertebrae. Additionally, no indications of vertebral fractures or any other occurrences due to external factors are present. This is the oldest documentation of such an anomaly in any sirenian and is interpreted here as hypoplasia, the underdevelopment of an organ or parts of it that might cause a functional deficiency. PMID:21538937

  10. Urorectal septum malformation sequence in a newborn with VACTERL association.

    PubMed

    Patra, Soumya; Purkait, Radheshyam

    2012-02-01

    Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

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

    PubMed

    Weir, Caroline R; Wang, John Y

    2016-08-01

    Conspicuous vertebral column abnormalities in humpback dolphins (genus Sousa) were documented for the first time during 3 photo-identification field studies of small populations in Taiwan, Senegal and Angola. Seven Taiwanese humpback dolphins S. chinensis taiwanensis with vertebral column anomalies (lordosis, kyphosis or scoliosis) were identified, along with 2 possible cases of vertebral osteomyelitis. There was evidence from several individuals photographed over consecutive years that the anomalies became more pronounced with age. Three Atlantic humpback dolphins S. teuszii were observed with axial deviations of the vertebral column (lordosis and kyphosis). Another possible case was identified in a calf, and 2 further animals were photographed with dorsal indents potentially indicative of anomalies. Vertebral column anomalies of humpback dolphins were predominantly evident in the lumbo-caudal region, but one Atlantic humpback dolphin had an anomaly in the cervico-thoracic region. Lordosis and kyphosis occurred simultaneously in several individuals. Apart from the described anomalies, all dolphins appeared in good health and were not obviously underweight or noticeably compromised in swim speed. This study presents the first descriptions of vertebral column anomalies in the genus Sousa. The causative factors for the anomalies were unknown in every case and are potentially diverse. Whether these anomalies result in reduced fitness of individuals or populations merits attention, as both the Taiwanese and Atlantic humpback dolphin are species of high conservation concern. PMID:27503913

  12. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies

    PubMed Central

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-01-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

  13. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies.

    PubMed

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-12-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

  14. Vertebral and Intraspinal Anomalies in Indian Population with Congenital Scoliosis: A Study of 119 Consecutive Patients

    PubMed Central

    S, Rajasekaran; G, Balamurali; Shetty, Ajoy

    2016-01-01

    Study Design Retrospective case study by clinical and radiological data analysis. Purpose To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. Overview of Literature This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this series is 47% which is higher than previous literature. Hemivertebra was the most common anomaly as seen in previous studies. Methods A total of 119 patients with congenital scoliosis who underwent surgery between December 2006 and December 2012 were studied. Data was reviewed with medical records, plain radiographs, and magnetic resonance imaging (MRI) scans. Results Thoracolumbar curve was most common, seen in 43.6% of patients. In addition to scoliotic deformity, kyphosis was seen in 26% of patients. Failure of formation, the most common vertebral anomaly, was seen in 51.2% of patients, failure of segmentation was seen in 19.3% of patients, and there were 29.4% patients having both formation and segmentation anomalies. Hemivertebra was the most common vertebral anomaly seen in 66.3% of patients and for whom 63.2% were in thoracic spine. Intraspinal anomalies were associated with 47% of patients with congenital scoliosis. Tethered cord was the most common intraspinal abnormality and was found in 48.2% patients with intraspinal anomalies. The patients with failure of segmentation and mixed deformities were found to have a significantly higher incidence of intraspinal anomalies (65% and 57%, respectively) than those with failure of formation (34%). Out of 31 patients with kyphotic deformity 29% had intraspinal anomalies, and amongst them tethered cord was the most common anomaly seen in 66% patients. Out of 12 patients with neurocutaneous markers, 83% patients had intraspinal anomaly. Conclusions Intraspinal anomalies were seen in 47% of patients with congenital scoliosis in the

  15. Vertebral artery anomaly causing C2 suboccipital neuralgia, relieved by neurovascular decompression.

    PubMed

    Trimble, Christopher; Reeves, Alexa; Pare, Laura; Tsai, Fong

    2013-07-01

    We report imaging and surgical findings of a symptomatic 40-year-old male with an anomalous left vertebral artery. MR, CT myelography, angiography, and intraoperative photos demonstrate the vertebral artery entering the thecal sac at the C1-C2 intervertebral foramen and compressing the dorsal C2 nerve rootlets against the cord. Open microvascular decompression alleviated the patient's long-standing suboccipital and posterior cervical neck pain. An embryologic review of the vertebral and lateral spinal artery systems reveals possible developmental explanations for this variant. Intradural course of the vertebral artery at C2 is one of the few symptomatic developmental vertebral artery anomalies. Recognition of this condition is important because surgical intervention can alleviate associated neck pain. PMID:21682793

  16. VACTERL with hydrocephalus: family with X-linked VACTERL-H.

    PubMed

    Lomas, F E; Dahlstrom, J E; Ford, J H

    1998-02-26

    We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac abnormalities (1/3). X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. In addition, one maternal female cousin had a severe tracheo-esophageal fistula. This may represent partial manifestation in a female carrier. Chromosomes were apparently normal (46XY) with no spontaneous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in utero detection of this syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined. PMID:9508070

  17. Vertebral artery anomalies at the craniovertebral junction: a case report and review of the literature.

    PubMed

    Abtahi, Amir M; Brodke, Darrel S; Lawrence, Brandon D

    2014-10-01

    Study Design Case report. Objective The objective of this study was to report a case of an unstable C1 burst fracture in the setting of a vertebral artery anomaly at the craniovertebral junction. Methods A 55-year-old man was admitted to the hospital with severe neck pain after falling approximately 15 feet and landing on his head. Computed tomography scan of the cervical spine revealed an unstable fracture of the C1 ring with magnetic resonance imaging evidence of a transverse ligament rupture as well as a congenital synchondrosis of the posterior arch of C1. He was neurologically intact. CT angiography (CTA) of the neck revealed an anomalous course of the right vertebral artery at the C1-C2 level. Results Surgical intervention consisted of occiput-C3 fusion, thus avoiding the placement of C1 lateral mass screws and risking vertebral artery injury. Conclusion We present a case of an unstable C1 burst fracture with an anomalous course of the right vertebral artery demonstrated by CTA. The presence of vertebral artery anomalies at the craniovertebral junction may prevent safe placement of C1 lateral mass screws and therefore influence the treatment options for upper cervical spine pathologies. To minimize the risk of vertebral artery injury, we elected to perform an occiput to C3 fusion. Thorough assessment of the vascular anatomy is recommended before operative intervention in the upper cervical spine to minimize the risk of complications. PMID:25364325

  18. Torticollis manifest after a minor fall with underlying bony anomalies and a hypoplastic vertebral artery.

    PubMed

    Samdani, Amer F; Williams, Reed Conly; Danish, Shabbar; Betz, Randal

    2009-09-01

    The etiologies of torticollis are numerous. We describe a unique patient who presented with torticollis with head tilting to the right after sustaining a minor fall. Computed tomography scan with two and three-dimensional reconstructions revealed an underlying hypoplasia of the right lateral mass of C1 and occipital condyle. Further study with MRI/magnetic resonance angiography showed hypoplasia of the right vertebral artery with compensatory dilatation of the left vertebral artery. We postulate these underlying anomalies predisposed the patient to torticollis, which became apparent after his fall. We discuss the surgical options available, and the rationale for a single C1-C2 transarticular screw with iliac crest bone graft and cable. In the literature, there are four reported cases of vascular anomalies resulting in torticollis. Our patient is the first, to our knowledge, who harbored both bony and vascular anomalies. PMID:19550358

  19. The early origin of vertebral anomalies, as illustrated by a 'butterfly vertebra'.

    PubMed Central

    Müller, F; O'Rahilly, R; Benson, D R

    1986-01-01

    An anomalous (butterfly) eleventh thoracic vertebra in a fetus of 63 mm greatest length is described and graphic reconstructions (together with normal controls) are provided. The cartilaginous hemicentra are separated by disc-like material. Cartilaginous bars to adjacent vertebrae are present. The neural arch is complete. The notochord is not duplicated. Only one comparable case in the embryonic period has been described previously. After a discussion of cleft vertebrae in the human and in experimental animals, a developmental timetable of the appearance of several vertebral anomalies is provided. The sensitive period for butterfly vertebrae, depending on the mode of origin, seems to be 3-6 postovulatory weeks. More severe anomalies, such as the split notochord syndrome, appear earlier. It is concluded that most of the vertebral anomalies discussed arise during the embryonic period proper, although the timing of a few, such as spina bifida occulta, extends into the early fetal period. Images Fig. 1 Fig. 3 Fig. 5 PMID:3693103

  20. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

    PubMed

    Al-Kateb, Hussam; Khanna, Geetika; Filges, Isabel; Hauser, Natalie; Grange, Dorothy K; Shen, Joseph; Smyser, Christopher D; Kulkarni, Shashikant; Shinawi, Marwan

    2014-05-01

    The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555 kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement. PMID:24458548

  1. Skeletal morphogenesis of the vertebral column of the miniature hylid frog Acris crepitans, with comments on anomalies.

    PubMed

    Pugener, L Analía; Maglia, Anne M

    2009-01-01

    Although the vertebral columns of anurans have received much study in the last 150 years, few detailed descriptions exist of the skeletal morphogenesis of this anatomical unit. Herein, the ontogeny of the vertebral skeleton of the hylid frog Acris crepitans is described based on cleared and double-stained specimens, radiographs, and 3D reconstructions generated from synchrotron microCT scans. The adult axial formula is 1-7-1-1, and the vertebral centra are epichordal and procoelous. The neural arches are nonimbricate, and there is a medial articulation between the laminae of Presacrals I and II. Free ribs are absent. The sacral diapophyses are uniform in width or slightly expanded distally. The urostyle is slender, round in cross section, and about equal in length to the presacral region. Presacral vertebrae are the first to form, developing in a cephalic-to-caudal sequence. However, development and growth are decoupled and growth is fastest initially in the posterior presacrals and sacrum. In addition, there is a time lag between the formation of the presacral/sacral region and the postsacral region. More than 8.5% of the specimens examined have vertebral anomalies, and about 50% display small variants from the typical vertebral column morphology. However, these malformations do not seem to have been so severe as to have affected survival. PMID:18946872

  2. Anomalies.

    ERIC Educational Resources Information Center

    Online-Offline, 1999

    1999-01-01

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

  3. It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL

    PubMed Central

    Awad, Karim; Lall, Anupam

    2016-01-01

    Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported in 1993 and so far the majority have either been stillbirths or died shortly after birth. We present a case of Prune belly syndrome associated with VACTERL who is now one year old. PMID:27433451

  4. Complex aortic arch anomaly: Right aortic arch with aberrant left subclavian artery, fenestrated proximal right and duplicated proximal left vertebral arteries—CT angiography findings and review of the literature

    PubMed Central

    Tong, Elizabeth; Hagspiel, Klaus D

    2015-01-01

    Congenital aortic arch and vertebral artery anomalies are a relatively rare finding discovered on imaging either incidentally or for evaluation of entities like dysphagia or subclavian steal. Right aortic arch is an uncommon anatomical anomaly that occurs in less than 0.1% of the population, and in half of these cases the left subclavian artery is also aberrant.1 Unilateral vertebral artery (VA) duplication is rare with an observed prevalence of 0.72% in cadavers.2 Fenestration of the VA is more common than duplication, with a prevalence of approximately 0.23%–1.95%.3,4 We describe the case of a 25-year-old female who was found to have a right aortic arch with aberrant left subclavian artery, duplicated left vertebral artery and a fenestrated right vertebral artery on CT angiography performed for evaluation of dysphagia. This combination of findings has not been reported before, to the best of our knowledge. We review the embryologic mechanism for the development of the normal aortic arch, right aortic arch, vertebral artery duplication and vertebral artery fenestration. The incidence of these entities, resultant symptoms and clinical implications are also reviewed. The increased associated incidence of aneurysm formation, dissection, arteriovenous malformations and thromboembolic events with fenestration is also discussed. PMID:26306929

  5. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

    PubMed Central

    Szumska, Dorota; Pieles, Guido; Essalmani, Rachid; Bilski, Michal; Mesnard, Daniel; Kaur, Kulvinder; Franklyn, Angela; El Omari, Kamel; Jefferis, Joanna; Bentham, Jamie; Taylor, Jennifer M.; Schneider, Jurgen E.; Arnold, Sebastian J.; Johnson, Paul; Tymowska-Lalanne, Zuzanna; Stammers, Dave; Clarke, Kieran; Neubauer, Stefan; Morris, Andrew; Brown, Steve D.; Shaw-Smith, Charles; Cama, Armando; Capra, Valeria; Ragoussis, Jiannis; Constam, Daniel; Seidah, Nabil G.; Prat, Annik; Bhattacharya, Shoumo

    2008-01-01

    We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5Vcc/null) completely recapitulate the Pcsk5Vcc/Vcc phenotype, as does an epiblast-specific conditional deletion of Pcsk5. The C470R mutation ablates a disulfide bond in the P domain, and blocks export from the endoplasmic reticulum and proprotein convertase activity. We show that GDF11 is cleaved and activated by PCSK5A, but not by PCSK5A-C470R, and that Gdf11-deficient embryos, in addition to having anteroposterior patterning defects and renal and palatal agenesis, also have a presacral mass, anorectal malformation, and exomphalos. Pcsk5 mutation results in abnormal expression of several paralogous Hox genes (Hoxa, Hoxc, and Hoxd), and of Mnx1 (Hlxb9). These include known Gdf11 targets, and are necessary for caudal embryo development. We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development. PMID:18519639

  6. [Kimmerle's anomaly and stroke].

    PubMed

    Barsukov, S F; Antonov, G I

    1992-10-01

    The anomaly of cranio-vertebral area can frequently be the reason of acute cerebrovascular disorders in vertebro-basilar field. The frequent C1 pathology in the Kimmerle's anomaly. The anatomic studies has shown that 30% of people had this type of anomaly. This pathology can lead to severe vascular diseases of cerebrum because of the squeezing effect upon vertebral arteries in the zone of osteal ponticulus of the rear arch of atlas. PMID:1481402

  7. Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association.

    PubMed

    Jain, Dhanpat; Martel, Maritza; Reyes-Múgica, Miguel; Parkash, Vinita

    2002-01-01

    Heterotopic renal tissue (HRT) in the wall of the colon is a very rare occurrence, with only five cases published. Our patient is only the second patient reported to have this abnormality in the absence of sirenomelia. We describe colonic HRT in a child, associated with multiple congenital anomalies. The congenital abnormalities were of the VACTERL type, accompanied by valvular cardiac anomalies that were clinically diagnosed as Shone syndrome. The HRT was not apparent clinically or grossly. Microscopically, multifocal islands of renal tissue consisting of glomeruli, cystically dilated tubules, and blastema were seen in all layers of the bowel, and simulated "cystic partially differentiated nephroblastoma." Our case provides further support to the belief that VACTERL association and sirenomelia represent related entities. PMID:12375130

  8. Vertebral Morphometry.

    PubMed

    Chou, Sharon H; Vokes, Tamara

    2016-01-01

    There is as yet no agreement about the criteria by which to arrive at an imaging diagnosis of a vertebral fracture. Because high-grade fractures result in alterations in vertebral shape, 1 possible avenue of diagnosis has been to quantitate changes in vertebral shape. The result has been a variety of methods for the relative and absolute measurements of vertebral dimensions. Such measurements have also lent themselves to automated computed analysis. The number of techniques reflects the absence of any consensus about the best. The semiquantitative technique proposed by Genant has become the most widely used and has served the field well for comparative purposes. Its use in higher grade fractures has been widely endorsed, if some concepts (e.g., short vertebral height-vertebrae) are at variance with lower grades of fracturing. Vertebral morphometry may be the only recourse in high volume epidemiological and interventional studies. PMID:26349790

  9. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    PubMed Central

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  10. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

    PubMed

    Rodriguez, Maria M

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  11. Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

    PubMed

    Brosens, Erwin; Ploeg, Mirjam; van Bever, Yolande; Koopmans, Anna E; IJsselstijn, Hanneke; Rottier, Robbert J; Wijnen, Rene; Tibboel, Dick; de Klein, Annelies

    2014-08-01

    Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and around the world has been relatively stable. EA/TEF is manifested in a broad spectrum of anomalies: in some patients it manifests as an isolated atresia or fistula, but in over half it affects several organ systems. While the associated malformations are often those of the VACTERL spectrum (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal and Limb), many patients are affected by other malformations, such as microcephaly, micrognathia, pyloric stenosis, duodenal atresia, a single umbilical artery, and anomalies of the genitourinary, respiratory and gastrointestinal systems. Though EA/TEF is a genetically heterogeneous condition, recurrent genes and loci are sometimes affected. Tracheo-Esophageal (TE) defects are in fact a variable feature in several known single gene disorders and in patients with specific recurrent Copy Number Variations and structural chromosomal aberrations. At present, a causal genetic aberration can be identified in 11-12% of patients. In most, EA/TEF is a sporadic finding; the familial recurrence rate is low (1%). As this suggests that epigenetic and environmental factors also contribute to the disease, non-syndromic EA/TEF is generally believed to be a multifactorial condition. Several population-based studies and case reports describe a wide range of associated risks, including age, diabetes, drug use, herbicides, smoking and fetal alcohol exposure. The phenotypical and genetic heterogeneity seen in EA/TEF patients indicates not one underlying cause, but several. Unraveling the complex multifactorial and heterogeneous etiology of EA/TEF and associated features will require large cohorts of patients. Combined statistical analysis of component findings, genome sequencing, and genome wide association studies will elucidate new causal genetic defects and

  12. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  13. Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association.

    PubMed

    Takawira, Farirai F; Omar, Fareed

    2013-04-01

    We report on a two-month-old infant with an unusual form of scimitar syndrome, associated with an absent right pulmonary artery, obstructed inferior vena cava, hemi-azygous continuation and the VACTERL association. The infant posed a major management problem and eventually died from a lower respiratory tract infection. PMID:23728126

  14. Vertebrate Reproduction.

    PubMed

    Kornbluth, Sally; Fissore, Rafael

    2015-10-01

    Vertebrate reproduction requires a myriad of precisely orchestrated events-in particular, the maternal production of oocytes, the paternal production of sperm, successful fertilization, and initiation of early embryonic cell divisions. These processes are governed by a host of signaling pathways. Protein kinase and phosphatase signaling pathways involving Mos, CDK1, RSK, and PP2A regulate meiosis during maturation of the oocyte. Steroid signals-specifically testosterone-regulate spermatogenesis, as does signaling by G-protein-coupled hormone receptors. Finally, calcium signaling is essential for both sperm motility and fertilization. Altogether, this signaling symphony ensures the production of viable offspring, offering a chance of genetic immortality. PMID:26430215

  15. Vertebrate skeletogenesis.

    PubMed

    Lefebvre, Véronique; Bhattaram, Pallavi

    2010-01-01

    Vertebrate skeletogenesis consists in elaborating an edifice of more than 200 pieces of bone and cartilage. Each skeletal piece is crafted at a distinct location in the body, is articulated with others, and reaches a specific size, shape, and tissue composition according to both species instructions and individual determinants. This complex, customized body frame fulfills multiple essential tasks. It confers morphological features, allows controlled postures and movements, protects vital organs, houses hematopoiesis, stores minerals, and adsorbs toxins. This review provides an overview of the multiple facets of this ingenious process for experts as well as nonexperts of skeletogenesis. We explain how the developing vertebrate uses both specific and ubiquitously expressed genes to generate multipotent mesenchymal cells, specify them to a skeletogenic fate, control their survival and proliferation, and direct their differentiation into cartilage, bone, and joint cells. We review milestone discoveries made toward uncovering the intricate networks of regulatory factors that are involved in these processes, with an emphasis on signaling pathways and transcription factors. We describe numerous skeletal malformation and degeneration diseases that occur in humans as a result of mutations in regulatory genes, and explain how these diseases both help and motivate us to further decipher skeletogenic processes. Upon discussing current knowledge and gaps in knowledge in the control of skeletogenesis, we highlight ultimate research goals and propose research priorities and approaches for future endeavors. PMID:20691853

  16. Pathology of cloaca anomalies with case correlation.

    PubMed

    Gupta, Anita; Bischoff, Andrea

    2016-04-01

    During the fourth week of human embryo development, a transient common channel known as a cloaca is formed from which three cavities with three external orifices arises. Cloaca anomalies occur when there is failure of separation of the rectum, vagina, and urethra channel resulting in a single drain into the perineum. In our previous institutional studies, Runck et al. compared human and mouse cloaca development and found early mis-patterning of the embryonic cloaca deranged hedgehog and bone morphogenetic proteins (BMP) signaling. Also, our group reported the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in 14 cloaca malformations in humans. In this review, we present the pathology of a 4-year-old female with a cloaca and VACTERL complex, and summarize our current knowledge of cloaca pathology. Furthermore, we suggest that careful pathological examination of cloaca specimens in conjunction with surgical orientation may result in a better understanding of the etiology of this condition. PMID:26969228

  17. Holonomy anomalies

    SciTech Connect

    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. (LEW)

  18. Bangui Anomaly

    NASA Technical Reports Server (NTRS)

    Taylor, Patrick T.

    2004-01-01

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

  19. DOWN'S ANOMALY.

    ERIC Educational Resources Information Center

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

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

  20. Testing Skills in Vertebrates

    ERIC Educational Resources Information Center

    Funk, Mildred Sears; Tosto, Pat

    2007-01-01

    In this article, the authors present a project that gives students examples of basic skills that many vertebrate species develop as they grow and function in their ecosystem. These activities involve information gathering about surroundings, learning how to use objects, and tracking and searching skills. Different vertebrate species may acquire…

  1. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

    PubMed Central

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Doray, Berenice; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Queisser-Luft, Annette; Scarano, Gioacchino; Tucker, David

    2014-01-01

    Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990–2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder. PMID:24398798

  2. Gauge anomalies, gravitational anomalies, and superstrings

    SciTech Connect

    Bardeen, W.A.

    1985-08-01

    The structure of gauge and gravitational anomalies will be reviewed. The impact of these anomalies on the construction, consistency, and application of the new superstring theories will be discussed. 25 refs.

  3. ANOMALY STRUCTURE OF SUPERGRAVITY AND ANOMALY CANCELLATION

    SciTech Connect

    Butter, Daniel; Gaillard, Mary K.

    2009-06-10

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

  4. The elliptic anomaly

    NASA Technical Reports Server (NTRS)

    Janin, G.; Bond, V. R.

    1980-01-01

    An independent variable different from the time for elliptic orbit integration is used. Such a time transformation provides an analytical step-size regulation along the orbit. An intermediate anomaly (an anomaly intermediate between the eccentric and the true anomaly) is suggested for optimum performances. A particular case of an intermediate anomaly (the elliptic anomaly) is defined, and its relation with the other anomalies is developed.

  5. [Vertebral hydatidosis: case report].

    PubMed

    Varela, R; Santelices, J P; Cuzmar, D; Aldunate, J T; Plaza-Guzmán, N; Lizama-Calvo, P

    2015-01-01

    Hydatidosis caused by echinococcus granulosus may affect any organ in the body, with the lungs and the liver as the most commonly affected organs. Vertebral compromise resulting from echinococcus granulosus has a low prevalence and accounts for less than 1% of bone compromise. We report the case of a 50 year-old female who presented at the Trauma Service with progressive low back pain with 5 months of duration that irradiated to the right lower limb, and led to neurologic compromise of the limb. Imaging studies showed spondylodiscitis at T12-L1, confirmed by a biopsy. Treatment of this condition is both orthopedic and surgical. The recurrence rate is high, between 30 and 40%. The objective of describing this case is to propose the differential diagnosis of a vertebral mass of unknown origin and provide details as to how to manage this condition. PMID:27012085

  6. Viruses of lower vertebrates.

    PubMed

    Essbauer, S; Ahne, W

    2001-08-01

    Viruses of lower vertebrates recently became a field of interest to the public due to increasing epizootics and economic losses of poikilothermic animals. These were reported worldwide from both wildlife and collections of aquatic poikilothermic animals. Several RNA and DNA viruses infecting fish, amphibians and reptiles have been studied intensively during the last 20 years. Many of these viruses induce diseases resulting in important economic losses of lower vertebrates, especially in fish aquaculture. In addition, some of the DNA viruses seem to be emerging pathogens involved in the worldwide decline in wildlife. Irido-, herpes- and polyomavirus infections may be involved in the reduction in the numbers of endangered amphibian and reptile species. In this context the knowledge of several important RNA viruses such as orthomyxo-, paramyxo-, rhabdo-, retro-, corona-, calici-, toga-, picorna-, noda-, reo- and birnaviruses, and DNA viruses such as parvo-, irido-, herpes-, adeno-, polyoma- and poxviruses, is described in this review. PMID:11550762

  7. Head segmentation in vertebrates

    PubMed Central

    Kuratani, Shigeru; Schilling, Thomas

    2008-01-01

    Classic theories of vertebrate head segmentation clearly exemplify the idealistic nature of comparative embryology prior to the 20th century. Comparative embryology aimed at recognizing the basic, primary structure that is shared by all vertebrates, either as an archetype or an ancestral developmental pattern. Modern evolutionary developmental (Evo-Devo) studies are also based on comparison, and therefore have a tendency to reduce complex embryonic anatomy into overly simplified patterns. Here again, a basic segmental plan for the head has been sought among chordates. We convened a symposium that brought together leading researchers dealing with this problem, in a number of different evolutionary and developmental contexts. Here we give an overview of the outcome and the status of the field in this modern era of Evo-Devo. We emphasize the fact that the head segmentation problem is not fully resolved, and we discuss new directions in the search for hints for a way out of this maze. PMID:20607135

  8. Aortic arch vessel anomalies associated with persistent trigeminal artery.

    PubMed

    Lotfi, Mehrzad; Nabavizadeh, Seyed Ali; Foroughi, Amin Abolhasani

    2012-01-01

    Developmental anomalies of the aortic arch vessels and persistent trigeminal artery that is the most common of the four anomalous carotid-basilar anastomoses are repeatedly reported in the literature as separate entities. Herein we report a previously undescribed variant including the coexistence of persistent trigeminal artery, truncus bicaroticus and direct origin of left vertebral artery from aortic arch. PMID:22542381

  9. Building the Vertebrate Spine

    NASA Astrophysics Data System (ADS)

    Pourquié, Olivier

    2008-03-01

    The vertebrate body can be subdivided along the antero-posterior (AP) axis into repeated structures called segments. This periodic pattern is established during embryogenesis by the somitogenesis process. Somites are generated in a rhythmic fashion from the paraxial mesoderm and subsequently differentiate to give rise to the vertebrae and skeletal muscles of the body. Somite formation involves an oscillator-the segmentation clock-whose periodic signal is converted into the periodic array of somite boundaries. This clock drives the dynamic expression of cyclic genes in the presomitic mesoderm and requires Notch and Wnt signaling. Microarray studies of the mouse presomitic mesoderm transcriptome reveal that the segmentation clock drives the periodic expression of a large network of cyclic genes involved in cell signaling. Mutually exclusive activation of the Notch/FGF and Wnt pathways during each cycle suggests that coordinated regulation of these three pathways underlies the clock oscillator. In humans, mutations in the genes associated to the function of this oscillator such as Dll3 or Lunatic Fringe result in abnormal segmentation of the vertebral column such as those seen in congenital scoliosis. Whereas the segmentation clock is thought to set the pace of vertebrate segmentation, the translation of this pulsation into the reiterated arrangement of segment boundaries along the AP axis involves dynamic gradients of FGF and Wnt signaling. The FGF signaling gradient is established based on an unusual mechanism involving mRNA decay which provides an efficient means to couple the spatio-temporal activation of segmentation to the posterior elongation of the embryo. Another striking aspect of somite production is the strict bilateral symmetry of the process. Retinoic acid was shown to control aspects of this coordination by buffering destabilizing effects from the embryonic left-right machinery. Defects in this embryonic program controlling vertebral symmetry might lead

  10. Lymphatic Anomalies Registry

    ClinicalTrials.gov

    2016-07-26

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

  11. Mechanotransduction During Vertebrate Neurulation.

    PubMed

    Sokol, Sergei Y

    2016-01-01

    Vertebrate neural tube formation is a complex morphogenetic process, which involves hundreds of genes dynamically coordinating various behaviors in different cell populations of neural tissue. The challenge remains to determine the relative contributions of physical forces and biochemical signaling events to neural tube closure and accompanying cell fate specification. Planar cell polarity (PCP) molecules are prime candidate factors for the production of actomyosin-dependent mechanical signals necessary for morphogenesis. Conversely, physical forces may contribute to the polarized distribution of PCP proteins. Understanding mechanosensory and mechanotransducing properties of diverse molecules should help define the direction and amplitude of physical stresses that are critical for neurulation. PMID:26969989

  12. Vertebral Angiosarcoma. Case Study.

    PubMed

    Guzik, Grzegorz

    2015-01-01

    Bone angiosarcomas, especially vertebral angiosarcomas, are very rare. There are no studies based on large clinical samples in the literature, and only a few single case reports can be found. The symptoms of the disease are not specific. It is usually detected incidentally or at a late stage when pathological vertebral fractures or neurological complications occur. Diagnostic imaging and history help to recognize the tumour behind the symptoms, but do not allow accurate clinical diagnosis. The basis for a diagnosis is the histopathological examination supported by immunohistochemistry (IHC) assays. The case of a 26-year-old woman with an angiosarcoma involving the eighth thoracic vertebra we report reflects diagnostic problems adversely affecting the efficacy and accuracy of treatment offered to patients. The patient underwent three surgeries of the spine, including two biopsies. A needle biopsy did not provide sufficient information for the diagnosis. An open excisional biopsy, which at the same time temporarily reduced neurological deficits in the patient, was the only chance to obtain an accurate diagnosis. The third surgery was posterior decompression of the spinal cord due to the rapidly escalating paraparesis. It was not until 8 weeks later that the final diagnosis was established. At that time, the patient could not be qualified for any supplementary treatment. The patient died in hospital 6 months after the onset of disease. PMID:26468177

  13. Analysis of spacecraft anomalies

    NASA Technical Reports Server (NTRS)

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

    1976-01-01

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

  14. Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association.

    PubMed

    Trowitzsch, Eckardt; Schneider, Martin; Urban, Andreas; Asfour, Boulos

    2006-06-01

    In a newborn with anal atresia and urethral valves an incomplete VACTERL association, was diagnosed and a colon anus praeter was placed. Sweating and heart murmur led to cardiac diagnostics. By 2D colour Doppler echocardiography a huge atrial septal defect and pulmonary venous stenoses were diagnosed. Additionally, a pulmonary sling combined with an aortopulmonary window (AoPAw) was suspected and later confirmed by angiography. Heart failure developed and closure of the AoPAw, transplantation of the left pulmonary artery and closure of the atrial septal defect was performed at the age of 4 weeks. But the patient did not improve. Pulmonary hypertension with suprasystemic pressure in the right ventricle originating from a stenosis of the new orifice of the left pulmonary artery and obstruction of the right pulmonary veins was diagnosed by echocardiography and confirmed by angiography. At the age of 8 months the orifice of the left pulmonary artery was enlarged by a patch, the obstruction of left sided pulmonary veins was opened, and the rightsided pulmonary veins were newly implanted into the left atrium. Finally the inter-atrial communication was closed by a patch plastic. Again, postoperatively the patient improved only slightly. At the age of 10 months trans-septal catheterisation was performed. Angiography revealed a successful balloon dilatation of the long obstruction of the right pulmonary veins. Later on, an absorbable magnesium stent was implanted into the right upper pulmonary vein and medication with an endothelin antagonist was started. Temporarily the patient improved significantly. Within 6 weeks, right ventricular systolic pressure was again suprasystemic due to extreme inflow obstruction of the right pulmonary vein diagnosed by echocardiography. Severe heart failure developed and at the age of 1 year the patient died. PMID:16598388

  15. Differential diagnosis of multiple vertebral compression: butterfly vertebrae

    PubMed Central

    Ozaras, Nihal; Gumussu, Kevser; Demir, Saliha Eroglu; Rezvani, Aylin

    2015-01-01

    [Purpose] A butterfly vertebra is a rare congenital anomaly resulting from a symmetric fusion defect. Only a few cases of butterfly vertebra have been described. This anomaly may be isolated or associated with Pfeiffer, Jarcho-Levins, Crouzon, or Alagille syndrome. [Subject and Methods] We herein describe a 38-year-old man who presented with neck and low back pain and was found to have butterfly vertebrae at the T9 and L3 levels. He also had Behçet’s disease and psoriasis. [Results] The patient’s symptoms improved with analgesics and physiotherapy. [Conclusion] To our knowledge, butterfly vertebrae at two levels have never been reported. Butterfly vertebrae may be confused with vertebral fractures in lateral radiographs, and awareness of this anomaly is important for a correct diagnosis. PMID:26696746

  16. The epidemiology of vertebral fractures. European Vertebral Osteoporosis Study Group.

    PubMed

    Cooper, C; O'Neill, T; Silman, A

    1993-01-01

    Vertebral fractures are recognised as a hallmark of osteoporosis, yet little is known of their epidemiology. This deficiency limits accurate characterisation of the public health importance of osteoporosis. Assessment of the impact of vertebral fractures has been hampered by the absence of formal criteria for identifying fractures on a thoracolumbar radiograph. Initial methods relying upon subjective radiological assessments have given way to morphometric measurements of vertebral heights, with deformities defined according to various algorithms. These methods have been used in a series of studies performed in Rochester, MN, to determine the incidence, outcome, and time trends of vertebral deformities. The results suggest a prevalence rate of vertebral deformity of 25.3 per 100 Rochester women aged 50 years and over (95% CI, 22.3-28.2), with an estimated incidence of 17.8 per 1,000 person-years. The incidence of clinically diagnosed vertebral fractures among women in the same population was 5.3 per 1,000 person-years, suggesting that around 30% of such deformities in women receive clinical attention. Morphometric measurement on the radiographs of women with clinically diagnosed fractures revealed that 80% had grade 2 ( > 4 SD) deformities. Comparable data on the occurrence and health impact of vertebral deformities throughout Europe are urgently required. The European Vertebral Osteoporosis Study (EVOS) is a multicentre epidemiological study that aims to address this issue. It is designed as a radiographic prevalence study in 34 European centres.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8110529

  17. Vertebral fracture classification

    NASA Astrophysics Data System (ADS)

    de Bruijne, Marleen; Pettersen, Paola C.; Tankó, László B.; Nielsen, Mads

    2007-03-01

    A novel method for classification and quantification of vertebral fractures from X-ray images is presented. Using pairwise conditional shape models trained on a set of healthy spines, the most likely unfractured shape is estimated for each of the vertebrae in the image. The difference between the true shape and the reconstructed normal shape is an indicator for the shape abnormality. A statistical classification scheme with the two shapes as features is applied to detect, classify, and grade various types of deformities. In contrast with the current (semi-)quantitative grading strategies this method takes the full shape into account, it uses a patient-specific reference by combining population-based information on biological variation in vertebra shape and vertebra interrelations, and it provides a continuous measure of deformity. Good agreement with manual classification and grading is demonstrated on 204 lateral spine radiographs with in total 89 fractures.

  18. Chemical ecology of vertebrate carrion

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Vertebrate carrion is a nutrient-rich, ephemeral resource that is utilized by many different organisms ranging from vertebrate and invertebrate scavengers to microbes. The organisms that consume carrion play an important ecological role, as decomposition is vital to ecosystem function. Without the...

  19. Taussig-Bing Anomaly

    PubMed Central

    Konstantinov, Igor E.

    2009-01-01

    Taussig-Bing anomaly is a rare congenital heart malformation that was first described in 1949 by Helen B. Taussig (1898–1986) and Richard J. Bing (1909–). Although substantial improvement has since been achieved in surgical results of the repair of the anomaly, management of the Taussig-Bing anomaly remains challenging. A history of the original description of the anomaly, the life stories of the individuals who first described it, and the current outcomes of its surgical management are reviewed herein. PMID:20069085

  20. Competing Orders and Anomalies.

    PubMed

    Moon, Eun-Gook

    2016-01-01

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

  1. Competing Orders and Anomalies

    PubMed Central

    Moon, Eun-Gook

    2016-01-01

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

  2. Competing Orders and Anomalies

    NASA Astrophysics Data System (ADS)

    Moon, Eun-Gook

    2016-08-01

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

  3. Lymphatic regulation in nonmammalian vertebrates.

    PubMed

    Hedrick, Michael S; Hillman, Stanley S; Drewes, Robert C; Withers, Philip C

    2013-08-01

    All vertebrate animals share in common the production of lymph through net capillary filtration from their closed circulatory system into their tissues. The balance of forces responsible for net capillary filtration and lymph formation is described by the Starling equation, but additional factors such as vascular and interstitial compliance, which vary markedly among vertebrates, also have a significant impact on rates of lymph formation. Why vertebrates show extreme variability in rates of lymph formation and how nonmammalian vertebrates maintain plasma volume homeostasis is unclear. This gap hampers our understanding of the evolution of the lymphatic system and its interaction with the cardiovascular system. The evolutionary origin of the vertebrate lymphatic system is not clear, but recent advances suggest common developmental factors for lymphangiogenesis in teleost fishes, amphibians, and mammals with some significant changes in the water-land transition. The lymphatic system of anuran amphibians is characterized by large lymphatic sacs and two pairs of lymph hearts that return lymph into the venous circulation but no lymph vessels per se. The lymphatic systems of reptiles and some birds have lymph hearts, and both groups have extensive lymph vessels, but their functional role in both lymph movement and plasma volume homeostasis is almost completely unknown. The purpose of this review is to present an evolutionary perspective in how different vertebrates have solved the common problem of the inevitable formation of lymph from their closed circulatory systems and to point out the many gaps in our knowledge of this evolutionary progression. PMID:23640588

  4. Müllerian anomalies.

    PubMed

    Gell, Jennifer S

    2003-11-01

    The reproductive organs in both males and females consist of gonads, internal ductal structures, and external genitalia. Normal sexual differentiation is dependent on the genetic sex determined by the presence or absence of the Y chromosome at fertilization. Testes develop under the influence of the Y chromosome and ovaries develop when no Y chromosome is present. In the absence of testes and their normal hormonal products, sexual differentiation proceeds along the female pathway, resulting in a normal female phenotype. Anatomic gynecologic anomalies occur when there is failure of normal embryologic ductal development. These anomalies include congenital absence of the vagina as well as defects in lateral and vertical fusion of the Müllerian ducts. Treatment of müllerian anomalies begins with the correct identification of the anomaly and an understanding of the embryologic origin. This includes evaluation for other associated anomalies such as renal or skeletal abnormalities. After correct identification, treatment options include nonsurgical as well as surgical intervention. This chapter serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented. PMID:14724770

  5. Behavioral economics without anomalies.

    PubMed Central

    Rachlin, H

    1995-01-01

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

  6. Anomalies and entanglement entropy

    NASA Astrophysics Data System (ADS)

    Nishioka, Tatsuma; Yarom, Amos

    2016-03-01

    We initiate a systematic study of entanglement and Rényi entropies in the presence of gauge and gravitational anomalies in even-dimensional quantum field theories. We argue that the mixed and gravitational anomalies are sensitive to boosts and obtain a closed form expression for their behavior under such transformations. Explicit constructions exhibiting the dependence of entanglement entropy on boosts is provided for theories on spacetimes with non-trivial magnetic fluxes and (or) non-vanishing Pontryagin classes.

  7. Dual diaphragmatic anomalies.

    PubMed

    Padmanabhan, Arjun; Thomas, Abin Varghese

    2016-01-01

    Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant multiple anomalies is extremely rare. This is all the more true in adults. Herein, we present the case of a 75-year-old female, while undergoing a routine chest X-ray imaging, was found to have eventration of right hemidiaphragm along with a hiatus hernia as well. PMID:27625457

  8. Dual diaphragmatic anomalies

    PubMed Central

    Padmanabhan, Arjun; Thomas, Abin Varghese

    2016-01-01

    Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant multiple anomalies is extremely rare. This is all the more true in adults. Herein, we present the case of a 75-year-old female, while undergoing a routine chest X-ray imaging, was found to have eventration of right hemidiaphragm along with a hiatus hernia as well.

  9. On isostatic geoid anomalies

    NASA Technical Reports Server (NTRS)

    Haxby, W. F.; Turcotte, D. L.

    1978-01-01

    In regions of slowly varying lateral density changes, the gravity and geoid anomalies may be expressed as power series expansions in topography. Geoid anomalies in isostatically compensated regions can be directly related to the local dipole moment of the density-depth distribution. This relationship is used to obtain theoretical geoid anomalies for different models of isostatic compensation. The classical Pratt and Airy models give geoid height-elevation relationships differing in functional form but predicting geoid anomalies of comparable magnitude. The thermal cooling model explaining ocean floor subsidence away from mid-ocean ridges predicts a linear age-geoid height relationship of 0.16 m/m.y. Geos 3 altimetry profiles were examined to test these theoretical relationships. A profile over the mid-Atlantic ridge is closely matched by the geoid curve derived from the thermal cooling model. The observed geoid anomaly over the Atlantic margin of North America can be explained by Airy compensation. The relation between geoid anomaly and bathymetry across the Bermuda Swell is consistent with Pratt compensation with a 100-km depth of compensation.

  10. Evolution of vertebrate retinal photoreception

    PubMed Central

    Lamb, Trevor D.

    2009-01-01

    Recent findings shed light on the steps underlying the evolution of vertebrate photoreceptors and retina. Vertebrate ciliary photoreceptors are not as wholly distinct from invertebrate rhabdomeric photoreceptors as is sometimes thought. Recent information on the phylogenies of ciliary and rhabdomeric opsins has helped in constructing the likely routes followed during evolution. Clues to the factors that led the early vertebrate retina to become invaginated can be obtained by combining recent knowledge about the origin of the pathway for dark re-isomerization of retinoids with knowledge of the inability of ciliary opsins to undergo photoreversal, along with consideration of the constraints imposed under the very low light levels in the deep ocean. Investigation of the origin of cell classes in the vertebrate retina provides support for the notion that cones, rods and bipolar cells all originated from a primordial ciliary photoreceptor, whereas ganglion cells, amacrine cells and horizontal cells all originated from rhabdomeric photoreceptors. Knowledge of the molecular differences between cones and rods, together with knowledge of the scotopic signalling pathway, provides an understanding of the evolution of rods and of the rods' retinal circuitry. Accordingly, it has been possible to propose a plausible scenario for the sequence of evolutionary steps that led to the emergence of vertebrate photoreceptors and retina. PMID:19720653

  11. Medical treatment of vertebral osteoporosis.

    PubMed

    Lippuner, K

    2003-10-01

    Although osteoporosis is a systemic disease, vertebral fractures due to spinal bone loss are a frequent, sometimes early and often neglected complication of the disease, generally associated with considerable disability and pain. As osteoporotic vertebral fractures are an important predictor of future fracture risk, including at the hip, medical management is targeted at reducing fracture risk. A literature search for randomized, double-blind, prospective, controlled clinical studies addressing medical treatment possibilities of vertebral fractures in postmenopausal Caucasian women was performed on the leading medical databases. For each publication, the number of patients with at least one new vertebral fracture and the number of randomized patients by treatment arm was retrieved. The relative risk (RR) and the number needed to treat (NNT, i.e. the number of patients to be treated to avoid one radiological vertebral fracture over the duration of the study), together with the respective 95% confidence intervals (95%CI) were calculated for each study. Treatment of steroid-induced osteoporosis and treatment of osteoporosis in men were reviewed separately, based on the low number of publications available. Forty-five publications matched with the search criteria, allowing for analysis of 15 different substances tested regarding their anti-fracture efficacy at the vertebral level. Bisphosphonates, mainly alendronate and risedronate, were reported to have consistently reduced the risk of a vertebral fracture over up to 50 months of treatment in four (alendronate) and two (risedronate) publications. Raloxifene reduced vertebral fracture risk in one study over 36 months, which was confirmed by 48 months' follow-up data. Parathormone (PTH) showed a drastic reduction in vertebral fracture risk in early studies, while calcitonin may also be a treatment option to reduce fracture risk. For other substances published data are conflicting (calcitriol, fluoride) or insufficient

  12. Dysplasia of the caudal vertebral articular facets in four dogs: results of radiographic, myelographic and magnetic resonance imaging investigations.

    PubMed

    Penderis, J; Schwarz, T; McConnell, J F; Garosi, L S; Thomson, C E; Dennis, R

    2005-05-01

    Congenital anomalies of the vertebral column associated with aberrations of one of the primary vertebral ossification centres have been frequently described in the veterinary literature, but clinically significant abnormalities of secondary vertebral ossification centres, particularly involving the caudal articular processes, are much less frequently reported. This paper describes three dogs with aplasia and one dog with hypoplasia of the caudal vertebral articular processes. Thoracolumbar spinal cord compression and ataxia was evident in the three dogs with aplasia but no clinical signs were evident in the dog with hypoplasia. The radiographic appearance was similar in all four cases, with aplasia or hypoplasia of the caudal articular facets at one or more intervertebral joints in the thoracolumbar region. Bone proliferation was evident secondary to an associated degenerative joint disease. Compensatory hyperplasia of the adjacent cranial articular facets and ligamentum flavum protruded into the vertebral canal, resulting in a compressive myelopathy observed by myelography and magnetic resonance imaging. PMID:15879540

  13. Astrometric solar system anomalies

    SciTech Connect

    Nieto, Michael Martin; Anderson, John D

    2009-01-01

    There are at least four unexplained anomalies connected with astrometric data. perhaps the most disturbing is the fact that when a spacecraft on a flyby trajectory approaches the Earth within 2000 km or less, it often experiences a change in total orbital energy per unit mass. next, a secular change in the astronomical unit AU is definitely a concern. It is increasing by about 15 cm yr{sup -1}. The other two anomalies are perhaps less disturbing because of known sources of nongravitational acceleration. The first is an apparent slowing of the two Pioneer spacecraft as they exit the solar system in opposite directions. Some astronomers and physicists are convinced this effect is of concern, but many others are convinced it is produced by a nearly identical thermal emission from both spacecraft, in a direction away from the Sun, thereby producing acceleration toward the Sun. The fourth anomaly is a measured increase in the eccentricity of the Moon's orbit. Here again, an increase is expected from tidal friction in both the Earth and Moon. However, there is a reported unexplained increase that is significant at the three-sigma level. It is produent to suspect that all four anomalies have mundane explanations, or that one or more anomalies are a result of systematic error. Yet they might eventually be explained by new physics. For example, a slightly modified theory of gravitation is not ruled out, perhaps analogous to Einstein's 1916 explanation for the excess precession of Mercury's perihelion.

  14. Learning about Vertebrate Limb Development

    ERIC Educational Resources Information Center

    Liang, Jennifer O.; Noll, Matthew; Olsen, Shayna

    2014-01-01

    We have developed an upper-level undergraduate laboratory exercise that enables students to replicate a key experiment in developmental biology. In this exercise, students have the opportunity to observe live chick embryos and stain the apical ectodermal ridge, a key tissue required for development of the vertebrate limb. Impressively, every…

  15. Genetics Home Reference: VACTERL association

    MedlinePlus

    ... Raam MS, Pineda-Alvarez DE, Hadley DW, Solomon BD. Long-term outcomes of adults with features of ... PubMed or Free article on PubMed Central Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton ...

  16. QCD trace anomaly

    SciTech Connect

    Andersen, Jens O.; Leganger, Lars E.; Strickland, Michael; Su, Nan

    2011-10-15

    In this brief report we compare the predictions of a recent next-to-next-to-leading order hard-thermal-loop perturbation theory (HTLpt) calculation of the QCD trace anomaly to available lattice data. We focus on the trace anomaly scaled by T{sup 2} in two cases: N{sub f}=0 and N{sub f}=3. When using the canonical value of {mu}=2{pi}T for the renormalization scale, we find that for Yang-Mills theory (N{sub f}=0) agreement between HTLpt and lattice data for the T{sup 2}-scaled trace anomaly begins at temperatures on the order of 8T{sub c}, while treating the subtracted piece as an interaction term when including quarks (N{sub f}=3) agreement begins already at temperatures above 2T{sub c}. In both cases we find that at very high temperatures the T{sup 2}-scaled trace anomaly increases with temperature in accordance with the predictions of HTLpt.

  17. Modeling the Pioneer anomaly

    NASA Astrophysics Data System (ADS)

    Leibovitz, Jacques

    2007-04-01

    Scientists continue their attempts to model the observed Pioneer anomaly (PA) as an artifact of measurement or of equipment operation. Scientists also explore ``new physics'' as a possible explanation, but they have eliminated dark matter (DM). Here, the main arguments used to eliminate DM are refuted and then the anomaly is modeled by application of Newton laws to the observed macroscopic properties of DM. Around a central mass M, the modeling predicts a DM distribution that produces the PA at short distances (R smaller than 188 AU) from a star like the Sun, and a flat rotation curve at sufficiently large distances from the center of a galaxy. Below about 188 AU from the Sun, the modeling predicts that the anomaly may be expressed as PA = 8.3E-8 [R̂(-2)] -- 1 cm (s)̂(-2). It shows that the anomaly remains fairly constant down to 5 AU, decreases significantly from 5 AU to 1 AU where it becomes zero and changes sign below a distance of 1 AU, then increases rapidly in magnitude as R decreases in that range. Verifiable tests are proposed. Some related topics for future research are proposed.

  18. Vertebral Augmentation for Osteoporotic Compression Fractures.

    PubMed

    Richmond, Bradford J

    2016-01-01

    Vertebral augmentation procedures such as vertebroplasty and kyphoplasty were developed to reduce pain and improve quality of life for patients with osteoporotic vertebral compression fractures. However, the use of vertebral augmentation has been debated and questioned since its inception. This article addresses some of these issues. PMID:26490134

  19. Two cases of Townes-Brocks syndrome with previously undescribed anomalies.

    PubMed

    Marlin, S; Toublanc, J E; Petit, C

    1998-10-01

    Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported. PMID:9823498

  20. Climate change and marine vertebrates.

    PubMed

    Sydeman, William J; Poloczanska, Elvira; Reed, Thomas E; Thompson, Sarah Ann

    2015-11-13

    Climate change impacts on vertebrates have consequences for marine ecosystem structures and services. We review marine fish, mammal, turtle, and seabird responses to climate change and discuss their potential for adaptation. Direct and indirect responses are demonstrated from every ocean. Because of variation in research foci, observed responses differ among taxonomic groups (redistributions for fish, phenology for seabirds). Mechanisms of change are (i) direct physiological responses and (ii) climate-mediated predator-prey interactions. Regional-scale variation in climate-demographic functions makes range-wide population dynamics challenging to predict. The nexus of metabolism relative to ecosystem productivity and food webs appears key to predicting future effects on marine vertebrates. Integration of climate, oceanographic, ecosystem, and population models that incorporate evolutionary processes is needed to prioritize the climate-related conservation needs for these species. PMID:26564847

  1. Anomaly discrimination in hyperspectral imagery

    NASA Astrophysics Data System (ADS)

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

    2014-05-01

    Anomaly detection finds data samples whose signatures are spectrally distinct from their surrounding data samples. Unfortunately, it cannot discriminate the anomalies it detected one from another. In order to accomplish this task it requires a way of measuring spectral similarity such as spectral angle mapper (SAM) or spectral information divergence (SID) to determine if a detected anomaly is different from another. However, this arises in a challenging issue of how to find an appropriate thresholding value for this purpose. Interestingly, this issue has not received much attention in the past. This paper investigates the issue of anomaly discrimination which can differentiate detected anomalies without using any spectral measure. The ideas are to makes use unsupervised target detection algorithms, Automatic Target Generation Process (ATGP) coupled with an anomaly detector to distinguish detected anomalies. Experimental results show that the proposed methods are indeed very effective in anomaly discrimination.

  2. Extraneural Glioblastoma Multiforme Vertebral Metastasis.

    PubMed

    Goodwin, C Rory; Liang, Lydia; Abu-Bonsrah, Nancy; Hdeib, Alia; Elder, Benjamin D; Kosztowski, Thomas; Bettegowda, Chetan; Laterra, John; Burger, Peter; Sciubba, Daniel M

    2016-05-01

    Glioblastoma multiforme (GBM) is the most common malignant central nervous system tumor; however, extraneural metastasis is uncommon. Of those that metastasize extraneurally, metastases to the vertebral bodies represent a significant proportion. We present a review of 28 cases from the published literature of GBM metastasis to the vertebra. The mean age at presentation was 38.4 years with an average overall survival of 26 months. Patients were either asymptomatic with metastasis discovered at autopsy or presented with varying degrees of pain, weakness of the extremities, or other neurologic deficits. Of the cases that included the time to spinal metastasis, the average time was 26.4 months with a reported survival of 10 months after diagnosis of vertebral metastasis. A significant number of patients had no treatments for their spinal metastasis, although the intracranial lesions were treated extensively with surgery and/or adjuvant therapy. With increasing incremental gains in the survival of patients with GBM, clinicians will encounter patients with extracranial metastasis. As such, this review presents timely information concerning the presentation and outcomes of patients with vertebral metastasis. PMID:26704201

  3. Extraneural Glioblastoma Multiforme Vertebral Metastasis

    PubMed Central

    Goodwin, C. Rory; Liang, Lydia; Abu-Bonsrah, Nancy; Hdeib, Alia; Elder, Benjamin D.; Kosztowski, Thomas; Bettegowda, Chetan; Laterra, John; Burger, Peter; Sciubba, Daniel M.

    2016-01-01

    Glioblastoma multiforme (GBM) is the most common malignant central nervous system tumor; however, extraneural metastasis is uncommon. Of those that metastasize extraneurally, metastases to the vertebral bodies represent a significant proportion. We present a review of 28 cases from the published literature of GBM metastasis to the vertebra. The mean age at presentation was 38.4 years with an average overall survival of 26 months. Patients were either asymptomatic with metastasis discovered at autopsy or presented with varying degrees of pain, weakness of the extremities, or other neurologic deficits. Of the cases that included the time to spinal metastasis, the average time was 26.4 months with a reported survival of 10 months after diagnosis of vertebral metastasis. A significant number of patients had no treatments for their spinal metastasis, although the intracranial lesions were treated extensively with surgery and/or adjuvant therapy. With increasing incremental gains in the survival of patients with GBM, clinicians will encounter patients with extracranial metastasis. As such, this review presents timely information concerning the presentation and outcomes of patients with vertebral metastasis. PMID:26704201

  4. Vertebral development and amphibian evolution.

    PubMed

    Carroll, R L; Kuntz, A; Albright, K

    1999-01-01

    Amphibians provide an unparalleled opportunity to integrate studies of development and evolution through the investigation of the fossil record of larval stages. The pattern of vertebral development in modern frogs strongly resembles that of Paleozoic labyrinthodonts in the great delay in the ossification of the vertebrae, with the centra forming much later than the neural arches. Slow ossification of the trunk vertebrae in frogs and the absence of ossification in the tail facilitate the rapid loss of the tail during metamorphosis, and may reflect retention of the pattern in their specific Paleozoic ancestors. Salamanders and caecilians ossify their centra at a much earlier stage than frogs, which resembles the condition in Paleozoic lepospondyls. The clearly distinct patterns and rates of vertebral development may indicate phylogenetic separation between the ultimate ancestors of frogs and those of salamanders and caecilians within the early radiation of ancestral tetrapods. This divergence may date from the Lower Carboniferous. Comparison with the molecular regulation of vertebral development described in modern mammals and birds suggests that the rapid chondrification of the centra in salamanders relative to that of frogs may result from the earlier migration of sclerotomal cells expressing Pax1 to the area surrounding the notochord. PMID:11324019

  5. Vertebral Fractures: Clinical Importance and Management.

    PubMed

    Kendler, D L; Bauer, D C; Davison, K S; Dian, L; Hanley, D A; Harris, S T; McClung, M R; Miller, P D; Schousboe, J T; Yuen, C K; Lewiecki, E M

    2016-02-01

    Vertebral fractures are common and can result in acute and chronic pain, decreases in quality of life, and diminished lifespan. The identification of vertebral fractures is important because they are robust predictors of future fractures. The majority of vertebral fractures do not come to clinical attention. Numerous modalities exist for visualizing suspected vertebral fracture. Although differing definitions of vertebral fracture may present challenges in comparing data between different investigations, at least 1 in 5 men and women aged >50 years have one or more vertebral fractures. There is clinical guidance to target spine imaging to individuals with a high probability of vertebral fracture. Radiology reports of vertebral fracture need to clearly state that the patient has a "fracture," with further pertinent details such as the number, recency, and severity of vertebral fracture, each of which is associated with risk of future fractures. Patients with vertebral fracture should be considered for antifracture therapy. Physical and pharmacologic modalities of pain control and exercises or physiotherapy to maintain spinal movement and strength are important components in the care of vertebral fracture patients. PMID:26524708

  6. Antler anomalies in tule elk

    USGS Publications Warehouse

    Gogan, Peter J.P.; Jessup, David A.; Barrett, Reginald H.

    1988-01-01

    Antler anomalies were evident in tule elk (Cervus elaphus nannodes) within 1 yr of reintroduction to Point Reyes, California (USA). These anomalies are consistent with previously described mineral deficiency-induced anomalies in cervids. The elk were judged deficient in copper. Low levels of copper in soils and vegetation at the release site, exacerbated by possible protein deficiency due to poor range conditions, are postulated as likely causes of the antler anomalies.

  7. Bilateral mechanical rotational vertebral artery occlusion.

    PubMed

    Dargon, Phong T; Liang, Conrad W; Kohal, Anmol; Dogan, Aclan; Barnwell, Stanley L; Landry, Gregory J

    2013-10-01

    Rotational vertebral artery occlusion, or bow hunter's stroke, is reversible, positional symptomatic vertebrobasilar ischemia. The typical mechanism of action is obstruction of a dominant vertebral artery with contralateral head rotation in the setting of baseline ipsilateral vertebral artery stenosis or occlusion. Here we present a rare case of mechanical occlusion of bilateral patent vertebral arteries manifesting as near syncope with rightward head rotation. Diagnostic cerebral angiography showed dynamic right C5 vertebral occlusion and left C2 vertebral occlusion. The patient underwent right C4/5 transverse process decompression. Postoperative angiogram showed patent flow through the right vertebral artery in neutral position and with head turn with resultant resolution of symptoms. PMID:23465174

  8. Mass Anomalies on Ganymede

    NASA Technical Reports Server (NTRS)

    Schubert, G.; Anderson, J. D.; Jacobson, R. A.; Lau, E. L.; Moore, W. B.; Palguta, J.

    2004-01-01

    Radio Doppler data from two Ganymede encounters (G1 and G2) on the first two orbits in the Galileo mission have been analyzed previously for gravity information . For a satellite in hydrostatic equilibrium, its gravitational field can be modeled adequately by a truncated spherical harmonic series of degree two. However, a fourth degree field is required in order to fit the second Galileo flyby (G2). This need for a higher degree field strongly suggests that Ganymede s gravitational field is perturbed by a gravity anomaly near the G2 closest approach point (79.29 latitude, 123.68 west longitude). In fact, a plot of the Doppler residuals , after removal of the best-fit model for the zero degree term (GM) and the second degree moments (J2 and C22), suggests that if an anomaly exists, it is located downtrack of the closest approach point, closer to the equator.

  9. Physicochemical isotope anomalies

    SciTech Connect

    Esat, T.M.

    1988-06-01

    Isotopic composition of refractory elements can be modified, by physical processes such as distillation and sputtering, in unexpected patterns. Distillation enriches the heavy isotopes in the residue and the light isotopes in the vapor. However, current models appear to be inadequate to describe the detailed mass dependence, in particular for large fractionations. Coarse- and fine-grained inclusions from the Allende meteorite exhibit correlated isotope effects in Mg both as mass-dependent fractionation and residual anomalies. This isotope pattern can be duplicated by high temperature distillation in the laboratory. A ubiquitous property of meteoritic inclusions for Mg as well as for most of the other elements, where measurements exist, is mass-dependent fractionation. In contrast, terrestrial materials such as microtektites, tektite buttons as well as lunar orange and green glass spheres have normal Mg isotopic composition. A subset of interplanetary dust particles labelled as chondritic aggregates exhibit excesses in {sup 26}Mg and deuterium anomalies. Sputtering is expected to be a dominant mechanism in the destruction of grains within interstellar dust clouds. An active proto-sun as well as the present solar-wind and solar-flare flux are of sufficient intensity to sputter significant amounts of material. Laboratory experiments in Mg show widespread isotope effects including residual {sup 26}Mg excesses and mass dependent fractionation. It is possible that the {sup 26}Mg excesses in interplanetary dust is related to sputtering by energetic solar-wind particles. The implication if the laboratory distillation and sputtering effects are discussed and contrasted with the anomalies in meteoritic inclusions the other extraterrestrial materials the authors have access to.

  10. Hypercharged anomaly mediation.

    PubMed

    Dermísek, Radovan; Verlinde, Herman; Wang, Lian-Tao

    2008-04-01

    We show that, in string models with the minimal supersymmetric standard model residing on D-branes, the bino mass can be generated in a geometrically separated hidden sector. Hypercharge mediation thus naturally teams up with anomaly mediation. The mixed scenario predicts a distinctive yet viable superpartner spectrum, provided that the ratio alpha between the bino and gravitino mass lies in the range 0.05 < or = |alpha| < or = 0.25 and m(3/2) > or = 35 TeV. We summarize some of the experimental signatures of this scenario. PMID:18517937

  11. Satellite magnetic anomalies over subduction zones - The Aleutian Arc anomaly

    NASA Technical Reports Server (NTRS)

    Clark, S. C.; Frey, H.; Thomas, H. H.

    1985-01-01

    Positive magnetic anomalies seen in MAGSAT average scalar anomaly data overlying some subduction zones can be explained in terms of the magnetization contrast between the cold subducted oceanic slab and the surrounding hotter, nonmagnetic mantle. Three-dimensional modeling studies show that peak anomaly amplitude and location depend on slab length and dip. A model for the Aleutian Arc anomaly matches the general trend of the observed MAGSAT anomaly if a slab thickness of 7 km and a relatively high (induced plus viscous) magnetization contrast of 4 A/m are used. A second source body along the present day continental margin is required to match the observed anomaly in detail, and may be modeled as a relic slab from subduction prior to 60 m.y. ago.

  12. Evolutionary Specialization of Tactile Perception in Vertebrates.

    PubMed

    Schneider, Eve R; Gracheva, Elena O; Bagriantsev, Slav N

    2016-05-01

    Evolution has endowed vertebrates with the remarkable tactile ability to explore the world through the perception of physical force. Yet the sense of touch remains one of the least well understood senses at the cellular and molecular level. Vertebrates specializing in tactile perception can highlight general principles of mechanotransduction. Here, we review cellular and molecular adaptations that underlie the sense of touch in typical and acutely mechanosensitive vertebrates. PMID:27053733

  13. Variance in the treatment of vertebral haemangiomas.

    PubMed

    Rawat, Sheh; Nangia, S; Ezhilalan, R B; Bansal, A K; Ghosh, D

    2007-01-01

    Vertebral haemangiomas constitute an infrequently encounterd entity in clinical practice. Although x-ray, computerised tomography scan and magnetic resonance Imaging scan provide a pathognomic picture confirming the diagnosis of vertebral haemangiomas, angiography constitutes an important tool for diagnosis and helps in deciding and execution of treatment. Various treatment modalities like surgery, radiotherapy, pre-operative embolisation, percutaneous vertebroplasty and intralesional ethanol have been discussed in the setting of asymptomatic vertebral haemangiomas to those presenting with features of cord compression. PMID:17802977

  14. General management of vertebral fractures.

    PubMed

    Rapado, A

    1996-03-01

    Vertebral fractures cause pain and disability. Four concepts should guide their comprehensive management: treat the patient, not the skeleton; use a multidisciplinary approach; engage the patient and his or her family in the treatment; and provide appropriate goals, education, encouragement, and support. The goals include procuring bone mass and preventing injury: back support, physical therapy, occupational therapy, psychosocial support, and prevention of falls. Initial treatment includes bed rest, pain management with local and systemic analgesia, bracing to improve comfort, and patient reassurance. Long-term management includes spinal stretching exercises and continuing ordinary activities within limits permitted by pain. A back school program is an effective addition to conventional concepts using physiotherapy exclusively. In certain selected patients, the indication for operative treatment of vertebral fracture depends on the additional injury, and extent and characteristics of cord compression; stability of the fracture; and the amount of deformity. Vertebroplasty can be effective in the control of pain and in obtaining stability of the spine. PMID:8777087

  15. Centrosome positioning in vertebrate development

    PubMed Central

    Tang, Nan; Marshall, Wallace F.

    2012-01-01

    Summary The centrosome, a major organizer of microtubules, has important functions in regulating cell shape, polarity, cilia formation and intracellular transport as well as the position of cellular structures, including the mitotic spindle. By means of these activities, centrosomes have important roles during animal development by regulating polarized cell behaviors, such as cell migration or neurite outgrowth, as well as mitotic spindle orientation. In recent years, the pace of discovery regarding the structure and composition of centrosomes has continuously accelerated. At the same time, functional studies have revealed the importance of centrosomes in controlling both morphogenesis and cell fate decision during tissue and organ development. Here, we review examples of centrosome and centriole positioning with a particular emphasis on vertebrate developmental systems, and discuss the roles of centrosome positioning, the cues that determine positioning and the mechanisms by which centrosomes respond to these cues. The studies reviewed here suggest that centrosome functions extend to the development of tissues and organs in vertebrates. PMID:23277534

  16. Ghrelin Receptors in Non-Mammalian Vertebrates

    PubMed Central

    Kaiya, Hiroyuki; Kangawa, Kenji; Miyazato, Mikiya

    2012-01-01

    The growth hormone secretagogue-receptor (GHS-R) was discovered in humans and pigs in 1996. The endogenous ligand, ghrelin, was discovered 3 years later, in 1999, and our understanding of the physiological significance of the ghrelin system in vertebrates has grown steadily since then. Although the ghrelin system in non-mammalian vertebrates is a subject of great interest, protein sequence data for the receptor in non-mammalian vertebrates has been limited until recently, and related biological information has not been well organized. In this review, we summarize current information related to the ghrelin receptor in non-mammalian vertebrates. PMID:23882259

  17. Automated anomaly detection processor

    NASA Astrophysics Data System (ADS)

    Kraiman, James B.; Arouh, Scott L.; Webb, Michael L.

    2002-07-01

    Robust exploitation of tracking and surveillance data will provide an early warning and cueing capability for military and civilian Law Enforcement Agency operations. This will improve dynamic tasking of limited resources and hence operational efficiency. The challenge is to rapidly identify threat activity within a huge background of noncombatant traffic. We discuss development of an Automated Anomaly Detection Processor (AADP) that exploits multi-INT, multi-sensor tracking and surveillance data to rapidly identify and characterize events and/or objects of military interest, without requiring operators to specify threat behaviors or templates. The AADP has successfully detected an anomaly in traffic patterns in Los Angeles, analyzed ship track data collected during a Fleet Battle Experiment to detect simulated mine laying behavior amongst maritime noncombatants, and is currently under development for surface vessel tracking within the Coast Guard's Vessel Traffic Service to support port security, ship inspection, and harbor traffic control missions, and to monitor medical surveillance databases for early alert of a bioterrorist attack. The AADP can also be integrated into combat simulations to enhance model fidelity of multi-sensor fusion effects in military operations.

  18. The XXXXY Chromosome Anomaly

    PubMed Central

    Zaleski, Witold A.; Houston, C. Stuart; Pozsonyi, J.; Ying, K. L.

    1966-01-01

    The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter's syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all. Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig's cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter's syndrome. The relationship of this syndrome to Klinefelter's syndrome and to Down's syndrome is discussed. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10Fig. 11Fig. 12Fig. 13Fig. 14Fig. 15 PMID:4222822

  19. Trace anomaly driven inflation

    NASA Astrophysics Data System (ADS)

    Hawking, S. W.; Hertog, T.; Reall, H. S.

    2001-04-01

    This paper investigates Starobinsky's model of inflation driven by the trace anomaly of conformally coupled matter fields. This model does not suffer from the problem of contrived initial conditions that occurs in most models of inflation driven by a scalar field. The universe can be nucleated semiclassically by a cosmological instanton that is much larger than the Planck scale provided there are sufficiently many matter fields. There are two cosmological instantons: the four sphere and a new ``double bubble'' solution. This paper considers a universe nucleated by the four sphere. The AdS/CFT correspondence is used to calculate the correlation function for scalar and tensor metric perturbations during the ensuing de Sitter phase. The analytic structure of the scalar and tensor propagators is discussed in detail. Observational constraints on the model are discussed. Quantum loops of matter fields are shown to strongly suppress short scale metric perturbations, which implies that short distance modifications of gravity would probably not be observable in the cosmic microwave background. This is probably true for any model of inflation provided there are sufficiently many matter fields. This point is illustrated by a comparison of anomaly driven inflation in four dimensions and in a Randall-Sundrum brane-world model.

  20. Quantum anomalies in dense matter

    SciTech Connect

    Son, D.T.; Zhitnitsky, Ariel R.

    2004-10-01

    We consider the effects of quantum anomalies involving the baryon current for high-density matter. In the effective Lagrangian, the anomaly terms describe the interaction of three light fields: the electromagnetic photons A{sub {mu}}, neutral light Nambu-Goldstone bosons ({pi}, {eta}, {eta}{sup '}), and the superfluid phonon. The anomaly induced interactions lead to a number of interesting phenomena which may have phenomenological consequences observable in neutron stars.

  1. Building the backbone: the development and evolution of vertebral patterning.

    PubMed

    Fleming, Angeleen; Kishida, Marcia G; Kimmel, Charles B; Keynes, Roger J

    2015-05-15

    The segmented vertebral column comprises a repeat series of vertebrae, each consisting of two key components: the vertebral body (or centrum) and the vertebral arches. Despite being a defining feature of the vertebrates, much remains to be understood about vertebral development and evolution. Particular controversy surrounds whether vertebral component structures are homologous across vertebrates, how somite and vertebral patterning are connected, and the developmental origin of vertebral bone-mineralizing cells. Here, we assemble evidence from ichthyologists, palaeontologists and developmental biologists to consider these issues. Vertebral arch elements were present in early stem vertebrates, whereas centra arose later. We argue that centra are homologous among jawed vertebrates, and review evidence in teleosts that the notochord plays an instructive role in segmental patterning, alongside the somites, and contributes to mineralization. By clarifying the evolutionary relationship between centra and arches, and their varying modes of skeletal mineralization, we can better appreciate the detailed mechanisms that regulate and diversify vertebral patterning. PMID:25968309

  2. Rare Upper Airway Anomalies.

    PubMed

    Windsor, Alanna; Clemmens, Clarice; Jacobs, Ian N

    2016-01-01

    A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical presentation, diagnosis, and management strategies for a few select, rare congenital malformations of this system. The diagnostic tools used in workup of these disorders range from prenatal tests to radiological imaging, swallowing evaluations, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other organ systems or may present as part of a syndrome. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including paediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists. PMID:26277452

  3. Genetics of lymphatic anomalies

    PubMed Central

    Brouillard, Pascal; Boon, Laurence; Vikkula, Miikka

    2014-01-01

    Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors. PMID:24590274

  4. Problems with six-point vertebral morphometry

    NASA Astrophysics Data System (ADS)

    Gardner, Jill C.; Yaffe, Laurence G.; Johansen, Jennifer M.; von Ingersleben, Gabriel; Chestnut, Charles H., III

    1998-06-01

    In this study we have examined errors in measurements of vertebral heights and vertebral area resulting from spin rotation and projection effects in x-ray images. Measurement errors were evaluated with phantom images, and simulated rotations of a 3D spine model. An active contour model (snake) was used for measurements of vertebral area. The model contained two pressure parameters which were needed to obtain good fits of the snake to upper and lower edges (endplates) of rotated vertebral bodies. Details of the snake model are included in this report. The results of this study indicate that six point vertebral morphometry can result to significant measurement errors, representing an overestimation of vertebral height and area, in cases showing projection effects and concealed endplate contours. In serial studies, such errors could produce the erroneous appearance of `growing' vertebral bodies. One can improve the accuracy of the morphometric analysis by using additional fiducial points placed on corresponding endplate contours. Additional useful information on fracture and vertebral deformity can be obtained by accurately tracking edge contours, using an active contour model, or comparable techniques.

  5. [Vertebral changes in histiocytosis x (author's transl)].

    PubMed

    Greinacher, I; Gutjahr, P

    1978-06-01

    Manifestations of histiocytosis X in the vertebral column occurred in 3 of 15 children. Pathological alterations showed a marked variability. Especially a vertebra plana should be considered as eosinophilic granuloma, until another cause is proven. Bone scans were positive in all three cases. Even in most severe cases with vertebral destruction neurological abnormalities were absent. PMID:308238

  6. Nolen-Schiffer anomaly

    SciTech Connect

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

    1995-08-01

    The Argonne v{sub 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 {sup 3}He-{sup 3}H system and cluster variational Monte Carlo for the {sup 15}O-{sup 15}N and {sup 17}F-{sup 17}O systems were made. In the first case, the best variational wave function for the A = 3 nuclei was used. However, because our {sup 16}O wave function does not reproduce accurately the {sup 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 {plus_minus} .001, 3.544 {plus_minus} .018 and 3.458 {plus_minus} .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. Nanotechnology for treating osteoporotic vertebral fractures

    PubMed Central

    Gao, Chunxia; Wei, Donglei; Yang, Huilin; Chen, Tao; Yang, Lei

    2015-01-01

    Osteoporosis is a serious public health problem affecting hundreds of millions of aged people worldwide, with severe consequences including vertebral fractures that are associated with significant morbidity and mortality. To augment or treat osteoporotic vertebral fractures, a number of surgical approaches including minimally invasive vertebroplasty and kyphoplasty have been developed. However, these approaches face problems and difficulties with efficacy and long-term stability. Recent advances and progress in nanotechnology are opening up new opportunities to improve the surgical procedures for treating osteoporotic vertebral fractures. This article reviews the improvements enabled by new nanomaterials and focuses on new injectable biomaterials like bone cements and surgical instruments for treating vertebral fractures. This article also provides an introduction to osteoporotic vertebral fractures and current clinical treatments, along with the rationale and efficacy of utilizing nanomaterials to modify and improve biomaterials or instruments. In addition, perspectives on future trends with injectable bone cements and surgical instruments enhanced by nanotechnology are provided. PMID:26316746

  8. Nanotechnology for treating osteoporotic vertebral fractures.

    PubMed

    Gao, Chunxia; Wei, Donglei; Yang, Huilin; Chen, Tao; Yang, Lei

    2015-01-01

    Osteoporosis is a serious public health problem affecting hundreds of millions of aged people worldwide, with severe consequences including vertebral fractures that are associated with significant morbidity and mortality. To augment or treat osteoporotic vertebral fractures, a number of surgical approaches including minimally invasive vertebroplasty and kyphoplasty have been developed. However, these approaches face problems and difficulties with efficacy and long-term stability. Recent advances and progress in nanotechnology are opening up new opportunities to improve the surgical procedures for treating osteoporotic vertebral fractures. This article reviews the improvements enabled by new nanomaterials and focuses on new injectable biomaterials like bone cements and surgical instruments for treating vertebral fractures. This article also provides an introduction to osteoporotic vertebral fractures and current clinical treatments, along with the rationale and efficacy of utilizing nanomaterials to modify and improve biomaterials or instruments. In addition, perspectives on future trends with injectable bone cements and surgical instruments enhanced by nanotechnology are provided. PMID:26316746

  9. Seismic data fusion anomaly detection

    NASA Astrophysics Data System (ADS)

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

    2014-06-01

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

  10. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  11. Medical management of vascular anomalies.

    PubMed

    Trenor, Cameron C

    2016-03-01

    We have entered an exciting era in the care of patients with vascular anomalies. These disorders require multidisciplinary care and coordination and dedicated centers have emerged to address this need. Vascular tumors have been treated with medical therapies for many years, while malformations have been historically treated with endovascular and operative procedures. The recent serendipitous discoveries of propranolol and sirolimus for vascular anomalies have revolutionized this field. In particular, sirolimus responses are challenging the dogma that vascular malformations are not biologically active. While initially explored for lymphatic anomalies, sirolimus is now being used broadly throughout the spectrum of vascular anomalies. Whether medical therapies are reserved for refractory patients or used first line is currently dependent on the experience and availability of alternative therapies at each institution. On the horizon, we anticipate new drugs targeting genes and pathways involved in vascular anomalies to be developed. Also, combinations of medications and protocols combining medical and procedural approaches are in development for refractory patients. PMID:27607327

  12. Posterior atlantoaxial screw-rod fixation in a case of aberrant vertebral artery course combined with bilateral high-riding vertebral artery.

    PubMed

    Park, Young Seop; Kang, Dong Ho; Park, Kyung Bum; Hwang, Soo Hyun

    2010-10-01

    We present a case of posterior atlantoaxial screw-rod fixation in a patient with an aberrant vertebral artery (VA) course combined with bilateral high-riding VA. An aberrant VA which courses below the posterior arch of the atlas (C1) that does not pass through the C1 transverse foramen and without an osseous anomaly is rare. However, it is important to consider an abnormal course of the VA both preoperatively and intraoperatively in order to avoid critical vascular injuries in procedures which require exposure or control of the VA, such as the far-lateral approach and spinal operations. PMID:21113368

  13. System for closure of a physical anomaly

    DOEpatents

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

    2014-11-11

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

  14. Mitotic chromosome condensation in vertebrates

    SciTech Connect

    Vagnarelli, Paola

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes of

  15. Rotations in a Vertebrate Setting

    NASA Astrophysics Data System (ADS)

    McCollum, Gin

    2003-05-01

    Rotational movements of the head are often considered to be measured in a single three dimensional coordinate system implemented by the semicircular canals of the vestibular system of the inner ear. However, the vertebrate body -- including the nervous system -- obeys rectangular symmetries alien to rotation groups. At best, nervous systems mimic the physical rotation group in a fragmented way, only partially reintegrating physical movements in whole organism responses. The vestibular canal reference frame is widely used in nervous systems, for example by eye movements. It is used to some extent even in the cerebrum, as evidenced by the remission of hemineglect -- in which half of space is ignored -- when the vestibular system is stimulated. However, reintegration of space by the organism remains incomplete. For example, compensatory eye movements (which in most cases aid visual fixation) may disagree with conscious self-motion perception. In addition, movement-induced nausea, illusions, and cue-free perceptions demonstrate symmetry breaking or incomplete spatial symmetries. As part of a long-term project to investigate rotation groups in nervous systems, we have analyzed the symmetry group of a primary vestibulo-spinal projection.

  16. Binning of satellite magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Goyal, H. K.; Vonfrese, R. R. B.; Hinze, W. J.

    1985-01-01

    Crustal magnetic anomaly signals over satellite orbits were simulated to investigate numerical averaging as an anomaly estimator. Averaging as an anomaly estimator involves significant problems concerning spatial and amplitude smoothing of the satellite magnetic observations. The results of simulations suggest that the error of numerical averaging constitutes a small and relatively minor component of the total error-budget of higher orbital anomaly estimates, whereas for lower orbital estimates numerical averaging error increases substantially. As an alternative to numerical averaging, least-squares collocation was investigated and observed to produce substantially more accurate anomaly estimates, particularly as the orbital elevation of prediction was decreased towards the crustal sources. In contrast to averaging, collocation is a significantly more resource-intensive procedure to apply because of the practical, but surmountable problems related to establishing and inverting the covariance matrix for accurate anomaly prediction. However, collocation may be much more effectively used to exploit the anomaly details contained in the lower orbital satellite magnetic data for geologic analysis.

  17. Reliability of CHAMP Anomaly Continuations

    NASA Technical Reports Server (NTRS)

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

    2003-01-01

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

  18. The "terminal Triassic catastrophic extinction event" in perspective: a review of carboniferous through Early Jurassic terrestrial vertebrate extinction patterns

    USGS Publications Warehouse

    Weems, R.E.

    1992-01-01

    A catastrophic terminal Triassic extinction event among terrestrial vertebrates is not supported by available evidence. The current model for such an extinction is based on at least eight weak or untenable assumptions: (1) a terminal Triassic extinction-inducing asteroid impact occurred, (2) a terminal Triassic synchronous mass extinction of terrestrial vertebrates occurred, (3) a concurrent terminal Triassic marine extinction occurred, (4) all terrestrial vertebrate families have similar diversities and ecologies, (5) changes in familial diversity can be gauged accurately from the known fossil record, (6) extinction of families can be compared through time without normalizing for changes in familial diversity through time, (7) extinction rates can be compared without normalizing for differing lengths of geologic stages, and (8) catastrophic mass extinctions do not select for small size. These assumptions have resulted in unsupportable and (or) erroneous conclusions. Carboniferous through Early Jurassic terrestrial vertebrate families mostly have evolution and extinction patterns unlike the vertebrate evolution and extinction patterns during the terminal Cretaceous event. Only the Serpukhovian (mid Carboniferous) extinction event shows strong analogy to the terminal Cretaceous event. Available data suggest no terminal Triassic extinction anomaly, but rather a prolonged and nearly steady decline in the global terrestrial vertebrate extinction rate throughout the Triassic and earliest Jurassic. ?? 1992.

  19. A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome

    PubMed Central

    Sasani, Hadi; Barlas, Sezgi Burçin; Mutlu, Ayhan; Sasani, Mehdi

    2016-01-01

    Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. In this article, we presented imaging findings of a 15-year-old female patient with KFS with a rare association of extraforaminal cranially ascending right VA that originated from the ipsilateral carotid bulb. Trifurcation of the carotid bulb with VA is a very unusual variation and to the best of our knowledge, right-sided one has not been reported in the literature. PMID:27390547

  20. Malformations of the vertebral bodies and the ribs associated to spinal dysraphism without spina bifida in a Pekingese dog.

    PubMed

    Ruberte, J; Añor, S; Carretero, A; Vilafranca, M; Navarro, M; Mascort, J; Pumarola, M

    1995-07-01

    A Pekingese dog with hemivertebrae, rib malformations and spinal cord dysraphism without spina bifida was presented. Two types of hemivertebrae were seen: bilateral and unilateral. Thoracic hemivertebrae were associated with fused ribs and rudimentary ribs. Spinal dysraphism consisted of polycavitary syringomyelia in the dorsal and lateral funiculi, hydromyelia and anomalies of the dorsal median septum and median fissure, associated to lumbar and sacral hemivertebrae. Cauda equina agenesia was also present. To conclude, the dog showed two malformations from different embryonic origins. Vertebral and rib malformations are of mesodermic origin and spinal dysraphism is of ectodermic origin. A possible common mechanism responsible for both anomalies is discussed. PMID:8578905

  1. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

    PubMed Central

    Farra, Chantal; Yunis, Khaled; Yazbeck, Nadine; Majdalani, Marianne; Charafeddine, Lama; Wakim, Rima; Awwad, Johnny

    2011-01-01

    Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder. PMID:23776370

  2. Update of vertebral cementoplasty in porotic patients

    PubMed Central

    Masala, Salvatore; Muto, Mario

    2015-01-01

    Vertebroplasty (VP) is a percutaneous mini-invasive technique developed in the late 1980s as antalgic and stabilizing treatment in patients affected by symptomatic vertebral fracture due to porotic disease, traumatic injury and primary or secondary vertebral spine tumors. The technique consists of a simple metameric injection of an inert cement (poly-methyl-methacrylate, PMMA), through a needle by trans-peduncular, parapeduncular or trans-somatic approach obtaining a vertebral augmentation and stabilization effect associated with pain relief. The technique is simple and fast, and should be performed under fluoroscopy or CT guidance in order to obtain a good result with low complication rate. The aim of this paper is to illustrate the utility of VP, the indications-contraindications criteria, how to technically perform the technique using imaging guidance, and the results and complications of this treatment in patients affected by symptomatic vertebral compression fracture. PMID:26015527

  3. Vertebrate eye development as modeled in Drosophila.

    PubMed

    Wawersik, S; Maas, R L

    2000-04-12

    Pax6, a member of the paired-box family of transcription factors, is critical for oculogenesis in both vertebrates and insects. Identification of potential vertebrate Pax6 targets has been guided by studies in Drosophila, where the Pax6 homologs eyeless ( ey ) and twin of eyeless ( toy ) function within a network of genes that synergistically pattern the developing fly eye. These targets, which share homology with the fly genes sine oculis, eyes absent and dachshund, exist in mice and humans as the Six, Eya and Dach gene families. Members of these gene families are present in the developing vertebrate eye, and preliminary studies suggest that they may function in a network analogous to that in the fly. Thus, despite radically different architecture, a similar molecular scaffold underlies both vertebrate and fly eye patterning, suggesting that the considerable power of Drosophila genetics can be harnessed to study mammalian ocular development. PMID:10767315

  4. Evolution of Herbivory in Terrestrial Vertebrates

    NASA Astrophysics Data System (ADS)

    Sues, Hans-Dieter

    2000-08-01

    Although herbivory probably first appeared over 300 million years ago, it only became established as a common feeding strategy during Late Permian times. Subsequently, herbivory evolved in numerous lineages of terrestrial vertebrates, and the acquisition of this mode of feeding was frequently associated with considerable evolutionary diversification in those lineages. This book represents a comprehensive overview of the evolution of herbivory in land-dwelling amniote tetrapods in recent years. In Evolution of Herbivory in Terrestrial Vertebrates, leading experts review the evolutionary history and structural adaptations required for feeding on plants in the major groups of land-dwelling vertebrates, especially dinosaurs and ungulate mammals. As such, this volume will be the definitive reference source on this topic for evolutionary biologists and vertebrate paleontologists.

  5. A Case of Aerococcus Urinae Vertebral Osteomyelitis

    PubMed Central

    Jerome, Michael; Slim, Jihad; Sison, Raymund; Marton, Randy

    2015-01-01

    Aerococcus urinae is an aerobic, alpha hemolytic gram positive coccus bacterium that grows in pairs or clusters. We report the first case of vertebral osteomyelitis due to A. urinae. This has not been previously reported in the literature. PMID:26069429

  6. RFamide Peptides in Early Vertebrate Development

    PubMed Central

    Sandvik, Guro Katrine; Hodne, Kjetil; Haug, Trude Marie; Okubo, Kataaki; Weltzien, Finn-Arne

    2014-01-01

    RFamides (RFa) are neuropeptides involved in many different physiological processes in vertebrates, such as reproductive behavior, pubertal activation of the reproductive endocrine axis, control of feeding behavior, and pain modulation. As research has focused mostly on their role in adult vertebrates, the possible roles of these peptides during development are poorly understood. However, the few studies that exist show that RFa are expressed early in development in different vertebrate classes, perhaps mostly associated with the central nervous system. Interestingly, the related peptide family of FMRFa has been shown to be important for brain development in invertebrates. In a teleost, the Japanese medaka, knockdown of genes in the Kiss system indicates that Kiss ligands and receptors are vital for brain development, but few other functional studies exist. Here, we review the literature of RFa in early vertebrate development, including the possible functional roles these peptides may play. PMID:25538682

  7. Sleep and orexins in nonmammalian vertebrates.

    PubMed

    Volkoff, Hélène

    2012-01-01

    Although a precise definition of "sleep" has yet to be established, sleep-like behaviors have been observed in all animals studied to date including mammals and nonmammalian vertebrates. Orexins are hypothalamic neuropeptides that are involved in the regulation of many physiological functions, including feeding, thermoregulation, cardiovascular control, as well as the control of the sleep-wakefulness cycle. To date, the knowledge on the functions of orexins in nonmammalian vertebrates is still limited, but the similarity of the structures of orexins and their receptors among vertebrates suggest that they have similar conserved physiological functions. This review describes our current knowledge on sleep in nonmammalian vertebrates (birds, reptiles, amphibians, and fish) and the possible role of orexins in the regulation of their energy homeostasis and arousal states. PMID:22640621

  8. Innate immunity in vertebrates: an overview.

    PubMed

    Riera Romo, Mario; Pérez-Martínez, Dayana; Castillo Ferrer, Camila

    2016-06-01

    Innate immunity is a semi-specific and widely distributed form of immunity, which represents the first line of defence against pathogens. This type of immunity is critical to maintain homeostasis and prevent microbe invasion, eliminating a great variety of pathogens and contributing with the activation of the adaptive immune response. The components of innate immunity include physical and chemical barriers, humoral and cell-mediated components, which are present in all jawed vertebrates. The understanding of innate defence mechanisms in non-mammalian vertebrates is the key to comprehend the general picture of vertebrate innate immunity and its evolutionary history. This is also essential for the identification of new molecules with applications in immunopharmacology and immunotherapy. In this review, we describe and discuss the main elements of vertebrate innate immunity, presenting core findings in this field and identifying areas that need further investigation. PMID:26878338

  9. [Vertebral osteomyelitis associated with epidural block].

    PubMed

    Carrillo Esper, R; Cruz-Bautista, I

    2001-01-01

    Infectious complications after epidural anesthesia are infrequent and the most common are epidural and subdural abscess. We report one rare case of vertebral osteomyelitus associated with an epidural catheter and review the literature. PMID:11381807

  10. Folate rescues lithium-, homocysteine- and Wnt3A-induced vertebrate cardiac anomalies

    PubMed Central

    Han, Mingda; Serrano, Maria C.; Lastra-Vicente, Rosana; Brinez, Pilar; Acharya, Ganesh; Huhta, James C.; Chen, Ren; Linask, Kersti K.

    2009-01-01

    SUMMARY Elevated plasma homocysteine (HCy), which results from folate (folic acid, FA) deficiency, and the mood-stabilizing drug lithium (Li) are both linked to the induction of human congenital heart and neural tube defects. We demonstrated previously that acute administration of Li to pregnant mice on embryonic day (E)6.75 induced cardiac valve defects by potentiating Wnt–β-catenin signaling. We hypothesized that HCy may similarly induce cardiac defects during gastrulation by targeting the Wnt–β-catenin pathway. Because dietary FA supplementation protects from neural tube defects, we sought to determine whether FA also protects the embryonic heart from Li- or HCy-induced birth defects and whether the protection occurs by impacting Wnt signaling. Maternal elevation of HCy or Li on E6.75 induced defective heart and placental function on E15.5, as identified non-invasively using echocardiography. This functional analysis of HCy-exposed mouse hearts revealed defects in tricuspid and semilunar valves, together with altered myocardial thickness. A smaller embryo and placental size was observed in the treated groups. FA supplementation ameliorates the observed developmental errors in the Li- or HCy-exposed mouse embryos and normalized heart function. Molecular analysis of gene expression within the avian cardiogenic crescent determined that Li, HCy or Wnt3A suppress Wnt-modulated Hex (also known as Hhex) and Islet-1 (also known as Isl1) expression, and that FA protects from the gene misexpression that is induced by all three factors. Furthermore, myoinositol with FA synergistically enhances the protective effect. Although the specific molecular epigenetic control mechanisms remain to be defined, it appears that Li or HCy induction and FA protection of cardiac defects involve intimate control of the canonical Wnt pathway at a crucial time preceding, and during, early heart organogenesis. PMID:19638421

  11. Folate rescues lithium-, homocysteine- and Wnt3A-induced vertebrate cardiac anomalies.

    PubMed

    Han, Mingda; Serrano, Maria C; Lastra-Vicente, Rosana; Brinez, Pilar; Acharya, Ganesh; Huhta, James C; Chen, Ren; Linask, Kersti K

    2009-01-01

    Elevated plasma homocysteine (HCy), which results from folate (folic acid, FA) deficiency, and the mood-stabilizing drug lithium (Li) are both linked to the induction of human congenital heart and neural tube defects. We demonstrated previously that acute administration of Li to pregnant mice on embryonic day (E)6.75 induced cardiac valve defects by potentiating Wnt-beta-catenin signaling. We hypothesized that HCy may similarly induce cardiac defects during gastrulation by targeting the Wnt-beta-catenin pathway. Because dietary FA supplementation protects from neural tube defects, we sought to determine whether FA also protects the embryonic heart from Li- or HCy-induced birth defects and whether the protection occurs by impacting Wnt signaling. Maternal elevation of HCy or Li on E6.75 induced defective heart and placental function on E15.5, as identified non-invasively using echocardiography. This functional analysis of HCy-exposed mouse hearts revealed defects in tricuspid and semilunar valves, together with altered myocardial thickness. A smaller embryo and placental size was observed in the treated groups. FA supplementation ameliorates the observed developmental errors in the Li- or HCy-exposed mouse embryos and normalized heart function. Molecular analysis of gene expression within the avian cardiogenic crescent determined that Li, HCy or Wnt3A suppress Wnt-modulated Hex (also known as Hhex) and Islet-1 (also known as Isl1) expression, and that FA protects from the gene misexpression that is induced by all three factors. Furthermore, myoinositol with FA synergistically enhances the protective effect. Although the specific molecular epigenetic control mechanisms remain to be defined, it appears that Li or HCy induction and FA protection of cardiac defects involve intimate control of the canonical Wnt pathway at a crucial time preceding, and during, early heart organogenesis. PMID:19638421

  12. Recombination Drives Vertebrate Genome Contraction

    PubMed Central

    Nam, Kiwoong; Ellegren, Hans

    2012-01-01

    Selective and/or neutral processes may govern variation in DNA content and, ultimately, genome size. The observation in several organisms of a negative correlation between recombination rate and intron size could be compatible with a neutral model in which recombination is mutagenic for length changes. We used whole-genome data on small insertions and deletions within transposable elements from chicken and zebra finch to demonstrate clear links between recombination rate and a number of attributes of reduced DNA content. Recombination rate was negatively correlated with the length of introns, transposable elements, and intergenic spacer and with the rate of short insertions. Importantly, it was positively correlated with gene density, the rate of short deletions, the deletion bias, and the net change in sequence length. All these observations point at a pattern of more condensed genome structure in regions of high recombination. Based on the observed rates of small insertions and deletions and assuming that these rates are representative for the whole genome, we estimate that the genome of the most recent common ancestor of birds and lizards has lost nearly 20% of its DNA content up until the present. Expansion of transposable elements can counteract the effect of deletions in an equilibrium mutation model; however, since the activity of transposable elements has been low in the avian lineage, the deletion bias is likely to have had a significant effect on genome size evolution in dinosaurs and birds, contributing to the maintenance of a small genome. We also demonstrate that most of the observed correlations between recombination rate and genome contraction parameters are seen in the human genome, including for segregating indel polymorphisms. Our data are compatible with a neutral model in which recombination drives vertebrate genome size evolution and gives no direct support for a role of natural selection in this process. PMID:22570634

  13. Vertebrate Cells Express Protozoan Antigen after Hybridization

    NASA Astrophysics Data System (ADS)

    Crane, Mark St. J.; Dvorak, James A.

    1980-04-01

    Epimastigotes, the invertebrate host stage of Trypanosoma cruzi, the protozoan parasite causing Chagas' disease in man, were fused with vertebrate cells by using polyethylene glycol. Hybrid cells were selected on the basis of T. cruzi DNA complementation of biochemical deficiencies in the vertebrate cells. Some clones of the hybrid cells expressed T. cruzi-specific antigen. It might be possible to use selected antigens obtained from the hybrids as vaccines for immunodiagnosis or for elucidation of the pathogenesis of Chagas' disease.

  14. Vertebral artery occlusion and oral contraceptives.

    PubMed Central

    Ask-Upmark, E; Bickerstaff, E R

    1976-01-01

    If vertebral artery occlusion occurs in degenerative arterial disease it is almost invariably left-sided, but in vertebral artery deficiency syndromes associated with oral contraceptives a striking preponderance of right-sided involvement has been shown. This observation adds support to the view that causes other than changes in the wall of the vessel at the site of occlusion must be sought as an explanation of the occlusion. PMID:1252812

  15. Cilia in vertebrate development and disease

    PubMed Central

    Oh, Edwin C.; Katsanis, Nicholas

    2012-01-01

    Through the combined study of model organisms, cell biology, cell signaling and medical genetics we have significantly increased our understanding of the structure and functions of the vertebrate cilium. This ancient organelle has now emerged as a crucial component of certain signaling and sensory perception pathways in both developmental and homeostatic contexts. Here, we provide a snapshot of the structure, function and distribution of the vertebrate cilium and of the pathologies that are associated with its dysfunction. PMID:22223675

  16. Cervical vertebral fusion with anterior meningocele

    PubMed Central

    Chavredakis, Emmanuel; Carter, David; Bhojak, Manesh; Jenkinson, Michael D; Clark, Simon R

    2015-01-01

    We present the first described case of cervical vertebral fusion associated with anterior meningocele and syringomyelia. A 45-year-old woman presented with minor trauma, and plain cervical spine radiographs highlighted a congenital deformity of the cervical vertebral bodies. She had a normal neurological examination; however, further imaging revealed a meningocele and syringomyelia. This case highlights the importance of thorough imaging investigation when presented with a congenital deformity in order to detect and prevent development of degenerative spinal cord pathologies. PMID:25923673

  17. Percutaneous Vertebral Body Augmentation: An Updated Review

    PubMed Central

    Omidi-Kashani, Farzad

    2014-01-01

    There are many medical conditions like osteoporosis, tumor, or osteonecrosis that weaken the structural strength of the vertebral body and prone it to fracture. Percutaneous vertebral augmentation that is usually applied by polymethylmethacrylate is a relatively safe, effective, and long lasting procedure commonly performed in these situations. In this paper, we updated a review of biomechanics, indications, contraindications, surgical techniques, complications, and overall prognosis of these minimally invasive spinal procedures. PMID:25379561

  18. Risk factors for vertebral deformities in men: relationship to number of vertebral deformities. European Vertebral Osteoporosis Study Group.

    PubMed

    Ismail, A A; O'Neill, T W; Cooper, C; Silman, A J

    2000-02-01

    Recent epidemiological studies suggest a similar overall prevalence of vertebral deformity in men to that in women, though the influence of increasing age on the prevalence of vertebral deformity is less marked in men. However, most affected men have only a single or two vertebral deformities, which may be unrelated to osteoporosis. The aim of this study was to examine the role of risk factors, previously demonstrated to be associated with vertebral osteoporosis in females, in men with single/dual deformities compared to those with multiple deformities. Age stratified random samples of men aged 50 years and over were recruited from population registers in 30 European centers as part of the European Vertebral Osteoporosis Study (EVOS). Subjects had a lateral spinal radiograph and the presence of vertebral deformity was determined using the McCloskey algorithm. Lifestyle and other risk factor data were obtained from an interviewer-administered questionnaire. In all 6937 men with a mean age of 64.4 (SD = 8.5) years were studied of whom 738 (10.6%) subjects had one or two deformities, and 109 (1.6%) subjects had three or more deformities. There was a marked increase in the prevalence of multiple vertebral deformities with increasing age, but only a modest effect of age on the prevalence of single deformities. Associations between various risk factors for osteoporosis and vertebral deformity were analyzed separately in men with single/dual vertebral deformity from those with three or more deformities using logistic regression. After adjustment for age, there were statistically significant associations between the following risk factors and multiple deformities: previous hip fracture (odds ratio [OR] 10.5), lack of regular physical activity (OR 2.9), low body mass (OR 2.5), and previous steroid use (OR 2.3). By contrast, there were only weak associations with these same variables in males with single/dual deformities and, apart from poor self-reported general health, all

  19. Genetics Home Reference: Peters anomaly

    MedlinePlus

    ... the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the ... anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to ...

  20. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  1. Evolution and development of the vertebrate neck

    PubMed Central

    Ericsson, Rolf; Knight, Robert; Johanson, Zerina

    2013-01-01

    Muscles of the vertebrate neck include the cucullaris and hypobranchials. Although a functional neck first evolved in the lobe-finned fishes (Sarcopterygii) with the separation of the pectoral/shoulder girdle from the skull, the neck muscles themselves have a much earlier origin among the vertebrates. For example, lampreys possess hypobranchial muscles, and may also possess the cucullaris. Recent research in chick has established that these two muscles groups have different origins, the hypobranchial muscles having a somitic origin but the cucullaris muscle deriving from anterior lateral plate mesoderm associated with somites 1–3. Additionally, the cucullaris utilizes genetic pathways more similar to the head than the trunk musculature. Although the latter results are from experiments in the chick, cucullaris homologues occur in a variety of more basal vertebrates such as the sharks and zebrafish. Data are urgently needed from these taxa to determine whether the cucullaris in these groups also derives from lateral plate mesoderm or from the anterior somites, and whether the former or the latter represent the basal vertebrate condition. Other lateral plate mesoderm derivatives include the appendicular skeleton (fins, limbs and supporting girdles). If the cucullaris is a definitive lateral plate-derived structure it may have evolved in conjunction with the shoulder/limb skeleton in vertebrates and thereby provided a greater degree of flexibility to the heads of predatory vertebrates. PMID:22697305

  2. Satellite elevation magnetic anomaly maps

    NASA Technical Reports Server (NTRS)

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

    1982-01-01

    The problem of inverting 2 deg average MAGSAT scalar anomalies for the region 80 W, 60 E longitude and 40 S, 70 N latitude was attempted on the LARS computer; however, the effort was aborted due to insufficient allocation of CPU-time. This problem is currently being resubmitted and should be implemented shortly for quantitative comparison with free-air gravity anomaly, geothermal, and tectonic data.

  3. Aeromagnetic anomalies over faulted strata

    USGS Publications Warehouse

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

    2011-01-01

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

  4. Overgrowth syndromes with vascular anomalies.

    PubMed

    Blei, Francine

    2015-04-01

    Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. PMID:25937473

  5. Toward Baseline Software Anomalies in NASA Missions

    NASA Technical Reports Server (NTRS)

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

    2012-01-01

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

  6. MAGSAT anomaly map and continental drift

    NASA Technical Reports Server (NTRS)

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

    1981-01-01

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

  7. Non-relativistic scale anomalies

    NASA Astrophysics Data System (ADS)

    Arav, Igal; Chapman, Shira; Oz, Yaron

    2016-06-01

    We extend the cohomological analysis in arXiv:1410.5831 of anisotropic Lifshitz scale anomalies. We consider non-relativistic theories with a dynamical critical exponent z = 2 with or without non-relativistic boosts and a particle number symmetry. We distinguish between cases depending on whether the time direction does or does not induce a foliation structure. We analyse both 1 + 1 and 2 + 1 spacetime dimensions. In 1 + 1 dimensions we find no scale anomalies with Galilean boost symmetries. The anomalies in 2 + 1 dimensions with Galilean boosts and a foliation structure are all B-type and are identical to the Lifshitz case in the purely spatial sector. With Galilean boosts and without a foliation structure we find also an A-type scale anomaly. There is an infinite ladder of B-type anomalies in the absence of a foliation structure with or without Galilean boosts. We discuss the relation between the existence of a foliation structure and the causality of the field theory.

  8. Experimental Anomalies in Neutrino Physics

    NASA Astrophysics Data System (ADS)

    Palamara, Ornella

    2014-03-01

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

  9. Developmental mechanisms of vertebrate limb evolution.

    PubMed

    Cohn, M J

    2001-01-01

    Over the past few years, our understanding of the evolution of limbs has been improved by important new discoveries in the fossil record. Additionally, rapid progress has been made in identifying the molecular basis of vertebrate limb development. It is now possible to integrate these two areas of research in order to identify the molecular developmental mechanisms underlying the evolution of paired appendages in vertebrates. After the origin of paired appendages, several vertebrate lineages reduced or eliminated fins and limbs and returned to the limbless condition. Examples include eels, caecilians, snakes, slow worms and several marine mammals. Analyses of fossil and extant vertebrates show that evolution of limblessness frequently occurred together with elongation of the trunk and loss of clear morphological boundaries in the vertebral column. This may be suggestive of a common developmental mechanism linking these two processes. We have addressed this question by analysing python embryonic development at tissue, cellular and molecular levels, and we have identified a developmental mechanism which may account for evolution of limb loss in these animals. PMID:11277086

  10. Measuring anomaly with algorithmic entropy

    NASA Astrophysics Data System (ADS)

    Solano, Wanda M.

    Anomaly detection refers to the identification of observations that are considered outside of normal. Since they are unknown to the system prior to training and rare, the anomaly detection problem is particularly challenging. Model based techniques require large quantities of existing data are to build the model. Statistically based techniques result in the use of statistical metrics or thresholds for determining whether a particular observation is anomalous. I propose a novel approach to anomaly detection using wavelet based algorithmic entropy that does not require modeling or large amounts of data. My method embodies the concept of information distance that rests on the fact that data encodes information. This distance is large when little information is shared, and small when there is greater information sharing. I compare my approach with several techniques in the literature using data obtained from testing of NASA's Space Shuttle Main Engines (SSME)

  11. Spacecraft environmental anomalies expert system

    NASA Technical Reports Server (NTRS)

    Koons, H. C.; Gorney, D. J.

    1988-01-01

    A microcomputer-based expert system is being developed at the Aerospace Corporation Space Sciences Laboratory to assist in the diagnosis of satellite anomalies caused by the space environment. The expert system is designed to address anomalies caused by surface charging, bulk charging, single event effects and total radiation dose. These effects depend on the orbit of the satellite, the local environment (which is highly variable), the satellite exposure time and the hardness of the circuits and components of the satellite. The expert system is a rule-based system that uses the Texas Instruments Personal Consultant Plus expert system shell. The completed expert system knowledge base will include 150 to 200 rules, as well as a spacecraft attributes database, an historical spacecraft anomalies database, and a space environment database which is updated in near real-time. Currently, the expert system is undergoing development and testing within the Aerospace Corporation Space Sciences Laboratory.

  12. Boundary terms of conformal anomaly

    NASA Astrophysics Data System (ADS)

    Solodukhin, Sergey N.

    2016-01-01

    We analyze the structure of the boundary terms in the conformal anomaly integrated over a manifold with boundaries. We suggest that the anomalies of type B, polynomial in the Weyl tensor, are accompanied with the respective boundary terms of the Gibbons-Hawking type. Their form is dictated by the requirement that they produce a variation which compensates the normal derivatives of the metric variation on the boundary in order to have a well-defined variational procedure. This suggestion agrees with recent findings in four dimensions for free fields of various spins. We generalize this consideration to six dimensions and derive explicitly the respective boundary terms. We point out that the integrated conformal anomaly in odd dimensions is non-vanishing due to the boundary terms. These terms are specified in three and five dimensions.

  13. Graph anomalies in cyber communications

    SciTech Connect

    Vander Wiel, Scott A; Storlie, Curtis B; Sandine, Gary; Hagberg, Aric A; Fisk, Michael

    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.

  14. Computer Based Assessment of Cervical Vertebral Maturation Stages Using Digital Lateral Cephalograms

    PubMed Central

    Dzemidzic, Vildana; Sokic, Emir; Tiro, Alisa; Nakas, Enita

    2015-01-01

    Objective: This study was aimed to investigate the reliability of a computer application for assessment of the stages of cervical vertebra maturation in order to determine the stage of skeletal maturity. Material and methods: For this study, digital lateral cephalograms of 99 subjects (52 females and 47 males) were examined. The following selection criteria were used during the sample composition: age between 9 and 16 years, absence of anomalies of the vertebrae, good general health, no history of trauma at the cervical region. Subjects with lateral cephalograms of low quality were excluded from the study. For the purpose of this study a computer application Cephalometar HF V1 was developed. This application was used to mark the contours of the second, third and fourth cervical vertebrae on the digital lateral cephalograms, which enabled a computer to determine the stage of cervical vertebral maturation. The assessment of the stages of cervical vertebral maturation was carried out by an experienced orthodontist. The assessment was conducted according to the principles of the method proposed by authors Hassel and Farman. The degree of the agreement between the computer application and the researcher was analyzed using by statistical Cohen Kappa test. Results: The results of this study showed the agreement between the computer assessment and the researcher assessment of the cervical vertebral maturation stages, where the value of the Cohen Kappa coefficient was 0.985. Conclusion: The computer application Cephalometar HF V1 proved to be a reliable method for assessing the stages of cervical vertebral maturation. This program could help the orthodontists to identify the stage of cervical vertebral maturation when planning the orthodontic treatment for the patients with skeletal disharmonies. PMID:26862247

  15. Branchial Anomalies: Diagnosis and Management

    PubMed Central

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

    2014-01-01

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

  16. The vertebral column of Australopithecus sediba.

    PubMed

    Williams, Scott A; Ostrofsky, Kelly R; Frater, Nakita; Churchill, Steven E; Schmid, Peter; Berger, Lee R

    2013-04-12

    Two partial vertebral columns of Australopithecus sediba grant insight into aspects of early hominin spinal mobility, lumbar curvature, vertebral formula, and transitional vertebra position. Au. sediba likely possessed five non-rib-bearing lumbar vertebrae and five sacral elements, the same configuration that occurs modally in modern humans. This finding contrasts with other interpretations of early hominin regional vertebral numbers. Importantly, the transitional vertebra is distinct from and above the last rib-bearing vertebra in Au. sediba, resulting in a functionally longer lower back. This configuration, along with a strongly wedged last lumbar vertebra and other indicators of lordotic posture, would have contributed to a highly flexible spine that is derived compared with earlier members of the genus Australopithecus and similar to that of the Nariokotome Homo erectus skeleton. PMID:23580532

  17. The origin of the vertebrate skeleton

    NASA Astrophysics Data System (ADS)

    Pivar, Stuart

    2011-01-01

    The anatomy of the human and other vertebrates has been well described since the days of Leonardo da Vinci and Vesalius. The causative origin of the configuration of the bones and of their shapes and forms has been addressed over the ensuing centuries by such outstanding investigators as Goethe, Von Baer, Gegenbauer, Wilhelm His and D'Arcy Thompson, who sought to apply mechanical principles to morphogenesis. However, no coherent causative model of morphogenesis has ever been presented. This paper presents a causative model for the origin of the vertebrate skeleton, based on the premise that the body is a mosaic enlargement of self-organized patterns engrained in the membrane of the egg cell. Drawings illustrate the proposed hypothetical origin of membrane patterning and the changes in the hydrostatic equilibrium of the cytoplasm that cause topographical deformations resulting in the vertebrate body form.

  18. Chitin is endogenously produced in vertebrates

    PubMed Central

    Sohn, Joel J.; Amemiya, Chris T.

    2015-01-01

    Chitin, a biopolymer of N-acetylglucosamine, is abundant in invertebrates and fungi, and is an important structural molecule. There has been a longstanding belief that vertebrates do not produce chitin, however, we have obtained compelling evidence to the contrary. Chitin synthase genes are present in numerous fishes and amphibians, and chitin is localized in situ to the lumen of the developing zebrafish gut, in epithelial cells of fish scales, and in at least three different cell types in larval salamander appendages. Chitin synthase gene knockdowns and various histochemical experiments in zebrafish further authenticated our results. Finally, a polysaccharide was extracted from scales of salmon that exhibited all the chemical hallmarks of chitin. Our data and analyses demonstrate the existence of endogenous chitin in vertebrates and suggest that it serves multiple roles in vertebrate biology. PMID:25772447

  19. Three Distinct Glutamate Decarboxylase Genes in Vertebrates

    PubMed Central

    Grone, Brian P.; Maruska, Karen P.

    2016-01-01

    Gamma-aminobutyric acid (GABA) is a widely conserved signaling molecule that in animals has been adapted as a neurotransmitter. GABA is synthesized from the amino acid glutamate by the action of glutamate decarboxylases (GADs). Two vertebrate genes, GAD1 and GAD2, encode distinct GAD proteins: GAD67 and GAD65, respectively. We have identified a third vertebrate GAD gene, GAD3. This gene is conserved in fishes as well as tetrapods. We analyzed protein sequence, gene structure, synteny, and phylogenetics to identify GAD3 as a homolog of GAD1 and GAD2. Interestingly, we found that GAD3 was lost in the hominid lineage. Because of the importance of GABA as a neurotransmitter, GAD3 may play important roles in vertebrate nervous systems. PMID:27461130

  20. [Amphioxus: how to become a vertebrate].

    PubMed

    Bertrand, Stéphanie; Camasses, Alain; Escriva, Hector

    2007-01-01

    Evo-devo is a young disciplin, which aims to explain the morphological evolution of organisms through developmental mechanisms and genes networks. A major question within this discipline is the origin of vertebrates. It seems now admitted that vertebrates derive from an invertebrate chordate ancestor. Several models among living chordate representatives are used today to answer this question. The small world of evo-evo interested in the emergence of vertebrates is ebullient about the advent of several totally sequenced genomes allowing comparative analyses to become evermore reliable. Furthermore "non classical" models are developed which can be submitted to refined developmental analysis. One of these is amphioxus (genus Branchyostoma), "a peaceful anchory fillet to illuminate chordate evolution" (Garcia-Fernandez, 2006a, b). The features of this model are described in this review. PMID:17762824

  1. Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement.

    PubMed

    Gaerty, Kirsten; Thomas, Joseph T; Petersen, Scott; Tan, Edwin; Kumar, Sailesh; Gardener, Glenn; Armes, Jane

    2016-01-01

    An unusual anatomic configuration of segmental tracheal agenesis/atresia with esophageal duplication on autopsy in a fetus that demised in utero at 29 weeks is reported. The mother was scanned initially for a cardiac anomaly at 20 weeks and on follow-up scan at 27 weeks had polyhydramnios and underwent amnioreduction. The final autopsy diagnosis was vertebral, ano-rectal, cardiac, tracheoesophageal, renal, and limb malformations (VACTERL). We discuss the autopsy findings along with the embryological mechanisms and compare the configuration with Floyd's classification for tracheal agenesis. The difficulties in prenatal diagnosis are discussed. PMID:26367770

  2. Genetic basis for vascular anomalies.

    PubMed

    Kirkorian, A Yasmine; Grossberg, Anna L; Püttgen, Katherine B

    2016-03-01

    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. PMID:27607321

  3. Boundary anomalies and correlation functions

    NASA Astrophysics Data System (ADS)

    Huang, Kuo-Wei

    2016-08-01

    It was shown recently that boundary terms of conformal anomalies recover the universal contribution to the entanglement entropy and also play an important role in the boundary monotonicity theorem of odd-dimensional quantum field theories. Motivated by these results, we investigate relationships between boundary anomalies and the stress tensor correlation functions in conformal field theories. In particular, we focus on how the conformal Ward identity and the renormalization group equation are modified by boundary central charges. Renormalized stress tensors induced by boundary Weyl invariants are also discussed, with examples in spherical and cylindrical geometries.

  4. The evolution of early vertebrate photoreceptors

    PubMed Central

    Collin, Shaun P.; Davies, Wayne L.; Hart, Nathan S.; Hunt, David M.

    2009-01-01

    Meeting the challenge of sampling an ancient aquatic landscape by the early vertebrates was crucial to their survival and would establish a retinal bauplan to be used by all subsequent vertebrate descendents. Image-forming eyes were under tremendous selection pressure and the ability to identify suitable prey and detect potential predators was thought to be one of the major drivers of speciation in the Early Cambrian. Based on the fossil record, we know that hagfishes, lampreys, holocephalans, elasmobranchs and lungfishes occupy critical stages in vertebrate evolution, having remained relatively unchanged over hundreds of millions of years. Now using extant representatives of these ‘living fossils’, we are able to piece together the evolution of vertebrate photoreception. While photoreception in hagfishes appears to be based on light detection and controlling circadian rhythms, rather than image formation, the photoreceptors of lampreys fall into five distinct classes and represent a critical stage in the dichotomy of rods and cones. At least four types of retinal cones sample the visual environment in lampreys mediating photopic (and potentially colour) vision, a sampling strategy retained by lungfishes, some modern teleosts, reptiles and birds. Trichromacy is retained in cartilaginous fishes (at least in batoids and holocephalans), where it is predicted that true scotopic (dim light) vision evolved in the common ancestor of all living gnathostomes. The capacity to discriminate colour and balance the tradeoff between resolution and sensitivity in the early vertebrates was an important driver of eye evolution, where many of the ocular features evolved were retained as vertebrates progressed on to land. PMID:19720654

  5. Pediatric congenital vertebral artery arteriovenous malformation.

    PubMed

    Shownkeen, Harish; Bova, Davide; Chenelle, Andrew G; Origitano, Thomas C

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. PMID:12695869

  6. Percutaneous vertebral augmentation for painful osteolytic vertebral metastasis: a case report

    PubMed Central

    Anselmetti, Giovanni C; Tutton, Sean M; Facchini, Francis R; Miller, Larry E; Block, Jon E

    2012-01-01

    Introduction Vertebral metastases are associated with significant pain, disability, and morbidity. Open surgery for fracture stabilization is often inappropriate in this population due to a poor risk-benefit profile, particularly if life expectancy is short. Percutaneous vertebroplasty and kyphoplasty are appealing adjunctive procedures in patients with malignancy for alleviation of intractable pain. However, these patients have higher risk of serious complications, notably cement extravasation. Described in this report is a case of a painful osteolytic vertebral metastasis that was successfully treated by a novel percutaneous vertebral augmentation system. Case presentation A 42-year-old Caucasian female presented with a history of metastatic lung cancer unresponsive to radiation and chemotherapy with symptoms inadequately controlled by opiates over the previous 6 months. Magnetic resonance imaging and spiral computed tomography with two-dimensional reconstruction showed an osteolytic vertebral metastasis with complete involvement of the T10 vertebral body, extending to the cortical vertebral wall anteriorly and posteriorly. The patient was treated with percutaneous vertebral augmentation (Kiva® VCF Treatment System, Benvenue Medical, Inc, Santa Clara, CA) utilizing a novel coil-shaped polyetheretherketone implant designed to minimize the risk of cement extravasation. After the minimally invasive procedure, bone cement distribution within the vertebral body was ideal, with no observed cement extravasation. No complications were reported, pain completely resolved within 24 hours, and use of intravenous narcotics was progressively diminished within 1 week. Complete pain relief was maintained throughout 4 months of follow-up. Conclusion The Kiva System represents a novel and effective minimally invasive treatment option for patients suffering from severe pain due to osteolytic vertebral metastasis. PMID:23754917

  7. Numerical anomalies mimicking physical effects

    NASA Astrophysics Data System (ADS)

    Menikoff, R.

    Numerical simulations of flows with shock waves typically use finite-difference shock-capturing algorithms. These algorithms give a shock a numerical width in order to generate the entropy increase that must occur across a shock wave. For algorithms in conservation form, steady-state shock waves are insensitive to the numerical dissipation because of the Hugoniot jump conditions. However, localized numerical errors occur when shock waves interact. Examples are the 'excess wall heating' in the Noh problem (shock reflected from rigid wall), errors when a shock impacts a material interface or an abrupt change in mesh spacing, and the start-up error from initializing a shock as a discontinuity. This class of anomalies can be explained by the entropy generation that occurs in the transient flow when a shock profile is formed or changed. The entropy error is localized spatially but under mesh refinement does not decrease in magnitude. Similar effects have been observed in shock tube experiments with partly dispersed shock waves. In this case, the shock has a physical width due to a relaxation process. An entropy anomaly from a transient shock interaction is inherent in the structure of the conservation equations for fluid flow. The anomaly can be expected to occur whenever heat conduction can be neglected and a shock wave has a non-zero width, whether the width is physical or numerical. Thus, the numerical anomaly from an artificial shock width mimics a real physical effect.

  8. Thermal anomalies in stressed Teflon.

    NASA Technical Reports Server (NTRS)

    Lee, S. H.; Wulff, C. A.

    1972-01-01

    In the course of testing polytetrafluoroethylene (Teflon) as a calorimetric gasketing material, serendipity revealed a thermal anomaly in stressed film that occurs concomitantly with the well-documented 25 C transition. The magnitude of the excess energy absorption - about 35 cal/g - is suggested to be related to the restricted thermal expansion of the film.

  9. Coral can have growth anomalies

    EPA Science Inventory

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

  10. Observational manifestations of anomaly inflow

    SciTech Connect

    Boyarsky, Alexey; Shaposhnikov, Mikhail

    2005-10-15

    In theories with chiral couplings, one of the important consistency requirements is that of the cancellation of a gauge anomaly. In particular, this is one of the conditions imposed on the hypercharges in the standard model. However, anomaly cancellation condition of the standard model looks unnatural from the perspective of a theory with extra dimensions. Indeed, if our world were embedded into an odd-dimensional space, then the full theory would be automatically anomaly-free. In this paper we discuss the physical consequences of anomaly noncancellation for effective 4-dimensional field theory. We demonstrate that in such a theory parallel electric and magnetic fields get modified. In particular, this happens for any particle possessing both electric charge and magnetic moment. This effect, if observed, can serve as a low energy signature of extra dimensions. On the other hand, if such an effect is absent or is very small, then from the point of view of any theory with extra dimensions it is just another fine-tuning and should acquire theoretical explanation.

  11. Vertebral Osteomyelitis Caused by Helicobacter cinaedi

    PubMed Central

    Yoshizaki, Aisa; Takegawa, Hiroshi; Doi, Asako; Mizuno, Yasushi

    2015-01-01

    Helicobacter cinaedi causes bacteremia, cellulitis, and gastroenteritis. We report the first case of vertebral osteomyelitis caused by H. cinaedi in an elderly man with low back pain and fever. The pathogen was detected in blood and lumbar disc, and the infection was successfully treated with oral doxycycline for 11 weeks. PMID:26109448

  12. A Cambrian origin for vertebrate rods

    PubMed Central

    Asteriti, Sabrina; Grillner, Sten; Cangiano, Lorenzo

    2015-01-01

    Vertebrates acquired dim-light vision when an ancestral cone evolved into the rod photoreceptor at an unknown stage preceding the last common ancestor of extant jawed vertebrates (∼420 million years ago Ma). The jawless lampreys provide a unique opportunity to constrain the timing of this advance, as their line diverged ∼505 Ma and later displayed high-morphological stability. We recorded with patch electrodes the inner segment photovoltages and with suction electrodes the outer segment photocurrents of Lampetra fluviatilis retinal photoreceptors. Several key functional features of jawed vertebrate rods are present in their phylogenetically homologous photoreceptors in lamprey: crucially, the efficient amplification of the effect of single photons, measured by multiple parameters, and the flow of rod signals into cones. These results make convergent evolution in the jawless and jawed vertebrate lines unlikely and indicate an early origin of rods, implying strong selective pressure toward dim-light vision in Cambrian ecosystems. DOI: http://dx.doi.org/10.7554/eLife.07166.001 PMID:26095697

  13. Diagnosis and Management of Vertebral Compression Fractures.

    PubMed

    McCarthy, Jason; Davis, Amy

    2016-07-01

    Vertebral compression fractures (VCFs) are the most common complication of osteoporosis, affecting more than 700,000 Americans annually. Fracture risk increases with age, with four in 10 white women older than 50 years experiencing a hip, spine, or vertebral fracture in their lifetime. VCFs can lead to chronic pain, disfigurement, height loss, impaired activities of daily living, increased risk of pressure sores, pneumonia, and psychological distress. Patients with an acute VCF may report abrupt onset of back pain with position changes, coughing, sneezing, or lifting. Physical examination findings are often normal, but can demonstrate kyphosis and midline spine tenderness. More than two-thirds of patients are asymptomatic and diagnosed incidentally on plain radiography. Acute VCFs may be treated with analgesics such as acetaminophen, nonsteroidal anti-inflammatory drugs, narcotics, and calcitonin. Physicians must be mindful of medication adverse effects in older patients. Other conservative therapeutic options include limited bed rest, bracing, physical therapy, nerve root blocks, and epidural injections. Percutaneous vertebral augmentation, including vertebroplasty and kyphoplasty, is controversial, but can be considered in patients with inadequate pain relief with nonsurgical care or when persistent pain substantially affects quality of life. Family physicians can help prevent vertebral fractures through management of risk factors and the treatment of osteoporosis. PMID:27386723

  14. Transposon-mediated Genome Manipulations in Vertebrates

    PubMed Central

    Ivics, Zoltán; Li, Meng Amy; Mátés, Lajos; Boeke, Jef D.; Bradley, Allan; Izsvák, Zsuzsanna

    2010-01-01

    Transposable elements are segments of DNA with the unique ability to move about in the genome. This inherent feature can be exploited to harness these elements as gene vectors for diverse genome manipulations. Transposon-based genetic strategies have been established in vertebrate species over the last decade, and current progress in this field indicates that transposable elements will serve as indispensable tools in the genetic toolkit of vertebrate models. In particular, transposons can be applied as vectors for somatic and germline transgenesis, and as insertional mutagens in both loss-of-function and gain-of-function forward mutagenesis screens. The major advantage of using transposons as genetic tools is that they facilitate analysis of gene function in an easy, controlled and scalable manner. Transposon-based technologies are beginning to be exploited to link sequence information to gene functions in vertebrate models. In this article, we provide an overview of transposon-based methods used in vertebrate model organisms, and highlight the most important considerations concerning genetic applications of the transposon systems. PMID:19478801

  15. Pleistocene vertebrates of the Yukon Territory

    NASA Astrophysics Data System (ADS)

    Harington, C. R.

    2011-08-01

    Unglaciated parts of the Yukon constitute one of the most important areas in North America for yielding Pleistocene vertebrate fossils. Nearly 30 vertebrate faunal localities are reviewed spanning a period of about 1.6 Ma (million years ago) to the close of the Pleistocene some 10 000 BP (radiocarbon years before present, taken as 1950). The vertebrate fossils represent at least 8 species of fishes, 1 amphibian, 41 species of birds and 83 species of mammals. Dominant among the large mammals are: steppe bison ( Bison priscus), horse ( Equus sp.), woolly mammoth ( Mammuthus primigenius), and caribou ( Rangifer tarandus) - signature species of the Mammoth Steppe fauna ( Fig. 1), which was widespread from the British Isles, through northern Europe, and Siberia to Alaska, Yukon and adjacent Northwest Territories. The Yukon faunas extend from Herschel Island in the north to Revenue Creek in the south and from the Alaskan border in the west to Ketza River in the east. The Yukon holds evidence of the earliest-known people in North America. Artifacts made from bison, mammoth and caribou bones from Bluefish Caves, Old Crow Basin and Dawson City areas show that people had a substantial knowledge of making and using bone tools at least by 25 000 BP, and possibly as early as 40 000 BP. A suggested chronological sequence of Yukon Pleistocene vertebrates ( Table 1) facilitates comparison of selected faunas and indicates the known duration of various taxa.

  16. Vertebral osteomyelitis combined streptococcal viridans endocarditis.

    PubMed

    Lee, Kuo-Chen; Tsai, Yi-Ting; Lin, Chih-Yuan; Tsai, Chien-Sung

    2003-01-01

    Endocarditis may be difficult to diagnose in patients with osteomyelitis in an early stage because they usually are treated for fever, bone pain and stiffness in the outpatient department. Herein we report an uncommon patient who developed severe lower back pain sustained for 2 months, and streptococcal viridans infected vertebral osteomyelitis combined endocarditis were diagnosed and cured. PMID:12493523

  17. Did Language Evolve Like the Vertebrate Eye?

    ERIC Educational Resources Information Center

    Botha, Rudolf P.

    2002-01-01

    Offers a critical appraisal of the way in which the idea that human language or some of its features evolved like the vertebrate eye by natural selection is articulated in Pinker and Bloom's (1990) selectionist account of language evolution. Argues that this account is less than insightful because it fails to draw some of the conceptual…

  18. A differential staining technique for vertebrate histology.

    PubMed

    Bhattacharyya, T K

    1979-03-01

    A staining method is described for studying micro-anatomy of different vertebrate tissues in the light microscope. A staining sequence of celestin blue--erythrosin--orange G--fast green with mordanting in phosphomolybdic acid yields a satisfactory differentiation and fine colour contrast in various tissues. The efficacy of the method was tested on different avian and mammalian tissues. PMID:86938

  19. Vertebrate Pest Control. Sale Publication 4077.

    ERIC Educational Resources Information Center

    Stimmann, M. W.; Clark, Dell O.

    This guide gives descriptions of common vertebrate pests and guidelines for using some common pesticides. The pests discussed are rats, mice, bats, moles, muskrats, ground squirrels, and gophers. Information is given for each pest on the type of damage the pest can do, the habitat and biology of the pest, and the most effective control methods.…

  20. Control of Vertebrate Pests of Agricultural Crops.

    ERIC Educational Resources Information Center

    Wingard, Robert G.; Studholme, Clinton R.

    This agriculture extension service publication of Pennsylvania State University discusses the damage from and control of vertebrate pests. Specific discussions describe the habits, habitat, and various control measures for blackbirds and crows, deer, meadow and pine mice, European starlings, and woodchucks. Where confusion with non-harmful species…

  1. Rare earth and trace elements of fossil vertebrate bioapatite as palaeoenvironmental and sedimentological proxies

    NASA Astrophysics Data System (ADS)

    Žigaitė, Živilė; Fadel, Alexandre; Pérez-Huerta, Alberto; Jeffries, Teresa

    2015-04-01

    Rare earth (REE) and trace element compositions of fossil vertebrate dental microremains have been studied in Silurian and Devonian vertebrate dental scales and spines in-situ, using laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS). Samples were selected from the well-known Silurian bone beds of Vesiku and Ohesaare in Saaremaa island of Estonia, and a number of Lower Devonian localities from Spitsbergen (Svalbard), Andrée Land group. Biomineral preservation was assessed using spot semi-quantitative elemental chemistry (SEM-EDS) and electron back-scatter difractometry (EBSD) for cristallinity imaging. The obtained PAAS shale-normalised REE concentrations were evaluated using basic geochemical calculations and quantifications. The REE patterns from the Lower Devonian vertebrate apatite from Andrée Land, Spitsbergen (Wood Bay and Grey Hœk formations) did not show any recognisable taxon-specific behavior, but had rather well expressed differences of REE compositions related to biomineral structure and sedimentary settings, suggesting REE instead to reflect burial environments and sedimentological history. The Eu anomaly recorded in two of the studied localities but not in the other indicate different taphonomic conditions and palaeoenvironment, while La/Sm, La/Yb ratios sugeest considerable influence of terrestrial freshwater during the early diagenesis. The La/Yb and La/Sm plots also agree with the average REE concentrations, reflecting domination of the adsoption over substitution as principal REE uptake mechanism in the fossils which had significantly lower overall REE concentrations, and vice versa. Vesiku (Homerian, Wenlock) microremains yielded very uniform REE patterns with slightly lower overall REE concentrations in enameloid than in dentine, with strong enrichment in middle REE and depletion in heavy REE. Negative Europium (Eu) anomaly was pronounced in all the profiles, but Cerium (Ce) anomalies were not detected suggesting possible

  2. Determination of vertebral pose in 3D by minimization of vertebral asymmetry

    NASA Astrophysics Data System (ADS)

    Vrtovec, Tomaž; Pernuš, Franjo; Likar, Boštjan

    2011-03-01

    The vertebral pose in three dimensions (3D) may provide valuable information for quantitative clinical measurements or aid the initialization of image analysis techniques. We propose a method for automated determination of the vertebral pose in 3D that, in an iterative registration scheme, estimates the position and rotation of the vertebral coordinate system in 3D images. By searching for the hypothetical points, which are located where the boundaries of anatomical structures would have maximal symmetrical correspondences when mirrored over the vertebral planes, the asymmetry of vertebral anatomical structures is minimized. The method was evaluated on 14 normal and 14 scoliotic vertebrae in images acquired by computed tomography (CT). For each vertebra, 1000 randomly initialized experiments were performed. The results show that the vertebral pose can be successfully determined in 3D with mean accuracy of 0.5mm and 0.6° and mean precision of 0.17mm and 0.17. according to the 3D position and 3D rotation, respectively.

  3. Anomaly constraints on monopoles and dyons

    SciTech Connect

    Csaki, Csaba; Shirman, Yuri; Terning, John

    2010-06-15

    Fermions with magnetic charges can contribute to anomalies. We derive the axial anomaly and gauge anomalies for monopoles and dyons, and find eight new gauge anomaly cancellation conditions in a general theory with both electric and magnetic charges. As a by-product, we also extend the Zwanziger two-potential formalism to include the {theta} parameter, and elaborate on the condition for CP invariance in theories with fermionic dyons.

  4. Local gravity anomalies produced by dislocation sources.

    USGS Publications Warehouse

    Savage, J.C.

    1984-01-01

    Dilatancy, in general, does not correspond to the absence of a free air anomaly, as might be suggested by the special case of a spherical source of dilatation. For two-dimensional models a cylindrical source of dilatation produces no free air gravity anomaly, dip-slip faulting produces no Bouguer anomaly, and open cracks produce a Bouguer anomaly equal to that which would be produced had the material within the crack been mined out without deforming the solid. -from Author

  5. Loop anomalies in the causal approach

    NASA Astrophysics Data System (ADS)

    Grigore, Dan-Radu

    2015-01-01

    We consider gauge models in the causal approach and study one-loop contributions to the chronological products and the anomalies they produce. We prove that in order greater than 4 there are no one-loop anomalies. Next we analyze one-loop anomalies in the second- and third-order of the perturbation theory. We prove that the even parity contributions (with respect to parity) do not produce anomalies; for the odd parity contributions we reobtain the well-known result.

  6. Pneumococcal Vertebral Osteomyelitis after Epidural Injection: A Rare Event

    PubMed Central

    Johnson, Tamara M; Chitturi, Chandrika; Lange, Michael; Suh, Jin S; Slim, Jihad

    2016-01-01

    Streptococcus pneumoniae vertebral infections have rarely been reported. Herein, we report a case of pneumococcal vertebral osteomyelitis with paraspinal and epidural abscesses as well as concomitant bacteremia following epidural injection. This will be the second case in the literature reporting pneumococcal vertebral osteomyelitis related to epidural manipulation. PMID:27621563

  7. Intra-arterial Onyx Embolization of Vertebral Body Lesions

    PubMed Central

    Sedora-Roman, Neda I.; Reddy, Arra Suresh; Ogilvy, Christopher S.; Thomas, Ajith J.

    2013-01-01

    While Onyx embolization of cerebrospinal arteriovenous shunts is well-established, clinical researchers continue to broaden applications to other vascular lesions of the neuraxis. This report illustrates the application of Onyx (eV3, Plymouth, MN) embolization to vertebral body lesions, specifically, a vertebral hemangioma and renal cell carcinoma vertebral body metastatic lesion. PMID:24729960

  8. Pneumococcal Vertebral Osteomyelitis after Epidural Injection: A Rare Event.

    PubMed

    Johnson, Tamara M; Chitturi, Chandrika; Lange, Michael; Suh, Jin S; Slim, Jihad

    2016-01-01

    Streptococcus pneumoniae vertebral infections have rarely been reported. Herein, we report a case of pneumococcal vertebral osteomyelitis with paraspinal and epidural abscesses as well as concomitant bacteremia following epidural injection. This will be the second case in the literature reporting pneumococcal vertebral osteomyelitis related to epidural manipulation. PMID:27621563

  9. The variety of vertebrate mechanisms of sex determination.

    PubMed

    Trukhina, Antonina V; Lukina, Natalia A; Wackerow-Kouzova, Natalia D; Smirnov, Alexander F

    2013-01-01

    The review deals with features of sex determination in vertebrates. The mechanisms of sex determination are compared between fishes, amphibians, reptilians, birds, and mammals. We focus on structural and functional differences in the role of sex-determining genes in different vertebrates. Special attention is paid to the role of estrogens in sex determination in nonmammalian vertebrates. PMID:24369014

  10. Titanium isotopic anomalies in meteorites

    NASA Technical Reports Server (NTRS)

    Niemeyer, S.; Lugmair, G. W.

    1984-01-01

    Studies of Ti isotopic compositions have shown that virtually every Ca-Al-rich Allende inclusion contains anomalous Ti. The present investigation is concerned with the results of a study of Ti isotopic compositions in meteorites. One objective of the study is to evaluate the possibility of a relation between oxygen and Ti anomalies, while another objective is to explore questions regarding the origin of the Ti anomalies. A summary of the major experimental findings of the study of Ti isotopic compositions is also presented. It is noted that an assessment of the implications of the Ti results favors a chemical memory type of model in which products from various nucleosynthetic sources survive in mineral grains. Isotopic heterogeneities are then preserved due to incomplete mixing and/or equilibriation with the bulk of solar system matter. Strong arguments are found to exist against a pure late supernova injection model.

  11. Titanium isotopic anomalies in meteorites

    NASA Astrophysics Data System (ADS)

    Neimeyer, S.; Lugmair, G. W.

    1984-07-01

    Studies of Ti isotopic compositions have shown that virtually every Ca-Al-rich Allende inclusion contains anomalous Ti. The present investigation is concerned with the results of a study of Ti isotopic compositions in meteorites. One objective of the study is to evaluate the possibility of a relation between oxygen and Ti anomalies, while another objective is to explore questions regarding the origin of the Ti anomalies. A summary of the major experimental findings of the study of Ti isotopic compositions is also presented. It is noted that an assessment of the implications of the Ti results favors a chemical memory type of model in which products from various nucleosynthetic sources survive in mineral grains. Isotopic heterogeneities are then preserved due to incomplete mixing and/or equilibriation with the bulk of solar system matter. Strong arguments are found to exist against a pure late supernova injection model.

  12. Survey of Anomaly Detection Methods

    SciTech Connect

    Ng, B

    2006-10-12

    This survey defines the problem of anomaly detection and provides an overview of existing methods. The methods are categorized into two general classes: generative and discriminative. A generative approach involves building a model that represents the joint distribution of the input features and the output labels of system behavior (e.g., normal or anomalous) then applies the model to formulate a decision rule for detecting anomalies. On the other hand, a discriminative approach aims directly to find the decision rule, with the smallest error rate, that distinguishes between normal and anomalous behavior. For each approach, we will give an overview of popular techniques and provide references to state-of-the-art applications.

  13. Model selection for anomaly detection

    NASA Astrophysics Data System (ADS)

    Burnaev, E.; Erofeev, P.; Smolyakov, D.

    2015-12-01

    Anomaly detection based on one-class classification algorithms is broadly used in many applied domains like image processing (e.g. detection of whether a patient is "cancerous" or "healthy" from mammography image), network intrusion detection, etc. Performance of an anomaly detection algorithm crucially depends on a kernel, used to measure similarity in a feature space. The standard approaches (e.g. cross-validation) for kernel selection, used in two-class classification problems, can not be used directly due to the specific nature of a data (absence of a second, abnormal, class data). In this paper we generalize several kernel selection methods from binary-class case to the case of one-class classification and perform extensive comparison of these approaches using both synthetic and real-world data.

  14. Anomalies and Discrete Chiral Symmetries

    SciTech Connect

    Creutz, M.

    2009-09-07

    The quantum anomaly that breaks the U(1) axial symmetry of massless multi-flavored QCD leaves behind a discrete flavor-singlet chiral invariance. With massive quarks, this residual symmetry has a close connection with the strong CP-violating parameter theta. One result is that if the lightest quarks are degenerate, then a first order transition will occur when theta passes through pi. The resulting framework helps clarify when the rooting prescription for extrapolating in the number of flavors is valid.

  15. Prenatal diagnosis of cloacal anomaly.

    PubMed

    Cacciaguerra, S; Lo Presti, L; Di Leo, L; Grasso, S; Gangarossa, S; Di Benedetto, V; Di Benedetto, A

    1998-02-01

    The authors present a case of prenatal diagnosis of cloacal anomaly, characterized by the presence of oligohydramnios and cystic pelvic mass with changing features during observation. Postnatal study confirmed the presence of a recto-cloacal fistula, with a high confluence of the urinary, genital and intestinal systems. Both parents had a chromosome 9 inversion (p11q13), but the child was chromosomally normal. PMID:9561584

  16. Isotopic anomalies in extraterrestrial grains.

    PubMed

    Ireland, T R

    1996-03-01

    Isotopic compositions are referred to as anomalous if the isotopic ratios measured cannot be related to the terrestrial (solar) composition of a given element. While small effects close to the resolution of mass spectrometric techniques can have ambiguous origins, the discovery of large isotopic anomalies in inclusions and grains from primitive meteorites suggests that material from distinct sites of stellar nucleosynthesis has been preserved. Refractory inclusions, which are predominantly composed of the refractory oxides of Al, Ca, Ti, and Mg, in chondritic meteorites commonly have excesses in the heaviest isotopes of Ca, Ti, and Cr which are inferred to have been produced in a supernova. Refractory inclusions also contain excess 26Mg from short lived 26Al decay. However, despite the isotopic anomalies indicating the preservation of distinct nucleosynthetic sites, refractory inclusions have been processed in the solar system and are not interstellar grains. Carbon (graphite and diamond) and silicon carbide grains from the same meteorites also have large isotopic anomalies but these phases are not stable in the oxidized solar nebula which suggests that they are presolar and formed in the circumstellar atmospheres of carbon-rich stars. Diamond has a characteristic signature enriched in the lightest and heaviest isotopes of Xe, and graphite shows a wide range in C isotopic compositions. SiC commonly has C and N isotopic signatures which are characteristic of H-burning in the C-N-O cycle in low-mass stars. Heavier elements such as Si, Ti, Xe, Ba, and Nd, carry an isotopic signature of the s-process. A minor population of SiC (known as Grains X, ca. 1%) are distinct in having decay products of short lived isotopes 26Al (now 26Mg), 44Ti (now 44Ca), and 49V (now 49Ti), as well as 28Si excesses which are characteristic of supernova nucleosynthesis. The preservation of these isotopic anomalies allows the examination of detailed nucleosynthetic pathways in stars. PMID

  17. Pigmentary anomalies and hearing loss.

    PubMed

    Toriello, Helga V

    2011-01-01

    A number of syndromes that include hearing loss in the phenotype also have pigmentary anomalies as a component manifestation. One of the most common of these is Waardenburg syndrome, which includes hypopigmentation and sensorineural hearing loss in the phenotype. There are four types of Waardenburg syndrome, distinguishable from each other by clinical findings. However, there are several other syndromes which include not only hypopigmentation, but also hyperpigmentation in the phenotype. This paper serves as a review of many of these syndromes. PMID:21358185

  18. Cloacal anomaly with bladder tumor

    PubMed Central

    Seth, Amlesh; Ram, Ishwar

    2013-01-01

    A rare case of squamous cell carcinoma of bladder occurring in a 36-year-old female with persistent cloacal anomaly who presented with frequency, urgency, dysuria, and recurrent urinary tract infection is reported. Contrast Enhanced Computed Tomography with three dimensional reconstruction showed presence of bladder tumor and persistent cloaca. She underwent pelvic exenteration and wet colostomy. Histopathologic findings revealed locally advanced moderately differentiated squamous cell carcinoma. PMID:23956519

  19. Vertebral Augmentation Involving Vertebroplasty or Kyphoplasty for Cancer-Related Vertebral Compression Fractures: An Economic Analysis

    PubMed Central

    2016-01-01

    Background Untreated vertebral compression fractures can have serious clinical consequences and impose a considerable impact on patients' quality of life and on caregivers. Since non-surgical management of these fractures has limited effectiveness, vertebral augmentation procedures are gaining acceptance in clinical practice for pain control and fracture stabilization. The objective of this analysis was to determine the cost-effectiveness and budgetary impact of kyphoplasty or vertebroplasty compared with non-surgical management for the treatment of vertebral compression fractures in patients with cancer. Methods We performed a systematic review of health economic studies to identify relevant studies that compare the cost-effectiveness of kyphoplasty or vertebroplasty with non-surgical management for the treatment of vertebral compression fractures in adults with cancer. We also performed a primary cost-effectiveness analysis to assess the clinical benefits and costs of kyphoplasty or vertebroplasty compared with non-surgical management in the same population. We developed a Markov model to forecast benefits and harms of treatments, and corresponding quality-adjusted life years and costs. Clinical data and utility data were derived from published sources, while costing data were derived using Ontario administrative sources. We performed sensitivity analyses to examine the robustness of the results. In addition, a 1-year budget impact analysis was performed using data from Ontario administrative sources. Two scenarios were explored: (a) an increase in the total number of vertebral augmentation procedures performed among patients with cancer in Ontario, maintaining the current proportion of kyphoplasty versus vertebroplasty; and (b) no increase in the total number of vertebral augmentation procedures performed among patients with cancer in Ontario but an increase in the proportion of kyphoplasties versus vertebroplasties. Results The base case considered each of

  20. Vertebral Augmentation Involving Vertebroplasty or Kyphoplasty for Cancer-Related Vertebral Compression Fractures: A Systematic Review

    PubMed Central

    2016-01-01

    Background Cancers that metastasize to the spine and primary cancers such as multiple myeloma can result in vertebral compression fractures or instability. Conservative strategies, including bed rest, bracing, and analgesic use, can be ineffective, resulting in continued pain and progressive functional disability limiting mobility and self-care. Surgery is not usually an option for cancer patients in advanced disease states because of their poor medical health or functional status and limited life expectancy. The objectives of this review were to evaluate the effectiveness and safety of percutaneous image-guided vertebral augmentation techniques, vertebroplasty and kyphoplasty, for palliation of cancer-related vertebral compression fractures. Methods We performed a systematic literature search for studies on vertebral augmentation of cancer-related vertebral compression fractures published from January 1, 2000, to October 2014; abstracts were screened by a single reviewer. For those studies meeting the eligibility criteria, full-text articles were obtained. Owing to the heterogeneity of the clinical reports, we performed a narrative synthesis based on an analytical framework constructed for the type of cancer-related vertebral fractures and the diversity of the vertebral augmentation interventions. Results The evidence review identified 3,391 citations, of which 111 clinical reports (4,235 patients) evaluated the effectiveness of vertebroplasty (78 reports, 2,545 patients) or kyphoplasty (33 reports, 1,690 patients) for patients with mixed primary spinal metastatic cancers, multiple myeloma, or hemangiomas. Overall the mean pain intensity scores often reported within 48 hours of vertebral augmentation (kyphoplasty or vertebroplasty), were significantly reduced. Analgesic use, although variably reported, usually involved parallel decreases, particularly in opioids, and mean pain-related disability scores were also significantly improved. In a randomized controlled

  1. Columbus Payloads Flow Rate Anomalies

    NASA Technical Reports Server (NTRS)

    Quaranta, Albino; Bufano, Gaetana; DePalo, Savino; Holt, James M.; Szigetvari, Zoltan; Palumberi, Sergio; Hinderer, S.

    2011-01-01

    The Columbus Active Thermal Control System (ATCS) is the main thermal bus for the pressurized racks working inside the European laboratory. One of the ATCS goals is to provide proper water flow rate to each payload (P/L) by controlling actively the pressure drop across the common plenum distribution piping. Overall flow measurement performed by the Water Pump Assembly (WPA) is the only flow rate monitor available at system level and is not part of the feedback control system. At rack activation the flow rate provided by the system is derived on ground by computing the WPA flow increase. With this approach, several anomalies were raised during these 3 years on-orbit, with the indication of low flow rate conditions on the European racks FSL, BioLab, EDR and EPM. This paper reviews the system and P/Ls calibration approach, the anomalies occurred, the engineering evaluation on the measurement approach and the accuracy improvements proposed, the on-orbit test under evaluation with NASA and finally discusses possible short and long term solutions in case of anomaly confirmation.

  2. Vertebral destruction due to abdominal aortic aneurysm

    PubMed Central

    Jiménez Viseu Pinheiro, J.F.; Blanco Blanco, J.F.; Pescador Hernández, D.; García García, F.J.

    2014-01-01

    Introduction Low back pain is a common cause of medical consultation, and usually supposes a non-malignant prognostic. Presentation of case We report an atypical appearance of low back pain associated to shock and pulsatile abdominal mass that made us diagnose an abdominal aortic aneurysm as reason of vertebral lysis and pain. Discusion Surgical repair of contained AAA should be directed to secondary re-rupture prevention, with an approximate survival near to 100% at selected patients for elective surgery. Consequently, orthopedic surgery for back spine stabilization has to be elective in those cases when vertebral destruction is above 30% and clinic is directly related to spine instability. Conclusion We should consider AAA as other cause of low back pain and routinely examine the abdomen and seek complementary imaging proves when risk factors for AAA are present. PMID:25569196

  3. Patterns and Processes of Vertebrate Evolution

    NASA Astrophysics Data System (ADS)

    Carroll, Robert Lynn

    1997-04-01

    This new text provides an integrated view of the forces that influence the patterns and rates of vertebrate evolution from the level of living populations and species to those that resulted in the origin of the major vertebrate groups. The evolutionary roles of behavior, development, continental drift, and mass extinctions are compared with the importance of variation and natural selection that were emphasized by Darwin. It is extensively illustrated, showing major transitions between fish and amphibians, dinosaurs and birds, and land mammals to whales. No book since Simpson's Major Features of Evolution has attempted such a broad study of the patterns and forces of evolutionary change. Undergraduate students taking a general or advanced course on evolution, and graduate students and professionals in evolutionary biology and paleontology will find the book of great interest.

  4. Acute compressive myelopathy due to vertebral haemangioma

    PubMed Central

    Macki, Mohamed; Bydon, Mohamad; Kaloostian, Paul; Bydon, Ali

    2014-01-01

    A 47-year-old woman with a history of anaemia presented to the emergency room with an acute onset of leg weakness. Physical examination of the bilateral lower extremities was significant for 0/5 muscle strength in all muscle groups with decreased pinprick and temperature sensation. A sensory level at the umbilicus was appreciated. Fine touch and proprioception were preserved. Bowel and bladder function were intact. CT revealed several thoracic, vertebral haemangiomatas. An MRI was suggestive of an epidural clot at the T8–T10-weighted posterior epidural space. At the level of the lesion, the cerebrospinal fluid space was completely effaced, and the flattened spinal cord exhibited signs of oedema and compressive myelopathy. The patient immediately underwent surgical decompression of the spinal cord. An epidural clot and vessel conglomeration were identified. A postoperative spinal angiogram confirmed the diagnosis of vertebral haemangioma. At 1-month follow-up, the patient regained strength and sensation. PMID:24777075

  5. Dynamic epithelia of the developing vertebrate face

    PubMed Central

    Choe, Chong Pyo; Crump, J. Gage

    2015-01-01

    A segmental series of endoderm-derived pouch and ectoderm-derived cleft epithelia act as signaling centers in the developing face. Their precise morphogenesis is therefore essential for proper patterning of the vertebrate head. Intercellular adhesion and polarity are highly dynamic within developing facial epithelial cells, with signaling from the adjacent mesenchyme controlling both epithelial character and directional migration. Endodermal and ectodermal epithelia fuse to form the primary mouth and gill slits, which involves basement membrane dissolution, cell intercalations, and apoptosis, as well as undergo further morphogenesis to generate the middle ear cavity and glands of the neck. Recent studies of facial epithelia are revealing both core programs of epithelial morphogenesis and insights into the coordinated assembly of the vertebrate head. PMID:25748249

  6. Clinical Management of Vertebral Compression Fractures.

    PubMed

    Miller, Paul D

    2016-01-01

    Vertebral compression fractures (VCF's) are the most common form of osteoporotic fractures. Whether symptomatic or asymptomatic, they both represent a high risk for not only vertebral but also nonvertebral fractures in untreated populations. This high risk of future fracture after a VCF is independent of the T-score because bone strength is a combination of bone mineral density and bone quality. VCFs are the single greatest risk for future fractures at all other skeletal sites in untreated populations, including hip fractures. They are often unrecognized despite their exceptionally high prevalence in all genders and most ethnic groups as age increases. This article highlights some of the key messages about VCF's, and how assessment for their presence and then management will reduce the risk of all osteoporotic fractures. PMID:26439186

  7. Vertebral osteomyelitis: disk hypodensity on CT

    SciTech Connect

    Larde, D.; Mathieu, D.; Frija, J.; Gaston, A.; Vasile, N.

    1982-11-01

    The importance and role of computed tomography (CT) are discussed on the basis of 36 cases of vertebral osteomyelitis. The bone images themselves, the detection of lumbar disk hypodensity, and the exploration of soft paraspinal regions in the search for an abscess are factors that contribute to the superiority of this method in difficult cases. In cases where the diagnosis is already known, CT offers an excellent method to assess the extent of the lesions. Its accuracy, coupled with its rapidity and noninvasive nature, affects the role of conventional tomography, a method that is incomplete and involves higher radiation doses. CT offers an excellent method for follow-up after treatment of vertebral osteomyelitis.

  8. [A vertebral arteriovenous fistula diagnosed by auscultation].

    PubMed

    Iglesias Escalera, G; Diaz-Delgado Peñas, R; Carrasco Marina, M Ll; Maraña Perez, A; Ialeggio, D

    2015-01-01

    Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head». On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography. AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children. PMID:24598790

  9. Turning Heads: Development of Vertebrate Branchiomotor Neurons

    PubMed Central

    Chandrasekhar, Anand

    2007-01-01

    The cranial motor neurons innervate muscles that control eye, jaw, and facial movements of the vertebrate head and parasympathetic neurons that innervate certain glands and organs. These efferent neurons develop at characteristic locations in the brainstem, and their axons exit the neural tube in well-defined trajectories to innervate target tissues. This review is focused on a subset of cranial motor neurons called the branchiomotor neurons, which innervate muscles derived from the branchial (pharyngeal) arches. First, the organization of the branchiomotor pathways in zebrafish, chick, and mouse embryos will be compared, and the underlying axon guidance mechanisms will be addressed. Next, the molecular mechanisms that generate branchiomotor neurons and specify their identities will be discussed. Finally, the caudally directed or tangential migration of facial branchiomotor neurons will be examined. Given the advances in the characterization and analysis of vertebrate genomes, we can expect rapid progress in elucidating the cellular and molecular mechanisms underlying the development of these vital neuronal networks. PMID:14699587

  10. Population momentum across vertebrate life histories

    USGS Publications Warehouse

    Koons, D.N.; Grand, J.B.; Arnold, J.M.

    2006-01-01

    Population abundance is critically important in conservation, management, and demographic theory. Thus, to better understand how perturbations to the life history affect long-term population size, we examined population momentum for four vertebrate classes with different life history strategies. In a series of demographic experiments we show that population momentum generally has a larger effect on long-term population size for organisms with long generation times than for organisms with short generation times. However, patterns between population momentum and generation time varied across taxonomic groups and according to the life history parameter that was changed. Our findings indicate that momentum may be an especially important aspect of population dynamics for long-lived vertebrates, and deserves greater attention in life history studies. Further, we discuss the importance of population momentum in natural resource management, pest control, and conservation arenas. ?? 2006 Elsevier B.V. All rights reserved.

  11. Global anomalies and effective field theory

    NASA Astrophysics Data System (ADS)

    Golkar, Siavash; Sethi, Savdeep

    2016-05-01

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

  12. Pyogenic Vertebral Osteomyelitis in Heroin Addicts

    PubMed Central

    Fishbach, Ronald S.; Rosenblatt, Jon E.; Dahlgren, James G.

    1973-01-01

    The diagnosis of pyogenic vertebral osteomyelitis was made in seven narcotic addicts between 1967 and 1972. Vertebrae involved were either cervical or lumbar. Bacteriologic diagnosis was made in each case by percutaneous needle biopsy and aspiration. Staphylococcus aureus was cultured in two patients. Five patients had infections due to Gram-negative bacteria, including Klebsiella pneumoniae, Pseudomonas aeruginosa and Enterobacter. All patients were cured by treatment with antibiotics and immobilization. PMID:4199351

  13. The Timing of Timezyme Diversification in Vertebrates

    PubMed Central

    Cazaméa-Catalan, Damien; Besseau, Laurence; Falcón, Jack; Magnanou, Elodie

    2014-01-01

    All biological functions in vertebrates are synchronized with daily and seasonal changes in the environment by the time keeping hormone melatonin. Its nocturnal surge is primarily due to the rhythmic activity of the arylalkylamine N-acetyl transferase AANAT, which thus became the focus of many investigations regarding its evolution and function. Various vertebrate isoforms have been reported from cartilaginous fish to mammals but their origin has not been clearly established. Using phylogeny and synteny, we took advantage of the increasing number of available genomes in order to test whether the various rounds of vertebrate whole genome duplications were responsible for the diversification of AANAT. We highlight a gene secondary loss of the AANAT2 in the Sarcopterygii, revealing for the first time that the AAANAT1/2 duplication occurred before the divergence between Actinopterygii (bony fish) and Sarcopterygii (tetrapods, lobe-finned fish, and lungfish). We hypothesize the teleost-specific whole genome duplication (WDG) generated the appearance of the AANAT1a/1b and the AANAT2/2′paralogs, the 2′ isoform being rapidly lost in the teleost common ancestor (ray-finned fish). We also demonstrate the secondary loss of the AANAT1a in a Paracantopterygii (Atlantic cod) and of the 1b in some Ostariophysi (zebrafish and cave fish). Salmonids present an even more diverse set of AANATs that may be due to their specific WGD followed by secondary losses. We propose that vertebrate AANAT diversity resulted from 3 rounds of WGD followed by previously uncharacterized secondary losses. Extant isoforms show subfunctionalized localizations, enzyme activities and affinities that have increased with time since their emergence. PMID:25486407

  14. Light sensitivity in a vertebrate mechanoreceptor?

    PubMed Central

    Baker, Gary E.; de Grip, Willem J.; Turton, Michael; Wagner, Hans-Joachim; Foster, Russell G.; Douglas, Ron H.

    2015-01-01

    ABSTRACT Using immunohistochemistry and western blot analysis, we demonstrate that melanopsin is localised in cells around the central pore of lateral line neuromasts in the African clawed frog, Xenopus laevis. Since melanopsin is a known photoreceptor pigment with diverse functions in vertebrates, we suggest that the lateral line of Xenopus laevis, which is primarily a mechanoreceptor, might also be light sensitive. Potential functions of such photosensitivity are discussed, including its role in mediating locomotor responses following dermal illumination. PMID:26206352

  15. Transmission of Ranavirus between Ectothermic Vertebrate Hosts

    PubMed Central

    Brenes, Roberto; Gray, Matthew J.; Waltzek, Thomas B.; Wilkes, Rebecca P.; Miller, Debra L.

    2014-01-01

    Transmission is an essential process that contributes to the survival of pathogens. Ranaviruses are known to infect different classes of lower vertebrates including amphibians, fishes and reptiles. Differences in the likelihood of infection among ectothermic vertebrate hosts could explain the successful yearlong persistence of ranaviruses in aquatic environments. The goal of this study was to determine if transmission of a Frog Virus 3 (FV3)-like ranavirus was possible among three species from different ectothermic vertebrate classes: Cope’s gray treefrog (Hyla chrysoscelis) larvae, mosquito fish (Gambusia affinis), and red-eared slider (Trachemys scripta elegans). We housed individuals previously exposed to the FV3-like ranavirus with naïve (unexposed) individuals in containers divided by plastic mesh screen to permit water flow between subjects. Our results showed that infected gray treefrog larvae were capable of transmitting ranavirus to naïve larval conspecifics and turtles (60% and 30% infection, respectively), but not to fish. Also, infected turtles and fish transmitted ranavirus to 50% and 10% of the naïve gray treefrog larvae, respectively. Nearly all infected amphibians experienced mortality, whereas infected turtles and fish did not die. Our results demonstrate that ranavirus can be transmitted through water among ectothermic vertebrate classes, which has not been reported previously. Moreover, fish and reptiles might serve as reservoirs for ranavirus given their ability to live with subclinical infections. Subclinical infections of ranavirus in fish and aquatic turtles could contribute to the pathogen’s persistence, especially when highly susceptible hosts like amphibians are absent as a result of seasonal fluctuations in relative abundance. PMID:24667325

  16. The timing of Timezyme diversification in vertebrates.

    PubMed

    Cazaméa-Catalan, Damien; Besseau, Laurence; Falcón, Jack; Magnanou, Elodie

    2014-01-01

    All biological functions in vertebrates are synchronized with daily and seasonal changes in the environment by the time keeping hormone melatonin. Its nocturnal surge is primarily due to the rhythmic activity of the arylalkylamine N-acetyl transferase AANAT, which thus became the focus of many investigations regarding its evolution and function. Various vertebrate isoforms have been reported from cartilaginous fish to mammals but their origin has not been clearly established. Using phylogeny and synteny, we took advantage of the increasing number of available genomes in order to test whether the various rounds of vertebrate whole genome duplications were responsible for the diversification of AANAT. We highlight a gene secondary loss of the AANAT2 in the Sarcopterygii, revealing for the first time that the AAANAT1/2 duplication occurred before the divergence between Actinopterygii (bony fish) and Sarcopterygii (tetrapods, lobe-finned fish, and lungfish). We hypothesize the teleost-specific whole genome duplication (WDG) generated the appearance of the AANAT1a/1b and the AANAT2/2'paralogs, the 2' isoform being rapidly lost in the teleost common ancestor (ray-finned fish). We also demonstrate the secondary loss of the AANAT1a in a Paracantopterygii (Atlantic cod) and of the 1b in some Ostariophysi (zebrafish and cave fish). Salmonids present an even more diverse set of AANATs that may be due to their specific WGD followed by secondary losses. We propose that vertebrate AANAT diversity resulted from 3 rounds of WGD followed by previously uncharacterized secondary losses. Extant isoforms show subfunctionalized localizations, enzyme activities and affinities that have increased with time since their emergence. PMID:25486407

  17. T-cell receptors in ectothermic vertebrates.

    PubMed

    Charlemagne, J; Fellah, J S; De Guerra, A; Kerfourn, F; Partula, S

    1998-12-01

    The structure and expression of genes encoding molecules homologous to mammalian T-cell receptors (TCR) have been recently studied in ectothermic vertebrate species representative of chondrychthians, teleosts, and amphibians. The overall TCR chain structure is well conserved in phylogeny: TCR beta- and TCR alpha-like chains were detected in all the species analyzed; TCR gamma- and TCR delta-like chains were also present in a chondrychthian species. The diversity potential of the variable (V) and joining (J) segments is rather large and, as in mammals, conserved diversity (D) segments are associated to the TCR beta and TCR delta chains. An important level of junctional diversity occurred at the V-(D)-J junctions, with the potential addition of N- and P-nucleotides. Thus, the conservation of the structure and of the potential of diversity of TCR molecules have been under a permanent selective pressure during vertebrate evolution. The structure of MHC class I and class II molecules was also well conserved in jawed vertebrates. TCR and MHC molecules are strongly functionally linked and play a determinant role in the initiation and the regulation of the specific immune responses; thus, it is not surprising that their structures have been reciprocally frozen during evolution. PMID:9914905

  18. The immunoglobulins of cold-blooded vertebrates.

    PubMed

    Pettinello, Rita; Dooley, Helen

    2014-01-01

    Although lymphocyte-like cells secreting somatically-recombining receptors have been identified in the jawless fishes (hagfish and lamprey), the cartilaginous fishes (sharks, skates, rays and chimaera) are the most phylogenetically distant group relative to mammals in which bona fide immunoglobulins (Igs) have been found. Studies of the antibodies and humoral immune responses of cartilaginous fishes and other cold-blooded vertebrates (bony fishes, amphibians and reptiles) are not only revealing information about the emergence and roles of the different Ig heavy and light chain isotypes, but also the evolution of specialised adaptive features such as isotype switching, somatic hypermutation and affinity maturation. It is becoming increasingly apparent that while the adaptive immune response in these vertebrate lineages arose a long time ago, it is most definitely not primitive and has evolved to become complex and sophisticated. This review will summarise what is currently known about the immunoglobulins of cold-blooded vertebrates and highlight the differences, and commonalities, between these and more "conventional" mammalian species. PMID:25427250

  19. Effects of hypoxia on vertebrate blood vessels.

    PubMed

    Russell, Michael J; Dombkowski, Ryan A; Olson, Kenneth R

    2008-03-01

    Hypoxia contracts mammalian respiratory vessels and increases vascular resistance in respiratory tissues of many vertebrates. In systemic vessels these responses vary, hypoxia relaxes mammalian vessels and contracts systemic arteries from cyclostomes. It has been proposed that hypoxic vasoconstriction in cyclostome systemic arteries is the antecedent to mammalian hypoxic pulmonary vasoconstriction, however, phylogenetic characterization of hypoxic responses is lacking. In this study, we characterized the hypoxic response of isolated systemic and respiratory vessels from a variety of vertebrates using standard myography. Pre-gill/respiratory (ventral aorta, afferent branchial artery, pulmonary artery) and post-gill/systemic (dorsal and thoracic aortas, efferent branchial artery) from lamprey (Petromyzon marinus), sandbar shark (Carcharhinus plumbeus), yellowfin tuna (Thunnus albacares), American bullfrog (Rana catesbeiana), American alligator (Alligator mississippiensis), Pekin duck (Anas platyrhynchos domesticus), chicken (Gallus domesticus) and rat (Rattus norvegicus) were exposed to hypoxia at rest or during pre-stimulation (elevated extracellular potassium, epinephrine or norepinephrine). Hypoxia produced a relaxation or transient contraction followed by relaxation in all pre-gill vessels, except for contraction in lamprey, and vasoconstriction or tri-phasic constriction-dilation-constriction in all pulmonary vessels. Hypoxia contracted systemic vessels from all animals except shark and rat and in pre-contracted rat aortas it produced a transient contraction followed by relaxation. These results show that while the classic "systemic hypoxic vasodilation and pulmonary hypoxic vasoconstriction" may occur in the microcirculation, the hypoxic response of the vertebrate macrocirculation is quite variable. These findings also suggest that hypoxic vasoconstriction is a phylogenetically ancient response. PMID:18214862

  20. Fungal osteomyelitis with vertebral re-ossification

    PubMed Central

    O′Guinn, Devon J.; Serletis, Demitre; Kazemi, Noojan

    2015-01-01

    Introduction We present a rare case of thoracic vertebral osteomyelitis secondary to pulmonary Blastomyces dermatitides. Presentation of case A 27-year-old male presented with three months of chest pains and non-productive cough. Examination revealed diminished breath sounds on the right. CT/MR imaging confirmed a right-sided pre-/paravertebral soft tissue mass and destructive lytic lesions from T2 to T6. CT-guided needle biopsy confirmed granulomatous pulmonary Blastomycosis. Conservative management with antifungal therapy was initiated. Neurosurgical review confirmed no clinical or profound radiographic instability, and the patient was stabilized with TLSO bracing. Serial imaging 3 months later revealed near-resolution of the thoracic soft tissue mass, with vertebral re-ossification from T2 to T6. Discussion Fungal osteomyelitis presents a rare entity in the spectrum of spinal infections. In such cases, lytic spinal lesions are classically seen in association with a large paraspinous mass. Fungal infections of the spinal column may be treated conservatively, with surgical intervention reserved for progressive cases manifesting with neurological compromise and/or spinal column instability. Here, we found unexpected evidence for vertebral re-ossification across the affected thoracic levels (T2-6) in response to IV antibiotic therapy and conservative bracing, nearly 3 months later. PMID:26692163

  1. Flapping wing aerodynamics: from insects to vertebrates.

    PubMed

    Chin, Diana D; Lentink, David

    2016-04-01

    More than a million insects and approximately 11,000 vertebrates utilize flapping wings to fly. However, flapping flight has only been studied in a few of these species, so many challenges remain in understanding this form of locomotion. Five key aerodynamic mechanisms have been identified for insect flight. Among these is the leading edge vortex, which is a convergent solution to avoid stall for insects, bats and birds. The roles of the other mechanisms - added mass, clap and fling, rotational circulation and wing-wake interactions - have not yet been thoroughly studied in the context of vertebrate flight. Further challenges to understanding bat and bird flight are posed by the complex, dynamic wing morphologies of these species and the more turbulent airflow generated by their wings compared with that observed during insect flight. Nevertheless, three dimensionless numbers that combine key flow, morphological and kinematic parameters - the Reynolds number, Rossby number and advance ratio - govern flapping wing aerodynamics for both insects and vertebrates. These numbers can thus be used to organize an integrative framework for studying and comparing animal flapping flight. Here, we provide a roadmap for developing such a framework, highlighting the aerodynamic mechanisms that remain to be quantified and compared across species. Ultimately, incorporating complex flight maneuvers, environmental effects and developmental stages into this framework will also be essential to advancing our understanding of the biomechanics, movement ecology and evolution of animal flight. PMID:27030773

  2. The Immunoglobulins of Cold-Blooded Vertebrates

    PubMed Central

    Pettinello, Rita; Dooley, Helen

    2014-01-01

    Although lymphocyte-like cells secreting somatically-recombining receptors have been identified in the jawless fishes (hagfish and lamprey), the cartilaginous fishes (sharks, skates, rays and chimaera) are the most phylogenetically distant group relative to mammals in which bona fide immunoglobulins (Igs) have been found. Studies of the antibodies and humoral immune responses of cartilaginous fishes and other cold-blooded vertebrates (bony fishes, amphibians and reptiles) are not only revealing information about the emergence and roles of the different Ig heavy and light chain isotypes, but also the evolution of specialised adaptive features such as isotype switching, somatic hypermutation and affinity maturation. It is becoming increasingly apparent that while the adaptive immune response in these vertebrate lineages arose a long time ago, it is most definitely not primitive and has evolved to become complex and sophisticated. This review will summarise what is currently known about the immunoglobulins of cold-blooded vertebrates and highlight the differences, and commonalities, between these and more “conventional” mammalian species. PMID:25427250

  3. Persistent Primitive Hypoglossal Artery (PPHA) - A Rare Anomaly with Literature Review.

    PubMed

    Srinivas, M R; Vedaraju, K S; Manjappa, B H; Nagaraj, B R

    2016-01-01

    Persistent primitive hypoglossal artery (PPHA) is a rare embryonic carotid vertebrobasilar artery anastomosis. Hypoglossal artery arises from the internal carotid artery (ICA) between the C1 and C2 vertebral levels and traverses through the hypoglossal canal to join the vertebro-basilar system. We present a rare case of an anomalous right sided PPHA as a sole supply to posterior circulation of brain with absent/hypoplastic bilateral vertebral arteries in a two year child who had presented with acute left sided haemiplegia. Three dimensional time of flight magnetic resonance angiography identified an anomalous vessel arising from the right internal carotid artery at the level of axis vertebra and joining the vertebra-basilar arterial system after coursing through the right hypoglossal canal. This anomaly when present may predispose the person to aneurysm formation, ischaemia in the posterior circulation and atherosclerotic disease of the intracranial vessels. PMID:26894148

  4. Persistent Primitive Hypoglossal Artery (PPHA) – A Rare Anomaly with Literature Review

    PubMed Central

    Vedaraju, KS; Manjappa, BH; Nagaraj, BR

    2016-01-01

    Persistent primitive hypoglossal artery (PPHA) is a rare embryonic carotid vertebrobasilar artery anastomosis. Hypoglossal artery arises from the internal carotid artery (ICA) between the C1 and C2 vertebral levels and traverses through the hypoglossal canal to join the vertebro-basilar system. We present a rare case of an anomalous right sided PPHA as a sole supply to posterior circulation of brain with absent/hypoplastic bilateral vertebral arteries in a two year child who had presented with acute left sided haemiplegia. Three dimensional time of flight magnetic resonance angiography identified an anomalous vessel arising from the right internal carotid artery at the level of axis vertebra and joining the vertebra-basilar arterial system after coursing through the right hypoglossal canal. This anomaly when present may predispose the person to aneurysm formation, ischaemia in the posterior circulation and atherosclerotic disease of the intracranial vessels. PMID:26894148

  5. Satellite GN and C Anomaly Trends

    NASA Technical Reports Server (NTRS)

    Robertson, Brent; Stoneking, Eric

    2003-01-01

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

  6. Trends in environmentally induced spacecraft anomalies

    NASA Technical Reports Server (NTRS)

    Wilkinson, Daniel C.

    1989-01-01

    The Spacecraft Anomaly Data Base was useful in identifying trends in anomaly occurrence. Trends alone do not provide quantitative testimony to a spacecraft's reliability, but they do indicate areas that command closer study. An in-depth analysis of a specific anomaly can be expensive and difficult without access to the spacecraft. Statistically verified anomaly trends can provide a good reference point to begin anomaly analysis. Many spacecraft experience an increase in anomalies during the period of several days centered on the solar equinox, a period that is also correlated with sun eclipse at geostationary altitude and an increase in major geomagnetic storms. Increase anomaly occurrence can also be seen during the local time interval between midnight and dawn. This local time interval represents a region in Earth's near space that experiences an enhancement in electron plasma density due to a migration from the magnetotail during or following a geomagnetic substorm.

  7. FRAX and the effect of teriparatide on vertebral and non-vertebral fracture

    PubMed Central

    Harvey, Nicholas C; Kanis, John A; Odén, Anders; Burge, Russel T; Mitlak, Bruce H; Johansson, Helena; McCloskey, Eugene V

    2016-01-01

    Summary Daily teriparatide injections have been shown to reduce vertebral and non-vertebral fractures. Here we demonstrate that the magnitude of fracture risk reduction is independent of baseline fracture probability assessed by FRAX. Background Daily administration of 20μg or 40μg teriparatide has been shown to significantly decrease the risk of vertebral and non-vertebral fracture compared with placebo. The aim of the present study was to evaluate fracture risk assessed at baseline using the FRAX® tool and to determine the efficacy of teriparatide as a function of baseline fracture risk. Methods 1637 postmenopausal women in the pivotal phase 3 trial, randomly assigned to receive placebo (n=544), teriparatide 20 μg per day (n=541) or teriparatide 40 μg per day (n=552), were studied. Baseline clinical risk factors were entered into country-specific FRAX models to compute the 10-year probability of major osteoporotic fractures with or without input of femoral neck BMD. Because there was no difference in effect of 20 and 40μg teriparatide daily on fracture occurrence, the two active groups were merged. The interaction between probability of a major fracture and treatment efficacy was examined by Poisson regression. Results The 10-year probability of major osteoporotic fractures (with BMD) ranged from 2.2-67.2%. Treatment with teriparatide was associated with a 37% decrease in all non-vertebral fractures (95% CI:10-56 %) and a 56% decrease in low energy non-vertebral fractures (95% CI:24-75%) compared with placebo. The risk of morphometric vertebral fractures decreased significantly by 66% (95% CI:50-77%). Hazard ratios for the effect of teriparatide on the fracture outcome did not change significantly with increasing fracture probability (p>0.30). Similar findings were noted for the interaction when BMD was excluded from the FRAX model, or when probability of hip fracture was used as the marker of baseline risk. Conclusion We conclude that teriparatide

  8. Prospective Single-Site Experience with Radiofrequency-Targeted Vertebral Augmentation for Osteoporotic Vertebral Compression Fracture

    PubMed Central

    Moser, Franklin G.; Maya, Marcel M.; Blaszkiewicz, Laura; Scicli, Andrea; Miller, Larry E.; Block, Jon E.

    2013-01-01

    Vertebral augmentation procedures are widely used to treat osteoporotic vertebral compression fractures (VCFs). We report our initial experience with radiofrequency-targeted vertebral augmentation (RF-TVA) in 20 patients aged 50 to 90 years with single-level, symptomatic osteoporotic VCF between T10 and L5, back pain severity > 4 on a 0 to 10 scale, Oswestry Disability Index ≥ 21%, 20% to 90% vertebral height loss compared to adjacent vertebral body, and fracture age < 6 months. After treatment, patients were followed through hospital discharge and returned for visits after 1 week, 1 month, and 3 months. Back pain severity improved 66% (P < 0.001), from 7.9 (95% CI: 7.1 to 8.6) at pretreatment to 2.7 (95% CI: 1.5 to 4.0) at 3 months. Back function improved 46% (P < 0.001), from 74 (95% CI: 69% to 79%) at pretreatment to 40 (95% CI: 33% to 47%) at 3 months. The percentage of patients regularly consuming pain medication was 70% at pretreatment and only 21% at 3 months. No adverse events related to the device or procedure were reported. RF-TVA reduces back pain severity, improves back function, and reduces pain medication requirements with no observed complications in patients with osteoporotic VCF. PMID:24228187

  9. Surgical treatment of aggressive vertebral hemangiomas.

    PubMed

    Vasudeva, Viren S; Chi, John H; Groff, Michael W

    2016-08-01

    OBJECTIVE Vertebral hemangiomas are common tumors that are benign and generally asymptomatic. Occasionally these lesions can exhibit aggressive features such as bony expansion and erosion into the epidural space resulting in neurological symptoms. Surgery is often recommended in these cases, especially if symptoms are severe or rapidly progressive. Some surgeons perform decompression alone, others perform gross-total resection, while others perform en bloc resection. Radiation, embolization, vertebroplasty, and ethanol injection have also been used in combination with surgery. Despite the variety of available treatment options, the optimal management strategy is unclear because aggressive vertebral hemangiomas are uncommon lesions, making it difficult to perform large trials. For this reason, the authors chose instead to report their institutional experience along with a comprehensive review of the literature. METHODS A departmental database was searched for patients with a pathological diagnosis of "hemangioma" between 2008 and 2015. Medical records were reviewed to identify patients with aggressive vertebral hemangiomas, and these cases were reviewed in detail. RESULTS Five patients were identified who underwent surgery for treatment of aggressive vertebral hemangiomas during the specified time period. There were 2 lumbar and 3 thoracic lesions. One patient underwent en bloc spondylectomy, 2 patients had piecemeal gross-total resection, and the remaining 2 had subtotal tumor resection. Intraoperative vertebroplasty was used in 3 cases to augment the anterior column or to obliterate residual tumor. Adjuvant radiation was used in 1 case where there was residual tumor as well. The patient who underwent en bloc spondylectomy experienced several postoperative complications requiring additional medical care and reoperation. At an average follow-up of 31 months (range 3-65 months), no patient had any recurrence of disease and all were clinically asymptomatic, except the

  10. Thoracic meningocele in lumbo-costo-vertebral syndrome in a child: possible enlargement with repeated motion by anchoring to the diaphragm.

    PubMed

    Wataya, Takafumi; Horikawa, Kyohei; Kitagawa, Masashi; Tashiro, Yuzuru

    2016-08-01

    Lumbo-costo-vertebral syndrome (LCVS) is a rare disorder in children that is characterized by hemivertebrae, congenital absence of ribs, meningocele, and hypoplasia of the truncal and abdominal wall presenting as a congenital lumbar hernia. An otherwise healthy 12-month-old girl was referred to the authors' hospital with soft swelling on her left middle back; scoliosis had been present since birth. Imaging revealed a thoracic meningocele, ectopia of the spleen suggesting lumbar hernia, multiple anomalies of the thoracic vertebral columns, and defects of the ribs; thus, LCVS was diagnosed. Surgical observation revealed that the meningocele was firmly anchored to part of the diaphragm, which created stretching tension in the meningocele continuously with exhalation. Once detached, the meningocele shrank spontaneously and never developed again after cauterization. In this case, continuous or pulsatile pressure in the presence of a vertebral defect was thus considered to be an important factor for formation of the thoracic meningocele. PMID:27058456