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Sample records for multiple vascular anomalies

  1. Vascular anomalies in children.

    PubMed

    Weibel, L

    2011-11-01

    Vascular anomalies are divided in two major categories: tumours (such as infantile hemangiomas) and malformations. Hemangiomas are common benign neoplasms that undergo a proliferative phase followed by stabilization and eventual spontaneous involution, whereas vascular malformations are rare structural anomalies representing morphogenetic errors of developing blood vessels and lymphatics. It is important to properly diagnose vascular anomalies early in childhood because of their distinct differences in morbidity, prognosis and need for a multidisciplinary management. We discuss a number of characteristic clinical features as clues for early diagnosis and identification of associated syndromes.

  2. Pathogenesis of Vascular Anomalies

    PubMed Central

    Boon, Laurence M.; Ballieux, Fanny; Vikkula, Miikka

    2010-01-01

    Vascular anomalies are localized defects of vascular development. Most of them occur sporadically, i.e. there is no familial history of lesions, yet in a few cases clear inheritance is observed. These inherited forms are often characterized by multifocal lesions that are mainly small in size and increase in number with patient’s age. On the basis of these inherited forms, molecular genetic studies have unraveled a number of inherited mutations giving direct insight into the pathophysiological cause and the molecular pathways that are implicated. Genetic defects have been identified for hereditary haemorrhagic telangiectasia (HHT), inherited cutaneomucosal venous malformation (VMCM), glomuvenous malformation (GVM), capillary malformation - arteriovenous malformation (CM-AVM), cerebral cavernous malformation (CCM) and some isolated and syndromic forms of primary lymphedema. We focus on these disorders, the implicated mutated genes and the underlying pathogenic mechanisms. We also call attention to the concept of Knudson’s double-hit mechanism to explain incomplete penetrance and the large clinical variation in expressivity of inherited vascular anomalies. This variability renders the making of correct diagnosis of the rare inherited forms difficult. Yet, the identification of the pathophysiological causes and pathways involved in them has had an unprecedented impact on our thinking of their etiopathogenesis, and has opened the doors towards a more refined classification of vascular anomalies. It has also made it possible to develop animal models that can be tested for specific molecular therapies, aimed at alleviating the dysfunctions caused by the aberrant genes and proteins. PMID:21095468

  3. Caution is recommended prior to sildenafil use in vascular anomalies.

    PubMed

    Rankin, Hannah; Zwicker, Kelley; Trenor, Cameron C

    2015-11-01

    Since publication of a single case report of lymphatic malformation improvement during sildenafil therapy for pulmonary hypertension, sildenafil use has propagated across multiple vascular anomalies diagnoses. Vascular anomalies are rare conditions, often with poor long-term outcomes from available therapies, making these patients vulnerable to novel therapy use. We have retrospectively reviewed 14 children with vascular anomalies treated with sildenafil. None of these patients reported improvement of disease while on treatment and some reported side effects including infections and bleeding. Pending more convincing prospective data, we recommend caution prior to sildenafil use for vascular anomalies.

  4. [Pathogenesis and genetics of vascular anomalies].

    PubMed

    Vikkula, M

    2006-01-01

    Vascular anomalies, divided into vascular tumors and vascular malformations, are localized defects of angiogenesis. Hemangiomas appear soon after birth, grow quickly, and then spontaneously, but slowly, disappear. In contrast, vascular malformations are congenital defects of vascular development that grow proportionately with the child. Most vascular anomalies are considered non-hereditary. However, due to detailed analysis inherited forms have been observed, which has led to identify mutations in three genes causing familial vascular malformations: in the angiopoietin receptor TIE2 in mucocutaneous venous malformations (VMCM), in glomulin in glomuvenous malformations (GVM) and in RASA1 in the newly recognized phenotype capillary malformation-arteriovenous malformation (CM-AVM). Identification of the causative genes has permitted more precise diagnosis and differential diagnosis, evaluation of phenotypic variability among patients with a proven mutation, study of used treatments in more homogeneous patient groups, and elucidation of the etiopathogenic mechanisms behind vascular malformations. Further studies are needed to unravel the role of genetic variations in the various vascular malformations and to unravel the precise molecular mechanisms that lead to development of these vascular lesions. This should provide development of new-targeted therapies.

  5. PHACE Syndrome: Persistent Fetal Vascular Anomalies

    PubMed Central

    Prochazka, V.; Hrbac, T.; Chmelova, J.; Skoloudik, D.; Prochazka, M.

    2005-01-01

    Summary PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency. PMID:20584448

  6. Radiographic Findings Associated with Vascular Anomalies

    PubMed Central

    Masand, Prakash

    2014-01-01

    Imaging of patients with vascular tumors and malformations has been sufficiently refined to answer pertinent questions when making treatment decisions in this challenging subgroup of pediatric patients. The imaging modalities at hand include conventional radiography, Doppler ultrasound, and magnetic resonance imaging with time-resolved, contrast-material enhanced magnetic resonance angiography. This review article will focus on the characteristic imaging features of some focal and diffuse vascular lesions, which have been classified by their clinical history and physical exam, and further labeled as a vascular tumor or slow-flow versus high-flow vascular malformation based on the updated classification system proposed by the International Society for the Study of Vascular Anomalies. The recent advances in knowledge regarding the biology of these vascular anomalies have led to increased awareness of the current nomenclature. Moreover, with better understanding of the imaging features, the radiologist has become a key player in the multidisciplinary approach offered at various institutions where appropriate treatment algorithms and interventional strategies are put together. This is crucial in avoiding misdiagnosis and improper management. PMID:25045332

  7. Update on the Molecular Genetics of Vascular Anomalies

    PubMed Central

    WANG, QING K.

    2006-01-01

    Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats’ disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. These findings have made genetic testing possible in some clinical cases, and may lead to the development of therapeutic strategies for vascular anomalies. Furthermore, these studies have identified critical genes involved in vascular morphogenesis, and provided fundamental understanding of the molecular mechanisms underlying vasculogenesis and angiogenesis. PMID:16379592

  8. Update on the molecular genetics of vascular anomalies.

    PubMed

    Wang, Qing K

    2005-01-01

    Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. These findings have made genetic testing possible in some clinical cases, and may lead to the development of therapeutic strategies for vascular anomalies. Furthermore, these studies have identified critical genes involved in vascular morphogenesis, and provided fundamental understanding of the molecular mechanisms underlying vasculogenesis and angiogenesis.

  9. Clinical Approaches to Vascular Anomalies of the Lip

    PubMed Central

    Ryu, Jeong Yeop; Lee, Joon Seok; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Cho, Byung Chae; Lee, Seok-Jong; Lee, Jong Min; Huh, Seung

    2015-01-01

    Background The incidence of vascular anomalies in the head and neck is higher than in the extremities. It is especially common for vascular anomalies to involve the lip. The lips are a functionally and aesthetically important component of the head and neck area. A retrospective analysis of data from our vascular anomaly center was performed in order to understand the characteristics and treatment requirements of vascular anomalies of the lip and to establish which treatments are likely to lead to the best outcomes. Methods A retrospective review was performed of the medical records of patients diagnosed with vascular anomalies of the upper or lower lip from January 2001 to September 2013. Using clinical photographs, radiologic findings, and patient records, the diagnosis of each case and the location of the vascular anomaly were recorded, along with information about treatment and follow-up. Results A total of 1,606 patients were diagnosed with vascular anomalies over this time period, of whom 127 (7.9%) were found to have vascular anomalies in the lip only. Surgical treatment with or without embolization, sclerotherapy, laser therapy, medication only, and observation were the treatment strategies adopted in these cases. Conclusions Vascular anomalies of the lip should be diagnosed accurately. Radiologic diagnosis played a crucial role in treatment planning, and several techniques were used to treat vascular anomalies of the lip. When surgical excision is indicated for the correction of vascular anomalies of the lip, the aesthetic and functional characteristics of the lip should be considered. PMID:26618117

  10. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

  11. A Review of Vascular Anomalies: Genetics and Common Syndromes

    PubMed Central

    Killion, Elizabeth; Mohan, Kriti; Lee, Edward I.

    2014-01-01

    Vascular tumors and malformations are unique in that affected cells exhibit disrupted angiogenesis. The current treatment options often yield suboptimal results. New insight into the genetics and molecular basis of vascular anomalies may pave the way for potential development of targeted therapy. The authors review the genetic and molecular basis of vascular anomalies and common associated syndromes. PMID:25045331

  12. Magnetic resonance imaging of pediatric soft-tissue vascular anomalies.

    PubMed

    Navarro, Oscar M

    2016-05-01

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

  13. Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies

    ClinicalTrials.gov

    2015-02-03

    Kaposiform Hemangioendotheliomas; Tufted Angioma; Capillary Venous Lymphatic Malformation; Venous Lymphatic Malformation; Microcystic Lymphatic Malformation; Mucocutaneous Lymphangiomatosis and Thrombocytopenia; Capillary Lymphatic Arterial Venous Malformations; PTEN Overgrowth Syndrome With Vascular Anomaly; Lymphangiectasia Syndromes

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

    PubMed Central

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

    2014-01-01

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

  15. Vascular anomalies of the head and neck in children.

    PubMed

    Mahady, Kate; Thust, Stefanie; Berkeley, Rupert; Stuart, Sam; Barnacle, Alex; Robertson, Fergus; Mankad, Kshitij

    2015-12-01

    Sixty percent of vascular anomalies in children are found in the head and neck. These lesions can present throughout antenatal, perinatal and childhood development. They broadly fall into two categories: vascular tumours and vascular malformations. Their clinical and, often, psychological impact is determined by both pathological type and location: many lesions follow an uncomplicated natural course and other more complex, extensive or progressive lesions can present a threat to life from mass effect, haemorrhage or large volume arteriovenous shunting. Vascular tumours include infantile haemangioma (IH), congenital haemangioma (CH) and kaposiform hemangioendothelioma (KH); of which IH is the most common. Management options for vascular tumours include conservative approaches, oral medications and surgical intervention as determined by tumour type, location and associated complications. Vascular malformations can be categorised into low flow and high flow lesions. Low flow lesions include capillary, venous and lymphatic malformations (LMs). High flow lesions describe the arteriovenous malformations (AVMs), a highly heterogeneous group of lesions which can present in a variety of ways-the mainstay of treatment for these dynamic lesions is endovascular or surgical obliteration. We provide a practical framework for clinical classification of vascular anomalies of the head and neck in children. We also explore principles of their clinical and radiological assessment along with management, highlighting the importance of a multi-disciplinary approach.

  16. Outcomes of Surgical Treatment of Vascular Anomalies on the Vermilion

    PubMed Central

    Park, Sang Min; Lee, Jae Woo; Kim, Hoon Soo; Lee, In Sook

    2016-01-01

    Background The vermilion plays an important role in both the aesthetic and functional aspects of facial anatomy. Due to its structural features, the complete excision of vascular anomalies on the vermilion is challenging, making it difficult to determine the appropriate treatment strategy. Thus, the authors analyzed the results of surgical treatment of vascular anomalies on the vermilion. Methods The medical records of 38 patients with vascular anomalies on the vermilion who underwent surgery from 1995 to 2013 were analyzed. Nine of the cases had an involuted hemangioma, and 29 cases had a vascular malformation; of the vascular malformations, 13, 11, one, and four cases involved were capillary malformations (CMs), venous malformations (VMs), lymphatic malformations (LMs), and arteriovenous malformations (AVMs), respectively. We investigated the surgical methods used to treat these patients, the quantity of surgical procedures, complications and instances of recurrence, and self-assessed satisfaction scores. Results A total of 50 operations were carried out: 28 horizontal partial excisions, eight vertical partial excisions, and 14 operations using other surgical methods. All cases of AVM underwent complete excision. Six cases experienced minor complications and one case of recurrence was observed. The overall average satisfaction score was 4.1 out of 5, while the satisfaction scores associated with each lesion type were 4.2 for hemangiomas, 3.9 for CMs, 4.2 for VMs, 5.0 for LMs, and 4.0 for AVMs. Conclusions It is difficult to completely excise vascular anomalies that involve the vermilion. This study suggests that partial excision focused on correcting the overall contour of the lips is effective and leads to satisfactory results. PMID:26848441

  17. Vascular Anomalies: From Genetics toward Models for Therapeutic Trials

    PubMed Central

    Uebelhoer, Melanie; Boon, Laurence M.; Vikkula, Miikka

    2012-01-01

    Vascular anomalies are localized abnormalities that occur during vascular development. Several causative genes have been identified not only for inherited but also for some sporadic forms, and the molecular pathways involved are becoming understood. This gives us the opportunity to generate animals carrying the causative genetic defects, which we hope model the phenotype seen in human patients. These models would enable us not only to test known antiangiogenic drugs, but also to develop novel approaches for treatment, directly targeting the mutated protein or molecules implicated in the pathophysiological signaling pathways. PMID:22908197

  18. Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

    PubMed Central

    Timur, A. A.; Driscoll, D. J.

    2006-01-01

    Vascular morphogenesis is a vital process for embryonic development, normal physiologic conditions (e.g. wound healing) and pathological processes (e.g. atherosclerosis, cancer). Genetic studies of vascular anomalies have led to identification of critical genes involved in vascular morphogenesis. A susceptibility gene, VG5Q (formally named AGGF1), was cloned for Klippel-Trenaunay syndrome (KTS). AGGF1 encodes a potent angiogenic factor, and KTS-associated mutations enhance angiogenic activity of AGGF1, defining ‘increased angiogenesis’ as one molecular mechanism for the pathogenesis of KTS. Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN. Future studies of vascular anomaly genes will provide insights into the molecular mechanisms for vascular morphogenesis, and may lead to the development of therapeutic strategies for treating these and other angiogenesis-related diseases, including coronary artery disease and cancer. PMID:15905966

  19. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment

    PubMed Central

    Nosher, John L; Murillo, Philip G; Liszewski, Mark; Gendel, Vyacheslav; Gribbin, Christopher E

    2014-01-01

    Vascular anomalies, including vascular malformations and tumors, are frequently straightforward to detect; however, accurate diagnosis and appropriate treatment are often challenging. Misdiagnosis of these lesions can lead clinicians in the wrong direction when treating these patients, which can have unfavorable results. This review presents an overview of the classification systems that have been developed for the diagnosis of vascular lesions with a focus on the imaging characteristics. Pictorial examples of each lesion on physical examination, as well as non-invasive and minimally invasive imaging are presented. An overview of the endovascular treatment of these lesions is also given. In some cases, vascular anomalies may be associated with an underlying syndrome and several of the most commonly encountered syndromes are discussed. Understanding of the classification systems, familiarity with the treatment options and knowledge of the associated syndromes are essential for all physicians working with this patient population. The approach to the described entities necessitates an organized multi-disciplinary team effort, with diagnostic imaging playing an increasingly important role in the proper diagnosis and a combined interventional radiologic and surgical treatment method showing promising results. PMID:25276311

  20. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  1. Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature.

    PubMed

    Rameshbabu, Chittapuram Srinivasan; Gupta, Kanchan Kumar; Qasim, Muhammad; Gupta, Om Prakash

    2015-07-01

    The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome.

  2. Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature

    PubMed Central

    Rameshbabu, Chittapuram Srinivasan; Gupta, Kanchan Kumar; Qasim, Muhammad; Gupta, Om Prakash

    2015-01-01

    The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome. PMID:26629295

  3. [Extracranial vascular anomalies (hemangiomas and vascular malformations) in children and adolescents--diagnosis, clinic, and therapy].

    PubMed

    Eivazi, B; Werner, J A

    2014-03-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  4. Phosphoinositide 3-kinase: a new kid on the block in vascular anomalies.

    PubMed

    Castillo, Sandra D; Vanhaesebroeck, Bart; Sebire, Neil J

    2016-12-01

    Vascular anomalies are broadly divided into vascular tumours and malformations. These lesions are composed of abnormal vascular elements of various types, and mainly affect infants, children, and young adults. Vascular anomalies may be painful, may be complicated by bleeding, infection, or organ dysfunction, and can have secondary effects on other tissues. Current treatment strategies include surgical excision, pulsed laser, and sclerotherapy, which are invasive, with risks of recurrence. There are growing pharmacological options for these vascular anomalies, but, to date, no specific targeted therapies have been developed. Phosphoinositide 3-kinases (PI3Ks) constitute a family of lipid kinases that are involved in signal transduction and vesicular traffic, and that modulate important cellular processes such as proliferation, growth, and migration. Recent findings have indicated that the PI3K signalling pathway is important in the pathogenesis of vascular anomalies. This provides an opportunity to use PI3K inhibitors, which are in clinical trials for cancer treatment, for such lesions. Here, we provide an update on the classification of vascular anomalies, with their major features, and discuss the role of the PI3K signalling pathway in the pathogenesis of vascular anomalies, and their clinical implications and therapeutic opportunities. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  5. Flyby Anomaly Test Integrating Multiple Approaches (FATIMA)

    NASA Technical Reports Server (NTRS)

    Levit, Creon; Jaroux, Belgacem Amar

    2014-01-01

    FATIMA is a mission concept for a small satellite to investigate the flyby anomaly - a possible velocity increase that has been observed in some earlier satellites when they have performed gravitational swingy maneuvers of the earth.

  6. Diagnosing vascular variability anomalies, not only MESOR-hypertension

    PubMed Central

    Halberg, Franz; Powell, Deborah; Otsuka, Kuniaki; Watanabe, Yoshihiko; Beaty, Larry A.; Rosch, Paul; Czaplicki, Jerzy; Hillman, Dewayne; Schwartzkopff, Othild

    2013-01-01

    Chronobiology is the study of biological rhythms. Chronomics investigates interactions with environmental cycles in a genetically coded autoresonance of the biosphere with wrangling space and terrestrial weather. Analytical global and local methods applied to human blood pressure records of around-the-clock measurements covering decades detect physiological-physical interactions, a small yet measurable response to solar and terrestrial magnetism. The chronobiological and chronomic interpretation of ambulatory blood pressure monitoring (C-ABPM) records in the light of time-specified reference values derived from healthy peers matched by sex and age identify vascular variability anomalies (VVAs) for an assessment of cardio-, cerebro-, and renovascular disease risk. Even within the conventionally accepted normal range, VVAs have been associated with a statistically significant increase in risk. Long-term C-ABPM records help to “know ourselves,” serving for relief of psychological and other strain once transient VVAs are linked to the source of a load, prompting adjustment of one's lifestyle for strain reduction. Persistent circadian VVAs can be treated, sometimes by no more than a change in timing of the daily administration of antihypertensive medication. Circadian VVA assessment is an emergency worldwide, prompted in the United States by 1,000 deaths per day every day from problems related to blood pressure. While some heads of state met under United Nation and World Health Organization sponsorship to declare that noncommunicable diseases are a slow-motion disaster, a resolution has been drafted to propose C-ABPM as an added tool complementing purely physical environmental monitoring to contribute also to the understanding of social and natural as well as personal cataclysms. PMID:23709604

  7. Congenital thoracic vascular anomalies: evaluation with state-of-the-art MR imaging and MDCT.

    PubMed

    Hellinger, Jeffrey C; Daubert, Melissa; Lee, Edward Y; Epelman, Monica

    2011-09-01

    Congenital thoracic vascular anomalies include embryologic developmental disorders of the thoracic aorta, aortic arch branch arteries, pulmonary arteries, thoracic systemic veins, and pulmonary veins. Diagnostic evaluation of these anomalies in pediatric patients has evolved with innovations in diagnostic imaging technology. State-of-the-art magnetic resonance (MR) imaging, MR angiography multidetector-row computed tomographic (MDCT) angiography, and advanced postprocessing visualization techniques offer accurate and reliable high-resolution two-dimensional and three-dimensional noninvasive anatomic displays for interpretation and clinical management of congenital thoracic vascular anomalies. This article reviews vascular MR imaging, MR angiography, MDCT angiography, and advanced visualization techniques and applications for the assessment of congenital thoracic vascular anomalies, emphasizing clinical embryology and the characteristic imaging findings.

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

    PubMed

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

    2016-07-01

    The development of multidetector computed tomography has triggered a revolution in the study of the aorta and other large vessels and has replaced angiography in the diagnosis of congenital anomalies of the aortic arch, particularly vascular rings. The major advantage of multidetector computed tomography is that it permits clear 3-dimensional assessment of not only vascular structures, but also airway and esophageal compression. The current update aims to summarize the embryonic development of the aortic arch and the developmental anomalies leading to vascular ring formation and to discuss the current diagnostic and therapeutic role of multidetector computed tomography in this field.

  9. Maternal abetalipoproteinemia resulting in multiple fetal anomalies.

    PubMed

    Seckeler, Michael D; Linden, Jennifer

    2008-01-01

    Abetalipoproteinemia is a rare genetic condition that results in an inability of the body to absorb dietary fats, including fat-soluble vitamins. Deficiencies of these vitamins are known to cause a wide range of clinical effects ranging from blindness to coagulopathy and neuropathy. We present the case of a child with multisystem anomalies born to a mother with abetalipoproteinemia and provide a brief review of the literature about vitamin A and fetal development. Mothers at high risk for vitamin deficiencies should be screened and counseled on the potential benefits, and risks, of vitamin supplementation.

  10. Enhanced expression of Programmed cell death 1 (PD-1) protein in benign vascular anomalies.

    PubMed

    Amaya, Clarissa N; Wians, Frank H; Bryan, Brad A; Torabi, Alireza

    2017-04-01

    Programmed cell death 1 (PD-1) and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the United States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently has approved anti-PD-L1 blocker for treatment of metastatic urothelial cell carcinoma. However, the role that the immune system might have on benign tumours including vascular anomalies has received less attention. In this study, we evaluated PD-1 and PD-L1 expression on two benign vascular anomalies: infantile haemangiomas and venous malformations. Tissue microarrays (TMAs) from these two entities were stained for PD-1 and PD-L1 antibodies. Blood vessels from normal tissue were used as control. The endothelial cells in both infantile haemangioma and venous malformation showed high expression of PD-1 but were negative for PD-L1. Endothelial cells within the blood vessels in normal tissues were negative for both PD-1 and PD-L1. Our results showed over-expression of PD-1 in subsets of vascular anomalies, while PD-L1 was negative. This would raise the possibility of immunotherapy in benign vascular tumour when other options are exhausted.

  11. Microfabrication of polydimethylsiloxane phantoms to simulate tumor hypoxia and vascular anomaly.

    PubMed

    Wu, Qiang; Ren, Wenqi; Yu, Zelin; Dong, Erbao; Zhang, Shiwu; Xu, Ronald X

    2015-01-01

    We introduce a microfluidic approach to simulate tumor hypoxia and vascular anomaly. Polydimethylsiloxane (PDMS) phantoms with embedded microchannel networks were fabricated by a soft lithography process. A dialysis membrane was sandwiched between two PDMS slabs to simulate the controlled mass transport and oxygen metabolism. A tortuous microchannel network was fabricated to simulate tumor microvasculature. A dual-modal multispectral and laser speckle imaging system was used for oxygen and blood flow imaging in the tumor-simulating phantom. The imaging results were compared with those of the normal vasculature. Our experiments demonstrated the technical feasibility of simulating tumor hypoxia and vascular anomalies using the proposed PDMS phantom. Such a phantom fabrication technique may be potentially used to calibrate optical imaging devices, to study the mechanisms for tumor hypoxia and angiogenesis, and to optimize the drug delivery strategies.

  12. Microfabrication of polydimethylsiloxane phantoms to simulate tumor hypoxia and vascular anomaly

    NASA Astrophysics Data System (ADS)

    Wu, Qiang; Ren, Wenqi; Yu, Zelin; Dong, Erbao; Zhang, Shiwu; Xu, Ronald X.

    2015-12-01

    We introduce a microfluidic approach to simulate tumor hypoxia and vascular anomaly. Polydimethylsiloxane (PDMS) phantoms with embedded microchannel networks were fabricated by a soft lithography process. A dialysis membrane was sandwiched between two PDMS slabs to simulate the controlled mass transport and oxygen metabolism. A tortuous microchannel network was fabricated to simulate tumor microvasculature. A dual-modal multispectral and laser speckle imaging system was used for oxygen and blood flow imaging in the tumor-simulating phantom. The imaging results were compared with those of the normal vasculature. Our experiments demonstrated the technical feasibility of simulating tumor hypoxia and vascular anomalies using the proposed PDMS phantom. Such a phantom fabrication technique may be potentially used to calibrate optical imaging devices, to study the mechanisms for tumor hypoxia and angiogenesis, and to optimize the drug delivery strategies.

  13. Multiple congenital anomalies: issues for birth defects surveillance.

    PubMed

    Evans, Jane A

    2014-01-01

    Approximately 1 in 200 individuals and 20 percent to 30 percent of those in whom any major structural malformation is found will have 2 or more serious and potentially unrelated birth defects. In addition to the challenges that multiple malformations create for affected persons, their families, and the health care system, appropriate surveillance of such complex patterns can be a concern for birth defects registries. This paper provides examples of how monitoring of multiple anomalies can be beneficial from clinical and public health perspectives; presents a staged approach to documentation of such defects, including suggestions for their coding; describes the types of patterns in which they occur; and discusses some of the unique issues that arise with respect to statistical analysis of multiple versus isolated birth defects.

  14. Urogenital Vascular Anomalies with Bilateral Kinking of Ureter: A Case Report

    PubMed Central

    Tadipi, Suresh; Sadashiv, Roshni; Muralidharan, Sangeeta; Pimid, Maegyvear

    2015-01-01

    Variations in the urogenital vascular anomalies in the abdomen are very common. However, they warrant attention due to their importance in operative, diagnostic, and endovascular procedures. During routine dissection of abdomen in a male cadaver, unique urogenital vascular anomalies were observed. On the right side, the right renal artery was found to be originated from the abdominal aorta at the level of L2 and divided into five branches; the right testicular artery and inferior suprarenal artery originated from the lower branch. We also observed, accessory renal artery arising from abdominal aorta at the level of L3 and double renal veins on right side. On the left side, we found left renal artery originating from the abdominal aorta at the level of L2 and divided into two branches. Double testicular (medial and lateral) arteries were also observed. In addition to these vascular variations, bilateral kinking of ureter at the pelviureteric junction was also observed. Although the variations in the origin of urogenital vessels in the abdomen are common, deeper understanding of the urogenital vascular variations and their relations to adjacent structures is significant during surgical and radiological procedures. PMID:28223889

  15. Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.

    PubMed

    Zhou, Mei; Jiang, Renbing; Zhao, Gang; Wang, Lisha; Wang, Hua; Li, Wenting; Li, Yiqun; Du, Xiang; Bai, Jingping

    2015-10-15

    Vascular anomalies included hemangiomas and vascular malformations (VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK),which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A>G (Y897C), 2740C>T (L914F), 2743C>T (R915C), and two nonsense mutations 2763G>A, 2688C>T, we identified Tie2 mutation in primary spinal VMs for the first time. Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P<0.01). This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed.

  16. Anomaly Detection in Multiple Scale for Insider Threat Analysis

    SciTech Connect

    Kim, Yoohwan; Sheldon, Frederick T; Hively, Lee M

    2012-01-01

    We propose a method to quantify malicious insider activity with statistical and graph-based analysis aided with semantic scoring rules. Different types of personal activities or interactions are monitored to form a set of directed weighted graphs. The semantic scoring rules assign higher scores for the events more significant and suspicious. Then we build personal activity profiles in the form of score tables. Profiles are created in multiple scales where the low level profiles are aggregated toward more stable higherlevel profiles within the subject or object hierarchy. Further, the profiles are created in different time scales such as day, week, or month. During operation, the insider s current activity profile is compared to the historical profiles to produce an anomaly score. For each subject with a high anomaly score, a subgraph of connected subjects is extracted to look for any related score movement. Finally the subjects are ranked by their anomaly scores to help the analysts focus on high-scored subjects. The threat-ranking component supports the interaction between the User Dashboard and the Insider Threat Knowledge Base portal. The portal includes a repository for historical results, i.e., adjudicated cases containing all of the information first presented to the user and including any additional insights to help the analysts. In this paper we show the framework of the proposed system and the operational algorithms.

  17. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

    PubMed

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  18. Anomaly-free multiple singularity enhancement in F-theory

    NASA Astrophysics Data System (ADS)

    Mizoguchi, Shun'ya; Tani, Taro

    2016-07-01

    We study global Calabi-Yau realizations of multiple singularity enhancement relevant to family-unification model building in F-theory. We examine the conditions under which the generation of extra chiral matter at multiple singularities on 7-branes in 6D F-theory can be consistent with anomaly cancellation. It is shown that the generation of extra matter is consistent only if it is accompanied by simultaneous degenerations of loci of the leading polynomial of the discriminant so that the total amount of chiral matter does not change. We also show that the number of singlets expected to arise matches the decrease of the complex structure moduli for the restricted geometry.

  19. 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,…

  20. Diffuse lipofibromatosis of the lower extremity masquerading as a vascular anomaly.

    PubMed

    Greene, Arin K; Karnes, Julie; Padua, Horacio M; Schmidt, Birgitta A; Kasser, James R; Labow, Brian I

    2009-06-01

    Lipofibromatosis is a slow-growing, childhood soft-tissue neoplasm that is often confused with other conditions. We report a patient with lipofibromatosis causing extremity enlargement at birth. The lesion initially was thought to be a vascular anomaly or lipedema on clinical and MRI examination. When involving the lower extremity, diffuse lipofibromatosis must be differentiated from more common causes of lower limb enlargement in children: lymphatic malformation, lymphedema, or lipedema. Compared with these more frequent conditions, lipofibromatosis usually causes less morbidity. Management of the tumor includes observation or excision. Because complete extirpation of the lesion is difficult, the recurrence rate is high.

  1. Multiple hereditary ocular anomalies in a herd of cattle.

    PubMed

    Kaswan, R L; Collins, L G; Blue, J L; Martin, C L

    1987-07-01

    A Brahman x Santa Gertrudis herd of cows bred to a Hereford bull was evaluated because of a 3-year history of several calves born with congenital blindness. Multiple congenital ocular anomalies in 2 calves included microphthalmos, microcornea, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis, acorea, and proliferation of the anterior neuroectoderm. On the basis of the lack of environmental factors and persistence of an intermittent problem when breeding to a single bull, a genetic defect was diagnosed as the probable cause. Dominant inheritance with varied expressivity may have best explained the lack of obvious signs in the bull, with emergence of various anterior and posterior segment defects in offspring from unrelated cows.

  2. Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

    PubMed

    Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

    2016-07-01

    Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS.

  3. Rare Vascular Anomalies in the Femoral Triangle During Varicose Vein Surgery

    PubMed Central

    Kim, Duk Sil; Kim, Sung Wan; Lee, Hyun Seok; Byun, Kyung Hwan; Choe, Michael SungPil

    2017-01-01

    Background We observed several cases of rare vascular anomalies within the femoral triangle during varicose vein operations. Methods From among 2,093 patients who underwent stripping operations of the great saphenous vein between January 2002 and June 2016, 14 cases of rare vascular anomalies were enrolled in this study. Results Twelve cases of femoral artery and vein transposition (0.57%), 1 case of separate entrance of the great saphenous vein trunk and its tributaries (0.05%), and 1 case of separate entrance with femoral artery and vein transposition (0.05%) were observed. The preoperative diagnosis rate was 71% (10 of 14) using duplex ultrasound. In all cases of femoral artery and vein transposition, the saphenofemoral junction was located at the lateral or posterolateral side of the superficial femoral artery, corresponding to complete or incomplete transposition, respectively. Among the 12 cases of femoral artery and vein transposition, 5 cases were complete transposition and 7 cases were incomplete transposition. In 2 cases of separate entrance of the great saphenous vein trunk and its tributaries, the separated tributaries formed a common trunk before connecting to the femoral vein. Conclusion The anatomy of the saphenofemoral junction may infrequently be altered in some individuals. Detailed preoperative sonographic examinations and meticulous groin dissection during the operation are necessary to prepare for unexpected anatomical variations. PMID:28382268

  4. Unusual vascular ring anomaly associated with a persistent right aortic arch in two dogs.

    PubMed

    House, A K; Summerfield, N J; German, A J; Noble, P J M; Ibarrola, P; Brockman, D J

    2005-12-01

    An unusual vascular ring anomaly consisting of a persistent right aortic arch and a left ligamentum arteriosum extending from the main pulmonary artery to an aberrant left subclavian artery and left aortic arch remnant complex was identified in a German shepherd dog and a great Dane. The left subclavian artery and left aortic arch remnant complex originated at the junction between the right distal aortic arch and the descending aorta and coursed dorsal to the oesophagus in a cranial direction. The attachment of the ligamentum arteriosum to the aberrant left subclavian artery was approximately 5 cm cranial to the point of origin of the aberrant left subclavian artery and left aortic arch remnant complex from the descending aorta in both dogs. This anomaly observed in both dogs is similar to an anomaly reported in humans, in which a persistent right aortic arch is found in conjunction with an aberrant left subclavian artery and a left aortic arch remnant (Kommerell's diverticulum). Surgical ligation and division of the left ligamentum arteriosum in both dogs, along with division of the left subclavian artery in the great Dane, resulted in resolution of clinical signs in both of the dogs in this report.

  5. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

    PubMed

    Wooderchak-Donahue, Whitney L; McDonald, Jamie; O'Fallon, Brendan; Upton, Paul D; Li, Wei; Roman, Beth L; Young, Sarah; Plant, Parker; Fülöp, Gyula T; Langa, Carmen; Morrell, Nicholas W; Botella, Luisa M; Bernabeu, Carmelo; Stevenson, David A; Runo, James R; Bayrak-Toydemir, Pinar

    2013-09-05

    Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT.

  6. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

    PubMed

    Teo, Mario; Johnson, Jeremiah N; Bell-Stephens, Teresa E; Marks, Michael P; Do, Huy M; Dodd, Robert L; Bober, Michael B; Steinberg, Gary K

    2016-12-01

    OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD

  7. Flow effects of blood constitutive equations in 3D models of vascular anomalies

    NASA Astrophysics Data System (ADS)

    Neofytou, Panagiotis; Tsangaris, Sokrates

    2006-06-01

    The effects of different blood rheological models are investigated numerically utilizing two three- dimensional (3D) models of vascular anomalies, namely a stenosis and an abdominal aortic aneurysm model. The employed CFD code incorporates the SIMPLE scheme in conjunction with the finite-volume method with collocated arrangement of variables. The approximation of the convection terms is carried out using the QUICK differencing scheme, whereas the code enables also multi-block computations, which are useful in order to cope with the two-block grid structure of the current computational domain. Three non-Newtonian models are employed, namely the Casson, Power-Law and Quemada models, which have been introduced in the past for modelling the rheological behaviour of blood and cover both the viscous as well as the two-phase character of blood. In view of the haemodynamical mechanisms related to abnormalities in the vascular network and the role of the wall shear stress in initiating and further developing of arterial diseases, the present study focuses on the 3D flow field and in particular on the distribution as well as on both low and high values of the wall shear stress in the vicinity of the anomaly. Finally, a comparison is made between the effects of each rheological model on the aforementioned parameters. Results show marked differences between simulating blood as Newtonian and non-Newtonian fluid and furthermore the Power-Law model exhibits different behaviour in all cases compared to the other models whereas Quemada and Casson models exhibit similar behaviour in the case of the stenosis but different behaviour in the case of the aneurysm.

  8. Multidetector-row computed tomography of thoracic aortic anomalies in dogs and cats: Patent ductus arteriosus and vascular rings

    PubMed Central

    2011-01-01

    Background Diagnosis of extracardiac intrathoracic vascular anomalies is of clinical importance, but remains challenging. Traditional imaging modalities, such as radiography, echocardiography, and angiography, are inherently limited by the difficulties of a 2-dimensional approach to a 3-dimensional object. We postulated that accurate characterization of malformations of the aorta would benefit from 3-dimensional assessment. Therefore, multidetector-row computed tomography (MDCT) was chosen as a 3-dimensional, new, and noninvasive imaging technique. The purpose of this study was to evaluate patients with 2 common diseases of the intrathoracic aorta, either patent ductus arteriosus or vascular ring anomaly, by contrast-enhanced 64-row computed tomography. Results Electrocardiography (ECG)-gated and thoracic nongated MDCT images were reviewed in identified cases of either a patent ductus arteriosus or vascular ring anomaly. Ductal size and morphology were determined in 6 dogs that underwent ECG-gated MDCT. Vascular ring anomalies were characterized in 7 dogs and 3 cats by ECG-gated MDCT or by a nongated thoracic standard protocol. Cardiac ECG-gated MDCT clearly displayed the morphology, length, and caliber of the patent ductus arteriosus in 6 affected dogs. Persistent right aortic arch was identified in 10 animals, 8 of which showed a coexisting aberrant left subclavian artery. A mild dilation of the proximal portion of the aberrant subclavian artery near its origin of the aorta was present in 4 dogs, and a diverticulum analogous to the human Kommerell's diverticulum was present in 2 cats. Conclusions Contrast-enhanced MDCT imaging of thoracic anomalies gives valuable information about the exact aortic arch configuration. Furthermore, MDCT was able to characterize the vascular branching patterns in dogs and cats with a persistent right aortic arch and the morphology and size of the patent ductus arteriosus in affected dogs. This additional information can be of help

  9. Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

    PubMed

    Antonov, Nina K; Spence-Shishido, Allyson; Marathe, Kalyani S; Tlougan, Brook; Kazim, Michael; Sultan, Sally; Hess, Christopher P; Morel, Kimberly D; Frieden, Ilona J; Garzon, Maria C

    2015-01-01

    We present two cases of infants with a similar constellation of clinical findings: retro-orbital infantile hemangioma (IH), internal carotid artery (ICA) arteriopathy, and intracranial IH. In both cases, intracranial vascular anomalies and hemangiomas were found incidentally during evaluation of unilateral proptosis. Neither infant had evidence of cutaneous segmental IH of the face or neck, which might have provided a clue to the diagnosis of PHACE syndrome or of intracranial hemangiomas. In one case, intracranial involvement was particularly extensive and function threatening, with mass effect on the brain parenchyma. These cases serve to highlight the fact that clinical findings of proptosis, globe deviation, and strabismus should prompt immediate imaging to confirm the presence of orbital IHs and to exclude other diagnoses. Moreover, based on our cases and the embryologic origin of the orbit as a unique developmental unit, patients with confirmed retro-orbital IHs should undergo evaluation for anomalies associated with PHACE syndrome. Patients with orbital IHs and an additional major criterion for PHACE syndrome should be considered to have definite, and not just possible, PHACE syndrome.

  10. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

    PubMed Central

    Reinstein, Eyal; Frentz, Sophia; Morgan, Tim; García-Miñaúr, Sixto; Leventer, Richard J; McGillivray, George; Pariani, Mitchel; van der Steen, Anthony; Pope, Michael; Holder-Espinasse, Muriel; Scott, Richard; Thompson, Elizabeth M; Robertson, Terry; Coppin, Brian; Siegel, Robert; Bret Zurita, Montserrat; Rodríguez, Jose I; Morales, Carmen; Rodrigues, Yuri; Arcas, Joaquín; Saggar, Anand; Horton, Margaret; Zackai, Elaine; Graham, John M; Rimoin, David L; Robertson, Stephen P

    2013-01-01

    Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance. PMID:23032111

  11. From germline towards somatic mutations in the pathophysiology of vascular anomalies

    PubMed Central

    Limaye, Nisha; Boon, Laurence M.; Vikkula, Miikka

    2009-01-01

    The localized structural abnormalities that arise during vasculogenesis, angiogenesis and lymphangiogenesis, the developmental processes which give rise to the adult vasculature, are collectively termed vascular anomalies. The last 2 years have seen an explosion of studies that underscore paradominant inheritance, the combination of inherited changes with somatic second-hits to the same genes, as underlying rare familial forms. Moreover, local, somatic genetic defects that cause some of the common sporadic forms of these malformations have been unraveled. This highlights the importance of assessing for tissue-based genetic changes, especially acquired genetic changes, as possible pathophysiological causes, which have been largely overlooked except in the area of cancer research. Large-scale somatic screens will therefore be essential in uncovering the nature and prevalence of such changes, and their downstream effects. The identification of disease genes combined with exhaustive, precise clinical delineations of the entire spectra of associated phenotypes guides better management and genetic counseling. Such a synthesis of information on functional and phenotypic effects will enable us to make and use animal models to test less invasive, targeted, perhaps locally administered, biological therapies. PMID:19297403

  12. Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    PubMed Central

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients’ mutations suggest a genotype–phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. PMID:26394714

  13. Four miniature kidneys: supernumerary kidney and multiple organ system anomalies.

    PubMed

    Afrouzian, Marjan; Sonstein, Joseph; Dadfarnia, Tahereh; Sreshta, J Nicholas; Hawkins, Hal K

    2014-05-01

    More than 350 years after Martius's first reported case in 1656, supernumerary kidney (SNK) continues to fascinate the world of medicine, generating new ideas in the domain of embryogenesis. Association of a normal kidney with a second or third ipsilateral smaller kidney is an extremely rare anomaly with only a total of 81 cases reported until today. We are reporting a case of SNK, clinically diagnosed as right hydronephrosis, associated with an ipsilateral ectopic ureter, a contralateral partially duplicated ureter, and a multiseptate gallbladder. Pathologic examination of the nephrectomy revealed 4 miniature kidneys, joining a dilated ureter through 4 separate conduits. Our patient is the first reported case of SNK with absent ipsilateral normal kidney, presence of more than 3 kidneys on 1 side, and associated anomaly in the gallbladder. This case represents a unique combination of rarities, suggesting insights in the domain of molecular embryology.

  14. Multiple congenital genitourinary anomalies in a polled goat.

    PubMed

    King, William W; Young, Melvin E; Fox, M Eugene

    2002-09-01

    A 1-day-old, Toggenburg/Nubian crossbred goat of polled parentage was referred for necropsy because of a large (diameter, 5 cm) bladder-like mass protruding from the perineal midline and difficult urination. Differential diagnoses included cutaneous cyst, ectopic urinary bladder, and urethral diverticulum/dilatation. Several genitourinary aberrations were noted. A second, smaller (diameter, 1 cm), more distal cystic structure was adjacent to an ambiguous prepuce. Testicles were discovered within a constricted, subcutaneous space near the inguinal canals. A rudimentary penis was located dorsal to the penile urethra with no appreciable urethral process. A tiny external urethral orifice was discerned only after liquid was injected into the lumen of the cystic structures, confirming their identity as urethral dilatations. The dilatations were separated by a constricting band of fibrous tissue. No other significant findings were detected. This case illustrates a combination of congenital anomalies including bilateral cryptorchidism with scrotal absence, segmental urethral hypoplasia, and urethral dilatation, most likely associated with the intersex condition seen in polled breeds. The continued production and use of small ruminants as animal models demands the prompt recognition of congenital anomalies. This case also exemplifies the precautions required when breeding goats with polled ancestry.

  15. Pancreatic hemangioendothelioma, an extremely rare vascular anomaly in children: A case report and literature review

    PubMed Central

    WANG, XIANG; XIONG, QIXING

    2015-01-01

    The current study presents the case of a female infant with pancreatic hemangioendothelioma (HE) and discusses this rare disease in terms of the clinical features, treatment principle and prognosis. An 8-month-old female with pancreatic HE was admitted to the Department of General Surgery in The Children's Hospital (Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) on January 3, 2011, due to yellow skin and sclera that had been apparent for 1 week. Magnetic resonance imaging (MRI) showed dilatation in the left and right hepatic, common hepatic and common bile ducts, a pancreatic head mass of ~4.7×5.2 cm with a strong signal, and close linkage of the portal vein and mesenteric vessels to the mass. Laparotomy was performed on January 11, 2011. An intraoperative frozen specimen showed a benign tumor. Finally, Whipple surgery retaining the tumor was chosen. The patient was treated by fasting, gastrointestinal decompression, antibiotics and supportive treatment post-surgery. Jaundice disappeared rapidly following the surgery. The patient started eating at 1 week post-surgery and was discharged 1 week later. From the pathological results, a diagnosis of pancreatic HE was made, with no tumor invasion of the hepatic lymph nodes. During the follow-up visit at 28 months post-surgery, the child showed good growth and development. MRI showed that the mass size was ~2.4×2.0×1.5 cm, which was a significantly decrease from previously. Additionally, a literature search showed that from 1973 to the present date, only 9 studies on children with HE of the pancreas have been reported. Childhood pancreatic HE is a rare form of pancreatic vascular anomaly, mainly occurring in infants. If the tumor oppresses the duodenum and invades the mesenteric vessels, Whipple surgery retaining the tumor could be performed. PMID:26622572

  16. Vascular comorbidities in multiple sclerosis: a nationwide study from Denmark.

    PubMed

    Thormann, Anja; Magyari, Melinda; Koch-Henriksen, Nils; Laursen, Bjarne; Sørensen, Per Soelberg

    2016-12-01

    To investigate the occurrence of vascular comorbidities before and after the clinical onset of multiple sclerosis. In this combined case-control and cohort study, all Danish born citizens with onset of multiple sclerosis 1980-2005 were identified from the Danish Multiple Sclerosis Registry and randomly matched with controls regarding year of birth, gender, and municipality on January 1st in the year of multiple sclerosis (MS) onset (index date). Individual-level information on comorbidities was obtained from several independent nationwide registries and linked to the study population by unique personal identification numbers. To assess the presence of vascular comorbidities before and after MS onset, cases and controls were followed from January 1977 to the index date, and from the index date through December 2012. We used logistic regression to calculate odds ratios (ORs) and Cox regression to calculate hazard ratios (HRs). Before the index date, MS cases had a decreased probability for cerebrovascular comorbidity [OR 0.69 (95 % CI 0.48-0.99, p = 0.043)], and a numerically but not statistically significant decreased probability for cardiovascular comorbidity [OR 0.87 (95 % CI 0.71-1.07, p = 0.188)]. After the index date, MS cases had an increased risk for cerebrovascular comorbidity [HR 1.84 (95 % CI 1.69-2.00, p < 0.0005)], and for cardiovascular comorbidity [HR 1.08 (95 % CI 1.02-1.15, p = 0.013)]. The lower occurrence of cerebrovascular comorbidities in cases prior to MS onset could be due to protective immune mechanisms, while the higher occurrence of vascular comorbidities in cases after MS onset could be because of converging causal pathways of the coexisting diseases. These findings deserve to be studied closer in a broader spectrum of comorbidities in MS.

  17. Autonomous detection of crowd anomalies in multiple-camera surveillance feeds

    NASA Astrophysics Data System (ADS)

    Nordlöf, Jonas; Andersson, Maria

    2016-10-01

    A novel approach for autonomous detection of anomalies in crowded environments is presented in this paper. The proposed models uses a Gaussian mixture probability hypothesis density (GM-PHD) filter as feature extractor in conjunction with different Gaussian mixture hidden Markov models (GM-HMMs). Results, based on both simulated and recorded data, indicate that this method can track and detect anomalies on-line in individual crowds through multiple camera feeds in a crowded environment.

  18. MULTIPLE ORIGINS OF NITROGEN ISOTOPIC ANOMALIES IN METEORITES AND COMETS

    SciTech Connect

    Aleon, Jerome

    2010-10-20

    Isotopic fractionation and mixing calculations compared with coupled hydrogen and nitrogen isotopic composition of organic molecules from primitive chondrites, interplanetary dust particles (IDPs), and comets C/1995 O1 (Hale-Bopp) and 81P/Wild2 reveal that meteoritic and cometary organic matter contains three different isotopic components of different origins. (1) A major component of carbonaceous chondrites, IDPs, and comets Hale-Bopp and Wild2 shows correlated H and N isotopic compositions attributable to isotope exchange between an organic matter of solar composition and a reservoir formed by ion-molecule reactions at T < 25 K under conditions where competing reactions are strongly inhibited, possibly in the final evolutionary stages of the presolar cloud core, or more likely in the coldest outer regions of the solar protoplanetary disk. (2) In carbonaceous chondrites, IDPs, and comet Wild2, this component is mixed with a {sup 15}N-rich component having identical {sup 15}N and D enrichments relative to the protosolar gas. Temperatures > 100 K deduced from the low D/H ratio and an anti-correlation between the abundance of this component and meteoritic age indicate a late origin in the solar protoplanetary disk. N{sub 2} self-shielding and the non-thermal nucleosynthesis of {sup 15}N upon irradiation are possible but unlikely sources of this component, and a chemical origin is preferred. (3) An interstellar component with highly fractionated hydrogen isotopes and unfractionated nitrogen isotopes is present in ordinary chondrites. A dominantly solar origin of D and {sup 15}N excesses in primitive solar system bodies shows that isotopic anomalies do not necessarily fingerprint an interstellar origin and implies that only a very small fraction of volatile interstellar matter survived the events of solar system formation.

  19. Identification of Interplanetary Coronal Mass Ejections at 1 AU Using Multiple Solar Wind Plasma Composition Anomalies

    NASA Technical Reports Server (NTRS)

    Richardson, I. G.; Cane, H. V.

    2004-01-01

    We investigate the use of multiple simultaneous solar wind plasma compositional anomalies, relative to the composition of the ambient solar wind, for identifying interplanetary coronal mass ejection (ICME) plasma. We first summarize the characteristics of several solar wind plasma composition signatures (O(+7)/O(+6), Mg/O, Ne/O, Fe charge states, He/p) observed by the ACE and WIND spacecraft within the ICMEs during 1996 - 2002 identsed by Cane and Richardson. We then develop a set of simple criteria that may be used to identify such compositional anomalies, and hence potential ICMEs. To distinguish these anomalies from the normal variations seen in ambient solar wind composition, which depend on the wind speed, we compare observed compositional signatures with those 'expected' in ambient solar wind with the same solar wind speed. This method identifies anomalies more effectively than the use of fixed thresholds. The occurrence rates of individual composition anomalies within ICMEs range from approx. 70% for enhanced iron and oxygen charge states to approx. 30% for enhanced He/p (> 0.06) and Ne/O, and are generally higher in magnetic clouds than other ICMEs. Intervals of multiple anomalies are usually associated with ICMEs, and provide a basis for the identification of the majority of ICMEs. We estimate that Cane and Richardson, who did not refer to composition data, probably identitied approx. 90% of the ICMEs present. However, around 10% of their ICMEs have weak compositional anomalies, suggesting that the presence of such signatures does not provide a necessary requirement for an ICME. We note a remarkably similar correlation between the Mg/O and O(7)/O(6) ratios in hourly-averaged data both within ICMEs and the ambient solar wind. This 'universal' relationship suggests that a similar process (such as minor ion heating by waves inside coronal magnetic field loops) produces the first-ionization potential bias and ion freezing-in temperatures in the source regions

  20. Multiple scattering in a dark material - an anomaly

    NASA Astrophysics Data System (ADS)

    Smythe, W. D.; Nelson, R. M.; Hapke, B. W.; Hale, A. S.; Piatek, J. A.

    2002-12-01

    albedo is not only parameter determining the amount of multiple scattering in the medium. This unusual behavior is as yet unexplained; one conjecture is that a unique particle shape may create a very unusual single scattering phase function in boron carbide. It is important to understand this unusual behavior and its implications for models that retrieve surface textural properties from remote sensing data. This work performed at JPL under a contract from NASA's Planetary Geology and Geophysics Program. 1. Geherels, T. Astrophys. J, 123, 331-338, 1956 2. Hapke, B. W. Icarus, 67, 264-280, 1986 3. Shkuratov, Yu. SA-A.J., 27, 581-583, 1983 4. Hapke, B.W. Icarus, 88, 264-280, 1986 5. Nelson, R. M., B. W. Hapke, W. D. Smythe, L. J. Horn. Icarus 131, 223-230, 1998 6. Nelson, R. M., B. W. Hapke, W. D. Smythe, L. J. Spilker. Icarus, 147, 545-558, 2000 7. Nelson, R. M., W. D. Smythe, B. W. Hapke, A. S. Hale. to appear in Planet. Space Sci, 2002

  1. Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

    PubMed

    Yano, S; Oda, K; Watanabe, Y; Watanabe, S; Matsuishi, T; Kojima, K; Abe, T; Kato, H

    1998-08-06

    Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

  2. Multiple cardiac anomaly in sheep: a case study and review of the literature.

    PubMed

    Balogh, Emese; Sótonyi, P

    2003-01-01

    A multiple cardiac anomaly in sheep is presented to show how complicated the result of abnormal development can be. The heart of a 12-hour-old sheep was fixed in 8% formaldehyde solution and subsequently dissected by an anatomical method, and the abnormalities were recorded on digital pictures. The abnormal anatomy is described and compared with the simple developmental anomalies. Developmental abnormalities were found in the distal portion of the bulbus, the aortic arches and the interatrial septum. A special type of the double-outlet right ventricle was observed, which was not a real double-outlet ventricle because it occurred in combination with pulmonary atresia. Coarctation of the aorta was seen, the ductus arteriosus was absent, and there were five vessels originating from the aortic arch instead of one vessel seen in normal cases, as a result of the abnormal development of the aortic arches.

  3. Vascular Multiplicity Should Not Be a Contra-Indication for Live Kidney Donation and Transplantation

    PubMed Central

    van Bruggen, Mark; Kimenai, Hendrikus J. A. N.; Tran, Thi C. K.; Terkivatan, Türkan; Betjes, Michiel G. H.; IJzermans, Jan N. M.; Dor, Frank J. M. F.

    2016-01-01

    Background Whether vascular multiplicity should be considered as contraindication and therefore ‘extended donor criterion’ is still under debate. Methods Data from all live kidney donors from 2006–2013 (n = 951) was retrospectively reviewed. Vascular anatomy as imaged by MRA, CTA or other modalities was compared with intraoperative findings. Furthermore, the influence of vascular multiplicity on outcome of donors and recipients was studied. Results In 237 out of 951 donors (25%), vascular multiplicity was present. CTA had the highest accuracy levels regarding vascular anatomy assessment. Regarding outcome of donors with vascular multiplicity, warm ischemia time (WIT) and skin-to-skin time were significantly longer if arterial multiplicity (AM) was present (5.1 vs. 4.0 mins and 202 vs. 178 mins). Skin-to-skin time was significantly longer, and complication rates were higher in donors with venous multiplicity (203 vs. 180 mins and 17.2% vs. 8.4%). Outcome of renal transplant recipients showed a significantly increased WIT (30 vs. 26.7 minutes), higher rate of DGF (13.9% vs. 6.9%) and lower rate of BPAR (6.9% vs. 13.9%) in patients receiving a kidney with AM compared to kidneys with singular anatomy. Conclusions We conclude that vascular multiplicity should not be a contra-indication, since it has little impact on clinical outcome in the donor as well as in renal transplant recipients. PMID:27077904

  4. Congenital vascular malformation associated with multiple cranial, vertebral and upper limb skeletal abnormalities.

    PubMed

    Marsden, N; Shokrollahi, K; Maw, K; Sierakowski, A; Bhat, F A; Mathur, B

    2010-07-01

    The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel-Trenaunay, Parkes-Weber and Servelle-Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb, and discuss the literature.

  5. An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

    PubMed

    Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

    2014-01-01

    Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.

  6. Multiple Developmental Dental Anomalies in a Non-Syndromic Patient: Report of a Rare Simultaneous Occurrence

    PubMed Central

    Ghasempour, Maryam; Hemmati, Samane; Mooudi, Ehsan

    2015-01-01

    A case of multiple pulp stones, a supernumerary tooth and a congenitally missing tooth accompanied by several developmental dental anomalies concurrently affecting the upper and lower anterior teeth in an Iranian healthy girl is reported. Developmental tooth abnormalities are usually found in conjunction with certain diseases or conditions. In the present case, although the patient had consanguineous parents and the role of genetics should be considered particularly for autosomal recessive traits, based on the child’s family and medical history, no correlation could be established between dental findings and systemic or metabolic diseases. PMID:26877734

  7. Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases

    PubMed Central

    Komáromy, András M.; Rowlan, Jessica S.; La Croix, Noelle C.; Mangan, Brendan G.

    2011-01-01

    Objective To describe the clinical phenotype and genetics of equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies. Animals studied Five presumably unrelated ponies. Procedures The ponies were examined under field conditions in their barn by slit lamp biomicroscopy, indirect ophthalmoscopy, and applanation tonometry. Blood was collected and genomic DNA extracted for MCOA genotyping using the PMEL17ex11 marker. Results One pony solely presented with temporal ciliary body cysts, suggestive of the less severe Cyst phenotype of MCOA; the animal was heterozygous at the MCOA locus. Multiple bilateral anterior segment anomalies were identified in four ponies, consistent with the more severe MCOA phenotype characterized by cornea globosa, iris hypoplasia, encircling granula iridica along the pupillary ruff, and cataracts. These animals were homozygous for the mutant MCOA allele. Four of the ponies had a silver dapple or chocolate coat color with white or flaxen manes and tails. Silver dappling was masked by the palomino coloring of a 5th pony that was homozygous at the MCOA locus. Conclusions The MCOA syndrome can be seen in ponies. The results of both clinical evaluation and genotyping resembled the previously described MCOA of both Rocky Mountain and Kentucky Mountain Saddle horses. PMID:21929608

  8. Glomerular filtration rate and renal volume in dogs with congenital portosystemic vascular anomalies before and after surgical ligation.

    PubMed

    Deppe, T A; Center, S A; Simpson, K W; Erb, H N; Randolph, J F; Dykes, N L; Yeager, A E; Reynolds, A J

    1999-01-01

    Glomerular filtration rate (GFR) and renal volume were evaluated in dogs with confirmed portosystemic vascular anomalies (PSVA) before and after surgical ligation of their PSVA. Pre- and postligation CBC, serum biochemistry, urinalysis, abdominal ultrasonography with measurement of renal volume, and per rectal scintigraphy were performed to document resolution of abnormalities consistent with portosystemic shunting. GFR was estimated by plasma 99mTc-diethylenetriaminepentaacetic acid (99mTc-DTPA) clearance before (n = 21) and after (n = 12) surgical correction of PSVA. Preligation 99mTc-DTPA GFR was increased (median, 5.64 mL/minute/kg; range, 3.53-8.49 mL/minute/kg; reference range, 2.83-4.47 mL/minute/kg) in 81% (17/21) of dogs. Postligation 99mTc-DTPA GFR decreased in all 12 evaluated dogs (median change = -42%; P < .001). Preligation renal volume was above the reference range for the left and right kidneys in 71% (10/14) and 69% (11/16) of dogs evaluated, respectively. Right renal volume decreased significantly (n = 5; median change, -45%; P = .03) after surgical ligation of PSVA. These findings document increased GFR and renal volume in dogs with PSVA, which may explain in part the low blood urea nitrogen and serum creatinine concentrations encountered in these dogs. Knowledge of changes in GFR associated with PSVA ligation may prove helpful in the anesthetic, drug, and dietary management of affected dogs.

  9. Pancreatectomy for carcinoma of the head of the pancreas associated with multiple anomalies including the preduodenal portal vein.

    PubMed

    Matsusue, S; Kashihara, S; Koizumi, S

    1984-09-01

    Total pancreatectomy was performed for carcinoma of the head of the pancreas associated with multiple anomalies in the peripancreatic region and of the pancreas. The anomalies were preduodenal portal vein, annular pancreas with agenesis of the dorsal pancreas, left-sided gallbladder, polysplenia and high mobile right colon. The surgical implications of pancreatectomy for such anatomical abnormalities, especially preduodenal portal vein, and the usefulness of ultrasonography for the preoperative evaluation are given attention.

  10. Reconstruction of the lids of a child with microblepharon and multiple congenital anomalies.

    PubMed Central

    Merriam, J C; Stalnecker, M C; Merriam, G R

    1988-01-01

    The initial stages in the rehabilitation of a male child with severe microblepharon, corneal opacities, bilateral facial clefts, bilateral complete cleft lip and palate, and unilateral syndactyly are described. Review of the literature suggests that severe microblepharon is associated with other craniofacial anomalies, and often the child is stillborn or retarded. Surviving children have been abandoned because of their appearance. The child described in this case appears to be unique because his intelligence is normal, and, to our knowledge, this is the first reported case of penetrating keratoplasty after reconstruction of functional eyelids. The principal problems after corneal grafting appear to have been chronic partial exposure due to inadequate lid length and a poor Bell's reflex and the persistence of a rim of vascularized fibrous tissue around the corneal graft. Future reconstructive surgery is outlined. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 FIGURE 20 FIGURE 21 FIGURE 22 PMID:2979029

  11. Multiple Kernel Learning for Heterogeneous Anomaly Detection: Algorithm and Aviation Safety Case Study

    NASA Technical Reports Server (NTRS)

    Das, Santanu; Srivastava, Ashok N.; Matthews, Bryan L.; Oza, Nikunj C.

    2010-01-01

    The world-wide aviation system is one of the most complex dynamical systems ever developed and is generating data at an extremely rapid rate. Most modern commercial aircraft record several hundred flight parameters including information from the guidance, navigation, and control systems, the avionics and propulsion systems, and the pilot inputs into the aircraft. These parameters may be continuous measurements or binary or categorical measurements recorded in one second intervals for the duration of the flight. Currently, most approaches to aviation safety are reactive, meaning that they are designed to react to an aviation safety incident or accident. In this paper, we discuss a novel approach based on the theory of multiple kernel learning to detect potential safety anomalies in very large data bases of discrete and continuous data from world-wide operations of commercial fleets. We pose a general anomaly detection problem which includes both discrete and continuous data streams, where we assume that the discrete streams have a causal influence on the continuous streams. We also assume that atypical sequence of events in the discrete streams can lead to off-nominal system performance. We discuss the application domain, novel algorithms, and also discuss results on real-world data sets. Our algorithm uncovers operationally significant events in high dimensional data streams in the aviation industry which are not detectable using state of the art methods

  12. Quantitative Integration of Multiple Geophysical Techniques for Reducing Uncertainty in Discrete Anomaly Detection

    NASA Astrophysics Data System (ADS)

    Carr, M. C.; Baker, G. S.; Herrmann, N.; Yerka, S.; Angst, M.

    2008-12-01

    The objectives of this project are to (1) utilize quantitative integration of multiple geophysical techniques, (2) determine geophysical anomalies that may indicate locations of various archaeological structures, and (3) develop techniques of quantifying causes of uncertainty. Two sites are used to satisfy these objectives. The first, representing a site with unknown target features, is an archaeological site on the Tennessee River floodplain. The area is divided into 437 (20 x 20 m) plots with 0.5 m spacing where magnetic gradiometry profiles were collected in a zig-zag pattern, resulting in 350 km of line data. Once anomalies are identified in the magnetics data, potential excavation sites for archeological features are determined and other geophysical techniques are utilized to gain confidence in choosing which anomalies to excavate. Several grids are resurveyed using Ground Penetrating Radar (GPR) and EM-31 with a 0.25 m spacing in a grid pattern. A quantitative method of integrating data into one comprehensive set is developed, enhancing interpretation because each geophysical technique utilized within this study produced a unique response to noise and the targets. Spatial visualization software is used to interpolate irregularly spaced XYZ data into a regularly spaced grid and display the geophysical data in 3D representations. Once all data are exported from each individual instrument, grid files are created for quantitative merging of the data and to create grid-based maps including contour, image, shaded relief, and surface maps. Statistics were calculated from anomaly classification in the data and excavated features present. To study this methodology in a more controlled setting, a second site is used. This site is analogous to the first in that it is along the Tennessee River floodplain on the same bedrock units. However, this analog site contains known targets (previously buried and accurately located) including size, shape, and orientation. Four

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

    SciTech Connect

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

    1994-05-15

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

  14. Initial Results of Image-Guided Percutaneous Ablation as Second-Line Treatment for Symptomatic Vascular Anomalies

    SciTech Connect

    Thompson, Scott M.; Callstrom, Matthew R. McKusick, Michael A. Woodrum, David A.

    2015-10-15

    PurposeThe purpose of this study was to determine the feasibility, safety, and early effectiveness of percutaneous image-guided ablation as second-line treatment for symptomatic soft-tissue vascular anomalies (VA).Materials and MethodsAn IRB-approved retrospective review was undertaken of all patients who underwent percutaneous image-guided ablation as second-line therapy for treatment of symptomatic soft-tissue VA during the period from 1/1/2008 to 5/20/2014. US/CT- or MRI-guided and monitored cryoablation or MRI-guided and monitored laser ablation was performed. Clinical follow-up began at one-month post-ablation.ResultsEight patients with nine torso or lower extremity VA were treated with US/CT (N = 4) or MRI-guided (N = 2) cryoablation or MRI-guided laser ablation (N = 5) for moderate to severe pain (N = 7) or diffuse bleeding secondary to hemangioma–thrombocytopenia syndrome (N = 1). The median maximal diameter was 9.0 cm (6.5–11.1 cm) and 2.5 cm (2.3–5.3 cm) for VA undergoing cryoablation and laser ablation, respectively. Seven VA were ablated in one session, one VA initially treated with MRI-guided cryoablation for severe pain was re-treated with MRI-guided laser ablation due to persistent moderate pain, and one VA was treated in a planned two-stage session due to large VA size. At an average follow-up of 19.8 months (range 2–62 months), 7 of 7 patients with painful VA reported symptomatic pain relief. There was no recurrence of bleeding at five-year post-ablation in the patient with hemangioma–thrombocytopenia syndrome. There were two minor complications and no major complications.ConclusionImage-guided percutaneous ablation is a feasible, safe, and effective second-line treatment option for symptomatic VA.

  15. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.

    PubMed

    Hill, S; Rademaker, M

    2009-12-01

    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.

  16. Congenital keratoglobus with multiple cardiac anomalies: a case presentation and literature review.

    PubMed

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

    Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients.

  17. Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (From The International PHACE Syndrome Registry)

    PubMed Central

    Bayer, Michelle L.; Frommelt, Peter C.; Blei, Francine; Breur, Johannes M.P.J.; Cordisco, Maria R.; Frieden, Ilona J.; Goddard, Deborah S.; Holland, Kristen E.; Krol, Alfons L.; Maheshwari, Mohit; Metry, Denise W.; Morel, Kimberly D.; North, Paula E.; Pope, Elena; Shieh, Joseph T.; Southern, James F.; Wargon, Orli; Siegel, Dawn H.; Drolet, Beth A.

    2014-01-01

    PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral/midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiology, and pathology data for cardiovascular anomalies in PHACE patients to date. 62/150 (41%) subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31/150 (21%) of subjects). Coarctation was the second most common anomaly, identified in 28/150 (19%), and can be missed clinically in PHACE patients because of the frequent association of arch obstruction with aberrant subclavian origin. 23/62 (37%) subjects with cardiovascular anomalies required procedural intervention. A higher percentage of hemangiomas were located on the left side of the head/neck in patients with coarctation (46% vs. 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE. PMID:24079520

  18. Use of 3D printer technology to facilitate surgical correction of a complex vascular anomaly with esophageal entrapment in a dog.

    PubMed

    Dundie, A; Hayes, G; Scrivani, P; Campoy, L; Fletcher, D; Ash, K; Oxford, E; Moïse, N S

    2017-04-01

    A 10 week old female intact Staffordshire terrier was presented with a total of five congenital cardio-thoracic vascular anomalies consisting of a patent ductus arteriosus (PDA) with an aneurysmic dilation, pulmonic stenosis, persistent right aortic arch, aberrant left subclavian artery and persistent left cranial vena cava. These abnormalities were identified with a combination of echocardiogram and computed tomography angiography (CTA). The abnormalities were associated with esophageal entrapment, regurgitation, and volume overload of the left heart with left atrial and ventricular enlargement. A 2 cm diameter aneurysmic dilation at the junction of the PDA, right aortic arch and aberrant left subclavian artery presented an unusual surgical challenge and precluded simple circumferential ligation and transection of the structure. A full scale three dimensional model of the heart and vasculature was constructed from the CTA and plasma sterilized. The model was used preoperatively to facilitate surgical planning and enhance intraoperative communication and coordination between the surgical and anesthesia teams. Intraoperatively the model facilitated spatial orientation, atraumatic vascular dissection, instrument sizing and positioning. A thoracoabdominal stapler was used to close the PDA aneurysm prior to transection. At the four-month postoperative follow-up the patient was doing well. This is the first reported application of new imaging and modeling technology to enhance surgical planning when approaching correction of complex cardiovascular anomalies in a dog.

  19. An establishment of vascular access through superior vena cava for a patient with multiple central venous stenosis or occlusion.

    PubMed

    Diao, Yong Shu; Feng, Yan Huan; Liu, Chun Cheng; Cui, Tian Lei; Fu, Ping

    2016-05-01

    The patency of vascular access is of vital importance to dialysis patients. Access dysfunction is largely caused by vessel stenosis and thrombosis. Nephrologists usually find themselves helpless when all treatments fail and the vascular access seems to have exhausted. Here we report a successful establishment of vascular access through superior vena cava for a critical patient with multiple central venous stenosis or occlusion. To our knowledge, it is the first case ever reported on the successful establishment of vascular access through superior vena cava under such a complicated condition of vascular exhaustion.

  20. Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

    PubMed Central

    Konrad, H; Merriam, J C; Jones, I S

    1995-01-01

    PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 PMID:8719680

  1. Isolated Vaginal Agenesis Associated with Multiple Gastrointestinal Anomalies: A Case Report

    PubMed Central

    Angotti, R; Molinaro, F; Bulotta, AL; Ferrara, F; Sica, M; Bindi, E; Messina, M

    2016-01-01

    More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature. PMID:27433450

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

    PubMed Central

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant. PMID:27916860

  3. Decreased Endothelin-1 Plasma Levels in Multiple Sclerosis Patients: A Possible Factor of Vascular Dysregulation?

    PubMed Central

    Jankowska-Lech, Irmina; Terelak-Borys, Barbara; Grabska-Liberek, Iwona; Palasik, Witold; Bik, Wojciech; Wolińska-Witort, Ewa

    2015-01-01

    Background Multiple sclerosis (MS) is a demyelinating autoimmune disease of the central nervous system with possible involvement of vascular dysregulation secondary to endothelial dysfunction caused by destruction of the vessel wall. Vascular dysregulation leads to excessive vasoconstriction or insufficient vasodilatation, resulting in vasospasm mediated by endothelin-1 (ET-1), the most potent and long-lasting mediator. Vascular dysregulation can play an important role in the pathogenesis of some eye disorders and it has been hypothesized that it is a vascular risk factor for glaucomatous optic neuropathy. The aim of this study was to estimate endothelin-1 (ET-1) plasma levels in patients with MS. Material/Methods The MS group consisted of 39 patients (9 males, 30 females), mean age: 38.8±10.02 years, range: 22–62. The control group consisted of 27 healthy volunteers (3 males and 24 females), mean age: 37.4±10.88 years, range: 20–62; clinically, in a non-active stage of the disease. ET-1 plasma levels were measured using the Endothelin-1 ELISA Kit (Immuno-Biological Laboratories Co., Japan). Statistical analysis was performed with the nonparametric Mann-Whitney U test for independent groups. Results Endothelin-1 (ET-1) plasma levels were significantly lower in MS patients compared to healthy controls: mean value 0.55±0.44 pg/ml (146.05±118.27 fmol/ml) vs. 0.95±0.48 pg/ml (252.83±127.16 fmol/ml); P=0.012. Conclusions Significantly decreased ET-1 plasma levels in the MS patients could reflect the non-active disease at the time of ET-1 measurements or the effects of immunomodulatory treatment, but it cannot be excluded that decreased ET-1 plasma levels in these patients might result from vascular dysregulation. PMID:25864450

  4. VEGFA: Just one of multiple mechanisms for Sex-Specific Vascular Development within the testis?

    PubMed Central

    Sargent, Kevin M.; McFee, Renee M.; Spuri Gomes, Renata; Cupp, Andrea S.

    2015-01-01

    Testis development from an indifferent gonad is a critical step in embryogenesis. A hallmark of testis differentiation is sex-specific vascularization which occurs as endothelial cells migrate from the adjacent mesonephros into the testis to surround Sertoli-germ cell aggregates and induce seminiferous cord formation. Many in vitro experiments have demonstrated that Vascular Endothelial Growth Factor A (VEGFA) is a critical regulator of this process. Both inhibitors to VEGFA signal transduction and excess VEGFA isoforms in testis organ cultures impaired vascular development and seminiferous cord formation. However, in vivo models using mice which selectively eliminated all VEGFA isoforms: in Sertoli and germ cells (pDmrt1-Cre;Vegfa−/−); Sertoli and Leydig cells (Amhr2-Cre;Vegfa−/−) or Sertoli cells (Amh-Cre;Vegfa−/− and Sry-Cre;Vegfa−/−) displayed testes with observably normal cords and vasculature at postnatal day 0 and onwards. Embryonic testis development may be delayed in these mice; however, the postnatal data indicate that VEGFA isoforms secreted from Sertoli, Leydig or germ cells are not required for testis morphogenesis within the mouse. A Vegfa signal transduction array was employed on postnatal testes from Sry-Cre;Vegfa−/− versus controls. Ptgs1 (Cox1) was the only upregulated gene (5-fold). COX1 stimulates angiogenesis and upregulates, VEGFA, Prostaglandin E2 (PGE2) and PGD2. Thus, other gene pathways may compensate for VEGFA loss, similar to multiple independent mechanisms to maintain SOX9 expression. Multiple independent mechanism that induce vascular development in the testis may contribute to and safeguard the sex-specific vasculature development responsible for inducing seminiferous cord formation, thus, ensuring appropriate testis morphogenesis in the male. PMID:26562337

  5. Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

    PubMed

    Lee, Seung Jae; Han, Dong Kyun; Cho, Hwa Jin; Cho, Young Kuk; Ma, Jae Sook

    2012-08-01

    The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.

  6. Mosaic tetrasomy 15q25{yields}qter in a newborn infant with multiple anomalies

    SciTech Connect

    Van den Enden, A.; Roy, N.V.; Speleman, F.

    1996-06-14

    We describe a premature boy with metopic craniosynostosis, facial anomalies, atrial-septal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25{r_arrow}qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q. 17 refs., 4 figs., 1 tab.

  7. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

    PubMed

    Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

    2015-04-01

    In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition.

  8. Polydopamine-mediated immobilization of multiple bioactive molecules for the development of functional vascular graft materials.

    PubMed

    Lee, Yu Bin; Shin, Young Min; Lee, Ji-Hye; Jun, Indong; Kang, Jae Kyeong; Park, Jong-Chul; Shin, Heungsoo

    2012-11-01

    In this study, we introduced a simple method for polydopamine-mediated immobilization of dual bioactive factors for the preparation of functionalized vascular graft materials. Polydopamine was deposited on elastic and biodegradable poly(lactic acid-co-ɛ-caprolactone) (PLCL) films, and a cell adhesive RGD-containing peptide and basic fibroblast growth factor were subsequently immobilized by simple dipping. We used an enzyme-linked immunosorbent assay and fluorescamine assay to confirm that we had stably immobilized bioactive molecules on the polydopamine-coated PLCL film in a reaction time-dependent manner. When human umbilical vein endothelial cells (HUVEC) were cultured on the prepared substrates, the number of adherent cells and proliferation of HUVEC for up to 14 days were greatest on the film immobilized with dual factors. On the other hand, the film immobilized with RGD peptide exhibited the highest migration speed compared to the other groups. The expression of cluster of differentiation 31 and von Willebrand factor, which indicates maturation of endothelial cells, was highly stimulated in the dual factor-immobilized group, and passively adsorbed factors showed a negligible effect. The immobilization of bioactive molecules inspired by polydopamine was successful, and adhesion, migration, proliferation and differentiation of HUVEC were synergistically accelerated by the presence of multiple signaling factors. Collectively, our results have demonstrated that a simple coating with polydopamine enables the immobilization of multiple bioactive molecules for preparation of polymeric functionalized vascular graft materials.

  9. Chronic Cerebrospinal Vascular Insufficiency Is Not Associated with HLA DRB1*1501 Status in Multiple Sclerosis Patients

    PubMed Central

    Weinstock-Guttman, Bianca; Zivadinov, Robert; Cutter, Gary; Tamaño-Blanco, Miriam; Marr, Karen; Badgett, Darlene; Carl, Ellen; Elfadil, Makki; Kennedy, Cheryl; Benedict, Ralph H. B.; Ramanathan, Murali

    2011-01-01

    Background Chronic cerebrospinal venous insufficiency (CCSVI) was described as a vascular condition characterized by anomalies of veins outside the skull was reported to be associated with multiple sclerosis (MS). The objective was to assess the associations between HLA DRB1*1501 status and the occurrence of CCSVI in MS patients. Methodology/Principal Findings This study included 423 of 499 subjects enrolled in the Combined Transcranial and Extracranial Venous Doppler Evaluation (CTEVD) study. The HLA DRB1*1501 status was obtained in 268 MS patients and 155 controls by genotyping rs3135005, a SNP associated with DRB1*1501 status. All subjects underwent a clinical examination and Doppler scan of the head and neck. The frequency of CCSVI was higher (OR = 4.52, p<0.001) in the MS group 56.0% vs. 21.9% in the controls group and also higher in the progressive MS group 69.8% vs. 49.5% in the non-progressive MS group. The 51.9% frequency of HLA DRB1*1501 positivity (HLA+) in MS was higher compared (OR = 2.33, p<0.001) to 31.6% to controls. The HLA+ frequency in the non-progressive (51.6%) and progressive MS groups (52.3%) was similar. The frequency of HLA+ CCSVI+ was 40.7% in progressive MS, 27.5% in non-progressive MS and 8.4% in controls. The presence of CCSVI was independent of HLA DRB1*1501 status in MS patients. Conclusions/Significance The lack of strong associations of CCSVI with HLA DRB1*1501 suggests that the role of the underlying associations of CCSVI in MS should be interpreted with caution. Further longitudinal studies should determine whether interactions between these factors can contribute to disease progression in MS. PMID:21340025

  10. Robust diagnosis of nuclear plant anomalies through multiple neuro-agent cooperation

    SciTech Connect

    Kitamura, M.; Furukawa, H.; Sakuma, M.; Kozma, R.; Washio, T.

    1994-12-31

    The advantages of implementing diversity in the form of multiple neuro-agents has been demonstrated through numerical experiments. As expected, diagnostic performance was robust despite noise distortion and sensor faults. The results validate our claim that combining multiple and diverse perspectives is indeed beneficial for dependable diagnoses under complicated abnormal conditions with possible sensor faults.

  11. A so-called carcinosarcoma of the gallbladder in a patient with multiple anomalies--a case report.

    PubMed

    Eriguchi, N; Aoyagi, S; Hara, M; Hashino, K; Imamura, M; Sato, S; Imamura, I; Kutami, R; Jimi, A

    1999-01-01

    The patient was a 65-year-old woman with a chief complaint of right upper quadrant pain. Under the diagnosis of gallbladder tumor, preduodenal portal vein and absence of the pancreatic tail, cholecystectomy was performed. Intraoperative findings resulted in a diagnosis of gallbladder tumor, absence of the pancreatic tail, presence of preduodenal portal vein, and malrotation of the intestine. Histological examination of the resected specimens showed a so-called carcinosarcoma. Carcinosarcoma of the gallbladder is a rare tumor of the hepatobiliary region. The present case differs from previously reported cases in its presentation with multiple anomalies including the presence of preduodenal portal vein. Many cases of preduodenal portal vein in an association with duodenal stenosis in children have been reported, but reports of cases of preduodenal portal vein in adult patients are rarely seen in the literature.

  12. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.

    PubMed

    Tos, T; Karaman, A; Aksoy, A; Tukun, A

    2012-01-01

    Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.

  13. Full-waveform associated identification method of ATEM 3D anomalies based on multiple linear regression analysis

    NASA Astrophysics Data System (ADS)

    Ji, Yanju; Huang, Wanyu; Yu, Mingmei; Guan, Shanshan; Wang, Yuan; Zhu, Yu

    2017-01-01

    This article studies full-waveform associated identification method of airborne time-domain electromagnetic method (ATEM) 3-d anomalies based on multiple linear regression analysis method. By using convolution algorithm, full-waveform theoretical responses are computed to derive sample library including switch-off-time period responses and off-time period responses. Extract full-waveform attributes from theoretical responses to derive linear regression equations which are used to identify the geological parameters. In order to improve the precision ulteriorly, we optimize the identification method by separating the sample library into different groups and identify the parameter respectively. Performance of full-waveform associated identification method with field data of wire-loop test experiments with ATEM system in Daedao of Changchun proves that the full-waveform associated identification method is feasible practically.

  14. Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

    PubMed

    Philip, N; Andrac, L; Moncla, A; Sigaudy, S; Zanon, N; Lena, G; Choux, M

    1995-10-01

    We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.

  15. Could multiple voids explain the cosmic microwave background Cold Spot anomaly?

    NASA Astrophysics Data System (ADS)

    Naidoo, Krishna; Benoit-Lévy, Aurélien; Lahav, Ofer

    2016-06-01

    Understanding the observed Cold Spot (CS, temperature of ˜ - 150 μK at its centre) on the cosmic microwave background is an outstanding problem. Explanations vary from assuming it is just a ≳3σ primordial Gaussian fluctuation to the imprint of a supervoid via the Integrated Sachs-Wolfe and Rees-Sciama (ISW+RS) effects. Since single spherical supervoids cannot account for the full profile, the ISW+RS of multiple line-of-sight voids is studied here to mimic the structure of the cosmic web. Two structure configurations are considered. The first, through simulations of 20 voids, produces a central mean temperature of ˜ - 50 μK. In this model the central CS temperature lies at ˜2σ but fails to explain the CS hot ring. An alternative multivoid model (using more pronounced compensated voids) produces much smaller temperature profiles, but contains a prominent hot ring. Arrangements containing closely placed voids at low redshift are found to be particularly well suited to produce CS-like profiles. We then measure the significance of the CS if CS-like profiles (which are fitted to the ISW+RS of multivoid scenarios) are removed. The CS tension with the Λ cold dark matter model can be reduced dramatically for an array of temperature profiles smaller than the CS itself.

  16. Could multiple voids explain the cosmic microwave background Cold Spot anomaly?

    SciTech Connect

    Naidoo, Krishna; Benoit-Levy, Aurelien; Lahav, Ofer

    2016-03-20

    Understanding the observed Cold Spot (CS) (temperature of ~ -150 mu K at its centre) on the Cosmic Microwave Background (CMB) is an outstanding problem. Explanations vary from assuming it is just a ≳ 3σ primordial Gaussian fluctuation to the imprint of a supervoid via the Integrated Sachs-Wolfe and Rees-Sciama (ISW+RS) effects. Since single spherical supervoids cannot account for the full profile, the ISW+RS of multiple line-of-sight voids is studied here to mimic the structure of the cosmic web. Two structure configurations are considered. The first, through simulations of 20 voids, produces a central mean temperature of ~-50 mu K. In this model the central CS temperature lies at ~ 2σ but fails to explain the CS hot ring. An alternative multi-void model (using more pronounced compensated voids) produces much smaller temperature profiles, but contains a prominent hot ring. Arrangements containing closely placed voids at low redshift are found to be particularly well suited to produce CS-like profiles. We then measure the significance of the CS if CS-like profiles (which are fitted to the ISW+RS of multi-void scenarios) are removed. Furthermore, the CS tension with the LCDM model can be reduced dramatically for an array of temperature profiles smaller than the CS itself.

  17. Could multiple voids explain the cosmic microwave background Cold Spot anomaly?

    DOE PAGES

    Naidoo, Krishna; Benoit-Levy, Aurelien; Lahav, Ofer

    2016-03-20

    Understanding the observed Cold Spot (CS) (temperature of ~ -150 mu K at its centre) on the Cosmic Microwave Background (CMB) is an outstanding problem. Explanations vary from assuming it is just a ≳ 3σ primordial Gaussian fluctuation to the imprint of a supervoid via the Integrated Sachs-Wolfe and Rees-Sciama (ISW+RS) effects. Since single spherical supervoids cannot account for the full profile, the ISW+RS of multiple line-of-sight voids is studied here to mimic the structure of the cosmic web. Two structure configurations are considered. The first, through simulations of 20 voids, produces a central mean temperature of ~-50 mu K.more » In this model the central CS temperature lies at ~ 2σ but fails to explain the CS hot ring. An alternative multi-void model (using more pronounced compensated voids) produces much smaller temperature profiles, but contains a prominent hot ring. Arrangements containing closely placed voids at low redshift are found to be particularly well suited to produce CS-like profiles. We then measure the significance of the CS if CS-like profiles (which are fitted to the ISW+RS of multi-void scenarios) are removed. Furthermore, the CS tension with the LCDM model can be reduced dramatically for an array of temperature profiles smaller than the CS itself.« less

  18. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

    SciTech Connect

    Leichtman, L.G.; Zackowski, J.L.; Storto, P.D.; Newlin, A.

    1996-06-14

    Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

  19. AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore

    PubMed Central

    Law, Hai-Yang; Brett, Maggie; Tan, Ene-Choo; Yong, Min-Hwee; Lai, Angeline

    2015-01-01

    Chromosome microarray analysis (CMA) is a sensitive method to identify submicroscopic changes too small to be detected by conventional karyotyping. Due to its high-sensitivity in identifying regions with structural variation and hence the genes involved, it is recommended to be the first-tier genetic test for children with intellectual disabilities, development delay or multiple congenital anomalies, and is routinely available in USA and many countries in Europe. Our lab has started offering this as a clinical test based on the research experience on screening >400 children with developmental delay and multiple congenital anomalies since February 2014. To date, 271 patients have been screened using the Agilent 4×180K CGH + SNP array. Copy number variants (CNVs) ranging in size from 10 kb to 154 Mb were found in 109 patients (40%). Pathogenic and likely pathogenic CNVs were found in 55 (20%). These included 45 with deletions, 8 with duplications and 2 patients with both deletion and duplication. Recurrent microdeletion and microduplication syndromes including the Angelman/Prader-Willi syndrome [5], 1p36 microdeletion [3], Williams syndrome [2], 22q11.2 distal deletion syndrome [2], 16p13.3 microdeletion syndrome [2], Cat Eye syndrome, Cri du Chat syndrome, Miller Decker syndrome, 3q29 microdeletion, 15q24 microdeletion, and 1q43q44 syndrome were among the variants detected in our patients. CNVs of uncertain clinical significance were detected in 54 (20%) individuals: 32 were duplications, 18 were deletions and one with both deletion and duplication. However, due to the high cost of the test, parental testing was not performed and hence, significance of these variants could not be established conclusively. In conclusion, CMA is a powerful tool in identifying pathogenic chromosomal copy number alternations. However, due to the high cost of the test, parental testing for the cases where variants of uncertain significant are found is often not possible. CMA is useful

  20. Multiplicity of morphologies in poly (l-lactide) bioresorbable vascular scaffolds

    PubMed Central

    Ailianou, Artemis; Ramachandran, Karthik; Kossuth, Mary Beth; Oberhauser, James Paul; Kornfield, Julia A.

    2016-01-01

    Poly(l-lactide) (PLLA) is the structural material of the first clinically approved bioresorbable vascular scaffold (BVS), a promising alternative to permanent metal stents for treatment of coronary heart disease. BVSs are transient implants that support the occluded artery for 6 mo and are completely resorbed in 2 y. Clinical trials of BVSs report restoration of arterial vasomotion and elimination of serious complications such as late stent thrombosis. It is remarkable that a scaffold made from PLLA, known as a brittle polymer, does not fracture when crimped onto a balloon catheter or during deployment in the artery. We used X-ray microdiffraction to discover how PLLA acquired ductile character and found that the crimping process creates localized regions of extreme anisotropy; PLLA chains in the scaffold change orientation from the hoop direction to the radial direction on micrometer-scale distances. This multiplicity of morphologies in the crimped scaffold works in tandem to enable a low-stress response during deployment, which avoids fracture of the PLLA hoops and leaves them with the strength needed to support the artery. Thus, the transformations of the semicrystalline PLLA microstructure during crimping explain the unexpected strength and ductility of the current BVS and point the way to thinner resorbable scaffolds in the future. PMID:27671659

  1. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

    SciTech Connect

    Levin, M.L.; Shaffer, L.G.; Lewis, R.L.

    1995-01-02

    We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 (del(17) (q23.2q24.3)) who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient`s phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. 9 refs., 2 figs.

  2. Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL

    PubMed Central

    Andersson, Lisa S.; Wilbe, Maria; Viluma, Agnese; Cothran, Gus; Ekesten, Björn; Ewart, Susan; Lindgren, Gabriella

    2013-01-01

    Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome. PMID:24086599

  3. Endovascular repair of multiple infrageniculate aneurysms in a patient with vascular type Ehlers-Danlos syndrome.

    PubMed

    Domenick, Natalie; Cho, Jae S; Abu Hamad, Ghassan; Makaroun, Michel S; Chaer, Rabih A

    2011-09-01

    Patients with vascular type Ehler-Danlos syndrome can develop aneurysms in unusual locations. We describe the case of a 33-year-old woman with vascular type Ehlers-Danlos syndrome who developed metachronous tibial artery aneurysms that were sequentially treated with endovascular means.

  4. [Maxillofacial and dental anomalies in multiple-abnormality syndromes. The clinical and therapeutic aspects in Sotos' syndrome].

    PubMed

    Staffolani, N; Belcastro, S; Guerra, M

    1994-11-01

    The authors describe the maxillo-facial and dental anomalies present in a rare polymalformative syndrome: Sotos' syndrome. After having examined the syndrome and reported a case, they propose a therapeutic approach for the treatment of young handicapped cooperating patients.

  5. Imaging Pediatric Vascular Lesions

    PubMed Central

    Nguyen, Tuyet A.; Krakowski, Andrew C.; Naheedy, John H.; Kruk, Peter G.

    2015-01-01

    Vascular anomalies are commonly encountered in pediatric and dermatology practices. Most of these lesions are benign and easy to diagnose based on history and clinical exam alone. However, in some cases the diagnosis may not be clear. This may be of particular concern given that vascular anomalies may occasionally be associated with an underlying syndrome, congenital disease, or serious, life-threatening condition. Defining the type of vascular lesion early and correctly is particularly important to determine the optimal approach to management and treatment of each patient. The care of pediatric patients often requires collaboration from a multitude of specialties including pediatrics, dermatology, plastic surgery, radiology, ophthalmology, and neurology. Although early characterization of vascular lesions is important, consensus guidelines regarding the evaluation and imaging of vascular anomalies does not exist to date. Here, the authors provide an overview of pediatric vascular lesions, current classification systems for characterizing these lesions, the various imaging modalities available, and recommendations for appropriate imaging evaluation. PMID:26705446

  6. Multiple biomarkers and risk of clinical and subclinical vascular brain injury: the framingham offspring study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Several biomarkers have been individually associated with vascular brain injury, but no prior study has explored the simultaneous association of a biologically plausible panel of biomarkers with the incidence of stroke/transient ischemic attack and the prevalence of subclinical brain injury. In 3127...

  7. A systematic review of the incidence and prevalence of cardiac, cerebrovascular, and peripheral vascular disease in multiple sclerosis

    PubMed Central

    Reider, Nadia; Cohen, Jeffrey; Stuve, Olaf; Trojano, Maria; Cutter, Gary; Reingold, Stephen; Sorensen, Per Soelberg

    2015-01-01

    Background: Findings regarding the prevalence of vascular comorbidities in multiple sclerosis (MS) are conflicting. Objective: The objective of this review is to estimate the incidence and prevalence of vascular comorbidities and predisposing comorbidities in persons with MS and to assess the quality of the included studies. Methods: The PubMed, EMBASE, SCOPUS and Web of Knowledge databases, conference proceedings, and reference lists of retrieved articles were searched. One reviewer abstracted data using a standardized data collection form, while the second reviewer verified the abstraction. Included studies were assessed qualitatively. Quantitatively, we assessed studies using the I2 statistic, and conducted meta-analyses for population-based studies only. Results: The prevalence of hypertension and hyperlipidemia exceeded 10% in the MS population and increased with age. While the prevalence of ischemic heart disease, congestive heart failure, and stroke were less than 5% overall, the prevalence of these conditions exceeded expectations when compared to the general population. Cardiac valvular disease, however, affected the MS population less often than expected. Problems with study quality were common. Conclusion: Despite the relatively high prevalence of some vascular comorbidities in the MS population, important gaps exist in our understanding of their epidemiology. Most of our knowledge is based on studies conducted in a small number of regions. PMID:25533300

  8. RNAi targeting multiple cell adhesion molecules reduces immune cell recruitment and vascular inflammation after myocardial infarction

    PubMed Central

    Hulsmans, Maarten; Courties, Gabriel; Sun, Yuan; Heidt, Timo; Vinegoni, Claudio; Borodovsky, Anna; Fitzgerald, Kevin; Wojtkiewicz, Gregory R.; Iwamoto, Yoshiko; Tricot, Benoit; Khan, Omar F.; Kauffman, Kevin J.; Xing, Yiping; Shaw, Taylor E.; Libby, Peter; Langer, Robert; Weissleder, Ralph; Swirski, Filip K.

    2016-01-01

    Myocardial infarction (MI) leads to a systemic surge of vascular inflammation in mice and humans, resulting in secondary ischemic complications and high mortality. We show that, in ApoE−/− mice with coronary ligation, increased sympathetic tone up-regulates not only hematopoietic leukocyte production but also plaque endothelial expression of adhesion molecules. To counteract the resulting arterial leukocyte recruitment, we developed nanoparticle-based RNA interference (RNAi) that effectively silences five key adhesion molecules. Simultaneously encapsulating small interfering RNA (siRNA)–targeting intercellular cell adhesion molecules 1 and 2 (Icam1 and Icam2), vascular cell adhesion molecule 1 (Vcam1), and E- and P-selectins (Sele and Selp) into polymeric endothelial-avid nanoparticles reduced post-MI neutrophil and monocyte recruitment into atherosclerotic lesions and decreased matrix-degrading plaque protease activity. Five-gene combination RNAi also curtailed leukocyte recruitment to ischemic myocardium. Therefore, targeted multigene silencing may prevent complications after acute MI. PMID:27280687

  9. 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. PMID:27625457

  10. Multifocal vascular lesions.

    PubMed

    Levin, Laura E; Lauren, Christine T

    2016-09-01

    Multifocal vascular lesions are important to recognize and appropriately diagnose. Generally first noticed on the skin, multifocal vascular lesions may have systemic involvement. Distinguishing among the different types of multifocal vascular lesions is often based on clinical features; however, radiological imaging and/or biopsy are frequently needed to identify distinct features and guide treatment. Knowledge of the systemic associations that can occur with different vascular anomalies may reduce life-threatening complications, such as coagulopathy, bleeding, cardiac compromise, and neurologic sequelae. This review provides a synopsis of the epidemiology, pathogenesis, presentation, workup, and treatment of several well-recognized multifocal vascular tumors and malformations.

  11. Neuronal Nitric Oxide Synthase is Involved in Vascular Hyporeactivity and Multiple Organ Dysfunction Associated with Hemorrhagic Shock.

    PubMed

    Sordi, Regina; Chiazza, Fausto; Collino, Massimo; Assreuy, Jamil; Thiemermann, Christoph

    2016-05-01

    Severe hemorrhage can lead to global ischemia and hemorrhagic shock (HS), resulting in multiple organ failure (MOF) and death. Restoration of blood flow and re-oxygenation is associated with an exacerbation of tissue injury and inflammatory response. The neuronal nitric oxide synthase (nNOS) has been implicated in vascular collapse and systemic inflammation of septic shock; however, the role of nNOS in HS is poorly understood. The aim of this study was to evaluate the role of nNOS in the MOF associated with HS.Rats were subjected to HS under anesthesia. Mean arterial pressure was reduced to 30  mmHg for 90  min, followed by resuscitation with shed blood. Rats were randomly treated with two chemically distinct nNOS inhibitors [ARL 17477 (1 mg/kg) and 7-nitroindazol (5 mg/kg)] or vehicle upon resuscitation. Four hours later, parameters of organ injury and dysfunction were assessed.HS was associated with MOF development. Inhibition of nNOS activity at resuscitation protected rats against the MOF and vascular dysfunction. In addition, treatment of HS rats with nNOS inhibitors attenuated neutrophil infiltration into target organs and decreased the activation of NF-κB, iNOS expression, NO production, and nitrosylation of proteins. Furthermore, nNOS inhibition also reduced the levels of pro-inflammatory cytokines TNF-α and IL-6 in HS rats.In conclusion, two distinct inhibitors of nNOS activity reduced the MOF, vascular dysfunction, and the systemic inflammation associated with HS. Thus, nNOS inhibitors may be useful as an adjunct therapy before fluids and blood administration in HS patients to avoid the MOF associated with reperfusion injury during resuscitation.

  12. 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)

  13. [Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)].

    PubMed

    Meinecke, P

    1982-03-01

    Waardenburg syndrome Type I is described on the basis of an observation of a family. The characteristic signs including lateral displacement of medial canthi ("telecanthus"), wide bridge of the nose, white forelock and severe cochlear deafness are found in one female patient only; however, her eyes are not of different colour. Five further bearers of characteristic signs in four generations are not so severely affected and show the facial anomalies only. To differentiate this syndrome against Waardenburg syndrome Type II which is complicated by deafness twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful. Waardenburg syndromes are hereditary according to the autosomal dominant principle with high penetration; intrafamiliarly, too, expressivity can vary greatly. To date treatment has been directed at the signs and symptoms; prognosis is usually favourable. Prevention appears possible through genetic family counseling.

  14. Hemangiomas and Vascular Malformations: Current Theory and Management

    PubMed Central

    Richter, Gresham T.; Friedman, Adva B.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

  15. 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.

  16. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    PubMed Central

    Shaheen, Ranad; Anazi, Shams; Ben-Omran, Tawfeg; Seidahmed, Mohammed Zain; Caddle, L. Brianna; Palmer, Kristina; Ali, Rehab; Alshidi, Tarfa; Hagos, Samya; Goodwin, Leslie; Hashem, Mais; Wakil, Salma M.; Abouelhoda, Mohamed; Colak, Dilek; Murray, Stephen A.; Alkuraya, Fowzan S.

    2016-01-01

    Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal level is largely limited to model organisms. In this study, we report two consanguineous families in which a similar pattern of congenital anomalies was found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essential component of the SURF complex that generates phospho-UPF1, the single most important step in NMD. By knocking out Smg9 in mice via CRISPR/Cas9, we were able to recapitulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans. Surprisingly, human cells devoid of SMG9 do not appear to have reduction of PTC-containing transcripts but do display global transcriptional dysregulation. We conclude that SMG9 is required for normal human and murine development, most likely through a transcriptional regulatory role, the precise nature of which remains to be determined. PMID:27018474

  17. Spatiotemporal characteristics of the geomagnetic diurnal variation anomalies prior to the 2011 Tohoku earthquake (Mw 9.0) and the possible coupling of multiple pre-earthquake phenomena

    NASA Astrophysics Data System (ADS)

    Han, Peng; Hattori, Katsumi; Huang, Qinghua; Hirooka, Shinji; Yoshino, Chie

    2016-11-01

    Xu et al. (2013) and Han et al. (2015) have reported unusual behaviors of geomagnetic diurnal variation (GDV) in the vertical component prior to the 2011 off the Pacific coast of Tohoku earthquake (Mw 9.0). To make a better understanding of this phenomenon, temporal-spatial analyses of GDV have been applied in this study. Geomagnetic data of long-term observations at 17 stations in Japan have been analyzed using the same method in Han et al. (2015). Ratios of diurnal variation range between the reference station KAK and the target stations have been computed. After removing seasonal variations, the 15-day backward running mean values of the ratios in the vertical component shows a clear anomaly exceeding the statistical threshold about 2 months before the mega event at both ESA and MIZ stations in the Tohoku Region. Locations of anomalies in spatial distribution show a good correlation with the epicenter of the Mw 9.0 earthquake. These spatiotemporal results are consistent with those obtained from other independent observations such as groundwater level and GPS displacements. The coupling of multiple pre-earthquake phenomena may help to understand the preparation process of a mega earthquake in the subduction zone.

  18. Non-Syndromic Occurrence of Multiple Dental and Skeletal Anomalies: A Rare Case Report and Brief Literature Review

    PubMed Central

    Yadav, Nidhi; Patil, Prashant

    2014-01-01

    Oral physician has always been challenged when it comes to diagnosing rare nonsyndromic cases because of the varied presentation of multiple dental abnormalities caused due to mutations in developmental regulatory genes. This coupled with skeletal abnormalities makes the task more difficult. But as we come across such rare constellation of findings, it makes the field more intriguing. Here, we report an extremely rare case of non syndromic occurrence of dental manifestations like multiple dens invaginatus, generalised microdontia, generalised hypoplasia, hypodontia, pulp stones and widening of pulp chamber along with skeletal findings of bilateral syndactyly of legs and brachydactyly of hands and legs. Although many non syndromic cases have been reported in the literature, the unusual occurrence of findings in the present case is being reported for the first time. PMID:25177656

  19. Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

    PubMed Central

    2014-01-01

    Background Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Methods Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform. Results Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. Conclusion This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries. PMID:25016475

  20. Gene of a new X-linked syndrome with multiple congenital anomalies and severe mental retardation maps in Xp22-pter

    SciTech Connect

    Wittwer, B.; Kircheisen, R.; Leutelt, J.

    1994-09-01

    We report on a family with 3 males presenting with a not yet described new X-chromosomal syndrome of multiple congenital anomalies and severe mental retardation. Two sisters have (with 3 different partners) 3 severely handicapped sons. In each case, oligohydramnios and intrauterine growth retardation were observed. Delivery was in the 34th, 31st, and 38th gestational week, respectively. Two of the patients had microcephaly (head circumference of the third case at birth is unknown). On physical examination, high and broad forehead, frontal bossing, downslanting palpebral fissures, long philtrum, thin upper lip, high arched palate, and deeply set anteverted ears were seen. One of the boys has microphthalmos and sclerocornea, while his cousin shows atrophy of the optic nerve. All three patients show a severe statomotor and mental retardation, they are most likely deaf and blind, have pathologic EEG, and seizures. Important additional findings are hydronephrosis, renal duplication, vesicorenal reflux, and agenesis of corpus callosum. The karyotype is normal (46,XY). We performed a segregation analysis in the family using more than 20 DNA polymorphisms distributed over the X chromosome. Linkage without recombination was found to KAL, DXS278, and DXS16 in Xp22. Analysis of multiple informative meioses suggested a location of the disease locus distal to DXS207. Recombinants were identified with all other marker loci from Xp22-Xpter.

  1. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

    PubMed

    Jehee, Fernanda Sarquis; Takamori, Jean Tetsuo; Medeiros, Paula F Vasconcelos; Pordeus, Ana Carolina B; Latini, Flavia Roche M; Bertola, Débora Romeo; Kim, Chong Ae; Passos-Bueno, Maria Rita

    2011-01-01

    Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cut-off for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP

  2. The Relationship between Estrogen and Nitric Oxide in the Prevention of Cardiac and Vascular Anomalies in the Developing Zebrafish (Danio Rerio)

    PubMed Central

    Sykes, Benjamin G.; Van Steyn, Peter M.; Vignali, Jonathan D.; Winalski, John; Lozier, Julie; Bell, Wade E.; Turner, James E.

    2016-01-01

    It has been known that both estrogen (E2) and nitric oxide (NO) are critical for proper cardiovascular system (CVS) function. It has also been demonstrated that E2 acts as an upstream effector in the nitric oxide (NO) pathway. Results from this study indicate that the use of a nitric oxide synthase (NOS) inhibitor (NOSI) which targets specifically neuronal NOS (nNOS or NOS1), proadifen hydrochloride, caused a significant depression of fish heart rates (HR) accompanied by increased arrhythmic behavior. However, none of these phenotypes were evident with either the inhibition of endothelial NOS (eNOS) or inducible NOS (iNOS) isoforms. These cardiac arrhythmias could also be mimicked by inhibition of E2 synthesis with the aromatase inhibitor (AI), 4-OH-A, in a manner similar to that of nNOSI. In both scenarios, by using an NO donor (DETA-NO) in either NO + nNOSI or E2 + AI co-treatments, fish could be significantly rescued from decreased HR and increased arrhythmias. However, the addition of an NOS inhibitor (L-NAME) to the E2 + AI co-treatment fish prevented the rescue of low heart rates and arrhythmias, which strongly implicates the NO pathway as a downstream E2 targeted molecule for the maintenance of healthy cardiomyocyte contractile conditions in the developing zebrafish. Cardiac arrhythmias could be mimicked by the S-nitrosylation pathway inhibitor DTT (1,4-dithiothreitol) but not by ODQ (1H-[1–3]oxadiazolo[4,3-a]quinoxalin-1-one), the inhibitor of the NO receptor molecule sGC in the cGMP-dependent pathway. In both the nNOSI and AI-induced arrhythmic conditions, 100% of the fish expressed the phenotype, but could be rapidly rescued with maximum survival by a washout with dantrolene, a ryanodine Ca2+ channel receptor blocker, compared to the time it took for rescue using a control salt solution. In addition, of the three NOS isoforms, eNOS was the one most implicated in the maintenance of an intact developing fish vascular system. In conclusion, results from

  3. The Relationship between Estrogen and Nitric Oxide in the Prevention of Cardiac and Vascular Anomalies in the Developing Zebrafish (Danio Rerio).

    PubMed

    Sykes, Benjamin G; Van Steyn, Peter M; Vignali, Jonathan D; Winalski, John; Lozier, Julie; Bell, Wade E; Turner, James E

    2016-10-26

    It has been known that both estrogen (E2) and nitric oxide (NO) are critical for proper cardiovascular system (CVS) function. It has also been demonstrated that E2 acts as an upstream effector in the nitric oxide (NO) pathway. Results from this study indicate that the use of a nitric oxide synthase (NOS) inhibitor (NOSI) which targets specifically neuronal NOS (nNOS or NOS1), proadifen hydrochloride, caused a significant depression of fish heart rates (HR) accompanied by increased arrhythmic behavior. However, none of these phenotypes were evident with either the inhibition of endothelial NOS (eNOS) or inducible NOS (iNOS) isoforms. These cardiac arrhythmias could also be mimicked by inhibition of E2 synthesis with the aromatase inhibitor (AI), 4-OH-A, in a manner similar to that of nNOSI. In both scenarios, by using an NO donor (DETA-NO) in either NO + nNOSI or E2 + AI co-treatments, fish could be significantly rescued from decreased HR and increased arrhythmias. However, the addition of an NOS inhibitor (L-NAME) to the E2 + AI co-treatment fish prevented the rescue of low heart rates and arrhythmias, which strongly implicates the NO pathway as a downstream E2 targeted molecule for the maintenance of healthy cardiomyocyte contractile conditions in the developing zebrafish. Cardiac arrhythmias could be mimicked by the S-nitrosylation pathway inhibitor DTT (1,4-dithiothreitol) but not by ODQ (1H-[1-3]oxadiazolo[4,3-a]quinoxalin-1-one), the inhibitor of the NO receptor molecule sGC in the cGMP-dependent pathway. In both the nNOSI and AI-induced arrhythmic conditions, 100% of the fish expressed the phenotype, but could be rapidly rescued with maximum survival by a washout with dantrolene, a ryanodine Ca(2+) channel receptor blocker, compared to the time it took for rescue using a control salt solution. In addition, of the three NOS isoforms, eNOS was the one most implicated in the maintenance of an intact developing fish vascular system. In conclusion, results from

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

    PubMed

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

    2016-02-01

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

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

    PubMed Central

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

    2016-01-01

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

  6. [Multiple intracranial arteriovenous malformation].

    PubMed

    Gelabert-González, Miguel; Santin-Amo, José María; Román-Pena, Paula; Vázquez Herrero, Fernando

    2015-01-01

    Multiple cerebral arteriovenous malformations (AVMs) are thought to be exceedingly rare lesions and have usually been reported as single cases. The incidence of multiple cerebral AVMs in major series ranges from 0.3% to 9% and, in the majority of cases, these malformations are associated with other vascular anomalies of the brain or soft tissues. We report a 62-year-old woman that presented with a left temporal haemorrhage. Angiography showed 3 AVMs located in the left temporal lobe, left cerebellar hemisphere and right temporal lobe. The lesions were treated with radiosurgery.

  7. 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)…

  8. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

    PubMed Central

    Ma, Ruiyu; Deng, Linbei; Xia, Yan; Wei, Xianda; Cao, Yingxi; Guo, Ruolan; Zhang, Rui; Guo, Jing; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic CNVs found in unrelated patients with intellectual disability (ID), developmental delay (DD) and multiple congenital anomalies (MCA). The results shown that there was a significant difference on the distribution of the parent-of-origin for different CNVs types (Chi-square test, p = 4.914 × 10−3). An apparently paternal bias existed in deletion CNVs and a maternal bias in duplication CNVs, indicating that the relative contribution of paternal germline variations is greater than that of maternal to the origin of deletions, and vice versa to the origin of duplications. By analyzing the sequences flanking the breakpoints, we also confirmed that non-allelic homologous recombination (NAHR) served as the major mechanism for the formation of recurrent CNVs whereas non-SDs-based mechanisms played a part in generating rare non-recurrent CNVs and might relate to the paternal germline bias in deletion CNVs. PMID:28322228

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

    PubMed

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

    2011-06-01

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

  10. Toxicity of Gamma Knife Radiosurgery in the Treatment of Intracranial Tumors in Patients With Collagen Vascular Diseases or Multiple Sclerosis

    SciTech Connect

    Lowell, Dot; Tatter, Stephen B.; Bourland, J. Daniel; Guzman, Allan F. de; Ekstrand, Kenneth E.; Ellis, Thomas L.; Lovato, James F.; McMullen, Kevin P.; Munley, Michael T.; Shaw, Edward G.; Urbanic, James J.; Chan, Michael D.

    2011-11-15

    Purpose: To assess toxicity in patients with either a collagen vascular disease (CVD) or multiple sclerosis (MS) treated with intracranial radiosurgery. Methods and Materials: Between January 2004 and April 2009, 6 patients with MS and 14 patients with a CVD were treated with Gamma Knife radiosurgery (GKRS) for intracranial tumors. Treated lesions included 15 total brain metastases in 7 patients, 11 benign brain tumors, 1 low grade glioma, and 1 cavernous malformation. Toxicities were graded by the Radiation Therapy Oncology Group Acute/Late Radiation Morbidity Scoring Criteria. 'Rare toxicities' were characterized as those reported in the scientific literature at an incidence of <5%. Results: Median follow-up time was 16 months. Median dose to the tumor margin was 13.0 Gy (range, 12-21 Gy). Median size of tumor was 5.0 cm{sup 3} (range, 0.14-7.8 cm{sup 3}). Of the 14 patients with CVD, none experienced a Grade 3 or 4 toxicity or a toxicity characterized as rare. Of the 6 patients with MS, 3 experienced rare toxicities, and two of these were Grade 3 toxicities. Rare complications included a patient experiencing both communicating hydrocephalus and facial nerve palsy, as well as 2 additional patients with motor cranial nerve palsy. High-grade toxicities included the patient with an acoustic neuroma requiring ventriculoperitoneal shunt placement for obstructive hydrocephalus, and 1 patient with a facial nerve schwannoma who experienced permanent facial nerve palsy. Interval between radiosurgery and high-grade toxicities ranged from 1 week to 4 months. Conclusions: Our series suggests that patients with MS who receive GKRS may be at increased risk of rare and high-grade treatment-related toxicity. Given the time course of toxicity, treatment-related edema or demyelination represent potential mechanisms.

  11. Genetic causes of vascular malformations.

    PubMed

    Brouillard, Pascal; Vikkula, Miikka

    2007-10-15

    Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.

  12. Vascular Cures

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  13. Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds.

    PubMed

    Parker, Heidi G; Kukekova, Anna V; Akey, Dayna T; Goldstein, Orly; Kirkness, Ewen F; Baysac, Kathleen C; Mosher, Dana S; Aguirre, Gustavo D; Acland, Gregory M; Ostrander, Elaine A

    2007-11-01

    The features of modern dog breeds that increase the ease of mapping common diseases, such as reduced heterogeneity and extensive linkage disequilibrium, may also increase the difficulty associated with fine mapping and identifying causative mutations. One way to address this problem is by combining data from multiple breeds segregating the same trait after initial linkage has been determined. The multibreed approach increases the number of potentially informative recombination events and reduces the size of the critical haplotype by taking advantage of shortened linkage disequilibrium distances found across breeds. In order to identify breeds that likely share a trait inherited from the same ancestral source, we have used cluster analysis to divide 132 breeds of dog into five primary breed groups. We then use the multibreed approach to fine-map Collie eye anomaly (cea), a complex disorder of ocular development that was initially mapped to a 3.9-cM region on canine chromosome 37. Combined genotypes from affected individuals from four breeds of a single breed group significantly narrowed the candidate gene region to a 103-kb interval spanning only four genes. Sequence analysis revealed that all affected dogs share a homozygous deletion of 7.8 kb in the NHEJ1 gene. This intronic deletion spans a highly conserved binding domain to which several developmentally important proteins bind. This work both establishes that the primary cea mutation arose as a single disease allele in a common ancestor of herding breeds as well as highlights the value of comparative population analysis for refining regions of linkage.

  14. 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.

  15. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

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

  16. [A successful case of systemic chemotherapy followed by liver resection for advanced hepatocellular carcinoma with highly vascular invasion and multiple pulmonary metastases].

    PubMed

    Mizukami, Tatsuzo; Kamiyama, Toshiya; Nakanishi, Kazuaki; Taniguchi, Masahiko; Yokoo, Hideki; Tahara, Munenori; Kakisaka, Tatsuhiko; Kamachi, Hirofumi; Matsushita, Michiaki; Todo, Satoru

    2011-05-01

    The prognosis for hepatocellular carcinoma with extrahepatic metastasis or vascular invasion is very poor. We treated a case successfully by combining chemotherapy and liver resection for hepatocellular carcinoma with multiple pulmonary metastases and vascular invasion. A 56-year-old man who complained of abdominal pain in his right side was transported to the hospital by ambulance. Because CT scan revealed the rupture of hepatocellular carcinoma, he underwent emergency transcatheter arterial embolization (TAE). A close examination revealed tumor thrombus in the inferior vena cava and posterior segment of the portal vein branch, with multiple pulmonary metastases. We conducted right hepatic lobectomy and removal of the inferior vena cava tumor thrombus. After the operation, pulmonary metastatic lesions gradually grew larger, so the oral administration of S-1 at 120 mg per day was started. At the end of the first course, the CT scan revealed that multiple pulmonary metastases were significantly reduced, and treatment was maintained until the end of 4 courses. A prolongation of survival could be expected by combining systemic chemotherapy and liver resection for advanced hepatocellular carcinoma such as the present case.

  17. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).

    PubMed

    Loscalzo, M L; Galczynski, R L; Hamosh, A; Summar, M; Chinsky, J M; Thomas, G H

    2004-07-30

    A de novo deletion of the long arm of chromosome 2 at 2q31-33 was observed in the fetal amniocyte G-banded karyotype performed because of possible multiple malformations identified by ultrasound at 23 weeks gestation. Two days after the uneventful term delivery of a 2.45 kg male, the neonate experienced cardiopulmonary decompensation and biochemical changes compatible with carbamoyl phosphate synthetase I (CPS I) deficiency (elevated ammonia with a peak of 948 micromol/L, deficiency of citrulline, and no increase in orotic acid). The child died on day 3 of life. Physical anomalies confirmed at autopsy included double superior vena cava, ectopic adrenal tissue, and metatarsus adductus. The autopsy also revealed histologic evidence consistent with CPS deficiency, most notably microvesicular steatosis of the liver and Alzheimer's Type II changes with hypertrophic astrocytes in the basal ganglia. A postnatal lymphocyte karyotype confirmed the chromosome 2q31-33 deletion. Enzyme analysis on postmortem liver tissue confirmed the diagnosis of CPS deficiency. CPS I is reported to be mapped to 2q35 by NCBI (http://www.ncbi.nlm.nih.gov/mapview/) and 2q34 by ENSEMBL (http://www.ensembl.org/). The UCSC Human Genome Browser July 2003 assembly also places the gene at 2q34 (http://genome.UCSC.edu/). Fluorescence in situ hybridization (FISH) analysis with a BAC clone (RP11-349G4) of CPS I demonstrated that one copy of the gene was deleted in this infant. Using additional probes corresponding to the bands in the region of deletion, we identified the deleted region as 2q32-2q34. Our observations support the CPS I map position (ENSEMBL, UCSC) at 2q34. Additionally, potential conditions associated with deletions narrowly defined by standard cytogenetic techniques merit consideration in prenatal counseling. As demonstrated here, deletions may not only result in malformations and mental retardation but also increase the likelihood of revealing mutated genes located in the undeleted

  18. Homocysteinemia control by cysteine in cerebral vascular patients after methionine loading test: evidences in physiological and pathological conditions in cerebro-vascular and multiple sclerosis patients.

    PubMed

    Ulivelli, Monica; Priora, Raffaella; Di Giuseppe, Danila; Coppo, Lucia; Summa, Domenico; Margaritis, Antonios; Frosali, Simona; Bartalini, Sabina; Martini, Giuseppe; Cerase, Alfonso; Di Simplicio, Paolo

    2016-06-01

    The toxicity risk of hyperhomocysteinemia is prevented through thiol drug administration which reduces plasma total homocysteine (tHcy) concentrations by activating thiol exchange reactions. Assuming that cysteine (Cys) is a homocysteinemia regulator, the hypothesis was verified in healthy and pathological individuals after the methionine loading test (MLT). The plasma variations of redox species of Cys, Hcy, cysteinylglycine, glutathione and albumin (reduced, HS-ALB, and at mixed disulfide, XSS-ALB) were compared in patients with cerebral small vessels disease (CSVD) (n = 11), multiple sclerosis (MS) (n = 12) and healthy controls (n = 11) at 2-4-6 h after MLT. In MLT-treated subjects, the activation of thiol exchange reactions provoked significant changes over time in redox species concentrations of Cys, Hcy, and albumin. Significant differences between controls and pathological groups were also observed. In non-methionine-treated subjects, total Cys concentrations, tHcy and thiol-protein mixed disulfides (CSS-ALB, HSS-ALB) of CSVD patients were higher than controls. After MLT, all groups displayed significant cystine (CSSC) increases and CSS-ALB decreases, that in pathological groups were significantly higher than controls. These data would confirm the Cys regulatory role on the homocysteinemia; they also explain that the Cys-Hcy mixed disulfide excretion is an important point of hyperhomocysteinemia control. Moreover, in all groups after MLT, significant increases in albumin concentrations, named total albumin (tALB) and measured as sum of HS-ALB (spectrophometric), and XSS-ALB (assayed at HPLC) were observed. tALB increases, more pronounced in healthy than in the pathological subjects, could indicate alterations of albumin equilibria between plasma and other extracellular spaces, whose toxicological consequences deserve further studies.

  19. 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.

  20. 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.

  1. 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.

  2. Solvation dynamics of tryptophan in water-dimethyl sulfoxide binary mixture: in search of molecular origin of composition dependent multiple anomalies.

    PubMed

    Roy, Susmita; Bagchi, Biman

    2013-07-21

    Experimental and simulation studies have uncovered at least two anomalous concentration regimes in water-dimethyl sulfoxide (DMSO) binary mixture whose precise origin has remained a subject of debate. In order to facilitate time domain experimental investigation of the dynamics of such binary mixtures, we explore strength or extent of influence of these anomalies in dipolar solvation dynamics by carrying out long molecular dynamics simulations over a wide range of DMSO concentration. The solvation time correlation function so calculated indeed displays strong composition dependent anomalies, reflected in pronounced non-exponential kinetics and non-monotonous composition dependence of the average solvation time constant. In particular, we find remarkable slow-down in the solvation dynamics around 10%-20% and 35%-50% mole percentage. We investigate microscopic origin of these two anomalies. The population distribution analyses of different structural morphology elucidate that these two slowing down are reflections of intriguing structural transformations in water-DMSO mixture. The structural transformations themselves can be explained in terms of a change in the relative coordination number of DMSO and water molecules, from 1DMSO:2H2O to 1H2O:1DMSO and 1H2O:2DMSO complex formation. Thus, while the emergence of first slow down (at 15% DMSO mole percentage) is due to the percolation among DMSO molecules supported by the water molecules (whose percolating network remains largely unaffected), the 2nd anomaly (centered on 40%-50%) is due to the formation of the network structure where the unit of 1DMSO:1H2O and 2DMSO:1H2O dominates to give rise to rich dynamical features. Through an analysis of partial solvation dynamics an interesting negative cross-correlation between water and DMSO is observed that makes an important contribution to relaxation at intermediate to longer times.

  3. Anatomic Anomalies Encountered in 467 Open Carpal Tunnel Surgeries.

    PubMed

    Afshar, Ahmadreza; Nasiri, Behnam; Mousavi, Seyed Ahmad; Hesarikia, Hamid; Navaeifar, Nasrin; Taleb, Hassan

    2016-04-01

    Carpal tunnel syndrome is the most common compression neuropathy and carpal tunnel surgery is the most frequently performed hand surgery. Anatomic anomalies may predispose the median nerve to compression. The aim of the current study was to search for anatomic anomalies in open carpal tunnel surgeries through a cross-sectional study. During a cross-sectional study in a one-year period, 436 consecutive patients (307 females and 129 males) with the average age of 50.3 ± 2.4 years underwent 467 classic open carpal tunnel surgeries. Thirty-one patients had bilateral surgeries. A thorough inspection of the incisions was conducted to search for vascular, neural, tendon and muscular anomalies. Forty-two (8.9%) hands (14 males and 28 females) had anomalies. The average age of the patients with discovered anomalies was 48.6 ± 7.6 years. Ten anomalies were seen on the left hands and 32 anomalies were seen on the right hands. Among the 42 anomalies, there were 16 persistent median arteries, 14 anomalies of the median nerve, 7 intratunnel intrusion of the flexor and lumbrical muscle bellies and 5 anomalies of the origin of the thenar muscles. There was no correlation between the discovered anomalies and the age, gender or hand sides. Anatomical anomalies are not uncommon in carpal tunnel surgeries. However, the frequencies of the reported anomalies vary among different studies. Familiarity with these anomalies increases the safety of the operation.

  4. Patients with type 1 diabetes show signs of vascular dysfunction in response to multiple high-fat meals

    PubMed Central

    2014-01-01

    Background A high-fat diet promotes postprandial systemic inflammation and metabolic endotoxemia. We investigated the effects of three consecutive high-fat meals on endotoxemia, inflammation, vascular function, and postprandial lipid metabolism in patients with type 1 diabetes. Methods Non-diabetic controls (n = 34) and patients with type 1 diabetes (n = 37) were given three high-caloric, fat-containing meals during one day. Blood samples were drawn at fasting (8:00) and every two hours thereafter until 18:00. Applanation tonometry was used to assess changes in the augmentation index during the investigation day. Results Three consecutive high-fat meals had only a modest effect on serum LPS-activity levels and inflammatory markers throughout the day in both groups. Of note, patients with type 1 diabetes were unable to decrease the augmentation index in response to the high-fat meals. The most profound effects of the consecutive fat loads were seen in chylomicron and HDL-metabolism. The triglyceride-rich lipoprotein remnant marker, apoB-48, was elevated in patients compared to controls both at fasting (p = 0.014) and postprandially (p = 0.035). The activities of the HDL-associated enzymes PLTP (p < 0.001), and CETP (p = 0.007) were higher and paraoxonase (PON-1) activity, an anti-oxidative enzyme bound to HDL, decreased in patients with type 1 diabetes (p = 0.027). Conclusions In response to high-fat meals, early signs of vascular dysfunction alongside accumulation of chylomicron remnants, higher augmentation index, and decreased PON-1 activity were observed in patients with type 1 diabetes. The high-fat meals had no significant impact on postprandial LPS-activity in non-diabetic subjects or patients with type 1 diabetes suggesting that metabolic endotoxemia may be more central in patients with chronic metabolic disturbances such as obesity, type 2 diabetes, or diabetic kidney disease. PMID:24959195

  5. Chiral anomalies and differential geometry

    SciTech Connect

    Zumino, B.

    1983-10-01

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

  6. Vascular Cognitive Impairment.

    PubMed

    Dichgans, Martin; Leys, Didier

    2017-02-03

    Cerebrovascular disease typically manifests with stroke, cognitive impairment, or both. Vascular cognitive impairment refers to all forms of cognitive disorder associated with cerebrovascular disease, regardless of the specific mechanisms involved. It encompasses the full range of cognitive deficits from mild cognitive impairment to dementia. In principle, any of the multiple causes of clinical stroke can cause vascular cognitive impairment. Recent work further highlights a role of microinfarcts, microhemorrhages, strategic white matter tracts, loss of microstructural tissue integrity, and secondary neurodegeneration. Vascular brain injury results in loss of structural and functional connectivity and, hence, compromise of functional networks within the brain. Vascular cognitive impairment is common both after stroke and in stroke-free individuals presenting to dementia clinics, and vascular pathology frequently coexists with neurodegenerative pathology, resulting in mixed forms of mild cognitive impairment or dementia. Vascular dementia is now recognized as the second most common form of dementia after Alzheimer's disease, and there is increasing awareness that targeting vascular risk may help to prevent dementia, even of the Alzheimer type. Recent advances in neuroimaging, neuropathology, epidemiology, and genetics have led to a deeper understanding of how vascular disease affects cognition. These new findings provide an opportunity for the present reappraisal of vascular cognitive impairment. We further briefly address current therapeutic concepts.

  7. 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.

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

    PubMed

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

    2014-12-01

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

  9. 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

  10. Vascular ring

    MedlinePlus

    ... with aberrant subclavian and left ligamentum ateriosus; Congenital heart defect - vascular ring; Birth defect heart - vascular ring ... accounts for less than 1% of all congenital heart problems. The condition occurs as often in males ...

  11. Ebstein anomaly: a review.

    PubMed

    Galea, Joseph; Ellul, Sarah; Schembri, Aaron; Schembri-Wismayer, Pierre; Calleja-Agius, Jean

    2014-01-01

    Cardiac congenital abnormalities are a leading cause in neonatal mortality occurring in up to 1 in 200 of live births. Ebstein anomaly, also known as Kassamali anomaly, accounts for 1 percent of all congenital cardiac anomalies. This congenital abnormality involves malformation of the tricuspid valve and of the right ventricle. In this review, the causes of the anomaly are outlined and the pathophysiology is discussed, with a focus on the symptoms, management, and treatments available to date.

  12. Spacecraft Environmental Anomalies Handbook

    DTIC Science & Technology

    1989-08-01

    engineering solutions for mitigating the effects of environmental anomalies have been developed. Among the causes o, spacecraft anomalies are surface...have been discovered after years of investig!:tion, and engineering solutions for mitigating the effccts of environmental anomalies have been developed...23 * 6.4.3 Fauth Tolerant Solutions .............................................................................. 23 6.4.4. Methods

  13. South Atlantic Anomaly

    Atmospheric Science Data Center

    2013-04-19

    article title:  The South Atlantic Anomaly     View larger GIF image The South Atlantic Anomaly (SAA) . Even before the cover opened, the Multi-angle Imaging ... Atlantic Anomaly location:  Atlantic Ocean Global Images First Light Images region:  Before the ...

  14. Pictorial review of coronary anomalies in Tetralogy of Fallot.

    PubMed

    Kapur, Sangita; Aeron, Gunjan; Vojta, Christopher N

    2015-01-01

    Tetralogy of Fallot (TOF) classically consists of four characteristic features-right ventricular outflow obstruction, right ventricular hypertrophy, ventricular septal defect and an overriding aorta. In addition there are multiple other associated cardiac anomalies, including coronary artery anomalies. In this review, the role of CT angiography and the spectrum of coronary anomalies will be discussed along with importance of such anomalies in the context of surgery.

  15. A case of multiple abnormalities with eustachian tube obstruction by a protruded internal carotid artery.

    PubMed

    Shinnabe, Akihiro; Hara, Mariko; Matsuzawa, Shingo; Hasegawa, Masayo; Kodama, Kozue; Kanazawa, Hiromi; Yoshida, Naohiro; Iino, Yukiko

    2011-03-01

    We report a case of multiple abnormalities with eustachian tube obstruction by a protruded internal carotid artery. A 10-year-old male presented with multiple abnormalities including anomalous pinna, poor eyesight, facial palsy, moderate conductive deafness, and otitis media with effusion. Temporal bone computed tomography demonstrated obstruction of the right eustachian tube by a protruded internal carotid artery. Insertion of a tympanostomy tube did not improve his hearing, indicating a possible ossicular chain anomaly. Although tympanoplasty is necessary to improve the patients' hearing, the poor drainage function makes this difficult. Knowledge of this vascular anomaly is important when performing myringotomy or tympanoplasty.

  16. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    SciTech Connect

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A.

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  17. 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.

  18. Multiple classes of transcription factors regulate the expression of VASCULAR-RELATED NAC-DOMAIN7, a master switch of xylem vessel differentiation.

    PubMed

    Endo, Hitoshi; Yamaguchi, Masatoshi; Tamura, Taizo; Nakano, Yoshimi; Nishikubo, Nobuyuki; Yoneda, Arata; Kato, Ko; Kubo, Minoru; Kajita, Shinya; Katayama, Yoshihiro; Ohtani, Misato; Demura, Taku

    2015-02-01

    The secondary cell walls of xylem cells, including vessel elements, provide mechanical strength and contribute to the conduction of water and minerals. VASCULAR-RELATED NAC-DOMAIN7 (VND7) is a NAC-domain transcription factor that regulates the expression of genes required for xylem vessel element formation. Transient expression assays using 68 transcription factors that are expressed during xylem vessel differentiation showed that 14 transcription factors, including VND1-VND7, are putative positive regulators of VND7 expression. Electrophoretic mobility shift assays revealed that all seven VND proteins bound to the VND7 promoter region at its SMBE/TERE motif, indicating that VND7 is a direct target of all of the VND transcription factors. Overexpression of VND1-VND5, GATA12 and ANAC075, newly identified transcription factors that function upstream of VND7, resulted in ectopic xylem vessel element formation. These data suggest that VND7 transcription is a regulatory target of multiple classes of transcription factors.

  19. Targeting Vascular Endothelial Growth Factor Receptor 2 and Protein Kinase D1 Related Pathways by a Multiple Kinase Inhibitor in Angiogenesis and Inflammation Related Processes In Vitro

    PubMed Central

    Varga, Attila; Gyulavári, Pál; Greff, Zoltán; Futosi, Krisztina; Németh, Tamás; Simon-Szabó, Laura; Kerekes, Krisztina; Szántai-Kis, Csaba; Brauswetter, Diána; Kokas, Márton; Borbély, Gábor; Erdei, Anna; Mócsai, Attila; Kéri, György; Vántus, Tibor

    2015-01-01

    Emerging evidence suggests that the vascular endothelial growth factor receptor 2 (VEGFR2) and protein kinase D1 (PKD1) signaling axis plays a critical role in normal and pathological angiogenesis and inflammation related processes. Despite all efforts, the currently available therapeutic interventions are limited. Prior studies have also proved that a multiple target inhibitor can be more efficient compared to a single target one. Therefore, development of novel inflammatory pathway-specific inhibitors would be of great value. To test this possibility, we screened our molecular library using recombinant kinase assays and identified the previously described compound VCC251801 with strong inhibitory effect on both VEGFR2 and PKD1. We further analyzed the effect of VCC251801 in the endothelium-derived EA.hy926 cell line and in different inflammatory cell types. In EA.hy926 cells, VCC251801 potently inhibited the intracellular activation and signaling of VEGFR2 and PKD1 which inhibition eventually resulted in diminished cell proliferation. In this model, our compound was also an efficient inhibitor of in vitro angiogenesis by interfering with endothelial cell migration and tube formation processes. Our results from functional assays in inflammatory cellular models such as neutrophils and mast cells suggested an anti-inflammatory effect of VCC251801. The neutrophil study showed that VCC251801 specifically blocked the immobilized immune-complex and the adhesion dependent TNF-α -fibrinogen stimulated neutrophil activation. Furthermore, similar results were found in mast cell degranulation assay where VCC251801 caused significant reduction of mast cell response. In summary, we described a novel function of a multiple kinase inhibitor which strongly inhibits the VEGFR2-PKD1 signaling and might be a novel inhibitor of pathological inflammatory pathways. PMID:25874616

  20. Targeting vascular endothelial growth factor receptor 2 and protein kinase D1 related pathways by a multiple kinase inhibitor in angiogenesis and inflammation related processes in vitro.

    PubMed

    Varga, Attila; Gyulavári, Pál; Greff, Zoltán; Futosi, Krisztina; Németh, Tamás; Simon-Szabó, Laura; Kerekes, Krisztina; Szántai-Kis, Csaba; Brauswetter, Diána; Kokas, Márton; Borbély, Gábor; Erdei, Anna; Mócsai, Attila; Kéri, György; Vántus, Tibor

    2015-01-01

    Emerging evidence suggests that the vascular endothelial growth factor receptor 2 (VEGFR2) and protein kinase D1 (PKD1) signaling axis plays a critical role in normal and pathological angiogenesis and inflammation related processes. Despite all efforts, the currently available therapeutic interventions are limited. Prior studies have also proved that a multiple target inhibitor can be more efficient compared to a single target one. Therefore, development of novel inflammatory pathway-specific inhibitors would be of great value. To test this possibility, we screened our molecular library using recombinant kinase assays and identified the previously described compound VCC251801 with strong inhibitory effect on both VEGFR2 and PKD1. We further analyzed the effect of VCC251801 in the endothelium-derived EA.hy926 cell line and in different inflammatory cell types. In EA.hy926 cells, VCC251801 potently inhibited the intracellular activation and signaling of VEGFR2 and PKD1 which inhibition eventually resulted in diminished cell proliferation. In this model, our compound was also an efficient inhibitor of in vitro angiogenesis by interfering with endothelial cell migration and tube formation processes. Our results from functional assays in inflammatory cellular models such as neutrophils and mast cells suggested an anti-inflammatory effect of VCC251801. The neutrophil study showed that VCC251801 specifically blocked the immobilized immune-complex and the adhesion dependent TNF-α -fibrinogen stimulated neutrophil activation. Furthermore, similar results were found in mast cell degranulation assay where VCC251801 caused significant reduction of mast cell response. In summary, we described a novel function of a multiple kinase inhibitor which strongly inhibits the VEGFR2-PKD1 signaling and might be a novel inhibitor of pathological inflammatory pathways.

  1. 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

  2. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    PubMed Central

    de León Ojeda, Norma Elena; Soriano-Torres, Michel; Cabrera, Mercedes J.; Benítez Ramos, Dunia Bárbara

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3) de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4. PMID:23320208

  3. The expression of osteopontin and vascular endothelial growth factor in correlation with angiogenesis in monoclonal gammopathy of undetermined significance and multiple myeloma.

    PubMed

    Babarović, Emina; Valković, Toni; Budisavljević, Ivana; Balen, Ivan; Štifter, Sanja; Duletić-Načinović, Antica; Lučin, Ksenija; Jonjić, Nives

    2016-06-01

    Several studies have shown a gradual increase in the extent of bone marrow angiogenesis in various stages of proliferative plasma cell disorders, from monoclonal gammopathy of undetermined significance (MGUS) to active multiple myeloma (MM). The main aim of this study was to evaluate tumor angiogenesis parameters in detail and to correlate them with the expression of osteopontin (OPN) and vascular endothelial growth factor (VEGF) in the bone marrow of patients with MGUS and MM. In addition, we wanted to determine their prognostic significance in active MM. Ninety-five patients were enrolled in the study: 14 diagnosed with MGUS, 13 with asymptomatic myeloma (AMM) and 68 with active MM. Computer assisted image analysis was used to determine the angiogenesis parameters, the quantity of microvessels per 1mm(2) (MVD), the area occupied by microvessels per 1mm(2) and the percentage of microvessel area in total section area (TVA). Double immunohistochemical methods CD138+VEGF and CD138+OPN were used to evaluate expression of these proteins in plasma cells, and OPN was also analyzed for its interstitial expression (iOPN). A significant positive correlation was determined between VEGF and iOPN with angiogenic parameters in the MGUS stage of the disease. In advanced stages of the disease, a significant negative correlation was recorded between OPN and iOPN with parameters of angiogenesis. Overall survival was significantly shorter for patients with negative iOPN (p=0.002) and higher angiogenic parameters, MVD (p=0.009), TVA (p=0.008) and area of microvessels per 1mm(2) (p=0.02). Positive VEGF expression in our model predicted a better three-year survival of patients with active MM (OR: 5.25, p=0.03; HR: 0.44, p=0.04). The results of our study suggested a possible key role of VEGF and OPN in the induction of angiogenesis in early-stage disease.

  4. Multiple activation of mitogen-activated protein kinases by purified independent CCN2 modules in vascular endothelial cells and chondrocytes in culture.

    PubMed

    Kubota, S; Kawaki, H; Kondo, S; Yosimichi, G; Minato, M; Nishida, T; Hanagata, H; Miyauchi, A; Takigawa, M

    2006-12-01

    CCN2 consists of 4 distinct modules that are conserved among various CCN family protein members. From the N-terminus, insulin-like growth factor binding protein (IGFBP), von Willebrand factor type C repeat (VWC), thrombospondin type 1 repeat (TSP1) and C-terminal cysteine-knot (CT) modules are all aligned tandem therein. The multiple functionality of CCN2 is thought to be enabled by the differential use of these modules when interacting with other molecules. In this study, we independently prepared all 4 purified module proteins of human CCN2, utilizing a secretory production system with Brevibacillus choshinensis and thus evaluated the cell biological effects of such single modules. In human umbilical vascular endothelial cells (HUVECs), VWC, TSP and CT modules, as well as a full-length CCN2, were capable of efficiently activating the ERK signal transduction cascade, whereas IGFBP was not. In contrast, the IGFBP module was found to prominently activate JNK in human chondrocytic HCS-2/8 cells, while the others showed similar effects at lower levels. In addition, ERK1/2 was modestly, but significantly activated by IGFBP and VWC in those cells. No single module, but a mixture of the 4 modules provoked a significant activation of p38 MAPK in HCS-2/8 cells, which was activated by the full-length CCN2. Therefore, the signals emitted by CCN2 can be highly differential, depending upon the cell types, which are thus enabled by the tetramodular structure. Furthermore, the cell biological effects of each module on these cells were also evaluated to clarify the relationship among the modules, the signaling pathways and biological outcomes. Our present results not only demonstrate that single CCN2 modules were potent activators of the intracellular signaling cascade to yield a biological response per se, while also providing new insight into the module-wise structural and functional relationship of a prototypic CCN family member, CCN2.

  5. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

    PubMed

    Gamba, Bruno Faulin; Richieri-Costa, Antônio; Costa, Silvia; Rosenberg, Carla; Ribeiro-Bicudo, Lucilene Arilho

    2015-12-01

    Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural hearing loss, seizures, heart defects, and distinct facies. In the present case, we performed array-comparative genomic hybridization in a boy with multiple congenital malformations presenting some features overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not reveal a terminal deletion in 1p. Results showed complex chromosome rearrangements involving the 1p36.33-p35.3 region. While the mechanism of origin of these rearrangements is still unclear, chromothripsis-a single catastrophic event leading to shattering chromosomes or chromosome regions and rejoining of the segments-has been described to occur in a fraction of cancers. The presence of at least 12 clustered breaks at 1p and apparent lack of mosaicism in the present case suggests that a single event like chromothripsis occurred. This finding suggests that chromothripsis is responsible for some constitutive complex chromosome rearrangements.

  6. Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

    PubMed

    Jaiswal, Sushil Kumar; Kumar, Ashok; Ali, Akhtar; Rai, Amit Kumar

    2015-03-15

    The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600 kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation.

  7. 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

  8. 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.

  9. Competing Orders and Anomalies.

    PubMed

    Moon, Eun-Gook

    2016-08-08

    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.

  10. Aeromagnetic anomalies and discordant lineations beneath the Niger Delta: Implications for new fracture zones and multiple sea-floor spreading directions in the meso-Atlantic' Gulf of Guinea cul-de-sac

    SciTech Connect

    Babalola, O.O.; Gipson, M. Jr. )

    1991-06-01

    An aeromagnetic contour map compiled over shallow water and onshore portions of the Nigerian continental margin, shows several elongate, long-wavelength anomaly closures with some alternating polarity, separated by steep gradient, NE lineations. The lineations are interpreted as new fracture zones or extensions of previously mapped ones. The NE trend in the western delta region is concordant with the fracture zone trends of the deeper Gulf of Guinea. Aeromagnetic lineations of the SE Niger Delta Basin however, discordantly trend ENE. Their termination against the former, is interpreted as evidence of early sea-floor spreading in a ENE-WSW direction in addition to the well documented NE-SW spreading of the Gulf of Guinea and the rest of the meso-Atlantic sea-floor; The geophysical crustal structure indicate the existence of two Early Cretaceous triple junctions beneath the Niger Delta Basin. The two triple-junctions further support the hypothesis that the African continent was a multi-plate system (in the Niger Delta region) during the early opening of the Atlantic.

  11. Ultrasound -- Vascular

    MedlinePlus

    ... plan for their effective treatment. detect blood clots (deep venous thrombosis (DVT) in the major veins of ... What are the limitations of Vascular Ultrasound? Vessels deep in the body are harder to see than ...

  12. Vascular Dementia

    MedlinePlus

    ... attack) may increase your risk of developing dementia. Atherosclerosis. This condition occurs when deposits of cholesterol and ... in your arteries and narrow your blood vessels. Atherosclerosis can increase your risk of vascular dementia — and ...

  13. [A case of bilateral infraoptic course of ACA associated with multiple cerebral artery aneurysms].

    PubMed

    Ogura, K; Hasegawa, K; Kobayashi, T; Kohno, M; Hondo, H

    1998-06-01

    Infraoptic course of anterior cerebral artery (ACA) is a rare cerebral vascular anomaly frequently associated with intracranial aneurysm. A 58-year-old woman suffered, subarachnoid hemorrhage due to aneurysmal rupture. Carotid angiography revealed multiple aneurysms and bilateral infraoptic course of ACA. Usual A1 segments were not visualized on both sides. These findings were also confirmed by craniotomy. Only 46 cases have been reported including ours. In this paper, we reviewed previously reported cases and the cause of aneurysm formation was discussed.

  14. Anomaly Detection at Multiple Scales (ADAMS)

    DTIC Science & Technology

    2011-11-09

    card numbers that have black market value [15, 26]. However, enticement depends upon the attacker’s intent or preference. We define enticing...Analysis, " Phrack 11 , 61-9, 2003. [7] Friess , N., and Aycock, J., "Black Market Botnets," Department of Com- puter Science, University of Calgary, TR...Introduction to Modern Cryptography, Chapman and Hall CRC Press, 2007. [14] Kravets, D., "From Riches to Prison: Hackers Rig Stock Prices," Wired

  15. The HDAC inhibitors trichostatin A and suberoylanilide hydroxamic acid exhibit multiple modalities of benefit for the vascular pathobiology of sickle transgenic mice

    PubMed Central

    Vercellotti, Gregory M.; Pace, Betty S.; Solovey, Anna N.; Kollander, Rahn; Abanonu, Chine F.; Nguyen, Julia; Vineyard, Julie V.; Belcher, John D.; Abdulla, Fuad; Osifuye, Shadé; Eaton, John W.; Kelm, Robert J.; Slungaard, Arne

    2010-01-01

    The vascular pathobiology of sickle cell anemia involves inflammation, coagulation, vascular stasis, reperfusion injury, iron-based oxidative biochemistry, deficient nitric oxide (NO) bioavailability, and red cell sickling. These disparate pathobiologies intersect and overlap, so it is probable that multimodality therapy will be necessary for this disease. We have, therefore, tested a histone deacetylase (HDAC) inhibitor, trichostatin A (TSA), for efficacy in reducing endothelial activation. We found that pulmonary vascular endothelial VCAM-1 and tissue factor (TF) expression (both are indicators of endothelial activation) are powerfully and significantly inhibited by TSA. This is seen both with pretreatment before the inducing stress of hypoxia/reoxygenation (NY1DD sickle transgenic mouse), and upon longer-term therapy after endothelial activation has already occurred (hBERK1 sickle mouse at ambient air). In addition, TSA prevented vascular stasis in sickle mice, it exhibited activity as an iron chelator, and it induced expression of the antisickling hemoglobin, hemoglobin F. Notably, the TSA analog SAHA (suberoylanilide hydroxaminc acid) that is already approved for human clinical use exhibits the same spectrum of biologic effects as TSA. We suggest that SAHA possibly could provide true, multimodality, salubrious effects for prevention and treatment of the chronic vasculopathy of sickle cell anemia. PMID:20053759

  16. The HDAC inhibitors trichostatin A and suberoylanilide hydroxamic acid exhibit multiple modalities of benefit for the vascular pathobiology of sickle transgenic mice.

    PubMed

    Hebbel, Robert P; Vercellotti, Gregory M; Pace, Betty S; Solovey, Anna N; Kollander, Rahn; Abanonu, Chine F; Nguyen, Julia; Vineyard, Julie V; Belcher, John D; Abdulla, Fuad; Osifuye, Shadé; Eaton, John W; Kelm, Robert J; Slungaard, Arne

    2010-03-25

    The vascular pathobiology of sickle cell anemia involves inflammation, coagulation, vascular stasis, reperfusion injury, iron-based oxidative biochemistry, deficient nitric oxide (NO) bioavailability, and red cell sickling. These disparate pathobiologies intersect and overlap, so it is probable that multimodality therapy will be necessary for this disease. We have, therefore, tested a histone deacetylase (HDAC) inhibitor, trichostatin A (TSA), for efficacy in reducing endothelial activation. We found that pulmonary vascular endothelial VCAM-1 and tissue factor (TF) expression (both are indicators of endothelial activation) are powerfully and significantly inhibited by TSA. This is seen both with pretreatment before the inducing stress of hypoxia/reoxygenation (NY1DD sickle transgenic mouse), and upon longer-term therapy after endothelial activation has already occurred (hBERK1 sickle mouse at ambient air). In addition, TSA prevented vascular stasis in sickle mice, it exhibited activity as an iron chelator, and it induced expression of the antisickling hemoglobin, hemoglobin F. Notably, the TSA analog SAHA (suberoylanilide hydroxaminc acid) that is already approved for human clinical use exhibits the same spectrum of biologic effects as TSA. We suggest that SAHA possibly could provide true, multimodality, salubrious effects for prevention and treatment of the chronic vasculopathy of sickle cell anemia.

  17. 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.

  18. Coronary Artery Anomalies

    MedlinePlus

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  19. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  20. Resection of metastatic liver cancer in a patient with a left-sided gallbladder and intrahepatic portal vein and bile duct anomalies: A case report

    PubMed Central

    Abe, Tomoyuki; Kajiyama, Kiyoshi; Harimoto, Norifumi; Gion, Tomonobu; Shirabe, Ken; Nagaie, Takashi

    2012-01-01

    INTRODUCTION The presence of left-sided gallbladder is closely associated with multiple combined anomalies of the portal vein, hepatic vein, hepatic artery, and bile duct. This requires special attention for preoperative evaluation for the purpose of preventing postoperative complications. PRESENTATION OF CASE A 70-year-old woman with metastatic liver cancer and intrahepatic portal vein, biliary system and hepatic artery anomalies with left-sided gallbladder is reported. On computed tomography (CT), a solitary low density mass occupied from the right anterior to the posterior segment of the liver. The gallbladder bed was on the left of the hepatic fissure. On drip-infusion-cholangiography (DIC) CT three-dimensional (3D) reconstruction, the left medial bile duct arose from the right umbilical portion after arising from the left lateral bile duct. Following a right hepatectomy and lymph node dissection of the hepatoduodenal ligament, hepaticojejunostomy was conducted separately to the left medial and left lateral bile duct. DISCUSSION The left-sided gallbladder accompanies with several anomalies of hepatic vascular and bile duct anomalies in a frequent manner. A safe hepatectomy needs accurate operative plans to ascertain the range of hepatectomy, because it often has the diversity of a combined anomaly. CONCLUSION Preoperative DIC-CT 3D reconstruction was extremely useful because it provided an important information that could not be obtained with 2D-DIC-CT. 3D imaging has the ability to demonstrate complex anatomical relationships, this devise is a effective new tool for making appropriate preoperative strategy. PMID:22365920

  1. Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology--a position statement of the development, anatomy, and pathology ESC Working Group.

    PubMed

    Pérez-Pomares, José María; de la Pompa, José Luis; Franco, Diego; Henderson, Deborah; Ho, Siew Yen; Houyel, Lucile; Kelly, Robert G; Sedmera, David; Sheppard, Mary; Sperling, Silke; Thiene, Gaetano; van den Hoff, Maurice; Basso, Cristina

    2016-02-01

    Congenital coronary artery anomalies are of major significance in clinical cardiology and cardiac surgery due to their association with myocardial ischaemia and sudden death. Such anomalies are detectable by imaging modalities and, according to various definitions, their prevalence ranges from 0.21 to 5.79%. This consensus document from the Development, Anatomy and Pathology Working Group of the European Society of Cardiology aims to provide: (i) a definition of normality that refers to essential anatomical and embryological features of coronary vessels, based on the integrated analysis of studies of normal and abnormal coronary embryogenesis and pathophysiology; (ii) an animal model-based systematic survey of the molecular and cellular mechanisms that regulate coronary blood vessel development; (iii) an organization of the wide spectrum of coronary artery anomalies, according to a comprehensive anatomical and embryological classification scheme; (iv) current knowledge of the pathophysiological mechanisms underlying symptoms and signs of coronary artery anomalies, with diagnostic and therapeutic implications. This document identifies the mosaic-like embryonic development of the coronary vascular system, as coronary cell types differentiate from multiple cell sources through an intricate network of molecular signals and haemodynamic cues, as the necessary framework for understanding the complex spectrum of coronary artery anomalies observed in human patients.

  2. What Is Vascular Disease?

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  3. Vascular Disease Foundation

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  4. Magnetic anomalies. [Magsat studies

    NASA Technical Reports Server (NTRS)

    Harrison, C. G. A.

    1983-01-01

    The implications and accuracy of anomaly maps produced using Magsat data on the scalar and vector magnetic field of the earth are discussed. Comparisons have been made between the satellite maps and aeromagnetic survey maps, showing smoother data from the satellite maps and larger anomalies in the aircraft data. The maps are being applied to characterize the structure and tectonics of the underlying regions. Investigations are still needed regarding the directions of magnetization within the crust and to generate further correlations between anomaly features and large scale geological structures. Furthermore, an increased data base is recommended for the Pacific Ocean basin in order to develop a better starting model for Pacific tectonic movements. The Pacific basin was large farther backwards in time and subduction zones surround the basin, thereby causing difficulties for describing the complex break-up scenario for Gondwanaland.

  5. The de novo formation of a vascular network, in warm-blooded embryos, occurs via a self-assembly process that spans multiple length and time scales

    NASA Astrophysics Data System (ADS)

    Little, Charles D.

    2007-03-01

    Taking advantage of wide-field, time-lapse microscopy we examined the assembly of vascular polygonal networks in whole bird embryos and in explanted embryonic mouse tissue (allantois). Primary vasculogenesis assembly steps range from cellular (1-10 μm) to tissue (100μm-1mm) level events: Individual vascular endothelial cells extend protrusions and move with respect to the extracellular matrix/surrounding tissue. Consequently, long-range, tissue-level, deformations directly influence the vascular pattern. Experimental perturbation of endothelial-specific cell-cell adhesions (VE-cadherin), during mouse vasculogenesis, permitted dissection of the cellular motion required for sprout formation. In particular, cells are shown to move actively onto vascular cords that are subject to strain via tissue deformations. Based on the empirical data we propose a simple model of preferential migration along stretched cells. Numerical simulations reveal that the model evolves into a quasi-stationary pattern containing linear segments, which interconnect above a critical volume fraction. In the quasi-stationary state the generation of new branches offsets the coarsening driven by surface tension. In agreement with empirical data, the characteristic size of the resulting polygonal pattern is density-independent within a wide range of volume fractions. These data underscore the potential of combining physical studies with experimental embryology as a means of studying complex morphogenetic systems. In collaboration with Brenda J. Rongish^1, Andr'as Czir'ok^1,2, Erica D. Perryn^1, Cheng Cui^1, and Evan A. Zamir^1 ^1Department of Anatomy and Cell Biology, the University of Kansas Medical Center, Kansas City, KS ^2Department of Biological Physics, E"otv"os Lor'and University, Budapest, Hungary.

  6. [Clinical symptoms and signs in Kimmerle anomaly].

    PubMed

    Split, Wojciech; Sawrasewicz-Rybak, Małgorzata

    2002-01-01

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

  7. 'T hooft anomaly matching for QCD

    SciTech Connect

    Terning, John

    1998-03-03

    I present a set of theories which display non-trivial 'tHooft anomaly matching for QCD with F flavors. The matching theories arenon-Abelian gauge theories with "dual" quarks and baryons, rather thanthe purely confining theories of baryons that 't Hooft originallysearched for. The matching gauge groups are required to have an Fpm 6dimensional representation. Such a correspondence is reminiscent ofSeiberg's duality for supersymmetric (SUSY) QCD, and these theories arecandidates for non-SUSY duality. However anomaly matching by itself isnot sufficiently restrictive, and duality for QCD cannot be establishedat present. At the very least, the existence of multiple anomaly matchingsolutions should provide a note of caution regarding conjectured non-SUSYdualities.

  8. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

    Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA), compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2%) were diagnosed as having 58 anomalies. The majority of patients had presented in the 3rd month of life; mean age was 81 ± 33 days (range = 20-150 days). There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9%) had vascular anomalies, 13 patients (22.4%) had hernias (umbilical-10, inguinal-3), 7 patients (12.1%) had intestinal malrotation, 4 patients (6.8%) had choledochal cyst, 1 patient (1.7%) had Meckel's diverticulum, 3 patients (5%) had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1), 2 patients (3.4%) had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4%) had spleniculi, and 2 patients (3.4%) were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a “generalized” insult during embryogenesis rather than a “localized” defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports. PMID:26862288

  9. Multiple, delayed post-tonsillectomy bleedings in 11-year-old girl as a result of vascular abnormality and anastomosis. Case report.

    PubMed

    Pucher, Beata; Szydlowski, Jaroslaw; Smoczyk, Wieslaw; Jonczyk-Potoczna, Katarzyna; Grzegorowski, Michal; Korytowska, Aleksandra

    2016-11-01

    Tonsillectomy and adenoidectomy are the most common surgical procedures in pediatric otolaryngology. The incidence of primary hemorrhage after tonsillectomy in children ranges from 0.38 to 6%. The prevalence of secondary bleeding occurs in 0.5%-9.3% cases [1]. Authors present a case of an 11-year-old girl who experienced 6 delayed, massive post-tonsillectomy bleedings as a result of presence of vascular malformation and the activation of collateral circulation as a result of the left ECA ligature.

  10. MR imaging of soft-tissue vascular malformations: diagnosis, classification, and therapy follow-up.

    PubMed

    Flors, Lucía; Leiva-Salinas, Carlos; Maged, Ismaeel M; Norton, Patrick T; Matsumoto, Alan H; Angle, John F; Hugo Bonatti, Md; Park, Auh Whan; Ahmad, Ehab Ali; Bozlar, Ugur; Housseini, Ahmed M; Huerta, Thomas E; Hagspiel, Klaus D

    2011-01-01

    Vascular malformations and tumors comprise a wide, heterogeneous spectrum of lesions that often represent a diagnostic and therapeutic challenge. Frequent use of an inaccurate nomenclature has led to considerable confusion. Since the treatment strategy depends on the type of vascular anomaly, correct diagnosis and classification are crucial. Magnetic resonance (MR) imaging is the most valuable modality for classification of vascular anomalies because it accurately demonstrates their extension and their anatomic relationship to adjacent structures. A comprehensive assessment of vascular anomalies requires functional analysis of the involved vessels. Dynamic time-resolved contrast material-enhanced MR angiography provides information about the hemodynamics of vascular anomalies and allows differentiation of high-flow and low-flow vascular malformations. Furthermore, MR imaging is useful in assessment of treatment success and establishment of a long-term management strategy. Radiologists should be familiar with the clinical and MR imaging features that aid in diagnosis of vascular anomalies and their proper classification. Furthermore, they should be familiar with MR imaging protocols optimized for evaluation of vascular anomalies and with their posttreatment appearances. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.315105213/-/DC1.

  11. Hawking radiation and covariant anomalies

    SciTech Connect

    Banerjee, Rabin; Kulkarni, Shailesh

    2008-01-15

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

  12. XYY chromosome anomaly and schizophrenia.

    PubMed

    Rajagopalan, M; MacBeth, R; Varma, S L

    1998-02-07

    Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

  13. Magnetic resonance imaging of fetal developmental anomalies.

    PubMed

    Girard, Nadine J

    2011-02-01

    Fetal developmental anomalies consist of central nervous system malformations, brain injury, and tumors. Overlap is often seen especially between malformation and injury because malformation may be genetically determined or related to external causative agent, whereas brain injury may be, on one hand, caused by malformation as with intracranial vascular malformation and, on another, can cause brain malformation when cerebral insult occurs during organogenesis and histogenesis. The goal of this review was not to describe by magnetic resonance imaging (MRI) all fetal developmental anomalies encountered in utero; it is most likely to focus on fetal brain anomalies that either are most commonly seen in fetal tertiary care facility or are extremely challenging for MRI. Consequently, the potential of advanced MR techniques such as proton MR spectroscopy and diffusion tensor imaging is also described especially when a challenge is highlighted. This review is therefore organized in subchapters as follows. The first section gives the place of MRI in prenatal development and cites the standard protocol and the advanced techniques. The rules of fetal brain MRI, the challenge and pitfalls, and the selection of MRI cases follow as 3 subchapters. Also, abnormalities are described as 3 separate subchapters entitled ventriculomegalies (hydrocephalus), malformations, and brain injury.

  14. Locally vascularized pelvic accessory spleen.

    PubMed

    Iorio, F; Frantellizzi, V; Drudi, Francesco M; Maghella, F; Liberatore, M

    2016-01-01

    Polysplenism and accessory spleen are congenital, usually asymptomatic anomalies. A rare case of polysplenism with ectopic spleen in pelvis of a 67-year-old, Caucasian female is reported here. A transvaginal ultrasound found a soft well-defined homogeneous and vascularized mass in the left pelvis. Patient underwent MRI evaluation and contrast-CT abdominal scan: images with parenchymal aspect, similar to spleen were obtained. Abdominal scintigraphy with 99mTc-albumin nanocolloid was performed and pelvic region was studied with planar scans and SPECT. The results showed the presence of an uptake area of the radiopharmaceutical in the pelvis, while the spleen was normally visualized. These findings confirmed the presence of an accessory spleen with an artery originated from the aorta and a vein that joined with the superior mesenteric vein. To our knowledge, in the literature, there is just only one case of a true ectopic, locally vascularized spleen in the pelvis.

  15. Creating chiral anomalies

    NASA Astrophysics Data System (ADS)

    Bradlyn, Barry; Cano, Jennifer; Wang, Zhijun; Hirschberger, Max; Ong, N. Phuan; Bernevig, B. Andrei

    Materials with intrinsic Weyl points should present exotic magnetotransport phenomena due to spectral flow between Weyl nodes of opposite chirality - the so-called ``chiral anomaly''. However, to date, the most definitive transport data showing the presence of a chiral anomaly comes from Dirac (not Weyl) materials. These semimetals develop Weyl fermions only in the presence of an externally applied magnetic field, when the four-fold degeneracy is lifted. In this talk we examine Berry phase effects on transport due to the emergence of these field-induced Weyl point and (in some cases) line nodes. We pay particular attention to the differences between intrinsic and field-induced Weyl fermions, from the point of view of kinetic theory. Finally, we apply our analysis to a particular material relevant to current experiments performed at Princeton.

  16. Ebstein Anomaly in Pregnancy.

    PubMed

    Rusdi, Lusiani; Azizi, Syahrir; Suwita, Christopher; Karina, Astrid; Nasution, Sally A

    2016-10-01

    A 27-year-old primiparous woman with 28 weeks gestational age was admitted to our hospital with worsening shortness of breath. She was diagnosed with Ebstein's anomaly three years ago, but preferred to be left untreated. The patient was not cyanotic and her vital signs were stable. Her ECG showed incomplete RBBB and prolonged PR-interval. Blood tests revealed mild anemia. Observation of two-dimensional echo with color flow Doppler study showed Ebstein's anomaly with PFO as additional defects, EF of 57%, LV and LA dilatation, RV atrialization, severe TR, and moderate PH with RVSP of 44.3 mmHg. The patient then underwent elective sectio caesaria at 30 weeks of gestational age; both the mother and her baby were alive and were in good conditions.

  17. 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.

  18. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  19. Vascular dementia

    PubMed Central

    Korczyn, Amos D; Vakhapova, Veronika; Grinberg, Lea T

    2012-01-01

    The epidemic grow of dementia causes great concern for the society. It is customary to consider Alzheimer’s disease (AD) as the most common cause of dementia, followed by vascular dementia (VaD). This dichotomous view of a neurodegenerative disease as opposed to brain damage caused by extrinsic factors led to separate lines of research in these two entities. Indeed, accumulated data suggest that the two disorders have additive effects and probably interact; however it is still unknown to what degree. Furthermore, epidemiological studies have shown “vascular” risk factors to be associated with AD. Therefore, a clear distinction between AD and VaD cannot be made in most cases, and is furthermore unhelpful. In the absence of efficacious treatment for the neurodegenerative process, special attention must be given to vascular component, even in patients with presumed mixed pathology. Symptomatic treatment of VaD and AD are similar, although the former is less effective. For prevention of dementia it is important to treat aggressively all factors, even in stroke survivors who do not show evidence of cognitive decline,. In this review, we will give a clinical and pathological picture of the processes leading to VaD and discuss it interaction with AD. PMID:22575403

  20. Spectral Methods for Magnetic Anomalies

    NASA Astrophysics Data System (ADS)

    Parker, R. L.; Gee, J. S.

    2013-12-01

    Spectral methods, that is, those based in the Fourier transform, have long been employed in the analysis of magnetic anomalies. For example, Schouten and MaCamy's Earth filter is used extensively to map patterns to the pole, and Parker's Fourier transform series facilitates forward modeling and provides an efficient algorithm for inversion of profiles and surveys. From a different, and perhaps less familiar perspective, magnetic anomalies can be represented as the realization of a stationary stochastic process and then statistical theory can be brought to bear. It is vital to incorporate the full 2-D power spectrum, even when discussing profile data. For example, early analysis of long profiles failed to discover the small-wavenumber peak in the power spectrum predicted by one-dimensional theory. The long-wavelength excess is the result of spatial aliasing, when energy leaks into the along-track spectrum from the cross-track components of the 2-D spectrum. Spectral techniques may be used to improve interpolation and downward continuation of survey data. They can also evaluate the reliability of sub-track magnetization models both across and and along strike. Along-strike profiles turn out to be surprisingly good indicators of the magnetization directly under them; there is high coherence between the magnetic anomaly and the magnetization over a wide band. In contrast, coherence is weak at long wavelengths on across-strike lines, which is naturally the favored orientation for most studies. When vector (or multiple level) measurements are available, cross-spectral analysis can reveal the wavenumber interval where the geophysical signal resides, and where noise dominates. One powerful diagnostic is that the phase spectrum between the vertical and along-path components of the field must be constant 90 degrees. To illustrate, it was found that on some very long Project Magnetic lines, only the lowest 10% of the wavenumber band contain useful geophysical signal. In this

  1. 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.

  2. Detecting Patterns of Anomalies

    DTIC Science & Technology

    2009-03-01

    ct)P (bt|ct) , where A,B and C are mutually exclusive subsets of attributes with at most k elements . This ratio is similar to the previous formula , but...AND SUBTITLE Detecting Patterns of Anomalies 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e...to be dependent if, µ(A,B) ≥ βµ (2.1) where, βµ is a threshold parameter, set to a low value of 0.1 ( empirically ) in our experi- ments. Thus, for a

  3. 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.

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

    PubMed Central

    2013-01-01

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

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

    PubMed

    Dolic, Kresimir; Siddiqui, Adnan H; Karmon, Yuval; Marr, Karen; Zivadinov, Robert

    2013-06-27

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

  6. Turtle Carapace Anomalies: The Roles of Genetic Diversity and Environment

    PubMed Central

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

    2011-01-01

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

  7. Einstein, Entropy and Anomalies

    NASA Astrophysics Data System (ADS)

    Sirtes, Daniel; Oberheim, Eric

    2006-11-01

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

  8. 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

  9. Detecting anomalies in CMB maps: a new method

    SciTech Connect

    Neelakanta, Jayanth T.

    2015-10-01

    Ever since WMAP announced its first results, different analyses have shown that there is weak evidence for several large-scale anomalies in the CMB data. While the evidence for each anomaly appears to be weak, the fact that there are multiple seemingly unrelated anomalies makes it difficult to account for them via a single statistical fluke. So, one is led to considering a combination of these anomalies. But, if we ''hand-pick'' the anomalies (test statistics) to consider, we are making an a posteriori choice. In this article, we propose two statistics that do not suffer from this problem. The statistics are linear and quadratic combinations of the a{sub ℓ m}'s with random co-efficients, and they test the null hypothesis that the a{sub ℓ m}'s are independent, normally-distributed, zero-mean random variables with an m-independent variance. The motivation for considering multiple modes is this: because most physical models that lead to large-scale anomalies result in coupling multiple ℓ and m modes, the ''coherence'' of this coupling should get enhanced if a combination of different modes is considered. In this sense, the statistics are thus much more generic than those that have been hitherto considered in literature. Using fiducial data, we demonstrate that the method works and discuss how it can be used with actual CMB data to make quite general statements about the incompatibility of the data with the null hypothesis.

  10. DNA Damage and Repair in Vascular Disease.

    PubMed

    Uryga, Anna; Gray, Kelly; Bennett, Martin

    2016-01-01

    DNA damage affecting both genomic and mitochondrial DNA is present in a variety of both inherited and acquired vascular diseases. Multiple cell types show persistent DNA damage and a range of lesions. In turn, DNA damage activates a variety of DNA repair mechanisms, many of which are activated in vascular disease. Such DNA repair mechanisms either stall the cell cycle to allow repair to occur or trigger apoptosis or cell senescence to prevent propagation of damaged DNA. Recent evidence has indicated that DNA damage occurs early, is progressive, and is sufficient to impair function of cells composing the vascular wall. The consequences of persistent genomic and mitochondrial DNA damage, including inflammation, cell senescence, and apoptosis, are present in vascular disease. DNA damage can thus directly cause vascular disease, opening up new possibilities for both prevention and treatment. We review the evidence for and the causes, types, and consequences of DNA damage in vascular disease.

  11. Vascular permeability, vascular hyperpermeability and angiogenesis

    PubMed Central

    Nagy, Janice A.; Benjamin, Laura; Zeng, Huiyan; Dvorak, Ann M.

    2008-01-01

    The vascular system has the critical function of supplying tissues with nutrients and clearing waste products. To accomplish these goals, the vasculature must be sufficiently permeable to allow the free, bidirectional passage of small molecules and gases and, to a lesser extent, of plasma proteins. Physiologists and many vascular biologists differ as to the definition of vascular permeability and the proper methodology for its measurement. We review these conflicting views, finding that both provide useful but complementary information. Vascular permeability by any measure is dramatically increased in acute and chronic inflammation, cancer, and wound healing. This hyperpermeability is mediated by acute or chronic exposure to vascular permeabilizing agents, particularly vascular permeability factor/vascular endothelial growth factor (VPF/VEGF, VEGF-A). We demonstrate that three distinctly different types of vascular permeability can be distinguished, based on the different types of microvessels involved, the composition of the extravasate, and the anatomic pathways by which molecules of different size cross-vascular endothelium. These are the basal vascular permeability (BVP) of normal tissues, the acute vascular hyperpermeability (AVH) that occurs in response to a single, brief exposure to VEGF-A or other vascular permeabilizing agents, and the chronic vascular hyperpermeability (CVH) that characterizes pathological angiogenesis. Finally, we list the numerous (at least 25) gene products that different authors have found to affect vascular permeability in variously engineered mice and classify them with respect to their participation, as far as possible, in BVP, AVH and CVH. Further work will be required to elucidate the signaling pathways by which each of these molecules, and others likely to be discovered, mediate the different types of vascular permeability. PMID:18293091

  12. 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

  13. 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.

  14. [Horseshoe kidney: not a simple fusion anomaly].

    PubMed

    Caccetta, Francesco; Caroppo, Maurizio; Musio, Fernando; Mudoni, Anna; Accogli, Antonella; Zacheo, Maria Dolores; Burzo, Domenica; Bramato, Daniele; Carluccio, Giancamillo; Nuzzo, Vitale

    2015-01-01

    The horseshoe kidney is a congenital anatomical defect of the kidney that occurs in 0,25% of the population and is generally characterized by the fusion of the lower poles of the two kidneys through an isthmus and to which may be associated with urogenital and renal vascular anomalies. Asymptomatic in 1/3 of the cases and, most of time, accidentally discovered during a radiological examination, promotes nephrolithiasis, ureteropelvic junction obstruction, hydronephrosis, vesicoureteral reflux and pyelonephritis. We report two cases of patients with kidney horseshoe, characterized by the abrupt onset of a septic state with oligo-anuric acute renal failure, electrolyte and acid-base abnormalities, rapid decay of the general conditions, with detection of nephrolithiasis, hydronephrosis and acute pyelonephritis and whose clinical management resulted in a significant and synergistic nefro-urology involvment. The kidney horseshoe not represent so only a simple fusion anomaly but rather an important anatomical condition that, once diagnosed, it would be worthy of a careful clinical, radiological and laboratory surveillance, in order to prevent the potential complications that may be also particularly severe.

  15. Multiple fusiform cerebral aneurysms – case report

    PubMed Central

    Jaworska, Katarzyna; Dołowy, Joanna; Kuśmierska, Małgorzata; Kuniej, Tomasz; Jaźwiec, Przemysław

    2012-01-01

    Summary Background: A true aneurysym is a dilation of arterial lumen as a consequence of congenital or acquired abnormalities leading to a reduction of mechanical resistance of vascular wall, most commonly caused by its defected structure in the form of absence or weakening of the muscular and/or elastic layer. From the pathophysiological point of view, cerebral aneurysms can be classified as ‘saccular’ – most commonly occurring, and ‘other types’, including fusiform/dolichoectatic, dissecting, serpentine, posttraumatic, mycotic and giant aneurysms with or without intra-aneurysmal thrombosis. Case Report: We present a rare case of a patient with multiple fusiform dilations of cerebral vessels and giant fusiform aneurysm in supraclinoid segment of the internal carotid artery. The patient presented to hospital because of sudden, severe vertigo with nausea, impaired balance and disturbed vision. Vascular anomalies were detected on CT scanning without contrast. The diagnostic work-up was complemented by CT angiography, MRI and cerebral angiography. Conclusions: Aneurysm located within the intracranial arteries is one of the most common vascular defects of the brain. The number, size and location of aneurysms are highly variable. Aneurysms can have either supra- or infratentorial location, affecting a single or multiple arteries within one or both brain hemispheres. There is often a correlation between the location of the aneurysm and its etiology, as in case of so-called mirror-image aneurysms. Symmetrically located aneurysms may indicate a defect in vascular structure. Asymmetric location, as in the patient described above, is more likely due to acquired causes, mainly atherosclerosis, but also septic emboli or blood disorders. PMID:22802866

  16. 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.

  17. Brain anomalies in velo-cardio-facial syndrome

    SciTech Connect

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

    1994-06-15

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

  18. An Lysophosphatidic Acid Receptors 1 and 3 Axis Governs Cellular Senescence of Mesenchymal Stromal Cells and Promotes Growth and Vascularization of Multiple Myeloma.

    PubMed

    Kanehira, Masahiko; Fujiwara, Tohru; Nakajima, Shinji; Okitsu, Yoko; Onishi, Yasushi; Fukuhara, Noriko; Ichinohasama, Ryo; Okada, Yoshinori; Harigae, Hideo

    2017-03-01

    Mesenchymal stromal cells (MSCs) are multipotent progenitor cells and there is much interest in how MSCs contribute to the regulation of the tumor microenvironment. Whether MSCs exert a supportive or suppressive effect on tumor progression is still controversial, but is likely dependent on a variety of factors that are tumor-type dependent. Multiple myeloma (MM) is characterized by growth of malignant plasma cells in the bone marrow. It has been shown that the progression of MM is governed by MSCs, which act as a stroma of the myeloma cells. Although stroma is created via mutual communication between myeloma cells and MSCs, the mechanism is poorly understood. Here we explored the role of lysophosphatidic acid (LPA) signaling in cellular events where MSCs were converted into either MM-supportive or MM-suppressive stroma. We found that myeloma cells stimulate MSCs to produce autotaxin, an indispensable enzyme for the biosynthesis of LPA, and LPA receptor 1 (LPA1) and 3 (LPA3) transduce opposite signals to MSCs to determine the fate of MSCs. LPA3-silenced MSCs (siLPA3-MSCs) exhibited cellular senescence-related phenotypes in vitro, and significantly promoted progression of MM and tumor-related angiogenesis in vivo. In contrast, siLPA1-MSCs showed resistance to cellular senescence in vitro, and efficiently delayed progression of MM and tumor-related angiogenesis in vivo. Consistently, anti-MM effects obtained by LPA1-silencing in MSCs were completely reproduced by systemic administration of Ki6425, an LPA1 antagonist. Collectively, our results indicate that LPA signaling determines the fate of MSCs and has potential as a therapeutic target in MM. Stem Cells 2017;35:739-753.

  19. Plant Vascular Biology 2013: vascular trafficking.

    PubMed

    Ursache, Robertas; Heo, Jung-Ok; Helariutta, Ykä

    2014-04-01

    About 200 researchers from around the world attended the Third International Conference on Plant Vascular Biology (PVB 2013) held in July 2013 at the Rantapuisto Conference Center, in Helsinki, Finland (http://www.pvb2013.org). The plant vascular system, which connects every organ in the mature plant, continues to attract the interest of researchers representing a wide range of disciplines, including development, physiology, systems biology, and computational biology. At the meeting, participants discussed the latest research advances in vascular development, long- and short-distance vascular transport and long-distance signalling in plant defence, in addition to providing a context for how these studies intersect with each other. The meeting provided an opportunity for researchers working across a broad range of fields to share ideas and to discuss future directions in the expanding field of vascular biology. In this report, the latest advances in understanding the mechanism of vascular trafficking presented at the meeting have been summarized.

  20. Vascular malformations: an update on imaging and management.

    PubMed

    Sierre, Sergio; Teplisky, Darío; Lipsich, José

    2016-04-01

    Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular malformation, a proper classification and identification is critical. The objective of this article is to provide the necessary information about the current classification and terminology of vascular anomalies, including basic concepts about available imaging diagnostic and therapeutic tools for the management of such complex condition.

  1. 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.

  2. Anomalies and graded coisotropic branes

    NASA Astrophysics Data System (ADS)

    Li, Yi

    2006-03-01

    We compute the anomaly of the axial U(1) current in the A-model on a Calabi-Yau manifold, in the presence of coisotropic branes discovered by Kapustin and Orlov. Our results relate the anomaly-free condition to a recently proposed definition of graded coisotropic branes in Calabi-Yau manifolds. More specifically, we find that a coisotropic brane is anomaly-free if and only if it is gradable. We also comment on a different grading for coisotropic submanifolds introduced recently by Oh.

  3. Diffusional anomaly and network dynamics in liquid silica

    NASA Astrophysics Data System (ADS)

    Sharma, Ruchi; Mudi, Anirban; Chakravarty, Charusita

    2006-07-01

    The present study applies the power spectral analysis technique to understand the diffusional anomaly in liquid silica, modeled using the Beest-Kramer-van Santen (BKS) potential. Molecular-dynamics simulations have been carried out to show that power spectrum of tagged particle potential energy of silica shows a regime with 1/fα dependence on frequency f which is the characteristic signature of multiple time scale behaviour in networks. As demonstrated earlier in the case of water [J. Chem. Phys. 122, 104507 (2005)], the variations in the mobility associated with the diffusional anomaly are mirrored in the scaling exponent α associated with this multiple time scale behavior. Our results indicate that in the anomalous regime, as the local tetrahedral order decreases with temperature or pressure, the coupling of local modes to network reorganizations increases and so does the diffusivity. This symmetry-dependence of the vibrational couplings is responsible for the connection between the structural and diffusional anomalies.

  4. 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 ...

  5. Spinal anomalies in Pfeiffer syndrome.

    PubMed

    Moore, M H; Lodge, M L; Clark, B E

    1995-05-01

    Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.

  6. Anomaly detection on cup anemometers

    NASA Astrophysics Data System (ADS)

    Vega, Enrique; Pindado, Santiago; Martínez, Alejandro; Meseguer, Encarnación; García, Luis

    2014-12-01

    The performances of two rotor-damaged commercial anemometers (Vector Instruments A100 LK) were studied. The calibration results (i.e. the transfer function) were very linear, the aerodynamic behavior being more efficient than the one shown by both anemometers equipped with undamaged rotors. No detection of the anomaly (the rotors’ damage) was possible based on the calibration results. However, the Fourier analysis clearly revealed this anomaly.

  7. 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.).

  8. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  9. Society for Vascular Medicine

    MedlinePlus

    ... Certification with this new online course from the Society for Vascular Medicine. Learn more. Looking for a ... jobs are listed right now. Copyright © 2016 The Society for Vascular Medicine. All Rights Reserved.

  10. Primary vascular access.

    PubMed

    Gibbons, C P

    2006-05-01

    Primary vascular access is usually achievable by a distal autogenous arterio-venous fistula (AVF). This article describes the approach to vascular access planning, the usual surgical options and the factors affecting patency.

  11. Society for Vascular Medicine

    MedlinePlus

    ... Journal Scientific Sessions Website FAQ Copyright © 2017 The Society for Vascular Medicine. All Rights Reserved. Phone: +1- ... page Videos Training Programs Journal Access the Journal Society Communications Patient Information Pages Vascular Medicine Journal CME ...

  12. Conformal anomaly c-coefficients of superconformal 6d theories

    NASA Astrophysics Data System (ADS)

    Beccaria, Matteo; Tseytlin, Arkady A.

    2016-01-01

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

  13. Ant colony optimization-based firewall anomaly mitigation engine.

    PubMed

    Penmatsa, Ravi Kiran Varma; Vatsavayi, Valli Kumari; Samayamantula, Srinivas Kumar

    2016-01-01

    A firewall is the most essential component of network perimeter security. Due to human error and the involvement of multiple administrators in configuring firewall rules, there exist common anomalies in firewall rulesets such as Shadowing, Generalization, Correlation, and Redundancy. There is a need for research on efficient ways of resolving such anomalies. The challenge is also to see that the reordered or resolved ruleset conforms to the organization's framed security policy. This study proposes an ant colony optimization (ACO)-based anomaly resolution and reordering of firewall rules called ACO-based firewall anomaly mitigation engine. Modified strategies are also introduced to automatically detect these anomalies and to minimize manual intervention of the administrator. Furthermore, an adaptive reordering strategy is proposed to aid faster reordering when a new rule is appended. The proposed approach was tested with different firewall policy sets. The results were found to be promising in terms of the number of conflicts resolved, with minimal availability loss and marginal security risk. This work demonstrated the application of a metaheuristic search technique, ACO, in improving the performance of a packet-filter firewall with respect to mitigating anomalies in the rules, and at the same time demonstrated conformance to the security policy.

  14. Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

    PubMed

    Micale, Mark A; Embrey, Bedford; Macknis, Jacqueline K; Harper, Cheryl E; Aughton, David J

    2016-12-01

    Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor. A needle core biopsy on one of two lesions on the left kidney also revealed Wilms tumor. A partial left nephrectomy revealed focally positive margins that necessitated left flank radiotherapy. The tumor karyotype was 46,XY,t(7;8)(q36;p11)[8]/46,XY [12] while his constitutional karyotype was 46,XY, suggesting that the t(7;8)(q36;p11) was associated with the malignancy. Single nucleotide polymorphism (SNP) chromosome microarray analysis of peripheral blood identified a maternally-inherited 560.49 kb chromosome 2p24.3 duplication that involved four OMIM genes: NBAS, DDX1, MYCNOS, and MYCN. SNP array analysis of the tumor revealed the same 2p24.3 duplication. At present, the now 5-year-old boy continues to do well without clinical or radiographic evidence of recurrent disease. This case is instructive because the child's health insurer initially denied authorization for chromosome microarray analysis (CMA), and it took more than one year before such authorization was finally granted. That initial decision to deny coverage could have had untoward health implications for this child, as the identification of constitutional MYCN duplication necessitated surveillance imaging for a number of pediatric malignancies associated with MYCN overexpression/dysregulation.

  15. Algorithm development for hyperspectral anomaly detection

    NASA Astrophysics Data System (ADS)

    Rosario, Dalton S.

    2008-10-01

    This dissertation proposes and evaluates a novel anomaly detection algorithm suite for ground-to-ground, or air-to-ground, applications requiring automatic target detection using hyperspectral (HS) data. Targets are manmade objects in natural background clutter under unknown illumination and atmospheric conditions. The use of statistical models herein is purely for motivation of particular formulas for calculating anomaly output surfaces. In particular, formulas from semiparametrics are utilized to obtain novel forms for output surfaces, and alternative scoring algorithms are proposed to calculate output surfaces that are comparable to those of semiparametrics. Evaluation uses both simulated data and real HS data from a joint data collection effort between the Army Research Laboratory and the Army Armament Research Development & Engineering Center. A data transformation method is presented for use by the two-sample data structure univariate semiparametric and nonparametric scoring algorithms, such that, the two-sample data are mapped from their original multivariate space to an univariate domain, where the statistical power of the univariate scoring algorithms is shown to be improved relative to existing multivariate scoring algorithms testing the same two-sample data. An exhaustive simulation experimental study is conducted to assess the performance of different HS anomaly detection techniques, where the null and alternative hypotheses are completely specified, including all parameters, using multivariate normal and mixtures of multivariate normal distributions. Finally, for ground-to-ground anomaly detection applications, where the unknown scales of targets add to the problem complexity, a novel global anomaly detection algorithm suite is introduced, featuring autonomous partial random sampling (PRS) of the data cube. The PRS method is proposed to automatically sample the unknown background clutter in the test HS imagery, and by repeating multiple times this

  16. Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bands.

    PubMed

    Zeidler, S; Oudesluijs, G G; Schoonderwaldt, E M; Van Bever, Y

    2014-01-01

    Disruption in early pregnancy can cause severe and multiple congenital anomalies in a foetus. Three sequences, Limb-body wall complex (LBWC), amniotic band sequence (ABS) and body-stalk anomaly (BSA) are thought to be caused by disruption. This case report describes a foetus with severe multiple congenital anomalies, that fit the diagnoses of all three sequences, which might advocate these syndromes are a spectrum of one sequence.

  17. Documentation of anomalies not previously described in Fryns syndrome.

    PubMed

    Arnold, Sonya Rae; Debich-Spicer D, Diane; Opitz, John M; Gilbert-Barness, Enid

    2003-01-15

    We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

  18. Vascular Diseases - Multiple Languages: MedlinePlus

    MedlinePlus

    ... sharing features on this page, please enable JavaScript. Arabic (العربية) Bosnian (Bosanski) Chinese - Simplified (简体中文) Chinese - Traditional ( ... Русский) Somali (af Soomaali) Spanish (español) Ukrainian (Українська) Arabic (العربية) Angiogram (Arabic) العربية Bilingual PDF Health Information ...

  19. Relationship Between Seismic Velocity Anomalies and Rheological Anomalies

    NASA Astrophysics Data System (ADS)

    Karato, S.

    2001-05-01

    One of the ultimate goals of high-resolution Earth models is to reveal anomalies (lateral variations) in thermal and rheological structures. Although such a relationship has been well known at a qualitative level, no quantitative relationship has been established to allow estimate of anomalies in viscosity from seismological data. In this presentation, I formulate such a relationship for Earth's upper mantle, based on the latest mineral physics observations. The key in doing this is the quantitative analysis of the effects of water on seismic wave velocities. Earlier analysis indicated the importance of water on seismic wave velocities through enhanced attenuation (Karato, 1995). I have quantified this notion by combining laboratory observations on attenuation at limited conditions (Jackson et al., 1992) with the recent quantitative data on the effects of water on rheology at wider conditions (Karato and Jung, 2001). I show that both seismic wave velocities and rheology (viscosity) of Earth materials are controlled by "rheologically effective temperature (Teff)" that depends on temperature as well as water content. Such an analysis allows us to define the relationships between velocity anomalies and anomalies in Teff and hence anomalies in viscosity. The present formulation has been applied to the upper mantle beneath northeastern Japan where the high-resolution tomographic images are available. The results show that anomalies in effective temperatures of ~+400 K occur in these regions indicating that viscosity there could be lower than the average values by a factor of ~10 to ~1000. References Jackson, I. et al. (1992), Geophys. J. Int., 108: 517-534. Karato, S. (1995), Proc. Japan Academy, B71: 61-66. Karato, S. and Jung, H. (2001), submitted to Philos. Mag.

  20. 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.

  1. Vascular restoration therapy and bioresorbable vascular scaffold

    PubMed Central

    Wang, Yunbing; Zhang, Xingdong

    2014-01-01

    This article describes the evolution of minimally invasive intervention technologies for vascular restoration therapy from early-stage balloon angioplasty in 1970s, metallic bare metal stent and metallic drug-eluting stent technologies in 1990s and 2000s, to bioresorbable vascular scaffold (BVS) technology in large-scale development in recent years. The history, the current stage, the challenges and the future of BVS development are discussed in detail as the best available approach for vascular restoration therapy. The criteria of materials selection, design and processing principles of BVS, and the corresponding clinical trial results are also summarized in this article. PMID:26816624

  2. Initiation of vascular development.

    PubMed

    Ohashi-Ito, Kyoko; Fukuda, Hiroo

    2014-06-01

    The initiation of vascular development occurs during embryogenesis and the development of lateral organs, such as lateral roots and leaves. Understanding the mechanism underlying the initiation of vascular development has been an important goal of plant biologists. Auxin flow is a crucial factor involved in the initiation of vascular development. In addition, recent studies have identified key factors that regulate the establishment of vascular initial cells in embryos and roots. In this review, we summarize the recent findings in this field and discuss the initiation of vascular development.

  3. A High-Order Statistical Tensor Based Algorithm for Anomaly Detection in Hyperspectral Imagery

    PubMed Central

    Geng, Xiurui; Sun, Kang; Ji, Luyan; Zhao, Yongchao

    2014-01-01

    Recently, high-order statistics have received more and more interest in the field of hyperspectral anomaly detection. However, most of the existing high-order statistics based anomaly detection methods require stepwise iterations since they are the direct applications of blind source separation. Moreover, these methods usually produce multiple detection maps rather than a single anomaly distribution image. In this study, we exploit the concept of coskewness tensor and propose a new anomaly detection method, which is called COSD (coskewness detector). COSD does not need iteration and can produce single detection map. The experiments based on both simulated and real hyperspectral data sets verify the effectiveness of our algorithm. PMID:25366706

  4. [Frequency and causes of vascular complications requiring surgery in patients without primary vascular disease].

    PubMed

    Pongratz, J; Reeps, C; Eckstein, H-H

    2011-10-01

    Arterial and venous vascular injuries are known but rare complications of severe multiple traumatised patients but are meanwhile more frequently induced iatrogenically. However there are only few reports about incidence, causes, surgical techniques and prognosis of these vascular emergencies. We have therefore analysed the causes, type of therapy, localisation of injury, primary dis-ease, morbidity and mortality of all vascular emergencies in patients without preexisting vascular disease. 2.9 % of all vascular repairs in our unit had to be performed for cases of iatrogenic (87 %) and non-iatrogenic (13 %) vascular complications. The overall mortality and major complication rate of these intrahospital iatrogenically aquired lesions were 4.8 % and 5 %, respectively, which are clearly below those of extrahospital vascular injuries. Thereby the observed increase of iatrogenic vascular injuries seems to be due to the increase in complex and even catheter-based techniques in modern therapy. The iliacofemoral region was affected in 45 % of the cases, in 50 % complex reconstructions and specific surgical skills were needed for the repair. This article on the incidence of and reasons for vascular iatrogenic lesions shows the importance of a planned management for the prognosis of these injuries.

  5. Shortening anomalies in supersymmetric theories

    NASA Astrophysics Data System (ADS)

    Gomis, Jaume; Komargodski, Zohar; Ooguri, Hirosi; Seiberg, Nathan; Wang, Yifan

    2017-01-01

    We present new anomalies in two-dimensional N=(2,2) superconformal theories. They obstruct the shortening conditions of chiral and twisted chiral multiplets at coincident points. This implies that marginal couplings cannot be promoted to background superfields in short representations. Therefore, standard results that follow from N=(2,2) spurion analysis are invalidated. These anomalies appear only if supersymmetry is enhanced beyond N=(2,2) . These anomalies explain why the conformal manifolds of the K3 and T 4 sigma models are not Kähler and do not factorize into chiral and twisted chiral moduli spaces and why there are no N=(2,2) gauged linear sigma models that cover these conformal manifolds. We also present these results from the point of view of the Riemann curvature of conformal manifolds.

  6. 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.

  7. The dual targeting of EGFR and ErbB2 with the inhibitor Lapatinib corrects high glucose-induced apoptosis and vascular dysfunction by opposing multiple diabetes-induced signaling changes.

    PubMed

    Benter, Ibrahim F; Sarkhou, Fatima; Al-Khaldi, Abeer T; Chandrasekhar, Bindu; Attur, Sreeja; Dhaunsi, Gursev S; Yousif, Mariam H M; Akhtar, Saghir

    2015-01-01

    The epidermal growth factor receptors, EGFR and EGFR2 (ErbB2), appear important mediators of diabetes-induced vascular dysfunction. We investigated whether targeted dual inhibition of EGFR and ErbB2 with Lapatinib would be effective in treating diabetes-induced vascular dysfunction in a rat model of type 1 diabetes. In streptozotocin-induced diabetes, chronic 4-week oral or acute, ex vivo, administration of Lapatinib prevented the development of vascular dysfunction as indicated by the attenuation of the hyper-reactivity of the diabetic mesenteric vascular bed (MVB) to norephinephrine without correcting hyperglycemia. Chronic in vivo or acute ex vivo Lapatinib treatment also significantly attenuated diabetes-induced increases in phosphorylation of EGFR, ErbB2, ERK1/2, AKT, ROCK2 and IkB-alpha as well as normalized the reduced levels of phosphorylated FOXO3A, and eNOS (Ser1177) in the diabetic MVB. Similar results were observed in vascular smooth muscle cells (VSMCs) cultured in high glucose (25 mM) treated with Lapatinib or small interfering RNA (siRNA) targeting the ErbB2 receptor. Lapatinib also prevented high glucose-induced apoptosis in VSMC. Thus, Lapatinib corrects hyperglycemia-induced apoptosis and vascular dysfunction with concomitant reversal of diabetes or high glucose-induced signaling changes in EGFR/ErbB2 and downstream signaling pathways implying that targeted dual inhibition of EGFR/ErbB2 might be an effective vasculoprotective treatment strategy in diabetic patients.

  8. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.

    PubMed

    Guion-Almeida, M L; Richieri-Costa, A

    2001-04-01

    We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

  9. Developmental Venous Anomaly: Benign or Not Benign

    PubMed Central

    AOKI, Rie; SRIVATANAKUL, Kittipong

    2016-01-01

    Developmental venous anomalies (DVAs), previously called venous angiomas, are the most frequently encountered cerebral vascular malformations. However, DVA is considered to be rather an extreme developmental anatomical variation of medullary veins than true malformation. DVAs are composed of dilated medullary veins converging centripetally into a large collecting venous system that drains into the superficial or deep venous system. Their etiology and mechanism are generally accepted that DVAs result from the focal arrest of the normal parenchymal vein development or occlusion of the medullary veins as a compensatory venous system. DVAs per se are benign and asymptomatic except for under certain unusual conditions. The pathomechanisms of symptomatic DVAs are divided into mechanical, flow-related causes, and idiopathic. However, in cases of DVAs associated with hemorrhage, cavernous malformations (CMs) are most often the cause rather than DVAs themselves. The coexistence of CM and DVA is common. There are some possibilities that DVA affects the formation and clinical course of CM because CM related to DVA is generally located within the drainage territory of DVA and is more aggressive than isolated CM in the literature. Brain parenchymal abnormalities surrounding DVA and cerebral varix have also been reported. These phenomena are considered to be the result of venous hypertension associated with DVAs. With the advance of diagnostic imagings, perfusion study supports this hypothesis demonstrating that some DVAs have venous congestion pattern. Although DVAs should be considered benign and clinically silent, they can have potential venous hypertension and can be vulnerable to hemodynamic changes. PMID:27250700

  10. Vascularization in bone tissue engineering constructs

    PubMed Central

    Mercado-Pagán, Ángel E.; Stahl, Alexander M.; Shanjani, Yaser; Yang, Yunzhi

    2016-01-01

    Vascularization of large bone grafts is one of the main challenges of bone tissue engineering (BTE), and has held back the clinical translation of engineered bone constructs for two decades so far. The ultimate goal of vascularized BTE constructs is to provide a bone environment rich in functional vascular networks to achieve efficient osseointegration and accelerate restoration of function after implantation. To attain both structural and vascular integration of the grafts, a large number of biomaterials, cells, and biological cues have been evaluated. This review will present biological considerations for bone function restoration, contemporary approaches for clinical salvage of large bone defects and their limitations, state-of-the-art research on the development of vascularized bone constructs, and perspectives on evaluating and implementing novel BTE grafts in clinical practice. Success will depend on achieving full graft integration at multiple hierarchical levels, both between the individual graft components as well as between the implanted constructs and their surrounding host tissues. The paradigm of vascularized tissue constructs could not only revolutionize the progress of bone tissue engineering, but could also be readily applied to other fields in regenerative medicine for the development of new innovative vascularized tissue designs. PMID:25616591

  11. [Congenital anomalies of cerebral artery and intracranial aneurysm].

    PubMed

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

    1976-02-01

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

  12. Ebstein's Anomaly: Anatomo-echocardiographic correlation

    PubMed Central

    Muñoz-Castellanos, Luis; Espinola-Zavaleta, Nilda; Kuri-Nivón, Magdalena; Keirns, Candace

    2007-01-01

    Objective The aim of this investigation is to demonstrate that in Ebstein's Anomaly (EA) the right ventricle (RV) is affected in its three portions and to establish an anatomoechocardiographic correlation between the anatomic features and the equivalent echocardiographic images. Methods Thirty hearts with EA were studied. The alterations of each portions of the RV were described. Fifty adult patients with this anomaly were studied by echocardiography. Results Anatomy: All hearts had atrial situs solitus, 27 had concordant atrioventricular connection and 3 discordant, of these 2 had transposition of the great arteries (TGA) and one double outlet right ventricle (DORV). The degree of tricuspid valve (TV) displacement showed a spectrum from I to III. The inlet of the RV was markedly thin in 27. The trabecular portion had multiples muscular bands in all. The outlet portion was dilated in 20 and stenotic in 5. In 25 atrial septal defects were found. Echocardiography: All patients had atrial situs solitus, 42 with concordant atrioventricular connection and 8 with discordant, of these last patients 5 had TGA and 3 DORV. The degree of TV displacement varied from I to III. The inlet of RV was markedly thin in 42. The trabecular portion had muscular bands in 45. The outlet portion was dilated in 31 and stenotic in 11. In 30 atrial septal defects were found. Conclusion The EA affects the whole RV and the anatomoechocardiographic correlation provides an appropriate understanding of echocardiographic images in terms of a precise diagnosis, therapeutic decisions and prognosis. PMID:18034907

  13. [Vascular dementia: big effects of small lesions].

    PubMed

    Gold, G; Kövari, E

    2011-11-09

    Vascular dementia due to multiple large strokes (multi-infarct dementia) is a well known entity. However, new clinicopathologic and neuroimaging data have highlighted the common occurrence of small vessel and microscopic vascular pathology in aging brains and recognized that vascular dementia due to small lesions is probably the most common form. In such cases, cortical microinfarcts are the strongest correlate of global cognitive function followed by basal ganglia and thalamic lacunes. Demyelination is only weekly associated with cognition and this relation is no longer significant after adjustement for the presence of lacunes. Awareness of the importance of small vascular lesions in brain aging, can improve diagnostic accuracy and help identify new targets, that could lead to novel therapeutic approaches in old age dementia.

  14. 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.

  15. Numerical anomalies mimicking physical effects

    SciTech Connect

    Menikoff, R.

    1995-09-01

    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.

  16. Global gravitational anomalies and transport

    NASA Astrophysics Data System (ADS)

    Chowdhury, Subham Dutta; David, Justin R.

    2016-12-01

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

  17. 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...

  18. Bony anomaly of Meckel's cave.

    PubMed

    Tubbs, R Shane; Salter, E George; Oakes, W Jerry

    2006-01-01

    This study describes the seemingly rare occurrence of bone formation within the proximal superior aspect of Meckel's cave thus forming a bony foramen for the proximal trigeminal nerve to traverse. The anatomy of Meckel's cave is reviewed and the clinical potential for nerve compression from this bony anomaly discussed.

  19. Preliminary Analyses of Beidou Signal-In Anomaly Since 2013

    NASA Astrophysics Data System (ADS)

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

    2016-06-01

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

  20. Geopotential Field Anomaly Continuation with Multi-Altitude Observations

    NASA Technical Reports Server (NTRS)

    Kim, Jeong Woo; Kim, Hyung Rae; von Frese, Ralph; Taylor, Patrick; Rangelova, Elena

    2012-01-01

    Conventional gravity and magnetic anomaly continuation invokes the standard Poisson boundary condition of a zero anomaly at an infinite vertical distance from the observation surface. This simple continuation is limited, however, where multiple altitude slices of the anomaly field have been observed. Increasingly, areas are becoming available constrained by multiple boundary conditions from surface, airborne, and satellite surveys. This paper describes the implementation of continuation with multi-altitude boundary conditions in Cartesian and spherical coordinates and investigates the advantages and limitations of these applications. Continuations by EPS (Equivalent Point Source) inversion and the FT (Fourier Transform), as well as by SCHA (Spherical Cap Harmonic Analysis) are considered. These methods were selected because they are especially well suited for analyzing multi-altitude data over finite patches of the earth such as covered by the ADMAP database. In general, continuations constrained by multi-altitude data surfaces are invariably superior to those constrained by a single altitude data surface due to anomaly measurement errors and the non-uniqueness of continuation.

  1. Geopotential Field Anomaly Continuation with Multi-Altitude Observations

    NASA Technical Reports Server (NTRS)

    Kim, Jeong Woo; Kim, Hyung Rae; vonFrese, Ralph; Taylor, Patrick; Rangelova, Elena

    2011-01-01

    Conventional gravity and magnetic anomaly continuation invokes the standard Poisson boundary condition of a zero anomaly at an infinite vertical distance from the observation surface. This simple continuation is limited, however, where multiple altitude slices of the anomaly field have been observed. Increasingly, areas are becoming available constrained by multiple boundary conditions from surface, airborne, and satellite surveys. This paper describes the implementation of continuation with multi-altitude boundary conditions in Cartesian and spherical coordinates and investigates the advantages and limitations of these applications. Continuations by EPS (Equivalent Point Source) inversion and the FT (Fourier Transform), as well as by SCHA (Spherical Cap Harmonic Analysis) are considered. These methods were selected because they are especially well suited for analyzing multi-altitude data over finite patches of the earth such as covered by the ADMAP database. In general, continuations constrained by multi-altitude data surfaces are invariably superior to those constrained by a single altitude data surface due to anomaly measurement errors and the non-uniqueness of continuation.

  2. Echocardiographic assessment of Ebstein's anomaly.

    PubMed

    Booker, Oscar J; Nanda, Navin C

    2015-01-01

    Ebstein's anomaly is a complex congenital lesion which primarily involves the tricuspid valve. The tricuspid leaflets are tethered to varying degrees to the right ventricular free wall and the ventricular septum often resulting in significant tricuspid regurgitation and a small functioning right ventricular chamber. Although the septal leaflet originates normally at the right atrioventricular junction, the proximal portion is often completely tethered to the ventricular septum resulting in a misconception and erroneous statements in many publications that its attachment is apically displaced. Although two-dimensional echocardiography represents the primary modality for the diagnosis of this anomaly, three-dimensional echocardiography provides incremental value in characterizing the extent and severity of tethering of individual tricuspid valve leaflets. This information is useful in surgical decision making whether to repair or replace the tricuspid valve.

  3. [Ectopia cordis and cardiac anomalies].

    PubMed

    Cabrera, Alberto; Rodrigo, David; Luis, María Teresa; Pastor, Esteban; Galdeano, José Miguel; Esteban, Susana

    2002-11-01

    Ectopia cordis is a rare disease that occurs in 5.5 to 7.9 per million live births. Only 267 cases had been reported as of 2001, most (95%) associated with other cardiac anomalies. We studied the cardiac malformations associated in 6 patients with ectopia cordis. Depending on where the defect was located, the cases of ectopia were classified into four groups: cervical, thoracic, thoraco-abdominal, and abdominal. All 6 patients died before the third day of life, 4 during delivery. Three of the patients were included in the thoracic group, whereas the other 3 belonged to the thoraco-abdominal group. All the patients had associated ventricular septal defects, 3 double-outlet right ventricle (50%) and the rest (50%) tetralogy of Fallot-pulmonary atresia. Two patients with double-outlet right ventricle presented mitral-valve pathology, a parachute valve and an atresic mitral valve. None of these cardiac anomalies have been reported to date.

  4. Four Decades of Hyperfine Anomalies

    NASA Astrophysics Data System (ADS)

    Gustavsson, Martin G. H.; Mårtensson-Pendrill, Ann-Marie

    Isotopic differences in the distribution of nuclear charge and magnetization give rise to "hyperfine structure anomalies" which were observed already in the 1950s. More recently, the distribution of nuclear magnetization has been found to complicate the interpretation of the measured hyperfine splittings in highly charged hydrogen-like ions. In this paper, results of numerical calculations for a few hydrogen-like systems (133Cs, 165Ho, 185,187Re and 209Bi) of current experimental interest are presented in terms of moments of the nuclear charge and magnetization distribution, thereby displaying directly the sensitivity and emphasizing the need for a better understanding of nuclear wavefunctions. In addition, we also present results of many-body perturbation theory calculations for Cs hyperfine anomalies, in connection with experiments planned at ISOLDE.

  5. 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.

  6. Congenital pancreatic anomalies, variants, and conditions.

    PubMed

    Alexander, Lauren F

    2012-05-01

    Understanding pancreatic development and the congenital anomalies and variants that result from alterations in normal development allows for better recognition of these anomalies at diagnostic imaging. This article reviews normal pancreatic embryology and anatomy, and the appearance of the more common developmental anomalies and ductal variants, with emphasis on computed tomography and magnetic resonance imaging. Common mimics of masses are also covered.

  7. Syndromes and anomalies associated with cleft

    PubMed Central

    Venkatesh, R.

    2009-01-01

    Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic. A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centre in India. PMID:19884681

  8. [Vascular factors in glaucoma].

    PubMed

    Mottet, B; Aptel, F; Geiser, M; Romanet, J P; Chiquet, C

    2015-12-01

    The exact pathophysiology of glaucoma is not fully understood. Understanding of the vascular pathophysiology of glaucoma requires: knowing the techniques for measuring ocular blood flow and characterizing the topography of vascular disease and the mechanisms involved in this neuropathy. A decreased mean ocular perfusion pressure and a loss of vascular autoregulation are implicated in glaucomatous disease. Early decrease in ocular blood flow has been identified in primary open-angle glaucoma and normal pressure glaucoma, contributing to the progression of optic neuropathy. The vascular damage associated with glaucoma is present in various vascular territories within the eye (from the ophthalmic artery to the retina) and is characterized by a decrease in basal blood flow associated with a dysfunction of vasoregulation.

  9. Fast Anomaly Discovery Given Duplicates

    DTIC Science & Technology

    2012-12-01

    skipping the computations for duplicate points in SN(ui) that have ci larger than k, the runtime complexity is enhanced significantly. That is, in...Fast anomaly discovery given duplicates Jay-Yoon Lee, U Kang, Danai Koutra, Christos Faloutsos Dec 2012 CMU-CS-12-146 School of Computer Science...ES) Carnegie Mellon University,School of Computer Science,Pittsburgh,PA,15213 8. PERFORMING ORGANIZATION REPORT NUMBER 9. SPONSORING/MONITORING

  10. 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.

  11. Astrometric Solar-System Anomalies

    NASA Astrophysics Data System (ADS)

    Anderson, John D.

    2009-05-01

    There are 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 experiences a gain in total orbital energy per unit mass (Anderson et al., Phys. Rev. Lett. 100, 091102). This amounts to a net velocity increase of 13.5 mm/s for the NEAR spacecraft at a closest approach of 539 km, 3.9 mm/s for the Galileo spacecraft at 960 km, and 1.8 mm/s for the Rosetta spacecraft at 1956 km. Next, I suggest the change in the astronomical unit AU is definitely a concern. It is increasing by about 15 cm/yr (Krasinsky and Brumberg, Celes. Mech. & Dynam. Astron. 90, 267). 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 (Anderson et al., Phys. Rev. D 65, 082004). Some, including me, are convinced this effect is of concern, but many 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 increase that is about three times larger than expected (J. G. Williams, DDA/AAS Brouwer Award Lecture, Halifax, Nova Scotia 2006). We suspect that all four anomalies have mundane explanations. However, the possibility that they will be explained by a new theory of gravitation is not ruled out, perhaps analogous to Einstein's 1916 explanation of the excess precession of Mercury's perihelion.

  12. 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.

  13. Anomalies, conformal manifolds, and spheres

    DOE PAGES

    Gomis, Jaume; Hsin, Po-Shen; Komargodski, Zohar; ...

    2016-03-04

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

  14. Anomalies, conformal manifolds, and spheres

    SciTech Connect

    Gomis, Jaume; Hsin, Po-Shen; Komargodski, Zohar; Schwimmer, Adam; Seiberg, Nathan; Theisen, Stefan

    2016-03-04

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

  15. Entanglement entropy and anomaly inflow

    NASA Astrophysics Data System (ADS)

    Hughes, Taylor L.; Leigh, Robert G.; Parrikar, Onkar; Ramamurthy, Srinidhi T.

    2016-03-01

    We study entanglement entropy for parity-violating (time-reversal breaking) quantum field theories on R1 ,2 in the presence of a domain wall between two distinct parity-odd phases. The domain wall hosts a 1 +1 -dimensional conformal field theory (CFT) with nontrivial chiral central charge. Such a CFT possesses gravitational anomalies. It has been shown recently that, as a consequence, its intrinsic entanglement entropy is sensitive to Lorentz boosts around the entangling surface. Here, we show using various methods that the entanglement entropy of the three-dimensional bulk theory is also sensitive to such boosts owing to parity-violating effects, and that the bulk response to a Lorentz boost precisely cancels the contribution coming from the domain wall CFT. We argue that this can naturally be interpreted as entanglement inflow (i.e., inflow of entanglement entropy analogous to the familiar Callan-Harvey effect) between the bulk and the domain-wall, mediated by the low-lying states in the entanglement spectrum. These results can be generally applied to 2 +1 -d topological phases of matter that have edge theories with gravitational anomalies, and provide a precise connection between the gravitational anomaly of the physical edge theory and the low-lying spectrum of the entanglement Hamiltonian.

  16. Surgical treatment of cloacal anomalies.

    PubMed

    Krstic, Z D; Lukac, M; Lukac, R; Smoljanic, Z; Vukadinovic, V; Varinac, D

    2001-05-01

    From 1989-1998 14 patients were treated with cloacal anomalies: 5 typical cloacas (PC), 5 posterior cloacas, and 4 cloacal exstrophies (CE); 12 underwent surgery. Four typical cloacas were resolved with posterior sagittal anorectovagino-urethroplasty (PSARVUP), whereas in the 5th total urogenital mobilization (TUM) was used. Three PCs were managed with transanorectal TUM and 2 with anterior TUM without opening the anal canal and rectum (without a protective colostomy). Two CEs were treated with atypical procedures. Two patients with CE died without surgery and 2 died after surgery due to complex associated anomalies. During postoperative follow-up of 1-8 years, 5 children had voluntary bowel movements and no soiling while the others had soiling with or without enemas; 1 had stress incontinence; 3 were on clean intermittent catheterization due to neurogenic bladder and were dry. PSARVUP provides a satisfactory result if there is no sacral anomaly. TUM makes this operation easier to perform. In patients with a PC it is sometimes possible using TUM to separate the urinary from the genital tract and remove the accessory urethra without opening the anus and rectum.

  17. Stroke injury, cognitive impairment and vascular dementia☆

    PubMed Central

    Kalaria, Raj N.; Akinyemi, Rufus; Ihara, Masafumi

    2016-01-01

    The global burden of ischaemic strokes is almost 4-fold greater than haemorrhagic strokes. Current evidence suggests that 25–30% of ischaemic stroke survivors develop immediate or delayed vascular cognitive impairment (VCI) or vascular dementia (VaD). Dementia after stroke injury may encompass all types of cognitive disorders. States of cognitive dysfunction before the index stroke are described under the umbrella of pre-stroke dementia, which may entail vascular changes as well as insidious neurodegenerative processes. Risk factors for cognitive impairment and dementia after stroke are multifactorial including older age, family history, genetic variants, low educational status, vascular comorbidities, prior transient ischaemic attack or recurrent stroke and depressive illness. Neuroimaging determinants of dementia after stroke comprise silent brain infarcts, white matter changes, lacunar infarcts and medial temporal lobe atrophy. Until recently, the neuropathology of dementia after stroke was poorly defined. Most of post-stroke dementia is consistent with VaD involving multiple substrates. Microinfarction, microvascular changes related to blood–brain barrier damage, focal neuronal atrophy and low burden of co-existing neurodegenerative pathology appear key substrates of dementia after stroke injury. The elucidation of mechanisms of dementia after stroke injury will enable establishment of effective strategy for symptomatic relief and prevention. Controlling vascular disease risk factors is essential to reduce the burden of cognitive dysfunction after stroke. This article is part of a Special Issue entitled: Vascular Contributions to Cognitive Impairment and Dementia edited by M. Paul Murphy, Roderick A. Corriveau and Donna M. Wilcock. PMID:26806700

  18. [State of the art of classification, diagnostics and therapy for cervicofacial hemangiomas and vascular malformations].

    PubMed

    Werner, J A; Eivazi, B; Folz, B J; Dünne, A-A

    2006-12-01

    The successful treatment of vascular anomalies depends on profound knowledge of the biologic behavior of vascular lesions and their correct classification. On the base of the clinical course Mulliken and Glowacki developed a biologic classification that was accepted as official classification by the ISSVA (International Society for the Study of Vascular Anomalies). Based on an extended literature research, this manuscript will give an overview of different internationally accepted treatment concepts. Even if a wait-and-see strategy can be recommended in many cases of uneventful hemangiomas in infants the proliferative growth of such lesions requires an adequate treatment indication. Vascular malformations that persist lifelong require treatment in the majority of the cases, especially when clinical symptoms occur. Based on individual parameters such as the diameter, location or growth behavior, different therapeutic options as cryotherapy, corticosteroids, laser therapy, sclerotherapy, surgical intervention and/or embolisation can be performed successfully. None of those treatment concepts, however, represents the only treatment method of choice.

  19. Vascular Access in Children

    SciTech Connect

    Krishnamurthy, Ganesh Keller, Marc S.

    2011-02-15

    Establishment of stable vascular access is one of the essential and most challenging procedures in a pediatric hospital. Many clinical specialties provide vascular service in a pediatric hospital. At the top of the 'expert procedural pyramid' is the pediatric interventional radiologist, who is best suited and trained to deliver this service. Growing awareness regarding the safety and high success rate of vascular access using image guidance has led to increased demand from clinicians to provide around-the-clock vascular access service by pediatric interventional radiologists. Hence, the success of a vascular access program, with the pediatric interventional radiologist as the key provider, is challenging, and a coordinated multidisciplinary team effort is essential for success. However, there are few dedicated pediatric interventional radiologists across the globe, and also only a couple of training programs exist for pediatric interventions. This article gives an overview of the technical aspects of pediatric vascular access and provides useful tips for obtaining vascular access in children safely and successfully using image guidance.

  20. 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.

  1. Ebstein Anomaly: An Overview for Nursing.

    PubMed

    Johnstad, Christine M; Hecker-Fernandes, Jill Renee; Fernandes, Regis

    2015-01-01

    Ebstein anomaly is a rare congenital heart defect. Many nurses have probably never encountered this anomaly, with very few able to accurately depict the pathological anatomy of the condition. As technology further develops, providers are better equipped to recognize and manage Ebstein anomaly. There are important considerations for nurses when caring for an individual with Ebstein anomaly. The aim of this article is to give an overview of the condition exploring the pathophysiology, how patients typically present, and how to effectively care for a patient with Ebstein anomaly regarding medical and surgical courses of treatment. It is important for nurses to have a resource to reference on Ebstein anomaly, and the majority of current literature is solely based for medical providers. Furthermore, Ebstein patients may be seen on a variety of units in the hospital beyond cardiology (i.e., pregnant patient with a diagnosis of Ebstein anomaly).

  2. Multiple pterygium syndrome.

    PubMed Central

    Penchaszadeh, V B; Salszberg, B

    1981-01-01

    The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases. Images PMID:7334504

  3. Spacecraft Orbit Anomaly Representation Using Thrust-Fourier-Coefficients with Orbit Determination Toolbox

    NASA Astrophysics Data System (ADS)

    Ko, H.; Scheeres, D.

    2014-09-01

    ) is modified to adapt this technique in order to verify the performance of this interpolation approach. Spacecraft anomaly cases are based on either single or multiple low or high thrust maneuvers and the unknown thrust accelerations are recovered and compared with the true thrust acceleration. The advantage of this approach is to easily append TFCs and its dynamics to the pre-built ODTBX, which enables us to blend post-anomaly tracking data to improve the performance of the interpolation representation in the absence of detailed information about a maneuver. It allows us to improve space situational awareness in the areas of uncertainty propagation, anomaly characterization and track correlation.

  4. [Rare renal anomalies in childhood].

    PubMed

    Arambasić, Jadranka; Puseljić, Silvija; Angebrandt, Snjezana; Puseljić, Ivo

    2003-01-01

    Three patients with megacalycosis, a rare ren anomaly which includes dilatation of all ren calices, are presented. The symptoms of acute uroinfection were present in all three patients. The patients underwent clinical observation, laboratory testing, and renal ultrasound. Ultrasound revealed unilateral hydronephrosis in all three patients. Additional examinations included static and dynamic renal scintigraphy, voiding cystourethrography, and intravenous urography which pointed to unilateral megacalycosis. The symptoms of acute uroinfection were probably triggered by urinary stasis in dilated calices. Surgical intervention is not indicated in megacalycosis. The increasing incidence of uroinfection, urolithiasis and hematuria imposed the need of continuous follow-up in these patients.

  5. Hot Flow Anomalies at Venus

    NASA Technical Reports Server (NTRS)

    Collinson, G. A.; Sibeck, David Gary; Boardsen, Scott A.; Moore, Tom; Barabash, S.; Masters, A.; Shane, N.; Slavin, J.A.; Coates, A.J.; Zhang, T. L.; Sarantos, M.

    2012-01-01

    We present a multi-instrument study of a hot flow anomaly (HFA) observed by the Venus Express spacecraft in the Venusian foreshock, on 22 March 2008, incorporating both Venus Express Magnetometer and Analyzer of Space Plasmas and Energetic Atoms (ASPERA) plasma observations. Centered on an interplanetary magnetic field discontinuity with inward convective motional electric fields on both sides, with a decreased core field strength, ion observations consistent with a flow deflection, and bounded by compressive heated edges, the properties of this event are consistent with those of HFAs observed at other planets within the solar system.

  6. Calcium intake, vascular calcification, and vascular disease.

    PubMed

    Spence, Lisa A; Weaver, Connie M

    2013-01-01

    Recent research has reported a possible link between calcium supplementation and increased risk of cardiovascular disease and its endpoints in healthy, older adults. To evaluate the current evidence regarding the impact of calcium supplementation on cardiovascular disease risk and to address research gaps, the present review was conducted. Systematic reviews and meta-analyses were included, when available, along with original articles. The articles included in the review were obtained from PubMed using the following search terms: calcium intake, calcium supplementation, cardiovascular disease, myocardial infarction, mortality, and vascular calcification. The majority of the studies reviewed demonstrated no statistically significant adverse or beneficial effect of calcium supplementation on cardiovascular disease or its endpoints. While some studies indicate a possible increased risk, there is a lack of consensus on these findings and a need exists to further elucidate a mechanism. More experimental data are necessary to understand the impact of calcium intake, both levels and sources, on vascular calcification and vascular disease. The use of (41)C kinetic modeling in the Ossabaw swine provides an approach for assessing soft tissue calcification in an atherosclerotic and normal state to address research gaps.

  7. Uterine Vascular Lesions

    PubMed Central

    Vijayakumar, Abhishek; Srinivas, Amruthashree; Chandrashekar, Babitha Moogali; Vijayakumar, Avinash

    2013-01-01

    Vascular lesions of the uterus are rare; most reported in the literature are arteriovenous malformations (AVMs). Uterine AVMs can be congenital or acquired. In recent years, there has been an increasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, cesarean delivery, and curettage. It can be seen from these reports that there is confusion concerning the terminology of uterine vascular lesions. There is also a lack of diagnostic criteria and management guidelines, which has led to an increased number of unnecessary invasive procedures (eg, angiography, uterine artery embolization, hysterectomy for abnormal vaginal bleeding). This article familiarizes readers with various vascular lesions of the uterus and their management. PMID:24340126

  8. Collagen vascular disease

    MedlinePlus

    ... developed these disorders were previously said to have "connective tissue" or "collagen vascular" disease. We now have names ... be used. These include as undifferentiated systemic rheumatic (connective tissue) diseases or overlap syndromes. Images Dermatomyositis, heliotrope eyelids ...

  9. Using scan statistics for congenital anomalies surveillance: the EUROCAT methodology.

    PubMed

    Teljeur, Conor; Kelly, Alan; Loane, Maria; Densem, James; Dolk, Helen

    2015-11-01

    Scan statistics have been used extensively to identify temporal clusters of health events. We describe the temporal cluster detection methodology adopted by the EUROCAT (European Surveillance of Congenital Anomalies) monitoring system. Since 2001, EUROCAT has implemented variable window width scan statistic for detecting unusual temporal aggregations of congenital anomaly cases. The scan windows are based on numbers of cases rather than being defined by time. The methodology is imbedded in the EUROCAT Central Database for annual application to centrally held registry data. The methodology was incrementally adapted to improve the utility and to address statistical issues. Simulation exercises were used to determine the power of the methodology to identify periods of raised risk (of 1-18 months). In order to operationalize the scan methodology, a number of adaptations were needed, including: estimating date of conception as unit of time; deciding the maximum length (in time) and recency of clusters of interest; reporting of multiple and overlapping significant clusters; replacing the Monte Carlo simulation with a lookup table to reduce computation time; and placing a threshold on underlying population change and estimating the false positive rate by simulation. Exploration of power found that raised risk periods lasting 1 month are unlikely to be detected except when the relative risk and case counts are high. The variable window width scan statistic is a useful tool for the surveillance of congenital anomalies. Numerous adaptations have improved the utility of the original methodology in the context of temporal cluster detection in congenital anomalies.

  10. The role of visualization and interaction in maritime anomaly detection

    NASA Astrophysics Data System (ADS)

    Riveiro, Maria; Falkman, Göran

    2011-01-01

    The surveillance of large sea, air or land areas normally involves the analysis of large volumes of heterogeneous data from multiple sources. Timely detection and identification of anomalous behavior or any threat activity is an important objective for enabling homeland security. While it is worth acknowledging that many existing mining applications support identification of anomalous behavior, autonomous anomaly detection systems for area surveillance are rarely used in the real world. We argue that such capabilities and applications present two critical challenges: (1) they need to provide adequate user support and (2) they need to involve the user in the underlying detection process. In order to encourage the use of anomaly detection capabilities in surveillance systems, this paper analyzes the challenges that existing anomaly detection and behavioral analysis approaches present regarding their use and maintenance by users. We analyze input parameters, detection process, model representation and outcomes. We discuss the role of visualization and interaction in the anomaly detection process. Practical examples from our current research within the maritime domain illustrate key aspects presented.

  11. ISHM Anomaly Lexicon for Rocket Test

    NASA Technical Reports Server (NTRS)

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

    2007-01-01

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

  12. [Complex vascular access].

    PubMed

    Mangiarotti, G; Cesano, G; Thea, A; Hamido, D; Pacitti, A; Segoloni, G P

    1998-03-01

    Availability of a proper vascular access is a basic condition for a proper extracorporeal replacement in end-stage chronic renal failure. However, biological factors, management and other problems, may variously condition their middle-long term survival. Therefore, personal experience of over 25 years has been critically reviewed in order to obtain useful information. In particular "hard" situations necessitating complex procedures have been examined but, if possible, preserving the peripherical vascular features.

  13. Upward Continuation Apply Newly to Process Gravity Anomaly Data in the East China Sea

    NASA Astrophysics Data System (ADS)

    Han, Bo; Zhang, Xunhua; Jiang, Jinyu

    2014-05-01

    The research area lies in the East China Sea and its adjacent area and the concrete is between 120-130 degree of east longitude and 20-30 degree of north latitude and it also lies between Eurasian Plate and Pacific Plate. The structures of the area transform differently and they are namely Uplifted Zone of Zhejiang-Fujian, East China Sea Shelf Basin, Okinawa Trough Back-arc Basin, Ryukyu Arc, Ryukyu trench and Philippine Sea from west to east. Bouguer gravity anomaly can reflect deep structure characters and it is help to judge deep structures. The bouguer gravity anomalies of the area change differently from west to east. The anomalies increase gradually from land to the middle of Okinawa trough and near land anomaly contour strike accords with coastline and the middle of Okinawa trough reflect the highest anomalies in this area. Gravity anomalies re-increase from Ryukyu fore-arc basin to trench and Ryukyu island arc appears the low anomalies. Philippine Sea appears high gravity anomalies background. Upward continuation method has been used to process original gravity anomaly as a common method and its destination is to weaken local anomaly and at last strengthen deep anomaly and it's important to deep structure study. Upward 5 km, 10 km and 20 km have been used to process data and the results been compared. However, the research area is very large and the deep structure is complex, it isn't suitable to use single height to upward continuation processing bouguer gravity anomaly. Then we propose multiple upward heights continuation to process gravity data respectively in different area. We use upward 20km to process data in the area from land to the slope and upward 10km from Okinawa trough to Ryukyu island arc and upward 5km from Ryukyu trench to Philippine Sea. At last we obtain multiple upward height result and the calculated result confirms that it is fit to use this method. Gravity anomalies contours become smoother than before and the deep structures become

  14. Vascular compression syndromes.

    PubMed

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas

    2015-11-01

    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  15. Resident vascular progenitor cells.

    PubMed

    Torsney, Evelyn; Xu, Qingbo

    2011-02-01

    Homeostasis of the vessel wall is essential for maintaining its function, including blood pressure and patency of the lumen. In physiological conditions, the turnover rate of vascular cells, i.e. endothelial and smooth muscle cells, is low, but markedly increased in diseased situations, e.g. vascular injury after angioplasty. It is believed that mature vascular cells have an ability to proliferate to replace lost cells normally. On the other hand, recent evidence indicates stem/progenitor cells may participate in vascular repair and the formation of neointimal lesions in severely damaged vessels. It was found that all three layers of the vessels, the intima, media and adventitia, contain resident progenitor cells, including endothelial progenitor cells, mesenchymal stromal cells, Sca-1+ and CD34+ cells. Data also demonstrated that these resident progenitor cells could differentiate into a variety of cell types in response to different culture conditions. However, collective data were obtained mostly from in vitro culture assays and phenotypic marker studies. There are many unanswered questions concerning the mechanism of cell differentiation and the functional role of these cells in vascular repair and the pathogenesis of vascular disease. In the present review, we aim to summarize the data showing the presence of the resident progenitor cells, to highlight possible signal pathways orchestrating cell differentiation toward endothelial and smooth muscle cells, and to discuss the data limitations, challenges and controversial issues related to the role of progenitors. This article is part of a special issue entitled, "Cardiovascular Stem Cells Revisited".

  16. Vascular effects of maternal alcohol consumption

    PubMed Central

    Magness, Ronald R.

    2012-01-01

    Maternal alcohol consumption during pregnancy is a significant field of scientific exploration primarily because of its negative effects on the developing fetus, which is specifically defined as fetal alcohol spectrum disorders. Though the effects on the mother are less explored compared with those on the fetus, alcohol produces multiple effects on the maternal vascular system. Alcohol has major effects on systemic hemodynamic variables, endocrine axes, and paracrine factors regulating vascular resistance, as well as vascular reactivity. Alcohol is also reported to have significant effects on the reproductive vasculature including alterations in blood flow, vessel remodeling, and angiogenesis. Data presented in this review will illustrate the importance of the maternal vasculature in the pathogenesis of fetal alcohol spectrum disorders and that more studies are warranted in this field. PMID:22730388

  17. Conductivity Anomalies in Central Europe

    NASA Astrophysics Data System (ADS)

    Neska, Anne

    2016-01-01

    This paper is a review of studies which, by applying the magnetotelluric, geomagnetic deep sounding, and magnetovariational sounding methods (the latter refers to usage of the horizontal magnetic tensor), investigate Central Europe for zones of enhanced electrical conductivity. The study areas comprise the region of the Trans-European Suture Zone (i.e. the south Baltic region and Poland), the North German Basin, the German and Czech Variscides, the Pannonian Basin (Hungary), and the Polish, Slovakian, Ukrainian, and Romanian Carpathians. This part of the world is well investigated in terms of data coverage and of the density of published studies, whereas the certainty that the results lead to comprehensive interpretations varies within the reviewed literature. A comparison of spatially coincident or adjacent studies reveals the important role that the data coverage of a distinct conductivity anomaly plays for the consistency of results. The encountered conductivity anomalies are understood as linked to basin sediments, asthenospheric upwelling, large differences in lithospheric age, and—this concerns most of them, which all concentrate in the middle crust—tectonic boundaries that developed during all mountain building phases that have taken place on the continent.

  18. Surgical management of Ebstein's anomaly.

    PubMed

    Stulak, John M; Dearani, Joseph A; Danielson, Gordon K

    2007-01-01

    Ebstein's malformation is a congenital anomaly of the tricuspid valve and right ventricle. Surgical repair of Ebstein's anomaly improves functional class and exercise tolerance, eliminates right-to-left intracardiac shunting (if present), and reduces the incidence of supraventricular tachyarrhythmias. As a result, quality of life and survival are improved. Because of the variable degree of malformation present, repair is predicated on favorable anatomic factors, most importantly the arrangement of the anterior leaflet of the tricuspid valve. When anatomic derangements threaten a durable tricuspid valve repair, valve replacement with protection of the conduction tissue and right coronary artery should be performed. The vast majority of patients can undergo a biventricular repair. The application of the bidirectional cavopulmonary anastomosis is reserved for patients with poor right ventricular function. Freedom from reoperation after tricuspid valve repair is similar when compared with valve replacement. In the current era, overall early mortality after surgical repair in children and adults has fallen to less than 3% in experienced centers. Surgical treatment of the symptomatic neonate remains a significant challenge, with approaches that include either a biventricular or single ventricle algorithm.

  19. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease.

  20. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents – diagnosis, clinic, and therapy

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  1. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  2. Antioxidants and vascular health.

    PubMed

    Bielli, Alessandra; Scioli, Maria Giovanna; Mazzaglia, Donatella; Doldo, Elena; Orlandi, Augusto

    2015-12-15

    Oxygen free radicals and other reactive oxygen species (ROS) are common products of normal aerobic cellular metabolism, but high levels of ROS lead to oxidative stress and cellular damage. Increased production of ROS favors vascular dysfunction, inducing altered vascular permeability and inflammation, accompanied by the loss of vascular modulatory function, the imbalance between vasorelaxation and vasoconstriction, and the aberrant expression of inflammatory adhesion molecules. Inflammatory stimuli promote oxidative stress generated from the increased activity of mitochondrial nicotinamide adenine dinucleotide phosphate oxidase, particularly of the Nox4 isoform, with the consequent impairment of mitochondrial β-oxidation. Vascular dysfunction due to the increase in Nox4 activity and ROS overproduction leads to the progression of cardiovascular diseases, diabetes, inflammatory bowel disease, and neurological disorders. Considerable research into the development of effective antioxidant therapies using natural derivatives or new synthetic molecules has been conducted. Antioxidants may prevent cellular damage by reducing ROS overproduction or interfering in reactions that involve ROS. Vitamin E and ascorbic acid are well known as natural antioxidants that counteract lipid peroxidative damage by scavenging oxygen-derived free radicals, thus restoring vascular function. Recently, preliminary studies on natural antioxidants such as goji berries, thymus, rosemary, green tea ginseng, and garlic have been conducted for their efficacy in preventing vascular damage. N-acetyl-cysteine and propionyl-L-carnitine are synthetic compounds that regulate ROS production by replacing endogenous antioxidants in both endothelial and smooth muscle cells. In this review, we consider the molecular mechanisms underlying the generation of oxidative stress-induced vascular dysfunction as well as the beneficial effects of antioxidant therapies.

  3. Debendox does not cause the Poland anomaly.

    PubMed

    David, T J

    1982-06-01

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

  4. Debendox does not cause the Poland anomaly.

    PubMed Central

    David, T J

    1982-01-01

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

  5. Galilean anomalies and their effect on hydrodynamics

    NASA Astrophysics Data System (ADS)

    Jain, Akash

    2016-03-01

    We study flavor and gravitational anomalies in Galilean theories coupled to torsional Newton-Cartan backgrounds. We establish that the relativistic anomaly inflow mechanism with an appropriately modified anomaly polynomial can be used to generate these anomalies. Similar to the relativistic case, we find that Galilean anomalies also survive only in even dimensions. Further, these anomalies only effect the flavor and rotational symmetries of a Galilean theory; in particular, the Milne boost symmetry remains nonanomalous. We also extend the transgression machinery used in relativistic fluids to Galilean fluids, and use it to determine how these anomalies affect the constitutive relations of a Galilean fluid. Unrelated to the Galilean fluids, we propose an analogue of the off-shell second law of thermodynamics for relativistic fluids, to include torsion and a conserved spin current in the vielbein formalism. Interestingly, we find that even in the absence of spin current and torsion the entropy currents in the two formalisms are different: while the usual entropy current gets a contribution from the gravitational anomaly, the entropy current in the vielbein formalism does not have any anomaly-induced part.

  6. Consistent anomalies of the induced W gravities

    NASA Astrophysics Data System (ADS)

    Abud, Mario; Ader, Jean-Pierre; Cappiello, Luigi

    1996-02-01

    The BRST anomaly which may be present in the induced Wn gravity quantized on the light-cone is evaluated in the geometrical framework of Zucchini. The cocycles linked by the cohomology of the BRST operator to the anomaly are straightforwardly calculated thanks to the analogy between this formulation and the Yang-Mills theory. We give also a conformally covariant formulation of these quantities including the anomaly, which is valid on arbitrary Riemann surfaces. The example of the W3 theory is discussed and a comparison with other candidates for the anomaly available in the literature is presented.

  7. The magnetic anomaly of the Ivreazone

    NASA Technical Reports Server (NTRS)

    Albert, G.

    1979-01-01

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

  8. Not all symptoms disappear after vascular ring division: a pathophysiological interpretation.

    PubMed

    Zani, Augusto; Morini, Francesco; Paolantonio, Pasquale; Cozzi, Denis A

    2008-05-01

    Vascular rings are a group of cardiovascular lesions due to faulty embryological development derived from an abnormality of neural crest cells (cephalic neurocristopathy). In addition to peculiar symptoms due to compression on the trachea and/or the esophagus, patients with vascular rings might present further features of neural crest-related defects. We report on a case of a child with complete vascular ring, affected both by compressive symptoms and by autonomic disturbances and minor facial anomalies. The autonomic disturbances are clinical features of maturational dysautonomia and tend to disappear with aging, whereas major compressive symptoms are solved by surgery.

  9. Peters anomaly in a red kangaroo (Macropus rufus).

    PubMed

    Suedmeyer, Wm Kirk; Pearce, Jacqueline; Persky, Meredith; Houck, Marlys L

    2014-09-01

    A 10-mo-old female red kangaroo (Macropus rufus) presented with a unilateral congenital corneal opacity OD. Complete ophthalmic examination revealed a shallow anterior chamber and a focal area of corneal edema with multiple persistent pupillary membranes extending from the iris colarette to the corneal endothelium adjacent to the edematous area of cornea. High-resolution B-scan ultrasound of the anterior segment showed an area consistent with thinning of Descemet's membrane in the area of corneal edema. Ophthalmic examination and ultrasound findings are consistent with a diagnosis of Peters anomaly, a form of anterior segment dysgenesis. An electroretinogram performed on the affected animal did not reveal any specific abnormalities. Karyotype analyses revealed a normal diploid number (2n = 20, -XX), with an abnormal pericentric inversion in the second largest chromosomal pair. The kangaroo exhibits mild compensated vision deficits in the affected eye. The maternal and paternal adult pairing has been discontinued in an effort to prevent future offspring anomalies.

  10. A Constellation of Cardiac Anomalies: Beyond Shone's Complex

    PubMed Central

    Ganju, Neeraj K.; Kandoria, Arvind; Thakur, Suresh; Ganju, Sunite A.

    2016-01-01

    Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into coronary sinus and severe pulmonary artery hypertension. This case report highlights the importance of a strong clinical suspicion of the coexistence of multiple congenital cardiac anomalies in Shone's complex and the significance of a careful comprehensive echocardiography. PMID:27293526

  11. A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

    PubMed

    Ganju, Neeraj K; Kandoria, Arvind; Thakur, Suresh; Ganju, Sunite A

    2016-01-01

    Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into coronary sinus and severe pulmonary artery hypertension. This case report highlights the importance of a strong clinical suspicion of the coexistence of multiple congenital cardiac anomalies in Shone's complex and the significance of a careful comprehensive echocardiography.

  12. Thymus transplantation in complete DiGeorge anomaly.

    PubMed

    Markert, M Louise; Devlin, Blythe H; Chinn, Ivan K; McCarthy, Elizabeth A

    2009-01-01

    Complete DiGeorge anomaly is characterized by athymia, congenital heart disease, and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one-third of patients present with rash and lymphadenopathy associated with oligoclonal "host" T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, of whom 36 survive. The survivors develop naïve T cells and a diverse T cell repertoire.

  13. Classical anomalies for spinning particles

    NASA Astrophysics Data System (ADS)

    Gamboa, Jorge; Plyushchay, Mikhail

    1998-02-01

    We discuss the phenomenon of classical anomaly. It is observed for 3D Berezin-Marinov (BM), Barducci-Casalbuoni-Lusanna (BCL) and Cortés-Plyushchay-Velázquez (CPV) pseudoclassical spin particle models. We show that quantum mechanically these different models correspond to the same P, T-invariant system of planar fermions, but the quantum system has global symmetries being not reproducible classically in full in any of the models. We demonstrate that the specific U(1) gauge symmetry characterized by the opposite coupling constants of spin s = + {1}/{2} and s = - {1}/{2} states has a natural classical analog in the CPV model but can be reproduced in the BM and BCL models in an obscure and rather artificial form. We also show that the BM and BCL models quantum mechanically are equivalent in any odd-dimensional space-time, but describe different quantum systems in even space-time dimensions.

  14. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  15. Large vascular malformation in a child presenting with vascular steal phenomenon managed with pial synangiosis.

    PubMed

    Ellis, Michael J; Armstrong, Derek; Dirks, Peter B

    2011-01-01

    The management of large and giant arteriovenous malformations (AVMs) in patients presenting with nonhemorrhagic neurological deficits secondary to vascular steal phenomenon is challenging and controversial. In many cases, large AVMs cannot be completely excised or cured, leaving patients with residual or partially treated AVMs, the natural history of which is unknown. Additionally, large, diffuse vascular malformations with multiple, small feeders, slow flow, or so-called cerebral proliferative angiopathy represent a related but distinct clinical and angiographic entity that may require a different therapeutic approach than traditional brain AVMs. The current management of children with other conditions of chronic cerebral hypoperfusion, such as moyamoya disease, involves consideration of surgical revascularization to enhance blood flow to the compromised hemisphere. Here, the authors present the case of a young child with a large thalamic vascular malformation who presented with clinical and radiological features of vascular steal and ischemia. In an effort to augment flow to the hypoperfused brain and protect against future ischemia, the authors treated the child with unilateral pial synangiosis. At 12 months, postoperative angiography demonstrated robust neovascularization, and the child has not sustained any further ischemic events. The authors discuss concept of vascular malformation-related hypoperfusion and the utility of indirect revascularization for inoperable vascular malformations presenting with ischemic symptoms.

  16. A novel approach to the management of critically ill neonatal Ebstein's anomaly: Veno-venous extracorporeal membrane oxygenation to promote right ventricular recovery.

    PubMed

    Bauser-Heaton, Holly; Nguyen, Charles; Tacy, Theresa; Axelrod, David

    2015-01-01

    This is the first report of the use of veno-venous extracorporeal membrane oxygenation in a neonate with severe Ebstein's anomaly. The report suggests the use of veno-venous extracorporeal membrane oxygenation in the immediate neonatal period may be a useful therapy in severe Ebstein's anomaly. By providing adequate oxygenation independent of the patient's native pulmonary blood flow, veno-venous extracorporeal membrane oxygenation allows the pulmonary vascular resistance to decrease and may promote right ventricular recovery.

  17. [Vascularization of hepatoceliular carcinoma].

    PubMed

    Tumanova, U N; Shchegolev, A I

    2015-01-01

    The paper gives the data available in the literature on vascularization of hepatocellular carcinoma (HCC). Sinusoidal capillarization and unpaired arteries are shown to play an important role in the development and progression of HCC. The density of microvessels detected by immunohistochemical techniques is a morphological indicator of the degree of angiogenic processes. Higher-grade HCC is followed by changes in its vascularization and concurrent with a progressive increase in the proportion of blood entering along the hepatic artery. The morphological indicators of microvessel density are recommended to use as addi- tional criteria for determining the prognosis of the disease, designing targeted anti-angiogenic drugs, and evaluating the efficiency of performed therapy.

  18. Harnessing developmental processes for vascular engineering and regeneration.

    PubMed

    Park, Kyung Min; Gerecht, Sharon

    2014-07-01

    The formation of vasculature is essential for tissue maintenance and regeneration. During development, the vasculature forms via the dual processes of vasculogenesis and angiogenesis, and is regulated at multiple levels: from transcriptional hierarchies and protein interactions to inputs from the extracellular environment. Understanding how vascular formation is coordinated in vivo can offer valuable insights into engineering approaches for therapeutic vascularization and angiogenesis, whether by creating new vasculature in vitro or by stimulating neovascularization in vivo. In this Review, we will discuss how the process of vascular development can be used to guide approaches to engineering vasculature. Specifically, we will focus on some of the recently reported approaches to stimulate therapeutic angiogenesis by recreating the embryonic vascular microenvironment using biomaterials for vascular engineering and regeneration.

  19. Diverse imaging characteristics of a mandibular intraosseous vascular lesion.

    PubMed

    Handa, Hina; Naidu, Giridhar S; Dara, Balaji Gandhi Babu; Deshpande, Ashwini; Raghavendra, Raju

    2014-03-01

    Intraosseous vascular lesions of the maxillofacial region are rare, and the differential diagnosis of intraosseous vascular malformations from other jaw lesions can be challenging. In the present case, magnetic resonance imaging and three-dimensional computed tomographic angiography (CTA) was used for diagnosis, and the lesion was treated wih surgical excision. Diverse characteristics such as the "honeycomb" and "sunburst" radiographic appearances and the absence of major peripheral feeder vessels in the CTA were noted. Intraosseous vascular malformations have a varied radiographic appearance, and the nomenclature of these lesions is equally diverse, with several overlapping terms. Pathologists do not generally differentiate among intraosseous vascular lesions on the basis of histopathology, although these lesions may present with contrasting immunohistochemical and clinical behaviors requiring varied treatment strategies. This case report highlights the need for multiple imaging modalities to differentiate among vascular lesions, as well as to better understand the behaviors of these unique lesions.

  20. Harnessing developmental processes for vascular engineering and regeneration

    PubMed Central

    Park, Kyung Min; Gerecht, Sharon

    2014-01-01

    The formation of vasculature is essential for tissue maintenance and regeneration. During development, the vasculature forms via the dual processes of vasculogenesis and angiogenesis, and is regulated at multiple levels: from transcriptional hierarchies and protein interactions to inputs from the extracellular environment. Understanding how vascular formation is coordinated in vivo can offer valuable insights into engineering approaches for therapeutic vascularization and angiogenesis, whether by creating new vasculature in vitro or by stimulating neovascularization in vivo. In this Review, we will discuss how the process of vascular development can be used to guide approaches to engineering vasculature. Specifically, we will focus on some of the recently reported approaches to stimulate therapeutic angiogenesis by recreating the embryonic vascular microenvironment using biomaterials for vascular engineering and regeneration. PMID:25005471

  1. Uhl's anomaly: a difficult prenatal diagnosis.

    PubMed

    Vaujois, Laurence; van Doesburg, Nicolaas; Raboisson, Marie-Josée

    2015-03-01

    Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise.

  2. Sources of Near Side Lunar Magnetic Anomalies

    NASA Technical Reports Server (NTRS)

    Richmond, Nicola C.; Hood, Lon L.; Halekas, J. S.; Mitchell, D. L.; Lin, R. P.; Acuna, M. H.; Binder, A.B.

    2002-01-01

    Lunar Prospector magnetometer data has been used to identify a number of nearside magnetic anomalies. Some of the features identified appear to correlate with impact ejecta, supporting a basin ejecta origin to the nearside anomalies. Additional information is contained in the original extended abstract.

  3. Anomalies of Nuclear Criticality, Revision 6

    SciTech Connect

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

    2010-02-19

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

  4. Magnitude Anomalies and Propagation of Local Phases

    DTIC Science & Technology

    1983-01-31

    statistically significant variation of magnitude anomalies versus one of this above parameters. A contrario, we observed a significant dependance between...enough to demand a more detailed analysis. III - Local dependance of magnitude anomalies. A smoothing of our data on all quakes originating in the same

  5. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

  6. Regional magnetic anomaly constraints on continental rifting

    NASA Technical Reports Server (NTRS)

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

    1985-01-01

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

  7. A Comparative Evaluation of Unsupervised Anomaly Detection Algorithms for Multivariate Data

    PubMed Central

    Goldstein, Markus; Uchida, Seiichi

    2016-01-01

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

  8. Congenital renal anomalies detected in adulthood

    PubMed Central

    Muttarak, M; Sriburi, T

    2012-01-01

    Objective To document the types of congenital renal anomalies detected in adulthood, the clinical presentation and complications of these renal anomalies, and the most useful imaging modality in detecting a renal anomaly. Materials and methods This study was approved by the institutional review board and informed consent was waived. Between January 2007 and January 2011, the clinical data and imaging studies of 28 patients older than 18 years diagnosed with renal anomaly at the authors’ institution were retrospectively reviewed. Renal anomalies in this study included only those with abnormality in position and in form. Results Of these 28 patients, 22 underwent imaging studies and their results constituted the material of this study. Of the 22 patients, 14 had horseshoe kidneys (HSK), four had crossed renal ectopia and four had malrotation. Sixteen patients were men and six were women. The patients ranged in age from 19 to 74 years (mean age 51.1 years). Clinical presentations were abdominal pain (13), fever (13), haematuria (4), palpable mass (2), asymptomatic (2), polyuria (1) dysuria (1), blurred vision (1), and headache with weakness of left extremities (1). Imaging studies included abdominal radiograph (15), intravenous pyelography (IVP) (8), retrograde pyelography (RP) (4), ultrasonography (US) (7), and computed tomography (CT) (9). Associated complications included urinary tract stones (17), urinary tract infection (16), hydronephrosis (12), and tumours (2). Abdominal radiograph suggested renal anomalies in nine out of 15 studies. IVP, RP, US and CT suggested anomalies in all patients who had these studies performed. However, CT was the best imaging modality to evaluate anatomy, function and complications of patients with renal anomalies. Conclusion HSK was the most common renal anomaly, with abdominal pain and fever being the most common presentations. UTI and stones were the most common complications. IVP, RP, US and CT can be used to diagnose renal

  9. Anomaly Detection in Dynamic Networks

    SciTech Connect

    Turcotte, Melissa

    2014-10-14

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

  10. Addressing the Challenges of Anomaly Detection for Cyber Physical Energy Grid Systems

    SciTech Connect

    Ferragut, Erik M; Laska, Jason A; Melin, Alexander M; Czejdo, Bogdan

    2013-01-01

    The consolidation of cyber communications networks and physical control systems within the energy smart grid introduces a number of new risks. Unfortunately, these risks are largely unknown and poorly understood, yet include very high impact losses from attack and component failures. One important aspect of risk management is the detection of anomalies and changes. However, anomaly detection within cyber security remains a difficult, open problem, with special challenges in dealing with false alert rates and heterogeneous data. Furthermore, the integration of cyber and physical dynamics is often intractable. And, because of their broad scope, energy grid cyber-physical systems must be analyzed at multiple scales, from individual components, up to network level dynamics. We describe an improved approach to anomaly detection that combines three important aspects. First, system dynamics are modeled using a reduced order model for greater computational tractability. Second, a probabilistic and principled approach to anomaly detection is adopted that allows for regulation of false alerts and comparison of anomalies across heterogeneous data sources. Third, a hierarchy of aggregations are constructed to support interactive and automated analyses of anomalies at multiple scales.

  11. Heart and vascular services

    MedlinePlus

    ... MedlinePlus GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Heart and vascular services URL of this page: //medlineplus.gov/ency/article/ ...

  12. OBESITY AND VASCULAR DYSFUNCTION

    PubMed Central

    Stapleton, Phoebe A.; James, Milinda E.; Goodwill, Adam G.; Frisbee, Jefferson C.

    2008-01-01

    One of the most profound challenges facing public health and public health policy in Western society is the increased incidence and prevalence of both overweight and obesity. While this condition can have significant consequences for patient mortality and quality of life, it can be further exacerbated as overweight/obesity can be a powerful stimulus for the development of additional risk factors for a negative cardiovascular outcome, including increased insulin resistance, dyslipidemia and hypertension. This manuscript will present the effects of systemic obesity on broad issues of vascular function in both afflicted human populations and in the most relevant animal models. Among the topics that will be covered are alterations to vascular reactivity (both dilator and constrictor responses), adaptations in microvascular network and vessel wall structure, and alterations to the patterns of tissue/organ perfusion as a result of the progression of the obese condition. Additionally, special attention will be paid to the contribution of chronic inflammation as a contributor to alterations in vascular function, as well as the role of perivascular adipose tissue in terms of impacting vessel behavior. When taken together, it is clearly apparent that the development of the obese condition can have profound, and frequently difficult to predict, impacts on integrated vascular function. Much of this complexity appears to have its basis in the extent to which other co-morbidities associated with obesity (e.g., insulin resistance) are present and exert contributing effects. PMID:18571908

  13. Nonthrombogenic polymer vascular prosthesis.

    PubMed

    Nojiri, C; Senshu, K; Okano, T

    1995-01-01

    Although many synthetic vascular grafts have been developed and evaluated experimentally or clinically, none of them have met long-term patency when applied as a small diameter vascular substitute. We have recently developed a small caliber vascular graft (3 mm i.d.) using a nonthrombogenic polymer coating. The graft consists of three layered structures: Dacron for the outer layer, polyurethane in the middle layer, and a HEMA/styrene block copolymer (HEMA-st) coating for the inner layer. HEMA-st is an amphiphilic block copolymer composed of 2-hydroxyethyl methacrylate and styrene which has demonstrated improved blood compatibility over existing biomedical polymers in both in vitro and ex vivo experiments. Ten grafts were evaluated in a dog bilateral carotid replacement model. The grafts were electively retrieved at 7, 14, 30, 92, and 372 days after implantation. All grafts were patent without detectable thrombi along the graft length including anastomotic sites. Scanning electron micrographs of retrieved graft lumen showed fairly clean surfaces covered with a homogenous protein-like layer without microthrombi or endothelial cell lining. The thickness of the surface protein layer measured by a transmission electron microscopy was what can be described as monolayer protein adsorption regardless of implantation periods of as much as 372 days. A stable monolayer adsorbed protein layer formed on HEMA-st surfaces demonstrated nonthrombogenic activities in vivo and secure long-term patency of small caliber vascular grafts with the absence of an endothelial cell lining.

  14. Amputation in vascular disease.

    PubMed Central

    Robinson, K.

    1980-01-01

    The management of vascular amputees in the Roehampton Limb Surgery Unit since its opening in 1975 is outlined and the results in 167 cases presented. Of the 35 patients over the age of 80, 57% were walking independently at the time of their discharge from the unit. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:7377693

  15. Vascular wall extracellular matrix proteins and vascular diseases

    PubMed Central

    Xu, Junyan; Shi, Guo-Ping

    2014-01-01

    Extracellular matrix proteins form the basic structure of blood vessels. Along with providing basic structural support to blood vessels, matrix proteins interact with different sets of vascular cells via cell surface integrin or non-integrin receptors. Such interactions induce vascular cell de novo synthesis of new matrix proteins during blood vessel development or remodeling. Under pathological conditions, vascular matrix proteins undergo proteolytic processing, yielding bioactive fragments to influence vascular wall matrix remodeling. Vascular cells also produce alternatively spliced variants that induce vascular cell production of different matrix proteins to interrupt matrix homeostasis, leading to increased blood vessel stiffness; vascular cell migration, proliferation, or death; or vascular wall leakage and rupture. Destruction of vascular matrix proteins leads to vascular cell or blood-borne leukocyte accumulation, proliferation, and neointima formation within the vascular wall; blood vessels prone to uncontrolled enlargement during blood flow diastole; tortuous vein development; and neovascularization from existing pathological tissue microvessels. Here we summarize discoveries related to blood vessel matrix proteins within the past decade from basic and clinical studies in humans and animals — from expression to cross-linking, assembly, and degradation under physiological and vascular pathological conditions, including atherosclerosis, aortic aneurysms, varicose veins, and hypertension. PMID:25045854

  16. Congenital Vascular Malformations of the Liver: An Association With Trisomy 21.

    PubMed

    Burdall, Oliver C; Grammatikopoulos, Tassos; Sellars, Maria; Hadzic, Nedim; Davenport, Mark

    2016-12-01

    A link between congenital vascular malformation (CVM) of the liver and trisomy 21 has been suggested. We reviewed all children with trisomy 21 referred for investigation to a specialist pediatric hepatobiliary unit (1985-2015). Forty-five children with trisomy 21 were identified; 7 (15%) had a defined CVMs (4 girls). All such infants were also diagnosed with a range of cardiac defects. CVMs were divided according to the nature of the vascular connection. Group (i) (n = 3): Abnormal venovenous anomaly. This included portocaval shunt and patent ductus venosus (n = 2). Group (ii) (n = 4): Involvement of all 3 vascular systems. Two infants had arterioportal hypertension caused by hepatic arteries feeding into a left portal vein aneurysm within the umbilical fissure. Two infants had more complex hepatic artery to hepatic vein shunts developing early cardiorespiratory failure with progressive jaundice. Our series shows a clear association between cardiac anomalies and CVM in children with trisomy 21.

  17. Weather anomalies affect Climate Change microblogging intensity

    NASA Astrophysics Data System (ADS)

    Molodtsova, T.; Kirilenko, A.

    2012-12-01

    There is a huge gap between the scientific consensus and public understanding of climate change. Climate change has become a political issue and a "hot" topic in mass media that only adds the complexity to forming the public opinion. Scientists operate in scientific terms, not necessarily understandable by general public, while it is common for people to perceive the latest weather anomaly as an evidence of climate change. In 1998 Hansen et al. introduced a concept of an objectively measured subjective climate change indicator, which can relate public feeling that the climate is changing to the observed meteorological parameters. We tested this concept in a simple example of a temperature-based index, which we related to microblogging activity. Microblogging is a new form of communication in which the users describe their current status in short Internet messages. Twitter (http://twitter.com), is currently the most popular microblogging platform. There are multiple reasons, why this data is particularly valuable to the researches interested in social dynamics: microblogging is widely used to publicize one's opinion with the public; has broad, diverse audience, represented by users from many countries speaking different languages; finally, Twitter contains an enormous number of data, e.g., there were 1,284,579 messages related to climate change from 585,168 users in the January-May data collection. We collected the textual data entries, containing words "climate change" or "global warming" from the 1st of January, 2012. The data was retrieved from the Internet every 20 minutes using a specially developed Python code. Using geolocational information, blog entries originating from the New York urbanized area were selected. These entries, used as a source of public opinion on climate change, were related to the surface temperature, obtained from La Guardia airport meteorological station. We defined the "significant change" in the temperature index as deviation of the

  18. Advances in Vascular Hyporeactivity After Shock: The Mechanisms and Managements.

    PubMed

    Duan, Chenyang; Yang, Guangming; Li, Tao; Liu, Liangming

    2015-12-01

    Vascular reactivity to vasoconstrictors and vasodilators is greatly reduced after severe trauma, shock, and sepsis or multiple organ dysfunction syndrome. This reduced vascular reactivity severely interferes with the treatment of shock and other critical conditions. In particular, it interferes with the efficacy of vasoactive agents. Consequently, it is very important to elucidate the mechanisms and search for the effective treatment measures. In recent years, a lot of studies focused on the characteristics and the change rules of vascular hyporeactivity and mechanisms following shock. Also, the treatment approaches based on various mechanisms have been a hot pot these years.

  19. Data Mining for Anomaly Detection

    NASA Technical Reports Server (NTRS)

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

    2013-01-01

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

  20. Collie Eye Anomaly in Switzerland.

    PubMed

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

    2009-12-01

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

  1. Carbon monoxide and bile pigments: surprising mediators of vascular function.

    PubMed

    Durante, William

    2002-08-01

    Heme oxygenase (HO) catalyzes the degradation of heme to CO, iron, and biliverdin. Biliverdin is subsequently metabolized to bilirubin by the enzyme biliverdin reductase. Although long considered irrelevant byproducts of heme catabolism, recent studies indicate that CO and the bile pigments biliverdin and bilirubin may play an important physiological role in the circulation. The release of CO by vascular cells may modulate blood flow and blood fluidity by inhibiting vasomotor tone, smooth muscle cell proliferation, and platelet aggregation. CO may also maintain the integrity of the vessel wall by directly blocking vascular cell apoptosis and by inhibiting the release of pro-apoptotic inflammatory cytokines from the vessel wall. These effects of CO are mediated via multiple pathways, including activation of soluble guanylate cyclase, potassium channels, p38 mitogen-activated protein kinase, or inhibition of cytochrome P450. In addition, the release of bile pigments may serve to sustain vascular homeostasis by protecting vascular cells from oxidative stress and by inhibiting the adhesion and infiltration of leukocytes into the vessel wall. Induction of HO-1 gene expression and the subsequent release of CO and bile pigments are observed in numerous vascular disorders and may provide an important adaptive mechanism to preserve homeostasis at sites of vascular injury. Thus, the HO-catalyzed formation of CO and bile pigments by vascular cells may function as a critical endogenous vasoprotective system. Moreover, pharmacological or genetic approaches targeting HO-1 to the vessel wall may represent a novel therapeutic approach in treating vascular disease.

  2. Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

    PubMed Central

    Julian-Reynier, C; Philip, N; Scheiner, C; Aurran, Y; Chabal, F; Maron, A; Gombert, A; Aymé, S

    1994-01-01

    STUDY OBJECTIVE--The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN--This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as isolated and multiple anomalies; chromosomal anomalies were not included. The prevalence rates of congenital anomalies at birth were determined from case registration data in the Marseille district, France, from the registry of congenital malformations (Eurocat no 22), which covers 23,500 births a year. The chi 2 test for homogeneity in proportions was used to test whether the differences in the total prevalence rates were significant over time. SETTING--The population was defined as all children born to parents living in the Marseille district between January 1 1984 and December 31 1990. PATIENTS--Among the 164,509 pregnancy outcomes monitored during the study, 1795 children with a single congenital anomaly and 288 with multiple congenital anomalies detectable at birth were assessed. MEASUREMENTS AND MAIN RESULTS--The percentage of pregnancy terminations was higher in the case of multiple anomalies (16%) than with single ones (7.5%). Leaving aside the lethal birth defects, this percentage became 7.9% in the case of multiple anomalies and 4.3% with isolated ones. A significant increase (p < 0.001) occurred over the seven year study period in the total percentage of terminations because of isolated anomalies but not in that involving multiple ones. The increase observed in the former case was found to be mainly attributable to an increase in the number of terminations of pregnancy undertaken because of anomalies which were either lethal or associated with very low survival rates (p < 0.001). CONCLUSIONS--Termination of pregnancy after prenatal ultrasound examination was found to have a definite impact on the prevalence

  3. Vascular imaging in the elderly.

    PubMed

    Kalva, Sanjeeva P; Mueller, Peter R

    2008-07-01

    Though a myriad of vascular conditions affect the elderly, atherosclerosis remains the most common vascular disorder, followed by venous thromboembolism and varicose veins. In this article, the authors discuss the imaging of atherosclerosis affecting various vascular territories and pay special attention to the elderly population. The authors also discuss imaging findings of segmental arterial mediolysis, giant cell arteritis, and venous thromboembolism.

  4. Congenital basis of posterior fossa anomalies

    PubMed Central

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

    2015-01-01

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

  5. Thermal infrared anomalies of several strong earthquakes.

    PubMed

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

    2013-01-01

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

  6. Congenital hand anomalies in Upper Egypt

    PubMed Central

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

    2016-01-01

    Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome. PMID:27833283

  7. Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies

    PubMed Central

    Donnelly, Jennifer C; Platt, Lawrence D; Rebarber, Andrei; Zachary, Julia; Grobman, William A; Wapner, Ronald J

    2014-01-01

    Objective To evaluate the association of other-than-common benign copy number variants with specific fetal abnormalities detected by ultrasonogram. Methods Fetuses with structural anomalies were compared to fetuses without detected abnormalities for the frequency of other-than-common benign copy number variants. This is a secondary analysis from the previously published National Institute of Child Health and Human Development microarray trial. Ultrasound reports were reviewed and details of structural anomalies were entered into a nonhierarchical web-based database. The frequency of other-than-common benign copy number variants (ie, either pathogenic or variants of uncertain significance) not detected by karyotype was calculated for each anomaly in isolation and in the presence of other anomalies and compared to the frequency in fetuses without detected abnormalities. Results Of 1,082 fetuses with anomalies detected on ultrasound, 752 had a normal karyotype. Other-than-common benign copy number variants were present in 61 (8.1%) of these euploid fetuses. Fetuses with anomalies in more than one system had a 13.0% frequency of other-than-common benign copy number variants, which was significantly higher (p<0.001) than the frequency (3.6%) in fetuses without anomalies (n = 1966). Specific organ systems in which isolated anomalies were nominally significantly associated with other-than-common benign copy number variants were the renal (p= 0.036) and cardiac systems (p=0.012) but did not meet the adjustment for multiple comparisons. Conclusions When a fetal anomaly is detected on ultrasonogram, chromosomal microarray offers additional information over karyotype, the degree of which depends on the organ system involved. PMID:24901266

  8. The Vascular Depression Hypothesis: Mechanisms Linking Vascular Disease with Depression

    PubMed Central

    Taylor, Warren D.; Aizenstein, Howard J.; Alexopoulos, George S.

    2013-01-01

    The ‘Vascular Depression’ hypothesis posits that cerebrovascular disease may predispose, precipitate, or perpetuate some geriatric depressive syndromes. This hypothesis stimulated much research that has improved our understanding of the complex relationships between late-life depression (LLD), vascular risk factors, and cognition. Succinctly, there are well-established relationships between late-life depression, vascular risk factors, and cerebral hyperintensities, the radiological hallmark of vascular depression. Cognitive dysfunction is common in late-life depression, particularly executive dysfunction, a finding predictive of poor antidepressant response. Over time, progression of hyperintensities and cognitive deficits predicts a poor course of depression and may reflect underlying worsening of vascular disease. This work laid the foundation for examining the mechanisms by which vascular disease influences brain circuits and influences the development and course of depression. We review data testing the vascular depression hypothesis with a focus on identifying potential underlying vascular mechanisms. We propose a disconnection hypothesis, wherein focal vascular damage and white matter lesion location is a crucial factor influencing neural connectivity that contributes to clinical symptomatology. We also propose inflammatory and hypoperfusion hypotheses, concepts that link underlying vascular processes with adverse effects on brain function that influence the development of depression. Testing such hypotheses will not only inform the relationship between vascular disease and depression but also provide guidance on the potential repurposing of pharmacological agents that may improve late-life depression outcomes. PMID:23439482

  9. Aspirin for vascular dementia

    PubMed Central

    Rands, Gianetta; Orrell, Martin

    2014-01-01

    Background Aspirin is widely prescribed for patients with a diagnosis of vascular dementia. In a survey of UK geriatricians and psychiatrists 80% of patients with clinical diagnoses of vascular dementia were prescribed aspirin. However, a number of queries remain unanswered. Is there convincing evidence that aspirin benefits patients with vascular dementia? Does aspirin affect cognition and behaviour, or improve prognosis? Does the risk of cerebral or gastric haemorrhage outweigh any benefit? Objectives To assess the randomised trial evidence for efficacy and safety of aspirin in the treatment of vascular dementia. Search methods We searched ALOIS: the Cochrane Dementia and Cognitive Improvement Group’s Specialized Register on 12 March 2012 using the terms: aspirin OR “acetylsalicylic acid”. ALOIS contains records of clinical trials identified from monthly searches of a number of major healthcare databases, numerous trial registries and grey literature sources. In addition, relevant websites were searched and some journals were handsearched. Specialists in the field were approached for unpublished material and any publications found were searched for additional references. Selection criteria Randomised controlled trials investigating the effect of aspirin for vascular dementia were eligible for inclusion. Data collection and analysis Retrieved studies were analysed independently by both review authors. Methodology and results were critically appraised and outcomes scanned included cognition, behavioural change, mortality and institutionalisation. Main results No trials were eligible for inclusion in this review. Authors’ conclusions The most recent search for references to relevant research was carried out in March 2012. No trials were found for inclusion in this systematic review. Low-dose aspirin is frequently used as ‘treatment as normal’ in control groups and as a baseline treatment in pharmacological trials. There is still no good evidence that

  10. Association of miRNA-145 expression in vascular smooth muscle cells with vascular damages in patients with lupus nephritis.

    PubMed

    Ding, Yan; Liao, Wang; Yi, Zhuwen; Xiang, Wei; He, Xiaojie

    2015-01-01

    miRNAs have been found to contribute to the regulation of multiple cellular processes, including cell apoptosis, differentiation and proliferation. The patients with lupus nephritis (LN) exhibit thickened renal vascular membrane and highly proliferative vascular smooth muscle cells (VSMCs). Of various miRNAs discovered, miR-145 is essential to mediate the proliferation of VSMCs and the formation of atherosclerotic plaques. In this study, we studied the pathological and vascular damage of renal LN, and the correlation between miR-145 expression in VSMCs and the vascular damages. Serum, urine, and renal biopsies were obtained from 41 patients with active LN. The serum and urinary VEGF levels were examined to confirm the renal damage of each patient. Biopsies were stained to observe the glomerular segmental lesions, sclerosis, and to evaluate the vascular damages. The expression of miR-145 was also examined to determine the correlation between its expression and the vascular damages. The expression of miR-145 was mainly detected in the renal VSMCs and the epithelial cells of glomerular proximal convoluted tubule. Nevertheless, the expression of miR-145 reduced as the tunicae media vasorum ratios increased, indicating the development of LN inhibits the expression of miR-145. Furthermore, our studies revealed no significant correlation among renal interstitial vascular damage, glomerular damage and severity classification of LN. Therefore, we suggest the damage of renal interstitial vascular should be considered as one of the factors to evaluate the severity of the LN.

  11. Magnetic and gravity anomalies in the Americas

    NASA Technical Reports Server (NTRS)

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

    1981-01-01

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

  12. Chromium isotopic anomalies in the Allende meteorite

    NASA Technical Reports Server (NTRS)

    Papanastassiou, D. A.

    1986-01-01

    Abundances of the chromium isotopes in terrestrial and bulk meteorite samples are identical to 0.01 percent. However, Ca-Al-rich inclusions from the Allende meteorite show endemic isotopic anomalies in chromium which require at least three nucleosynthetic components. Large anomalies at Cr-54 in a special class of inclusions are correlated with large anomalies at Ca-48 and Ti-50 and provide strong support for a component reflecting neutron-rich nucleosynthesis at nuclear statistical equilibrium. This correlation suggests that materials from very near the core of an exploding massive star may be injected into the interstellar medium.

  13. Recent Advances in Ionospheric Anomalies detection

    NASA Astrophysics Data System (ADS)

    Titov, Anton; Vyacheslav, Khattatov

    2016-07-01

    The variability of the parameters of the ionosphere and ionospheric anomalies are the subject of intensive research. It is widely known and studied in the literature ionospheric disturbances caused by solar activity, the passage of the terminator, artificial heating of high-latitude ionosphere, as well as seismic events. Each of the above types of anomalies is the subject of study and analysis. Analysis of these anomalies will provide an opportunity to improve our understanding of the mechanisms of ionospheric disturbances. To solve this problem are encouraged to develop a method of modeling the ionosphere, based on the assimilation of large amounts of observational data.

  14. Non-standard symmetries and quantum anomalies

    SciTech Connect

    Visinescu, Anca; Visinescu, Mihai

    2008-08-31

    Quantum anomalies are investigated on curved spacetimes. The intimate relation between Killing-Yano tensors and non-standard symmetries is pointed out. The gravitational anomalies are absent if the hidden symmetry is associated to a Killing-Yano tensor. The axial anomaly in a background gravitational field is directly related with the index of the Dirac operator. In the Dirac theory on curved spaces, Killing-Yano tensors generate Dirac-type operators involved in interesting algebraic structures. The general results are applied to the 4-dimensional Euclidean Taub-NUT space.

  15. CloudSat Anomaly Recovery and Operational Lessons Learned

    NASA Technical Reports Server (NTRS)

    Witkowski, Mona; Vane, Deborah; Livermore, Thomas; Rokey, Mark; Barthuli, Marda; Gravseth, Ian J.; Pieper, Brian; Rodzinak, Aaron; Silva, Steve; Woznick, Paul; Nayak, Michael

    2012-01-01

    In April 2011, NASA's pioneering cloud profiling radar satellite, CloudSat, experienced a battery anomaly that placed it into emergency mode and rendered it operations incapable. All initial attempts to recover the spacecraft failed as the resultant power limitations could not support even the lowest power mode. Originally part of a six-satellite constellation known as the "A-Train", CloudSat was unable to stay within its assigned control box, posing a threat to other A-Train satellites. CloudSat needed to exit the constellation, but with the tenuous power profile, conducting maneuvers was very risky. The team was able to execute a complex sequence of operations which recovered control, conducted an orbit lower maneuver, and returned the satellite to safe mode, within one 65 minute sunlit period. During the course of the anomaly recovery, the team developed several bold, innovative operational strategies. Details of the investigation into the root-cause and the multiple approaches to revive CloudSat are examined. Satellite communication and commanding during the anomaly are presented. A radical new system of "Daylight Only Operations" (DO-OP) was developed, which cycles the payload and subsystem components off in tune with earth eclipse entry and exit in order to maintain positive power and thermal profiles. The scientific methodology and operational results behind the graduated testing and ramp-up to DO-OP are analyzed. In November 2011, the CloudSat team successfully restored the vehicle to consistent operational collection of cloud radar data during sunlit portions of the orbit. Lessons learned throughout the six-month return-to-operations recovery effort are discussed and offered for application to other R&D satellites, in the context of on-orbit anomaly resolution efforts.

  16. Protein Kinase C Inhibitors as Modulators of Vascular Function and Their Application in Vascular Disease

    PubMed Central

    Khalil, Raouf A.

    2013-01-01

    Blood pressure (BP) is regulated by multiple neuronal, hormonal, renal and vascular control mechanisms. Changes in signaling mechanisms in the endothelium, vascular smooth muscle (VSM) and extracellular matrix cause alterations in vascular tone and blood vessel remodeling and may lead to persistent increases in vascular resistance and hypertension (HTN). In VSM, activation of surface receptors by vasoconstrictor stimuli causes an increase in intracellular free Ca2+ concentration ([Ca2+]i), which forms a complex with calmodulin, activates myosin light chain (MLC) kinase and leads to MLC phosphorylation, actin-myosin interaction and VSM contraction. Vasoconstrictor agonists could also increase the production of diacylglycerol which activates protein kinase C (PKC). PKC is a family of Ca2+-dependent and Ca2+-independent isozymes that have different distributions in various blood vessels, and undergo translocation from the cytosol to the plasma membrane, cytoskeleton or the nucleus during cell activation. In VSM, PKC translocation to the cell surface may trigger a cascade of biochemical events leading to activation of mitogen-activated protein kinase (MAPK) and MAPK kinase (MEK), a pathway that ultimately increases the myofilament force sensitivity to [Ca2+]i, and enhances actin-myosin interaction and VSM contraction. PKC translocation to the nucleus may induce transactivation of various genes and promote VSM growth and proliferation. PKC could also affect endothelium-derived relaxing and contracting factors as well as matrix metalloproteinases (MMPs) in the extracellular matrix further affecting vascular reactivity and remodeling. In addition to vasoactive factors, reactive oxygen species, inflammatory cytokines and other metabolic factors could affect PKC activity. Increased PKC expression and activity have been observed in vascular disease and in certain forms of experimental and human HTN. Targeting of vascular PKC using PKC inhibitors may function in concert with

  17. Congenital anomalies of the inner ear: introducing a new classification of labyrinthine anomalies.

    PubMed

    Suehiro, S; Sando, I

    1979-01-01

    In a literature review of 108 articles a special effort was made to find and classify inner ear anomalies and diseases associated with inner ear anomalies. This study showed the following. Most of the diseases associated with inner ear anomalies are also associated with anomalies in other parts of the body. Hereditary characteristics comprise the most common etiological factor among the diseases associated with inner ear anomalies. Among anomalies observed in the cochlea, the vestibule, and the semicircular canals, anomalies in the cochlea are most frequently associated with various diseases and were observed in 30 of 40 diseases. Anomalies of the vestibule were observed in 25 diseases, and those of the semicircular canals in 18 diseases. Anomalies in both the osseous and the membranous labyrinth were most frequently associated with the diseases studied, as they were observed to occur with 10 of the 43 diseases. In this paper a new classification system for labyrinthine anomalies is introduced, based on this study of the literature.

  18. The protective role of Sirt1 in vascular tissue: its relationship to vascular aging and atherosclerosis

    PubMed Central

    Kitada, Munehiro; Ogura, Yoshio; Koya, Daisuke

    2016-01-01

    Cardiovascular disease (CVD) due to atherosclerosis is the main cause of death in both the elderly and patients with metabolic diseases, including diabetes. Aging processes contribute to the pathogenesis of atherosclerosis. Calorie restriction (CR) is recognized as a dietary intervention for promoting longevity and delaying age-related diseases, including atherosclerosis. Sirt1, an NAD+-dependent deacetylase, is considered an anti-aging molecule and is induced during CR. Sirt1 deacetylates target proteins and is linked to cellular metabolism, the redox state and survival pathways. Sirt1 expression/activation is decreased in vascular tissue undergoing senescence. Sirt1 deficiency in endothelial cells (ECs), vascular smooth muscle cells (VSMCs) and monocytes/macrophages contributes to increased oxidative stress, inflammation, foam cell formation, senescences impaired nitric oxide production and autophagy, thereby promoting vascular aging and atherosclerosis. Endothelial dysfunction, activation of monocytes/macrophages, and the functional and phenotypical plasticity of VSMCs are critically implicated in the pathogenesis of atherosclerosis through multiple mechanisms. Therefore, the activation of Sirt1 in vascular tissue, which includes ECs, monocytes/macrophages and VSMCs, may be a new therapeutic strategy against atherosclerosis and the increasing resistance to the metabolic disorder-related causal factors of CVD. In this review, we discuss the protective role of Sirt1 in the pathophysiology of vascular aging and atherosclerosis. PMID:27744418

  19. Brain Vascular Imaging Techniques

    PubMed Central

    Laviña, Bàrbara

    2016-01-01

    Recent major improvements in a number of imaging techniques now allow for the study of the brain in ways that could not be considered previously. Researchers today have well-developed tools to specifically examine the dynamic nature of the blood vessels in the brain during development and adulthood; as well as to observe the vascular responses in disease situations in vivo. This review offers a concise summary and brief historical reference of different imaging techniques and how these tools can be applied to study the brain vasculature and the blood-brain barrier integrity in both healthy and disease states. Moreover, it offers an overview on available transgenic animal models to study vascular biology and a description of useful online brain atlases. PMID:28042833

  20. Pelvic Vascular Malformations

    PubMed Central

    Christenson, Brian M.; Gipson, Matthew G.; Smith, Mitchell T.

    2013-01-01

    Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults. Since treatment strategy depends on the type of malformation, correct diagnosis and classification of a vascular lesion are crucial. Slow-flow VMs (venous and lymphatic malformations) are often treated by sclerotherapy, whereas fast-flow lesions (arteriovenous malformations) are generally managed with embolization. In addition, some cases of VMs are best treated surgically. This review will present an overview of VMs in the female pelvis as well as a discussion of endovascular therapeutic techniques. PMID:24436563

  1. Vascular trauma historical notes.

    PubMed

    Rich, Norman M

    2011-03-01

    This article provides a brief historical review of treatment of vascular trauma. Although methods for ligation came into use in the second century, this knowledge was lost during the Dark Ages and did not come back until the Renaissance. Many advances in vascular surgery occurred during the Balkan Wars, World War I, and World War II, although without antibiotics and blood banking, the philosophy of life over limb still ruled. Documenting and repairing both arteries and veins became more common during the Korean and Vietnam conflicts. Increased documentation has revealed that the current conflicts have resulted in more arterial injuries than in previous wars, likely because of improved body armor, improvised explosive device attacks, tourniquet use, and improved medical evacuation time. This brief review emphasizes the great value of mentorship and the legacy of the management of arterial and venous injuries to be passed on.

  2. [Vascular endothelial Barrier Function].

    PubMed

    Ivanov, A N; Puchinyan, D M; Norkin, I A

    2015-01-01

    Endothelium is an important regulator of selective permeability of the vascular wall for different molecules and cells. This review summarizes current data on endothelial barrier function. Endothelial glycocalyx structure, its function and role in the molecular transport and leukocytes migration across the endothelial barrier are discussed. The mechanisms of transcellular transport of macromolecules and cell migration through endothelial cells are reviewed. Special section of this article addresses the structure and function of tight and adherens endothelial junction, as well as their importance for the regulation of paracellular transport across the endothelial barrier. Particular attention is paid to the signaling mechanism of endothelial barrier function regulation and the factors that influence on the vascular permeability.

  3. Plant Vascular Biology 2010

    SciTech Connect

    Ding, Biao

    2014-11-17

    This grant supported the Second International Conference on Plant Vascular Biology (PVB 2010) held July 24-28, 2010 on the campus of Ohio State University, Columbus, Ohio. Biao Ding (Ohio State University; OSU) and David Hannapel (Iowa State University; ISU) served as co-chairs of this conference. Biao Ding served as the local organizer. PVB is defined broadly here to include studies on the biogenesis, structure and function of transport systems in plants, under conditions of normal plant growth and development as well as of plant interactions with pathogens. The transport systems cover broadly the xylem, phloem, plasmodesmata and vascular cell membranes. The PVB concept has emerged in recent years to emphasize the integrative nature of the transport systems and approaches to investigate them.

  4. Anaesthesia for vascular emergencies.

    PubMed

    Ellard, L; Djaiani, G

    2013-01-01

    Patients presenting with vascular emergencies including acute aortic syndrome, ruptured thoracic or abdominal aortic aneurysms, thoracic aortic trauma and acute lower limb ischaemia have a high risk of peri-operative morbidity and mortality. Although anatomical suitability is not universal, endovascular surgery may improve mortality and the results of ongoing randomised controlled trials are awaited. Permissive hypotension pre-operatively should be the standard of care with the systolic blood pressure kept to 50-100 mmHg as long as consciousness is maintained. The benefit of local anaesthesia over general anaesthesia is not definitive and this decision should be tailored for a given patient and circumstance. Cerebrospinal fluid drainage for prevention of paraplegia is often impractical in the emergency setting and is not backed by strong evidence; however, it should be considered postoperatively if symptoms develop. We discuss the pertinent anaesthetic issues when a patient presents with a vascular emergency and the impact that endovascular repair has on anaesthetic management.

  5. Vascular Cambium Development

    PubMed Central

    Nieminen, Kaisa; Blomster, Tiina; Helariutta, Ykä; Mähönen, Ari Pekka

    2015-01-01

    Secondary phloem and xylem tissues are produced through the activity of vascular cambium, the cylindrical secondary meristem which arises among the primary plant tissues. Most dicotyledonous species undergo secondary development, among them Arabidopsis. Despite its small size and herbaceous nature, Arabidopsis displays prominent secondary growth in several organs, including the root, hypocotyl and shoot. Together with the vast genetic resources and molecular research methods available for it, this has made Arabidopsis a versatile and accessible model organism for studying cambial development and wood formation. In this review, we discuss and compare the development and function of the vascular cambium in the Arabidopsis root, hypocotyl, and shoot. We describe the current understanding of the molecular regulation of vascular cambium and compare it to the function of primary meristems. We conclude with a look at the future prospects of cambium research, including opportunities provided by phenotyping and modelling approaches, complemented by studies of natural variation and comparative genetic studies in perennial and woody plant species. PMID:26078728

  6. Understanding Magnetic Anomalies and Their Significance.

    ERIC Educational Resources Information Center

    Shea, James H.

    1988-01-01

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

  7. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  8. Chemical Compositions and Anomalies in Stellar Coronae

    NASA Technical Reports Server (NTRS)

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

    2005-01-01

    In summary, as the papers cited here and in earlier reports demonstrate, this award has enabled us to obtain a fairly good picture of the abundance anomalies in stellar coronae. The "inverse FIP" effect in very active stars has now been fleshed out as a more complex anomaly depending on FIP, whereas before it appeared only in terms of a general metal paucity, the recent solar abundance assessment of Asplund et a1 will, if correct, challenge some of the older interpretations of coronal abundance anomalies since they imply quite different relative abundances of CNO compared with Fe, Mg and Si. Further investigations have been in into the possibility of modeling some of the recent coronal abundance anomaly results in terms of Alfven wave-driven separation of neutrals and ions in the upper chromosphere. This work still remains in the seed stage, and future funding from a different program will be requested to pursue it further.

  9. Reduction of satellite magnetic anomaly data

    NASA Technical Reports Server (NTRS)

    Slud, E. V.; Smith, P. J.; Langel, R. A.

    1984-01-01

    Analysis of global magnetic anomaly maps derived from satellite data is facilitated by inversion to the equivalent magnetization in a constant thickness magnetic crust or, equivalently, by reduction to the pole. Previous inversions have proven unstable near the geomagnetic equator. The instability results from magnetic moment distributions which are admissible in the inversion solution but which make only small contribution to the computed values of anomaly field. Their admissibility in the solution could result from noisy or incomplete data or from small poorly resolved anomalies. The resulting magnetic moments are unrealistically large and oscillatory. Application of the method of principal components (e.g. eigenvalue decomposition and selective elimination of less significant eigenvectors) is proposed as a way of overcoming the instability and the method is demonstrated by applying it to the region around the Bangui anomaly in Central Africa.

  10. Method of Mapping Anomalies in Homogenous Material

    NASA Technical Reports Server (NTRS)

    Woodard, Stanley E. (Inventor); Taylor, Bryant D. (Inventor)

    2016-01-01

    An electrical conductor and antenna are positioned in a fixed relationship to one another. Relative lateral movement is generated between the electrical conductor and a homogenous material while maintaining the electrical conductor at a fixed distance from the homogenous material. The antenna supplies a time-varying magnetic field that causes the electrical conductor to resonate and generate harmonic electric and magnetic field responses. Disruptions in at least one of the electric and magnetic field responses during this lateral movement are indicative of a lateral location of a subsurface anomaly. Next, relative out-of-plane movement is generated between the electrical conductor and the homogenous material in the vicinity of the anomaly's lateral location. Disruptions in at least one of the electric and magnetic field responses during this out-of-plane movement are indicative of a depth location of the subsurface anomaly. A recording of the disruptions provides a mapping of the anomaly.

  11. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  12. Anaesthesia management in craniovertebral junctional anomalies

    PubMed Central

    Mascarenhas, Oswald

    2016-01-01

    Craniovertebral Junctional (CVJ) anomalies are developmental disorders that affect the skeleton and enclosed neuraxis at the junction of cranium and cervical spine. The high prevalence of airway obstruction and restrictive pulmonary disease in combination with cardiovascular manifestations poses a high anaesthetic risk to these patients. This article provides a discussion of management of anaesthesia in patients with craniovertebral anomalies, the evaluation of risk factors in these patients and their management, including emergency airway issues. PMID:27891026

  13. On the topological interpretation of gravitational anomalies

    NASA Astrophysics Data System (ADS)

    Perrot, Denis

    2001-07-01

    We consider the mixed gravitational Yang-Mills anomaly as the coupling between the K-theory and K-homology of a C ∗-algebra crossed product. The index theorem of Connes-Moscovici allows to compute the Chern character of the K-cycle by local formulae involving connections and curvatures. It gives a topological interpretation to the anomaly, in the sense of noncommutative algebras.

  14. [Mild type of the Ebstein anomaly].

    PubMed

    Jedliński, Ireneusz; Jamrozek-Jedlińska, Maria; Bugajski, Paweł; Waśniewski, Michał; Poprawski, Kajetan; Słomczyński, Marek

    2011-01-01

    Ebstein anomaly is a congenital malformation of the heart that is characterised by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialisation of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We present a case of a mild type Ebstein anomaly leading to moderate tricuspid valve regurgitation and some degree of right ventricular dysfunction.

  15. Gauge anomalies in Lorentz-violating QED

    NASA Astrophysics Data System (ADS)

    Santos, Tiago R. S.; Sobreiro, Rodrigo F.

    2016-12-01

    In this work we study the issue of gauge anomalies in Lorentz-violating QED. To do so, we opt to use the Becchi-Rouet-Stora-Tyutin formalism within the algebraic renormalization approach, reducing our study to a cohomology problem. Since this approach is independent of the renormalization scheme, the results obtained here are expected to be general. We find that the Lorentz-violating QED is free of gauge anomalies to all orders in perturbation theory.

  16. Toward Continuous GPS Carrier-Phase Time Transfer: Eliminating the Time Discontinuity at an Anomaly

    PubMed Central

    Yao, Jian; Levine, Judah; Weiss, Marc

    2015-01-01

    The wide application of Global Positioning System (GPS) carrier-phase (CP) time transfer is limited by the problem of boundary discontinuity (BD). The discontinuity has two categories. One is “day boundary discontinuity,” which has been studied extensively and can be solved by multiple methods [1–8]. The other category of discontinuity, called “anomaly boundary discontinuity (anomaly-BD),” comes from a GPS data anomaly. The anomaly can be a data gap (i.e., missing data), a GPS measurement error (i.e., bad data), or a cycle slip. Initial study of the anomaly-BD shows that we can fix the discontinuity if the anomaly lasts no more than 20 min, using the polynomial curve-fitting strategy to repair the anomaly [9]. However, sometimes, the data anomaly lasts longer than 20 min. Thus, a better curve-fitting strategy is in need. Besides, a cycle slip, as another type of data anomaly, can occur and lead to an anomaly-BD. To solve these problems, this paper proposes a new strategy, i.e., the satellite-clock-aided curve fitting strategy with the function of cycle slip detection. Basically, this new strategy applies the satellite clock correction to the GPS data. After that, we do the polynomial curve fitting for the code and phase data, as before. Our study shows that the phase-data residual is only ~3 mm for all GPS satellites. The new strategy also detects and finds the number of cycle slips by searching the minimum curve-fitting residual. Extensive examples show that this new strategy enables us to repair up to a 40-min GPS data anomaly, regardless of whether the anomaly is due to a data gap, a cycle slip, or a combination of the two. We also find that interference of the GPS signal, known as “jamming”, can possibly lead to a time-transfer error, and that this new strategy can compensate for jamming outages. Thus, the new strategy can eliminate the impact of jamming on time transfer. As a whole, we greatly improve the robustness of the GPS CP time transfer

  17. Toward Continuous GPS Carrier-Phase Time Transfer: Eliminating the Time Discontinuity at an Anomaly.

    PubMed

    Yao, Jian; Levine, Judah; Weiss, Marc

    2015-01-01

    The wide application of Global Positioning System (GPS) carrier-phase (CP) time transfer is limited by the problem of boundary discontinuity (BD). The discontinuity has two categories. One is "day boundary discontinuity," which has been studied extensively and can be solved by multiple methods [1-8]. The other category of discontinuity, called "anomaly boundary discontinuity (anomaly-BD)," comes from a GPS data anomaly. The anomaly can be a data gap (i.e., missing data), a GPS measurement error (i.e., bad data), or a cycle slip. Initial study of the anomaly-BD shows that we can fix the discontinuity if the anomaly lasts no more than 20 min, using the polynomial curve-fitting strategy to repair the anomaly [9]. However, sometimes, the data anomaly lasts longer than 20 min. Thus, a better curve-fitting strategy is in need. Besides, a cycle slip, as another type of data anomaly, can occur and lead to an anomaly-BD. To solve these problems, this paper proposes a new strategy, i.e., the satellite-clock-aided curve fitting strategy with the function of cycle slip detection. Basically, this new strategy applies the satellite clock correction to the GPS data. After that, we do the polynomial curve fitting for the code and phase data, as before. Our study shows that the phase-data residual is only ~3 mm for all GPS satellites. The new strategy also detects and finds the number of cycle slips by searching the minimum curve-fitting residual. Extensive examples show that this new strategy enables us to repair up to a 40-min GPS data anomaly, regardless of whether the anomaly is due to a data gap, a cycle slip, or a combination of the two. We also find that interference of the GPS signal, known as "jamming", can possibly lead to a time-transfer error, and that this new strategy can compensate for jamming outages. Thus, the new strategy can eliminate the impact of jamming on time transfer. As a whole, we greatly improve the robustness of the GPS CP time transfer.

  18. Acoustic Wood anomaly in transmitted diffraction field

    NASA Astrophysics Data System (ADS)

    Liu, Jingfei; Declercq, Nico F.

    2017-03-01

    In acoustics, the term Wood anomaly, in analogy to the Wood anomaly in optics, has so far referred to the anomalies observed in the specular reflection spectra of acoustic waves perpendicularly incident on periodic surfaces. Inspired by the pioneering work of Jungman et al. on the study of the transmission field of a solid-fluid periodic interface, this work attempts to provide a complete experimental investigation of the transmission fields of a broadband sound pulse transmitted through a periodic liquid-solid interface as well as a periodic solid-liquid interface. At different frequencies, two types of anomalies are observed: a spectral tip and a spectral dip, which correspond, respectively, to the brighter band and the darker band in optical Wood anomalies. The search for their physical origin suggests that the type and location of the observed spectral anomalies are strongly related to the generation and the diffraction of pseudosurface waves on the interface having superimposed periodic corrugations and time-domain windowing in spectral analysis. To compare with the surface waves on a plane surface, the properties of the pseudosurface waves are also investigated through examining their phase and by comparing their amplitudes.

  19. IDENTIFYING ANOMALIES IN GRAVITATIONAL LENS TIME DELAYS

    SciTech Connect

    Congdon, Arthur B.; Keeton, Charles R.; Nordgren, C. Erik E-mail: keeton@physics.rutgers.ed

    2010-02-01

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

  20. Adipose-Vascular Coupling and Potential Therapeutics.

    PubMed

    Gollasch, Maik

    2017-01-06

    Excess visceral adipose tissue is associated with increased risk of high blood pressure, lipid disorders, type 2 diabetes, and cardiovascular disease. Adipose tissue is an endocrine organ with multiple humoral and metabolic roles in regulating whole-body physiology. However, perivascular adipose tissue (PVAT) also plays a functional role in regulating the contractile state of the underlying smooth muscle cell layer. Work during the past decade has shown that this adipose-vascular coupling is achieved by production of numerous substances released from PVAT. Animal disease models have been instrumental in identifying biological and pathophysiological functions of this regulation. These studies have produced strong evidence that alterations in the paracrine control of PVAT in the regulation of arterial tone contribute to vascular dysfunction in obesity, hypertension, and cardiometabolic disease. Perivascular relaxing factors, or perhaps their putative targets, might represent exciting new targets for the prevention and treatment of cardiovascular and metabolic diseases.

  1. Allograft vasculopathy after allogeneic vascularized knee transplantation.

    PubMed

    Diefenbeck, Michael; Nerlich, Andreas; Schneeberger, Stefan; Wagner, Frithjof; Hofmann, Gunther O

    2011-01-01

    Composite tissue allotransplantation represents a new discipline in reconstructive surgery. Over the past 10 years, we have performed six human vascularized allogeneic knee transplantations. All of these grafts have been lost within the first 56 months. A histomorphologic assessment of the latest case resulted in the detection of diffuse concentric fibrous intimal thickening and occlusion of graft vessels. Findings are comparable with cardiac allograft vasculopathy. The lack of adequate tools for monitoring graft rejection might have allowed multiple untreated episodes of acute rejection, triggering myointimal proliferation and occlusion of graft vessels. Graft vasculopathy represents an obstacle to long-term vascularized bone and joint allograft survival, and adequate tools for monitoring need to be developed.

  2. Coexistence of pheochromocytoma with uncommon vascular lesions

    PubMed Central

    Kota, Sunil Kumar; Kota, Siva Krishna; Meher, Lalit Kumar; Jammula, Sruti; Panda, Sandip; Modi, Kirtikumar D.

    2012-01-01

    Background: Pheochromocytoma/paragangliomas have been described to be associated with rare vascular abnormalities like renal artery stenosis. Coexistence of physiologically significant renal artery lesions is a compounding factor that alters management and prognosis of pheochromocytoma patients. Apart from individual case reports, data on such association in Indian population is not available. The aim of this study is to find the nature and prevalence of associated vascular abnormalities. Materials and Methods: From 1990 to 2010, a total of 50 patients were diagnosed with pheochromocytoma/paragangliomas. Hospital charts of these patients were reviewed retrospectively to identify those with unusual vascular abnormalities. Available literature was also reviewed. Results: Of the 50 patients with pheochromocytoma, 7 (14%) had coexisting vascular lesions including renal artery stenosis in 4, aortoarteritis in 1, aortic aneurysm in 1 and inferior vena cava thrombosis in 1. Pheochromocytoma was adrenal in 42 and extra adrenal in 8. Laparoscopic adrenalectomy was done in the patients. One patient with renal artery stenosis due to intimal fibrosis was subjected to percutaneous balloon angioplasty; the other three improved after adrenalectomy and lysis of fibrous adhesive bands. The patient with aortoarteritos was treated with oral steroids. Inferior vena cava thrombosis was reversed with anticoagulants. The patient with abdominal aortic aneurysm was advised for annual follow-up on account of its size of 4.5 cm and asymptomatic presentation. Conclusion: There are multiple mechanisms that can lead to renal artery stenosis and other vascular abnormalities in a case of pheochromocytoma. A high index of suspicion is necessary to enable both entities to be diagnosed preoperatively and allow proper planning of surgical therapy. Incomplete diagnosis may lead to persistent hypertension postoperatively in a case of associated renal artery stenosis. PMID:23226643

  3. MAGSAT correlations with geoid anomalies. [magnetic anomalies in the western Gulf of Mexico

    NASA Technical Reports Server (NTRS)

    Bowin, C. O. (Principal Investigator)

    1984-01-01

    A digital data library of MAGSAT data is described and its applications and capabilities are reviewed. Polynomial trends were removed from each half-orbit in order to estimate and remove ring current effects from the data. The MAGSAT data in the Gulf of Mexico region was analyzed to define better the possible relation of the negative MAGSAT anomaly there to the negative residual geoid anomaly in the western Gulf of Mexico. Since the shape and location of the negative magnetic anomaly are variable depending upon the particular polynomial surface and curve orders used, no definitive conclusion as to the degree of correspondance between the residual geoid and MAGSAT lithosphere anomalies is offered.

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

    NASA Technical Reports Server (NTRS)

    McIntosh, Dawn

    2006-01-01

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

  5. Cloud Radiative Forcing Anomalies Associated with and Their Effects on the Atmospheric Response to Equatorial Pacific SST Anomalies

    NASA Astrophysics Data System (ADS)

    Chen, Minghang

    The NCAR CCM2 has been used in this study to investigate cloud radiative forcing (CRF) anomalies associated with equatorial Pacific SST anomalies, and the effects of the longwave CRF (LWCRF) anomalies on the atmospheric response to the SST anomalies. The SST anomalies cause large CRF anomalies, both longwave and shortwave, as well as latent heat anomalies at low latitudes on a global scale. The relative magnitude of the simulated longwave and shortwave CRF anomalies is consistent with the result of the Earth Radiation Budget Experiment (ERBE), which means cloud height and cloud radiative properties, such as emissivity and reflectivity, are well simulated by the model. The CRF anomalies, however, are underestimated in the CCM2. This underestimate of the CRF anomalies is due to the insufficient high cloud amount anomaly in the model. The LWCRF anomaly strongly enhances the precipitation anomaly in the whole tropical belt. The positive (negative) LWCRF anomaly warms (cools) the troposphere and destabilizes (stabilizes) the upper troposphere. The LWCRF anomaly enhances the Southern Oscillation, both the positive sea level pressure (SLP) anomaly in the Indonesia-Australia region and the negative SLP anomaly in the central and eastern Pacific, and the related Walker circulation anomaly. The effects of the LWCRF anomaly are essential to the NH extratropical circulation anomaly, the PNA pattern. The LWCRF anomaly has a large contribution to the three action centers of the PNA pattern at all levels. This large contribution results from the direct thermal effect of the tropical LWCRF anomaly and its strong positive interaction with tropical deep convection. As a consequence of the complex interaction between the forced wave train, orographic forcing and other factors, the contribution rates of the LWCRF anomaly to the three PNA action centers are different.

  6. Retinal Vascular Changes are a Marker for Cerebral Vascular Diseases.

    PubMed

    Moss, Heather E

    2015-07-01

    The retinal circulation is a potential marker of cerebral vascular disease because it shares origin and drainage with the intracranial circulation and because it can be directly visualized using ophthalmoscopy. Cross-sectional and cohort studies have demonstrated associations between chronic retinal and cerebral vascular disease, acute retinal and cerebral vascular disease, and chronic retinal vascular disease and acute cerebral vascular disease. In particular, certain qualitative features of retinopathy, retinal artery occlusion, and increased retinal vein caliber are associated with concurrent and future cerebrovascular events. These associations persist after accounting for confounding variables known to be disease-causing in both circulations, which supports the potential use of retinal vasculature findings to stratify individuals with regards to cerebral vascular disease risk.

  7. Implementation of a General Real-Time Visual Anomaly Detection System Via Soft Computing

    NASA Technical Reports Server (NTRS)

    Dominguez, Jesus A.; Klinko, Steve; Ferrell, Bob; Steinrock, Todd (Technical Monitor)

    2001-01-01

    The intelligent visual system detects anomalies or defects in real time under normal lighting operating conditions. The application is basically a learning machine that integrates fuzzy logic (FL), artificial neural network (ANN), and generic algorithm (GA) schemes to process the image, run the learning process, and finally detect the anomalies or defects. The system acquires the image, performs segmentation to separate the object being tested from the background, preprocesses the image using fuzzy reasoning, performs the final segmentation using fuzzy reasoning techniques to retrieve regions with potential anomalies or defects, and finally retrieves them using a learning model built via ANN and GA techniques. FL provides a powerful framework for knowledge representation and overcomes uncertainty and vagueness typically found in image analysis. ANN provides learning capabilities, and GA leads to robust learning results. An application prototype currently runs on a regular PC under Windows NT, and preliminary work has been performed to build an embedded version with multiple image processors. The application prototype is being tested at the Kennedy Space Center (KSC), Florida, to visually detect anomalies along slide basket cables utilized by the astronauts to evacuate the NASA Shuttle launch pad in an emergency. The potential applications of this anomaly detection system in an open environment are quite wide. Another current, potentially viable application at NASA is in detecting anomalies of the NASA Space Shuttle Orbiter's radiator panels.

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

    PubMed

    van Trier, Dorothée C; Feenstra, Ilse; Bot, Petra; de Leeuw, Nicole; Draaisma, Jos M Th

    2013-08-01

    Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two girls with a terminal 18q deletion, one in whom an Ebstein anomaly and Wolff-Parkinson-White syndrome were detected and the other with multiple valve stenosis and a ventricular septal defect. The genotype and cardiac abnormalities of these girls and 17 other individuals with a de novo 18qter deletion reported in the literature are reviewed. All 19 individuals shared a small overlapping deletion region between 18q22.3q23. The most common cardiac defects detected were pulmonary valve anomalies and atrial septal defects. Ebstein anomaly, a rare cardiac malformation, was diagnosed in two individuals. Additional molecularly based genotype-phenotype studies are needed in order to pinpoint candidate genes within this region that contribute to normal cardiac development. A careful cardiac evaluation consisting of physical examination, ECG and ultrasound examination should be performed in all individuals diagnosed with the 18q deletion syndrome.

  9. [Vascular access in the elderly: AVF vs CVC. A comment].

    PubMed

    Bertoli, S V; Musetti, C

    2008-01-01

    The aging population starting hemodialysis treatment raises the question as to which is the best vascular access in an older patient with multiple complications. The center effect is an important element in the choice of a vascular access, as shown by the DOPPS data and by a recent audit held in Lombardy. However, other data show an increase in the use of permanent CVCs in the last years and other factors must be taken into account in this clinical choice. Also the timing of proposing a vascular access to a patient has changed over the years (see K-DOQI 2006 vs 2000). Most of the literature agrees on the strategy of a global clinical evaluation of the patient to decide when to place a vascular access and which type of access to use. Native and prosthetic fistulas are considered superior to CVCs although the latter have certain advantages in selected patients, such as those with severe cardiac problems. The nephrologist has a major role in vascular access management as part of a team made up also by a vascular surgeon and an interventional radiologist. Only in a center where both native and prosthetic fistulas can be constructed and permanent CVCs be placed can a nephrologist choose the most appropriate vascular access for individual patients after evaluation not only of their renal function but their cardiovascular risk as well.

  10. Assessment of vascular regeneration in the CNS using the mouse retina.

    PubMed

    Miloudi, Khalil; Dejda, Agnieszka; Binet, François; Lapalme, Eric; Cerani, Agustin; Sapieha, Przemyslaw

    2014-06-23

    The rodent retina is perhaps the most accessible mammalian system in which to investigate neurovascular interplay within the central nervous system (CNS). It is increasingly being recognized that several neurodegenerative diseases such as Alzheimer's, multiple sclerosis, and amyotrophic lateral sclerosis present elements of vascular compromise. In addition, the most prominent causes of blindness in pediatric and working age populations (retinopathy of prematurity and diabetic retinopathy, respectively) are characterized by vascular degeneration and failure of physiological vascular regrowth. The aim of this technical paper is to provide a detailed protocol to study CNS vascular regeneration in the retina. The method can be employed to elucidate molecular mechanisms that lead to failure of vascular growth after ischemic injury. In addition, potential therapeutic modalities to accelerate and restore healthy vascular plexuses can be explored. Findings obtained using the described approach may provide therapeutic avenues for ischemic retinopathies such as that of diabetes or prematurity and possibly benefit other vascular disorders of the CNS.

  11. Security inspection in ports by anomaly detection using hyperspectral imaging technology

    NASA Astrophysics Data System (ADS)

    Rivera, Javier; Valverde, Fernando; Saldaña, Manuel; Manian, Vidya

    2013-05-01

    Applying hyperspectral imaging technology in port security is crucial for the detection of possible threats or illegal activities. One of the most common problems that cargo suffers is tampering. This represents a danger to society because it creates a channel to smuggle illegal and hazardous products. If a cargo is altered, security inspections on that cargo should contain anomalies that reveal the nature of the tampering. Hyperspectral images can detect anomalies by gathering information through multiple electromagnetic bands. The spectrums extracted from these bands can be used to detect surface anomalies from different materials. Based on this technology, a scenario was built in which a hyperspectral camera was used to inspect the cargo for any surface anomalies and a user interface shows the results. The spectrum of items, altered by different materials that can be used to conceal illegal products, is analyzed and classified in order to provide information about the tampered cargo. The image is analyzed with a variety of techniques such as multiple features extracting algorithms, autonomous anomaly detection, and target spectrum detection. The results will be exported to a workstation or mobile device in order to show them in an easy -to-use interface. This process could enhance the current capabilities of security systems that are already implemented, providing a more complete approach to detect threats and illegal cargo.

  12. Turner's syndrome and cardiovascular anomalies: a case report and review of the literature.

    PubMed

    Subramaniam, P N

    1989-04-01

    Turner's syndrome is a genetic disease in which many cardiovascular anomalies have been reported, coarctation of the aorta being the most frequent. The most serious complication that can arise from these abnormalities is aortic dissection. The authors present an unusual case of Turner's syndrome with an aortic sinus aneurysm and severe aortic insufficiency in the absence of coarctation of the aorta. The various cardiovascular anomalies seen in Turner's syndrome, such as coarctation of the aorta, bicuspid aortic valve, aortic dissection, aortic sinus aneurysm and ascending aorta aneurysm, can best be understood on a common basis of congenital structural abnormalities involving the aorta and the aortic valve. The only evidence available for such an abnormality is the presence of cystic medial necrosis in the affected vascular tissues.

  13. Unusual Congenital Aortic Anomaly with Rare Common Celiamesenteric Trunk Variation: MR Angiography and Digital Substraction Angiography Findings

    SciTech Connect

    Tosun, Ozgur Sanlidilek, Umman; Cetin, Huseyin; Ozdemir, Ozcan; Kurt, Aydin; Sakarya, Mehmet Emin; Tas, Ismet

    2007-09-15

    Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels.

  14. [Cervical vascular penetrating trauma].

    PubMed

    Etl, S; Hafer, G; Mundinger, A

    2000-01-01

    The case of a 25 year old male with a stab wound of common carotid artery and the internal jugular vein is reported. He was admitted in severe hemorrhagic shock and immediately treated successfully by arterial reconstruction by means of a venous patch. Mild, declining neurological deficits correlated in magnetic resonance imaging with disturbances in the perfusion area of the medial cerebral artery. A survey of the literature shows that the fast repair of the carotid artery is clearly to be given preference to ligature. First can be executed successfully in exceptional emergency cases also by non-carotid surgeons, if basic vascular-surgical techniques are controlled.

  15. Preliminary aeromagnetic anomaly map of California

    USGS Publications Warehouse

    Roberts, Carter W.; Jachens, Rober C.

    1999-01-01

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

  16. Whole exome sequence analysis of Peters anomaly

    PubMed Central

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

    2015-01-01

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

  17. Sclerotherapy and cryotherapy in the management of oral vascular lesions: a series of 10 cases.

    PubMed

    Araujo, Melissa Rodrigues de; Jomaa, Sanaha; Mobile, Rafael Zancan; Uetanabaro, Lucas Caetano; Giovanini, Allan Fernando; Scariot, Rafaela; Moro, Alexandre

    2016-01-01

    Vascular anomalies such as hemangiomas or vascular malformations can produce negative esthetic effects in the maxillofacial region. These negative effects are the main complaints of patients. The clinical therapeutic efficacy of cryotherapy and sclerotherapy in the treatment of these lesions was evaluated in 10 patients who were clinically diagnosed with vascular lesions. Lesions were submitted to either cryotherapy or sclerotherapy, and follow-up showed that cryotherapy and sclerotherapy both were clinically effective in treating oral vascular lesions. Cryotherapy is an easy to perform method that requires only 1 session, but the high cost of the equipment is a limiting factor. Sclerotherapy is a noninvasive treatment widely accepted by patients, but more than 1 session is required.

  18. Nd:YAG laser photocoagulation of benign oral vascular lesions: a case series.

    PubMed

    Medeiros, Rui; Silva, Igor Henrique; Carvalho, Alessandra Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino

    2015-11-01

    Vascular anomalies of the head and neck are common lesions usually associated with functional and/or aesthetic limitations. The aim of the present paper was to report a case series of oral vascular malformations treated with Nd:YAG laser photocoagulation, highlighting the clinical evolution and post-surgical complications. Fifteen patients diagnosed with oral vascular malformations were treated with Nd:YAG laser followed by three sessions of biostimulation. None of the patients presented post-surgical pain, but 6 of 15 patients (40%) experienced minimal post-surgical complications. All cases presented complete resolution of the lesions after laser treatment. More importantly, 12 out of 15 (80%) resolved after a single session. Low morbidity, minimal patient discomfort, and satisfactory aesthetic results point Nd:YAG laser photocoagulation as a promising option for the management of benign oral vascular lesions.

  19. The pathobiology of vascular dementia

    PubMed Central

    Iadecola, Costantino

    2013-01-01

    Vascular cognitive impairment defines alterations in cognition, ranging from subtle deficits to full-blown dementia, attributable to cerebrovascular causes. Often coexisting with Alzheimer’s disease, mixed vascular and neurodegenerative dementia has emerged as the leading cause of age-related cognitive impairment. Central to the disease mechanism is the crucial role that cerebral blood vessels play in brain health, not only for the delivery of oxygen and nutrients, but also for the trophic signaling that links inextricably the well being of neurons and glia to that of cerebrovascular cells. This review will examine how vascular damage disrupts these vital homeostatic interactions, focusing on the hemispheric white matter, a region at heightened risk for vascular damage, and on the interplay between vascular factors and Alzheimer’s disease. Finally, preventative and therapeutic prospects will be examined, highlighting the importance of midlife vascular risk factor control in the prevention of late-life dementia. PMID:24267647

  20. Radionuclide imaging of rare congenital renal fusion anomalies.

    PubMed

    Volkan, Bilge; Ceylan, Emel; Kiratli, Pinar Ozgen

    2003-03-01

    Demonstration of a congenital renal anomaly plays an important role in the treatment of patients with renal infection. These patients are prone to infections because of coexisting urinary tract anomalies such as duplicated ureter, ureter opening anomalies, and urinary stasis. Assessment of renal parenchymal damage resulting from acute or chronic renal infection is the primary indication for radionuclide imaging with Tc-99m DMSA. In addition, this technique allows congenital anomalies to be identified. The authors review congenital renal fusion anomalies identified in children through Tc-99m DMSA imaging. They conclude that Tc-99m DMSA imaging can reveal important diagnostic information about various congenital anomalies, including fusion anomalies.

  1. Demyelinating, degenerative, and vascular disease.

    PubMed

    Dooley, D M

    1977-01-01

    Fifty per cent of patients diagnosed as having multiple sclerosis, primary lateral sclerosis, or hereditary spinocerebellar disorders were observed to have enduring favorable changes in neurological function during the 15 to 27 months they have been followed. The patients who were the least severely disabled were benefitted the most by the stimulation and made the most rapid progress. For example, the patient having only an ataxic or a spastic gait typically was observed to improve faster than the patient having both an ataxic and a spastic gait. The long term effect of electrostimulation of the spinal cord on these patients is unknown. The purpose of the stimulation is to attempt to obtain an improvement in neurological function so that the patient may experience a better life style. It is not thought that the electrical current has any effect on the basic disease process. Electrostimulation over the posterior spinal roots and spinal cord, although not new, has not been used extensively for the treatment of patients with arterial disease. The patients who have responded the most dramatically to electrostimulation are those with vasospastic disorders. A larger percentage of patients showed a greater response to implanted stimulation than to transcutaneous stimulation. Electrostimulation of the nervous system is not designed to replace standard therapeutic measures of treatment of patients with vascular disease, but to supplement them.

  2. Vascular Distribution of Nanomaterials

    PubMed Central

    Stapleton, Phoebe A.; Nurkiewicz, Timothy R.

    2014-01-01

    Once considered primarily occupational, novel nanotechnology innovation and application has led to widespread domestic use and intentional biomedical exposures. With these exciting advances, the breadth and depth of toxicological considerations must also be expanded. The vascular system interacts with every tissue in the body, striving to homeostasis. Engineered nanomaterials (ENM) have been reported to distribute in many different organs and tissues. However, these observations have tended to use approaches requiring tissue homogenization and/or gross organ analyses. These techniques, while effective in establishing presence, preclude an exact determination of where ENM are deposited within a tissue. It is necessary to identify this exact distribution and deposition of ENM throughout the cardiovascular system, with respect to vascular hemodynamics and in vivo/ in vitro ENM modifications taken into account if nanotechnology is to achieve its full potential. Distinct levels of the vasculature will first be described as individual compartments. Then the vasculature will be considered as a whole. These unique compartments and biophysical conditions will be discussed in terms of their propensity to favor ENM deposition. Understanding levels of the vasculature will also be discussed. Ultimately, future studies must verify the mechanisms speculated on and presented herein. PMID:24777845

  3. History of vascular access.

    PubMed

    Dudrick, Stanley J

    2006-01-01

    Milestones in the history of the development of vascular access and the subsequent advances in practical clinical applications of the knowledge, techniques, technology, and experience to the beneficial management of a variety of patients are described. The original achievements are presented and briefly discussed primarily, but not exclusively, in relationship to the successful development of parenteral nutrition (PN). Beginning with the discovery of the circulation of blood, landmark events, resulting from astute observations, experimentation, and ingenious technological advances, are summarized or outlined chronologically over the past 4 centuries, with emphasis on the many recent accomplishments of basic and clinical scientists during the past 6 decades. Brief descriptions of several seminal contributions to safe and effective IV access, management, and therapy acknowledge and recognize the historical highlights that have allowed a complex and potentially hazardous therapeutic modality to evolve into a commonly applied useful adjunct to our current inpatient and outpatient armamentarium. A comprehensive list of references documents the highlights of the development of vascular access for the student of history.

  4. Vascular pattern formation in plants.

    PubMed

    Scarpella, Enrico; Helariutta, Ykä

    2010-01-01

    Reticulate tissue systems exist in most multicellular organisms, and the principles underlying the formation of cellular networks have fascinated philosophers, mathematicians, and biologists for centuries. In particular, the beautiful and varied arrangements of vascular tissues in plants have intrigued mankind since antiquity, yet the organizing signals have remained elusive. Plant vascular tissues form systems of interconnected cell files throughout the plant body. Vascular cells are aligned with one another along continuous lines, and vascular tissues differentiate at reproducible positions within organ environments. However, neither the precise path of vascular differentiation nor the exact geometry of vascular networks is fixed or immutable. Several recent advances converge to reconcile the seemingly conflicting predictability and plasticity of vascular tissue patterns. A control mechanism in which an apical-basal flow of signal establishes a basic coordinate system for body axis formation and vascular strand differentiation, and in which a superimposed level of radial organizing cues elaborates cell patterns, would generate a reproducible tissue configuration in the context of an underlying robust, self-organizing structure, and account for the simultaneous regularity and flexibility of vascular tissue patterns.

  5. Hyperbolic Orbits and the Planetary Flylby Anomaly

    NASA Technical Reports Server (NTRS)

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

    2009-01-01

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

  6. Hyperspectral Anomaly Detection in Urban Scenarios

    NASA Astrophysics Data System (ADS)

    Rejas Ayuga, J. G.; Martínez Marín, R.; Marchamalo Sacristán, M.; Bonatti, J.; Ojeda, J. C.

    2016-06-01

    We have studied the spectral features of reflectance and emissivity in the pattern recognition of urban materials in several single hyperspectral scenes through a comparative analysis of anomaly detection methods and their relationship with city surfaces with the aim to improve information extraction processes. Spectral ranges of the visible-near infrared (VNIR), shortwave infrared (SWIR) and thermal infrared (TIR) from hyperspectral data cubes of AHS sensor and HyMAP and MASTER of two cities, Alcalá de Henares (Spain) and San José (Costa Rica) respectively, have been used. In this research it is assumed no prior knowledge of the targets, thus, the pixels are automatically separated according to their spectral information, significantly differentiated with respect to a background, either globally for the full scene, or locally by image segmentation. Several experiments on urban scenarios and semi-urban have been designed, analyzing the behaviour of the standard RX anomaly detector and different methods based on subspace, image projection and segmentation-based anomaly detection methods. A new technique for anomaly detection in hyperspectral data called DATB (Detector of Anomalies from Thermal Background) based on dimensionality reduction by projecting targets with unknown spectral signatures to a background calculated from thermal spectrum wavelengths is presented. First results and their consequences in non-supervised classification and extraction information processes are discussed.

  7. Geopotential field anomalies and regional tectonic features

    NASA Astrophysics Data System (ADS)

    Mandea, Mioara; Korte, Monika

    2016-07-01

    Maps of both gravity and magnetic field anomalies offer crucial information about physical properties of the Earth's crust and upper mantle, required in understanding geological settings and tectonic structures. Density and magnetization represent independent rock properties and thus provide complementary information on compositional and structural changes. Two regions are considered: southern Africa (encompassing South Africa, Namibia and Botswana) and Germany. This twofold choice is motivated firstly by the fact that these regions represent rather diverse geological and geophysical conditions (old Archean crust with strong magnetic anomalies in southern Africa, and much younger, weakly magnetized crust in central Europe) and secondly by our intimate knowledge of the magnetic vector ground data from these two regions. We take also advantage of the recently developed satellite potential field models and compare magnetic and gravity gradient anomalies of some 200 km resolution. Comparing short and long wavelength anomalies and the correlation of rather large scale magnetic and gravity anomalies, and relating them to known lithospheric structures, we generally find a better agreement over the southern African region than the German territory. This probably indicates a stronger concordance between near-surface and deeper structures in the former area, which can be perceived to agree with a thicker lithosphere.

  8. Bilateral first and second arch anomalies: a rare presentation.

    PubMed

    Singh, Amit Pal; Kumar, Virad; Narula, Vineet; Meher, Ravi; Raj, Anoop

    2012-04-01

    Branchial sinuses are one of the most common congenital anomalies present. They are usually unilateral; bilateral cases are present but are rare. The presentation of bilateral branchial sinus anomalies along with bilateral first arch anomalies is very rare. Here, we present a case of bilateral first arch anomalies co-existing with bilateral second arch anomalies in a patient with no related family history and no associated syndrome.

  9. Vasoregression: A Shared Vascular Pathology Underlying Macrovascular And Microvascular Pathologies?

    PubMed Central

    Gupta, Akanksha

    2015-01-01

    Abstract Vasoregression is a common phenomenon underlying physiological vessel development as well as pathological microvascular diseases leading to peripheral neuropathy, nephropathy, and vascular oculopathies. In this review, we describe the hallmarks and pathways of vasoregression. We argue here that there is a parallel between characteristic features of vasoregression in the ocular microvessels and atherosclerosis in the larger vessels. Shared molecular pathways and molecular effectors in the two conditions are outlined, thus highlighting the possible systemic causes of local vascular diseases. Our review gives us a system-wide insight into factors leading to multiple synchronous vascular diseases. Because shared molecular pathways might usefully address the diagnostic and therapeutic needs of multiple common complex diseases, the literature analysis presented here is of broad interest to readership in integrative biology, rational drug development and systems medicine. PMID:26669709

  10. Additive Manufacturing of Vascular Grafts and Vascularized Tissue Constructs.

    PubMed

    Elomaa, Laura; Yang, Yunzhi Peter

    2017-01-10

    There is a great need for engineered vascular grafts among patients with cardiovascular diseases who are in need of bypass therapy and lack autologous healthy blood vessels. In addition, because of the severe worldwide shortage of organ donors, there is an increasing need for engineered vascularized tissue constructs as an alternative to organ transplants. Additive manufacturing (AM) offers great advantages and flexibility of fabrication of cell-laden, multimaterial, and anatomically shaped vascular grafts and vascularized tissue constructs. Various inkjet-, extrusion-, and photocrosslinking-based AM techniques have been applied to the fabrication of both self-standing vascular grafts and porous, vascularized tissue constructs. This review discusses the state-of-the-art research on the use of AM for vascular applications and the key criteria for biomaterials in the AM of both acellular and cellular constructs. We envision that new smart printing materials that can adapt to their environment and encourage rapid endothelialization and remodeling will be the key factor in the future for the successful AM of personalized and dynamic vascular tissue applications.

  11. MTHFR and ACE Gene Polymorphisms and Risk of Vascular and Degenerative Dementias in the Elderly

    ERIC Educational Resources Information Center

    Pandey, Pratima; Pradhan, Sunil; Modi, Dinesh Raj; Mittal, Balraj

    2009-01-01

    Focal lacunar infarctions due to cerebral small vessel atherosclerosis or single/multiple large cortical infarcts lead to vascular dementia, and different genes and environmental factors have been implicated in causation or aggravation of the disease. Previous reports suggest that some of the risk factors may be common to both vascular as well as…

  12. 219 vascular fellows' perception of the future of vascular surgery.

    PubMed

    Hingorani, Anil P; Ascher, Enrico; Marks, Natalie; Shiferson, Alexander; Puggioni, Alessandra; Tran, Victor; Patel, Nirav; Jacob, Theresa

    2009-01-01

    In an attempt to identify the fellows' concerns about the future of the field of vascular surgery, we conducted a survey consisting of 22 questions at an annual national meeting in March from 2004 to 2007. In order to obtain accurate data, all surveys were kept anonymous. The fellows were asked (1) what type of practice they anticipated they would be in, (2) what the new training paradigm for fellows should be, (3) to assess their expectation of the needed manpower with respect to the demand for vascular surgeons, (4) what were major threats to the future of vascular surgery, (5) whether they had heard of and were in favor of the American Board of Vascular Surgery (ABVS), (6) who should be able to obtain vascular privileges, and (7) about their interest in an association for vascular surgical trainees. Of 273 attendees, 219 (80%) completed the survey. Males made up 87% of those surveyed, and 60% were between the ages of 31 and 35 years. Second-year fellows made up 82% of those surveyed. Those expecting to join a private, academic, or mixed practice made up 35%, 28%, and 20% of the respondents, respectively, with 71% anticipating entering a 100% vascular practice. Forty percent felt that 5 years of general surgery with 2 years of vascular surgery should be the training paradigm, while 45% suggested 3 and 3 years, respectively. A majority, 79%, felt that future demand would exceed the available manpower, while 17% suggested that manpower would meet demand. The major challenges to the future of vascular surgery were felt to be competition from cardiology (82%) or radiology (30%) and lack of an independent board (29%). Seventeen percent were not aware of the ABVS, and only 2% were against it; 71% suggested that vascular privileges be restricted to board-certified vascular surgeons. Seventy-six percent were interested in forming an association for vascular trainees to address the issues of the future job market (67%), endovascular training during fellowship (56

  13. Moebius syndrome with Taussig-Bing anomaly.

    PubMed

    Islam, M I; Chowdhury, A S; Hasan, M T

    2014-01-01

    We report a 6 years old male child, presented with difficulty in swallowing, crying and smiling from early infancy and recurrent episodes of cyanosis on exertion for about 2 years. He had facial dysmorphism, clubbing and polydactyly and right sided lower motor neuron type of facial nerve palsy. On examination and relevant investigations findings were consistent with Moebius syndrome and Taussig-Bing anomaly. Moebius syndrome comprises of congenital facial nerve palsy with or without palsy of the other cranial nerves and the associated organ system malformations. Taussig-Bing anomaly is a rare congenital heart malformation consisting of a transposed aorta, a large pulmonary artery which arises primarily from the right ventricle and ventricular septal defect. Simultaneous occurrence of Moebius syndrome and Taussig-Bing anomaly has not yet been reported in the past.

  14. Interpretation of satellite elevation magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Harrison, C. G. A.; Carle, H. M.; Hayling, K. L.

    1986-01-01

    The present discussion is based on a study of the magnetic field data obtained with the aid of the magnetic field satellite Magsat, deployed in October 1979, over most of the earth during a 7.5-month mission. Inversions using spherical harmonic coefficients are considered along with the inversion of residual fields. In order to perform the correct operation, it is necessary to add on to the source function produced by the inversion process a magnetization function which has no external field. Such a function is known as an annihilator. The use of the annihilator for Pacific Ocean anomalies is discussed. Attention is given to models of oceanic crustal magnetization, and continental long-wavelength anomalies. It is found that in continental regions the annihilator is also useful if induced magnetizations are thought to be responsible for the long-wavelength anomaly.

  15. Trace anomaly on a quantum spacetime manifold

    SciTech Connect

    Spallucci, Euro; Smailagic, Anais; Nicolini, Piero

    2006-04-15

    In this paper we investigate the trace anomaly in a space-time where single events are delocalized as a consequence of short distance quantum coordinate fluctuations. We obtain a modified form of heat kernel asymptotic expansion which does not suffer from short distance divergences. Calculation of the trace anomaly is performed using an IR regulator in order to circumvent the absence of UV infinities. The explicit form of the trace anomaly is presented and the corresponding 2D Polyakov effective action and energy-momentum tensor are obtained. The vacuum expectation value of the energy-momentum tensor in the Boulware, Hartle-Hawking and Unruh vacua is explicitly calculated in a rt section of a recently found, noncommutative inspired, Schwarzschild-like solution of the Einstein equations. The standard short distance divergences in the vacuum expectation values are regularized in agreement with the absence of UV infinities removed by quantum coordinate fluctuations.

  16. The mineralogy of global magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Haggerty, S. E. (Principal Investigator)

    1984-01-01

    Experimental and analytical data on magnetic mineralogy was provided as an aid to the interpretation of magnetic anomaly maps. An integrated program, ranging from the chemistry of materials from 100 or more km depth within the Earth, to an examination of the MAGSAT anomaly maps at about 400 km above the Earth's surface, was undertaken. Within this framework, a detailed picture of the pertinent mineralogical and magnetic relationships for the region of West Africa was provided. Efforts were directed toward: (1) examining the geochemistry, mineralogy, magnetic properties, and phases relations of magnetic oxides and metal alloys in rocks demonstrated to have originated in the lower crust of upper mantle, (2) examining the assumption that these rocks portray the nature of their source regions; and (3) examining the regional geology, tectonics, gravity field and the MAGSAT anomaly maps for West Africa.

  17. Continental magnetic anomaly constraints on continental reconstruction

    NASA Technical Reports Server (NTRS)

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

    1985-01-01

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

  18. Anomaly detection enhanced classification in computer intrusion detection

    SciTech Connect

    Fugate, M. L.; Gattiker, J. R.

    2002-01-01

    , this characterization can be compared to data points. Nonstationarity can then be thought of as data that departs from the support of the distribution. Since we can judge that these 'anomalous' examples will be classified poorly, we can treat them difFereritly (or not at all). A second approach uses momaly detection with an assumption that any examples that are different are suspicious, which is an assumption that may or may not be true in an application. We will call this the Outlier Assumption. With this assumption there are simply the performance gains to be had from combining models that have uncorrelated errors into an ensemble with better performance than any of the individual models. This family of techniques has many names, including model averaging, multiple regression, and the very popular boosting approaches. In this approach the two methods are 'peer' results, which are then combined to generate a final result. Staged anomaly detection with the outlier assumption can also be used to create data sub-categories into which the classification method is specifically tuned, or vice-versa. This is an avenue for further work in this application area, and will not be demonstrated in this study. As in our previous work, this report does not attempt to address issues in dataset generation or feature selection. The details of the network and data collection process as well as the way in which this 'raw data' is transformed into well-defined feature vectors is a very important problem. However that exploration is beyond the scope of this effort.

  19. Anomaly Detection for Discrete Sequences: A Survey

    SciTech Connect

    Chandola, Varun; Banerjee, Arindam; Kumar, Vipin

    2012-01-01

    This survey attempts to provide a comprehensive and structured overview of the existing research for the problem of detecting anomalies in discrete/symbolic sequences. The objective is to provide a global understanding of the sequence anomaly detection problem and how existing techniques relate to each other. The key contribution of this survey is the classification of the existing research into three distinct categories, based on the problem formulation that they are trying to solve. These problem formulations are: 1) identifying anomalous sequences with respect to a database of normal sequences; 2) identifying an anomalous subsequence within a long sequence; and 3) identifying a pattern in a sequence whose frequency of occurrence is anomalous. We show how each of these problem formulations is characteristically distinct from each other and discuss their relevance in various application domains. We review techniques from many disparate and disconnected application domains that address each of these formulations. Within each problem formulation, we group techniques into categories based on the nature of the underlying algorithm. For each category, we provide a basic anomaly detection technique, and show how the existing techniques are variants of the basic technique. This approach shows how different techniques within a category are related or different from each other. Our categorization reveals new variants and combinations that have not been investigated before for anomaly detection. We also provide a discussion of relative strengths and weaknesses of different techniques. We show how techniques developed for one problem formulation can be adapted to solve a different formulation, thereby providing several novel adaptations to solve the different problem formulations. We also highlight the applicability of the techniques that handle discrete sequences to other related areas such as online anomaly detection and time series anomaly detection.

  20. Radioactive anomaly discrimination from spectral ratios

    DOEpatents

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

    2013-08-20

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

  1. Adaptive Anomaly Detection using Isolation Forest

    DTIC Science & Technology

    2009-12-20

    detectors such as ORCA [8] and one-class SVM [31], and density-based anomaly detector LOF [9]. The rest of the paper is organised as follows. Section 2...that a value can be computed using this measure. We use k = 5 in our experiments. The second experiment compares HS*-Trees with ORCA [8], one-class...SVM (first mentioned in [31]) and LOF [9]. ORCA employs distance-based definition (ii), stated in sec- tion 3.1, to rank anomalies; LOF is the state-of

  2. Meteoroid-Induced Anomalies on Spacecraft

    NASA Technical Reports Server (NTRS)

    Cooke, Bill

    2015-01-01

    Sporadic meteoroid background is directional (not isotropic) and accounts for 90 percent of the meteoroid risk to a typical spacecraft. Meteor showers get all the press, but account for only approximately10 percent of spacecraft risk. Bias towards assigning meteoroid cause to anomalies during meteor showers. Vast majority of meteoroids come from comets and have a bulk density of approximately 1 gram per cubic centimeter (ice). High speed meteoroids (approximately 50 kilometers per second) can induce electrical anomalies in spacecraft through discharging of charged surfaces (also EMP (electromagnetic pulse?).

  3. Perioperative and Anesthetic Considerations in Ebstein's Anomaly.

    PubMed

    Ross, Faith J; Latham, Gregory J; Richards, Michael; Geiduschek, Jeremy; Thompson, Douglas; Joffe, Denise

    2016-03-01

    Ebstein's anomaly is a complex and heterogeneous form of congenital heart disease characterized by malformation and apical displacement of the tricuspid valve leaflets. Patients may present at any time from the neonatal period to adulthood with symptoms ranging from cardiac failure and cyanosis to paroxysmal arrhythmias. Depending on the timing of presentation, various surgical options are available for the management of symptomatic patients. This review will discuss the perioperative and anesthetic management of patients with Ebstein's anomaly with reference to the more common surgical approaches.

  4. Developmental Venous Anomaly Responsible for Hemifacial Spasm

    PubMed Central

    Chiaramonte, R.; Bonfiglio, M.; D'Amore, A.; Chiaramonte, I.

    2013-01-01

    Hemifacial spasm (HFS) is a facial movement disorder characterized by involuntary, unilateral and intermittent contractions of the facial muscles. It is one of the syndromes related to neurovascular conflict, first described by Jannetta et al. in 1979. Typically, HFS is due to pulsatile compression by the anterior inferior cerebellar artery. We describe a rare case of left developmental venous anomaly in a 59-year-old man referred to us with a six-month history of left-sided HFS. We performed an MR study of the brain and cerebellopontine angles, which demonstrated a compression of the ipsilateral facial nerve by the developmental venous anomaly. PMID:23859243

  5. The source of marine magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Harrison, Christopher G. A.

    1987-01-01

    The Vine-Matthews hypothesis (1963) is examined. This hypothesis suggests that oceanic rocks become polarized in the direction of the magnetic field at the time of their formation, thus recording the polarity history of the earth's magnetic field. This produces the lineated magnetic anomalies on either side of the midoceanic ridge crests. The strength of these magnetic anomalies is studied to determine the strength of magnetization. Indirect determinations of the magnetization intensity of the oceanic crust and direct observations of the oceanic crust are compared. It is found that the average magnetization of a 6-km thick oceanic crust is 1.18 A/m.

  6. Associated congenital anomalies among cases with Down syndrome.

    PubMed

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

    2015-12-01

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

  7. Detailed study of the Mare Crisium northern magnetic anomaly

    NASA Astrophysics Data System (ADS)

    Baek, Seul-Min; Kim, Khan-Hyuk; Garrick-Bethell, Ian; Jin, Ho; Lee, Hyo-Jeong; Lee, Jung-Kyu

    2017-02-01

    Low-altitude Lunar Prospector (LP) magnetometer data for Mare Crisium show two magnetic anomalies near its inner northern and southern edges. Because these features are located inside a basin, they were likely formed by slow cooling of the basin's melt, or the partially melted mantle, instead of by any impact-related shock magnetization process. Therefore, they are important for assessing the nature of the ancient dynamo field that produced them. In this study we confine our attention to the simpler northern anomaly (CNA) and use low-altitude (˜22 km) LP data to model its source body as a dipole and magnetized disks of different radii. We infer that the source is likely located ˜20-30 km from the surface and horizontally localized within a small region (<1° or <˜30 km radius). The surface field intensity calculated from the best fit dipole is in good agreement with that obtained from LP Electron Reflectometer data. Our magnetization directions are substantially different from two previous studies, largely due to using lower altitude data to perform our inversions. We also find a surprising sensitivity to small changes in source body latitude (˜1°). The magnetic paleopoles implied by our best fit models are distant from previous estimates by up to ˜50° of great circle arc and are substantially distant from the Moon's present rotation axis. Our results demonstrate how multiple altitude data sets must be used when estimating paleopoles and other properties of even the simplest of the Moon's magnetic anomalies.

  8. More on Ru Endemic Isotope Anomalies in Meteorites

    NASA Technical Reports Server (NTRS)

    Papanastassiou, D. A.; Chen, J. H.; Wasserburg, G. J.

    2004-01-01

    We reported last year on endemic isotope anomalies for Ru in iron meteorites, pallasites, ordinary chondrites, and on a whole-rock sample of Allende. We have extended the Ru measurements to more meteorites, to refractory Ca-Al-rich inclusions (CAI) from Allende, and to a whole rock sample of Murchison (CM2). In a companion abstract we report on new measurements for the Mo isotopes, in some of the same samples. There has been a renewed interest in searching for isotope anomalies in this nuclide region, as Ru and Mo include many isotopes from r-, s-, and p-process nucleosynhesis. Furthermore, the Ru and Mo p-process isotopes show atypically high abundances, which have been hard to explain through the standard nucleosynthetic processes. Effects are possible in Ru-98 and Ru-99 from Tc-98 (with a poorly known t(sub 1/2)=4.2 to 10Ma) and from Tc-99 (t(sub 1/2)=0.21Ma). Natural Tc is now extinct on Earth due to the short half-lives, but may have been present in the early solar system. Both radiogenic and general isotope anomalies are important in understanding the processes for the formation of the early solar system. The current emphasis on Ru and Mo is also the result of the development of Negative-ion Thermal Ionization Mass Spectrometry and of Multiple-Collector, Inductively-Coupled-Mass-Spectrometry. We have also developed specific chemical siparation techniques for Ru, which eliminated mass interference effects.

  9. Civil War vascular injuries.

    PubMed

    Blaisdell, F William

    2005-01-01

    As the result of the insistence of the Surgeon General during the United States Civil War, there was extensive documentation of injuries to major blood vessels and their resulting complications. The specific treatment of vascular injuries during the Civil War was ligation of the injured vessel or amputation. This was before there was any knowledge of the cause and prevention of infection. Overall, the results were dismal, with a mortality rate of nearly 60% for the more than 1000 soldiers treated by arterial ligation. The most important contribution of these medical reports was to define how the injuries should be diagnosed and managed. Many of the principles that developed as the result of this post-war review are as valid today as they were then. Unfortunately, it seems that many of these lessons have had to be relearned by the surgeons who have participated in each of our subsequent military conflicts.

  10. Vascular access for hemodialysis.

    PubMed

    Vanholder, R; Ringoir, S

    1994-04-01

    Indwelling central venous catheters were consecutively used as access for acute and chronic hemodialysis, emergency treatment of pulmonary fluid overload, intoxication and electrolyte disturbances, plasmapheresis, and semiacute continuous dialysis strategies, such as continuous arteriovenous hemofiltration (CAVH). Modification in catheter structure also made it possible to use this access for long-term treatment (e.g., surgically insertable catheters [Hickman], soft large-bore catheters for blind insertion). We discuss the remaining open questions in this field: Which is the insertion site of preference (i.e., subclavian, femoral, or deep jugular)? Should we prefer stiff or soft catheters? Should soft catheters be positioned surgically or is blind insertion by nonsurgeons as adequate? Is it necessary to couple catheter insertion to adjuvant techniques, such as echographic guidance, to reduce complications? Is the currently used polymer structure of the catheters acceptable? Should catheter dialysis be used with single or double vascular access?

  11. Vascularity in the reptilian spectacle.

    PubMed

    Mead, A W

    1976-07-01

    Vascularization of the spectacle or brille of the reptile was demonstrated by biomicroscopy, histology, fluorescein (in vivo), and Microfil silicone rubber (in situ) injections. This unusual vascularity provides new evidence for reassessment of the origin and development of this structure, and a useful tool with which to do so.

  12. Hybrid haemodialysis vascular access salvage.

    PubMed

    Potisek, Maja; Ključevšek, Tomaž; Leskovar, Boštjan

    2017-03-01

    A well-functioning vascular access is essential for successful haemodialysis in patients with end-stage kidney failure. Sometimes, when we have exploited all conventional ways of vascular access salvage, we have to find a unique solution to preserve it.

  13. [Banks of vascular homografts].

    PubMed

    Polvani, G L; Guarino, A; Pompilio, G; Parolari, A; Piccolo, G; Sala, A; Biglioli, P

    2001-01-01

    We define as Banking of the tissues all the procedures that include the finding, preparation, conservation and distribution of the homograft. The vascular homografts are taken and put into a solution of transportation at +4 degrees C and kept at this temperature till their arrival at the Bank. The following step is the dissection of the homograft which will have to be performed as quickly as possible at most 24 hours after the taking in conditions of maximum sterility. At the Italian Homograft Bank at Centro Cardiologico, the vascular homografts are kept at +4 degrees C for 96 hours on average with antibiotics. After a phase of sterilization at +4 degrees C the tissue is frozen according to a homogeneous and controlled thermic decrease and stored at -150 degrees C/-180 degrees C in fumes of liquid nitrogen till the moment of their employment allowing a long term conservation. The aim of all these procedures of cryopreservation is to keep the structural and functional integrity of cells and tissues. The thermic decrease of the tissues must occur so that to avoid all the damages of the cellular vitality and functionality and especially of the tissue structure in toto. In order to limitate these events some cryoprotector agents are employed because they reduce the concentration of the solutes, the cellular dehydration, the formation of micro-macro crystals. Another step to establish if the homograft is proper is the study of bacteriological and viral aspects. The viral screenings are performed on the donor's blood and the bacteriological tests are performed on the tissue and on the liquids. For each phase of the banking a series of information about the donor and about the tissues are recorded and filed both on paper and database so that to grant always a right conduct of the material.

  14. Effects of longwave cloud radiative forcing anomalies on the atmospheric response to equatorial Pacific sea surface temperature anomalies

    NASA Astrophysics Data System (ADS)

    Chen, Minghang; Cess, Robert D.; Zhang, Ming-Hua

    1995-07-01

    The latest version of the National Center for Atmospheric Research community climate model (CCM2) has been used to investigate cloud radiative forcing (CRF) anomalies associated with equatorial Pacific sea surface temperature (SST) anomalies and the effects of the longwave CRF (LWCRF) anomalies on the atmospheric response to the SST anomalies. The SST anomalies cause large CRF anomalies, both longwave and shortwave, as well as latent heat anomalies at low latitudes on a global scale. The relative magnitude of the simulated longwave and shortwave CRF anomalies is consistent with the result of the Earth Radiation Budget Experiment (ERBE), implying that cloud height and cloud radiative properties such as emissivity and reflectivity are well simulated by the model. The LWCRF anomaly strongly enhances the precipitation anomaly in the whole tropical belt. The positive (negative) LWCRF anomaly warms (cools) the troposphere and destabilizes (stabilizes) the upper troposphere. The LWCRF anomaly enhances the Southern Oscillation and the related Walker circulation anomaly. The effects of the LWCRF anomaly are essential to the northern hemispheric extratropical circulation anomaly, the Pacific/North American pattern.

  15. Optimal Vascular Access in the Elderly Patient

    PubMed Central

    Moist, Louise M.; Lok, Charmaine E.; Vachharajani, Tushar J.; Xi, Wang; AlJaishi, Ahmed; Polkinghorne, Kevan R; Lee, Timmy C.

    2014-01-01

    The optimal vascular access for elderly patients remains a challenge due to the difficulty balancing the benefits and risks in a population with increased comorbidity and decreased survival. Age is commonly associated with failure to mature in fistula and decreased rates of primary and secondary patency in both fistula and grafts. In the elderly, at 1 and 2-years, primary patency rates range from 43% to 74% and 29% to 67%, respectively. Secondary patency rates at 1 and 2-years range from 56% to 82% and 44% to 67% respectively. Cumulative fistula survival is no better than grafts survival when primary failures are included. Several observational studies consistently demonstrate a lower adjusted mortality among those using a fistula compared to a catheter (1–3)(1–3) however catheter use in the elderly is increasing in most countries with the exception of Japan. Both guidelines and quality initiatives do not acknowledge the trade-offs involved in managing the elderly patients with multiple chronic conditions and limited life expectancy or the value that patients place on achieving these outcomes(4)(4). The framework for choice of vascular access presented in this article considers: 1) likelihood of disease progression before death 2) patient life expectancy, 3) risks and benefits by vascular access type and 4) patient preference. Future studies evaluating the timing and type of vascular access with careful assessments of complications, functionality, cost benefit, and patients’ preference will provide relevant information to individualize and optimize care to improve morbidity, mortality, and quality of life in the elderly patient. PMID:23173892

  16. Vascular surgery: the European perspective.

    PubMed

    Harris, P

    1999-09-01

    Isaac Newton, among others, observed that 'we see so far because we are standing upon the shoulders of giants'. In vascular surgery most of the giants have been European, and this is a heritage which we as Europeans can take pride in and build upon if we chose to do so. As in other areas of life, commitment is essential in order to influence the future. For vascular surgeons in Europe this means active participation in the European scientific societies for vascular surgery and in the UEMS. The main value of the EBSQ.VASC assessments to date has been to expose the uneven standards of training in vascular surgery within the European Union. Only if action follows to address these inequalities will the tactics of the European Board of Vascular Surgery be vindicated.

  17. Caffeine's Vascular Mechanisms of Action

    PubMed Central

    Echeverri, Darío; Montes, Félix R.; Cabrera, Mariana; Galán, Angélica; Prieto, Angélica

    2010-01-01

    Caffeine is the most widely consumed stimulating substance in the world. It is found in coffee, tea, soft drinks, chocolate, and many medications. Caffeine is a xanthine with various effects and mechanisms of action in vascular tissue. In endothelial cells, it increases intracellular calcium stimulating the production of nitric oxide through the expression of the endothelial nitric oxide synthase enzyme. Nitric oxide is diffused to the vascular smooth muscle cell to produce vasodilation. In vascular smooth muscle cells its effect is predominantly a competitive inhibition of phosphodiesterase, producing an accumulation of cAMP and vasodilation. In addition, it blocks the adenosine receptors present in the vascular tissue to produce vasoconstriction. In this paper the main mechanisms of action of caffeine on the vascular tissue are described, in which it is shown that caffeine has some cardiovascular properties and effects which could be considered beneficial. PMID:21188209

  18. Imaging Spectrum of Hemangioma and Vascular Malformations of the Head and Neck in Children and Adolescents

    PubMed Central

    Bhat, Venkatraman; Salins, Paul C; Bhat, Varun

    2014-01-01

    Vascular lesions of the head and neck region in children constitute an interesting group of lesions that benefit immensely from imaging techniques. Imaging is essential for identification, characterization, and delineation of the extent of lesion and subsequent follow-up. Infantile hemangiomas, which are vascular tumors with a specific evolution pattern, constitute a large majority of these lesions. On the other hand, there are vascular malformations, which are anomalies of the vascular system, consisting of a range of vascular tissues associated with various flow patterns. When diagnosis is clinically evident, imaging should utilize non-radiation techniques and address the issues necessary for management. Timing and interpretation of imaging methods employed in assessing childhood vascular lesion should also take into consideration the natural history so that imaging is performed to address a specific question. This review highlights the typical appearance of a hemangioma and a group of vascular malformations of the head and neck. For descriptive purpose, an attempt has been made to group lesions into specific subsites, with each one having specific clinical significance. Cases included illustrate the spectrum of the disease ranging from classical form in young children to slightly differing manifestations of the disease in adolescents and adults. The illustrations also provide a novel way of presenting image data using volume-rendering techniques of 3D data. Multi-modality team interaction and management strategies of these complex lesions are also emphasized. PMID:25161800

  19. Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies

    PubMed Central

    Shukla, Dhirajkumar B; Jain, Akash; Jagtap, Swati S

    2014-01-01

    We are reporting a rare case of Complete Pentalogy of Cantrell (CPOC) with phocomelia and other associated anomalies such as encephalocoele, craniofacial defects, limb defects and a flexion deformity, with club foot in right lower limb. Antenatal ultrasonography done in a 20 year old primigravida revealed multiple thoraco-abdominal and CNS anomalies in a foetus with an average gestational age of 18.2 weeks. Foetal autopsy done following termination of the pregnancy revealed a combination of defects, based on which the diagnosis of Complete Pentalogy of Cantrell with associated anomalies was given. To the best of our knowledge, this is the first case of Complete Pentalogy of Cantrell with phocomelia which has been seen in the world. PMID:24995190

  20. Response of local vascular volumes to lower body negative pressure stress

    NASA Technical Reports Server (NTRS)

    Wolthuis, R. A.; Leblanc, A.; Carpentier, W. A.; Bergman, S. A., Jr.

    1975-01-01

    The present study involved an intravenous injection of radioactive iodinated serum albumin, equilibration of this isotope within the vascular space, and the continuous measurement of isotope activity over selected anatomical areas before, during and following multiple human LBNP tests. Both rate and magnitude of vascular pooling were distinctly different within each of five selected lower body anatomical areas. In the upper body, all areas except the abdomen showed depletions from their resting vascular volumes during LBNP. The presence of uniquely different pooling patterns in the lower body, the apparent stability of abdominal vascular volumes, and a possible decrease in cerebral blood volume during LBNP represent the major findings of this study.

  1. Radon anomaly in soil gas as an earthquake precursor.

    PubMed

    Miklavcić, I; Radolić, V; Vuković, B; Poje, M; Varga, M; Stanić, D; Planinić, J

    2008-10-01

    The mechanical processes of earthquake preparation are always accompanied by deformations; afterwards, the complex short- or long-term precursory phenomena can appear. Anomalies of radon concentrations in soil gas are registered a few weeks or months before many earthquakes. Radon concentrations in soil gas were continuously measured by the LR-115 nuclear track detectors at site A (Osijek) during a 4-year period, as well as by the Barasol semiconductor detector at site B (Kasina) during 2 years. We investigated the influence of the meteorological parameters on the temporal radon variations, and we determined the equation of the multiple regression that enabled the reduction (deconvolution) of the radon variation caused by the barometric pressure, rainfall and temperature. The pre-earthquake radon anomalies at site A indicated 46% of the seismic events, on criterion M>or=3, R<200 km, and 21% at site B. Empirical equations between earthquake magnitude, epicenter distance and precursor time enabled estimation or prediction of an earthquake that will rise at the epicenter distance R from the monitoring site in expecting precursor time T.

  2. Interpretation of long- and short-wavelength magnetic anomalies

    USGS Publications Warehouse

    DeNoyer, John M.; Barringer, Anthony R.

    1980-01-01

    Magset was launched on October 30, 1979. More than a decade of examining existing data, devising appropriate models of the global magnetic field, and extending methods for interpreting long-wavelength magnetic anomalies preceded this launch Magnetic data collected by satellite can be interrupted by using a method of analysis that quantitively describes the magnetic field resulting from three-dimensional geologic structures that are bounded by an arbitrary number of polygonal faces, Each face my have any orientation and three or more sides. At each point of the external field, the component normal to each face is obtained by using an expression for the solid angle subtended by a generalized polygon. The "cross" of tangential components are relatively easy to obtain for the same polygons. No approximations have been made related to orbit height that restrict the dimensions of the polygons relative to the distance from the external field points. This permits the method to be used to model shorter wavelength anomalies obtained from aircraft or ground surveys. The magnetic fields for all the structures considered are determine in the same rectangular coordinate system. The coordinate system is in depended from the orientation of geologic trends and permits multiple structures or bodies to be included in the same magnetic field calculations. This single reference system also simplified adjustments in position and direction to account for earth curvature in regional interpretation.

  3. Citicoline in vascular cognitive impairment and vascular dementia after stroke.

    PubMed

    Alvarez-Sabín, Jose; Román, Gustavo C

    2011-01-01

    Cognitive decline after stroke is more common than stroke recurrence. Stroke doubles the risk of dementia and is a major contributor to vascular cognitive impairment and vascular dementia. Neuropathological studies in most cases of dementia in the elderly reveal a large load of vascular ischemic brain lesions mixed with a lesser contribution of neurodegenerative lesions of Alzheimer disease. Nonetheless, few pharmacological studies have addressed vascular cognitive impairment and vascular dementia after stroke. Citicoline has demonstrated neuroprotective effects in acute stroke and has been shown to improve cognition in patients with chronic cerebrovascular disease and in some patients with Alzheimer disease. A recent trial lasting 6 months in patients with first-ever ischemic stroke showed that citicoline prevented cognitive decline after stroke with significant improvement of temporal orientation, attention, and executive function. Experimentally, citicoline exhibits neuroprotective effects and enhances neural repair. Citicoline appears to be a safe and promising alternative to improve stroke recovery and could be indicated in patients with vascular cognitive impairment, vascular dementia, and Alzheimer disease with significant cerebrovascular disease.

  4. Arterial vascularization patterns of the splenium: An anatomical study.

    PubMed

    Kahilogullari, G; Comert, A; Ozdemir, M; Brohi, R A; Ozgural, O; Esmer, A F; Egemen, N; Karahan, S T

    2013-09-01

    The aim of this study was to provide detailed information about the arterial vascularization of the splenium of the corpus callosum (CC). The splenium is unique in that it is part of the largest commissural tract in the brain and a region in which pathologies are seen frequently. An exact description of the arterial vascularization of this part of the CC remains under debate. Thirty adult human brains (60 hemispheres) were obtained from routine autopsies. Cerebral arteries were separately cannulated and injected with colored latex. Then, the brains were fixed in formaldehyde, and dissections were performed using a surgical microscope. The diameter of the arterial branches supplying the splenium of the CC at their origin was investigated, and the vascularization patterns of these branches were observed. Vascular supply to the splenium was provided by the anterior pericallosal artery (40%) from the anterior circulation and by the posterior pericallosal artery (88%) and posterior accessory pericallosal artery (50%) from the posterior circulation. The vascularization pattern of the splenium differs in each hemisphere and is usually supplied by multiple branches. The arterial vascularization of the splenium of the CC was studied comprehensively considering the ongoing debate and the inadequacy of the studies on this issue currently available in the literature. This anatomical knowledge is essential during the treatment of pathologies in this region and especially for splenial arteriovenous malformations.

  5. TIME SERIES ANALYSIS OF REMOTELY-SENSED TIR EMISSION: linking anomalies to physical processes

    NASA Astrophysics Data System (ADS)

    Pavlidou, E.; van der Meijde, M.; Hecker, C.; van der Werff, H.; Ettema, J.

    2013-12-01

    In the last 15 years, remote sensing has been evaluated for detecting thermal anomalies as precursor to earthquakes. Important issues that need yet to be tackled include definition of: (a) thermal anomaly, taking into account weather conditions, observation settings and ';natural' variability caused by background sources (b) the length of observations required for this purpose; and (c) the location of detected anomalies, which should be physically related to the tectonic activity. To determine whether thermal anomalies are statistical noise, mere meteorological conditions, or actual earthquake-related phenomena, we apply a novel approach. We use brightness temperature (top-of-atmosphere) data from thermal infrared imagery acquired at a hypertemporal (sub-hourly) interval, from geostationary weather satellites over multiple years. The length of the time series allows for analysis of meteorological effects (diurnal, seasonal or annual trends) and background variability, through the application of a combined spatial and temporal filter to distinguish extreme occurrences from trends. The definition of potential anomalies is based on statistical techniques, taking into account published (geo)physical characteristics of earthquake related thermal anomalies. We use synthetic data to test the performance of the proposed detection method and track potential factors affecting the results. Subsequently, we apply the method on original data from Iran and Turkey, in quiescent and earthquake-struck periods alike. We present our findings with main focus to assess resulting anomalies in relation to physical processes thereby considering: (a) meteorological effects, (b) the geographical, geological and environmental settings, and (c) physically realistic distances and potential physical relations with the activity of causative faults.

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

    NASA Technical Reports Server (NTRS)

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

    2000-01-01

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

  7. Incretin-Based Therapy for Prevention of Diabetic Vascular Complications

    PubMed Central

    Mima, Akira

    2016-01-01

    Diabetic vascular complications are the most common cause of mortality and morbidity worldwide, with numbers of affected individuals steadily increasing. Diabetic vascular complications can be divided into two categories: macrovascular andmicrovascular complications. Macrovascular complications include coronary artery diseaseand cerebrovascular disease, while microvascular complications include retinopathy and chronic kidney disease. These complications result from metabolic abnormalities, including hyperglycemia, elevated levels of free fatty acids, and insulin resistance. Multiple mechanisms have been proposed to mediate the adverse effects of these metabolic disorders on vascular tissues, including stimulation of protein kinase C signaling and activation of the polyol pathway by oxidative stress and inflammation. Additionally, the loss of tissue-specific insulin signaling induced by hyperglycemia and toxic metabolites can induce cellular dysfunction and both macro- and microvascular complications characteristic of diabetes. Despite these insights, few therapeutic methods are available for the management of diabetic complications. Recently, incretin-based therapeutic agents, such as glucagon-like peptide-1 and dipeptidyl peptidase-4 inhibitors, have been reported to elicit vasotropic actions, suggesting a potential for effecting an actual reduction in diabetic vascular complications. The present review will summarize the relationship between multiple adverse biological mechanisms in diabetes and putative incretin-based therapeutic interventions intended to prevent diabetic vascular complications. PMID:26881236

  8. Do retractile testes have anatomical anomalies?

    PubMed Central

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

    2016-01-01

    ABSTRACT Objectives: To assess the incidence of anatomical anomalies in patients with retractile testis. Materials and Methods: We studied prospectively 20 patients (28 testes) with truly retractile testis and compared them with 25 human fetuses (50 testes) with testis in scrotal position. We analyzed the relations among the testis, epididymis and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis, we used a previous classification according to epididymis attachment to the testis and the presence of epididymis atresia. To analyze the structure of the PV, we considered two situations: obliteration of the PV and patency of the PV. We used the Chi-square test for contingency analysis of the populations under study (p <0.05). Results: The fetuses ranged in age from 26 to 35 weeks post-conception (WPC) and the 20 patients with retractile testis ranged in ages from 1 to 12 years (average of 5.8). Of the 50 fetal testes, we observed complete patency of the PV in 2 cases (4%) and epididymal anomalies (EAs) in 1 testis (2%). Of the 28 retractile testes, we observed patency of the PV in 6 cases (21.4%) and EA in 4 (14.28%). When we compared the incidence of EAs and PV patency we observed a significantly higher prevalence of these anomalies in retractile testes (p=0.0116). Conclusions: Retractile testis is not a normal variant with a significant risk of patent processus vaginalis and epididymal anomalies. PMID:27564294

  9. The "parity" anomaly on an unorientable manifold

    NASA Astrophysics Data System (ADS)

    Witten, Edward

    2016-11-01

    The "parity" anomaly—more accurately described as an anomaly in time-reversal or reflection symmetry—arises in certain theories of fermions coupled to gauge fields and/or gravity in a spacetime of odd dimension. This anomaly has traditionally been studied on orientable manifolds only, but recent developments involving topological superconductors have made it clear that one can get more information by asking what happens on an unorientable manifold. In this paper, we give a full description of the "parity" anomaly for fermions coupled to gauge fields and gravity in 2 +1 dimensions on a possibly unorientable spacetime. We consider an application to topological superconductors and another application to M theory. The application to topological superconductors involves using knowledge of the "parity" anomaly as an ingredient in constructing gapped boundary states of these systems and in particular in gapping the boundary of a ν =16 system in a topologically trivial fashion. The application to M theory involves showing the consistency of the path integral of an M theory membrane on a possibly unorientable worldvolume. In the past, this has been done only in the orientable case.

  10. Kohn anomaly in phonon driven superconductors

    NASA Astrophysics Data System (ADS)

    Das, M. P.; Chaudhury, R.

    2014-08-01

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

  11. The mineralogy of global magnetic anomalies

    NASA Technical Reports Server (NTRS)

    Haggerty, S. E. (Principal Investigator)

    1982-01-01

    The Curie Balance was brought to operational stage and is producing data of a preliminary nature. Substantial problems experienced in the assembly and initial operation of the instrument were, for the most part, rectified, but certain problems still exist. Relationships between the geology and the gravity and MAGSAT anomalies of West Africa are reexamined in the context of a partial reconstruction of Gondwanaland.

  12. Contextual Detection of Anomalies within Hyperspectral Images

    DTIC Science & Technology

    2011-03-01

    Hyperspectral Imagery (HSI), Unsupervised Target Detection, Target Identification, Contextual Anomaly Detection 16. SECURITY CLASSIFICATION OF: 17. LIMITATION...processing. Hyperspectral imaging has a wide range of applications within remote sensing, not limited to terrain classification , environmental monitoring...Johnson, R. J. (2008). Improved feature extraction, feature selection, and identification techniques that create a fast unsupervised hyperspectral

  13. Congenital anomalies of kidney and urinary tract.

    PubMed

    Toka, Hakan R; Toka, Okan; Hariri, Ali; Nguyen, Hiep T

    2010-07-01

    Congenital anomalies of the kidney and urinary tract anatomy (CAKUT) are common in children and represent approximately 30% of all prenatally diagnosed malformations. CAKUT is phenotypically variable and can affect the kidney(s) alone and/or the lower urinary tract. The spectrum includes more common anomalies such as vesicoureteral reflux and, rarely, more severe malformations such as bilateral renal agenesis. In young children, congenital anomalies are the leading cause of kidney failure and for kidney transplantation or dialysis. CAKUT can also lead to significant renal problems in adulthood and may present itself with hypertension and/or proteinuria. Congenital renal anomalies can be sporadic or familial, syndromic (also affecting nonrenal or non-urinary tract tissues), or nonsyndromic. Genetic causes have been identified for the syndromic forms and have shed some light into the molecular mechanisms of kidney development in human beings. The genetic causes for the more common nonsyndromic forms of CAKUT are unknown. The role of prenatal interventions and postnatal therapies as well as the benefits of screening affected individuals and their family members are not clear.

  14. Newborn with Gastroschisis associated with Limb Anomalies

    PubMed Central

    Win, Phyu Phyu

    2017-01-01

    Gastroschisis is often found together with other extra intestinal conditions such as limb, spine, cardiac, central nervous system and genitourinary abnormalities. There are reports of its association with young maternal age. The cases presented here highlight the association of gastroschisis with limbs anomalies and young maternal age. PMID:28083494

  15. The Coulomb Anomaly in Strongly Disordered Films

    DTIC Science & Technology

    1992-01-01

    The strength of this anomaly grows with increasing sheet resistance , R(sub n), at low R(sub n) but saturates at high R(sub n). We suggest that the granular morphology of these films is responsible for the saturation. (Author)

  16. Consistent gravitational anomalies for chiral bosons

    SciTech Connect

    Giaccari, Stefano; Menotti, Pietro

    2009-03-15

    Exact consistent gravitational anomalies for chiral bosons in two dimensions are treated both with the Schwinger-DeWitt regularization and independently through a cohomological procedure. The diffeomorphism transformations are described by a single ghost which allows one to climb the cohomological chain in a unique way.

  17. Anomaly Recovery and the Mars Exploration Rovers

    NASA Technical Reports Server (NTRS)

    Matijevic, Jacob R.; Dewell, Elizabeth A.

    2006-01-01

    The premise of the design of operations for the Mars Exploration Rovers (MER) is that the vehicles will drive each day. As a result, they will encounter some aspect of the terrain environment that cannot be anticipated or otherwise accommodated by the sequences linked onboard that day. The operations team then must correct the problem by planning then commanding the execution of a different drive the next day. Often other aspects of the operation on the surface of Mars: environmental changes, component degradation, errors in sequence design or execution, etc., lead to anomalies which must be addressed before normal operations can resume. The operational design that makes it possible to recover from a driving error each day also reduces the time needed to recover from anomalies. As an example of the efficiency achieved, less than 5% (about 30 sols out of 700 sols of operations) of the time on the surface has been devoted to recovery from anomalies for each vehicle. In this paper the major anomalies experienced by the MER rovers will be recounted and the streamlined approaches to addressing these problems described. The operational flexibility developed for these missions is also a function of the system design that anticipated a number of likely faults and conditions arising from uncertainty in sequence execution and environmental change. This design will be described as well as the considerations in operation that motivated this design. These considerations will likely be present in any future surface mission.

  18. Trace anomaly and counterterms in designer gravity

    NASA Astrophysics Data System (ADS)

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

    2016-03-01

    We construct concrete counterterms of the Balasubramanian-Kraus type for Einstein-scalar theories with designer gravity boundary conditions in AdS4, so that the total action is finite on-shell and satisfy a well defined variational principle. We focus on scalar fields with the conformal mass m 2 = -2 l -2 and show that the holographic mass matches the Hamiltonian mass for any boundary conditions. We compute the trace anomaly of the dual field theory in the generic case, as well as when there exist logarithmic branches of non-linear origin. As expected, the anomaly vanishes for the boundary conditions that are AdS invariant. When the anomaly does not vanish, the dual stress tensor describes a thermal gas with an equation of state related to the boundary conditions of the scalar field. In the case of a vanishing anomaly, we recover the dual theory of a massless thermal gas. As an application of the formalism, we consider a general family of exact hairy black hole solutions that, for some particular values of the parameters in the moduli potential, contains solutions of four-dimensional gauged {N}=8 supergravity and its ω-deformation. Using the AdS/CFT duality dictionary, they correspond to triple trace deformations of the dual field theory.

  19. Ebstein anomaly review: what's now, what's next?

    PubMed

    Dearani, Joseph A; Mora, Bassem N; Nelson, Timothy J; Haile, Dawit T; O'Leary, Patrick W

    2015-10-01

    Ebstein anomaly accounts for 1% of all congenital heart disease. It is a right ventricular myopathy with failure of tricuspid valve delamination and highly variable tricuspid valve morphology that usually results in severe regurgitation. It is the only congenital heart lesion that has a range of clinical presentations, from the severely symptomatic neonate to an asymptomatic adult. Neonatal operation has high operative mortality, whereas operation performed beyond infancy and into adulthood has low operative mortality. Late survival and quality of life for hospital survivors are excellent for the majority of patients in all age brackets. Atrial tachyarrhythmias are the most common late complication. There have been more techniques of tricuspid repair reported in the literature than any other congenital or acquired cardiac lesion. This is largely due to the infinite anatomic variability encountered with this anomaly. The cone reconstruction of Ebstein anomaly can achieve near anatomic restoration of the tricuspid valve anatomy. Early and intermediate results with these repairs are promising. Reduced right ventricular function continues to be a challenge for some patients, as is the need for reoperation for recurrent tricuspid regurgitation. The purpose of this article is to outline the current standard of care for diagnosis and treatment of Ebstein anomaly and describe innovative strategies to address poor right ventricular function and associated right-sided heart failure.

  20. Group actions and anomalies in gauge theories

    NASA Astrophysics Data System (ADS)

    Catenacci, R.; Pirola, G. P.; Martellini, Maurizio; Reina, Cesare

    1986-05-01

    The transformation properties are studied of the vacuum functional W(A) for chiral fermions in a gauge potential A under the group A×U(1)×R+ of gauge, chiral and scale transformations. The vacuum functional W is identified with a section of a G×U(1)×R+ line bundle over the space A of all gauge potentials. Known results on bundles carrying group actions give a simple and unifying clue to non-abelian, abelian chiral anomalies, as well as to trace anomalies. While the first are due to the twisting of a line bundle on A/G, the abelian chiral and trace anomalies are related to characters of U(1) and R+ respectively. Characters of U(1) are basically controlled by ``winding numbers'', i.e. again by topology. Opposite to these, trace anomalies seem to have little to do with topology, with the exception of two-dimensional theories. Also at Gruppo Nazionale di Fisica Matematica, CNR.

  1. Anomaly Detection Techniques for Ad Hoc Networks

    ERIC Educational Resources Information Center

    Cai, Chaoli

    2009-01-01

    Anomaly detection is an important and indispensable aspect of any computer security mechanism. Ad hoc and mobile networks consist of a number of peer mobile nodes that are capable of communicating with each other absent a fixed infrastructure. Arbitrary node movements and lack of centralized control make them vulnerable to a wide variety of…

  2. The anomaly data base of screwworm information

    NASA Technical Reports Server (NTRS)

    Giddings, L. E.

    1976-01-01

    Standard statistical processing of anomaly data in the screwworm eradication data system is possible from data compiled on magnetic tapes with the Univac 1108 computer. The format and organization of the data in the data base, which is also available on dedicated disc storage, are described.

  3. Gravitational anomalies in the solar system?

    NASA Astrophysics Data System (ADS)

    Iorio, Lorenzo

    2015-02-01

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

  4. Hyperspectral anomaly detection using enhanced global factors

    NASA Astrophysics Data System (ADS)

    Paciencia, Todd J.; Bauer, Kenneth W.

    2016-05-01

    Dimension reduction techniques have become one popular unsupervised approach used towards detecting anomalies in hyperspectral imagery. Although demonstrating promising results in the literature on specific images, these methods can become difficult to directly interpret and often require tuning of their parameters to achieve high performance on a specific set of images. This lack of generality is also compounded by the need to remove noise and atmospheric absorption spectral bands from the image prior to detection. Without a process for this band selection and to make the methods adaptable to different image compositions, performance becomes difficult to maintain across a wider variety of images. Here, we present a framework that uses factor analysis to provide a robust band selection and more meaningful dimension reduction with which to detect anomalies in the imagery. Measurable characteristics of the image are used to create an automated decision process that allows the algorithm to adjust to a particular image, while maintaining high detection performance. The framework and its algorithms are detailed, and results are shown for forest, desert, sea, rural, urban, anomaly-sparse, and anomaly-dense imagery types from different sensors. Additionally, the method is compared to current state-of-the-art methods and is shown to be computationally efficient.

  5. Hyperspectral Anomaly Detection by Graph Pixel Selection.

    PubMed

    Yuan, Yuan; Ma, Dandan; Wang, Qi

    2016-12-01

    Hyperspectral anomaly detection (AD) is an important problem in remote sensing field. It can make full use of the spectral differences to discover certain potential interesting regions without any target priors. Traditional Mahalanobis-distance-based anomaly detectors assume the background spectrum distribution conforms to a Gaussian distribution. However, this and other similar distributions may not be satisfied for the real hyperspectral images. Moreover, the background statistics are susceptible to contamination of anomaly targets which will lead to a high false-positive rate. To address these intrinsic problems, this paper proposes a novel AD method based on the graph theory. We first construct a vertex- and edge-weighted graph and then utilize a pixel selection process to locate the anomaly targets. Two contributions are claimed in this paper: 1) no background distributions are required which makes the method more adaptive and 2) both the vertex and edge weights are considered which enables a more accurate detection performance and better robustness to noise. Intensive experiments on the simulated and real hyperspectral images demonstrate that the proposed method outperforms other benchmark competitors. In addition, the robustness of the proposed method has been validated by using various window sizes. This experimental result also demonstrates the valuable characteristic of less computational complexity and less parameter tuning for real applications.

  6. Psychoeducational Implications of Sex Chromosome Anomalies

    ERIC Educational Resources Information Center

    Wodrich, David L.; Tarbox, Jennifer

    2008-01-01

    Numerous anomalies involving the sex chromosomes (X or Y) have been documented and their impact on development, learning, and behavior studied. This article reviews three of these disorders, Turner syndrome, Klinefelter syndrome, and Lesch-Nyhan disease. Each of these three is associated with one or more selective impairments or behavioral…

  7. Resolving the Cassini/Huygens relay anomaly

    NASA Technical Reports Server (NTRS)

    Deutsch, L. J.

    2002-01-01

    A test using NASA's DSN to mimic the probe's signal was performed in 2000 and uncovered an anomaly that, unchecked, would result in nearly complete loss of the Huygens mission. This led to a suggested modification to the Cassini trajectory that will result in nearly complete data return for Huygens with minimal impact on Cassini.

  8. Day-to-day variability of the global post-sunset equatorial ionization anomaly

    NASA Astrophysics Data System (ADS)

    Coker, Clayton; Dymond, Kenneth; Budzien, Scott; Chua, Damien

    We report global observations of the daily variability of the post-sunset Equatorial Ionization Anomaly (EIA). Multiple Tiny Ionospheric Photometer (TIP) sensors on the Constellation Ob-serving System for Meteorology, Ionosphere, and Climate (COSMIC) constellation are used to produce high resolution maps the global pattern of the post-sunset equatorial anomaly for indi-vidual days. TIP is a compact, nadir directed, ultraviolet photometer operating at the 135.6-nm wavelength. TIP measures the horizontal structure of the ionosphere with 15-30 km resolution and high sensitivity. For the near solar minimum condition and equinox period of Septem-ber 2006, evidence of tidal influences is observed in the equatorial anomaly. The day-to-day persistence of the 4-cell pattern produced by the diurnal eastward zonal wavenumber-3 (DE3) tide is remarkable. The daily 4-cell patterns display more dramatic variation in the equatorial anomaly than indicated by earlier studies using multi-day averages. In some longitude sectors the anomaly disappears completely on some days. The crest width is also much narrower than indicated by multi-day averages of the 4-cell pattern. Additionally, daily variations in magni-tude of individual cells are observed and appear to occur on hemispheric scales, suggesting a large scale day-to-day variability in the global neutral wind pattern. Finally, the impact of this daily variability on low latitude irregularity development and scintillation is examined.

  9. Improving Cyber-Security of Smart Grid Systems via Anomaly Detection and Linguistic Domain Knowledge

    SciTech Connect

    Ondrej Linda; Todd Vollmer; Milos Manic

    2012-08-01

    The planned large scale deployment of smart grid network devices will generate a large amount of information exchanged over various types of communication networks. The implementation of these critical systems will require appropriate cyber-security measures. A network anomaly detection solution is considered in this work. In common network architectures multiple communications streams are simultaneously present, making it difficult to build an anomaly detection solution for the entire system. In addition, common anomaly detection algorithms require specification of a sensitivity threshold, which inevitably leads to a tradeoff between false positives and false negatives rates. In order to alleviate these issues, this paper proposes a novel anomaly detection architecture. The designed system applies the previously developed network security cyber-sensor method to individual selected communication streams allowing for learning accurate normal network behavior models. Furthermore, the developed system dynamically adjusts the sensitivity threshold of each anomaly detection algorithm based on domain knowledge about the specific network system. It is proposed to model this domain knowledge using Interval Type-2 Fuzzy Logic rules, which linguistically describe the relationship between various features of the network communication and the possibility of a cyber attack. The proposed method was tested on experimental smart grid system demonstrating enhanced cyber-security.

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

    PubMed

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

    2008-01-01

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

  11. Vascular endothelial dysfunction and pharmacological treatment

    PubMed Central

    Su, Jin Bo

    2015-01-01

    The endothelium exerts multiple actions involving regulation of vascular permeability and tone, coagulation and fibrinolysis, inflammatory and immunological reactions and cell growth. Alterations of one or more such actions may cause vascular endothelial dysfunction. Different risk factors such as hypercholesterolemia, homocystinemia, hyperglycemia, hypertension, smoking, inflammation, and aging contribute to the development of endothelial dysfunction. Mechanisms underlying endothelial dysfunction are multiple, including impaired endothelium-derived vasodilators, enhanced endothelium-derived vasoconstrictors, over production of reactive oxygen species and reactive nitrogen species, activation of inflammatory and immune reactions, and imbalance of coagulation and fibrinolysis. Endothelial dysfunction occurs in many cardiovascular diseases, which involves different mechanisms, depending on specific risk factors affecting the disease. Among these mechanisms, a reduction in nitric oxide (NO) bioavailability plays a central role in the development of endothelial dysfunction because NO exerts diverse physiological actions, including vasodilation, anti-inflammation, antiplatelet, antiproliferation and antimigration. Experimental and clinical studies have demonstrated that a variety of currently used or investigational drugs, such as angiotensin-converting enzyme inhibitors, angiotensin AT1 receptors blockers, angiotensin-(1-7), antioxidants, beta-blockers, calcium channel blockers, endothelial NO synthase enhancers, phosphodiesterase 5 inhibitors, sphingosine-1-phosphate and statins, exert endothelial protective effects. Due to the difference in mechanisms of action, these drugs need to be used according to specific mechanisms underlying endothelial dysfunction of the disease. PMID:26635921

  12. Topological orders with global gauge anomalies

    NASA Astrophysics Data System (ADS)

    You, Yi-Zhuang; Xu, Cenke

    2015-08-01

    By definition, the physics of the d -dimensional (dim) boundary of a (d +1 ) -dim symmetry protected topological (SPT) state cannot be realized as itself on a d -dim lattice. If the symmetry of the system is unitary, then a formal way to determine whether a d -dim theory must be a boundary or not, is to couple this theory to a gauge field (or to "gauge" its symmetry), and check if there is a gauge anomaly. In this paper we discuss the following question: Can the boundary of a SPT state be driven into a fully gapped topological order which preserves all the symmetries? We argue (conjecture) that if the gauge anomaly of the boundary is "perturbative," then the boundary must remain gapless; while if the boundary only has global gauge anomaly but no perturbative anomaly, then it is possible to gap out the boundary by driving it into a topological state, when d ≥2 . We will demonstrate this conjecture with two examples: (1) the 3 d spin-1/2 chiral fermion with the well-known Witten's global anomaly [Phys. Lett. 117, 324 (1982), 10.1016/0370-2693(82)90728-6], which can be realized on the boundary of a 4 d topological superconductor with SU(2) or U (1 ) ⋊Z2 symmetry; and (2) the 4 d boundary of a 5 d topological superconductor with the same symmetry. We show that these boundary systems can be driven into a fully gapped Z2 N topological order with topological degeneracy, but this Z2 N topological order cannot be future driven into a trivial confined phase that preserves all the symmetries due to some special properties of its topological defects. Our study also leads to exotic states of matter in pure 3 d space.

  13. The use of vascular access audit and infections in home hemodialysis.

    PubMed

    Rousseau-Gagnon, Mathieu; Faratro, Rose; D'Gama, Celine; Fung, Stella; Wong, Elizabeth; Chan, Christopher T

    2016-04-01

    Vascular access-related infection is an important adverse event in home hemodialysis (HHD). We hypothesize that errors in self-cannulation or manipulation of dialysis vascular access are associated with increased incidence of access-related infection. We conducted a retrospective cohort study of all prevalent HHD patients at the University Health Network. All vascular access-related infections were recorded from 2006 to 2013. Errors in dialysis access were ascertained by nurse-administered vascular access checklist. Ninety-two patients had completed at least one vascular access audit. Median HHD vintage was 2.3 (0.9-5.0) years in patients with appropriate vascular access technique and 5.8 (1.5-9.4) years in patients with erroneous vascular access technique. The overall rate of infection between patients with and without appropriate vascular access technique was similar (0.27 and 0.28 infections per year, P = 0.166). Among patients who were identified with errors in dialysis access manipulation, patients with five or more errors were associated with higher rate of access-related infection (mean of 0.47 vs. 0.16 infection per patient-year, P < 0.001). The use of vascular access audit is a feasible strategy, which can identify errors in vascular access technique. Patients with a longer median HHD vintage are associated with higher risk of inappropriate vascular access technique. Patients with multiple errors in vascular access technique are associated with a higher risk of dialysis access-related infection. Prospective evaluation of the impact of vascular access audit on adverse vascular access events is warranted.

  14. Cyclosporin A Disrupts Notch Signaling and Vascular Lumen Maintenance

    PubMed Central

    Pandey, Raghav; Botros, Mark A.; Nacev, Benjamin A.; Albig, Allan R.

    2015-01-01

    Cyclosporin A (CSA) suppresses immune function by blocking the cyclophilin A and calcineurin/NFAT signaling pathways. In addition to immunosuppression, CSA has also been shown to have a wide range of effects in the cardiovascular system including disruption of heart valve development, smooth muscle cell proliferation, and angiogenesis inhibition. Circumstantial evidence has suggested that CSA might control Notch signaling which is also a potent regulator of cardiovascular function. Therefore, the goal of this project was to determine if CSA controls Notch and to dissect the molecular mechanism(s) by which CSA impacts cardiovascular homeostasis. We found that CSA blocked JAG1, but not Dll4 mediated Notch1 NICD cleavage in transfected 293T cells and decreased Notch signaling in zebrafish embryos. CSA suppression of Notch was linked to cyclophilin A but not calcineurin/NFAT inhibition since N-MeVal-4-CsA but not FK506 decreased Notch1 NICD cleavage. To examine the effect of CSA on vascular development and function, double transgenic Fli1-GFP/Gata1-RFP zebrafish embryos were treated with CSA and monitored for vasculogenesis, angiogenesis, and overall cardiovascular function. Vascular patterning was not obviously impacted by CSA treatment and contrary to the anti-angiogenic activity ascribed to CSA, angiogenic sprouting of ISV vessels was normal in CSA treated embryos. Most strikingly, CSA treated embryos exhibited a progressive decline in blood flow that was associated with eventual collapse of vascular luminal structures. Vascular collapse in zebrafish embryos was partially rescued by global Notch inhibition with DAPT suggesting that disruption of normal Notch signaling by CSA may be linked to vascular collapse. However, multiple signaling pathways likely cause the vascular collapse phenotype since both cyclophilin A and calcineurin/NFAT were required for normal vascular function. Collectively, these results show that CSA is a novel inhibitor of Notch signaling and

  15. Extra-hepatic anomalies in infants with biliary atresia: results of a large prospective North American multi-center study

    PubMed Central

    Schwarz, Kathleen B; Haber, Barbara H; Rosenthal, Philip; Mack, Cara L; Moore, Jeffrey; Bove, Kevin E; Bezerra, Jorge A; Karpen, Saul J; Kerkar, Nanda; Shneider, Benjamin L; Turmelle, Yumirle P; Whitington, Peter F; Molleston, Jean P; Murray, Karen F; Ng, Vicky L; Romero, René; Wang, Kasper S; Sokol, Ronald J; Magee, John C

    2013-01-01

    Background and aims The etiology of biliary atresia (BA) is unknown. Given that patterns of anomalies might provide etiopathogenetic clues, we utilized data from the North American Childhood Liver Disease Research and Education Network to analyze patterns of anomalies in infants with BA. Methods Two hundred eighty-nine infants who were enrolled into the prospective database prior to surgery at any of 15 centers participating were evaluated. Results Group 1 was non-syndromic, isolated BA (without major malformations) (n = 242, 84 %), Group 2 was BA and at least one malformation considered major as defined by the National Birth Defects Prevention Study but without laterality defects (n = 17, 6%). Group 3 was syndromic, with laterality defects (n = 30, 10%). In the population as a whole, anomalies (either major or minor) were most prevalent in the cardiovascular (16%) and gastrointestinal (14%) systems. Group 3 patients accounted for the majority of subjects with cardiac, gastrointestinal and splenic anomalies. Group 2 subjects also frequently displayed cardiovascular (71%) and gastrointestinal (24 %) anomalies; interestingly this group had genitourinary anomalies more frequently (47%) compared to Group 3 subjects (10%). Conclusions This study identified a group of BA (Group 2) that differed from the classical syndromic and non-syndromic groups and that was defined by multiple malformations without laterality defects. Careful phenotyping of the patterns of anomalies may be critical to the interpretation of both genetic and environmental risk factors associated with BA, allowing new insight into pathogenesis and/or outcome. PMID:23703680

  16. Vascular parkinsonism: Deconstructing a syndrome

    PubMed Central

    Vizcarra, Joaquin A.; Lang, Anthony E.; Sethi, Kapil D; Espay, Alberto J.

    2015-01-01

    Progressive ambulatory impairment and abnormal white matter signal on neuroimaging come together under the diagnostic umbrella of vascular parkinsonism. A critical appraisal of the literature, however, suggests that (1) no abnormal structural imaging pattern is specific to vascular parkinsonism; (2) there is poor correlation between brain magnetic resonance imaging hyperintensities and microangiopathic brain disease and parkinsonism from available clinicopathologic data; (3) pure parkinsonism from vascular injury (“definite” vascular parkinsonism) consistently results from ischemic or hemorrhagic strokes involving the substantia nigra and/or nigrostriatal pathway but sparing the striatum itself, the cortex, and the intervening white matter; and (4) many cases reported as vascular parkinsonism may represent pseudovascular parkinsonism (e.g., Parkinson disease or another neurodegenerative parkinsonism such as progressive supranuclear palsy with non-specific neuroimaging signal abnormalities), vascular pseudoparkinsonism (e.g., akinetic mutism due to bilateral mesial frontal strokes or apathetic depression from bilateral striatal lacunar strokes), or pseudovascular pseudoparkinsonism (e.g., higher-level gait disorders, including normal pressure hydrocephalus with transependimal exudate). These syndromic designations are preferable over vascular parkinsonism until pathology or validated biomarkers confirm the underlying nature and relevance of the leukoaraiosis. PMID:25997420

  17. Vascular access in oncology patients.

    PubMed

    Gallieni, Maurizio; Pittiruti, Mauro; Biffi, Roberto

    2008-01-01

    Adequate vascular access is of paramount importance in oncology patients. It is important in the initial phase of surgical treatment or chemotherapy, as well as in the chronic management of advanced cancer and in the palliative care setting. We present an overview of the available vascular access devices and of the most relevant issues regarding insertion and management of vascular access. Particular emphasis is given to the use of ultrasound guidance as the preferred technique of insertion, which has dramatically decreased insertion-related complications. Vascular access management has considerably improved after the publication of effective guidelines for the appropriate nursing of the vascular device, which has reduced the risk of late complications, such as catheter-related bloodstream infection. However, many areas of clinical practice are still lacking an evidence-based background, such as the choice of the most appropriate vascular access device in each clinical situation, as well as prevention and treatment of thrombosis. We suggest an approach to the choice of the most appropriate vascular access device for the oncology patient, based on the literature available to date.

  18. Vascular Injuries: Trends in Management

    PubMed Central

    Wani, Mohd Lateef; Ahangar, Ab Gani; Ganie, Farooq Ahmad; Wani, Shadab Nabi; Wani, Nasir-ud-din

    2012-01-01

    Abstract Vascular injury presents a great challenge to the emergency resident because these injuries require urgent intervention to prevent loss of life or limb. Sometimes serious vascular injury presents with only subtle or occult signs or symptoms. The patient may present weeks or months after initial injury with symptoms of vascular insufficiency, embolization, pseudoaneurysm, arteriovenous fistula etc. Although the majority of vascular injuries are caused by penetrating trauma from gunshot wounds, stabbing or blast injury, the possibility of vascular injury needs to be considered in patients presenting with displaced long bone fractures, crush injury, prolonged immobilization in a fixed position by tight casts or bandages and various invasive procedures. iatrogenic vascular injuries constitute about 10% of cases in most series; however the incidence is an increasing trend because more endovascular procedures such as angioplasty and cardiac catheterization are being performed routinely. Civilian trauma is more frequently seen in young males. However, it can occur at any age due to road accidents, firearms, bomb blasts and diagnostic procedures. Most of the time, civilian trauma causes less tissue damage. There is an epidemic of vascular injuries in Kashmir valley because of problems in law and order in the past two decades. This review deals with the topic in detail. PMID:24350103

  19. [The future of vascular medicine].

    PubMed

    Kroeger, K; Luther, B

    2014-10-01

    In the future vascular medicine will still have a great impact on health of people. It should be noted that the aging of the population does not lead to a dramatic increase in patient numbers, but will be associated with a changing spectrum of co-morbidities. In addition, vascular medical research has to include the intensive care special features of vascular patients, the involvement of vascular medicine in a holistic concept of fast-track surgery, a geriatric-oriented intensive monitoring and early geriatric rehabilitation. For the future acceptance of vascular medicine as a separate subject area under delimitation of cardiology and radiology is important. On the other hand, the subject is so complex and will become more complex in future specialisations that mixing of surgery and angiology is desirable, with the aim to preserve the vascular surgical knowledge and skills on par with the medical and interventional measures and further develop them. Only large, interdisciplinary guided vascular centres will be able to provide timely diagnosis and therapy, to deal with the growing multi-morbidity of the patient, to perform complex therapies even in an acute emergency and due to sufficient number of cases to present with well-trained and experienced teams. These requirements are mandatory to decrease patients' mortality step by step.

  20. Log Summarization and Anomaly Detection for TroubleshootingDistributed Systems

    SciTech Connect

    Gunter, Dan; Tierney, Brian L.; Brown, Aaron; Swany, Martin; Bresnahan, John; Schopf, Jennifer M.

    2007-08-01

    Today's system monitoring tools are capable of detectingsystem failures such as host failures, OS errors, and network partitionsin near-real time. Unfortunately, the same cannot yet be said of theend-to-end distributed softwarestack. Any given action, for example,reliably transferring a directory of files, can involve a wide range ofcomplex and interrelated actions across multiple pieces of software:checking user certificates and permissions, getting details for allfiles, performing third-party transfers, understanding re-try policydecisions, etc. We present an infrastructure for troubleshooting complexmiddleware, a general purpose technique for configurable logsummarization, and an anomaly detection technique that works in near-realtime on running Grid middleware. We present results gathered using thisinfrastructure from instrumented Grid middleware and applications runningon the Emulab testbed. From these results, we analyze the effectivenessof several algorithms at accurately detecting a variety of performanceanomalies.

  1. Short root anomaly in families and its association with other dental anomalies.

    PubMed

    Apajalahti, S; Arte, S; Pirinen, S

    1999-04-01

    In the present study, we collected a family series with short root anomaly in order to analyze the inheritance pattern of the condition. Another aim was to identify in these families an association with other dental anomalies, such as tooth agenesis, peg-shaped lateral incisors, supernumeraries, ectopia, and such morphological characteristics as invaginations, taurodontism, and a tendency to root resorption. Mesiodistal dimensions of the crowns of the affected teeth were measured in order to reveal any association with reduction or increase in tooth size. The apparent genetic heterogeneity of the pedigrees did not permit definitive conclusions as to the mode of inheritance. Autosomal dominant transmission of short root anomaly was seen in 3/8 families. In 2/8 families, the condition was seen in siblings but not in parents. An association with tooth agenesis and ectopic canines was noted, the prevalences of which were 46% and 33%, respectively. We stress the importance of not misdiagnosing this anomaly as resorption.

  2. Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

    PubMed

    O'Connor, Rachel; Al-Murrani, Amel; Aftimos, Salim; Asquith, Philip; Mazzaschi, Roberto; Eyrolle-Guignot, Dominique; George, Alice M; Love, Donald R

    2011-01-01

    This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.

  3. An isolated single L-II type coronary artery anomaly: A rare coronary anomaly

    PubMed Central

    Ermis, Emrah; Demirelli, Selami; Korkmaz, Ali Fuat; Sahin, Bingul Dilekci; Kantarci, Abdulmecit

    2015-01-01

    Summary The incidence of congenital artery anomalies is 0.2–1.4%, and most are benign. Single coronary artery (SCA) anomalies are very rare. The right coronary artery (RCA) originating from the left coronary system is one such SCA anomaly, and the risk of sudden cardiac death (SCD) increases if it courses between the pulmonary artery and aorta and coexists with other congenital heart diseases. Additionally, coursing of the RCA between the great vessels increases the risk of atherosclerosis. We herein present the case of a 57 year-old man who was admitted to our cardiology outpatient clinic and diagnosed with an SCA anomaly in which the RCA arose from the left main coronary artery (LMCA) and coursed between the pulmonary artery and aorta. However a critical stenosis was not detected in imaging techniques, and myocardial perfusion scintigraphic evidence of ischaemia was found in a small area. Therefore, he was managed with conservative medical therapy. PMID:26668781

  4. Changes in tundra vascular plant biomass over thirty years at Imnavait Creek, Alaska, and current ecosystem C and N dynamics.

    NASA Astrophysics Data System (ADS)

    Bret-Harte, M. S.; Shaver, G. R.; Euskirchen, E. S.; Huebner, D. C.; Drew, J. W.; Cherry, J. E.; Edgar, C.

    2015-12-01

    Understanding the magnitude of, and controls over, carbon fluxes in arctic ecosystems is essential for accurate assessment and prediction of their responses to climate change. In 2013, we harvested vegetation and soils in the most common plant community types in source areas for fluxes measured by eddy covariance towers located in three representative Alaska tundra ecosystems along a toposequence (a ridge site of heath tundra and moist non-acidic tundra, a mid-slope site of moist acidic tussock tundra, and a valley bottom site of wet sedge tundra and moist acidic tussock tundra) at Imnavait Creek, Alaska. This harvest sought to relate biomass, production, composition, and C and N stocks in soil and vegetation, to estimates of net ecosystem CO2 exchange obtained by micrometeorological methods. Soil C and N stocks in the seasonally unfrozen soil layer were greatest in the wet sedge community, and least in the heath community. In contrast, moist acidic tussock tundra at the valley bottom site had the highest C and N stocks in vascular plant biomass, while nearby wet sedge tundra had the lowest. Overall, soil C:N ratio was highest in moist acidic tussock tundra at the mid-slope site. Aboveground biomass of vascular plants in moist acidic tundra at the mid-slope site was nearly three times higher than that measured thirty years earlier in vegetation harvests of nearby areas at Imnavait Creek. Other harvests from sites near Toolik Field Station suggest that vascular plant biomass in moist acidic tundra has increased in multiple sites over this time period. Increased biomass in the mid-1990s corresponds with a switch from mostly negative to mostly positive spatially-averaged air temperature anomalies in the climate record. All our sites have been annual net sources of CO2 to the atmosphere over nine years of measurement, but in the last two years, the valley bottom site has been a particularly strong source, due to CO2 losses in fall and winter that correspond with a

  5. NADPH Oxidases in Vascular Pathology

    PubMed Central

    Konior, Anna; Schramm, Agata; Czesnikiewicz-Guzik, Marta

    2014-01-01

    Abstract Significance: Reactive oxygen species (ROS) play a critical role in vascular disease. While there are many possible sources of ROS, nicotinamide adenine dinucleotide phosphate (NADPH) oxidases play a central role. They are a source of “kindling radicals,” which affect other enzymes, such as nitric oxide synthase endothelial nitric oxide synthase or xanthine oxidase. This is important, as risk factors for atherosclerosis (hypertension, diabetes, hypercholesterolemia, and smoking) regulate the expression and activity of NADPH oxidases in the vessel wall. Recent Advances: There are seven isoforms in mammals: Nox1, Nox2, Nox3, Nox4, Nox5, Duox1 and Duox2. Nox1, Nox2, Nox4, and Nox5 are expressed in endothelium, vascular smooth muscle cells, fibroblasts, or perivascular adipocytes. Other homologues have not been found or are expressed at very low levels; their roles have not been established. Nox1/Nox2 promote the development of endothelial dysfunction, hypertension, and inflammation. Nox4 may have a role in protecting the vasculature during stress; however, when its activity is increased, it may be detrimental. Calcium-dependent Nox5 has been implicated in oxidative damage in human atherosclerosis. Critical Issues: NADPH oxidase-derived ROS play a role in vascular pathology as well as in the maintenance of normal physiological vascular function. We also discuss recently elucidated mechanisms such as the role of NADPH oxidases in vascular protection, vascular inflammation, pulmonary hypertension, tumor angiogenesis, and central nervous system regulation of vascular function and hypertension. Future Directions: Understanding the role of individual oxidases and interactions between homologues in vascular disease is critical for efficient pharmacological regulation of vascular NADPH oxidases in both the laboratory and clinical practice. Antioxid. Redox Signal. 20, 2794–2814. PMID:24180474

  6. Orbital debris hazard insights from spacecraft anomalies studies

    NASA Astrophysics Data System (ADS)

    McKnight, Darren S.

    2016-09-01

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

  7. Vascular Calcification: Mechanisms of Vascular Smooth Muscle Cell Calcification

    PubMed Central

    Leopold, Jane A.

    2014-01-01

    Vascular calcification is highly prevalent and, when present, is associated with major adverse cardiovascular events. Vascular smooth muscle cells play an integral role in mediating vessel calcification by undergoing differentiation to osteoblast-like cells and generating matrix vesicles that serve as a nidus for calcium-phosphate deposition in the vessel wall. Once believed to be a passive process, it is now recognized that vascular calcification is a complex and highly regulated process that involves activation of cellular signaling pathways, circulating inhibitors of calcification, genetic factors, and hormones. This review will examine several of the key mechanisms linking vascular smooth muscle cells to vessel calcification that may be targeted to reduce vessel wall mineralization and, thereby, reduce cardiovascular risk. PMID:25435520

  8. Vascular action of polyphenols.

    PubMed

    Ghosh, Dilip; Scheepens, Arjan

    2009-03-01

    Dietary patterns are widely recognised as contributors to cardiovascular and cerebrovascular disease. Endothelial function, the elastic properties of large arteries and the magnitude and timing of wave reflections are important determinants of cardiovascular performance. Several epidemiological studies suggest that the regular consumption of foods and beverages rich in flavonoids is associated with a reduction in the risk of several pathological conditions ranging from hypertension to coronary heart disease, stroke and dementia. The impairment of endothelial function is directly related to ageing and an association between decreased cerebral perfusion and dementia has been shown to exist. Cerebral blood flow (CBF) must be maintained to ensure a constant delivery of oxygen and glucose as well as the removal of waste products. Increasing blood flow is one potential way for improving brain function and the prospect for increasing CBF with dietary polyphenols is extremely promising. The major polyphenols shown to have some of these effects in humans are primarily from cocoa, wine, grape seed, berries, tea, tomatoes (polyphenolics and nonpolyphenolics), soy and pomegranate. There has been a significant paradigm shift in polyphenol research during the last decade. This review summarises our current knowledge in this area and points the way for the development of new types of functional foods targeted to brain health through improving vascular health.

  9. Constructal vascularized structures

    NASA Astrophysics Data System (ADS)

    Cetkin, Erdal

    2015-06-01

    Smart features such as self-healing and selfcooling require bathing the entire volume with a coolant or/and healing agent. Bathing the entire volume is an example of point to area (or volume) flows. Point to area flows cover all the distributing and collecting kinds of flows, i.e. inhaling and exhaling, mining, river deltas, energy distribution, distribution of products on the landscape and so on. The flow resistances of a point to area flow can be decreased by changing the design with the guidance of the constructal law, which is the law of the design evolution in time. In this paper, how the flow resistances (heat, fluid and stress) can be decreased by using the constructal law is shown with examples. First, the validity of two assumptions is surveyed: using temperature independent Hess-Murray rule and using constant diameter ducts where the duct discharges fluid along its edge. Then, point to area types of flows are explained by illustrating the results of two examples: fluid networks and heating an area. Last, how the structures should be vascularized for cooling and mechanical strength is documented. This paper shows that flow resistances can be decreased by morphing the shape freely without any restrictions or generic algorithms.

  10. [Aging and retinal vascular diseases].

    PubMed

    Takagi, Hitoshi

    2007-03-01

    Ocular vascular diseases such as diabetic retinopathy, retinal vein occlusion, and age-related macular degeneration, whose population increases along with aging, have become leading causes of severe visual disturbance. Macular edema and serous retinal detachment are associated with abnormal vascular leakage and tractional retinal detachment, and neovascular glaucoma is caused by retinal neovascularization. Such ocular vascular diseases are caused by vascular cell aging and vascular damage associated with lifestyle-related diseases including diabetes mellitus, hypertension, hyperlipidemia, and obesity. In the present study, we investigated molecular mechanisms in such vascular deficiencies using vascular cell biology methodology, and we propose novel strategies for the treatment of such vascular diseases. Along with aging, oxidative stress and physical stress, such as mechanical stretch, continuously and directly insult vascular cells. Such stress induces apoptosis by intracellular signaling through stress kinases in cultured retinal vascular cells. Inhibition of such stress kinases could be an effective treatment to protect the vascular cells against age-related damage. In a retinal vascular developmental model, pericyte loss causes pathology mimicking macular edema and proliferative diabetic retinopathy. Angiopoietin 1 (Ang 1) secreted by pericytes suppresses oxidative stress-induced intracellular signaling through stress kinases linked to cell apoptosis and normalizes such retinal pathology. This suggests that the paracrine action of Ang 1 in the pericytes is necessary to sustain normal retinal vasculature, and that Ang 1-triggered intracellular signaling is useful for the treatment of vascular cell pathology associated with pericyte loss. In diabetic retinopathy and retinal vein occlusion, retinal vessels regress along with retinal vascular cell apoptosis, and the retina becomes ischemic followed by pathological retinal neovascularization. VEGF has been

  11. Anomaly detection in radiographic images of composite materials via crosshatch regression

    NASA Astrophysics Data System (ADS)

    Lockard, Colin D.

    The development and testing of new composite materials is an important area of research supporting advances in aerospace engineering. Understanding the properties of these materials requires the analysis of material samples to identify damage. Given the significant time and effort required from human experts to analyze computed tomography (CT) scans related to the non-destructive evaluation of carbon fiber materials, it is advantageous to develop an automated system for identifying anomalies in these images. This thesis introduces a regression-based algorithm for identifying anomalies in grayscale images, with a particular focus on its application for the analysis of CT scan images of carbon fiber. The algorithm centers around a "crosshatch regression" approach in which each two-dimensional image is divided into a series of one-dimensional signals, each representing a single line of pixels. A robust multiple linear regression model is fitted to each signal and outliers are identified. Smoothing and quality control techniques help better define anomaly boundaries and remove noise, and multiple crosshatch regression runs are combined to generate the final result. A ground truth set was created and the algorithm was run against these images for testing. The experimental results support the efficacy of the technique, locating 92% of anomalies with an average recall of 88%, precision of 78%, and root mean square deviation of 11.2 pixels.

  12. Detection of fluid density anomalies using remote imaging techniques

    NASA Astrophysics Data System (ADS)

    Smart, Clara J.

    Systematic and remote imaging techniques capable of detecting fluid density anomalies will allow for effective scientific sampling, improved geologic and biologic spatial understanding and analysis of temporal changes. This work presents algorithms for detection of anomalous fluids using an ROV-mounted high resolution imaging suite, specifically the structured light laser sensor and 1350kHz multibeam sonar system. As the ROV-mounted structured light laser sensor passes over areas of active flow the turbulent nature of the density anomaly causes the project laser line, imaged at the seafloor, to blur and distort. Detection of this phenomena was initially presented in 2013 with significant limitations including false positive results for active venting. Advancements to the detection algorithm presented in this work include intensity normalization algorithms and the implementation of a support vector machine classification algorithm. Results showing clear differentiation between areas of plain seafloor, bacteria or biology, and active venting are presented for multiple hydrothermal vent fields. Survey altitudes and the direction of travel impact laser data gathered over active vent sites. To determine the implications of these survey parameters, data collected over a single hydrothermal vent at three altitudes with four headings per altitude are analyzed. Changing survey geometry will impact the resolution and intensity of the laser line images, therefore, normalization and processing considerations are presented to maintain signal quality. The spatial distribution of the detected density anomaly will also be discussed as it is impacted by survey range and vehicle heading. While surveying hypersaline brine pools the observed acoustic responses from the 1350kHz high frequency multibeam sonar system indicate sensitivity to changes in acoustic impedance and therefore the density of a fluid. Internal density stratification was detected acoustically, appearing as multiple

  13. Extending TOPS: A Prototype MODIS Anomaly Detection Architecture

    NASA Astrophysics Data System (ADS)

    Votava, P.; Nemani, R. R.; Srivastava, A. N.

    2008-12-01

    The management and processing of Earth science data has been gaining importance over the last decade due to higher data volumes generated by a larger number of instruments, and due to the increase in complexity of Earth science models that use this data. The volume of data itself is often a limiting factor in obtaining the information needed by the scientists; without more sophisticated data volume reduction technologies, possible key information may not be discovered. We are especially interested in automatic identification of disturbances within the ecosystems (e,g, wildfires, droughts, floods, insect/pest damage, wind damage, logging), and focusing our analysis efforts on the identified areas. There are dozens of variables that define the health of our ecosystem and both long-term and short-term changes in these variables can serve as early indicators of natural disasters and shifts in climate and ecosystem health. These changes can have profound socio-economic impacts and we need to develop capabilities for identification, analysis and response to these changes in a timely manner. Because the ecosystem consists of a large number of variables, there can be a disturbance that is only apparent when we examine relationships among multiple variables despite the fact that none of them is by itself alarming. We have to be able to extract information from multiple sensors and observations and discover these underlying relationships. As the data volumes increase, there is also potential for large number of anomalies to "flood" the system, so we need to provide ability to automatically select the most likely ones and the most important ones and the ability to analyze the anomaly with minimal involvement of scientists. We describe a prototype architecture for anomaly driven data reduction for both near-real-time and archived surface reflectance data from the MODIS instrument collected over Central California and test it using Orca and One-Class Support Vector Machines

  14. [Vascular "tumors" and the rules of their surgical management].

    PubMed

    Enjolras, O; Deffrennes, D; Borsik, M; Diner, P; Laurian, C

    1998-08-01

    After defining vascular tumors and malformations, formerly called angiomas, the authors adopt the classification of the International Society for the Study of vascular Anomalies. The various groups of malformations, after definition of the subject and the problems raised, are illustrated by a number of clinical cases and the rules of surgical management are discussed. Capillary malformations, formerly called portwine stains, can be treated by dye laser, but sometimes tissue and orthognathic reconstructive surgery in the presence of a skeletal malformation. Lymphatic malformations (lymphangiomas), optimally assessed by CT or MRI, can be treated by a variety of approaches: sclerotherapy, surgery. Venous malformations raise very different problems in the cervicocephalic region and on the limbs and trunk, but always require a multidisciplinary approach with, according to the site, size and repercussions, Ethibloc percutaneous sclerotherapy, embolization, surgery. Arteriovenous malformations require complete surgical treatment, usually preceded by embolization; reconstruction consists of local flaps or skin expansion in simple cases, and revascularized free flaps in difficult cases. If the malformation is cosmetically and functionally acceptable, the authors propose conservative management. The first-line treatment of haemangiomas is pharmacological (corticosteroids, interferon), but surgery may be indicated in two situations: early and late. There is a renewed interest in early surgery, subtended by several factors including cosmetic concerns and the development of new technologies, including the Cavitron. Late surgery retains its classical cosmetic and functional indications. Two key-words dominate the rules of therapeutic management of all types of vascular malformations: a multidisciplinary approach and modesty.

  15. Multiple pterygium syndrome: evolution of the phenotype.

    PubMed Central

    Thompson, E M; Donnai, D; Baraitser, M; Hall, C M; Pembrey, M E; Fixsen, J

    1987-01-01

    The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome. Images PMID:3430553

  16. Spectral anomalies in Young's double-slit interference experiment.

    PubMed

    Pu, Jixiong; Cai, Chao; Nemoto, Shojiro

    2004-10-18

    We report a phenomenon of spectral anomalies in the interference field of Young's double-slit interference experiment. The potential applications of the spectral anomalies in the information encoding and information transmission in free space are also considered.

  17. The association of congenital spinal anomalies with imperforate anus.

    PubMed

    Denton, J R

    1982-01-01

    Ninety-four patients with congenital imperforate anus were studied to investigate: (1) the incidence of congenital spinal anomalies; (2) the orthopedic significance of these anomalies; (3) the incidence of other musculoskeletal disorders; and (4) the incidence of anomalies in other organ systems in the anal-spine anomaly group. There was a 38% incidence of spinal anomalies in 94 patients with congenital imperforate anus. Most of these abnormalities were sacral, and there were no related or progressive spinal deformities. The incidence of other musculoskeletal anomalies was much lower than of the spine (only 9% of the total). The triad of caudal regression-imperforate anus, spinal anomalies, and genitourinary tract anomalies-was present in 19 (53%) of the 36 cases, much more than any other combination of major system abnormalities such as the VATER of VACTEL syndromes.

  18. Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management.

    PubMed

    Yuan, Shi-Min

    2016-11-19

    Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others. Asymptomatic patients with Ebstein's anomaly can be conservatively treated and kept under close follow-up, whereas surgical operation is indicated for those patients with evidence of right heart dilation and progressively impaired ventricular systolic function. A biventricular repair consisting of the reconstruction of a competent monocuspid tricuspid valve, right ventriculorrhaphy, subtotal atrial septal defect closure, and aggressive reduction atrioplasty is suitable for most patients, and 1.5-ventricular repair (bidirectional Glenn shunt) is indicated for patients with poor right ventricular function; by contrast, heart transplantation is used in patients with severe left ventricular dysfunction.

  19. The flyby anomaly: a multivariate analysis approach

    NASA Astrophysics Data System (ADS)

    Acedo, L.

    2017-02-01

    The flyby anomaly is the unexpected variation of the asymptotic post-encounter velocity of a spacecraft with respect to the pre-encounter velocity as it performs a slingshot manoeuvre. This effect has been detected in, at least, six flybys of the Earth but it has not appeared in other recent flybys. In order to find a pattern in these, apparently contradictory, data several phenomenological formulas have been proposed but all have failed to predict a new result in agreement with the observations. In this paper we use a multivariate dimensional analysis approach to propose a fitting of the data in terms of the local parameters at perigee, as it would occur if this anomaly comes from an unknown fifth force with latitude dependence. Under this assumption, we estimate the range of this force around 300 km.

  20. Topology of Fermi surfaces and anomaly inflows

    NASA Astrophysics Data System (ADS)

    Adem, Alejandro; Camarena, Omar Antolín; Semenoff, Gordon W.; Sheinbaum, Daniel

    2016-11-01

    We derive a rigorous classification of topologically stable Fermi surfaces of non-interacting, discrete translation-invariant systems from electronic band theory, adiabatic evolution and their topological interpretations. For systems on an infinite crystal it is shown that there can only be topologically unstable Fermi surfaces. For systems on a half- space and with a gapped bulk, our derivation naturally yields a K -theory classification. Given the d - 1-dimensional surface Brillouin zone X s of a d-dimensional half-space, our result implies that different classes of globally stable Fermi surfaces belong in K -1 (Xs) for systems with only discrete translation-invariance. This result has a chiral anomaly inflow interpretation, as it reduces to the spectral flow for d = 2. Through equivariant homotopy methods we extend these results for symmetry classes AI, AII, C and D and discuss their corresponding anomaly inflow interpretation.