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Sample records for arnold chiari malformation

  1. Arnold Chiari I Malformation with Tip-Toe Gait: A Case Report

    PubMed Central

    Hwang, Gi Hoon; Kim, Ghi Chan; Jeong, Ho Joong; Park, Yong Seok

    2013-01-01

    The Arnold-Chiari type I malformation has many symptoms such as headache, neck pain, gait impairment, abnormal movements or postures. But a few cases reported association of specific symptom including headache, neck pain, vertigo or ataxia. We report a case of 12 year-old boy presenting with tip-toe gait. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold-Chiari type I malformation. This case shows that it is need for central nervous system evaluation in patients with changes of lower extremities tone. PMID:24757457

  2. The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

    ERIC Educational Resources Information Center

    Mittler, Joel E.

    1986-01-01

    The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

  3. Chiari Malformation

    MedlinePLUS

    ... Conditions - Chiari Malformation Chiari Malformation (kee-AR-ee) Audio clip: Adobe Flash Player (version 9 or above) is required to play this audio clip. Download the latest version here . You also ...

  4. Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation.

    PubMed

    Ganesh, Deepa; Sagayaraj, Benjamin M; Barua, Ravi Kumar; Sharma, Nidhi; Ranga, Upasana

    2014-12-01

    In Arnold Chiari (kee-AHR-ee) II malformation elongated cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. Meningomyelocele is seen in all cases. We present a case of type II Arnold Chiari Malformation diagnosed in utero in a pregnant lady .There was no periconceptional folic acid supplementation. As the role of the Methylene Tetra Hydro Folate Reductase gene polymorphism in neural tube defects is becoming evident, a simple opportunity as folic acid supplementation should not be missed. Folate supplementation as fortification of cereal grains will also prevent other conditions like congenital heart defects, urinary tract anomalies, orofacial defects, limb defects and pyloric stenosis. PMID:25653995

  5. Arnold Chiari Malformation with Spina Bifida: A Lost Opportunity of Folic Acid Supplementation

    PubMed Central

    Sagayaraj, Benjamin M; Barua, Ravi Kumar; Sharma, Nidhi; Ranga, Upasana

    2014-01-01

    In Arnold Chiari (kee-AHR-ee) II malformation elongated cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. Meningomyelocele is seen in all cases. We present a case of type II Arnold Chiari Malformation diagnosed in utero in a pregnant lady .There was no periconceptional folic acid supplementation. As the role of the Methylene Tetra Hydro Folate Reductase gene polymorphism in neural tube defects is becoming evident, a simple opportunity as folic acid supplementation should not be missed. Folate supplementation as fortification of cereal grains will also prevent other conditions like congenital heart defects, urinary tract anomalies, orofacial defects, limb defects and pyloric stenosis. PMID:25653995

  6. Chiari Malformation

    MedlinePLUS

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  7. Chiari Malformation

    MedlinePLUS

    ... these tests: Magnetic resonance imaging (MRI) , which uses magnets, radio waves, and computer technology to produce pictures ... ultrasound images before birth. Back Continue Treatment Most kids with Chiari malformations who don't have symptoms ...

  8. Nuclear magnetic resonance (NMR) imaging of Arnold-Chiari type I malformation with hydromyelia

    SciTech Connect

    DeLaPaz, R.L.; Brady, T.J.; Buonanno, F.S.; New, P.F.; Kistler, J.P.; McGinnis, B.D.; Pykett, I.L.; Taveras, J.M.

    1983-02-01

    Saturation recovery nuclear magnetic resonance (NMR) images and metrizamide computed tomography (CT) scans were obtained in an adult patient with a clinical history suggestive of syringomyelia. Both NMR and CT studies showed low lying cerebellar tonsils. The CT study demonstrated central cavitation of the spinal cord from the midthoracic to midcervical levels but could not exclude an intramedullary soft tissue mass at the cervico-medullary junction. The NMR images in transverse, coronal, and sagittal planes demonstrated extension of an enlarged central spinal cord cerebrospinal fluid space to the cervico-medullary junction. This was felt to be strong evidence for exclusion of an intramedullary soft tissue mass and in favor of a diagnosis of Arnold-Chiari Type I malformation with hydromyelia. The noninvasive nature of spinal cord and cervico-medullary junction evaluation with NMR is emphasized.

  9. Arnold-Chiari Type I malformation: a look at two cases in the adult

    PubMed Central

    McArthur, Ross A

    1994-01-01

    This paper reviews the varied presentations of Arnold-Chiari Malformation (ACM) in terms of anatomy, clinical presentation, diagnostic workup, and therapeutic considerations. Emphasis is placed on the Type I condition as it appears in the adult. ACM is a developmental anomaly in which the cerebellar tonsils and portions of the posterior fossa structures herniate through the foramen magnum. It is frequently accompanied by a broad spectrum of additional anatomical variations and can present clinically in a variety of ways. Two cases of ACM Type I in the adult are presented. Both patients were treated initially by conservative measures before MRI could be obtained to establish the diagnosis. Neither one of these patients showed improvement with such a therapeutic regimen. It is important for practitioners to be aware of the varied presentations of ACM in the adult. ImagesFigure 1Figure 2Figure 3

  10. Chiari Malformation

    MedlinePLUS

    ... of the back of the head or the neck and contains brain matter. The covering of the brain or spinal ... fusion of segments of the bones in the neck, and extra folds in the brain. How common are Chiari malformations? In the past, ...

  11. [Otoneurological evaluation in patients with Arnold-Chiari malformation and various ossicular changes in cranial vertebral unity].

    PubMed

    Fernández-Nogueras, F J; Arráez, M A; Fernández Pérez, A; Moreno Léon, J; Fernández-Nogueras, V; Salinero Hernández, J

    1994-01-01

    The union between the inferior portion of the occipital bone and the first two cervical vertebrae is the site of osseous and neurological abnormalities responsible for a wide spectrum of signs and symptoms of otoneurological interest. Often symptoms are vague with an evolution marked by temporary exacerbation or remission. The diagnosis can be difficult, and in our experience is best achieved by combining neurotologic and neurologic evaluation. We discuss the diagnosis of 6 patients with lesions at the craneovertebral junction. Arnold-Chiari malformation was diagnosed most frequently. PMID:8068358

  12. Chiari malformation in pregnancy.

    PubMed

    Parfitt, Sheryl E; Roth, Cheryl K

    2015-01-01

    The diagnosis of Chiari malformation is on the rise owing to the increased frequency of brain imaging for concussion and trauma. This abnormal brain physiology can have a significant impact on the care management of a pregnant woman during the gestational period. Here we present a case example of a pregnant woman presenting in labor with a history of Chiari malformation with surgical treatment during her pregnancy. Antepartum, intrapartum and postpartum considerations are reviewed. This brief article is meant to be used as an easy-reference tool in the clinical setting. PMID:25900588

  13. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. PMID:26631589

  14. Chiari Malformation: Symptoms

    MedlinePLUS

    ... D’Alonzo “ Chiari patients often experience a wide array of symptoms and have a natural tendency after ... for medical advice. Conquer Chiari – Learn More Articles: Large Study Reveals Wide Range of Chiari Symptoms What ...

  15. Controversies in Chiari I malformations

    PubMed Central

    Baisden, Jamie

    2012-01-01

    Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures. PMID:22905329

  16. Chiropractic Care for Headaches and Dizziness of a 34-Year-Old Woman Previously Diagnosed With Arnold-Chiari Malformation Type 1

    PubMed Central

    Sergent, Adam W.; Cofano, Gregory P.

    2014-01-01

    Objective The purpose of this case study is to describe the chiropractic care of a patient with headaches and dizziness. Clinical Features A 34-year-old woman with a history of headaches, dizziness, photophobia, and temporary loss of vision aggravated by postural positions while bending forward sought conservative care for her symptoms. She reported a prior diagnosis of Arnold-Chiari malformation (ACM) type 1 by magnetic resonance imaging in 2005 that revealed descending cerebellar tonsils measured at 5 mm with an impression of ACM type 1. A new magnetic resonance image taken in 2013 indicated the cerebellar tonsils measured at 3 mm and did not project through the plane of the foramen magnum. The diagnosis of ACM type 1 was no longer applicable; however, the signs and symptoms of ACM type 1 persisted. Intervention and Outcome She was treated using cervical chiropractic manipulation using diversified technique. The dizziness and headache were resolved after 3 visits. At her 3-month follow-up, she continued to be symptom-free. Conclusion A patient with headaches and dizziness and a previous diagnosis of ACM type 1 responded positively to chiropractic care. PMID:25225468

  17. Chiari Malformation: Treatment

    MedlinePLUS

    ... around the malformation and restore the flow of spinal fluid. There are many variations: Surgical Steps Craniectomy- ... in the head) may benefit from this procedure. Fusion/Stabilization - As part of a decompression, or at ...

  18. Chiari I malformation presenting as chronic cough.

    PubMed

    Amos, Louella B; Quintero, Diana R

    2008-10-01

    We present a 9-month-old infant with persistent cough refractory to conventional asthma therapy. An extensive evaluation eventually revealed a Chiari I malformation with syringohydromyelia. His cough resolved one month after surgical decompression, suggesting that brainstem compression from the Chiari malformation directly caused his symptoms. PMID:18785260

  19. Chiari 1.5 Malformation : An Advanced Form of Chiari I Malformation

    PubMed Central

    Kim, In-Kyeong; Wang, Kyu-Chang; Kim, In-One

    2010-01-01

    The Chiari 1.5 malformation is defined as a tonsillar herniation within a Chiari I malformation with additional caudal descent of the brainstem through the foramen magnum. We describe a patient with Chiari I malformation who evolved to Chiari 1.5 malformation during longitudinal follow-up. A 15-year-old girl presented with neck pain during exercise for two years. She had been diagnosed with Chiari I malformation with mild hydrocephalus after minor cervical trauma at the age of six years. At that time, she was asymptomatic. After she complained of aggravated neck pain, neuroimaging (nine years after first imaging) revealed caudal descent of the brainstem and syringomyelia in addition to progression of tonsillar herniation. Posterior fossa decompressive surgery resulted in complete resolution of neck pain. Based on neuroimaging and operative findings, she was diagnosed as Chiari 1.5 malformation. Neuroimaging performed seven months after surgery showed an increased anterior-posterior diameter of the medulla oblongata and markedly decreased syringomyelia. This case demonstrates progressive developmental process of the Chiari 1.5 malformation as an advanced form of the Chiari I malformation. PMID:21113370

  20. Prevalence of Chiari I Malformation and Syringomyelia.

    PubMed

    Kahn, Elyne N; Muraszko, Karin M; Maher, Cormac O

    2015-10-01

    Chiari I malformation (CM) is a common neurosurgical diagnosis and spinal cord syrinx is frequently found in patients with CM. Asymptomatic CM is a common imaging finding. Symptomatic CM is less common. Variation in prevalence estimates may be attributed to differences in sensitivity of CM detection between studies as well as differences in the populations being analyzed. The prevalence of low tonsil position and CM on MRI is higher in children and young adults compared with older adults. Studies that include a large number of older adults find a lower prevalence compared with analyses of children. PMID:26408058

  1. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    PubMed

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented. PMID:19572237

  2. Osteopetrosis and Chiari type I malformation: a rare association

    PubMed Central

    Ekici, Mehmet Ali; C?kla, Ula?; Bauer, Andrew; Ba?kaya, Mustafa K.

    2015-01-01

    Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type I. Concomitant ADO with Chiari type I malformation is an extremely rare condition. Literature research yielded only one case report to date. PMID:26503583

  3. Chiari Type I Malformation in a Pediatric Population

    PubMed Central

    Aitken, Leslie A; Lindan, Camilla E; Sidney, Stephen; Gupta, Nalin; Barkovich, A. James; Sorel, Michael; Wu, Yvonne W

    2011-01-01

    Objective The natural history of Chiari I malformation in children remains unclear. Methods In this population-based retrospective cohort study, we searched radiology reports from all head and spine MRI scans (n=5248) performed among 741, 815 children under age 20 within Kaiser Northern California, 1997–1998, for Chiari I. We reviewed medical records and imaging studies to determine clinical and radiographic predictors of significant neurologic symptoms defined as moderate to severe headache, neck pain, vertigo or ataxia. Results The 51 patients identified with Chiari I represented 1% of children who had head or spine MRI scans performed during the study period. Headache (55%) and neck pain (12%) were the most common symptoms. Syringomyelia was present in 6 patients (12%) at time of initial diagnosis; no new syrinxes developed during follow-up. Older age at time of diagnosis was associated with increased risk of headache (OR 1.3, 95% CI 1.1–1.5) and significant neurologic symptoms (OR 1.2, 95% CI 1.04–1.4). Conclusions Chiari I, an under-recognized cause of headaches in children, is also frequently discovered incidentally in children without symptoms. Larger and longer-term studies are needed to determine the prognosis and optimal treatment of pediatric Chiari I. PMID:19433279

  4. Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

    PubMed

    Watts, Laura; Wordsworth, Paul

    2015-01-01

    X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition. PMID:26561226

  5. [Hemihypertrophy and scoliosis revealing a Chiari 1 malformation with syringomyelia].

    PubMed

    Benjamin, M-D; Santiago, J; Hebert, J-C; Thirion, S; Ranaivojaona, S; Alvarez, C; Atallah, A; Sibille, G; Bataille, H; Porlys, M; Ebrad, P

    2011-11-01

    We report the case of a 9-year-old boy with progressive thoracic scoliosis and crossed hemihypertrophy who was discovered with a Chiari 1 malformation and syringomyelia. These disorders are connected by complex physiopathological mechanisms; their association deserves attention. This observation reviews the importance of the clinical examination, particularly the neurological exam, in childhood scoliosis. The features suggesting a neurogenic background of spine deformation should be sought. Scoliosis with hemihypertrophy can be the sign of an underlying neurological abnormality. PMID:21982271

  6. Spinal Deformity Associated with Chiari Malformation.

    PubMed

    Kelly, Michael P; Guillaume, Tenner J; Lenke, Lawrence G

    2015-10-01

    Despite the frequency of Chiari-associated spinal deformities, this disease process remains poorly understood. Syringomyelia is often present; however, this is not necessary and scoliosis has been described in the absence of a syrinx. Decompression of the hindbrain is often recommended. In young patients (<10 years old) and/or those with small coronal Cobb measurements (<40°), decompression of the hindbrain may lead to resolution of the spinal deformity. Spinal fusion is reserved for those curves that progress to deformities greater than 50°. Further research is needed to understand the underlying pathophysiology to improve prognostication and treatment of this patient population. PMID:26408068

  7. Clinical Presentation of Chiari I Malformation and Syringomyelia in Children.

    PubMed

    Pindrik, Jonathan; Johnston, James M

    2015-10-01

    Chiari I malformation and syringomyelia may be associated with a wide spectrum of symptoms and signs in children. Clinical presentations vary based on patient age and relative frequency; some diagnoses represent incidental radiographic findings. Occipitocervical pain, propagated or intensified by Valsalva maneuvers (or generalized irritability in younger patients unable to communicate verbally), and syringomyelia with or without scoliosis are the most common clinical presentations. Cranial nerve or brainstem dysfunction also may be observed in younger patients, and is associated with more complex deformity that includes ventral compression secondary to basilar invagination, retroflexion of the dens, and/or craniocervical instability. PMID:26408059

  8. NREM Sleep Parasomnia Associated with Chiari I Malformation

    PubMed Central

    Daftary, Ameet S.; Walker, James M.; Farney, Robert J.

    2011-01-01

    Parasomnias are common sleep disorders in children, and most cases resolve naturally by adolescence.1 They represent arousal disorders beginning in NREM sleep and are generally non-concerning in children. The diagnosis can usually be made by clinical assessment, and testing with polysomnography is not routinely indicated.2 However, in certain cases with atypical features, polysomnography and more extensive neurologic evaluation are medically indicated. Citation: Daftary AS; Walker JM; Farney RJ. NREM Sleep Parasomnia associated with Chiari I malformation. J Clin Sleep Med 2011;7(5):526-529. PMID:22003350

  9. Definitions and Anatomic Considerations in Chiari I Malformation and Associated Syringomyelia.

    PubMed

    Tubbs, R Shane

    2015-10-01

    Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed. PMID:26408056

  10. Treatment of Syringomyelia due to Chiari Type I Malformation with Syringo-Subarachnoid-Peritoneal Shunt

    PubMed Central

    Akak?n, Ak?n; Y?lmaz, Baran; K?l?ç, Türker

    2015-01-01

    Chiari type I malformation is a tonsillar herniation more than 3 mm from the level of foramen magnum, with or without concurrent syringomyelia. Different surgical treatments have been developed for syringomyelia secondary to Chiari's malformations: craniovertebral decompression with or without plugging of the obex, syringo-subarachnoid, syringo-peritoneal, and theco-peritoneal shunt placement. Shunt placement procedures are useful for neurologically symptomatic large-sized syrinx. In this paper, authors define the first successful treatment of a patient with syringomyelia due to Chiari type I malformation using a pre-defined new technique of syringo-subarachnoid-peritoneal shunt with T-tube system. PMID:25932303

  11. Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings

    PubMed Central

    Park, Chul; Kang, Byeong-Teck; Yoo, Jong-Hyun

    2009-01-01

    Three small breed dogs were referred for the evaluation of neurologic deficits. Upon physical and neurologic examination, all dogs displayed hyperesthesia, pain, and neck stiffness. Magnetic resonance imaging was performed on the brain and spinal cord, and all three dogs presented Chiari-like malformations and syringomyelia. These dogs were treated with prednisolone and furosemide, and showed rapid improvement of clinical signs. Chiari malformations and syringomyelia were not improved because of congenital disorders. This case report demonstrates the clinical and diagnostic features of Chiari-like malformations and syringomyelia in three small breed dogs. PMID:19934606

  12. Ethical Implications of an Incidentally Discovered Asymptomatic Chiari Malformation in a Competitive Athlete

    PubMed Central

    Kirschen, Matthew P.; Illes, Judy

    2014-01-01

    ABSTRACT The clinical and ethical implications of an asymptomatic 17-year-old competitive football player incidentally found to have a type 1 Chiari malformation without a syrinx on brain imaging are discussed. Considering that patients with Chiari malformations can sustain irreversible neurologic injury or death after a mild head injury, and given the lack of data describing the risk of catastrophic injury after head trauma, the ethics of clearing this athlete to return to play are reviewed. PMID:25470168

  13. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism

    PubMed Central

    Pang, Chang Hwan; Kim, Chi Heon; Chung, Chun Kee

    2015-01-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

  14. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism.

    PubMed

    Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

    2015-09-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

  15. The Chiari Severity Index: A Preoperative Grading System for Chiari Malformation Type 1

    PubMed Central

    Greenberg, Jacob K; Yarbrough, Chester K; Radmanesh, Alireza; Godzik, Jakub; Yu, Megan; Jeffe, Donna B; Smyth, Matthew D; Park, Tae Sung; Piccirillo, Jay F; Limbrick, David D

    2014-01-01

    Background To develop evidence-based treatment guidelines for Chiari Malformation Type 1 (CM-1), preoperative prognostic indices capable of stratifying patients for comparative trials are needed. Objective To develop a preoperative Chiari Severity Index (CSI) integrating the clinical and neuroimaging features most predictive of long-term patient-defined improvement in quality of life (QOL) after CM-1 surgery. Methods We recorded preoperative clinical (e.g. headaches, myelopathic symptoms) and neuroimaging (e.g. syrinx size, tonsillar descent) characteristics. Brief follow-up surveys were administered to assess overall patient-defined improvement in QOL. We used sequential sequestration to develop clinical and neuroimaging grading systems and conjunctive consolidation to integrate these indices to form the CSI. We evaluated statistical significance using the Cochran-Armitage test and discrimination using the c-statistic. Results Our sample included 158 patients. Sequential sequestration identified headache characteristics and myelopathic symptoms as the most impactful clinical parameters, producing a clinical grading system with improvement rates ranging from 81% (grade 1) to 58% (grade 3) (p=0.01). Based on sequential sequestration, the neuroimaging grading system included only the presence (55% improvement) or absence (74% improvement) of a syrinx ? 6 mm (p=0.049). Integrating the clinical and neuroimaging indices, improvement rates for the CSI ranged from 83% (grade 1) to 45% (grade 3) (p=0.002). The combined CSI had moderately better discrimination (c=0.66) than the clinical (c=0.62) or neuroimaging (c=0.58) systems alone. Conclusion Integrating clinical and neuroimaging characteristics, the CSI is a novel tool that predicts patient-defined improvement following CM-1 surgery. The CSI may aid preoperative counseling and stratify patients in comparative effectiveness trials. PMID:25584956

  16. Syringomyelia with Chiari I Malformation Presenting as Hip Charcot Arthropathy: A Case Report and Literature Review

    PubMed Central

    Memarpour, Roya; Gonzalez-Ibarra, Fernando

    2015-01-01

    Neuroarthropathy (neuropathic osteoarthropathy), also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot) neuroarthropathy are rare and almost exclusively reported in patients with neurosyphilis (tabes dorsalis). We report a case of a 36-year-old man who presented to the emergency department complaining of right hip pain. On physical examination, pain and thermal sensory deficits were noted in the upper torso with a cape-like distribution, as well as signs of an upper motor neuron lesion in the left upper and lower extremities. A magnetic resonance imaging study (MRI) of the right hip showed evidence of early articular surface destruction and periarticular edema consistent with hip Charcot arthropathy. An MRI of the spine revealed an Arnold-Chiari type I malformation with extensive syringohydromyelia of the cervical and thoracic spine. PMID:25692057

  17. Occipital neuromodulation for refractory headache in the Chiari malformation population.

    PubMed

    Vadivelu, Sudhakar; Bolognese, Paolo; Milhorat, Thomas H; Mogilner, Alon Y

    2011-01-01

    Chronic occipital and suboccipital headache is a common symptom in patients with Chiari I malformation (CMI). These headaches may persist despite appropriate surgical treatment of the underlying pathology via suboccipital decompression, duraplasty and related procedures. Occipital stimulation has been shown to be effective in the treatment of a variety of occipital headache/pain syndromes. We present our series of 18 patients with CMI and persistent occipital headaches who underwent occipital neurostimulator trials and, following successful trials, permanent stimulator placement. Seventy-two percent (13/18) of patients had a successful stimulator trial and proceeded to permanent implant. Of those implanted, 11/13 (85%) reported continued pain relief at a mean follow-up of 23 months. Device-related complications requiring additional surgeries occurred in 31% of patients. Occipital neuromodulation may provide significant long-term pain relief in selected CMI patients with persistent occipital pain. Larger and longer-term studies are needed to further define appropriate patient selection criteria as well as to refine the surgical technique to minimize device-related complications. PMID:21422782

  18. Optical Coherence Tomography in Patients with Chiari I Malformation

    PubMed Central

    Perrini, Paolo; Miccoli, Mario; Baggiani, Angelo; Nardi, Marco

    2015-01-01

    Background/Aims. To evaluate optic nerve head with spectral domain optical coherence tomography (OCT) in patients with Chiari I malformation (CMI) compared to healthy controls. Methods. Cross-sectional study. OCT of the optic nerve head of 22 patients with CMI and 22 healthy controls was quantitatively analyzed. The healthy controls were matched for age and sex with the study population. Mean retinal nerve fiber layer (RNFL) thickness was calculated for both eyes; the mean thickness value was also registered for each quadrant and for each subfield of the four quadrants. Results. CMI patients showed a reduction of the RNFL thickness in both eyes. This reduction was more statistically significant (P < 0.05) for the inferior quadrant in the right eye and in each quadrant than nasal one in the left eye. Conclusion. A distress of the retinal nerve fibers could explain the observed reduction of the RNFL thickness in patients with CMI; in our series the reduction of the RNFL thickness seems lower when CMI is associated with syringomyelia. PMID:25815335

  19. Quantitative Analysis of Chiari-Like Malformation and Syringomyelia in the Griffon Bruxellois Dog

    PubMed Central

    Knowler, Susan P.; McFadyen, Angus K.; Freeman, Courtenay; Kent, Marc; Platt, Simon R.; Kibar, Zoha; Rusbridge, Clare

    2014-01-01

    This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes. PMID:24533070

  20. Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

    PubMed Central

    Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

    2015-01-01

    Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition. PMID:26713146

  1. Surgical treatment of Chiari I malformation with ventricular dilation.

    PubMed

    Deng, Xiaofeng; Wu, Liang; Yang, Chenlong; Tong, Xianzeng; Xu, Yulun

    2013-01-01

    Ventricular dilation affects 7% to 10% of patients with Chiari type I malformation (CIM), but the choice of surgical treatment is controversial. To study the surgical approaches for treating CIM with ventricular dilation and to evaluate the efficacy of posterior fossa decompression (PFD), clinical and imaging data of 38 adult patients who received surgical correction performed at the authors' department from 2004 to 2011 were reviewed. Ventricular dilation was defined as Evans' index > 0.30. Preoperative fundus examinations were done on all patients and no papilledema was found. Surgical procedures included a sub-occipital decompression and a C1 laminectomy, followed by a duraplasty with an autologous graft. Evans' index was measured before and after surgery respectively, and a paired samples t-test was performed to examine the difference. Factors predicting outcomes were investigated using logistic regression analysis. Follow-up was done to all patients with an average duration of 43 months. All postoperative magnetic resonance (MR) images showed a relief of cervicomedullary compression and recreation of the cisterna magna. Symptoms improved in 33 patients (86.8%), remained stable in 5 (13.2%), and no patient deteriorated. No significant change in ventricular size was observed after surgery (P = 0.257). Regression analysis showed duration of illness had a significant effect on clinical outcome (P = 0.034, OR = 12.5, 95% CI: 1.214, 128.661). Our study suggests that the intracranial pressure (ICP) of patients with CIM and ventricular dilation is usually normal. PFD with duraplasty is an effective and safe treatment for CIM with ventricular dilation. Treatment of ventricular dilation is unnecessary before PFD as long as there is no persistent headache, vomiting, and papilledema. PMID:24140779

  2. Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

    ERIC Educational Resources Information Center

    Elam, Mary Jane; Vaughn, John A.

    2011-01-01

    In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

  3. Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

    ERIC Educational Resources Information Center

    Elam, Mary Jane; Vaughn, John A.

    2011-01-01

    In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

  4. Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)

    PubMed Central

    2009-01-01

    Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is established with neuroimaging techniques. The most effective therapy for patients with Chiari type I malformation/syringomyelia is surgical decompression of the foramen magnum, however there are non-surgical therapy to relieve neurophatic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarly based on spinal or peripheral electrical stimulation. It is important to determine the needs of the patients in terms of health-care, social, educational, occupational, and relationship issues, in addition to those derived from information aspects, particularly at onset of symptoms. Currently, there is no consensus among the specialists regarding the etiology of the disease or how to approach, monitor, follow-up, and treat the condition. It is necessary that the physicians involved in the care of people with this condition comprehensively approach the management and follow-up of the patients, and that they organize interdisciplinary teams including all the professionals that can help to increase the quality of life of patients. PMID:20018097

  5. Acquired Chiari I malformation and syringomyelia after valveless lumboperitoneal shunt in infancy.

    PubMed

    Riffaud, Laurent; Moughty, Carolina; Henaux, Pierre-Louis; Haegelen, Claire; Morandi, Xavier

    2008-01-01

    The authors present the case of a 13-year-old boy who experienced frequent disabling episodes of typical postural induced headaches, which revealed a Chiari I malformation, syringomyelia and cervical spinal cord edema. This boy had received a valveless lumboperitoneal (LP) shunt at the age of 18 months for macrocephaly. At this time, cranial CT scan showed moderate enlargement of the subarachnoid spaces without hydrocephalus or tonsillar herniation. The LP shunt was clamped but the patient experienced signs of brain stem dysfunction and increased intracranial pressure. Finally, an adjustable valve (110 mm Hg) was inserted and all the symptoms resolved. Although some authors consider LP shunt as a safe and effective procedure even in the pediatric population, our case reminds us that these shunts, especially when valveless, may expose the patient to the risk of symptomatic acquired Chiari I malformation and syringomyelia consecutive to a chronic spinal CSF leakage. PMID:18354264

  6. A case of bilateral uveitis and optic disc swelling with Chiari I malformation

    PubMed Central

    Eken, Volkan; Nilüfer Yalç?nda?, F.; Bat?o?lu, Figen; I??kay, Canan Togay

    2012-01-01

    We report a case of bilateral uveitis and optic disc swelling with Chiari I malformation. A 16-year-old girl was admitted to our clinic due to conjunctival hyperaemia and blurred vision in her right eye. Ophthalmologic and systemic examinations were performed. Visual acuity was 0.7 (OD) and 1.0 (OS). Bilateral optic disc swelling was observed. Fluorescein angiography demonstrated bilateral retinal vasculitis as well as optic disc hyperflourescence due to leakage. Laboratory examinations were within normal limits. Cranial magnetic resonance venography imaging revealed neither cranial mass nor cerebral venous thrombosis but a Chiari I malformation. The patient was started oral cetazolamid, topical and oral corticosteroids. After six months follow-up, bilateral optic disc swelling was resolved completely and visual acuity was 1.0 in both eyes. Optic disc swelling may be associated with intraocular inflammation; however, patients with bilateral optic disc swelling should be suspected of having an accompanying intracranial pathology. PMID:23961015

  7. Chiari I malformation associated with atlanto-occipital assimilation presenting as orthopnea and cough syncope.

    PubMed

    Mangubat, Erwin Zeta; Wilson, Tom; Mitchell, Brian A; Byrne, Richard W

    2014-02-01

    Although it is not uncommon for patients with Chiari I malformations to present with respiratory complaints, cough syncope is a rare presenting symptom. We report an adult patient who had both a Chiari I malformation and atlanto-occipital assimilation, and complained of cough syncope, orthopnea, and central sleep apnea. The patient underwent decompressive craniectomy of the posterior fossa and a cervical level 2 laminectomy. However, due to an initial under-appreciation of the profound narrowing of the foramen magnum as a result of these concomitant pathologies, the patient had continued impaired cerebrospinal fluid flow, leading to a symptomatic pseudomeningocele and required a more extensive decompression that included a cervical level 3 laminectomy as well as a temporary lumbar drain. On 2 year follow-up, he remained asymptomatic. PMID:24080068

  8. [A case of congenital hypomyelination neuropathy with type I Chiari malformation and mental retardation].

    PubMed

    Saito, Y; Sugai, K; Sasaki, M; Hirano, S; Hanaoka, S; Hashimoto, T; Nonaka, I; Nagai, T

    1997-09-01

    A four-year old boy with congenital hypomyelination neuropathy (CHMN) had mental retardation and a tic disorder, the latter commencing at 2 years of age. The diagnosis of CHMN was confirmed by electron microscopy of his biopsied sural nerve which showed loss of large myelinated fibers, decreased density of myelinated fibers, many naked axons and atypical onion bulb formation. MR imaging showed type I Chiari malformation in the absence of clinical signs attributable to it. Auditory brainstem response (ABR) showed delayed wave I peak latency, prolonged I--III interpeak latency, broad wave II duration and normal III--V interpeak latency, suggesting abnormal peripheral and normal central myelination. The association of CHMN with mental retardation. Chiari malformation and tic disorder has never been reported, the significance of which remained unclear. PMID:9294313

  9. Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction

    PubMed Central

    Awad, Al-Wala; Aleck, Kyrieckos A; Bhardwaj, Ratan D

    2014-01-01

    We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute hydrocephalus. Although our patient was initially asymptomatic, hydrocephalus ensued several weeks after birth and required cerebral spinal fluid diversion. We discuss the potential links between the two conditions, the pathophysiology, and the important clinical implications for the management of the increased risk of hydrocephalus. PMID:25405196

  10. Rapidly progressive foot drop: an uncommon and underappreciated cause of Chiari I malformation and holocord syrinx

    PubMed Central

    Panda, Akhila Kumar; Kaur, Manmeet

    2013-01-01

    We describe a case of a 16-year-old boy presented with rapidly progressive right foot drop without any predisposing illness or antecedent events. Nerve conduction study was non-contributory and needle electromyography localised proximal lesion which prompted spine neuroimaging. MRI of whole spine and brain revealed Chiari I malformation along with holocord syringomyelia. The patient underwent suboccipital craniectomy and C1 laminectomy with duroplasty decompressing the foramen magnum. He responded to surgical intervention without further complications. PMID:23897377

  11. A case report of Charcot arthropathy caused by syringomyelia and Chiari malformation complicated with scoliosis

    PubMed Central

    2014-01-01

    Background Although Charcot arthropathy, also known as neuropathic arthropathy, of which early diagnosis and treatment is extremely difficult, associated with other cause factor has been widely described, Charcot arthropathy caused by syringomyelia and Chiari malformation complicated with scoliosis has never been described in the literature. Case presentation A 44-year-old male was hospitalized for diagnosis and treatment due to complaining the progressively swelling and limitation of motion in his left shoulder joint for 1 year. The patient has no significant past medical history except for scoliosis 8 years prior to his presentation to our clinic; He denied any constitutional symptoms, trauma, or pain in the upper extremities at this time of presentation. Based on history, physical and auxiliary examination, following diagnoses were made: Charcot arthropathy of the left shoulder, syringomyelia, Chiari malformation and scoliosis. Conclusion Once Charcot arthritis was found, it was mostly in advanced stage and very difficult to treat. So we recommended that if patient suffering from scoliosis visited in clinic, further examination such as magnetic resonance imaging (MRI) and regular follow-up should be carried out, and early-stage of this devastating disease caused by syringomyelia and Chiari malformation may be diagnosed easily. PMID:24886292

  12. The relationship between obesity and symptomatic Chiari I malformation in the pediatric population

    PubMed Central

    Lam, Sandi; Auffinger, Brenda; Tormenti, Matthew; Bonfield, Christopher; Greene, Stephanie

    2015-01-01

    Background: Concomitant with the rise in childhood obesity in the United States is an increase in the diagnosis of Chiari I malformation (CM1). Objective: To discern a correlation between obesity and CM1, defined as >5 mm of cerebellar tonsillar descent on sagittal magnetic resonance imaging. Methods: Charts of CM1 patients aged 2–20 years were retrospectively reviewed. Chiari size, age, body mass index (BMI), and CM1 signs/symptoms were recorded. Patients were stratified by age: 2–9, 10–14, and 15–20 years. Mixed-effect linear models and linear regression analysis were applied to investigate the relationship between BMI-for-age percentiles and CM1 signs/symptoms. Results: One hundred sixty-seven patients were included (mean age 14.5 ± 2.97 years, BMI 22.98 ± 6.5, and Chiari size 12.27 mm ± 5.91). When adjusted for age, 42% were overweight or obese–higher than normative BMI for children in the studied area (29.6%). When stratified by age, patients between 2 and 9 years were most commonly obese and presented the highest mean BMI (25.66), largest Chiari size (13.58), and highest incidence of headache (75%) and syringomyelia (66.67%). Patients between 15 and 20 years were most commonly overweight and presented the smallest Chiari size (11.76 mm), but the highest incidence of cerebellar (50%) and brainstem (8.55%) compression symptoms. A significant positive correlation existed between BMI and headache in the first two age groups: (R2: 0.36, P = 0.03; R2: 0.39, P = 0.01, respectively). Obese patients had higher incidence of headache in the 10–14 group (R2: 0.37, P = 0.02) and the largest Chiari size in the 15–20 group (R2: 0.40, P = 0.03). Conclusions: The pediatric CM1 population is more likely to be overweight or obese. Younger obese patients presented the highest incidence of Chiari-related headache symptoms, and older obese patients, the highest incidence of findings other than headache. Thus, body weight and age should be considered when evaluating children with CM1.

  13. Posterior reversible encephalopathy syndrome in a patient with a Chiari I malformation

    PubMed Central

    Hansberry, David R.; Agarwal, Nitin; Tomei, Krystal L.; Goldstein, Ira M.

    2013-01-01

    Background: The authors describe a unique case of a patient who developed posterior reversible encephalopathy syndrome (PRES) following postoperative treatment of a Chiari I malformation. Case Decsription: A 25-year-old female presented with complaints of left upper and lower extremity paresthesias and gait disturbances. A magnetic resonance imaging (MRI) of the brain and cervical spine showed a Chiari I malformation with tonsillar descent beyond the level of the C1 lamina. She underwent a suboccipital craniectomy and C1 laminectomy with cerebellar tonsillar cauterization and duraplasty. Postoperatively, an MRI showed bilateral acute infarcts of the cerebellar vermis. She was initially treated for cerebellar ischemia with hypertensive therapy with a subsequent decline in her neurologic status and generalized tonic–clonic seizure. Further workup showed evidence of PRES. After weaning pressors, the patient had a significant progressive improvement in her mental status. Conclusion: Although the mechanism of PRES remains controversial given its diverse clinical presentation, several theories implicate hypertension and steroid use as causative agents. PMID:24232171

  14. Health-related quality of life in pediatric Chiari Type I malformation: the Chiari Health Index for Pediatrics.

    PubMed

    Ladner, Travis R; Westrick, Ashly C; Wellons, John C; Shannon, Chevis N

    2016-01-01

    OBJECT The purpose of this study was to design and validate a patient-reported health-related quality of life (HRQOL) instrument for pediatric Chiari Type I malformation (CM-I), the Chiari Health Index for Pediatrics (CHIP). METHODS The CHIP has 45 items with 4 components making up 2 domain scores, physical (pain frequency, pain severity, nonpain symptoms) and psychosocial; physical and psychosocial scores are combined to create an overall HRQOL score. Increasing scores (0 to 1) represent increasing HRQOL. Fifty-five patients with CM-I (mean age 12 ± 4 years, 53% male) were enrolled and completed the CHIP and Health Utilities Index Mark 3 (HUI3). Twenty-five healthy controls (mean age 11.9 ± 4 years, 40% male) also completed the CHIP. CHIP scores were compared between these groups via the Mann-Whitney U-test. For CHIP discriminative function, subscore versus presence of CM-I was compared via receiver operating characteristic curve analysis. CHIP scores in the CM-I group were stratified by symptomatology (asymptomatic, headaches, and paresthesias) and compared via Kruskal-Wallis test with Mann-Whitney U-test with Bonferroni correction (p < 0.0167). CHIP was compared with HUI3 (Health Utilities Index Mark 3) via univariate and multivariate linear regression. RESULTS CHIP physical and psychosocial subscores were, respectively, 24% and 18% lower in CM-I patients than in controls (p < 0.001); the overall HRQOL score was 23% lower as well (p < 0.001). The area under the curve (AUC) for CHIP physical subscore versus presence of CM-I was 0.809. CHIP physical subscore varied significantly with symptomatology (p = 0.001) and HUI3 pain-related quality of life (R(2) = 0.311, p < 0.001). The AUC for CHIP psychosocial subscore versus presence of CM-I was 0.754. CHIP psychosocial subscore varied significantly with HUI3 cognitive- (R(2) = 0.324, p < 0.001) and emotion-related (R(2) = 0.155, p = 0.003) quality of life. The AUC for CHIP HRQOL versus presence of CM-I was 0.820. Overall CHIP HRQOL score varied significantly with symptomatology (p = 0.001) and HUI3 multiattribute composite HRQOL score (R(2) = 0.440, p < 0.001). CONCLUSIONS The CHIP is a patient-reported, CM-I-specific HRQOL instrument, with construct validity in assessing pain-, cognitive-, and emotion-related quality of life, as well as symptomatic features unique to CM-I. It holds promise as a discriminative HRQOL index in CM-I outcomes assessment. PMID:26431245

  15. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida.

    PubMed

    Williams, Helen

    2008-01-01

    This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS) venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described.Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF) volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage.The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of posterior fossa hypoplasia, where raised pressure occurs as a result of obstruction to flow of CSF from the head to the spine, and cerebral injury with raised pressure occurs in anencephaly by this mechanism.The current view of dysraphism is that low central nervous system pressure and exposure to amniotic fluid, damage the central nervous system. The hypothesis proposed in this essay supports the view that spina bifida is a manifestation of progressive hydrocephalus in the fetus. It is proposed that that mesodermal growth insufficiency influences both neural tube closure and central nervous system pressure, leading to dysraphism. PMID:18405364

  16. Spinal cord detethering in children with tethered cord syndrome and Chiari type 1 malformations.

    PubMed

    Glenn, Chad; Cheema, Ahmed A; Safavi-Abbasi, Sam; Gross, Naina L; Martin, Michael D; Mapstone, Timothy B

    2015-11-01

    We discuss the association between tethered cord syndrome (TCS) and Chiari type 1 malformation (CM1), and report on the surgical outcomes of children with CM1 and TCS who underwent sectioning of the filum terminale (SFT). The relationship between TCS and CM1 is unclear. A retrospective review of 170 consecutive spinal cord detetherings between 2008 and 2012 was performed. We identified 17 children with CM1 who underwent SFT. Information regarding clinical presentation, radiographic findings, surgical procedures, and clinical outcomes was analyzed. A mean tonsillar herniation of 10.0mm (range: 5-21) was noted. Children with a fatty or thickened filum terminale demonstrated a greater amount of tonsillar displacement (p<0.005). A low conus medullaris was found in 12 children and a syrinx was present in three. The preoperative symptoms improved in all children. The postoperative MRI (mean 21.8 months) revealed an unchanged tonsillar position in all but one child. No worsening of neurologic function was noted. Pediatric patients who have both CM1 and TCS, but do not demonstrate classic Chiari-related symptoms, may experience symptomatic improvement after filum terminale sectioning. PMID:26165471

  17. Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation*

    PubMed Central

    do Vale, Jorge Marques; Silva, Eloísa; Pereira, Isabel Gil; Marques, Catarina; Sanchez-Serrano, Amparo; Torres, António Simões

    2014-01-01

    The Chiari malformation type I (CM-I) has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery. PMID:25410846

  18. Sleep Disordered Breathing in Children and Adolescents with Chiari Malformation Type I

    PubMed Central

    Losurdo, Anna; Dittoni, Serena; Testani, Elisa; Di Blasi, Chiara; Scarano, Emanuele; Mariotti, Paolo; Paternoster, Giovanna; Di Rocco, Concezio; Massimi, Luca; Della Marca, Giacomo

    2013-01-01

    Study Objectives: Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. Methods: Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 ± 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. Results: Mean size of the herniation was 9.5 ± 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). Conclusions: In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB. Citation: Losurdo A; Dittoni S; Testani E; Di Blasi C; Scarano E; Mariotti P; Paternoster G; Di Rocco C; Massimi L; Della Marca G. Sleep disordered breathing in children and adolescents with Chiari malformation Type I. J Clin Sleep Med 2013;9(4):371-377. PMID:23585753

  19. Chiari Malformation

    MedlinePLUS

    ... of the brain stem (the part of the brain that controls nerves in the face, mouth, throat, neck, and spine) down through a funnel-like hole ... relieving symptoms and stopping further damage to the brain and spinal ... headaches and neck pain. They also may recommend limiting activities that ...

  20. Chiari Malformation

    MedlinePLUS

    ... the skull is too small, which pushes the brain tissue down. There are several types of CM. Some cause no symptoms and don't need treatment. If you have symptoms, they may include Neck pain Balance problems Numbness or other abnormal feelings ...

  1. American Syringomyelia & Chiari Alliance Project

    MedlinePLUS

    ... Friends: For those living with Chiari malformation and syringomyelia — and the families and friends who support them — ... need, organized for easy retrieval. Conditions • Chiari Malformation • Syringomyelia • Newsletter • Medical Articles • Related Disorders • BJO Scholarships • Patient ...

  2. PROGRESSIVE SYRINGOHYDROMYELIA AND DEGENERATIVE AXONOPATHY IN A BOBCAT (LYNX RUFUS) FOLLOWING SURGICAL CORRECTION OF A CHIARI-LIKE MALFORMATION.

    PubMed

    Sadler, Ryan; Schumacher, Juergen; Ramsay, Edward; McCleery, Brynn; Baine, Katherine; Thomas, William; Nobrega-Lee, Michelle; Henry, George A; Newman, Shelley J

    2016-03-01

    A 3-yr-old male captive bobcat ( Lynx rufus ) presented with chronic ataxia and right-sided head tilt. Magnetic resonance imaging (MRI) revealed cerebellar crowding and compression consistent with Chiari-like malformation. The clinical signs did not improve after surgical occipital craniectomy, and 2 mo postoperatively a second MRI showed hydromyelia and continued cerebellar compression. The bobcat was euthanized, and necropsy showed chronic focal cerebellar herniation and chronic multifocal atlanto-occipital joint osteophyte proliferation. Histology confirmed the presence of a thick fibrous membrane along the caudal aspect of the cerebellar vermis, suggestive of postoperative adhesions, and axonal degeneration of the cervical spinal cord, even in sections without a central canal lesion. These lesions appear to have been complications associated with surgical correction of the Chiari-like malformation. PMID:27010296

  3. Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia?

    PubMed Central

    Knowler, Susan P.; v/d Berg, Henny; McFadyen, Angus; La Ragione, Roberto M.; Rusbridge, Clare

    2016-01-01

    Canine Chiari-like malformation (CM) is a complex abnormality of the skull and craniocervical junction associated with miniaturization and brachycephaly which can result in the spinal cord disease syringomyelia (SM). This study investigated the inheritance of CM in a Griffon Bruxellois (GB) family and feasibility of crossbreeding a brachycephalic CM affected GB with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB breed characteristics. The study family cohort (n = 27) included five founder dogs from a previous baseline study of 155 GB which defined CM as a global malformation of the cranium and craniocervical junction with a shortened skull base and increased proximity of the cervical vertebrae to the skull. T1-weighted sagittal DICOM images of the brain and craniocervical junction were analysed for five significant traits (two angles, three lines) identified from the previous study and subsequent Qualitative Trait Loci analysis. Mean measurements for mixed breed, pure-breed and baseline study groups were compared. Results indicated that mixed breed traits posed less risk for CM and SM and were useful to distinguish the phenotype. Moreover on the MR images, the filial relationships displayed by the traits exhibited segregation and those presenting the greatest risk for CM appeared additive towards the severity of the condition. The external phenotypes revealed that by outcrossing breed types and with careful selection of appropriate conformation characteristics in the first generation, it is possible to regain the GB breed standard and reduce the degree of CM. The four GB affected with SM in the study all exhibited reduced caudal skull development compared to their relatives. The craniocervical traits may be useful for quantifying CM and assessing the possibility of SM thus assisting breeders with mate selection. However, such a system requires validation to ensure appropriateness for all breeds at risk. PMID:27008271

  4. Comparison of gabapentin versus topiramate on clinically affected dogs with Chiari-like malformation and syringomyelia.

    PubMed

    Plessas, I N; Volk, H A; Rusbridge, C; Vanhaesebrouck, A E; Jeffery, N D

    2015-09-19

    To date there is no evidence-based data for efficacious treatment of neuropathic pain in dogs with Chiari-like malformation (CM) and syringomyelia (SM). The objective of this prospective cross-over study was to compare the effect of gabapentin versus topiramate, as an add-on treatment to carprofen, on quality of life (QoL) of dogs experiencing signs of neuropathic pain due to CM/SM. A visual analogue scale (VAS) was used to assess the QoL: (1) on day 0; (2) after 1 week of carprofen only; (3) after 2 weeks on carprofen and gabapentin; and (4) after 2 weeks on carprofen and topiramate. No significant difference was observed between VAS after gabapentin or topiramate (P=0.91). However, an improvement in QoL was observed when gabapentin was compared with baseline (P=0.009), but not for topiramate. In conclusion, the addition of gabapentin was more effective in improving QoL than carprofen alone, but the study failed to identify that gabapentin was more efficacious than topiramate. Perhaps the more favourable side effect profile of the former makes it more suitable for the treatment of neuropathic pain associated with CM/SM but further placebo-controlled trials are required to assess the efficacy of these drugs. PMID:26269418

  5. Urgent surgical intervention in pediatric patients with Chiari malformation type I. Report of two cases.

    PubMed

    Wellons, John C; Tubbs, R Shane; Bui, Cuong J; Grabb, Paul A; Oakes, W Jerry

    2007-07-01

    Patients with Chiari malformation Type I (CM-I) most commonly present with chronic symptoms. A search of the current medical literature revealed scant information regarding acute presentations of CM-I in either pediatric or adult patients. The authors report on two children who presented with rapidly worsening neurological symptoms attributable to a previously undiagnosed CM-I. One patient became profoundly hypopneic with dysphagia and right hemiparesis over a less than 48-hour period. The second patient presented with a few days of worsening right hemiparesis, gait disturbance, and anisocoria. In addition to a CM-I, magnetic resonance imaging in the second patient revealed a holocord syrinx. Following urgent posterior fossa decompression, both patients rapidly improved in the 24 hours immediately following surgery and continued to improve in the subsequent weeks. Few reports detail acute symptoms due to CM-I and those that do exist almost exclusively involve adult patients. Although seemingly rare, the clinician should consider CM-I in the differential diagnosis in pediatric patients presenting with acute brainstem or long tract signs. PMID:17647308

  6. The Vestibulo-ocular Reflex During Active Head Motion in Chiari II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2008-01-01

    Background Chiari type II malformation (CII) is a developmental anomaly of the cerebellum and brainstem, which are important structures for processing the vestibulo-ocular reflex (VOR). We investigated the effects of the deformity of CII on the angular VOR during active head motion. Methods Eye and head movements were recorded using an infrared eye tracker and magnetic head tracker in 20 participants with CII [11 males, age range 8-19 years, mean (SD) 14.4 (3.2) years]. Thirty-eight age-matched healthy children and adolescents (21 males) constituted the control group. Participants were instructed to ‘look’ in darkness at the position of their thumb, placed 25 cm away, while they made horizontal and vertical sinusoidal head rotations at frequencies of about 0.5 Hz and 2 Hz. Parametric and non-parametric tests were used to compare the two groups. Results The VOR gains, the ratio of eye to head velocities, were abnormally low in two participants with CII and abnormally high in one participant with CII. Conclusion The majority of participants with CII had normal VOR performance in this investigation. However, the deformity of CII can impair the active angular VOR in some patients with CII. Low gain is attributed to brainstem damage and high gain to cerebellar dysfunction. PMID:18973069

  7. Volumetric analysis of syringomyelia following hindbrain decompression for Chiari malformation Type I: syringomyelia resolution follows exponential kinetics

    PubMed Central

    Coumans, Jean-Valery; Walcott, Brian P.; Butler, William E.; Nahed, Brian V.; Kahle, Kristopher T.

    2013-01-01

    Object Resolution of syringomyelia is common following hindbrain decompression for Chiari malformation, yet little is known about the kinetics governing this process. The authors sought to establish the volumetric rate of syringomyelia resolution. Methods A retrospective cohort of patients undergoing hindbrain decompression for a Chiari malformation Type I with preoperative cervical or thoracic syringomyelia was identified. Patients were included in the study if they had at least 3 neuroimaging studies that detailed the entirety of their preoperative syringomyelia over a minimum of 6 months postoperatively. The authors reconstructed the MR images in 3 dimensions and calculated the volume of the syringomyelia. They plotted the syringomyelia volume over time and constructed regression models using the method of least squares. The Akaike information criterion and Bayesian information criterion were used to calculate the relative goodness of fit. The coefficients of determination R2 (unadjusted and adjusted) were calculated to describe the proportion of variability in each individual data set accounted for by the statistical model. Results Two patients were identified as meeting inclusion criteria. Plots of the least-squares best fit were identified as 4.01459e?0.0180804x and 13.2556e?0.00615859x. Decay of the syringomyelia followed an exponential model in both patients (R2 = 0.989582 and 0.948864). Conclusions Three-dimensional analysis of syringomyelia resolution over time enables the kinetics to be estimated. This technique is yet to be validated in a large cohort. Because syringomyelia is the final common pathway for a number of different pathological processes, it is possible that this exponential only applies to syringomyelia related to treatment of Chiari malformation Type I. PMID:21882909

  8. Posterior cranial fossa box expansion leads to resolution of symptomatic cerebellar ptosis following Chiari I malformation repair.

    PubMed

    Heller, Justin B; Lazareff, Jorge; Gabbay, Joubin S; Lam, Sandi; Kawamoto, Henry K; Bradley, James P

    2007-03-01

    Chiari I malformation occurs when the cerebellar tonsils herniate downward through the foramen magnum into the upper cervical spinal canal. If the posterior fossa craniectomy during corrective surgery leads to excessive enlargement of the foramen magnum, the complication of cerebellar ptosis may result. To treat this difficult problem a posterior cranial fossa box expansion was devised and studied. Patients who developed symptomatic cerebellar ptosis (confirmed by MRI) following cranial vault decompression for Chiari I malformations underwent a posterior fossa box expansion (n=7). This procedure involved coverage of posterior aspect of the enlarged foramen magnum with a split-thickness calvarial bone graft box. The box reconstruction provided separation between the neck musculature, soft tissues from the neural tissue; prevention of cerebellar prolapse; and expansion of the posterior cranial vault. Patients had a mean of 12+/-1 months between initial suboccipital craniectomy and confirmation of symptomatic cerebellar ptosis. Mean age at the time of posterior fossa box reconstruction was 31+/-9 years (range of 14 to 44 years). Preoperative symptoms of headache (7/7, 100%), upper extremity numbness (5/7, 71%) or paresthesias (3/7, 43%), respiratory disturbance (2/7, 29%) and inability to walk (2/7, 29%) improved in all patients postoperatively. At more than 12 month follow-up 6/7 patients (86%) were both disease-free (MRI confirmation) and symptom-free. One out of seven patients had return of headache in a more mild form. Thus, in our patient group the posterior fossa box reconstruction led to resolution of symptomatic cerebellar ptosis following Chiari I malformation repair. PMID:17414275

  9. Outcomes after suboccipital decompression without dural opening in children with Chiari malformation Type I

    PubMed Central

    Kennedy, Benjamin C.; Kelly, Kathleen M.; Phan, Michelle Q.; Bruce, Samuel S.; McDowell, Michael M.; Anderson, Richard C. E.; Feldstein, Neil A.

    2015-01-01

    Object Symptomatic pediatric Chiari malformation Type I (CM-I) is most often treated with posterior fossa decompression (PFD), but controversy exists over whether the dura needs to be opened during PFD. While dural opening as a part of PFD has been suggested to result in a higher rate of resolution of CM symptoms, it has also been shown to lead to more frequent complications. In this paper, the authors present the largest reported series of outcomes after PFD without dural opening surgery, as well as identify risk factors for recurrence. Methods The authors performed a retrospective review of 156 consecutive pediatric patients in whom the senior authors performed PFD without dural opening from 2003 to 2013. Patient demographics, clinical symptoms and signs, radiographic findings, intraoperative ultrasound results, and neuromonitoring findings were reviewed. Univariate and multivariate regression analyses were performed to determine risk factors for recurrence of symptoms and the need for reoperation. Results Over 90% of patients had a good clinical outcome, with improvement or resolution of their symptoms at last follow-up (mean 32 months). There were no major complications. The mean length of hospital stay was 2.0 days. In a multivariate regression model, partial C-2 laminectomy was an independent risk factor associated with reoperation (p = 0.037). Motor weakness on presentation was also associated with reoperation but only with trend-level significance (p = 0.075). No patient with < 8 mm of tonsillar herniation required reoperation. Conclusions The vast majority (> 90%) of children with symptomatic CM-I will have improvement or resolution of symptoms after a PFD without dural opening. A non–dural opening approach avoids major complications. While no patient with tonsillar herniation < 8 mm required reoperation, children with tonsillar herniation at or below C-2 have a higher risk for failure when this approach is used. PMID:25932779

  10. The Cerebellar Dysplasia of Chiari II Malformation as Revealed by Eye Movements

    PubMed Central

    Salman, Michael S.; Dennis, Maureen; Sharpe, James A.

    2011-01-01

    Introduction Chiari type II malformation (CII) is a developmental deformity of the hindbrain. We have previously reported that many patients with CII have impaired smooth pursuit, while few make inaccurate saccades or have an abnormal vestibulo-ocular reflex. In contrast, saccadic adaptation and visual fixation are normal. In this report, we correlate results from several eye movement studies with neuroimaging in CII. We present a model for structural changes within the cerebellum in CII. Methods Saccades, smooth pursuit, the vestibulo-ocular reflex, and visual fixation were recorded in 21 patients with CII, aged 8–19 years and 39 age-matched controls, using an infrared eye tracker. Qualitative and quantitative MRI data were correlated with eye movements in 19 CII patients and 28 controls. Results Nine patients with CII had abnormal eye movements. Smooth pursuit gain was subnormal in eight, saccadic accuracy abnormal in four, and vestibulo-ocular reflex gain abnormal in three. None had fixation instability. Patients with CII had a significantly smaller cerebellar volume than controls, and those with normal eye motion had an expanded midsagittal vermis compared to controls. However, patients with abnormal eye movements had a smaller (non-expanded) midsagittal vermis area, posterior fossa area and medial cerebellar volumes than CII patients with normal eye movements. Conclusions The deformity of CII affects the structure and function of the cerebellum selectively and differently in those with abnormal eye movements. We propose that the vermis can expand when compressed within a small posterior fossa in some CII patients, thus sparing its ocular motor functions. PMID:19960749

  11. Natural and surgical history of Chiari malformation Type I in the pediatric population.

    PubMed

    Pomeraniec, I Jonathan; Ksendzovsky, Alexander; Awad, Ahmed J; Fezeu, Francis; Jane, John A

    2016-03-01

    OBJECT The natural and surgical history of Chiari malformation Type I (CM-I) in pediatric patients is currently not well described. In this study the authors discuss the clinical and radiological presentation and outcomes in a large cohort of pediatric CM-I patients treated with either conservative or surgical management. METHODS The authors retrospectively reviewed 95 cases involving pediatric patients with CM-I who presented between 2004 and 2013. The patients ranged in age from 9 months to 18 years (mean 8 years) at presentation. The cohort was evenly split between the sexes. Twenty-five patients underwent posterior fossa decompression (PFD) with either dural splitting or duraplasty. Seventy patients were managed without surgery. Patients were followed radiologically (mean 44.8 months, range 1.2-196.6 months) and clinically (mean 66.3 months, range 1.2-106.5 months). RESULTS Seventy patients were treated conservatively and followed with serial outpatient neurological and radiological examinations, whereas 25 patients were treated with PFD. Of these 25 surgical patients, 11 were treated with duraplasty (complete dural opening) and 14 were treated with a dura-splitting technique (incomplete dural opening). Surgical intervention was associated with better clinical resolution of symptoms and radiological resolution of tonsillar ectopia and syringomyelia (p = 0.0392). Over the course of follow-up, 20 (41.7%) of 48 nonsurgical patients who were symptomatic at presentation experienced improvement in symptoms and 18 (75%) of 24 symptomatic surgical patients showed clinical improvement (p = 0.0117). There was no statistically significant difference in resolution of symptoms between duraplasty and dura-splitting techniques (p = 0.3572) or between patients who underwent tonsillectomy and tonsillopexy (p = 0.1667). Neither of the 2 patients in the conservative group with syrinx at presentation showed radiological evidence of resolution of the syrinx, whereas 14 (87.5%) of 16 patients treated with surgery showed improvement or complete resolution of syringomyelia (p = 0.0392). In the nonsurgical cohort, 3 patients (4.3%) developed new or increased syrinx. CONCLUSIONS The overwhelming majority of CM-I patients (92.9%) managed conservatively do not experience clinical or radiological progression, and a sizeable minority (41.7%) of those who present with symptoms improve. However, appropriately selected symptomatic patients (sleep apnea and dysphagia) and those presenting with syringomyelia should be considered surgical candidates because of the high rates of clinical (75%) and radiological improvement (87.5%). PMID:26588459

  12. Multimodal evaluation of CSF dynamics following extradural decompression for Chiari malformation Type I.

    PubMed

    Quon, Jennifer L; Grant, Ryan A; DiLuna, Michael L

    2015-06-01

    OBJECT Extradural decompression is a minimally invasive technique for treating Chiari malformation Type I (CM-I) that avoids the complications of dural opening. While there is no agreement on which surgical method is optimal, mounting evidence demonstrates that extradural decompression effectively treats clinical symptoms, with a minimal reoperation rate. Neurological symptoms such as headache may be related to obstructed flow of CSF, and one aspect of successful extradural decompression is improved CSF dynamics. In this series, the authors report on their use of phase-contrast cine flow MRI to assess CSF flow as well as satisfactory decompression. METHODS The authors describe their first surgical series of 18 patients with CM-I undergoing extradural decompression and correlate clinical improvement with radiological changes. Patients were categorized as having complete, partial, or no resolution of their symptoms. Posterior fossa area, cisterna magna area, and tonsillar herniation were assessed on T2-weighted MRI, whereas improvement of CSF flow was evaluated with phase-contrast cine flow MRI. All patients received standard pre- and postoperative MRI studies; 8 (44.4%) patients had pre- and postoperative phase-contrast cine, while the rest underwent cine studies only postoperatively. RESULTS All 18 patients presented with symptomatic CM-I, with imaging studies demonstrating tonsillar herniation ? 5 mm, and 2 patients had associated syringomelia. All patients underwent suboccipital decompression and C-1 laminectomy with splitting of the dura. Patients with complete resolution of their symptoms had a greater relative increase in cisterna magna area compared with those with only partial improvement (p = 0.022). In addition, in those with complete improvement the preoperative cisterna magna area was smaller than in those who had either partial (0.020) or no (0.025) improvement. Ten (91%) of the 11 patients with improved flow also had improvement in their symptoms. There was 1 postoperative complication of dysphagia and dysphonia. None of the patients have required a second operation. CONCLUSIONS Extradural decompression has the potential to be the first-line treatment for CM-I but has been lacking an objective measure by which to assess surgical success as well as the need for reoperation. An increase in the CSF spaces and improved CSF dynamics may be associated with resolution of clinical symptoms. Including cine imaging as part of routine pre- and postoperative evaluation can help identify which patients are most likely to benefit from surgery. PMID:25746119

  13. Posterior odontoid process angulation in pediatric Chiari I malformation: an MRI morphometric external validation study.

    PubMed

    Ladner, Travis R; Dewan, Michael C; Day, Matthew A; Shannon, Chevis N; Tomycz, Luke; Tulipan, Noel; Wellons, John C

    2015-08-01

    OBJECT Osseous anomalies of the craniocervical junction are hypothesized to precipitate the hindbrain herniation observed in Chiari I malformation (CM-I). Previous work by Tubbs et al. showed that posterior angulation of the odontoid process is more prevalent in children with CM-I than in healthy controls. The present study is an external validation of that report. The goals of our study were 3-fold: 1) to externally validate the results of Tubbs et al. in a different patient population; 2) to compare how morphometric parameters vary with age, sex, and symptomatology; and 3) to develop a correlative model for tonsillar ectopia in CM-I based on these measurements. METHODS The authors performed a retrospective review of 119 patients who underwent posterior fossa decompression with duraplasty at the Monroe Carell Jr. Children's Hospital at Vanderbilt University; 78 of these patients had imaging available for review. Demographic and clinical variables were collected. A neuroradiologist retrospectively evaluated preoperative MRI examinations in these 78 patients and recorded the following measurements: McRae line length; obex displacement length; odontoid process parameters (height, angle of retroflexion, and angle of retroversion); perpendicular distance to the basion-C2 line (pB-C2 line); length of cerebellar tonsillar ectopia; caudal extent of the cerebellar tonsils; and presence, location, and size of syringomyelia. Odontoid retroflexion grade was classified as Grade 0, > 90°; Grade I,85°-89°; Grade II, 80°-84°; and Grade III, < 80°. Age groups were defined as 0-6 years, 7-12 years, and 13-17 years at the time of surgery. Univariate and multivariate linear regression analyses, Kruskal-Wallis 1-way ANOVA, and Fisher's exact test were performed to assess the relationship between age, sex, and symptomatology with these craniometric variables. RESULTS The prevalence of posterior odontoid angulation was 81%, which is almost identical to that in the previous report (84%). With increasing age, the odontoid height (p < 0.001) and pB-C2 length (p < 0.001) increased, while the odontoid process became more posteriorly inclined (p = 0.010). The pB-C2 line was significantly longer in girls (p = 0.006). These measurements did not significantly correlate with symptomatology. Length of tonsillar ectopia in pediatric CM-I correlated with an enlarged foramen magnum (p = 0.023), increasing obex displacement (p = 0.020), and increasing odontoid retroflexion (p < 0.001). CONCLUSIONS Anomalous bony development of the craniocervical junction is a consistent feature of CM-I in children. The authors found that the population at their center was characterized by posterior angulation of the odontoid process in 81% of cases, similar to findings by Tubbs et al. (84%). The odontoid process appeared to lengthen and become more posteriorly inclined with age. Increased tonsillar ectopia was associated with more posterior odontoid angulation, a widened foramen magnum, and an inferiorly displaced obex. PMID:26053869

  14. Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs

    PubMed Central

    Lemay, Philippe; Knowler, Susan P.; Bouasker, Samir; Nédélec, Yohann; Platt, Simon; Freeman, Courtenay; Child, Georgina; Barreiro, Luis B.; Rouleau, Guy A.; Rusbridge, Clare; Kibar, Zoha

    2014-01-01

    Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs) on 5 Canis Familiaris Autosomes (CFAs): CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F) and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE) and the height of the brain (FG) were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P?=?0.0421, P?=?0.0094 respectively). The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene. PMID:24740420

  15. Chiari I Malformation Associated with Atlanto-Occipital Assimilation Presenting as Orthopnea and Cough Syncope: A Case Report and Review of Literature

    PubMed Central

    Mangubat, Erwin Zeta; Wilson, Tom; Mitchell, Brian A.; Byrne, Richard W.

    2013-01-01

    Although it is not uncommon for patients with Chiari I malformations to present with respiratory complaints, cough syncope is a rare presenting symptom. We report an adult patient who harbored both a Chiari I malformation and atlanto-occipital assimilation who complained of cough syncope, orthopnea, and central sleep apnea. The patient underwent decompressive craniectomy of the posterior fossa and cervical level 2 laminectomy. However, due to a possible initial underappreciation of the profound narrowing of the foramen magnum as a result of these concomitant pathologies, the patient may have had continued impaired cerebrospinal fluid flow, leading to a symptomatic pseudomeningocele and requiring a more extensive decompression that included a cervical level 3 laminectomy as well as a temporary lumbar drain. On 2-year follow-up, he has remained asymptomatic. PMID:25083365

  16. Chiari I malformation associated with atlanto-occipital assimilation presenting as orthopnea and cough syncope: a case report and review of literature.

    PubMed

    Mangubat, Erwin Zeta; Wilson, Tom; Mitchell, Brian A; Byrne, Richard W

    2014-08-01

    Although it is not uncommon for patients with Chiari I malformations to present with respiratory complaints, cough syncope is a rare presenting symptom. We report an adult patient who harbored both a Chiari I malformation and atlanto-occipital assimilation who complained of cough syncope, orthopnea, and central sleep apnea. The patient underwent decompressive craniectomy of the posterior fossa and cervical level 2 laminectomy. However, due to a possible initial underappreciation of the profound narrowing of the foramen magnum as a result of these concomitant pathologies, the patient may have had continued impaired cerebrospinal fluid flow, leading to a symptomatic pseudomeningocele and requiring a more extensive decompression that included a cervical level 3 laminectomy as well as a temporary lumbar drain. On 2-year follow-up, he has remained asymptomatic. PMID:25083365

  17. A minimally invasive technique for decompression of Chiari malformation type I (DECMI study): study protocol for a randomised controlled trial

    PubMed Central

    Hu, Yu; Liu, Jiagang; Chen, Haifeng; Jiang, Shu; Li, Qiang; Fang, Yuan; Gong, Shuhui; Wang, Yuelong; Huang, Siqing

    2015-01-01

    Introduction Chiari malformation type I (CM-I) is a congenital hindbrain anomaly that requires surgical decompression in symptomatic patients. Posterior fossa decompression with duraplasty (PFDD) has been widely practiced in Chiari decompression, but dural opening carries a high risk of surgical complications. A minimally invasive technique, dural splitting decompression (DSD), preserves the inner layer of the dura without dural opening and duraplasty, potentially reducing surgical complications, length of operative time and hospital stay, and cost. If DSD is non-inferior to PFDD in terms of clinical improvement, DSD could be an alternative treatment modality for CM-I. So far, no randomised study of surgical treatment of CM-I has been reported. This study aims to evaluate if DSD is an effective, safe and cost-saving treatment modality for adult CM-I patients, and may provide evidence for using the minimally invasive procedure extensively. Methods and analysis DECMI is a randomised controlled, single-masked, non-inferiority, single centre clinical trial. Participants meeting the criteria will be randomised to the DSD group and the PFDD group in a 1:1 ratio. The primary outcome is the rate of clinical improvement, which is defined as the complete resolution or partial improvement of the presenting symptoms/signs. The secondary outcomes consist of the incidence of syrinx reduction, postoperative morbidity rates, reoperation rate, quality of life (QoL) and healthcare resource utilisation. A total of 160 patients will be included and followed up at 3 and 12?months postoperatively. Ethics and dissemination The study protocol was approved by the Biological and Medical Ethics Committee of West China Hospital. The findings of this trial will be published in a peer-reviewed scientific journal and presented at scientific conferences. Trial registration number ChiCTR-TRC-14004099. PMID:25926152

  18. The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry

    PubMed Central

    Ferreira, Jânio A.; Botelho, Ricardo V.

    2015-01-01

    Background: Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. Methods: We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry. Results: A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000). Conclusions: CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle). PMID:26229733

  19. Pediatric Chiari

    MedlinePLUS

    ... Chiari (must see!!) Chiari PSA Quick Facts About Pediatric Chiari Although it is estimated that Chiari affects ... helping you understand the condition. Click on "Browse Pediatric" in the navigation bar to find patient literature ...

  20. The association between sleep-disordered breathing and magnetic resonance imaging findings in a pediatric cohort with Chiari 1 malformation

    PubMed Central

    Amin, Reshma; Sayal, Priya; Sayal, Aarti; Massicote, Colin; Pham, Robin; Al-Saleh, Suhail; Drake, James; Narang, Indra

    2015-01-01

    BACKGROUND: The prevalence of sleep-disordered breathing (SDB) reported in the literature for Chiari malformation type 1 (CM1) is uniformly high (24% to 70%). In Canada, there is limited access to pediatric polysomnography (PSG). Therefore, the identification of clinical features would be invaluable for triaging these children. OBJECTIVE: To identify demographic features, clinical symptoms/signs and radiological findings associated with SDB in a large pediatric cohort with CM1. METHODS: A retrospective review was conducted on children with CM1 who underwent baseline PSG. Data were collected on patient demographics (age, sex, weight, height, body mass index), clinical symptoms (chart review and clinical questionnaires), diagnostic imaging of the brain and cervicothoracic spine, and medical history at the time of referral. RESULTS: A total of 68 children were included in the review. The mean (± SD) age of the children at the time of PSG was 7.33±4.01 years; 56% (n=38) were male. There was a 49% prevalence of SDB in this cohort based on the overall apnea-hypopnea index. Obstructive sleep apnea was the predominant type of SDB. Tonsillar herniation was significantly correlated with obstructive apnea-hypopnea index (r=0.24; P=0.036). CONCLUSIONS: A direct relationship between the degree of cerebellar tonsillar herniation and obstructive sleep apnea was demonstrated. However, further prospective studies that include neurophysiological assessment are needed to further translate the central nervous system imaging findings to predict the presence of SDB. PMID:25379655

  1. Foramen magnum decompression surgery in 23 Chiari-like malformation patients 2007–2010: Outcomes and owner survey results

    PubMed Central

    Ortinau, Nora; Vitale, Samantha; Akin, Erin Y.; Beasley, Michaela; Shores, Andy

    2015-01-01

    Chiari-like malformation (CLM) with syringomyelia (SM) in dogs is particularly prominent in the Cavalier King Charles spaniel breed, but has also been reported in several other small breed dogs. Over a period of 3 years, 23 canine patients were treated surgically for CLM-SM. Surgery consisted of foramen magnum decompression, durotomy, duraplasty, and free autogenous adipose tissue grafting (fat graft). All patients were re-evaluated clinically at least 1 month after surgery and some up to 3 years after surgery. Improvement was noted on all clinical evaluations. A questionnaire was mailed to all 23 owners after a period of at least 1 year after surgery. Seventeen surveys were returned. No patient has required additional surgery to date, 94% (16/17) had some improvement in quality of life after surgery, and none were judged to deteriorate to less than the pre-surgical status. The authors conclude that this surgical procedure, combined with medical therapy, resulted in favorable long-term outcomes. PMID:25750451

  2. Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation

    PubMed Central

    2012-01-01

    Background Chiari-like malformation (CM) and syringomyelia is a neurological disease complex with high prevalence in cavalier King Charles spaniels (CKCS). The natural progression of this disease with time has not been described. The objectives of this study were to i) determine if syringomyelia progresses with time ii) determine if features of craniocrebral morphology previously associated with CM are progressive (including caudal cranial fossa volume, caudal cranial fossa parenchymal volume, ventricular dimensions, height of the foramen magnum and degree of cerebellar herniation). A retrospective morphometric analysis was undertaken in 12 CKCS with CM for which repeat magnetic resonance images were available without surgical intervention. Results The maximal syrinx width, height of the foramen magnum, length of cerebellar herniation and caudal cranial fossa volume increased over time. Ventricular and caudal fossa parenchymal volumes were not significantly different between scans. Conclusions The results of this study suggest that syringomyelia progresses with time. Increased caudal cranial fossa volume may be associated with active resorption of the supraoccipital bone, which has previously been found in histology specimens from adult CKCS. We hypothesise that active resorption of the supraoccipital bone occurs due to pressure from the cerebellum. These findings have important implications for our understanding of the pathogenesis and variable natural clinical progression of CM and syringomyelia in CKCS. PMID:23136935

  3. Trigeminal neuralgia associated with Chiari 1 malformation: symptom resolution following craniocervical decompression and duroplasty: Case report and review of the literature

    PubMed Central

    Loch-Wilkinson, Thorbjorn; Tsimiklis, Chrisovalantis; Santoreneos, Stephen

    2015-01-01

    Background: Trigeminal neuralgia (TN) may rarely be the presenting or only symptom of Chiari 1 malformation (CM). Isolated case reports have described resolution of TN following craniocervical decompression where TN is present in association with CM. Case Report: This report discusses an unusual case of pure TN associated with CM that was successfully treated with craniocervical decompression and duroplasty and reviews the limited literature on the subject. Conclusion: TN may be the sole presenting symptom of CM and can be successfully managed with craniocervical decompression. Clinicians should be aware of the association of TN with CM and consider surgical management. PMID:26236551

  4. Rate of Chiari I Malformation in Children of Mothers with Depression with and without Prenatal SSRI Exposure

    PubMed Central

    Knickmeyer, Rebecca C; Meltzer-Brody, Samantha; Woolson, Sandra; Hamer, Robert M; Smith, J Keith; Lury, Kenneth; Gilmore, John H

    2014-01-01

    Selective serotonin reuptake inhibitors (SSRIs) are frequently prescribed to pregnant women. Therefore, research on in utero exposure to SSRIs can be helpful in informing patients and clinicians. The aim of this retrospective two-cohort study was to determine whether there is a statistically significant increase in Chiari I malformations (CIM) in children exposed to SSRIs during pregnancy. A total of 33 children whose mothers received a diagnosis of depression and took SSRIs during pregnancy (SSRI-exposed cohort) were matched to 66 children with no history of maternal depression and no SSRI exposure. In addition, 30 children whose mothers received a diagnosis of depression, but did not receive antidepressants during pregnancy (history of maternal depression cohort), were matched to 60 children with no history of maternal depression and no SSRI exposure. Main outcome was presence/absence of CIM on MRI scans at 1 and/or 2 years of age. Scans were reviewed by two independent neuroradiologists who were blind to exposure status. The SSRI-exposed children were significantly more likely to be classified as CIM than comparison children with no history of maternal depression and no SSRI exposure (18% vs 2%, p=0.003, OR estimate 10.32, 95% Wald confidence limits 2.04–102.46). Duration of SSRI exposure, SSRI exposure at conception, and family history of depression increased the risk. The history of maternal depression cohort did not differ from comparison children with no history of maternal depression and no SSRI exposure in occurrence of CIM (7% vs 5%, p=0.75, OR estimate 1.44, 95% Wald confidence limits 0.23–7.85). Replication is needed, as is additional research to clarify whether SSRIs directly impact risk for CIM or whether this relationship is mediated by severity of depressive symptoms during pregnancy. We would discourage clinicians from altering their prescribing practices until such research is available. PMID:24837031

  5. Conquer Chiari

    MedlinePLUS

    Recent Articles NEW! Research News: Conquer Chiari Receives $40,000 Research Grant Research Article: Resolving CM-1 in Children: The Question of ... Chiari Symptoms Affect Daily Activity Participate in Chiari Research NEW! Do you have Chiari? Do you have a ...

  6. Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone.

    PubMed

    Dhandapani, Sivashanmugam; Srinivasan, Anirudh

    2016-01-01

    Triple spinal dysraphism is extremely rare. There are published reports of multiple discrete neural tube defects with intervening normal segments that are explained by the multisite closure theory of primary neurulation, having an association with Chiari malformation Type II consistent with the unified theory of McLone. The authors report on a 1-year-old child with contiguous myelomeningocele and lipomyelomeningocele centered on Type I split cord malformation with Chiari malformation Type II and hydrocephalus. This composite anomaly is probably due to select abnormalities of the neurenteric canal during gastrulation, with a contiguous cascading impact on both dysjunction of the neural tube and closure of the neuropore, resulting in a small posterior fossa, probably bringing the unified theory of McLone closer to the unified theory of Pang. PMID:26474100

  7. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.

    PubMed

    Boyles, Abee L; Enterline, David S; Hammock, Preston H; Siegel, Deborah G; Slifer, Susan H; Mehltretter, Lorraine; Gilbert, John R; Hu-Lince, Diane; Stephan, Dietrich; Batzdorf, Ulrich; Benzel, Edward; Ellenbogen, Richard; Green, Barth A; Kula, Roger; Menezes, Arnold; Mueller, Diane; Oro', John J; Iskandar, Bermans J; George, Timothy M; Milhorat, Thomas H; Speer, Marcy C

    2006-12-15

    Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions. PMID:17103432

  8. Evaluation of cerebrospinal fluid in Cavalier King Charles Spaniel dogs diagnosed with Chiari-like malformation with or without concurrent syringomyelia.

    PubMed

    Whittaker, Danielle E; English, Kate; McGonnell, Imelda M; Volk, Holger A

    2011-03-01

    Syringomyelia is a common clinical problem in the Cavalier King Charles Spaniel dog population. The underlying pathophysiology of the development and progression of syringes is currently unknown. The primary aim of the current study was to determine whether development of syringomyelia is accompanied by alterations in cerebrospinal fluid composition. Patient records of Cavalier King Charles Spaniels with Chiari-like malformations, with or without concurrent syringomyelia, that had magnetic resonance imaging and cerebrospinal fluid analysis between December 2004 and December 2009, were retrospectively reviewed. Total nucleated cell count per microliter, with differential count, red blood cell count per microliter, and protein concentration (g/l), were reviewed. Data were analyzed with the Mann-Whitney U-test. Spearman rank test was used to test association between cerebrospinal fluid composition and syrinx size, and the Fisher exact test was used to compare the presence of macrophages, reactive lymphocytes, and myelin. A P value of ? 0.05 was considered significant for statistical tests. Dogs with syringomyelia had a higher total nucleated cell count (syringomyelia: 4/µl [range, 0-15/µl] vs. without syringomyelia: 2/µl [0-8/µl]; P ?=? 0.0047), higher protein concentration (syringomyelia: 0.26 g/l [0.07-0.42 g/l] vs. without syringomyelia: 0.2 g/l [0.12-0.39 g/l]; P ?=? 0.039), and an increased neutrophil percentage (syringomyelia: 0% [0-37%] vs. without syringomyelia: 0% [0-21%]; P ?=? 0.0203) than those with the Chiari-like malformation alone. There was a positive correlation between total nucleated cell count and syrinx size (r ?=? 0.51; P ?=? 0.0068). Development of syringomyelia is accompanied by alterations in cerebrospinal fluid composition. The pathogenesis of syringomyelia has not been fully elucidated; therefore, the exact origin of cerebrospinal fluid changes remains unclear. PMID:21398451

  9. Chiari Malformation: Diagnosis

    MedlinePLUS

    ... light touch, a tuning fork to test for vibration, and pin pricks. The exam will test sensation ... resonance imaging process involves M agnets, R esonance (vibration), and I maging (creating pictures). What to expect: ...

  10. Foramen Magnum Decompression and Duraplasty is Superior to Only Foramen Magnum Decompression in Chiari Malformation Type 1 Associated with Syringomyelia in Adults

    PubMed Central

    Berkman, Mehmet Zafer; Ünal, Emre; Akp?nar, Elif; Gök, ?evki; Orakdö?en, Metin; Ayd?n, Salih

    2015-01-01

    Study Design Retrospective cohort study. Purpose To compare surgical results of foramen magnum decompression with and without duraplasty in Chiari malformation type 1 (CM-1) associated syringomyelia (SM). Overview of Literature The optimal surgical treatment of CM-1 associated with SM is unclear. Methods Twenty-five cases of CM-1 with SM were included. There were 12 patients (48%) in the non-duraplasty group and 13 patients (52%) in the duraplasty group. The rate of improvement, state of postoperative SM size, amount of tonsillar herniation, preoperative symptom duration, complications and reoperation rates were analysed. Results The rate of clinical improvement was significantly higher with duraplasty (84.6%) than without (33.3%, p <0.05). The rate of postoperative syrinx regression was significantly higher in the duraplasty group (84.6%) than in the non-duraplasty group (33.3%, p <0.05). One case in the duraplasty group needed a reoperation compared with five cases in the non-duraplasty group (p =0.059). Conclusions Duraplasty is superior to non-duraplasty in CM-1 associated with SM despite a slightly higher complication rate. PMID:26435790

  11. Increase in Cerebellar Volume in Cavalier King Charles Spaniels with Chiari-like Malformation and Its Role in the Development of Syringomyelia

    PubMed Central

    Shaw, Thomas A.; McGonnell, Imelda M.; Driver, Colin J.; Rusbridge, Clare; Volk, Holger A.

    2012-01-01

    Previous research in Cavalier King Charles Spaniels (CKCS) has found that Chiari-like malformation and syringomyelia (CM/SM) are associated with a volume mismatch between the caudal cranial fossa (CCF) and the brain parenchyma contained within. The objectives of this study were to i) compare cerebellar volume in CKCS (a “high risk’ group which frequently develops CM/SM), small breed dogs (medium risk – occasionally develop CM/SM), and Labradors (low risk – CM/SM not reported); ii) evaluate a possible association between increased cerebellar volume and CM/SM in CKCS; iii) investigate the relationship between increased cerebellar volume and crowding of the cerebellum in the caudal part of the CCF (i.e. the region of the foramen magnum). Volumes of three-dimensional, magnetic resonance imaging derived models of the CCF and cerebellum were obtained from 75 CKCS, 44 small breed dogs, and 31 Labradors. As SM is thought to be a late onset disease process, two subgroups were formed for comparison: 18 CKCS younger than 2 years with SM (CM/SM group) and 13 CKCS older than 5 years without SM (CM group). Relative cerebellar volume was defined as the volume of the cerebellum divided by the total volume of brain parenchyma. Our results show that the CKCS has a relatively larger cerebellum than small breed dogs and Labradors and provide evidence that increased cerebellar volume in CKCS is associated with crowding of cerebellum in the caudal part of the CCF. In CKCS there is an association between increased cerebellar volume and SM. These findings have implications for the understanding of the pathological mechanisms of CM/SM, and support the hypothesis that it is a multifactorial disease process governed by increased cerebellar volume and failure of the CCF to reach a commensurate size. PMID:22506005

  12. Clinical significance of changes in pB-C2 distance in patients with Chiari Type I malformations following posterior fossa decompression: a single-institution experience.

    PubMed

    Bonney, Phillip A; Maurer, Adrian J; Cheema, Ahmed A; Duong, Quyen; Glenn, Chad A; Safavi-Abbasi, Sam; Stoner, Julie A; Mapstone, Timothy B

    2016-03-01

    OBJECT The coexistence of Chiari malformation Type I (CM-I) and ventral brainstem compression (VBSC) has been well documented, but the change in VBSC after posterior fossa decompression (PFD) has undergone little investigation. In this study the authors evaluated VBSC in patients with CM-I and determined the change in VBSC after PFD, correlating changes in VBSC with clinical status and the need for further intervention. METHODS Patients who underwent PFD for CM-I by the senior author from November 2005 to January 2013 with complete radiological records were included in the analysis. The following data were obtained: objective measure of VBSC (pB-C2 distance); relationship of odontoid to Chamberlain's, McGregor's, McRae's, and Wackenheim's lines; clival length; foramen magnum diameter; and basal angle. Statistical analyses were performed using paired t-tests and a mixed-effects ANOVA model. RESULTS Thirty-one patients were included in the analysis. The mean age of the cohort was 10.0 years. There was a small but statistically significant increase in pB-C2 postoperatively (0.5 mm, p < 0.0001, mixed-effects ANOVA). Eleven patients had postoperative pB-C2 values greater than 9 mm. The mean distance from the odontoid tip to Wackenheim's line did not change after PFD, signifying postoperative occipitocervical stability. No patients underwent transoral odontoidectomy or occipitocervical fusion. No patients experienced clinical deterioration after PFD. CONCLUSIONS The increase in pB-C2 in patients undergoing PFD may occur as a result of releasing the posterior vector on the ventral dura, allowing it to relax posteriorly. This increase appears to be well-tolerated, and a postoperative pB-C2 measurement of more than 9 mm in light of stable craniocervical metrics and a nonworsened clinical examination does not warrant further intervention. PMID:26613273

  13. Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

    PubMed Central

    Markunas, Christina A.; Soldano, Karen; Dunlap, Kaitlyn; Cope, Heidi; Asiimwe, Edgar; Stajich, Jeffrey; Enterline, David; Grant, Gerald; Fuchs, Herbert

    2013-01-01

    Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two individuals presenting with nonsyndromic CMI with or without syringomyelia. Initial findings across all 66 families showed minimal evidence for linkage due to suspected genetic heterogeneity. In order to improve power to localize susceptibility genes, stratified linkage analyses were performed using clinical criteria to differentiate families based on etiologic factors. Families were stratified on the presence or absence of clinical features associated with connective tissue disorders (CTDs) since CMI and CTDs frequently co-occur and it has been proposed that CMI patients with CTDs represent a distinct class of patients with a different underlying disease mechanism. Stratified linkage analyses resulted in a marked increase in evidence of linkage to multiple genomic regions consistent with reduced genetic heterogeneity. Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of “CTD-negative” families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). Interestingly, roughly 3–5% of CMI patients are diagnosed with KFS. In order to investigate the possibility that CMI and KFS are allelic, GDF3 and GDF6 were sequenced leading to the identification of a previously known KFS missense mutation and potential regulatory variants in GDF6. This study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implicating several convincing biological candidates and further supporting the hypothesis that multiple, distinct mechanisms are responsible for CMI. PMID:23620759

  14. A prospective natural history study of nonoperatively managed Chiari I malformation: does follow-up MRI surveillance alter surgical decision making?

    PubMed

    Whitson, Wesley J; Lane, Jessica R; Bauer, David F; Durham, Susan R

    2015-08-01

    OBJECT Chiari malformation Type I (CM-I) in children is a common incidental finding. Resolution of cerebellar tonsil ectopia has been reported, but no studies have followed tonsil position over regular intervals throughout childhood. To better elucidate the clinical and radiological natural history of CM-I in children, the authors prospectively followed up children with nonoperatively managed CM-I for up to 7 years. METHODS The study included all children evaluated for CM-I over a period of 12 years for whom surgery was not initially recommended. The study excluded patients with associated conditions, including syringomyelia and hydrocephalus. For all patients, initial management was nonoperative, and follow-up management consisted of annual cervical spine or brain MRI and clinical examination. At each follow-up examination, the neurological examination findings, subjective symptoms, and the position of the cerebellar tonsils on MR images were recorded. An alteration in tonsillar descent of 2 mm or greater was considered a change. RESULTS Neurological examination findings did not change over the course of the study in the 52 children who met the inclusion criteria. Although radiological changes were common, no surgeries were performed solely because of radiological change. Overall, tonsil position on radiological images remained stable in 50% of patients, was reduced in 38%, and increased in 12%. Resolution was seen in 12% of patients. Radiological changes in tonsil position were seen during every year of follow-up. On average, in any given year, 24% of images showed some form of change in tonsil position. A total of 3 patients, for whom no changes were seen on MR images, ultimately underwent surgery for subjective clinical reasons. CONCLUSIONS CM-I in children is not a radiologically static entity but rather is a dynamic one. Radiological changes were seen throughout the 7 years of follow-up. A reduction in tonsillar descent was substantially more common than an increase. Radiological changes did not correlate with neurological examination finding changes, symptom development, or the need for future surgery. Follow-up imaging of asymptomatic children with CM-I did not alter treatment for any patient. It would be reasonable to follow these children with clinical examinations but without regular surveillance MRI. PMID:25932776

  15. Arnold Hague's Saddle

    USGS Multimedia Gallery

    This is Arnold Hague's saddle. The saddle is likely about 120 years old and in the western style with a sheepskin liner. Arnold Hague used this saddle on his expeditions in the west. Object ID: USGS-000015...

  16. [Budd-Chiari syndrome].

    PubMed

    Plessier, A

    2013-12-01

    The management of the Budd-Chiari syndrome improved dramatically during the last 10 years and includes less invasive diagnostic modalities using modern imaging, identification of a myeloproliferative disorder in 20 to 50% of the patients using the V617F JAK2 mutation, and a graduate therapeutic strategy. The common association of Budd-Chiari syndrome with a thrombotic disorder is a reason for a thorough work-up (myeloproliferative disorder, defect in C or S protein, factor V Leiden, factor II mutation, antiphosholipid syndrome, and other less common disorders). Ultrasonography should to be performed by an experimented examiner, informed of the diagnostic suspicion. The 5-year survival rate of patients with Budd-Chiari syndrome, treated with this contemporary approach (anticoagulation, treatment of the underlying cause, recanalization, transjugular intrahepatic portosystemic shunting, and liver transplantation) is above 80%. PMID:24262409

  17. Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section.

    PubMed

    Shah, Tanmay H; Badve, Manasi S; Olajide, Kowe O; Skorupan, Havyn M; Waters, Jonathan H; Vallejo, Manuel C

    2011-07-01

    Patients with Klippel-Feil Syndrome (KFS) have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-year-old female, G2P1A0 with KFS (fusion of cervical vertebrae) who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiber-optic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS) is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III) precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus. PMID:24765318

  18. Arnold Hague's Chair

    USGS Multimedia Gallery

    A wooden, collapsible chair from Arnold Hague's expedition. Made of sassafras wood with interchangeable canvas covers. This chair can be collapsed into a roll that is packed up and transported easily. Object ID: USGS-000031...

  19. Arnold Hague's Bridle

    USGS Multimedia Gallery

    Arnold Hague used this bridle on his mapping expeditions of the west in the late 1800s. The metal accents are decorated with lucky horseshoes. This is just one example of the equipment used by field scientists in the care of animals that were used for transportation. Object ID: USGS-000020...

  20. Budd-Chiari syndrome

    PubMed Central

    Martens, Pieter

    2015-01-01

    Budd-Chiari syndrome (BCS) is a rare and potentially life-threatening disorder characterized by obstruction of the hepatic outflow tract at any level between the junction of the inferior vena cava with the right atrium and the small hepatic veins. In the West, BCS is a rare hepatic manifestation of one or more underlying prothrombotic risk factors. The most common underlying prothrombotic risk factor is a myeloproliferative disorder, although it is now recognized that almost half of patients have multiple underlying prothrombotic risk factors. Clinical manifestations can be diverse, making BCS a possible differential diagnosis of many acute and chronic liver diseases. The index of suspicion should be very low if there is a known underlying prothrombotic risk factor and new onset of liver disease. Doppler ultrasound is sufficient for confirming the diagnosis, although tomographic imaging (computed tomography (CT) or magnetic resonance imaging (MRI)) is often necessary for further treatment and discussion with a multidisciplinary team. Anticoagulation is the cornerstone of the treatment. Despite the use of anticoagulation, the majority of patients need additional (more invasive) treatment strategies. Algorithms consisting of local angioplasty, TIPS and liver transplantation have been proposed, with treatment choice dictated by a lack of response to a less-invasive treatment regimen. The application of these treatment strategies allows for a five-year survival rate of 90%. In the long term the disease course of BCS can sometimes be complicated by recurrence, progression of the underlying myeloproliferative disorder, or development of post-transplant lymphoma in transplant patients. PMID:26668741

  1. 75 FR 17169 - Nextera Energy Duane Arnold, LLC, Duane Arnold Energy Center; Exemption

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-05

    ... COMMISSION Nextera Energy Duane Arnold, LLC, Duane Arnold Energy Center; Exemption 1.0 Background NextEra Energy Duane Arnold, LLC, formerly FPL Energy Duane Arnold, LLC (the licensee) is the holder of Facility Operating License No. DPR- 49, which authorizes operation of the Duane Arnold Energy Center (Duane...

  2. 09-NIF Dedication: Arnold Schwarzenegger

    ScienceCinema

    Governor Arnold Schwarzenegger

    2010-09-01

    The National Ignition Facility, the world's largest laser system, was dedicated at a ceremony on May 29, 2009 at Lawrence Livermore National Laboratory. These are the remarks by California Governor Arnold Schwarzenegger.

  3. A rare combination: congenital factor VII deficiency with Chiari malformation.

    PubMed

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

    Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure. PMID:26248161

  4. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  5. 75 FR 13318 - Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Environmental Assessment and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-19

    ... COMMISSION Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Environmental Assessment and Finding... Operating License No. DPR-49, issued to NextEra Energy Duane Arnold, LLC (the licensee), for operation of the Duane Arnold Energy Center, located in Palo, Iowa. In accordance with 10 CFR 51.21, the...

  6. Transosseous cerebrospinal fluid fistula 14 years after Chiari decompression: presentation and management.

    PubMed

    Gandhoke, Gurpreet S; Hauptman, Jason S; Salvetti, David J; Weiner, Gregory M; Panigrahy, Ashok; Yilmaz, Sabri; Pollack, Ian F

    2015-08-01

    The authors report a unique case of a transosseous CSF fistula that was detected more than 10 years after treatment of a symptomatic Chiari I malformation. This lesion initially presented as an intraosseous cystic lesion involving the C-2 vertebra, which was found to communicate freely with the subarachnoid space through a tiny dural opening. Surgical management involved hemilaminectomy and repair of the dural defect followed by reinforcement of the bony defect with demineralized bone matrix. Following closure of the fistula, symptoms of elevated intracranial pressure developed, necessitating a ventriculoperitoneal shunt for CSF diversion. PMID:25978535

  7. ARNOLD MESA ROADLESS AREA, ARIZONA.

    USGS Publications Warehouse

    Wolfe, Edward W.; McColly, Robert A.

    1984-01-01

    Geologic geochemical, and aeromagnetic investigations and a survey of mines and prospects in the Arnold Mesa Roadless Area, Arizona, provide little evidence for the occurrence of mineral or energy resources. Buried Proterozoic basement rocks are possible hosts of porphyry-type copper and massive sulfide deposits but the thick cover of Paleozoic sedimentary rocks and upper Cenozoic volcanic rocks precluded assessment of this possibility. Chemistry and temperature of spring and well waters suggest that a geothermal resource may exist near the eastern margin of the roadless area, but the anomaly has not been tested by drilling and this resource remains unverified. No other energy resources were identified.

  8. Arteriovenous Malformation

    MedlinePLUS

    ... malformations. Other NINDS-funded investigators hope to develop biomarkers (signs that may indicate risk of a disease) ... Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, Building 3 Hanover, MA ...

  9. Brain Malformations

    MedlinePLUS

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  10. Benedict Arnold: A Question of Honor.

    ERIC Educational Resources Information Center

    Nicolosi, Annie; O'Connell, Libby Haight; Rust, Mead

    2003-01-01

    The spring 2003 The Idea Book for Educators highlights television programming from the Arts and Entertainment Network (A&E), the History Channel, and the Biography Channel, with a focus on an A&E original movie premiere, "Benedict Arnold: A Question of Honor." The booklet contains the following materials: "A&E Study Guide: Benedict Arnold: A…

  11. Matthew Arnold, the Masses, and Arts Education

    ERIC Educational Resources Information Center

    Pratt, Linda Ray

    2007-01-01

    In this article, the author examines the current arts education policies in the United States through the lens of Matthew Arnold's work and prose during his time as one of Her Majesty's School Inspectors in England and Wales in the nineteenth century. Arnold argued for government funding of public school systems, setting standards of quality for…

  12. Matthew Arnold, the Masses, and Arts Education

    ERIC Educational Resources Information Center

    Pratt, Linda Ray

    2007-01-01

    In this article, the author examines the current arts education policies in the United States through the lens of Matthew Arnold's work and prose during his time as one of Her Majesty's School Inspectors in England and Wales in the nineteenth century. Arnold argued for government funding of public school systems, setting standards of quality for…

  13. Arnold Hely and Australian Adult Education

    ERIC Educational Resources Information Center

    Morris, Roger

    2011-01-01

    Arnold Hely (1907-1967) was a most significant figure in the history of adult education in New Zealand, in Australia and internationally. Arnold Hely, a New Zealander, Director of Tutorial Classes (later Adult Education) at the University of Adelaide from 1957 to 1965, was the prime mover in the establishment in 1964 of the Asian South Pacific…

  14. Budd-Chiari syndrome secondary to toxic pyrrolizidine alkaloid exposure.

    PubMed

    Wu, Janet S W; Poon, W T; Ma, C K; Chen, M L; Pang, K S; Mak, Tony W L; Chan, H B

    2013-12-01

    In this report, we describe a case of pyrrolizidine alkaloid-related Budd-Chiari syndrome in Hong Kong. A 10-month-old boy presented with ascites, right pleural effusion, and hepatomegaly after consumption of herbal drinks for 3 months. His clinical (including imaging) features were compatible with Budd-Chiari syndrome. Budd-Chiari syndrome is a rare disease entity in paediatric patients. In our case, extensive workup performed to look for the underlying cause of Budd-Chiari syndrome was unrevealing, except for toxic pyrrolizidine alkaloid exposure in his herbal drinks. PMID:24310665

  15. Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations

    PubMed Central

    Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

    2015-01-01

    Study Design. This is a cross-sectional analysis of resonance magnetic images of 111 patients with craniocervical malformations and those of normal subjects. Objective. To test the hypothesis that atlas assimilation is associated with basilar invagination (BI) and atlas's anterior arch assimilation is associated with craniocervical instability and type I BI. Summary of Background Data. Atlas assimilation is the most common malformation in the craniocervical junction. This condition has been associated with craniocervical instability and BI in isolated cases. Methods. We evaluated midline Magnetic Resonance Images (MRIs) (and/or CT scans) from patients with craniocervical junction malformation and normal subjects. The patients were separated into 3 groups: Chiari type I malformation, BI type I, and type II. The atlas assimilations were classified according to their embryological origins as follows: posterior, anterior, and both arches assimilation. Results. We studied the craniometric values of 111 subjects, 78 with craniocervical junction malformation and 33 without malformations. Of the 78 malformations, 51 patients had Chiari type I and 27 had BI, of whom 10 presented with type I and 17 with type II BI. In the Chiari group, 41 showed no assimilation of the atlas. In the type I BI group, all patients presented with anterior arch assimilation, either in isolation or associated with assimilation of the posterior arch. 63% of the patients with type II BI presented with posterior arch assimilation, either in isolation or associated with anterior arch assimilation. In the control group, no patients had atlas assimilation. Conclusion. Anterior atlas assimilation leads to type I BI. Posterior atlas assimilation more frequently leads to type II BI. Separation in terms of anterior versus posterior atlas assimilation reflects a more accurate understanding of the clinical and embryological differences in craniocervical junction malformations. Level of Evidence: N/A PMID:26165213

  16. Three-dimensional tori and Arnold tongues

    NASA Astrophysics Data System (ADS)

    Sekikawa, Munehisa; Inaba, Naohiko; Kamiyama, Kyohei; Aihara, Kazuyuki

    2014-03-01

    This study analyzes an Arnold resonance web, which includes complicated quasi-periodic bifurcations, by conducting a Lyapunov analysis for a coupled delayed logistic map. The map can exhibit a two-dimensional invariant torus (IT), which corresponds to a three-dimensional torus in vector fields. Numerous one-dimensional invariant closed curves (ICCs), which correspond to two-dimensional tori in vector fields, exist in a very complicated but reasonable manner inside an IT-generating region. Periodic solutions emerge at the intersections of two different thin ICC-generating regions, which we call ICC-Arnold tongues, because all three independent-frequency components of the IT become rational at the intersections. Additionally, we observe a significant bifurcation structure where conventional Arnold tongues transit to ICC-Arnold tongues through a Neimark-Sacker bifurcation in the neighborhood of a quasi-periodic Hopf bifurcation (or a quasi-periodic Neimark-Sacker bifurcation) boundary.

  17. Three-dimensional tori and Arnold tongues

    SciTech Connect

    Sekikawa, Munehisa; Inaba, Naohiko; Kamiyama, Kyohei; Aihara, Kazuyuki

    2014-03-15

    This study analyzes an Arnold resonance web, which includes complicated quasi-periodic bifurcations, by conducting a Lyapunov analysis for a coupled delayed logistic map. The map can exhibit a two-dimensional invariant torus (IT), which corresponds to a three-dimensional torus in vector fields. Numerous one-dimensional invariant closed curves (ICCs), which correspond to two-dimensional tori in vector fields, exist in a very complicated but reasonable manner inside an IT-generating region. Periodic solutions emerge at the intersections of two different thin ICC-generating regions, which we call ICC-Arnold tongues, because all three independent-frequency components of the IT become rational at the intersections. Additionally, we observe a significant bifurcation structure where conventional Arnold tongues transit to ICC-Arnold tongues through a Neimark-Sacker bifurcation in the neighborhood of a quasi-periodic Hopf bifurcation (or a quasi-periodic Neimark-Sacker bifurcation) boundary.

  18. Allergy to Prolene Sutures in a Dural Graft for Chiari Decompression

    PubMed Central

    Cajigas, Iahn; Burks, S. Shelby; Gernsback, Joanna; Fine, Lauren; Moshiree, Baharak; Levi, Allan D.

    2015-01-01

    Allergy to Prolene suture is exceedingly rare with only 5 cases reported in the literature. There have been no such cases associated with neurosurgical procedures. Diagnosis is nearly always delayed in spite of persistent symptomatology. A 27-year-old girl with suspected Ehlers-Danlos, connective tissue disorder, underwent posterior fossa decompression for Chiari Type 1 malformation. One year later, the patient presented with urticarial rash from the neck to chest. Cerebrospinal fluid and blood testing, magnetic resonance imaging, and intraoperative exploration did not suggest allergic reaction. Eventually skin testing proved specific Prolene allergy. After suture material was removed, the patient no longer complained of pruritus or rash. This single case highlights the important entity of allergic reaction to suture material, namely, Prolene, which can present in a delayed basis. Symptomatology can be vague but has typical allergic characteristics. Multidisciplinary approach is helpful with confirmatory skin testing as a vital part of the workup. PMID:26798347

  19. Allergy to Prolene Sutures in a Dural Graft for Chiari Decompression.

    PubMed

    Cajigas, Iahn; Burks, S Shelby; Gernsback, Joanna; Fine, Lauren; Moshiree, Baharak; Levi, Allan D

    2015-01-01

    Allergy to Prolene suture is exceedingly rare with only 5 cases reported in the literature. There have been no such cases associated with neurosurgical procedures. Diagnosis is nearly always delayed in spite of persistent symptomatology. A 27-year-old girl with suspected Ehlers-Danlos, connective tissue disorder, underwent posterior fossa decompression for Chiari Type 1 malformation. One year later, the patient presented with urticarial rash from the neck to chest. Cerebrospinal fluid and blood testing, magnetic resonance imaging, and intraoperative exploration did not suggest allergic reaction. Eventually skin testing proved specific Prolene allergy. After suture material was removed, the patient no longer complained of pruritus or rash. This single case highlights the important entity of allergic reaction to suture material, namely, Prolene, which can present in a delayed basis. Symptomatology can be vague but has typical allergic characteristics. Multidisciplinary approach is helpful with confirmatory skin testing as a vital part of the workup. PMID:26798347

  20. Budd-Chiari syndrome and liver transplantation

    PubMed Central

    Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

    2015-01-01

    Summary Budd-Chiari syndrome involves obstruction of hepatic venous outflow tracts at various levels from small hepatic veins to the inferior vena cava and is the result of thrombosis or its fibrous sequelae. There is a conspicuous difference in its etiology in the West and the East. Myeloproliferative disease predominates in the West and obstruction of the vena cava predominates in the East. The clinical presentation and clinical manifestations are so varied that it should be suspected in any patient with acute or chronic liver dysfunction. It should be treated with step-wise management. First-line therapy should be anticoagulation with medical treatment of the underlying illness, and interventional revascularization and TIPS are indicated in the event of a lack of response to medical therapy. Liver transplantation may be indicated as a rescue treatment or for fulminant cases with promising results. This step-by-step strategy has achieved a 5-year transplant-free survival rate of 70% and a 5-year overall survival rate of 90%. Living donor liver transplantation can also be used for patients with Budd-Chiari syndrome if deceased donor livers are scarce, but it requires a difficult procedure particularly with regard to venous outflow reconstruction. PMID:25674385

  1. Taking Chiari to School: A Guide for Parents

    MedlinePLUS

    ... child Signature of Parent/Guardian Date Signature of School Nurse Date 9 Resources for parents Following are four resources for parents to obtain information on education law, assistive technologies, and pediatric Chiari. Parent Technical Assistance Centers Parent ...

  2. Congratulations to Vladimir Igorevich Arnol'd

    NASA Astrophysics Data System (ADS)

    2007-06-01

    12 June 2007 was the seventieth birthday of a member of the editorial board of this journal, Academician Vladimir Igorevich Arnol'd. We warmly congratulate Vladimir Igorevich on his birthday and wish him good health, happiness and continuing success in his scientific activities.

  3. Prosocial Youth: The Legacy of Arnold Goldstein

    ERIC Educational Resources Information Center

    Amendola, Mark; Oliver, Robert

    2008-01-01

    Arnold P. Goldstein served for over 30 years at Syracuse University where he directed the Center for Research on Aggression. His model of Aggression Replacement Training (ART) was enriched by diverse perspectives of many colleagues. This article highlights the ideas of three persons who strongly influenced Goldstein's work, namely, Jerome Frank,…

  4. Prosocial Youth: The Legacy of Arnold Goldstein

    ERIC Educational Resources Information Center

    Amendola, Mark; Oliver, Robert

    2008-01-01

    Arnold P. Goldstein served for over 30 years at Syracuse University where he directed the Center for Research on Aggression. His model of Aggression Replacement Training (ART) was enriched by diverse perspectives of many colleagues. This article highlights the ideas of three persons who strongly influenced Goldstein's work, namely, Jerome Frank,…

  5. Discourse Integration by Manipulation: Matthew Arnold.

    ERIC Educational Resources Information Center

    Crismore, Avon

    In the writing of Matthew Arnold, integration, one great impression rather than many great individual lines, is the most important goal. In his essay, "The Function of Criticism at the Present Time," the "blocs" of his thought are in sets of two, three, or even four sentences: in effect, he writes much like a poet, in couplets, triplets, and…

  6. Arnol'd diffusion in two dimensions

    NASA Technical Reports Server (NTRS)

    Karimabadi, H.; Angelopoulos, V.

    1989-01-01

    The relativistic interaction of a charged particle with obliquely propagating waves of arbitrary polarization is considered. It is shown that an arbitrarily small wave packet composed of waves with parallel phase velocity comparable to the speed of light (e.g., slow extraordinary mode) can, under certain conditions, accelerate particles to unlimited energy through a process of Arnold'd diffusion in two dimensions.

  7. 75 FR 82091 - NextEra Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Issuance of Renewed...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-29

    ... proposed issuance of the renewed license was published in the Federal Register on February 17, 2009 (73 FR... environmental impact statement (NUREG-1437, Supplement 42), for the Duane Arnold Energy Center, published in... COMMISSION NextEra Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Issuance of...

  8. A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome.

    PubMed

    Demir, Nihat; Peker, Erdal; Gül?en, ?smail; A?engin, Kemal; Kaba, Sultan; Tuncer, O?uz

    2016-03-01

    Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho-Levin syndrome and that each of these abnormalities is a component of Jarcho-Levin syndrome. PMID:26239489

  9. Arnold tongues in human cardiorespiratory systems.

    PubMed

    McGuinness, Mark; Hong, Young; Galletly, Duncan; Larsen, Peter

    2004-03-01

    Arnold tongues are phase-locking regions in parameter space, originally studied in circle-map models of cardiac arrhythmias. They show where a periodic system responds by synchronizing to an external stimulus. Clinical studies of resting or anesthetized patients exhibit synchronization between heart-beats and respiration. Here we show that these results are successfully modeled by a circle-map, neatly combining the phenomena of respiratory sinus arrhythmia (RSA, where inspiration modulates heart-rate) and cardioventilatory coupling (CVC, where the heart is a pacemaker for respiration). Examination of the Arnold tongues reveals that while RSA can cause synchronization, the strongest mechanism for synchronization is CVC, so that the heart is acting as a pacemaker for respiration. PMID:15003038

  10. Budd-Chiari Syndrome Caused by TIPS Malposition: A Case Report

    PubMed Central

    Katkar, A. S.; Kuo, Anderson H.; Calle, S.; Gangadhar, K.; Chintapalli, K.

    2014-01-01

    Budd-Chiari syndrome refers to hepatic pathology secondary to diminished venous outflow, most commonly associated with venothrombotic disease. Clinically, patients with Budd-Chiari present with hepatomegaly, ascites, abdominal distension, and pain. On imaging, Budd-Chiari syndrome is hallmarked by occluded IVC and or hepatic veins, caudate lobe enlargement, heterogeneous liver enhancement, intrahepatic collaterals, and hypervascular nodules. Etiopathological factors for Budd-Chiari syndrome include several systemic thrombotic and nonthrombotic conditions that can cause venous outflow obstruction at hepatic veins and/or IVC. While the transjugular intrahepatic portosystemic shunt (TIPS) is used as a treatment option for Budd-Chiari syndrome, Budd-Chiari syndrome is not a well-known complication of TIPS procedure. We report a case of Budd-Chiari syndrome that occurred in a transplanted cirrhotic liver from malpositioned proximal portion of the TIPS in IVC causing occlusion of the ostia of hepatic veins which was subsequently diagnosed on contrast-enhanced CT. PMID:24822068

  11. Budd–Chiari Syndrome: an unnoticed diagnosis

    PubMed Central

    Fagundes, Gustavo C. Freitas; Lamos, Gustavo Checolli; Felipe-Silva, Aloisio; Lovisolo, Silvana Maria; Martines, João Augusto; de Campos, Fernando Peixoto Ferraz

    2015-01-01

    Budd–Chiari syndrome (BCS) encompasses a group of disorders caused by the obstruction to the hepatic venous outflow at the level of the small or large hepatic veins, the inferior vena cava, or any combination thereof. Clinical manifestation of the subacute form is characterized by supramesocolic abdominal discomfort, abdominal distension, fever, and lower limbs edema. Imaging work-up with hepatic Doppler ultrasound and abdominal computed tomography (CT) enables the diagnosis in the majority of cases. Treatment comprises long-term anticoagulation associated with measures that attempt to re-establish the flow in the thrombosed vessel (thrombolysis or angioplasty) or through the venous blood flow bypasses (transjugular intrahepatic portosystemic shunt or surgical bypass); however, the outcome is often dismal. The authors report the case of a 37-year-old woman presenting a 2-month history of dyspeptic complaints and abdominal distention. Fever was present at the beginning of symptoms. The laboratory work-up disclosed mild hepatic dysfunction, and the ultrasound showed evidence of chronic liver disease. Despite a thorough etiologic investigation, diagnosis was missed and, therefore, management could not be directed towards the physiopathogenetic process. The outcome was characterized by portal hypertension and esophageal varices bleeding. The patient died and the autopsy findings were characteristic of BCS, although an abdominal CT, close to death, had showed signs consistent with this diagnosis. The authors highlight the importance of knowledge of this entity, the diagnostic methods, and the multidisciplinary approach. BCS should be considered whenever investigating etiology for chronic or acute hepatopathy. PMID:26484330

  12. Syrinx location and size according to etiology: identification of Chiari-associated syrinx.

    PubMed

    Strahle, Jennifer; Muraszko, Karin M; Garton, Hugh J L; Smith, Brandon W; Starr, Jordan; Kapurch, Joseph R; Maher, Cormac O

    2015-07-01

    OBJECT Syrinx size and location within the spinal cord may differ based on etiology or associated conditions of the brain and spine. These differences have not been clearly defined. METHODS All patients with a syrinx were identified from 14,118 patients undergoing brain or cervical spine imaging at a single institution over an 11-year interval. Syrinx width, length, and location in the spinal cord were recorded. Patients were grouped according to associated brain and spine conditions including Chiari malformation Type I (CM-I), secondary CM (2°CM), Chiari malformation Type 0 (CM-0), tethered cord, other closed dysraphism, and spinal tumors. Syringes not associated with any known brain or spinal cord condition were considered idiopathic. Syrinx characteristics were compared between groups. RESULTS A total of 271 patients with a syrinx were identified. The most common associated condition was CM-I (occurring in 117 patients [43.2%]), followed by spinal dysraphism (20 [7.4%]), tumor (15 [5.5%]), and tethered cord (13 [4.8%]). Eighty-three patients (30.6%) did not have any associated condition of the brain or spinal cord and their syringes were considered idiopathic. Syringes in patients with CM-I were wide (7.8 ± 3.9 mm) compared with idiopathic syringes (3.9 ± 1.0, p < 0.0001) and those associated with tethered cord (4.2 ± 0.9, p < 0.01). When considering CM-I-associated and idiopathic syringes, the authors found that CM-I-associated syringes were more likely to have their cranial extent in the cervical spine (88%), compared with idiopathic syringes (43%; p < 0.0001). The combination of syrinx width greater than 5 mm and cranial extent in the cervical spine had 99% specificity (95% CI 0.92-0.99) for CM-I-associated syrinx. CONCLUSIONS Syrinx morphology differs according to syrinx etiology. The combination of width greater than 5 mm and cranial extent in the cervical spine is highly specific for CM-I-associated syringes. This may have relevance when determining the clinical significance of syringes in patients with low cerebellar tonsil position. PMID:25837888

  13. Author! Author! Creator of Frog and Toad: Arnold Lobel

    ERIC Educational Resources Information Center

    Brodie, Carolyn S.

    2005-01-01

    This article presents a brief biography of author Arnold Lobel, perhaps best known for giving the world Frog and Toad. Arnold Lobel was born in Los Angeles, California, on May 22, 1933, and was raised by his grandparents in New York. He loved checking out books from the library when he was a little boy and sharing with his classmates the stories…

  14. Arnold Beckman's Influence on Science Extends from Inventions to Philanthropy.

    ERIC Educational Resources Information Center

    Wheeler, David L.

    1999-01-01

    Arnold Beckman is a chemist, businessman, and inventor who was the first to apply electronics to chemical measurement. For 17 years, the Arnold and Mabel Beckman Foundation has given over $300 million to science, focusing on biology and chemistry. The National Academy of Sciences will honor Beckman with its most prestigious award for his…

  15. Author! Author! Creator of Frog and Toad: Arnold Lobel

    ERIC Educational Resources Information Center

    Brodie, Carolyn S.

    2005-01-01

    This article presents a brief biography of author Arnold Lobel, perhaps best known for giving the world Frog and Toad. Arnold Lobel was born in Los Angeles, California, on May 22, 1933, and was raised by his grandparents in New York. He loved checking out books from the library when he was a little boy and sharing with his classmates the stories…

  16. Arnold Beckman's Influence on Science Extends from Inventions to Philanthropy.

    ERIC Educational Resources Information Center

    Wheeler, David L.

    1999-01-01

    Arnold Beckman is a chemist, businessman, and inventor who was the first to apply electronics to chemical measurement. For 17 years, the Arnold and Mabel Beckman Foundation has given over $300 million to science, focusing on biology and chemistry. The National Academy of Sciences will honor Beckman with its most prestigious award for his…

  17. Budd-Chiari syndrome treated by Senning operation.

    PubMed Central

    Mahony, M J; Littlewood, J M; Losowsky, M S; Robinson, P J; Giles, G R

    1988-01-01

    Budd-Chiari syndrome was diagnosed in a 13 year old boy who presented with ascites. Angiographic studies showed occlusion at the ostia of the hepatic veins. This was treated surgically by the Senning operation of transcaval dorsocranial resection of the liver and hepatocaval anastomosis. The patient's ascites cleared and he remains well 10 months after surgery. Images Fig 1 Fig 2 PMID:3389903

  18. Arnold B. Arons (1916-2001)

    NASA Astrophysics Data System (ADS)

    Warren, Bruce A.

    Arnold B. Arons died of a heart attack at his home in Seattle on February 28, 2001, aged 84. He was a long-time member of the American Geophysical Union (1950; Ocean Sciences) and of the American Association of Physics Teachers (AAPT), of which he was president in 1961. He was a Fellow of the American Physical Society, and a Fellow of the American Association for the Advancement of Science.Arnold Arons was a teacher of physics. He taught it to the freshmen at Amherst College from 1952 to 1968, and then, at the University of Washington, he taught prospective teachers of physics how to teach it. He stressed meaning in physical concepts: how it is derived from shared experience, is founded on operational definitions, and is deepened and broadened with growing sophistication, individual and historical. He derided glib chatter about complex ideas (“Gibberish!”), or mere manipulation of symbols and formulas, and insisted—fiercely—that students know what they were talking about. His presence in the lecture hall at Amherst was sometimes terrifying; that technique might not be readily accepted in present, more tender times, but it was effective in shaking high school hotshots loose from some of their delusions. Despite perceived indignities, they usually gave him a standing ovation at the end of the spring semester.

  19. Arnold Gesell and the maturation controversy.

    PubMed

    Dalton, Thomas C

    2005-01-01

    This article examines the work of Arnold Lucius Gesell and argues that he not only paved the way for contemporary research in motor development, but that he and colleagues anticipated fundamental issues about growth that must be addressed by psychologists and neuroscientists who are committed to the advancement of developmental science. Arnold Lucius Gesell was a pioneer in developmental psychology when the field was in its infancy. He worked diligently for the rights of physically and mentally handicapped children to receive special education that would enable them to find gainful employment. Gesell's writings in books and popular magazines increased public awareness of and support for preschool education and better foster care for orphans. Despite these achievements, many of his successors have questioned his views about infant development. Developmental psychologists have criticized Gesell for proposing a stage theory of infant growth that has fallen into disfavor among contemporary researchers. His conception of development as a maturational process has been challenged for allegedly reducing complex behavioral, perceptual, and learning processes to genetic factors. The author rejects this overly simplistic interpretation and contends that Gesell's work continues to stand the test of time. PMID:17549936

  20. 75 FR 64748 - Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Availability of the Final...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-20

    ... of license renewal for energy- planning decision-makers. The final Supplement 42 to the GEIS is... COMMISSION Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Availability of the Final Supplement 42 to the Generic Environmental Impact Statement for License Renewal of Nuclear Plants Notice...

  1. Budd-Chiari Syndrome and antithrombin III deficiency.

    PubMed

    McClure, S; Dincsoy, H P; Glueck, H

    1982-08-01

    Presented herein is a case report of a 20-year-old woman with a past history of oral contraceptive use who developed Budd-Chiari syndrome. Onset of her illness was abrupt and stormy, simulating fulminant viral hepatitis or toxic hepatic injury. She died within six months of her initial presentation. Although the patient discontinued the use of oral contraceptives two years prior to the initial presentation of the disease, the morphologic features of the venous thrombosis and hepatic damage were indicative of a chronic, ongoing process of longer than six months' duration, thus raising the possibility of a cause-effect relationship between the "pills" and thrombotic process. Of interest was the finding of persistently depressed antithrombin III levels. While a relationship between oral contraceptive usage, antithrombin III deficiency and the Budd-Chiari syndrome is strongly suggested in this case, prospective studies are needed to substantiate this view. PMID:7102823

  2. 2. Historic American Buildings Survey, Arnold Moses, Photographer November 9, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2. Historic American Buildings Survey, Arnold Moses, Photographer November 9, 1936, # 112 - FRONT AND SIDE OF END HOUSE IN ROW WITH # 116. - 116 West Eleventh Street (Building), New York, New York County, NY

  3. Politics and Developmental Education: An Interview with Arnold L. Mitchem.

    ERIC Educational Resources Information Center

    Tierney, Steven; Mitchem, Arnold L.

    1991-01-01

    Arnold Mitchem, executive director, National Council of Educational Opportunity Associations (NCEOA), answers questions concerning key educational issues, the federal government's educational agenda, the Higher Education Act's reauthorization, federal policy influences on developmental and minority education, faculty retraining, financial…

  4. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures. PMID:11469062

  5. 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

  6. Congenital Vascular Malformation

    MedlinePLUS

    ... reason these artery- to-vein connections, or a cluster of them persist. Such connections are called arteriovenous fistulas (AVFs), or if there is a cluster of them they are called arteriovenous malformations (AVMs). ...

  7. Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome

    MedlinePLUS

    ... and families Gene Reviews Clinical summary Genetic Testing Registry Genetic testing ClinicalTrials.gov Research studies PubMed Recent ... providers. Gene Review: RASA1-Related Disorders Genetic Testing Registry: Capillary malformation-arteriovenous malformation You might also find ...

  8. Research status of Budd-Chiari syndrome in China

    PubMed Central

    Dang, Xiaowei; Li, Luhao; Xu, Peiqin

    2014-01-01

    Budd-Chiari syndrome (B-CS) is a disease with a low incidence and has obvious geographical difference in subtype and clinical characteristics. The pathogenesis of B-CS in China is significantly different from that in western countries and is a complex process involving multiple factors. However, the specific cause of this disease is not yet clear. In-depth understanding of B-CS pathogenesis will be of great importance in preventing and treating the disease and improving the quality of life of the patients. PMID:25663961

  9. Mapping the Arnold web with a graphic processing unit

    NASA Astrophysics Data System (ADS)

    Seibert, A.; Denisov, S.; Ponomarev, A. V.; Hänggi, P.

    2011-12-01

    The Arnold diffusion constitutes a dynamical phenomenon which may occur in the phase space of a non-integrable Hamiltonian system whenever the number of the system degrees of freedom is M ? 3. The diffusion is mediated by a web-like structure of resonance channels, which penetrates the phase space and allows the system to explore the whole energy shell. The Arnold diffusion is a slow process; consequently, the mapping of the web presents a very time-consuming task. We demonstrate that the exploration of the Arnold web by use of a graphic processing unit-supercomputer can result in distinct speedups of two orders of magnitude as compared with standard CPU-based simulations.

  10. [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. PMID:25596643

  11. Analysis and improvement of the quantum Arnold image scrambling

    NASA Astrophysics Data System (ADS)

    Jiang, Nan; Wang, Luo

    2014-07-01

    We investigate the quantum Arnold image scrambling proposed by Jiang et al. (Quantum Inf Process 13(5):1223-1236, 2014). It is aimed to realize Arnold and Fibonacci image scrambling in quantum computer. However, the algorithm does not perceive the particularities of "mod ," multiply by 2, and subtraction in binary arithmetic. In this paper, a possible simplified version is presented based on 3 theorems and a corollary which represent the particularities of binary arithmetic. The theoretical analysis indicates that the network complexity is dropped from 140 n 168 n to 28 n 56 n and the unitarity of circuits is not destroyed.

  12. 78 FR 7818 - Duane Arnold Energy Center; Application for Amendment to Facility Operating License

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-04

    ... COMMISSION Duane Arnold Energy Center; Application for Amendment to Facility Operating License AGENCY...) has granted the request of NextEra Energy Duane Arnold, LLC (the licensee) to withdraw its March 22... Operating License No. DPR-49 for the Duane Arnold Energy Center, located in Iowa, Linn County. The...

  13. Chiari network: a protective filter against pulmonary embolism in a case of polycythaemia

    PubMed Central

    Obaji, Samya Gwen; Cooper, Robert; Somauroo, John

    2012-01-01

    The Chiari network, a net-like structure within the right atrium, has been described as an embryonic remnant of no clinical significance. Its role in facilitating paradoxical arterial embolic events and as a potential site for thrombus formation however, has been reported in the literature. This case illustrates the protective filter-effect of the Chiari network in a 79-year-old Caucasian man with an unknown diagnosis of polycythaemia rubra vera who presented with clinical signs and symptoms of deep vein thrombosis. Transoesophageal echocardiogram confirmed entrapment of a thrombus within the Chiari network, which was not visualised following treatment on repeat scanning 1 month later. Here the authors describe how the Chiari network may have prevented the occurrence of a fatal massive pulmonary embolism in a patient with a high pro-thrombotic tendency, and review the current literature regarding the action of this anatomic variant as risk factor or protector. PMID:22605001

  14. Arnold Salzberg, HB, MD: The Pied Piper of MCV.

    PubMed

    Parrish, Dan W; Haynes, Jeffrey H; Bagwell, Charles E

    2015-01-01

    Salzbergian\\solz-b?rg?-?n\\ adjective of, relating to, or following the teachings of Arnold Salzberg. Noun one who embodies all that Arnold Salzberg taught about humanity. Noun one who has obtained his or her HB degree. Webster's dictionary would probably define "Salzbergian" as one who trained under Arnold Salzberg and exhibits the same great character traits, mentoring ability, and surgical skills. These might be the words that are used, but many times words cannot do justice to describing something so special. Arnold Salzberg was many things to many different people, "father figure," "wonderful advisor and resource," "ultimate mentor," "humanitarian," but when he was asked how he wanted to be remembered, he simply smiled and replied, "Icon…that would be nice." Never at a loss for words or humor and forever with an open door to his office, home, and heart, Dr. Salzberg embodied what so many medical students, residents, and attendings have been striving for, the ideal combination of physician and human being. PMID:25598125

  15. Arnold L. Gesell: The Paradox of Nature and Nurture.

    ERIC Educational Resources Information Center

    Thelen, Esther; Adolph, Karen E.

    1992-01-01

    Examines the impact of Arnold L. Gesell on developmental psychology. Gesell is best remembered for his developmental norms, acquired from observations of infants and children. Gesell's ideas about maturation have lost favor, but his belief in infants' native abilities is still a dominant theme in theories. (BC)

  16. Stability of planar multifluid plasma equilibria by Arnold's method

    SciTech Connect

    Holm, D.D.

    1983-01-01

    A method developed by Arnold to prove nonlinear stability of certain steady states for ideal incompressible flow in two dimensions is extended to the case of barotropic, compressible, multifluid plasmas. This extension is accomplished by constructing conserved functionals derived from degeneracy of Poisson brackets. The results are applied to planar shear flows of the plasma.

  17. 15. Historic American Buildings Survey, Arnold Moses, Photographer December 1, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    15. Historic American Buildings Survey, Arnold Moses, Photographer December 1, 1936, VIEW LOOKING SOUTH FROM THIRD FLOOR OF 29 1/2 CHERRY STREET SHOWING ROOF LINE OF BRICK FILLED TIMBER HOUSE RECENTLY DEMOLISHED. - John Beekman House, 29-29 1/2 Cherry Street, New York, New York County, NY

  18. Pilot-scale in situ vitrification at Arnold Engineering Development Center, Arnold AFB, TN

    SciTech Connect

    Lominac, J.K.; Edwards, R.C. ); Timmerman, C.L. )

    1989-11-01

    The Department of Defense has the Installation Restoration Program (IRP) to identify and permanently remediate hazardous material disposal sites at its military bases across the United States. Pursuant to this guidance, Arnold Engineering Development Center (AEDC) selected In Situ Vitrification (ISV) to remediate an old fire training area, Fire Protection Training Area (FPTA) No. 2. The ISV technology was developed by Pacific Northwest Laboratory, Richland, WA, for the US Department of Energy (DOE) and will allow for the destruction and encapsulation of the petroleum-oil-lubricants (POL) and heavy metal-constituents found at the FPTA and adjacent overflow pond. ISV operates by passing a measured current of electricity into the ground through a set of electrodes. The resulting heat causes the soil to melt and form a solid vitreous (glass) mass similar to naturally occurring obsidian or basalt. In the process, organic constituents will be pyrolyzed (changed by heat) by the ensuing heat whereas the non-organic material will be incorporated into the glass matrix. 2 refs., 9 figs.

  19. An update on management of Budd-Chiari syndrome.

    PubMed

    Mancuso, Andrea

    2014-01-01

    The topic of this paper is to report an update on management of Budd-Chiari syndrome (BCS). Actually, the flow-chart of BCS management comes from experts opinion and is not evidence-based due to the rarity of BCS. Management of BCS follows a step-wise strategy. Anticoagulation and medical therapy should be the first line treatment. Revascularization or TIPS in case of no response to medical therapy. OLT as a rescue therapy. Surgery has limited but important space, especially in cases with high inferior vena cava obstruction not suitable for endovascular treatment. However, no clear indication can actually be given about the timing of different treatments. Moreover, there is some concern about treatment of some subgroup of patients, especially regarding the risk of recurrence after liver transplantation. This paper propose a new algorithm of BCS management suggesting an earlier therapeutic approach when clinical signs are evident. PMID:24756006

  20. Dent's disease complicated by an acute Budd-Chiari syndrome.

    PubMed

    Platt, Caroline; Jadresic, Lyda; Dudley, Jan; Hartley, Jane L

    2014-01-01

    We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated with recombinant growth hormone. He later presented acutely with hepatorenal failure and thrombotic occlusion of the middle and right hepatic veins consistent with a diagnosis of Budd-Chiari syndrome, which required a prolonged period of intensive care. The diagnosis of Dent's disease should be considered early in boys with nephrotic-range proteinuria in the absence of clinical oedema and hypoalbuminaemia to allow for the timely introduction of strategies, such as a high-citrate diet, to preserve renal function. The measurement of urinary ?-2 microglobulin has been shown by this case to be a more reliable and specific marker of tubular dysfunction than the urinary retinol-binding protein. PMID:24398869

  1. Dent's disease complicated by an acute Budd-Chiari syndrome

    PubMed Central

    Platt, Caroline; Jadresic, Lyda; Dudley, Jan; Hartley, Jane L

    2014-01-01

    We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated with recombinant growth hormone. He later presented acutely with hepatorenal failure and thrombotic occlusion of the middle and right hepatic veins consistent with a diagnosis of Budd-Chiari syndrome, which required a prolonged period of intensive care. The diagnosis of Dent's disease should be considered early in boys with nephrotic-range proteinuria in the absence of clinical oedema and hypoalbuminaemia to allow for the timely introduction of strategies, such as a high-citrate diet, to preserve renal function. The measurement of urinary ?-2 microglobulin has been shown by this case to be a more reliable and specific marker of tubular dysfunction than the urinary retinol-binding protein. PMID:24398869

  2. [Skull lacunae in myelomeningocele].

    PubMed

    Giroud, M; Verret, S; Fortin, G

    1983-03-24

    Lacunar skull was found in 60% of 80 patients with myelomeningocele. Most patients with lacunae were neonates. Lacunar skull is significantly correlated with hydrocephalus, stenosis of aqueduct of Sylvius, and Arnold-Chiari malformation. All infants with myelomeningocele should have roentgenograms of the skull at birth. Lacunar skull is associated with a poor mental prognosis. PMID:6306773

  3. Color image encryption based on gyrator transform and Arnold transform

    NASA Astrophysics Data System (ADS)

    Sui, Liansheng; Gao, Bo

    2013-06-01

    A color image encryption scheme using gyrator transform and Arnold transform is proposed, which has two security levels. In the first level, the color image is separated into three components: red, green and blue, which are normalized and scrambled using the Arnold transform. The green component is combined with the first random phase mask and transformed to an interim using the gyrator transform. The first random phase mask is generated with the sum of the blue component and a logistic map. Similarly, the red component is combined with the second random phase mask and transformed to three-channel-related data. The second random phase mask is generated with the sum of the phase of the interim and an asymmetrical tent map. In the second level, the three-channel-related data are scrambled again and combined with the third random phase mask generated with the sum of the previous chaotic maps, and then encrypted into a gray scale ciphertext. The encryption result has stationary white noise distribution and camouflage property to some extent. In the process of encryption and decryption, the rotation angle of gyrator transform, the iterative numbers of Arnold transform, the parameters of the chaotic map and generated accompanied phase function serve as encryption keys, and hence enhance the security of the system. Simulation results and security analysis are presented to confirm the security, validity and feasibility of the proposed scheme.

  4. Difusión de Arnold en un modelo simple

    NASA Astrophysics Data System (ADS)

    Cincotta, P. M.; Nuñez, J. A.; Miloni, O.

    Investigadores como Merritt, Valluri, Pfenniger o Contopoulos (por citar los más relevantes) consideran seriamente la hipótesis que la difusión de Arnold juega un rol importante en la evolución dinámica de los sistemas estelares y planetarios. Sin embargo no existe ninguna evidencia. El mayor problema para investigar fenómenos como éste es que uno debe estudiar numéricamente sistemas multidimensionales (más de dos grados de libertad) y visualizar de alguna manera el espacio de fases (más de cuatro dimensiones). Más complicado aún es el caso de difusión de Arnold, donde deben considerarse tiempos de movimiento extremadamente largos y tratar con parámetros exponencialmente pequeños. El propósito de este trabajo es estudiar, en un modelo simple 3D, la existencia o no de difusión de Arnold mediante experimentos numéricos y estimaciones analíticas. Siguiendo los trabajos de Cincotta (2000) y Cincotta, Nuñez y Simo (2000), aquí se pretende ``visualizar" la difusión y, a la vez, determinar la escala de tiempo en la que ésta se podría manifestar. Este trabajo es el escalón inicial para luego abordar este problema en modelos.

  5. Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

    PubMed Central

    Mondéjar, Rufino; Solano, Francisca; Rubio, Rocío; Delgado, Mercedes; Pérez-Sempere, Ángel; González-Meneses, Antonio; Vendrell, Teresa; Izquierdo, Guillermo; Martinez-Mir, Amalia; Lucas, Miguel

    2014-01-01

    Objective To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. Methods We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. Results A total of 26 pathogenic mutations, 22 of which predict truncated proteins, were identified in 29 familial forms and in three sporadic cases. The repertoire includes six novel non-sense and frameshift mutations in CCM1 and CCM3. We also found four missense mutations, one of them located at the third NPXY motif of CCM1 and another one that leads to cryptic splicing of CCM1 exon 6. We found four genomic deletions with the loss of the whole CCM2 gene in one patient and a partial loss of CCM1and CCM2 genes in three other patients. Four families had mutations in CCM3. The results include a high frequency of intronic variants, although most of them localize out of consensus splicing sequences. The main symptoms associated to clinical debut consisted of cerebral haemorrhage, migraines and epileptic seizures. The rare co-occurrence of CCM with Noonan and Chiari syndromes and delayed menarche is reported. Conclusions Analysis of CCM genes by sequencing and MLPA has detected mutations in almost 35% of a Spanish cohort (36% of familial cases and 10% of sporadic patients). The results include 13 new mutations of CCM genes and the main clinical symptoms that deserves consideration in molecular diagnosis and genetic counselling of cerebral cavernous malformations. PMID:24466005

  6. Capillary malformation-arteriovenous malformation syndrome with spinal involvement.

    PubMed

    Yi?, Uluç; Kurul, Semra H; Güleryüz, Handan; Men, Süleyman

    2014-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is a recently identified autosomal dominant disorder. Arteriovenous lesions have been reported in the brain, limbs, and face. We report a 7-year-old patient with CM-AVM with spinal AVM, which is a rarely reported association. PMID:25040073

  7. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  8. Budd-Chiari Syndrome: An Unusual Presentation of Multisystemic Sarcoidosis

    PubMed Central

    Bacha, Dhouha; Romdhane, Hayfa; Cheikh, Myriam; Nejma, Houda Ben; BelHadj, Najet

    2015-01-01

    Sarcoidosis is a multisystem granulomatous disease of unknown origin. All organs may be affected. Liver involvement is common but it is rarely symptomatic. Only a few cases of Budd-Chiari syndrome (BCS) secondary to a hepatic sarcoidosis have been described so far. We describe a case of multisystemic sarcoidosis presenting with BCS. A 42-year old female was referred to our department for chronic and anicteric cholestasis. Laboratory and imaging investigations disclosed features of chronic BCS associated with multisystemic sarcoidosis. The positive diagnosis was based on microscopic features, which showed hepatic, gastric and cutaneous non-caseating granulomas. Screening for an underlying thrombophilic disorder was negative. The diagnosis of BCS complicating hepatic sarcoidosis was the most likely. She was put on corticosteroids and anticoagulation therapy. To our knowledge, few cases of sarcoidosis-related BCS have been reported in the literature. In addition to being an uncommon presentation of sarcoidosis, this case illustrates the importance of recognizing an unusual cause of BCS and its therapeutic difficulties.

  9. Arteriovenous malformations and headache.

    PubMed

    Ellis, Jason A; Mejia Munne, Juan C; Lavine, Sean D; Meyers, Philip M; Connolly, E Sander; Solomon, Robert A

    2016-01-01

    Brain arteriovenous malformations (AVM) are complex vascular lesions commonly associated with chronic headache. An occipital location appears to increase the risk of concurrent migraine-like headaches in AVM patients. We have experienced great success in treating these headaches through a multidisciplinary approach to eradicate cerebral AVM. However, the specific clinical characteristics of AVM-associated headaches and the most effective treatment strategies for these patients remain unclear. Here, we provide a comprehensive review of the literature on AVM-associated headaches. We detail the history, classification, epidemiology, presentation, pathophysiology, treatment options, and outcomes for this poorly described condition. Additionally, we illustrate our approach to the management of patients with occipital AVM and associated intractable headaches. PMID:26461909

  10. Budd-Chiari syndrome secondary to carcinoma: report of two cases.

    PubMed

    Chatel, D; Nottin, R; Zeitoun, G; Dazza, F; Hay, J M; Plessis-Robinson, L

    1995-11-01

    In two patients who had Budd-Chiari syndrome secondary to carcinoma, the diagnosis was made intraoperatively at the time of emergency right atrial clearance required for severe cardiovascular distress. Curative resection was not possible and both patients died. As previously noted in the literature, it is extremely difficult to relate carcinoma to the origin of Budd-Chiari syndrome. Retro- and suprahepatic involvement of the vena cava is associated with a very poor prognosis. Complete resection of these tumors is the only potentially curative treatment. We suggest ways to obtain a simple and early histologic diagnosis before initiating appropriate and radical surgical treatment. PMID:8746835

  11. Space testing at the Arnold Engineering Development Center

    NASA Astrophysics Data System (ADS)

    Smith, Robert W.

    1995-05-01

    The Arnold Engineering Development Center (AEDC) supports ground environmental testing with a variety of versatile ground test facilities. The AEDC mission is to test and evaluate aircraft, missile and space systems and their subsystems. This paper will focus on the facilities available and under construction at AEDC to meet the space ground test needs of government and commercial customers. The space chambers and their associated test methodologies are divided into the following areas: sensor calibration and mission simulation, nuclear weapons effects, thermal vacuum/solar simulation, contamination, and component checkout testing.

  12. Classification of Arnold-Beltrami flows and their hidden symmetries

    NASA Astrophysics Data System (ADS)

    Fré, P.; Sorin, A. S.

    2015-07-01

    In the context of mathematical hydrodynamics, we consider the group theory structure which underlies the so named ABC flows introduced by Beltrami, Arnold and Childress. Main reference points are Arnold's theorem stating that, for flows taking place on compact three manifolds ?3, the only velocity fields able to produce chaotic streamlines are those satisfying Beltrami equation and the modern topological conception of contact structures, each of which admits a representative contact one-form also satisfying Beltrami equation. We advocate that Beltrami equation is nothing else but the eigenstate equation for the first order Laplace-Beltrami operator ? g d, which can be solved by using time-honored harmonic analysis. Taking for ?3, a torus T 3 constructed as ?3/?, where ? is a crystallographic lattice, we present a general algorithm to construct solutions of the Beltrami equation which utilizes as main ingredient the orbits under the action of the point group B A of three-vectors in the momentum lattice *?. Inspired by the crystallographic construction of space groups, we introduce the new notion of a Universal Classifying Group which contains all space groups as proper subgroups. We show that the ? g d eigenfunctions are naturally arranged into irreducible representations of and by means of a systematic use of the branching rules with respect to various possible subgroups we search and find Beltrami fields with non trivial hidden symmetries. In the case of the cubic lattice the point group is the proper octahedral group O24 and the Universal Classifying Group is a finite group G1536 of order |G1536| = 1536 which we study in full detail deriving all of its 37 irreducible representations and the associated character table. We show that the O24 orbits in the cubic lattice are arranged into 48 equivalence classes, the parameters of the corresponding Beltrami vector fields filling all the 37 irreducible representations of G1536. In this way we obtain an exhaustive classification of all generalized ABC- flows and of their hidden symmetries. We make several conceptual comments about the need of a field-theory yielding Beltrami equation as a field equation and/or an instanton equation and on the possible relation of Arnold-Beltrami flows with (supersymmetric) Chern-Simons gauge theories. We also suggest linear generalizations of Beltrami equation to higher odd-dimensions that are different from the non-linear one proposed by Arnold and possibly make contact with M-theory and the geometry of flux-compactifications.

  13. Tethered cord: natural history, surgical outcome and risk for Chiari malformation 1 (CM1): a review of 110 detethering.

    PubMed

    Valentini, Laura Grazia; Selvaggio, Giorgio; Visintini, Sergio; Erbetta, Alessandra; Scaioli, Vidmer; Solero, Carlo Lazzaro

    2011-12-01

    The surgical results of this series of occult spina bifida seem better than the natural history registered in the long pre-operative period in terms of neurological deterioration. The major contribution to this result is attributed to neurophysiological monitoring that lowers the risks of permanent damage and increases the percentage of effective detethering. The present series of TCS, due to conus and filar lipoma, documents that CM1 is a really rare association occurring in less than 6% of the patients, despite the low position of conus. The detethering procedure did not influence the tonsillar position, thus excluding the correlation between the tethering and the tonsillar descent. The genetic alteration documented in a girl reinforces the hypothesis of a rare complex polymaformative picture deserving multiple procedures according to the prevailing clinical symptoms. PMID:21922314

  14. An Awkward Echo: Matthew Arnold and John Dewey. Research in Curriculum and Instruction

    ERIC Educational Resources Information Center

    Dietz, Mark David

    2010-01-01

    Matthew Arnold, 19th century English poet, literary critic and school inspector, felt that each age had to determine that philosophy that was most adequate to its own concerns and contexts. This study looks at the influence that Matthew Arnold had on John Dewey and attempts to fashion a philosophy of education that is adequate for our own…

  15. The Literary Theories of Arnold and Wordsworth and Their Implications for the Teaching of English.

    ERIC Educational Resources Information Center

    Ferrara, Cosmo Francis

    This dissertation examines the philosophies of Matthew Arnold and William Wordsworth in the attempt to provide a historical basis for a humanistic approach to the teaching of English. Arnold focused on the intellect, considering reading to be a criticism of life, while Wordsworth was concerned with feeling--emotions stimulated by experience and…

  16. An Awkward Echo: Matthew Arnold and John Dewey. Research in Curriculum and Instruction

    ERIC Educational Resources Information Center

    Dietz, Mark David

    2010-01-01

    Matthew Arnold, 19th century English poet, literary critic and school inspector, felt that each age had to determine that philosophy that was most adequate to its own concerns and contexts. This study looks at the influence that Matthew Arnold had on John Dewey and attempts to fashion a philosophy of education that is adequate for our own…

  17. Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

    SciTech Connect

    Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman; Yerdel, Mehmet Ali

    2002-08-15

    Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent.

  18. Budd-Chiari Syndrome Complicating Hydatid Cyst of the Liver Managed by Venoplasty and Stenting

    SciTech Connect

    Sarawagi, Radha Keshava, Shyamkumar N. Surendrababu, Narayanam R. S.; Zachariah, Uday G. Eapen, Eapen C.

    2011-02-15

    Budd-Chiari syndrome (BCS) and portal hypertension is an uncommon complication of hydatid cyst of the liver. Previous reports describe cyst excision or portosystemic shunt surgery for such patients. Here we present a case of hydatid cyst of the liver with BCS that was treated successfully with hepatic venoplasty and transjugular stent placement.

  19. Pancreatic Arteriovenous Malformation

    PubMed Central

    Yamabuki, Takumi; Ohara, Masanori; Kimura, Noriko; Okamura, Kunishige; Kuroda, Aki; Takahashi, Ryo; Komuro, Kazuteru; Iwashiro, Nozomu

    2014-01-01

    An unusual case of pancreatic arteriovenous malformation (P-AVM) combined with esophageal cancer is reported. A 59-year-old man was admitted with upper abdominal pain. Contrast-enhanced computed tomography showed numerous strongly enhanced abnormal vessels and a hypovascular lesion in the area of the pancreatic tail. Angiographic study of the celiac artery confirmed racemose vascular networks in the tail of the pancreas. Endoscopic retrograde pancreatography revealed narrowing and displacement of the main pancreatic duct in the tail of the pancreas. Screening esophagoscopy showed a 0-IIa+IIc type tumor in the lower thoracic esophagus. Histological examination of esophagoscopic biopsies showed squamous cell carcinoma. Based on these findings, P-AVM or pancreatic cancer and esophageal cancer were diagnosed. Video-assisted thoracoscopic esophagectomy and distal pancreatectomy were performed. Histological examination of the resected pancreas revealed abundant abnormal vessels with intravascular thrombi. In addition, rupture of a dilated pancreatic duct with pancreatic stones and both severe atrophy and fibrosis of the pancreatic parenchyma were observed. The final diagnoses were P-AVM consequent to severe chronic pancreatitis and esophageal carcinoma. The patient's postoperative course was relatively good. PMID:24574946

  20. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  1. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  2. "Tangible as tissue": Arnold Gesell, infant behavior, and film analysis.

    PubMed

    Curtis, Scott

    2011-09-01

    From 1924 to 1948, developmental psychologist Arnold Gesell regularly used photographic and motion picture technologies to collect data on infant behavior. The film camera, he said, records behavior "in such coherent, authentic and measurable detail that ... the reaction patterns of infant and child become almost as tangible as tissue." This essay places his faith in the fidelity and tangibility of film, as well as his use of film as evidence, in the context of developmental psychology's professed need for legitimately scientific observational techniques. It also examines his use of these same films as educational material to promote his brand of scientific child rearing. But his analytic techniques - his methods of extracting data from the film frames - are the key to understanding the complex relationship between his theories of development and his chosen research technology. PMID:21995223

  3. Arnold Gesell's progressive vision: child hygiene, socialism and eugenics.

    PubMed

    Harris, Ben

    2011-08-01

    In October 1913, The American Magazine published an article by Arnold Gesell that portrayed Alma, Wisconsin (his hometown) as overflowing with the mentally and morally unfit. In "The Village of a Thousand Souls", Gesell called for the observation and segregation of the unfit as a eugenic measure. This article explores the reasons behind this infamous article by someone who became a famous developmental psychologist and pediatrician. Gesell's papers at the Library of Congress reveal his socialist views of poverty, injustice, and human development. The archives of his father's photography studio at the Wisconsin Historical Society reveal his manipulation of the photographic record to fit his negative view of Alma. Typical of the era, Gesell's Progressive vision combined social control and negative eugenics with egalitarianism and the benevolent engineering of the environment. PMID:21936236

  4. Fibrinolysis status in the Budd-Chiari syndrome in China.

    PubMed

    Ke, Zhang; Hao, Xu; Ning, Wei; Zu, Mao-heng; Fun, Yu-fei

    2015-10-01

    Pathogenesis and clinical characteristics of the Budd-Chiari syndrome (BCS) in Asia are somewhat different from the ones observed in Western countries. Obstruction of the inferior vena cava (IVC) or of the hepatic veins is caused to a greater extent by membranous webs than by thrombosis. Impaired fibrinolysis has been found in European patients with BCS, but its status in Chinese patients with this condition is still unknown. To explore the characteristics of fibrinolysis in BCS patients in this country, we measured the euglobulin lysis time (ELT) for overall fibrinolysis and the plasma levels of five fibrinolytic components in 65 Chinese patients with BCS and 43 healthy controls. In patients, ELTs were slightly shorter than in controls (mean, 293 vs. 357 min, P < 0.02), tissue type plasminogen activator levels were higher than in controls (mean, 239 vs. 185 pg/ml, P < 0.01), and plasminogen activator inhibitor 1 levels were lower than in controls (mean, 1.43 vs. 1.73 ng/ml, P < 0.001). To explore BCS in more detail, we subgrouped the cases according to age, type of venous occlusion, Child-Pugh score, and thrombosis. As a result of this analysis, we found that young patients (age <30 years) had a longer ELT (mean, 440 min) than the older patient groups (30 ? age ? 44, 45 ? age ? 54, age>54 years; mean ELT = 242, 198, and 289 min, respectively, all P < 0.05). The independent hepatic vein occlusion subgroup showed a longer ELT (mean, 367 min) than the combined hepatic vein and IVC or the independent IVC occlusion subgroup (mean ELT = 233 and 260 min, both P < 0.05). ELT did not show significant differences between Child-Pugh class A and B subgroups (mean, 267 vs. 333 min, P > 0.05). ELT in the subgroup without thrombosis was shorter than in controls (mean, 288 vs. 358 min, P < 0.05), and in the subgroup with thrombosis, it was also slightly shorter than in controls, without reaching statistical significance (mean, 306 vs. 358 min, P > 0.05). By and large, overall fibrinolytic potential was slightly increased in Chinese patients with BCS in this study, but fibrinolysis differed according to its baseline characteristics. Compared with the one seen in BCS patients from Western countries, BCS in China exhibits certain special changes in fibrinolysis and we were able to explain some of these changes. PMID:24911452

  5. Aetiological factors of Budd-Chiari syndrome in Algeria

    PubMed Central

    Afredj, Nawel; Guessab, Nawal; Nani, Abdelbasset; Faraoun, Sid Ahmed; Ouled Cheikh, Ibtissem; Kerbouche, Rafik; Hannoun, Djouhar; Amir, Zine Charef; Ait Kaci, Hayet; Bentabak, Kamel; Plessier, Aurélie; Valla, Dominique-Charles; Cazals-Hatem, Valerie; Denninger, Marie-Hélène; Boucekkine, Tadjeddine; Debzi, Nabil

    2015-01-01

    AIM: To study the clinical presentation of Budd-Chiari syndrome (BCS) and identify the aetiologies of this disease in Algeria. METHODS: Patients with BCS, hospitalised in our unit from January 2004 until June 2010 were included and the aetiological factors were assessed. Patients presenting a BCS in the setting of advanced-stage cirrhosis or a liver transplantation were excluded from the study. The diagnosis was established when an obstruction of hepatic venous outflow (thrombosis, stenosis or compression) was demonstrated. We diagnosed myeloproliferative disease (MPD) by bone marrow biopsy and V617F JAK2 mutation. Anti-phospholipid syndrome (APLS) was detected by the presence of anticardiolipin antibodies, anti-?2 glycoprotein antibodies and Lupus anticoagulant. We also detected paroxysmal nocturnal haemoglobinuria (PNH) by flow cytometry. Celiac disease and Behçet disease were systematically investigated in our patients. Hereditary anticoagulant protein deficiencies were also assessed. We tested our patients for the G20210A mutation at Beaujon Hospital. Imaging procedures were performed to determine a local cause of BCS, such as a hydatid cyst or a liver tumour. RESULTS: One hundred and fifteen patients were included. Mean follow up: 32.12 mo. Mean age: 34.41 years, M/F = 0.64. Chronic presentation was frequent: 63.5%. The revealing symptoms for the BCS were ascites (74.8%) and abdominal pain (42.6%). The most common site of thrombosis was the hepatic veins (72.2%). Involvement of the inferior vena cava alone was observed in 3 patients. According to the radiological investigations, BCS was primary in 94.7% of the cases (n = 109) and secondary in 5.2% (n = 6). An aetiology was identified in 77.4% of the patients (n = 89); it was multifactorial in 27% (n = 31). The predominant aetiology of BCS in our patients was a myeloproliferative disease, observed in 34.6% of cases. APLS was found in 21.7% and celiac disease in 11.4%. Other acquired conditions were: PNH (n = 4), systemic disease (n = 6) and inflammatory bowel disease (n = 5). Anticoagulant protein deficiency was diagnosed in 28% of the patients (n = 18), dominated by protein C deficiency (n = 13). Secondary BCS was caused by a compressing hydatic cyst (n = 5) and hepatocellular carcinoma (n = 1). CONCLUSION: The main aetiologic factor of BCS in Algeria is MPD. The frequency of celiac disease justifies its consideration when BCS is diagnosed in our region. PMID:25937867

  6. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  7. Genetics Home Reference: Cerebral cavernous malformation

    MedlinePLUS

    ... and families Gene Reviews Clinical summary Genetic Testing Registry Genetic testing ClinicalTrials.gov Research studies PubMed Recent ... Gene Review: Familial Cerebral Cavernous Malformation Genetic Testing Registry: Cerebral cavernous malformation Genetic Testing Registry: Cerebral cavernous ...

  8. Pseudotumour cerebri associated with arteriovenous malformations.

    PubMed Central

    Cockerell, O. C.; Lai, H. M.; Ross-Russell, R. W.

    1993-01-01

    The association of intracranial hypertension and arteriovenous malformations is described in two patients. Both patients had the typical clinical features of pseudotumour cerebri and were found to have intracranial arteriovenous malformations on arteriography. The mechanism of raised intracranial pressure in patients with arteriovenous malformations is discussed. Images Figure 1 PMID:8234111

  9. [SURGICAL TREATMENT OF THE FACE CAPILLARY MALFORMATION].

    PubMed

    Galich, S P; Gindich, O A; Dabizha, A Yu; Ogorodnik, Ya P

    2015-08-01

    Results of surgical treatment of 37 patients for the head and neck capillary malformations were analyzed. Optimal surgical tactics, depending on the malformation form and localization, was proposed. Restitution of the tissues defect after excision of malformation, using the flaps transposition, have permitted to achieve good esthetic results. PMID:26591862

  10. 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. PMID:17670762

  11. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  12. [Uncommon malformative association (author's transl)].

    PubMed

    Herrero, E; Ruza, F; Martínez-Almoyna, C; Figols, F J

    1975-01-01

    An uncommon malformative association is presented ((hydrocephalus, bilateral renal hypoplasia, aplasia cutis) associated with neonatal gastrointestinal perforation. The bibliography related with these problems is reviewed, discussing the possible relationship between them. The etiological hypothesis is infective, and pathogenic interpretation is pointed out in this context. PMID:1155862

  13. Budd-chiari syndrome and renal arterial neurysms due to behcet disease: a rare association

    PubMed Central

    Batur, Abdussamet; Dorum, Meltem; Yüksekkaya, Hasan Ali; Koc, Osman

    2015-01-01

    Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in Behcet's disease with predominant vascular involvement is the only vasculitis that affects both arteries and veins of any size. Involvement of the renal artery and inferior vena cava is rare among the arteries and veins, respectively. When disease affect the veins, it is in the form of thrombosis. Arterial complications include aneurysms, stenosis and occlusions. Both rupture of arterial aneurysm and occlusion of suprahepatic veins, causing Budd-Chiari syndrome, are associated with a high mortality rate. Vascular involvement is more common in male patients than in female patients. Men and patients with a younger age of onset present with a more severe prognosis. In this case report, we describe a very rare cause of intrarenal arterial aneurysm's rupture with previous Budd-Chiari syndrome due to Behcet's disease and successful angiographic embolization of actively bleeding aneurysm. PMID:26491527

  14. Arteriovenous Malformation of the Oral Cavity

    PubMed Central

    Manjunath, S. M.; Shetty, Sujan; Moon, Ninad J.; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep

    2014-01-01

    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 tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070

  15. Classification and diagnosis of ear malformations

    PubMed Central

    Bartel-Friedrich, Sylva; Wulke, Cornelia

    2008-01-01

    In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC), middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation. PMID:22073081

  16. The quantum realization of Arnold and Fibonacci image scrambling

    NASA Astrophysics Data System (ADS)

    Jiang, Nan; Wu, Wen-Ya; Wang, Luo

    2014-05-01

    The quantum Fourier transform, the quantum wavelet transform, etc., have been shown to be a powerful tool in developing quantum algorithms. However, in classical computing, there is another kind of transforms, image scrambling, which are as useful as Fourier transform, wavelet transform, etc. The main aim of image scrambling, which is generally used as the preprocessing or postprocessing in the confidentiality storage and transmission, and image information hiding, was to transform a meaningful image into a meaningless or disordered image in order to enhance the image security. In classical image processing, Arnold and Fibonacci image scrambling are often used. In order to realize these two image scrambling in quantum computers, this paper proposes the scrambling quantum circuits based on the flexible representation for quantum images. The circuits take advantage of the plain adder and adder modulo to factor the classical transformations into basic unitary operators such as Control-NOT gates and Toffoli gates. Theoretical analysis indicates that the network complexity grows linearly with the size of the number to be operated.

  17. Arnold Tongue Mixed Reality States in an Interreality System

    NASA Astrophysics Data System (ADS)

    Gintautas, Vadas; Hubler, Alfred

    2007-03-01

    We present experimental data on the limiting behavior of an interreality system comprising a virtual horizontally driven pendulum coupled to its real-world counterpart, where the interaction time scale is much shorter than the time scale of the dynamical system. We present experimental evidence that if the physical parameters of the virtual system match those of the real system within a certain tolerance, there is a transition from an uncorrelated dual reality state to a mixed reality state of the system in which the motion of the two pendula is highly correlated. The region in parameter space for stable solutions has an Arnold tongue structure for both the experimental data and for a numerical simulation. As virtual systems better approximate real ones, even weak coupling in other interreality systems may produce sudden changes to mixed reality states. This work was supported by the National Science Foundation Grant No. NSF PHY 01-40179, NSF DMS 03-25939 ITR, and NSF DGE 03-38215.

  18. Kolmogorov Arnold Moser aspects of the periodic Hamiltonian Hopf bifurcation

    NASA Astrophysics Data System (ADS)

    Ollé, Mercè; Pacha, Juan R.; Villanueva, Jordi

    2008-08-01

    In this work we consider a 1 : -1 non-semi-simple resonant periodic orbit of a three degrees of freedom real analytic Hamiltonian system. From the formal analysis of the normal form, we prove the branching off of a two-parameter family of two-dimensional invariant tori of the normalized system, whose normal behaviour depends intrinsically on the coefficients of its low-order terms. Thus, only elliptic or elliptic together with parabolic and hyperbolic tori may detach from the resonant periodic orbit. Both patterns are mentioned in the literature as the direct and inverse, respectively, periodic Hopf bifurcation. In this paper we focus on the direct case, which has many applications in several fields of science. Our target is to prove, in the framework of Kolmogorov-Arnold-Moser (KAM) theory, the persistence of most of the (normally) elliptic tori of the normal form, when the whole Hamiltonian is taken into account, and to give a very precise characterization of the parameters labelling them, which can be selected with a very clear dynamical meaning. Furthermore, we give sharp quantitative estimates on the 'density' of surviving tori, when the distance to the resonant periodic orbit goes to zero, and show that the four-dimensional invariant Cantor manifold holding them admits a Whitney-C? extension. Due to the strong degeneracy of the problem, some standard KAM methods for elliptic low-dimensional tori of Hamiltonian systems do not apply directly, so one needs to properly suit these techniques to the context.

  19. Plasma Propulsion Testing Capabilities at Arnold Engineering Development Center

    NASA Technical Reports Server (NTRS)

    Polzin, Kurt A.; Dawbarn, Albert; Moeller, Trevor

    2007-01-01

    This paper describes the results of a series of experiments aimed at quantifying the plasma propulsion testing capabilities of a 12-ft diameter vacuum facility (12V) at USAF-Arnold Engineering Development Center (AEDC). Vacuum is maintained in the 12V facility by cryogenic panels lining the interior of the chamber. The pumping capability of these panels was shown to be great enough to support plasma thrusters operating at input electrical power >20 kW. In addition, a series of plasma diagnostics inside the chamber allowed for measurement of plasma parameters at different spatial locations, providing information regarding the chamber's effect on the global plasma thruster flowfield. The plasma source used in this experiment was Hall thruster manufactured by Busek Co. The thruster was operated at up to 20 kW steady-state power in both a lower current and higher current mode. The vacuum level in the chamber never rose above 9 x 10(exp -6) torr during the course of testing. Langmuir probes, ion flux probes, and Faraday cups were used to quantify the plasma parameters in the chamber. We present the results of these measurements and estimates of pumping speed based on the background pressure level and thruster propellant mass flow rate.

  20. The biomechanical differences of rotational acetabular osteotomy, Chiari osteotomy and shelf procedure in developmental dysplasia of hip

    PubMed Central

    2014-01-01

    Background Rotational acetabular osteotomy (RAO), Chiari osteotomy and shelf procedure are important treatments to delay the progression of osteoarthritis in developmental dysplasia of hip (DDH) patients, but their biomechanical differences are still unknown. This study was to evaluate the different biomechanical changes of hip joint after these three surgeries. Methods Sixteen DDH models of 8 human cadaver specimens were reconstructed, and treated by different surgeries, and then strain around femoral head was evaluated by strain gauges. Results Hip strain value of DDH model was decreased after treated by shelf procedure (Pleft = 0.016 and Pright = 0.021) and rotational acetabular osteotomy (P = 0.004), but not in Chiari osteotomy (P = 0.856). Moreover, the improved ratio of RAO treatment was better than shelf procedure (P = 0.015) and Chiari osteotomy (P = 0.0007), and the descendent range of shelf procedure was greater than Chiari osteotomy (P = 0.018). Conclusions From biomechanics points, RAO was more effective in relieving hip joint stress compared with shelf procedure and Chiari osteotomy. PMID:24555880

  1. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. PMID:26969229

  2. 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.

  3. [Prenatal diagnosis of central nervous system malformations].

    PubMed

    Langmár, Zoltán; Németh, Miklós; Csaba, Ákos; Szigeti, Zsanett; Joó, József Gábor

    2013-07-30

    The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the prenatal diagnostics of the central nervous system anomalies. PMID:23971353

  4. Myelopathy-mimicking symptoms of epidural venous engorgement and syringomyelia due to inferior vena cava stenosis at the thoracolumbar junction in a patient with Budd-Chiari syndrome.

    PubMed

    Lee, Jung-Hee; Song, Wook-Jae; Kang, Kyung-Chung

    2015-10-01

    Epidural venous engorgement can result from various lesions, such as arteriovenous malformation, thrombosis or occlusion of the inferior vena cava (IVC), or an abdominal masslike lesion. Most patients with these problems complain of low-back pain, radicular pain, or neurogenic claudication, which are symptoms suggestive of disc herniation or spinal stenosis. However, these patients rarely exhibit neurological deficits or cauda equina syndrome. The authors encountered a case of a 60-year-old man presenting with lower-extremity weakness and voiding difficulty for a period of 1 year. To investigate the patient's myelopathy-mimicking symptoms, a lumbar spine MRI scan was performed. The MR images exhibited tortuous and dilated spinal vessels compressing the spinal cord and thecal sac at the T11-L3 level, which were concurrent with syringomyelia evidenced by a 22 × 2.5-mm cyst at the T11-12 level. 3D CT scanning of the whole aorta revealed total occlusion and regression of the IVC in the intrahepatic region 3 cm inferior to the right atrium and dilation of multiple collateral veins. The patient was diagnosed with chronic Budd-Chiari syndrome Type I. The authors performed venography, followed by intrahepatic IVC recanalization via stent placement under fluoroscopic and ultra sonographic guidance and without surgical exploration. After this treatment, there was a marked decrease in epidural venous engorgement and the patient's symptoms resolved almost completely. This case indicates that epidural venous engorgement at thoracolumbar levels may cause symptoms suggestive of myelopathy and can be successfully treated by minimally invasive procedures to eliminate the underlying causes. PMID:26140407

  5. Arnold's nerve cough reflex: evidence for chronic cough as a sensory vagal neuropathy.

    PubMed

    Ryan, Nicole M; Gibson, Peter G; Birring, Surinder S

    2014-10-01

    Arnold's nerve ear-cough reflex is recognised to occur uncommonly in patients with chronic cough. In these patients, mechanical stimulation of the external auditory meatus can activate the auricular branch of the vagus nerve (Arnold's nerve) and evoke reflex cough. This is an example of hypersensitivity of vagal afferent nerves, and there is now an increasing recognition that many cases of refractory or idiopathic cough may be due to a sensory neuropathy of the vagus nerve. We present two cases where the cause of refractory chronic cough was due to sensory neuropathy associated with ear-cough reflex hypersensitivity. In both cases, the cough as well as the Arnold's nerve reflex hypersensitivity were successfully treated with gabapentin, a treatment that has previously been shown to be effective in the treatment of cough due to sensory laryngeal neuropathy (SLN). PMID:25383210

  6. Color information security system using Arnold transform and double structured phase encoding in gyrator transform domain

    NASA Astrophysics Data System (ADS)

    Abuturab, Muhammad Rafiq

    2013-02-01

    A new method for encoding color information based on Arnold transform and double structured phase encoding in gyrator transform domain is introduced. The phase function of Fresnel zone plate is used as structured phase mask. Prior to the encryption, the decomposed red, green, and blue components of the color image are independently permutated by Arnold transform, transmitted through structured phase mask, and then performed gyrator transform. The system parameters of Arnold transform, structured phase mask, and gyrator transform in each component image provide as encryption keys of the scheme. The proposed system avoids problems arising from misalignment. The optical implementation has also been proposed. Numerical simulations' results are presented to verify the security, validity, and possibility of the proposed approach.

  7. 75 FR 6737 - FPL Energy Duane Arnold, LLC; Notice of Availability of the Draft Supplement 42 to the Generic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-10

    ... alternative energy sources. The draft Supplement 42 to the GEIS is publicly available at the NRC Public... COMMISSION FPL Energy Duane Arnold, LLC; Notice of Availability of the Draft Supplement 42 to the Generic... of Duane Arnold Energy Center Notice is hereby given that the U.S. Nuclear Regulatory Commission...

  8. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  9. Cerebral dysplastic vascular malformation: a developmental arrest

    SciTech Connect

    Wortzman, G.; Sima, A.A.F.; Morley, T.P.

    1983-08-01

    A cryptic malformation of the brain was found to represent an arrest in vascular development. Microscopy showed plump endothelium of blood vessels, which did not have a normal lumen and consisted of solid cords of cells. The microscopic, angiographic, and computed tomographic appearance of this anomaly are discussed and compared with cavernous angiomas, arteriovenous malformations, and venous angiomas.

  10. Anatomical Study of Chiari Network and the Remnant of Left Venous Valve in the Interior of Right Atrium

    PubMed Central

    Jansirani, D. Devi; Deep, S. Shiva; Anandaraja, S.

    2015-01-01

    Chiari network occurs due to incomplete resorption of right valve of sinus venosus. It is often noticed as fenestrated membranous structure or reticular network like structure in the valve of inferior vena cava and coronary sinus. The remnant of left venous valve is observed as trabeculae over the fossa ovalis. The incidence of Chiari network and the remnant of left venous valve were studied in 80 cadaveric hearts utilized for teaching the undergraduates. The right atrium was opened anterior to sulcus terminalis and the interior was examined for the presence of these embryological remnants. The incidence of Chiari network and left venous valve in the present study is 3.75% and 7.5%, respectively. Chiari network was observed as a fenestrated membranous structure in 2 specimens and a reticular network in 1 specimen, with variable extension to coronary sinus opening and right atrial wall. The remnant of left venous valve was observed as multiple fine strands in 3 specimens and trabecular structure in 3 specimens. These structures may create diagnostic confusion, difficulty in interventional procedures, and complications like thromboembolic events. Hence, the knowledge about the incidence, morphology, and clinical manifestations of these rare embryological remnants is mandatory. PMID:26442159

  11. Color image encryption by using Arnold and discrete fractional random transforms in IHS space

    NASA Astrophysics Data System (ADS)

    Guo, Qing; Liu, Zhengjun; Liu, Shutian

    2010-12-01

    In this paper, we propose a novel color image encryption method using discrete fractional random transform (DFRNT) and Arnold transform (AT) in the intensity-hue-saturation (IHS) color space. A color image is converted into IHS space from the standard red-green-blue (RGB) space. The intensity component is encrypted by DFRNT, which is a kind of encryption with the secrecy of pixel value and pixel position simultaneously. The hue and saturation components are encrypted using Arnold transform, which is a kind of position scrambling. Comparing to the classical double-random-phase encoding, DFRNT encryption method can save storage space of the encryption keys required to be stored for decryption, meanwhile with the similar security. The fractional order of DFRNT, the random matrix of DFRNT and the iteration numbers of Arnold transform are the encryption keys to enhance the security of the proposed scheme. The performance of the proposed scheme is analyzed against the variation in fractional order, the change of Arnold transform iteration number, known-plaintext attack, noise addition and occlusion of the encrypted image, respectively. Numerical simulation results have demonstrated the feasibility and effectiveness of the proposed method.

  12. Internal Evaluation a Quarter-Century Later: A Conversation with Arnold J. Love

    ERIC Educational Resources Information Center

    Volkov, Boris B.

    2011-01-01

    This chapter features a recent conversation with Dr. Arnold J. Love, a long-time proponent of internal evaluation and one of the most cited internal evaluation authors. In 1983, Love edited the first issue of "New Directions for Program Evaluation" on the topic of internal evaluation. He is the author of the book "Internal Evaluation: Building…

  13. Boston's Arnold Arboretum: A Place for Study and Recreation. Teaching with Historic Places.

    ERIC Educational Resources Information Center

    Banks, Alan

    This lesson is based on the National Register of Historic Places registration file for the Arnold Arboretum (Massachusetts) and other source material about the Arboretum and Frederick Law Olmstead. The lesson focuses on the first arboretum in the United States, which was part of Olmstead's plan for Boston's park system, known as the "Emerald…

  14. A Bold Perspective on Counseling with Couples and Families: An Interview with Arnold A. Lazarus.

    ERIC Educational Resources Information Center

    Christensen, Teresa M.

    2001-01-01

    Illuminates a collaborative effort between the author and Dr. Arnold A. Lazarus, an internationally known presenter, author, and therapist. Many consider Lazarus to be a pioneer of behavior therapy and brief psychotherapy. Presents details about his unique perspective regarding therapy with couples and families. Provides case examples that…

  15. What Rural Education Research is of Most Worth? A Reply to Arnold, Newman, Gaddy, and Dean

    ERIC Educational Resources Information Center

    Howley, Craig B.; Theobald, Paul; Howley, Aimee

    2005-01-01

    Offering a response to the question, "What rural education research is of most worth?", the authors recommend an approach very different from the one taken by Arnold, Newman, Gaddy, and Dean (2005) in their consideration of the rural education research literature. They remind readers that about 150 years ago, Herbert Spencer put a similar…

  16. Seedbed of Reform: Arnold Guyot and School Geography in Massachusetts, 1849-1855

    ERIC Educational Resources Information Center

    Koelsch, William A.

    2008-01-01

    Swiss-born Arnold Henri Guyot (1807-1884) was the first professionally trained geographer to hold an academic position in the United States. After his migration to this country in 1848 he lived for several years in Massachusetts. During this period he introduced contemporary German-Swiss ideas of geography to key opinion leaders in an important…

  17. Arnold's Advantages: How Governor Schwarzenegger Acquired English through De Facto Bilingual Education

    ERIC Educational Resources Information Center

    Ramos, Francisco; Krashen, Stephen

    2013-01-01

    Governor Arnold Schwarzenegger has repeatedly mentioned that immigrants to the United States should do what he did to acquire English: Avoid using their first languages and speak, listen to, and read a vast amount of materials in English--a combination he referred to as "immersion." Yet, Schwarzenegger's real path to successful…

  18. Internal Evaluation a Quarter-Century Later: A Conversation with Arnold J. Love

    ERIC Educational Resources Information Center

    Volkov, Boris B.

    2011-01-01

    This chapter features a recent conversation with Dr. Arnold J. Love, a long-time proponent of internal evaluation and one of the most cited internal evaluation authors. In 1983, Love edited the first issue of "New Directions for Program Evaluation" on the topic of internal evaluation. He is the author of the book "Internal Evaluation: Building…

  19. Arnold's Advantages: How Governor Schwarzenegger Acquired English through De Facto Bilingual Education

    ERIC Educational Resources Information Center

    Ramos, Francisco; Krashen, Stephen

    2013-01-01

    Governor Arnold Schwarzenegger has repeatedly mentioned that immigrants to the United States should do what he did to acquire English: Avoid using their first languages and speak, listen to, and read a vast amount of materials in English--a combination he referred to as "immersion." Yet, Schwarzenegger's real path to successful…

  20. What Rural Education Research is of Most Worth? A Reply to Arnold, Newman, Gaddy, and Dean

    ERIC Educational Resources Information Center

    Howley, Craig B.; Theobald, Paul; Howley, Aimee

    2005-01-01

    Offering a response to the question, "What rural education research is of most worth?", the authors recommend an approach very different from the one taken by Arnold, Newman, Gaddy, and Dean (2005) in their consideration of the rural education research literature. They remind readers that about 150 years ago, Herbert Spencer put a similar…

  1. Seedbed of Reform: Arnold Guyot and School Geography in Massachusetts, 1849-1855

    ERIC Educational Resources Information Center

    Koelsch, William A.

    2008-01-01

    Swiss-born Arnold Henri Guyot (1807-1884) was the first professionally trained geographer to hold an academic position in the United States. After his migration to this country in 1848 he lived for several years in Massachusetts. During this period he introduced contemporary German-Swiss ideas of geography to key opinion leaders in an important…

  2. New insights into craniofacial malformations.

    PubMed

    Twigg, Stephen R F; Wilkie, Andrew O M

    2015-10-15

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  3. Malformations in Infants of Diabetic Mothers

    PubMed Central

    MILLS, JAMES L.

    2014-01-01

    Maternal insulin-dependent diabetes has long been associated with congenital malformations. As other causes of mortality and morbidity have been eliminated or reduced, malformations have become increasingly prominent. Although there is not universal agreement, the great majority of investigators find a two- to threefold increase in malformations in infants of insulin-dependent diabetic mothers. This increase is not seen in infants of gestational diabetics. It probably is not present in women whose diabetes can be controlled by diet or oral hypoglycemic agents. The risk does not appear to be primarily genetic since diabetic fathers do not have an increased number of malformed offspring. Most studies show a generalized increase in malformations involving multiple organ systems. Multiple malformations seem to be more common in diabetic than non-diabetic infants. Caudal regression has the strongest association with diabetes, occurring roughly 200 times more frequently in infants of diabetic mothers than in other infants. The teratogenic mechanism in diabetes is not known. Hyperglycemia may be important but human studies focusing on the period of organogenesis are lacking. Hypoglycemia has also been suggested based mainly on animal experiments. Insulin appears unlikely. Numerous other factors including vascular disease, hypoxia, ketone and amino acid abnormalities, glycosylation of proteins, or hormone imbalances could be teratogenic. None has been studied in sufficient detail to make a judgment. A large-scale prospective study is required to determine early fetal loss rates, correlate metabolic status during organogenesis with outcome, and assess the effect of diabetic control on malformation rates. PMID:20973049

  4. [Acrania ultrasonography diagnosis: a rare embryologic malformation].

    PubMed

    Rezgui-Marhoul, Lamia; Saïd, Wassim; Dridi, Lassaad; Ben Farhat, Leila; Ben M'Rad, Salmen; Hendaoui, Lotfi

    2004-06-01

    The authors report a case of acrania diagnosed on antenatal period in a routine morphologic ultrasonography at 19 weeks of intra uterine gestation on a 20-year-old patient, gravida 1, para 0. Acrania associated with exencephaly is a rare and lethal malformation characterized by a defect of development of the flat bones of the scalp whereas cerebral tissue is present often abnormal. Ultrasonography had allowed to find besides the cerebral malformation, spinal and visceral fetal malformations as well as cord abnormality that included only two vessels. PMID:15517958

  5. Computed tomography of congenital brain malformations

    SciTech Connect

    Sarwar, M.

    1984-01-01

    This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

  6. Antenatal diagnosis of aneurysmal malformation of the vein of Galen.

    PubMed

    Darji, Parth J; Gandhi, Viplav S; Banker, Hiral; Chaudhari, Hemang

    2015-01-01

    Vein of Galen malformation (VGAM) results from an aneurysmal aberration with an arteriovenous shunting of blood. Vein of Galen aneurysmal malformations are the most frequent arteriovenous malformations in infants and fetuses. The congenital malformation develops during weeks 6-11 of fetal development. Infants often die from high-output congestive heart failure. PMID:26643190

  7. Contribution of congenital malformation to perinatal mortality in Lagos, Nigeria.

    PubMed

    Abudu, O O; Uguru, V; Olude, O

    1988-08-01

    Over a 17-month period we prospectively recorded identifiable congenital malformations at delivery in singleton births in our hospital. Despite the prevailing religious and cultural belief we carried out autopsies in 41% of the perinatal deaths that occurred during the study period. Out of a total of 63 (21/1000 singleton births) congenital malformations discovered, 21 (33%) were identified at autopsy only. About 16% of total perinatal deaths were due to congenital malformation. Cardiovascular malformations accounted for about 40% of perinatal deaths from congenital malformations followed by central nervous system malformation (23.3%), gastrointestinal malformations (20%), musculo-skeletal malformations (6.7%); renal malformations (3.3%) and others (6.7%). No relationship between maternal age, parity and congenital malformation was found. The results from this study suggest that with the use of autopsy, teratology may contribute significantly to the prevailing high perinatal mortality in Lagos more than was previously thought. PMID:2905300

  8. Current concepts in lymphatic malformation.

    PubMed

    Lee, B B; Kim, Y W; Seo, J M; Hwang, J H; Do, Y S; Kim, D I; Byun, H S; Lee, S K; Huh, S H; Hyun, W S

    2005-01-01

    A lymphatic malformation (LM) is the most common form of congenital vascular malformation (CVM). The new Hamburg classification of CVM distinguishes the truncular (T) form from the extratruncular (ET) form of LMs. Both are consequences of a developmental arrest at the different stages of lymphangiogenesis as a result of defective genes. The purpose of this review was to evaluate the current management results of both forms of LMs. A retrospective review of the clinical data of 315 patients with a diagnosis of LMs treated between September 1994 and December 2001 was performed. Lymphoscintigraphy was the most frequent diagnostic test. The patients with the ET form were treated with sclerotherapy with OK-432 and/or ethanol. Combinations of CDP (complex decongestive physiotherapy) and/or compressotherapy were used to treat all the T-form patients. In addition, surgery, either reconstructive or ablative, was offered to patients with the T form who failed to respond to the proper CDP. A multidisciplinary team performed the management of LM, and the results were evaluated every 6 months. Among 797 patients with CVM, 315 were confirmed to have LMs, either as the T form (226) or the ET form (89). Another 66 LMs were diagnosed with hemolymphatic malformations (HLM). Most of the ET forms (89/315) were the cystic type (70/89), while the T forms included aplasia and/or an obstruction (204/226). The ET form was most frequent in the head, neck, and thorax (69/89). The T form was located most frequently to the extremities (202/226), mostly to the lower limb (180/202). Two hundred and twenty-six T forms belonged to the various clinical stages: stages I-32, II-104, III-48, IV-18, and an unclear stage-24. The ET form was treated with sclerotherapy using OK-432 (108/120) and absolute ethanol (12/120). Among the 11 patients with the multiple ET form, 7 patients underwent perioperative sclerotherapy with OK-432 and a subsequent surgical excision. The clinical response of the T form at the extremity to CDP was excellent to good in a majority of clinical stages I to II (121/136) but decreased to a good to fair degree in stages III to IV (31/66). The additional surgical therapy, either reconstructive (10/19) or ablative (9/19), provided limited success in improving CDP efficacy, owing mainly to poor compliance. The long-term outcome of the initial success through self-motivated home-maintenance care during the follow-up period of up to 48 months was totally dependent on patient compliance. OK-432 sclerotherapy to 51 ET forms has shown excellent results on 88.9% of the cystic type (40/45) and 50% (3/6) of the cavernous type (minimum follow-up for 24 months). Seventeen ET forms in 7 patients were treated with a preoperative OK-432 sclerotherapy and a subsequent surgical excision, which provided good to excellent results in 14 for a minimum of 24 months. Primary lymphedema, which is the T form of LMs, can be managed safely by a combination of CDP with compressotherapy. Patients with good compliance can benefit from additional surgical therapy, either reconstructive or ablative. The ET form, particularly the cystic type, can be treated with various scleroagents that are preferably less toxic as the primary therapy. A surgical excision with or without perioperative sclerotherapy provides good results for patients with the localized cavernous type of the ET form. A multidisciplinary team approach is essential for the proper care of LM. PMID:15696250

  9. Genetics Home Reference: Dandy-Walker malformation

    MedlinePLUS

    ... right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through ... Walker malformation? agenesis ; atresia ; brainstem ; cell ; cerebellum ; chromosome ; corpus callosum ; diabetes ; disabilities ; disability ; fetus ; gait ; hydrocephalus ; hypoplasia ; imaging ; ...

  10. What Is an Arteriovenous Malformation (AVM)?

    MedlinePLUS

    ... the rest of the body. Are there different types of brain AVMs? All blood vessel malformations involving the brain ... taken of all the blood vessels in the brain. For any type of treatment involving an AVM, an angiogram may ...

  11. Glomuvenous malformation: magnetic resonance imaging findings.

    PubMed

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. PMID:24996811

  12. Genetics Home Reference: Cerebral cavernous malformation

    MedlinePLUS

    ... and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a ... cell ; central nervous system ; cerebral hemorrhage ; CNS ; cutaneous ; elastic ; familial ; family history ; gene ; hemangioma ; hemorrhage ; inheritance ; malformation ; ...

  13. Genetic analysis of malformations causing perinatal mortality.

    PubMed

    Young, I D; Rickett, A B; Clarke, M

    1986-02-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. PMID:3950936

  14. Genetic analysis of malformations causing perinatal mortality.

    PubMed Central

    Young, I D; Rickett, A B; Clarke, M

    1986-01-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. PMID:3950936

  15. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  16. Imaging diagnosis--split cord malformation.

    PubMed

    Zani, Davide D; De Zani, Donatella; Morandi, Nicola; Biggi, Marianna; Belloli, Angelo G; Riccaboni, Pietro; Rondena, Marco; Di Giancamillo, Mauro; Pravettoni, Davide

    2010-01-01

    The features of a calf with a split cord malformation are described. Clinically, there was severe cervicothoracic kyphoscoliosis and an interscapular dermal sinus associated with cerebrospinal fluid drainage. Using magnetic resonance imaging, complete duplication of the spinal cord at the cervical intumescence was detected. There was associated syringohydromyelia, multiple cervicothoracic vertebral malformations resulting in kyphoscoliosis and rachischisis, herniation of the cerebellar vermis, meningoencephalocele, and calvarial defects. PMID:20166395

  17. Jupiter's winds and Arnol'd's second stability theorem: Slowly moving waves and neutral stability

    NASA Technical Reports Server (NTRS)

    Stamp, Andrew P.; Dowling, Timothy E.

    1993-01-01

    Since the Voyager encounters in 1979, it has been known that Jupiter's cloud-top zonal winds violate the barotropic stability criterion. A vortex-tube stretching analysis of the Voyager wind data indicates that the more general Charney-Stern stability criterion is also violated. On the other hand, the zonal winds determined by tracking cloud features in Hubble Space Telescope images taken in 1991 precisely match the zonal winds determined by tracking cloud features in Voyager images, and it is hard to understand how a complicated zonal wind profile like Jupiter's could be unstable and yet not change at all in 12 years. In fact, there are at least two unknown ways to violate the Charney-Stern stability criterion and still have a stable flow. The better known of these is called Fjortoft's theorem, or Arnol'd's 1st theorem for the case of large-amplitude perturbations. Although the Fjortoft-Arnol'd theorem has been extended from the quasi-geostrophic equations to the primitive equations, the basic requirement that the potential vorticity be an increasing function of streamfunction is opposite to the case found in Jupiter, where the Voyager data indicate that the potential vorticity is a decreasing function of streamfunction. But this second case is precisely that which is covered by Arnol'd's 2nd stability theorem. In fact, the Voyager data suggest that Jupiter's zonal winds are neutrally stable with respect to Arnol'd's 2nd stability theorem. Here, we analyze the linear stability problem of a one-parameter family of sinusoidal zonal wind profiles that are close to neutral stability with respect to Arnol'd's 2nd stability theorem. We find numerically that the most unstable mode is always stationary, which may help to explain the slowly moving mode 10 waves observed on Jupiter. We find that violation of Arnol'd's 2nd stability theorem is both necessary and sufficient for instability of sinusoidal profiles. However, there appears to be no simple extension of Arnol'd's 2nd stability theorem to the primitive equations. Nevertheless, the primitive growth rates are small, and the primitive system is still governed by the quasi-geostrophic neutral-stability configuration.

  18. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.

    PubMed

    Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A

    2013-01-01

    Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773

  19. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  20. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    PubMed Central

    Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

    2015-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

  1. Alveolar hydatid disease of the liver with Budd-Chiari syndrome.

    PubMed Central

    Khuroo, M. S.; Datta, D. V.; Khoshy, A.; Mitra, S. K.; Chhuttani, P. N.

    1980-01-01

    Alveolar hydatid disease in man is the intermediate stage in the life cycle of the tapeworm Echinococcus multilocularis. This is a rare disease restricted to very few areas of the world. The occurrence of this disease in India is now described for (so far as the authors are aware) the first time. Some unusual features of the disease are highlighted in this patient. The hepatic lesion had infiltrated into the right atrial wall resembling an atrial tumour. The ostium of the inferior vena cava was occluded, causing Budd-Chiari syndrome. The radiological and haemodynamic study of the hepatic outflow tract in this disease are documented. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:7393812

  2. A canine model for IVC occlusive form of Budd-Chiari syndrome using endovascular technique.

    PubMed

    Chen, Shiyuan; Gao, Yong; Yu, Chaowen; Zhang, Mingzhao; Nie, Zhonglin

    2013-01-01

    The objective of this study was to assess the portal/hepatic changes in a newly designed canine model for Budd-Chiari syndrome (BCS). The inferior vena cava (IVC) was occluded using a diagram stent under general anesthesia in 10 mongrel dogs under the guidance of percutaneous angiography. Five dogs that received IVC angiography only were used as sham controls. Occlusion of the IVC increased the diameter of the hepatic veins, portal vein, and IVC. Massive ascites, significantly increased abdominal circumference, varying degrees of esophageal varices, congestion, cirrhosis, and fibrosis of the liver were also noted. BCS could be readily established by placing a diaphragm-stent in the IVC via a percutaneous endovascular approach. PMID:23712871

  3. Percutaneous Transjugular Direct Porto-caval Shunt in Patients with Budd-Chiari Syndrome

    SciTech Connect

    Quateen, A.; Pech, M.; Berg, T.; Bergk, A.; Podrabsky, P.; Felix, R.; Ricke, J.

    2006-08-15

    The purpose of the study was to evaluate the feasibility and effectiveness of direct porto-caval shunts in patients with Budd-Chiari syndrome (BCS) in whom there is no access to the hepatic veins during transjugular intrahepatic portosystemic shunt (TIPSS). We included six consecutive patients with fulminant/acute Budd-Chiari syndrome (mean age: 35 years) in whom a conventional TIPSS was not possible due to inaccessible hepatic veins. We performed a direct porto-caval shunt via a transhepatic approach. Patients were followed up by means of clinical examination, laboratory investigations, and Doppler ultrasound. TIPSS implantation from the inferior vena cava (IVC) was successful in all six patients (100%). The median transhepatic shunt length was 9 cm (8-10 cm). No procedure-related complications were observed in our patients. Early shunt occlusion occurred in three out of six patients (50%). In all three of these patients, the stent used to stabilize the shunt ended 1-2 cm before reaching the IVC. All occlusions were successfully recanalized. One of these patients developed recurrent early shunt as well as mesenteric and splenic vein occlusions. She died 7 days after TIPSS placement due to an unmanageable coagulation disorder. The remaining five patients were followed up by planned clinical examination and laboratory investigations (mean follow-up time was 15 months; patient 1 was followed up for 13 months, patient 2 for 14 months, patient 3 for 15 months, and patients 4 and 5 for 16 months) and all displayed a complete and durable resolution of liver failure and ascites without reintervention. In patients with acute liver failure originating from BCS and inaccessible hepatic veins, a direct transhepatic porto-caval shunt can be performed safely and effectively under ultrasound guidance. Future studies in larger patient groups should investigate if the patency of transcaval TIPSS with long transhepatic shunt segments is similar compared to conventional TIPSS via the hepatic vein.

  4. Budd-Chiari syndrome in urology: Impact on nephrectomy for advanced renal cell carcinoma

    PubMed Central

    Shirodkar, Samir P.; Soloway, Mark S.; Ciancio, Gaetano

    2011-01-01

    Objectives: Budd-Chiari syndrome (BCS) is a poorly understood entity in urology. It results from obstruction of the hepatic veins and the subsequent complications. It has been infrequently reported to be secondary to hepatic venous obstruction from invasion by an inferior vena cava (IVC) tumor thrombus in renal cell carcinoma (RCC). We report the largest known series of patients with RCC and BCS. Patients and Methods: Ten patients presented to a tertiary hospital with locally advanced RCC with IVC tumor thrombus. All were evaluated and had clinical or radiographic evidence of BCS. All underwent nephrectomy, IVC thrombectomy or ligation, and tumor removal from the hepatic veins. The perioperative and pathological factors were measured. These included estimated blood loss (EBL) and transfusions. Inpatient factors including duration of intubation, length of intensive care unit (ICU) stay, and overall length of stay (LOS) were recorded. The tumor-free status was evaluated. Results: The average age was 59 years. No intraoperative deaths occurred. Two intraoperative complications were noted. The mean EBL was 4244 cc; mean surgery length was 8 hours 12 minutes; and the mean ICU stay was nine days. The overall LOS averaged 13.25 days. One patient died postoperatively of sepsis and multisystem organ failure. One patient required reoperation for an abdominal wall hematoma caused by subcutaneous enoxaparin administration. Average follow-up was 28 months. Five patients are alive with no evidence of disease. Conclusions: Budd-Chiari syndrome is a rare entity in urology, with a potential for significant morbidity and mortality. Surgical excision of the primary tumor along with thrombectomy results in alleviation of BCS and improvement in the patient. PMID:22022058

  5. High-order synchronization, transitions, and competition among Arnold tongues in a rotator under harmonic forcing

    NASA Astrophysics Data System (ADS)

    García-Álvarez, David; Stefanovska, Aneta; McClintock, Peter V. E.

    2008-05-01

    We consider a rotator whose equation of motion for the angle ? consists of the zeroth and first Fourier modes. Numerical analysis based on the trailing of saddle-node bifurcations is used to locate the n:1 Arnold tongues where synchronization occurs. Several of them are wide enough for high-order synchronization to be seen in passive observations. By sweeping the system parameters within a certain range, we find that the stronger the dependence of ?? on ? , the wider the regions of synchronization. Use of a synchronization index reveals a vast number of very narrow n:m Arnold tongues. A competition phenomenon among the tongues is observed, in that they “push” and “squeeze” one another: as some tongues widen, others narrow. Two mechanisms for transitions between different n:m synchronization states are considered: slow variation of the driving frequency, and the influence of low-frequency noise on the rotator.

  6. The search for Alma Arnold: chiropractic's forgotten woman pioneer, 1903-1938.

    PubMed

    Gibbons, R W

    1996-12-01

    Alma Cusian Arnold (1871-19??) was one of the first woman chiropractors, having graduated from Langsworthy's American School in 1903. Within the next decade, she would establish dual practices in Washington and New York with a patient constituency which included members of Congress, a Vice President and Clara Barton, the founder of the American Red Cross. She authored a book, was president of two schools of chiropractic and was arrested and imprisoned for her advocacy of the new profession. Engaging in critical dialogue over her technique with both Palmers, Arnold would establish a "Healtharium" with Terrance V. Powderly, the most prominent labor leader of the late 19th century and later Commissioner of Immigration. Her story is a personification of the exceptional men and women who formulated early chiropractic. PMID:11619052

  7. Comparison of ultrasonography, computed tomography and 99mTc liver scan in diagnosis of Budd-Chiari syndrome.

    PubMed Central

    Gupta, S; Barter, S; Phillips, G W; Gibson, R N; Hodgson, H J

    1987-01-01

    Ultrasonography, computed tomography and 99mTc liver scanning are all useful in diagnosis of patients with the Budd-Chiari syndrome. In a study to determine their comparative value characteristic findings were recorded in all nine patients at ultrasonography and in seven patients at computed tomography. In contrast 99mTc liver scan showed a characteristic pattern in only one of eight patients. In our experience intrahepatic venous abnormalities were seen better at ultrasonography than at computed tomography. In addition, abnormality in the direction of blood flow could be detected by pulsed Doppler examination. Ultrasonography is relatively inexpensive, readily accessible, does not require administration of radiation or contrast agents and therefore should be the primary non-invasive investigation of patients with Budd-Chiari syndrome, or those at risk of developing it. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:3552905

  8. Successful recanalization of occluded intrahepatic inferior vena cava in post-liver transplant Budd-Chiari syndrome.

    PubMed

    Garg, Deepak; Lopera, Jorge Enrique

    2013-07-01

    Budd-Chiari syndrome following a liver transplant is an uncommon phenomenon. We present a case of endovascular management of a focal circumferential inferior vena cava (IVC) occlusion at the anastomosis that developed 10 years after orthotopic liver transplantation. It was successfully recanalized using the stiff end of the guidewire and percutaneous transluminal angioplasty with a high-pressure balloon. During a 14-month follow up, the IVC remained patent and did not require further intervention. PMID:23475545

  9. Delayed presentation of anorectal malformations

    PubMed Central

    Sinha, Shandip Kumar; Kanojia, Ravi P.; Wakhlu, Ashish; Rawat, J. D.; Kureel, S. N.; Tandon, R. K.

    2008-01-01

    Aims and Objectives: Delayed management of anorectal malformation (ARM) increases the surgical and functional complications for the patient. We defined “delayed presentation of ARM” and reviewed our patients with ARM to find out the incidence and causes of delayed presentation. Materials and Methods: Patients satisfying the criteria of “delayed presentation of ARM” were involved. Detailed information of each patient including the mode of presentation, associated anomalies, plan of management and follow-up was obtained from the hospital records. Results: Between 2003 and 2006, 43 patients satisfied our criteria of “delayed presentation of ARM”. There were 21 males and 22 females. Seventeen of these males presented with low-type ARM. Eleven of them were managed by a single-stage procedure. These “delayed presenters” had to live with constipation, inadequate weight gain and parental anxiety for a greater time. Analysis of the outcomes showed more functional complications in patients who had undergone failed perineal surgery previously. In females with low ARM, the procedure of choice was anterior sagittal anorectoplasty (ASARP). Single stage surgery provides good outcomes for most of low type of ARMs. High-type ARMs in males and females were managed by a staged procedure. Conclusion: “Delayed presentation of ARM” is a major group of ARM in our setup. The management and results of their treatment are not different from those of the early presenters. The most common cause of delayed ARM is wrong advice given by the health care providers followed by inadequate treatment elsewhere. Corrective surgeries taking second attempt in perineum always produces poor outcomes. PMID:20011470

  10. Arteriovenous Malformations in the Brain.

    PubMed

    Graham, Glenn D.

    2002-11-01

    Arteriovenous malformations (AVM) are a leading cause of intracerebral hemorrhage, especially among the young. Because they pose a lifelong risk of serious bleeding, definitive treatment to obliterate the AVM should be pursued in the majority of patients. Microsurgical resection of a small AVM located in the superficial or non- eloquent brain achieves high cure rates with low morbidity, and is the recommended choice for such lesions. Radiosurgery with gamma knife, linear accelerator, or heavy ion beam irradiation is an alternative therapy for AVM treatments less than 3 centimeters in diameter located in brain regions where surgery is likely to produce major neurologic deficits, or for patients unable or unwilling to undergo craniotomy and resection. Cure rates are lower than with microsurgery, and obliteration of the lesion may take 2 to 3 years, during which time the patient remains at risk for hemorrhage. Because rates of recurrent hemorrhage are higher than rates of initial bleeding, radiosurgery may be a good option for patients who have not yet had an intracranial hemorrhage. Endovascular embolization as sole therapy is curative only in a small percentage of cases, but is recommended as part of a multimodal approach to reduce the size of a large AVM, and decrease bleeding risk of lesions with multiple or inaccessible feeding vessels or associated aneurysms prior to surgery or radiotherapy. Currently, treatment decisions must rely solely on Class III evidence from case series and expert opinion. Randomized clinical trials are needed to provide objective guidelines for the future management of patients with an AVM. PMID:12354370

  11. Anorectal Malformation: Paediatric Problem Presenting in Adult

    PubMed Central

    Chavan, Rahulkumar N.; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  12. Vascular malformations: localized defects in vascular morphogenesis.

    PubMed

    Brouillard, P; Vikkula, M

    2003-05-01

    Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells. PMID:12752563

  13. Extrapyramidal dysfunction with cerebral arteriovenous malformations 1

    PubMed Central

    Lobo-Antunes, Joao; Yahr, Melvin D.; Hilal, Sadek K.

    1974-01-01

    Arteriovenous malformations have only rarely been implicated as a cause of basal ganglia dysfunction. In four instances where such a lesion was uncovered, abnormal involuntary movements were present. In two, tremor involving the contralateral limbs occurred, while in others the head and neck were involved in dystonic movements and posture. The clinical and angiographic characteristics of these four patients have been assessed and are presented in detail in this report. The possible mechanism by which arteriovenous malformations may disturb the internal circuitry of the basal ganglia and induce symptoms are discussed. Images PMID:4829531

  14. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  15. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is an hamartomatous congenital pulmonary airway malformation with incidence ranging between 1:10,000 and 1:35,000 newborns. Currently CCAM is classified into five groups according to clinical and pathological features. The clinical outcome varies depending on the subtype and the extent of involvement. The authors report the case of a premature male newborn with the prenatal diagnosis of CCAM Type 1 associated with cardiac right axis deviation, who died 67 hours after birth due to respiratory failure. In addition to the autopsy report of this rare entity, the authors present its classification and prognosis. PMID:26558243

  16. Total knee arthroplasty in vascular malformation.

    PubMed

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel-Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  17. CT of congenital malformations of the lung.

    PubMed

    Mata, J M; Cáceres, J; Lucaya, J; García-Conesa, J A

    1990-07-01

    We reviewed 40 cases of congenital malformations of the lung that were studied with both plain radiography and computed tomography (CT). We compared the CT findings with those of radiography. We found that CT was helpful in the management of these cases because it helped confirm the diagnosis, demonstrated unsuspected findings, and better depicted anatomic extent of anomalies, thus allowing better planning for surgery. We believe that CT is the method of choice for the study of congenital lung malformations and that it should be used before more invasive procedures such as bronchography or aortography. PMID:2377765

  18. Total knee arthroplasty in vascular malformation

    PubMed Central

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  19. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  20. [Lymphatic malformations in the head and neck area].

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  1. Differential Gene Expression in Human Cerebrovascular Malformations

    PubMed Central

    Shenkar, Robert; Elliott, J. Paul; Diener, Katrina; Gault, Judith; Hu, Ling-Jia; Cohrs, Randall J.; Phang, Tzulip; Hunter, Lawrence; Breeze, Robert E.; Awad, Issam A.

    2009-01-01

    OBJECTIVE We sought to identify genes with differential expression in cerebral cavernous malformations (CCMs), arteriovenous malformations (AVMs), and control superficial temporal arteries (STAs) and to confirm differential expression of genes previously implicated in the pathobiology of these lesions. METHODS Total ribonucleic acid was isolated from four CCM, four AVM, and three STA surgical specimens and used to quantify lesion-specific messenger ribonucleic acid expression levels on human gene arrays. Data were analyzed with the use of two separate methodologies: gene discovery and confirmation analysis. RESULTS The gene discovery method identified 42 genes that were significantly up-regulated and 36 genes that were significantly down-regulated in CCMs as compared with AVMs and STAs (P = 0.006). Similarly, 48 genes were significantly up-regulated and 59 genes were significantly down-regulated in AVMs as compared with CCMs and STAs (P = 0.006). The confirmation analysis showed significant differential expression (P < 0.05) in 11 of 15 genes (angiogenesis factors, receptors, and structural proteins) that previously had been reported to be expressed differentially in CCMs and AVMs in immunohistochemical analysis. CONCLUSION We identify numerous genes that are differentially expressed in CCMs and AVMs and correlate expression with the immunohistochemistry of genes implicated in cerebrovascular malformations. In future efforts, we will aim to confirm candidate genes specifically related to the pathobiology of cerebrovascular malformations and determine their biological systems and mechanistic relevance. PMID:12535382

  2. Interventional treatment of pulmonary arteriovenous malformations

    PubMed Central

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT. PMID:21160695

  3. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  4. Strangely dispersed minimal sets in the quasiperiodically forced Arnold circle map

    NASA Astrophysics Data System (ADS)

    Glendinning, P. A.; Jäger, T.; Stark, J.

    2009-04-01

    We study quasiperiodically forced circle endomorphisms, homotopic to the identity, and show that under suitable conditions these exhibit uncountably many minimal sets with a complicated structure, to which we refer to as 'strangely dispersed'. Along the way, we generalize some well-known results about circle endomorphisms to the uniquely ergodically forced case. Namely, all rotation numbers in the rotation interval of a uniquely ergodically forced circle endomorphism are realized on minimal sets, and if the rotation interval has a non-empty interior then the topological entropy is strictly positive. The results apply in particular to the quasiperiodically forced Arnold circle map, which serves as a paradigm example.

  5. Arnold tongues and the Devil's Staircase in a discrete-time Hindmarsh-Rose neuron model

    NASA Astrophysics Data System (ADS)

    Felicio, Carolini C.; Rech, Paulo C.

    2015-11-01

    We investigate a three-dimensional discrete-time dynamical system, described by a three-dimensional map derived from a continuous-time Hindmarsh-Rose neuron model by the forward Euler method. For a fixed integration step size, we report a two-dimensional parameter-space for this system, where periodic structures, the so-called Arnold tongues, can be seen with periods organized in a Farey tree sequence. We also report possible modifications in this parameter-space, as a function of the integration step size.

  6. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-01-01

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered. PMID:26399846

  7. Budd-Chiari syndrome, a rare complication of multicentric Castleman disease: A case report

    PubMed Central

    SONG, KUI; LI, MIN

    2015-01-01

    A 39-year-old female presented to The First Affiliated Hospital of Jishou University (Jishou, Hunan) with a fever of unknown origin and progressive abdominal distension. Physical examination revealed generalized lymphadenopathy, multiple non-tender cutaneous nodules, hepatomegaly, splenomegaly and abdominal edema. An axillary lymph node biopsy indicated hyaline vascular type Castleman disease, and color Doppler and computed tomography scans suggested Budd-Chiari syndrome (BCS). Based on the abdominal distension and impairments of the liver and kidneys, an inferior vena cavography and balloon dilatation were performed, confirming the diagnosis of BCS and leading to symptomatic improvement. The patient commenced a combination chemotherapy regimen of cyclophosphamide (0.4 g; days 1–3), vindesine (4 mg; day 1) and prednisolone (100 mg; days 1–5), with no melioration of symptoms. Theprubicin was added to suppress the aggravation of the disease on day six of the chemotherapy cycle. The patient exhibited symptomatic remission for one week, however, she subsequently succumbed to intracranial hemorrhage and infections of the lung and intestine due to long-term myelosuppression following chemotherapy. To the best of our knowledge, this is the first report of BCS in a patient with multicentric Castleman disease without human immunodeficiency virus infection. PMID:26137030

  8. Pseudomeningocele formation following chiari decompression: 19-year retrospective review of predisposing and prognostic factors

    PubMed Central

    Menger, R.; Connor, D.E.; Hefner, M.; Caldito, G.; Nanda, A.

    2015-01-01

    Background: Pseudomeningocele is a known operative complication of Chiari decompression with significant morbidity. Methods: A retrospective analysis of 150 consecutive patients from November 1991 to June 2011 was conducted. Symptomatic pseudomeningocele was defined clinically; to meet definition it must have required operative intervention. Variables evaluated included sex, age, use of graft, and use of operative sealant. The Chi-square, Fisher test, and the two-sample t-test were used as appropriate to determine significance. Multiple logistic regression was used to determine independent risk factors for complication. Results: A total of 67.3% of patients were female, with average age being 39.7 years. A total of 67.3% of patients had a graft placed with the most common being fascia lata. Only nine patients (6%) presented with pseudomeningocele. Factors observed to be significantly associated with pseudomeningocele development were age and use of sealant. Age and sealant use were also independent risk factors for complication. Adjusted for the significant effect of age, odds for complication among patients with sealant usage were 6.67 times those for patients without sealant. Adjusted for the significance of sealant usage, there is a 6% increase in odds for complication for every year increase in patient's age. Conclusions: A statistically significant relationship exists between age and sealant use and the risk of developing a postoperative pseudomeningocele. Emphasis and attention must be placed on meticulous closure technique. This information can aide in preoperative planning and patient selection. PMID:25984384

  9. A case of Budd-Chiari syndrome with Behcet's disease and oral contraceptive usage.

    PubMed

    Akba?, Türkay; Imeryüz, Ne?e; Bayalan, Fatih; Baltacio?lu, Feyyaz; Atagündüz, Pamir; Mülazimo?lu, Lütfiye; Direskeneli, Haner

    2007-11-01

    We present a case of Budd-Chiari syndrome (BCS) having two risk factors, Behcet's disease (BD) and oral contraceptive (OC) usage. A 33-year-old woman with BD was admitted to the Emergency Unit with nausea, vomiting, abdominal pain, abdominal distention, and confusion started 12 days ago before admission. Since the patient was in a shock state, she was taken to the Intensive Care Unit (ICU) with the suspicion of abdomen-originated sepsis. Abdominal ultrasound showed massive hepatosplenomegaly and moderate ascites. Abdominal MRI revealed an inferior vena cava (IVC) obstruction starting above the renal veins and diffuse thrombosis of the right and medial hepatic veins. An extensive thrombosis of the IVC and the hepatic veins (BCS) which led to shock was diagnosed. In addition to BD, the unnotified OC usage for a year by the patient without her doctor's knowledge was recognized as possible precipitating factor of BCS. Pulse methylprenisolone was started for three consecutive days to treat active BD-induced vasculitis. IVC digital subtraction angiography (DSA) showed occlusion of the IVC below the hepatic veins with extensive collateral circulation originating at the occlusion level suggesting that obliteration had a subacute or chronic course. Since intralesional thrombolytic therapy failed, the patient was transferred to a liver transplantation center. While waiting for an appropriate donor, the patient died due to hepatic failure. Since BCS is mortal and deemed multi-factorial, every patient with a thrombotic risk factor such as BD should be questioned for other possible causes of thrombosis. PMID:17576562

  10. Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China

    PubMed Central

    Zhang, Peijin; Zhang, Yanyan; Zhang, Jing; Wang, Hui; Ma, He; Wang, Wei; Gao, Xiuyin; Xu, Hao; Lu, Zhaojun

    2015-01-01

    Myeloproliferative neoplasms (MPNs) are the leading cause of Budd-Chiari syndrome (BCS), and the C allele of JAK2 rs4495487 was reported to be an additional candidate locus that contributed to MPNs. In the present study, we examined the role of JAK2 rs4495487 in the etiology and clinical presentation of Chinese BCS patients. 300 primary BCS patients and 311 healthy controls were enrolled to evaluate the association between JAK2 rs4495487 polymorphism and risk of BCS. All subjects were detected for JAK2 rs4495487 by real-time PCR. Results. The JAK2 rs4495487 polymorphism was associated with JAK2 V617F-positive BCS patients compared with controls (P < 0.01). The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04–90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07–69.52). We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31–15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. Further larger studies are required to confirm these findings. PMID:26557140

  11. Genetic animal models of malformations of cortical development and epilepsy.

    PubMed

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  12. Budd-Chiari Syndrome in a Patient with JAK-2 V617F and Factor V G1691A Mutations

    PubMed Central

    Velarde-Félix, JS; Sanchez-Zazueta, J; Gonzalez-Ibarra, FP; González-Valdez, JA; Salcido-Gómez, B; Gallardo-Angulo, E; Murillo-Llanes, J

    2014-01-01

    ABSTRACT Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS). The current classification of MPN by the World Health Organization is based on the presence of JAK-2 V617F somatic mutation, which is present in 40 to 60% of patients with BCS. Factor V Leiden mutation is found in around 53% of patients with BCS, representing the most common prothrombotic disease associated with the disorder. We describe a 48-year old woman with a past medical history of deep venous thrombosis in the left upper extremity and one episode in both lower extremities, one episode of transient ischaemic attack and essential thrombocythemia, who presented with jaundice, ascites and hepatomegaly. Budd-Chiari syndrome was diagnosed based on findings on Doppler ultrasound and liver biopsy. Doppler ultrasound showed narrowness of hepatic veins and inferior vena cava in its hepatic portion, diffuse echotexture and portal hypertension. Liver biopsy showed congestion of sinusoids and portal fibrosis. The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-specific polymerase chain reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutation PMID:25781296

  13. Budd-Chiari Syndrome in a Patient with JAK-2 V617F and Factor V G1691A Mutations.

    PubMed

    Velarde-Félix, J S; Sanchez-Zazueta, J; Gonzalez-Ibarra, F P; González-Valdez, J A; Salcido-Gómez, B; Gallardo-Angulo, E; Murillo-Llanes, J

    2014-09-01

    Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS). The current classification of MPN by the World Health Organization is based on the presence of JAK-2 V617F somatic mutation, which is present in 40 to 60% of patients with BCS. Factor V Leiden mutation is found in around 53% of patients with BCS, representing the most common prothrombotic disease associated with the disorder. We describe a 48-year old woman with a past medical history of deep venous thrombosis in the left upper extremity and one episode in both lower extremities, one episode of transient ischaemic attack and essential thrombocythemia, who presented with jaundice, ascites and hepatomegaly. Budd-Chiari syndrome was diagnosed based on findings on Doppler ultrasound and liver biopsy. Doppler ultrasound showed narrowness of hepatic veins and inferior vena cava in its hepatic portion, diffuse echotexture and portal hypertension. Liver biopsy showed congestion of sinusoids and portal fibrosis. The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-speci?c polymerase chain reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutation. PMID:25781296

  14. The Quantum Arnold Transformation for the damped harmonic oscillator: from the Caldirola-Kanai model toward the Bateman model

    NASA Astrophysics Data System (ADS)

    López-Ruiz, F. F.; Guerrero, J.; Aldaya, V.; Cossío, F.

    2012-08-01

    Using a quantum version of the Arnold transformation of classical mechanics, all quantum dynamical systems whose classical equations of motion are non-homogeneous linear second-order ordinary differential equations (LSODE), including systems with friction linear in velocity such as the damped harmonic oscillator, can be related to the quantum free-particle dynamical system. This implies that symmetries and simple computations in the free particle can be exported to the LSODE-system. The quantum Arnold transformation is given explicitly for the damped harmonic oscillator, and an algebraic connection between the Caldirola-Kanai model for the damped harmonic oscillator and the Bateman system will be sketched out.

  15. A Chaotic Cryptosystem for Images Based on Henon and Arnold Cat Map

    PubMed Central

    Sundararajan, Elankovan

    2014-01-01

    The rapid evolution of imaging and communication technologies has transformed images into a widespread data type. Different types of data, such as personal medical information, official correspondence, or governmental and military documents, are saved and transmitted in the form of images over public networks. Hence, a fast and secure cryptosystem is needed for high-resolution images. In this paper, a novel encryption scheme is presented for securing images based on Arnold cat and Henon chaotic maps. The scheme uses Arnold cat map for bit- and pixel-level permutations on plain and secret images, while Henon map creates secret images and specific parameters for the permutations. Both the encryption and decryption processes are explained, formulated, and graphically presented. The results of security analysis of five different images demonstrate the strength of the proposed cryptosystem against statistical, brute force and differential attacks. The evaluated running time for both encryption and decryption processes guarantee that the cryptosystem can work effectively in real-time applications. PMID:25258724

  16. A chaotic cryptosystem for images based on Henon and Arnold cat map.

    PubMed

    Soleymani, Ali; Nordin, Md Jan; Sundararajan, Elankovan

    2014-01-01

    The rapid evolution of imaging and communication technologies has transformed images into a widespread data type. Different types of data, such as personal medical information, official correspondence, or governmental and military documents, are saved and transmitted in the form of images over public networks. Hence, a fast and secure cryptosystem is needed for high-resolution images. In this paper, a novel encryption scheme is presented for securing images based on Arnold cat and Henon chaotic maps. The scheme uses Arnold cat map for bit- and pixel-level permutations on plain and secret images, while Henon map creates secret images and specific parameters for the permutations. Both the encryption and decryption processes are explained, formulated, and graphically presented. The results of security analysis of five different images demonstrate the strength of the proposed cryptosystem against statistical, brute force and differential attacks. The evaluated running time for both encryption and decryption processes guarantee that the cryptosystem can work effectively in real-time applications. PMID:25258724

  17. Arnold's cat map dynamics in a system of coupled nonautonomous van der Pol oscillators

    NASA Astrophysics Data System (ADS)

    Isaeva, Olga B.; Jalnine, Alexey Yu.; Kuznetsov, Sergey P.

    2006-10-01

    An example of a flow system is presented with an attractor concentrated mostly at a surface of a two-dimensional torus, the dynamics on which is governed by the Arnold cat map. The system is composed of four coupled nonautonomous van der Pol oscillators. Three of them have equal characteristic frequencies, and in the other one the frequency is twice as large. The parameters controlling excitation of the two pairs of oscillators are forced to undergo a slow counterphase periodic modulation in time. At the end of the active stage for one pair of the oscillators, the excitation is passed to another pair, than back, and so on. In terms of a stroboscopic Poincaré section, the respective eight-dimensional (8D) mapping, due to strong phase volume compression, reduces approximately to a 2D map for the phases of one pair of the oscillators that corresponds approximately to the Arnold cat map. The largest two Lyapunov exponents (one positive and one negative) are close to those predicted with the cat map model. Estimates for the fractal dimension of the attractor of the Poincaré map are close to 2.

  18. [Budd-Chiari syndrome, pulmonary thromboembolism, and deep venous thrombosis associated with "lupus anticoagulant" and recent use of oral contraceptives].

    PubMed

    Bacci, S; Urquiola, G; del Médico, P; Sanabria, J A; Bacci, J C; Guzmán, M; Poleo, J R

    1990-01-01

    The Budd-Chiari syndrome is the clinical manifestation of the total or partial obstruction of the hepatic veins and/or inferior vena cava. It is an infrequent cause of portal hypertension. The chronic presentation is the most frequent and is characterized by right upper quadrant pain, hepatomegaly, and ascites of slow onset. We report a case of a 26 year old woman affected by this disorder associated to a recent use of oral contraceptive and a "Lupus Anticoagulant". She subsequently developed deep venous thrombosis and pulmonary embolism. She died almost 6 years after the onset of symptoms. PMID:2152314

  19. Neuropathology of cerebral arteriovenous malformations in children.

    PubMed Central

    Takashima, S; Becker, L E

    1980-01-01

    Neuropathological findings in children who had died of cerebral arteriovenous malformation under 6 years of age were contrasted with those of children aged 6 to 15 years. In all subjects, the abnormalities were more marked in the shunting vessels and veins distal to the arteriovenous shunt than in the arteries. Fibrous thickening, calcification an adherent thrombus of vessel wall, and gliosis and haemosiderin in contiguous neural tissue were more common in the older than the younger children. Children less than 1 week old with vein of Galen malformations presented with congestive heart failure and "watershed" cerebral infarction; most of those over one week old had hydrocephalus and venous thrombosis with haemorrhagic infarction. Images PMID:7420086

  20. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. © 2015 Wiley Periodicals, Inc. PMID:26697951

  1. Arteriovenous malformation of the uterine cervix.

    PubMed

    Val-Bernal, José-Fernando; Hermana, Sandra

    2016-03-01

    A uterine arteriovenous malformation (AVM) is an uncommon cause of uterine bleeding. Location of this lesion in the uterine cervix is exceptional. We report a case of a 34-year-old woman who presented with chronic menorrhagias and hypochromic anemia. A sonographic study revealed a 10-cm, fundal, intramural, uterine well-circumscribed mass that distorted the endometrial cavity. The patient underwent hysterectomy for a large uterine leiomyoma. The pathological study revealed an incidental AVM of the posterior half of the cervix measuring 5.5cm in major diameter. We suggest that in our case cervical AVM might have occurred due to a large corporal leiomyoma distorting the uterine circulation. Differential diagnosis includes capillary hemangioma, venous malformation, or arteriovenous fistula. PMID:26810780

  2. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  3. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886?996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  4. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

    The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution. PMID:22826821

  5. Ocular Malformations with Presumable Intraocular Calcification.

    PubMed

    Tengtrisorn, Supaporn; Vichitvejpaisal, Pornpattana; Nitirungjaras, Anupong; Kritsaneepaiboon, Supika; Kiddee, Weerawat; Singha, Penny

    2015-07-01

    This is a case of ocular malformations with presumable intraocular calcification based on computed tomography (CT) imaging, magnetic resonance imaging (MRI) and ocular ultrasound (US) findings. The authors presented the clinical, imaging and pathological findings of this case. Intraocular calcification is the most important finding in retinoblastoma, which requires aggressive management. It is important to distinguish it from other intraocular lesions, especially intraocular calcified hematoma. PMID:26267997

  6. Moeglichkeiten einer didaktischen Erschliessung von Arnold Weskers Trilogie fuer den Unterricht in der gymnasialen Oberstufe (Possibilities for a Didactic Analysis of Arnold Wesker's Trilogy for Teaching in the Top Level of the Gymnasium)

    ERIC Educational Resources Information Center

    Lindemann, Valeska

    1974-01-01

    This investigation attempts a didactic analysis of Arnold Wesker's Trilogy for teaching in the 12th or 13th grade of a Modern Language Gymnasium. Here the main emphasis is said to bear on an anlysis of the relation of language and structure of the Trilogy to Wesker's conception of history as revealed in this work, as well as upon an analysis of…

  7. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  8. Giant Arteriovenous Malformation of the Neck

    PubMed Central

    Dieng, P. A.; Ba, P. S.; Gaye, M.; Diatta, S.; Diop, M. S.; Sene, E.; Ciss, A. G.; Ndiaye, A.; Ndiaye, M.

    2015-01-01

    Arteriovenous malformations (AVM) have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region. The AVM was developed between the carotid arteries, jugular veins, and vertebral and subclavian vessels, with arterial and venous flux. The patient underwent surgery twice for the cure of that AVM. The first step was the ligation of the external carotid. Seven days later, the excision of the mass was done. In postoperative period the patient presented a peripheral facial paralysis which completely decreased within 10 days. The first ligation of the external carotid reduces significantly the blood flow into the AVM. It permitted secondarily the complete ablation of the AVM without major bleeding even though multiple ligations were done. PMID:26347847

  9. Simple risk predictions for arteriovenous malformation hemorrhage.

    PubMed

    Kondziolka, D; McLaughlin, M R; Kestle, J R

    1995-11-01

    We present a simple risk prediction formula for arteriovenous malformation hemorrhage. Natural history studies have shown an annual risk of hemorrhage of 2 to 4% for patients with brain arteriovenous malformations. Although decision analysis programs and biostatistical models are available to predict long-term risks of hemorrhage, we hypothesized that there was varying knowledge regarding the use of such programs within the general neurosurgical community. To obtain information on the current use of risk data, we performed a survey of neurosurgeons at national meetings in 1988 and 1994. Neurosurgeons were asked to define the risk for arteriovenous malformation hemorrhage in the young adult patient over a 20- to 30-year period, given a 3 or 4% annual risk of hemorrhage. A wide range of answers was obtained (1-100% risk), and many different methods of calculation were used. The use of the multiplicative law of probability formula requires only knowledge of patient age and annual hemorrhage risk. Risk of hemorrhage = 1 - (risk of no hemorrhage) expected years of remaining life. The assumptions pertaining to this multiplicative formula include a constant yearly risk of hemorrhage and the independent behavior of all years of observation. We calculated the predictions of risk of hemorrhage across all age groups, as modified by published survival data. We think the use of this formula is justified by published natural history data across different ages and populations and that it is a simple and reasonable alternative to other methods of calculation. PMID:8559331

  10. The atrioventricular junctions in Ebstein malformation

    PubMed Central

    Ho, S; Goltz, D; McCarthy, K; Cook, A; Connell, M; Smith, A; Anderson, R

    2000-01-01

    OBJECTIVE—To review the anatomical structure of the right atrioventricular junction, including the specialised atrioventricular conduction system, in hearts with Ebstein's malformation, to identify potential substrates for the abnormalities in conduction.?METHODS—Five heart specimens representing the morphological spectrum of Ebstein malformation were examined grossly and histologically.?RESULTS—On the endocardial surface, the atrioventricular junction was marked by a faint line in two hearts, and by a small ridge in the other three. Analysis of the right parietal junction in four hearts revealed only two accessory muscular atrioventricular connections. A plane of fibrofatty tissue separated atrial from ventricular myocardium in the right parietal junction in all hearts. The compact atrioventricular node was closer to the coronary sinus than usual. Accessory nodoventricular connections were present in four hearts, while accessory fasciculo-ventricular connections were found in one. The right bundle branch was hypoplastic or absent in four hearts.?CONCLUSIONS—In this small series, the parietal atrioventricular junction was better developed than previously thought. Structural abnormalities of the atrioventricular conduction system, however, were present. These may account for some of the conduction abnormalities frequently observed with the Ebstein malformation.???Keywords: Ebstein's anomaly; atrioventricular node; bundle branch block; Wolff-Parkinson-White syndrome PMID:10722549

  11. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth diseases that have different morbidities and treatments. PMID:27014547

  12. Computed tomography angiography manifestations of collateral circulations in Budd-Chiari syndrome

    PubMed Central

    CAI, SHI-FENG; GAI, YONG-HAO; LIU, QING-WEI

    2015-01-01

    The aim of this study was to assess the computed tomography angiography (CTA) manifestations of collateral circulations in patients with Budd-Chiari syndrome (BCS). Eighty patients with BCS were examined by CT scan. Using the CTA images of the relevant blood vessels, including the affected hepatic veins (HVs) and inferior venae cavae (IVCs), the collateral circulations were reconstructed. In addition to obstructed HVs and IVCs, collateral circulations were found in each of the patients. The collateral circulations were classified as intrahepatic, extrahepatic and portosystemic pathways. Intrahepatic collateral pathways were further classified as the following six types: HV-accessory HV (n=51, 63.8%), HV-HV (n=6, 7.5%), HV-accessory HV plus HV (n=6, 7.5%), IVC-HV/accessory HV-HV-right atrium (n=5, 6.3%), HV-umbilical vein (n=4, 5.0%) and HV-inferior phrenic vein (n=8, 10.0%). Extrahepatic collateral pathways included IVC-lumbar-ascending lumbar-hemiazygos/azygos vein (n=80, 100.0%), IVC-left renal-ascending lumbar-hemiazygos vein (n=75, 93.8%), IVC-left renal-inferior phrenic vein (n=49, 61.3%), IVC-renal -peri-renal -superficial epigastric vein (n=26, 32.5%) and superficial epigastric vein (n=12, 15.0%) types. The CTA characteristics of each type of collateral circulation were demonstrated. In conclusion, the present study revealed that CTA is able to show the intra- and extrahepatic collateral circulations of patients with BCS, which may be useful for therapeutic planning. PMID:25574205

  13. Confessions of a Would-Be Non-Provincial--Or, the English Teacher and Matthew Arnold's Ghost.

    ERIC Educational Resources Information Center

    Walling, W.

    Although Matthew Arnold may appear to be the representative of an increasingly irrelevant elitist vision by advocating a culture ultimately dependent on the exclusion of all but the very best in thought and expression, in fact he remains the writer who reminds us of the necessity for a social vision of ourselves superior to any mere provincialism.…

  14. Evaluation and management of peripheral venous and lymphatic malformations.

    PubMed

    Nassiri, Naiem; Thomas, Jones; Cirillo-Penn, Nolan C

    2016-04-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies as vascular tumors or vascular malformations. The latter are congenital lesions that are further categorized by their flow properties and include high-flow arteriovenous malformations, slow-flow venous and lymphatic malformations, and congenital mixed syndromes, which can include a combination of malformations. Unlike vascular tumors, vascular malformations never regress and can persist and grow for the duration of the patient's lifespan. As our understanding of the natural history, hemodynamics, and treatment outcomes of these lesions has expanded and evolved over the last few decades, certain fundamental diagnostic and therapeutic principles have been established and are considered standard of care. These overarching principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded on in this report, which focuses exclusively on peripheral slow-flow venous and lymphatic malformations. PMID:26993876

  15. [Maternal age as a risk factor for congenital malformations].

    PubMed

    Nazer, J; Cifuentes, L; Ruiz, G; Pizarro, M T

    1994-03-01

    We studied 131,899 consecutive births at the Maternity of the University of Chile Clinical Hospital, finding 4887 newborns with congenital malformations (representing a rate of 37.05 per 1000 alive newborns). Between January 1982 and December 1992 there were 41,344 births and 295 stillbirths (0.7%). Among the latter, 41 were malformed (13.9%). A graphic comparing the mean annual rates of malformations and maternal ages, shows a sustained increase in malformations form 1972 to 1988, that decreases thereafter and stabilizes since 1982. There is a marked parallelism between the curves of malformation rates and maternal age (t21 = 1.057, p < 0.1). It is concluded that the risk of congenital malformations increases along with maternal ages. PMID:7809519

  16. 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 appropriate for arterio-venous malformations. Incurable findings are still a major challenge. Despite the introduction of antiangiogenetic drugs in oncology, the medicamentous therapeutic approach could not be established for arterio-venous malformations up to now. PMID:25587362

  17. Multiple color images encryption by triplets recombination combining the phase retrieval technique and Arnold transform

    NASA Astrophysics Data System (ADS)

    Shi, Xiaoyan; Zhao, Daomu; Huang, Yinbo; Pan, Jianjiang

    2013-10-01

    We propose a new method for multiple color images encryption by using triplets recombination. In this proposed technique, triplet (R, G and B) components of the secret color image are recorded simultaneously as a real and positive gray image exploiting parallel multi-wavelength recording technology. Arnold transform and phase retrieval algorithm adapted to Fresnel transform domain are used to encode the parallel hybrid result. By using of the proposed technique, each color image is encrypted into a pure phase distribution and combined by superposition. Phase modulation is introduced to eliminate the cross-talk caused by multiple images superposition. The wavelength and transform parameters are provided as keys to enhance the system security. In addition, computer simulations are performed and numerical results are presented to show the validity and efficiency of the proposed method.

  18. Numerical and experimental observation of Arnol'd resonance webs in an electrical circuit

    NASA Astrophysics Data System (ADS)

    Inaba, Naohiko; Kamiyama, Kyohei; Kousaka, Takuji; Endo, Tetsuro

    2015-09-01

    An extensive bifurcation analysis of partial and complete synchronizations of three-frequency quasi-periodic oscillations generated in an electric circuit is presented. Our model uses two-coupled hysteresis oscillators and a rectangular wave forcing term. The governing equation of the circuit is represented by a piecewise-constant dynamics generating a three-dimensional torus. The Lyapunov exponents are precisely calculated using explicit solutions without numerically solving any implicit equation. By analyzing this extremely simple circuit, we clearly demonstrate that it generates an extremely complex bifurcation structure called Arnol'd resonance web. Inevitably, chaos is observed in the neighborhood of Chenciner bubbles around which regions generating three-dimensional tori emanate. Furthermore, the numerical results are experimentally verified.

  19. Weak chaos in the disordered nonlinear Schroedinger chain: Destruction of Anderson localization by Arnold diffusion

    SciTech Connect

    Basko, D.M.

    2011-07-15

    Research Highlights: > In a one-dimensional disordered chain of oscillators all normal modes are localized. > Nonlinearity leads to chaotic dynamics. > Chaos is concentrated on rare chaotic spots. > Chaotic spots drive energy exchange between oscillators. > Macroscopic transport coefficients are obtained. - Abstract: The subject of this study is the long-time equilibration dynamics of a strongly disordered one-dimensional chain of coupled weakly anharmonic classical oscillators. It is shown that chaos in this system has a very particular spatial structure: it can be viewed as a dilute gas of chaotic spots. Each chaotic spot corresponds to a stochastic pump which drives the Arnold diffusion of the oscillators surrounding it, thus leading to their relaxation and thermalization. The most important mechanism of equilibration at long distances is provided by random migration of the chaotic spots along the chain, which bears analogy with variable-range hopping of electrons in strongly disordered solids. The corresponding macroscopic transport equations are obtained.

  20. Future aerospace ground test facility requirements for the Arnold Engineering Development Center

    NASA Technical Reports Server (NTRS)

    Kirchner, Mark E.; Baron, Judson R.; Bogdonoff, Seymour M.; Carter, Donald I.; Couch, Lana M.; Fanning, Arthur E.; Heiser, William H.; Koff, Bernard L.; Melnik, Robert E.; Mercer, Stephen C.

    1992-01-01

    Arnold Engineering Development Center (AEDC) was conceived at the close of World War II, when major new developments in flight technology were presaged by new aerodynamic and propulsion concepts. During the past 40 years, AEDC has played a significant part in the development of many aerospace systems. The original plans were extended through the years by some additional facilities, particularly in the area of propulsion testing. AEDC now has undertaken development of a master plan in an attempt to project requirements and to plan for ground test and computational facilities over the coming 20 to 30 years. This report was prepared in response to an AEDC request that the National Research Council (NRC) assemble a committee to prepare guidance for planning and modernizing AEDC facilities for the development and testing of future classes of aerospace systems as envisaged by the U.S. Air Force.

  1. Families made by science. Arnold Gesell and the technologies of modern child adoption.

    PubMed

    Herman, E

    2001-12-01

    This essay considers the effort to transform child adoption into a modern scientific enterprise during the first half of the twentieth century via a case study of Arnold Gesell (1880-1961), a Yale developmentalist well known for his studies of child growth and the applied technologies that emerged from them: normative scales promising to measure and predict development. Scientific adoption was a central aspiration for many human scientists, helping professionals, and state regulators. They aimed to reduce the numerous hazards presumed to be inherent in adopting children, especially infants, who were not one's "own." By importing insights and techniques drawn from the world of science into the practical world of family formation, scientific adoption stood for kinship by design. This case study explores one point of intersection between the history of science and the history of social welfare and social policy, simultaneously illustrating the cultural progress and power of scientific authority and the numerous obstacles to its practical realization. PMID:11921680

  2. Arnold Engineering Development Center - budget cuts increase importance of SDI systems test capability

    SciTech Connect

    Not Available

    1986-07-01

    The same Federal budget cuts which are constraining in-space testing of SDI components and systems are slowing the development of environmental facilities to simulate space conditions for testing the components on earth. At Arnold Engineering Development Center (AEDC), an attempt is being made to obtain funds for construction of facilities as national assets, rather than as military appropriations. AEDC is involved in studies of plume signature measurement, vacuum chamber testing, kinetic energy projectile testing, high endoatmospheric interceptor development, and toxic propellant facility support. Some development is devoted to scene-generation capabilities, large optics for collimating signals and the isolation of vacuum chambers from vibration, as well as efforts to produce numerical simulations for computational fluid dynamics and complex geometries. Tests are proceeding on components to be projected with a rail gun operated in corrosive environments.

  3. 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

  4. Occlusive vascular disease associated with cerebral arteriovenous malformations

    SciTech Connect

    Mawad, M.E.; Hilal, S.K.; Michelsen, W.J.; Stein, B.; Ganti, S.R.

    1984-11-01

    Selective carotid angiography and computed tomography were used in a study of the association of occlusive vascular disease with cerebral arteriovenous malformations in 13 patients. The majority of the arterial occlusions were proximal to the vascular malformation. Some, however, extended distal to the major branch supplying the arteriovenous malformation (AVM). Selective angiography with subtraction techniques defines the distinct angioarchitecture of these AVMs and the associated stenoses and collateral telangiectases.

  5. Large amplification in stage-structured models: Arnol'd tongues revisited.

    PubMed

    Greenman, J V; Benton, T G

    2004-06-01

    The coexistence of periodic and point attractors has been confirmed for a range of stage-structured discrete time models. The periodic attractor cycles have large amplitude, with the populations cycling between extremely low and surprisingly high values when compared to the equilibrium level. In this situation a stable state can be shocked by noise of sufficient strength into a state of high volatility. We found that the source of these large amplitude cycles are Arnol'd tongues, special regions of parameter space where the system exhibits periodic behaviour. Most of these tongues lie entirely in that part of parameter space where the system is unstable, but there are exceptions and these exceptions are the tongues that lead to attractor coexistence. Similarity in the geometry of Arnol'd tongues over the range of models considered might suggest that this is a common feature of stage-structured models but in the absence of proof this can only be a useful working hypothesis. The analysis shows that although large amplitude cycles might exist mathematically they might not be accessible biologically if biological constraints, such as non-negativity of population densities and vital rates, are imposed. Accessibility is found to be highly sensitive to model structure even though the mathematical structure is not. This highlights the danger of drawing biological conclusions from particular models. Having a comprehensive view of the different mechanisms by which periodic states can arise in families of discrete time models is important in the debate on whether the causes of periodicity in particular ecological systems are intrinsic, environmental or trophic. This paper is a contribution to that continuing debate. PMID:15164227

  6. Retained Microcatheter after Onyx Embolization of Intracranial Arteriovenous Malformation

    PubMed Central

    Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong

    2012-01-01

    Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969

  7. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  8. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation. PMID:26578979

  9. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

    Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

    2014-01-01

    BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ?200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. RESULTS Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. CONCLUSIONS Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.) PMID:25140959

  10. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation. PMID:26578979

  11. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

    Leblanc, Gabrielle G.; Golanov, Eugene; Awad, Issam A.; Young, William L.

    2009-01-01

    Background and Purpose This review discusses recent research on the genetic, molecular, cellular, and developmental mechanisms underlying the etiology of vascular malformations of the brain (VMBs), including cerebral cavernous malformation (CCM), sporadic brain arteriovenous malformation (AVM), and the AVMs of hereditary hemorrhagic telangiectasia (HHT). Summary of Review The identification of gene mutations and genetic risk factors associated with CCM, HHT, and sporadic AVM has enabled the development of animal models for these diseases and provided new insights into their etiology. All of the genes associated with VMBs to date have known or plausible roles in angiogenesis and vascular remodeling. Recent work suggests that the angiogenic process most severely disrupted by VMB gene mutation is that of vascular stabilization, the process whereby vascular endothelial cells form capillary tubes, strengthen their intercellular junctions, and recruit smooth muscle cells to the vessel wall. In addition, there is now good evidence that in some cases CCM lesion formation involves a genetic two-hit mechanism, in which a germline mutation in one copy of a CCM gene is followed by a somatic mutation in the other copy. There is also increasing evidence that environmental second hits can produce lesions when there is a mutation to a single allele of a VMB gene. Conclusions Recent findings begin to explain how mutations in VMB genes render vessels vulnerable to rupture when challenged with other inauspicious genetic or environmental factors, and have suggested candidate therapeutics. Understanding of the cellular mechanisms of VMB formation and progression in humans has lagged behind that in animal models. New knowledge of lesion biology will spur new translational work. Several well-established clinical and genetic database efforts are already in place, and further progress will be facilitated by collaborative expansion and standardization of these. PMID:19834013

  12. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

    PubMed Central

    Eerola, Iiro; Boon, Laurence M.; Mulliken, John B.; Burrows, Patricia E.; Dompmartin, Anne; Watanabe, Shoji; Vanwijck, Romain; Vikkula, Miikka

    2003-01-01

    Capillary malformation (CM), or “port-wine stain,” is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations “CM-AVM,” for capillary malformation–arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. PMID:14639529

  13. The value of England and Wales congenital malformation notification scheme data for epidemiology: male genital tract malformations.

    PubMed Central

    Swerdlow, A J; Melzer, D

    1988-01-01

    Data from the England and Wales national congenital malformation notification scheme were examined for associations of male genital tract malformations. For some of the malformations comparison of notification rates with the literature suggested gross undernotification. There was also evidence suggesting bias: examination of the relationships of the malformations to birth weight, maternal parity, and maternal age at delivery showed some highly significant trends in risk, most of which were at variance with findings in the literature, and several potential mechanisms for bias could be adduced. Direct investigation is needed, for this and other similar data sets, of the extent and mechanisms of biased undernotification. PMID:2901455

  14. Intrapulmonary arteriovenous malformation causing recurrent strokes

    PubMed Central

    Abed, Kareem; Premachandra, Lalith; Vankawala, Viren; Sun, Qi

    2015-01-01

    This case reveals a left pulmonary arteriovenous malformation (PAVM) as a cause of recurrent cerebral and cerebellar emboli. Extensive workup excluded other etiologies of emboli formation, and the patient was transferred to a tertiary care center for percutaneous embolotherapy. In the absence of a clear etiology, PAVM should be considered as a potential cause of recurrent cerebral emboli, especially in the absence of carotid disease, intracardiac thrombus, atrial septal defect, and patent foramen ovale. Diagnostic work-up for the PAVM can be cost effective and expedited by utilization of agitated saline contrast echocardiography, as noted in our case. PMID:26486114

  15. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

    Cerebral arteriovenous malformations (AVMs) are complex high-flow lesions that can result in devastating neurological injury when they hemorrhage. Embolization is a critical component in the management of many patients with cerebral AVMs. Embolization may be used as an independent curative therapy or more commonly in an adjuvant fashion prior to either micro- or radiosurgery. Although the treatment-related morbidity and mortality for AVMs—including that due to microsurgery, embolization, and radiosurgery—can be substantial, its natural history offers little solace. Fortunately, care by a multidisciplinary team experienced in the comprehensive management of AVMs can offer excellent results in most cases. PMID:25624978

  16. Smaller platelet volumes associated with vascular malformations.

    PubMed

    Klapman, Marvin H; Sosa, Valentina B; Mattson-Gates, Gail F; Baker, Cynthia N; Sydorak, Roman M; Ong, Victor L; Li, Bonnie H; Yao, Janis F

    2013-06-01

    Various parameters in 91 adult participants with vascular malformations and 91 controls were studied. The mean of the participants' platelet volumes was 8.5 fL and that of their controls was 9.1 (P < .001). The mean of the participants' platelet mass was 2145 µL/L of blood and that of their controls was 2351 (P = .006). The other parameters studied were not significantly different than the controls. It is suggested that the lower platelet volume might be related to a compensatory mechanism to keep the total body platelet mass stable despite the increased vasculature. PMID:22297559

  17. Spinal arteriovenous malformation masquerating zoster sine herpete.

    PubMed

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan; Yang, Jong Yeun

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  18. Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete

    PubMed Central

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  19. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  20. Pediatric aneurysms and vein of Galen malformations

    PubMed Central

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  1. Genetic and Developmental Basis of Cardiovascular Malformations.

    PubMed

    Azhar, Mohamad; Ware, Stephanie M

    2016-03-01

    Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multistep process of morphogenesis that is under genetic regulation. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified infrequently. This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis. PMID:26876120

  2. VEGF induces cardiovascular malformation and embryonic lethality.

    PubMed Central

    Feucht, M.; Christ, B.; Wilting, J.

    1997-01-01

    The essential function of vascular endothelial growth factor (VEGF) in embryonic angiogenesis has clearly been documented in murine embryos with targeted deletions of either VEGF or its receptors. The effects of VEGF in the organogenetic phase of development have not been studied to date. Therefore, we applied 0.7 to 0.9 microgram of VEGF via methylcellulose carriers into the midbrain or onto the right forelimb of 4.5-day-old quail embryos. Another group of embryos was treated with 1 microgram of platelet-derived growth factor and controls were carried out using carriers without any growth factor. VEGF-induced cardiovascular malformations resulted in embryonic lethality. The venous area of the vasculature was dilated in almost all organs. The heart was most seriously affected and showed typical characteristics of insufficiency. VEGF strongly increased endocardial cell proliferation and obviously induced impairment of the growth rates of myocardium and endocardium. The myocardium of the ventricles was extremely thin, and septation defects were observed. As a result of the disturbed outflow, the atria were extremely dilated and thin-walled. The morphology of the hearts was reminiscent of that observed in congenital malformations such as Uhl's and Osler's syndromes. Our results show that expression of VEGF has to be tightly controlled during development. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 PMID:9358767

  3. Management of posterior fossa arteriovenous malformations

    PubMed Central

    Almeida, Joao Paulo; Medina, Roberto; Tamargo, Rafael J.

    2015-01-01

    Background: Posterior fossa arteriovenous malformations (AVMs) are rare vascular lesions, representing 7–15% of all intracranial AVMs. Although less frequent than supratentorial AVMs, they present higher rupture, morbidity, and mortality rates. Microsurgery, radiosurgery, and endovascular neurosurgery are treatment options for obliteration of those lesions. In this paper, we present a critical review of the literature about the management of posterior fossa AVM. Methods: A MEDLINE-based search of articles published between January 1960 and January 2014 was performed. The search terms: “Posterior fossa arteriovenous malformation,” “microsurgery,” “radiosurgery,” and “endovascular” were used to identify the articles. Results: Current data supports the role of microsurgery as the gold standard treatment for cerebellar AVMs. Brainstem AVMs are usually managed with radiotherapy and endovascular therapy; microsurgery is considered in cases of pial brainstem AVMs. Conclusions: Succsseful treatment of posterior fossa AVMs depend on an integrated work of neurosurgeons, radiosurgeons, and endovascular neurosurgery. Although the development of radiosurgery and endovascular techniques is remarkable, microsurgery remains as the gold standard treatment for most of those lesions. PMID:25745586

  4. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  5. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  6. Variations of some elements in cadmium-induced malformed fish

    SciTech Connect

    Muramoto, S.

    1981-08-01

    Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

  7. Successful percutaneous coil occlusion of a large pulmonary arteriovenous malformation.

    PubMed

    Jameel, Al-Ata; Arfi, Amin Muhammed; Ayman, M S; Nasser, Mahdi; Amjad, Kouatli; Iskandar, Al-Githmi

    2004-11-01

    Pulmonary arteriovenous malformation is one of the rarest congenital anomalies of cardiovascular system. We present a case of 30-year-old female with a large pulmonary arteriovenous malformation (PAVM) arising from the right lower pulmonary artery and draining to the left atrium. She underwent successful embolization using three detachable Cook coils. PMID:15530285

  8. Humanizing Democracy: Matthew Arnold's Nineteenth-Century Call for a Common, Higher, Educative Pursuit of Happiness and Its Relevance to Twenty-first Century Democratic Life.

    ERIC Educational Resources Information Center

    Novak, Bruce

    2002-01-01

    Examines a nineteenth century recommendation by Matthew Arnold for democratic educational reform calling for a broadly accessible liberal education to cultivate a magnanimous and civic-minded democratic populace. Discusses how the old vision might become a new blueprint. (SLD)

  9. Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

    PubMed

    Sugiyama, Yukimaru; Kurita, Hiroyuki; Matsui, Takeshi; Kimoto, Satoshi; Egawa, Junko

    2014-01-29

    From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time. PMID:24474604

  10. Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation

    PubMed Central

    Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar

    2013-01-01

    Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk. PMID:24516776

  11. The study of malformations "by the company they keep".

    PubMed Central

    Miller, M T; Strömland, K

    1992-01-01

    Our study of individuals with thalidomide embryopathy reaffirms many of the principles of clinical teratology concerning sensitivity of developing structures and specificity of action. It also highlights important features of ocular teratology that differ from those of other organ systems. Because malformations of the eye and associated structures do not significantly threaten the survival of the embryo, fetus, or neonate, any variation in prevalence in older individuals is not due to the nature of the ocular malformation but may be significantly modified by "the company they keep," the systemic malformations occurring at the same time as the original insult, whether it be an environmental, a genetic, or a local disturbance. Additionally, the presence of clusters of malformations caused by a teratogen at a specific time supports the concept of a common pathogenic mechanism and provides suggested avenues for further research into the cause of these malformations. PMID:1494822

  12. Transvenous Approach to Intracranial Arteriovenous Malformations: Challenging the Axioms of Arteriovenous Malformation Therapy?

    PubMed

    Choudhri, Omar; Ivan, Michael E; Lawton, Michael T

    2015-10-01

    : A compartmental conceptualization of intracranial arteriovenous malformations (AVMs) allows recognition of feeding arteries, an intervening plexiform nidus, and draining veins. AVM therapy involves eliminating the nidus, which is the source of hemorrhage, without compromising normal arterial and venous drainage of the brain. Traditional methods of AVM therapy through microsurgery and endovascular embolization involve arterial devascularization, with preservation of AVM venous drainage, until the nidus is excluded. The transvenous approach in treating vascular malformations was popularized by successful treatment models for dural arteriovenous fistulas. More recently, high-flow intracranial AVMs are being managed with transvenous endovascular approaches, although this novel technique has its challenges and perils. We review the current literature on transvenous AVM therapy and highlight its role for AVM therapy in the present day. PMID:26120797

  13. Malformations and the Manx Syndrome in Cats

    PubMed Central

    DeForest, M. E.; Basrur, P. K.

    1979-01-01

    Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:393376

  14. Microsurgical resection of ambient cistern arteriovenous malformation.

    PubMed

    Choudhri, Omar; Lawton, Michael T

    2016-01-01

    The middle tentorial incisural space, located lateral to the midbrain and medial to the temporal lobe, contains the ambient cistern through which courses the third, fourth, and fifth cranial nerves, posterior cerebral artery (PCA), superior cerebellar artery, and the choroidal arteries. Arteriovenous malformations (AVMs) in this compartment are supplied by the thalamogeniculate and posterior temporal branches of the PCA, and drain into tributaries of the basal vein of Rosenthal. We present a case of an AVM in this middle tentorial incisural space that persisted after embolization and radiosurgery, and was microsurgically resected through a subtemporal approach. This case demonstrates the anatomy of the middle incisural space and technical aspects in microsurgical resection of these rare AVMs. The video can be found here: https://youtu.be/V-dIWh8ys3E . PMID:26722691

  15. CT of thrombosed arteriovenous malformations in children

    SciTech Connect

    Mitnick, J.S.; Pinto, R.S.; Lin, J.P.; Rose, H.; Lieberman, A.

    1984-02-01

    Thrombosed arteriovenous malformations (AVMs) in children are rare lesions that may present with headaches or a seizure disorder. Thirteen patients (4 months to 21 years of age) with this lesion were examined with computed tomography (CT). In 11 patients surgical confirmation was obtained, and the other two patients were examined with follow-up CT scans. Angiography either showed an avascular mass (7/13) or was negative (6/13). CT showed a lobulated lesion (8/13), peripheral location (11/13), and minimal surrounding edema (8/13). All of the lesions were hyperdense prior to the administration of contrast material and all enhanced either slightly or not at all following contrast material administration. It is concluded that these characteristic CT features aid in making the diagnosis of thrombosed AVM. The major differential diagnosis is small intracerebral neoplasm.

  16. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  17. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  18. Computational analyses of arteriovenous malformations in neuroimaging.

    PubMed

    Di Ieva, Antonio; Boukadoum, Mounir; Lahmiri, Salim; Cusimano, Michael D

    2015-01-01

    Computational models have been investigated for the analysis of the physiopathology and morphology of arteriovenous malformation (AVM) in recent years. Special emphasis has been given to image fusion in multimodal imaging and 3-dimensional rendering of the AVM, with the aim to improve the visualization of the lesion (for diagnostic purposes) and the selection of the nidus (for therapeutic aims, like the selection of the region of interest for the gamma knife radiosurgery plan). Searching for new diagnostic and prognostic neuroimaging biomarkers, fractal-based computational models have been proposed for describing and quantifying the angioarchitecture of the nidus. Computational modeling in the AVM field offers promising tools of analysis and requires a strict collaboration among neurosurgeons, neuroradiologists, clinicians, computer scientists, and engineers. We present here some updated state-of-the-art exemplary cases in the field, focusing on recent neuroimaging computational modeling with clinical relevance, which might offer useful clinical tools for the management of AVMs in the future. PMID:25521662

  19. Transjugular intrahepatic portosystemic shunt for severe jaundice in patients with acute Budd-Chiari syndrome

    PubMed Central

    He, Fu-Liang; Wang, Lei; Zhao, Hong-Wei; Fan, Zhen-Hua; Zhao, Meng-Fei; Dai, Shan; Yue, Zhen-Dong; Liu, Fu-Quan

    2015-01-01

    AIM: To evaluate the feasibility of transjugular intrahepatic portosystemic shunt (TIPS) for severe jaundice secondary to acute Budd-Chiari syndrome (BCS). METHODS: From February 2009 to March 2013, 37 patients with severe jaundice secondary to acute BCS were treated. Sixteen patients without hepatic venule, hepatic veins (HV) obstruction underwent percutaneous angioplasty of the inferior vena cava (IVC) and/or HVs. Twenty-one patients with HV occlusion underwent TIPS. Serum bilirubin, liver function, demographic data and operative data of the two groups of patients were analyzed. RESULTS: Twenty-one patients underwent TIPS and the technical success rate was 100%, with no technical complications. Sixteen patients underwent recanalization of the IVC and/or HVs and the technical success rate was 100%. The mean procedure time for TIPS was 84.0 ± 12.11 min and angioplasty was 44.11 ± 5.12 min (P < 0.01). The mean portosystemic pressure in the TIPS group decreased significantly from 40.50 ± 4.32 to 16.05 ± 3.50 mmHg (P < 0.01). The mean portosystemic pressure gradient decreased significantly from 33.60 ± 2.62 to 7.30 ± 2.21 mmHg (P < 0.01). At 8 wk after the procedures, in the TIPS group, total bilirubin (TBIL) decreased significantly from 266.24 ± 122.03 before surgery to 40.11 ± 3.52 μmol/L (P < 0.01) and direct bilirubin (DBIL) decreased significantly from 194.22 ± 69.82 μmol/L to 29.82 ± 3.10 μmol/L (P < 0.01). In the angioplasty group, bilirubin returned to the normal range, with TBIL decreased significantly from 258.22 ± 72.71 μmol/L to 13.33 ± 3.54 μmol/L (P < 0.01) and DBIL from 175.08 ± 39.27 to 4.03 ± 1.74 μmol/L (P < 0.01). Liver function improved faster than TBIL. After 2 wk, in the TIPS group, alanine aminotransferase (ALT) decreased significantly from 50.33 ± 40.61 U/L to 28.67 ± 7.02 U/L (P < 0.01) and aspartate aminotransferase (AST) from 49.46 ± 34.33 U/L to 26.89 ± 8.68 U/L (P < 0.01). In the angioplasty group, ALT decreased significantly from 51.56 ± 27.90 to 14.22 ± 2.59 μmol/L (P < 0.01) and AST from 60.66 ± 39.89 μmol/L to 8.18 ± 1.89 μmol/L (P < 0.01). After mean follow-up of 12.6 mo, there was no recurrence of jaundice in either group. CONCLUSION: Severe jaundice is not a contraindication for TIPS in patients with acute BCS and TIPS is appropriate for severe jaundice due to BCS. PMID:25741149

  20. Embolization of cerebral arteriovenous malformations with bucrylate.

    PubMed

    Debrun, G; Vinuela, F; Fox, A; Drake, C G

    1982-05-01

    Forty-six patients with cerebral arteriovenous malformations (AVM's) were selected for embolization with bucrylate. These patients were assigned to three different groups. Group I consisted of 22 patients with nonresectable AVM's who were selected for embolization with a Silastic calibrated-leak ballon. In 16 or these patients, embolization was achieved, with partial obliteration of the AVM in 14 and complete obliteration in two. Five patients had subarachnoid hemorrhage caused by the balloon bursting and concomitant dissection of the feeding vessel. Four of these patients recovered completely and one died of a brain-stem hemorrhage. A permanent field defect was noted in five cases, and two patients had a transient mild neurological deficit. Group II consisted of 13 patients treated by intraoperative embolization. Complete obliteration by embolization was obtained in four cases, and complete surgical resection after embolization in five. Partial embolization with no surgical resection was achieved in five cases. Three of these patients had a permanent mild neurological deficit and two had transient deficits. There was no mortality in this group. Group III consisted of 11 patients treated by embolization with bucrylate using a new latex calibrated-leak balloon. This balloon has a higher malleability, and takes on the exact configuration of the feeder, with no risk of dissection. This balloon also permits delivery of the faster and larger injection of bucrylate to the arterial feeders of the AVM. Two AVM's were completely obliterated, and embolization was only partially successful in the other cases. Neurological complications consisted of incomplete field defects in two cases, slight memory loss in one case, and transient clumsiness of the arm and face in one case. Two patients have a catheter permanently glued in the malformation, with no neurological complication. There was no mortality in this group. PMID:7069472

  1. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  2. Who will save the tokamak - Harry Potter, Arnold Schwarzenegger, or Shaquille O'Neil?

    NASA Astrophysics Data System (ADS)

    Freidberg, J.; Mangiarotti, F.; Minervini, J.

    2014-10-01

    The tokamak is the current leading contender for a fusion power reactor. The reason for the preeminence of the tokamak is its high quality plasma physics performance relative to other concepts. Even so, it is well known that the tokamak must still overcome two basic physics challenges before becoming viable as a DEMO and ultimately a reactor: (1) the achievement of non-inductive steady state operation, and (2) the achievement of robust disruption free operation. These are in addition to the PMI problems faced by all concepts. The work presented here demonstrates by means of a simple but highly credible analytic calculation that a ``standard'' tokamak cannot lead to a reactor - it is just not possible to simultaneously satisfy all the plasma physics plus engineering constraints. Three possible solutions, some more well-known than others, to the problem are analyzed. These visual image generating solutions are defined as (1) the Harry Potter solution, (2) the Arnold Schwarzenegger solution, and (3) the Shaquille O'Neil solution. Each solution will be described both qualitatively and quantitatively at the meeting.

  3. Detecting somatic mutations in genomic sequences by means of Kolmogorov–Arnold analysis

    PubMed Central

    Gurzadyan, V. G.; Yan, H.; Vlahovic, G.; Kashin, A.; Killela, P.; Reitman, Z.; Sargsyan, S.; Yegorian, G.; Milledge, G.; Vlahovic, B.

    2015-01-01

    The Kolmogorov–Arnold stochasticity parameter technique is applied for the first time to the study of cancer genome sequencing, to reveal mutations. Using data generated by next-generation sequencing technologies, we have analysed the exome sequences of brain tumour patients with matched tumour and normal blood. We show that mutations contained in sequencing data can be revealed using this technique, thus providing a new methodology for determining subsequences of given length containing mutations, i.e. its value differs from those of subsequences without mutations. A potential application for this technique involves simplifying the procedure of finding segments with mutations, speeding up genomic research and accelerating its implementation in clinical diagnostics. Moreover, the prediction of a mutation associated with a family of frequent mutations in numerous types of cancers based purely on the value of the Kolmogorov function indicates that this applied marker may recognize genomic sequences that are in extremely low abundance and can be used in revealing new types of mutations. PMID:26361546

  4. Arnold diffusion for smooth convex systems of two and a half degrees of freedom

    NASA Astrophysics Data System (ADS)

    Kaloshin, V.; Zhang, K.

    2015-08-01

    In the present note we announce a proof of a strong form of Arnold diffusion for smooth convex Hamiltonian systems. Let { T}2 be a 2-dimensional torus and B2 be the unit ball around the origin in { R}2 . Fix ? > 0. Our main result says that for a ‘generic’ time-periodic perturbation of an integrable system of two degrees of freedom H_0(p)+\\varepsilon H_1(?,p,t),\\quad ?\\in { T}^2, p\\in B^2, t\\in { T}={ R}/{ Z} , with a strictly convex H0, there exists a ?-dense orbit (??, p?, t)(t) in { T}2 × B2 × { T} , namely, a ?-neighborhood of the orbit contains { T}2 × B2 × { T} . Our proof is a combination of geometric and variational methods. The fundamental elements of the construction are the usage of crumpled normally hyperbolic invariant cylinders from [9], flower and simple normally hyperbolic invariant manifolds from [36] as well as their kissing property at a strong double resonance. This allows us to build a ‘connected’ net of three-dimensional normally hyperbolic invariant manifolds. To construct diffusing orbits along this net we employ a version of the Mather variational method [41] equipped with weak KAM theory [28], proposed by Bernard in [7].

  5. Long-Term Follow-Up After Successful Transjugular Intrahepatic Portosystemic Shunt Placement in a Pediatric Patient with Budd-Chiari Syndrome

    SciTech Connect

    Carnevale, Francisco Cesar Szejnfeld, Denis Moreira, Airton Mota; Gibelli, Nelson; Gregorio, Miguel Angel De; Tannuri, Uenis; Cerri, Giovanni Guido

    2008-11-15

    Orthotopic liver transplantation is the standard of care in patients with Budd-Chiari syndrome (BCS), and transjugular intrahepatic portosystemic shunt (TIPS) has become an important adjunct procedure while the patient is waiting for a liver. No long-term follow up of TIPS in BCS patients has been published in children. We report successful 10-year follow-up of a child with BCS and iatrogenic TIPS dysfunction caused by oral contraceptive use.

  6. Transjugular Intrahepatic Portosystemic Shunt Creation in Budd-Chiari Syndrome: Percutaneous Ultrasound-Guided Direct Simultaneous Puncture of the Portal Vein and Vena Cava

    SciTech Connect

    Boyvat, Fatih Aytekin, Cueneyt; Harman, Ali; Ozin, Yasemin

    2006-10-15

    Budd-Chiari syndrome (BCS) is an uncommon disorder that can be life-threatening, depending on the degree of hepatic venous outflow obstruction. Transjugular intrahepatic portosystemic shunt (TIPS) provides decompression of the congested liver but the hepatic vein obstruction makes the procedure more difficult. We describe a modified method that involved a single percutaneous puncture of the portal vein and inferior vena cava simultaneously for TIPS creation in a patient with BCS.

  7. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

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

  8. L’ostéotomie de Chiari dans la prise en charge de la dysplasie de la hanche chez l’adulte: à propos de 9 cas

    PubMed Central

    Shimi, Mohammed; Mahdane, Hicham; Mechchat, Atif; El Ibrahimi, Abedelhalim; El Mrini, Abedelmajid

    2013-01-01

    La dysplasie acétabulaire de l’adulte jeune entraîne, dans plus de 50% des cas, une coxarthrose secondaire avant l’âge de 50 ans, l’ostéotomie de CHIARI a été décrite initialement dans le traitement de la dysplasie acétabulaire de l’enfant et de l’adolescent, elle a vu ses indications s’étendre à la dysplasie acétabulaire de l’adulte. Nous avons réalisé 9 ostéotomies de CHIARI de 2009 à 2012. Les 9 hanches ont été évaluées cliniquement et radiologiquement en préopératoire et en postopératoire, avec un recul moyen de 18.4 mois. L’ostéotomie a été réalisée sur des hanches douloureuses dysplasiques, sans arthrose (45%) ou avec une arthrose peu évoluée (stade 2: 11%) ou évoluée (stade 3 et 4: 44%). Les résultats fonctionnels ont été très satisfaisants au dernier recul. En effet, le score PMA au dernier recul était de 17.4 en moyenne, avec en particulier, une action antalgique remarquable. Radiologiquement, l’ostéotomie a normalisé pratiquement dans tous les cas la coxométrie, grâce à une médialisation importante habituellement supérieure à 20 mm (87.5%). L’ostéotomie de CHIARI est une intervention sûre. Si l’indication est correctement posée, elle soulage remarquablement les patients et stoppe l’arthrose. Elle garde donc une place privilégiée dans le traitement de la coxarthrose même évoluée sur dysplasie acétabulaire pure ou mixte. PMID:23565312

  9. Genetics Home Reference: Megalencephaly-capillary malformation syndrome

    MedlinePLUS

    ... these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as ... cell ; cell proliferation ; cM ; cutaneous ; disability ; enzyme ; gene ; hydrocephalus ; hypotonia ; inherited ; kidney ; kinase ; macrocephaly ; malformation ; megalencephaly ; mosaicism ; ...

  10. A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage.

    PubMed

    Supakul, Nucharin; Fan, Rong; Karmazyn, Boaz

    2012-12-01

    Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting. The child had diffuse intraparenchymal hemorrhage throughout the right lower and middle lobes and underwent resection. Pathology confirmed the diagnosis of venous malformation complicated with bleeding. PMID:23217914

  11. Management strategy after diagnosis of Abernethy malformation: a case report

    PubMed Central

    2012-01-01

    Introduction The Abernethy malformation is a rare anomaly with a widely variable clinical presentation. Many diagnostic dilemmas have been reported. Nowadays, with the evolution of medical imaging, diagnosis can be made more easily, but management of patients with an Abernethy malformation is still open for discussion. Case presentation In this case study, we describe a 34-year-old Caucasian man who presented with a large hepatocellular carcinoma in the presence of an Abernethy malformation, which was complicated by the development of pulmonary arterial hypertension. Conclusion This case underlines the importance of regular examination of patients with an Abernethy malformation, even in older patients, to prevent complications and to detect liver lesions at an early stage. PMID:22742057

  12. Genetics Home Reference: Microcephaly-capillary malformation syndrome

    MedlinePLUS

    ... proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies ... cell ; degrade ; developmental delay ; egg ; endocytosis ; epilepsy ; gene ; homeostasis ; inheritance ; inherited ; malformation ; microcephaly ; myoclonus ; pattern of inheritance ; ...

  13. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  14. MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL

  15. Macrocephaly-capillary malformation presenting with fetal arrhythmia.

    PubMed

    Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana

    2012-01-01

    Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570

  16. Base-flow data in the Arnold Air Force Base area, Tennessee, June and October 2002

    USGS Publications Warehouse

    Robinson, John A.; Haugh, Connor J.

    2004-01-01

    Arnold Air Force Base (AAFB) occupies about 40,000 acres in Coffee and Franklin Counties, Tennessee. The primary mission of AAFB is to support the development of aerospace systems. This mission is accomplished through test facilities at Arnold Engineering Development Center (AEDC), which occupies about 4,000 acres in the center of AAFB. Base-flow data including discharge, temperature, and specific conductance were collected for basins in and near AAFB during high base-flow and low base-flow conditions. Data representing high base-flow conditions from 109 sites were collected on June 3 through 5, 2002, when discharge measurements at sites with flow ranged from 0.005 to 46.4 ft3/s. Data representing low base-flow conditions from 109 sites were collected on October 22 and 23, 2002, when discharge measurements at sites with flow ranged from 0.02 to 44.6 ft3/s. Discharge from the basin was greater during high base-flow conditions than during low base-flow conditions. In general, major tributaries on the north side and southeastern side of the study area (Duck River and Bradley Creek, respectively) had the highest flows during the study. Discharge data were used to categorize stream reaches and sub-basins. Stream reaches were categorized as gaining, losing, wet, dry, or unobserved for each base-flow measurement period. Gaining stream reaches were more common during the high base-flow period than during the low base-flow period. Dry stream reaches were more common during the low base-flow period than during the high base-flow period. Losing reaches were more predominant in Bradley Creek and Crumpton Creek. Values of flow per square mile for the study area of 0.55 and 0.37 (ft3/s)/mi2 were calculated using discharge data collected on June 3 through 5, 2002, and October 22 and 23, 2002, respectively. Sub-basin areas with surplus or deficient flow were defined within the basin. Drainage areas for each stream measurement site were delineated and measured from topographic maps. Change in flow per square mile for each sub-basin was calculated using data from each base-flow measurement period. The calculated values were used to define the areas of surplus or deficient flow for high and low base-flow conditions. Many areas of deficient flow were present throughout the study area under high and low base-flow conditions. Most areas of deficient flow were in the headwater basins. Fewer areas of surplus flow were present under low base-flow conditions than during the high base-flow conditions. The flow per square mile for each major tributary basin in the study area also was calculated. The values of flow per square mile for the Dry Creek, Spring Creek, and Wiley Creek basins were greatest under both high and low base-flow conditions.

  17. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  18. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  19. Novel transcatheter closure of internal iliac arteriovenous malformation.

    PubMed

    Shankarappa, Ravindranath Khandenahally; Panneerselvam, Arunkumar; Dwarakaprasad, Ramesh; Chikkaswamy, Srinivas Budanur; Nayak, Mohan Honnayya; Nanjappa, Manjunath Cholenahally

    2011-05-01

    Arteriovenous malformations arising from iliac arteries are rare anomalies. Percutaneous embolization of such malformations is an established therapeutic option. In this paper, we will describe a case, wherein the internal iliac artery feeding a giant arteriovenous fistula was closed using a patent ductus arteriosus (PDA) duct occluder percutaneously. The PDA duct occluder is a versatile device that can be used as an alternative to vascular plugs. PMID:24122535

  20. Meningomyelocele: the tip of the iceberg

    PubMed Central

    Shinde, Sweety; Singhal, Shikha

    2009-01-01

    Meningomyelocele is one of the commonest neural tube closure defects. A 2-month-old girl presented with meningomyelocele in the lumbosacral region that had been present since birth. She had experienced paraparesis for 1 month. Terminally, she had excessive crying, and died within 1 week of presentation. An autopsy revealed focally infected meningomyelocele with features of Arnold–Chiari II malformation. Associated malformations included polymicrogyria, neuronal heterotopias and neuronal cytomegaly in the brainstem. Cortical malformations may be detected radiologically, thus prompting surgical intervention and reduced mortality. By contrast, the presence of cytomegaly may hinder postsurgical improvement, affecting intellectual outcome in survivors in particular. New genetic revelations also offer a scope for genetic counselling in these conditions. PMID:21853006

  1. [Analysis of fetal posterior fossa during the first trimester ultrasound scan].

    PubMed

    Mace, P; Quarello, E

    2016-01-01

    The diagnosis of an abnormal fetal posterior fossa is usually done during the second trimester scan. However, some forms of open spina bifida with Arnold-Chiari malformation can be detected from the first trimester ultrasound with a precise examination of the posterior fossa and intracranial translucency. Furthermore, other abnormalities of the posterior fossa such as cystic malformations also seem to be accessible to early detection. This work detailed the possible usual and unusual aspects of the posterior fossa individualized during the first trimester ultrasound scan. Identifying an unusual appearance may identify high-risk fetus to present an abnormality of the posterior fossa. Then, thorough analysis of the fetal brain from 18weeks will often differentiate a normal variant of a real brain malformation. PMID:26655060

  2. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

    Sower, S A; Reed, K L; Babbitt, K J

    2000-01-01

    Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

  3. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

    Eballé, André Omgbwa; Ellong, Augustin; Koki, Godefroy; Nanfack, Ngoune Chantal; Dohvoma, Viola Andin; Mvogo, Côme Ebana

    2012-01-01

    Summary The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. Patients and methods We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009. Results Out of the 2254 children who were examined, 150 (6.65%) presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), microphthalmos (5.03%), and congenital ptosis (3.77%). Conclusion Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management. PMID:23055685

  4. Sleep Spindle Alterations in Patients with Malformations of Cortical Development

    PubMed Central

    Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.

    2009-01-01

    Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep. PMID:18667284

  5. Hypofractionated stereotactic radiotherapy for large arteriovenous malformations

    PubMed Central

    Wang, Huan-Chih; Chang, Rachel J.; Xiao, Furen

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins, with possible serious consequences of intracranial hemorrhage. The curative treatment for AVMs includes microsurgery and radiosurgery, sometimes with embolization as an adjunct. However, controversies exist with the treatment options available for large to giant AVMs. Hypofractionated stereotactic radiotherapy (HSRT) is one treatment option for such difficult lesions. We aim to review recent literature, looking at the treatment outcome of HSRT in terms of AVM obliteration rate and complications. The rate of AVM obliteration utilizing HSRT as a primary treatment was comparable with that of stereotactic radiosurgery (SRS). For those not totally obliterated, HSRT makes them smaller and turns some lesions manageable by single-dose SRS or microsurgery. Higher doses per fraction seemed to exhibit better response. However, patients receiving higher total dose may be at risk for higher rates of complications. Fractionated regimens of 7 Gy × 4 and 6–6.5 Gy × 5 may be accepted compromises between obliteration and complication. Embolization may not be beneficial prior to HSRT in terms of obliteration rate or the volume reduction. Future work should aim on a prospectively designed study for larger patient groups and long-term follow-up results. PMID:22826813

  6. Vascular permeability in cerebral cavernous malformations.

    PubMed

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy. PMID:25966944

  7. Stereotactic linac radiosurgery for arteriovenous malformations.

    PubMed Central

    Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V

    1992-01-01

    Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images PMID:1640237

  8. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  9. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  10. [Stereotactically targeted radiotherapy of cerebral arteriovenous malformations].

    PubMed

    Kimmig, B; Engenhart, R; Wowra, B; Höver, K H; Marin-Grez, M; Sturm, V

    1989-09-01

    A report is given about radiotherapy in 41 patients suffering from cerebral vessel anomalies. A modified linear accelerator was used in a moving field technique with multiple pendulum planes to apply single doses between 8 and 28 Gy by means of stereotaxis into the angiographically determined target volume. The medium follow-up is 23 months. The latency of radiogenic effects is between one and two years. Radiological controls with an interval of more than 18 months after therapy are available in 17 out of 41 patients. Angiographic investigation showed complete obliterations of pathological vessels in six out of these patients and partial obliterations in six patients; five patients remained unchanged. There were no acute complications. Seven patients presented neurological deficiencies with a latency of 6 to 12 months, however, in all cases but one they regressed completely. Even taking into consideration the small number of patients and the short time of observation, a comparison with the results of other radiotherapeutical proceedings allows to draw the conclusion that the presented technique of stereotaxic convergent-beam irradiation represents a relatively simple, reliable and, in case of precise indication, efficient method for the therapy of cerebral arteriovenous malformations. PMID:2678547

  11. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

    Holden, Van K.; Shah, Nirav G.; Verceles, Avelino C.

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening.

  12. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

    Tucker, Adam; Tsuji, Masao; Yamada, Yoshitaka; Hanabusa, Kenichiro; Ukita, Tohru; Miyake, Hiroji; Ohmura, Takehisa

    2015-01-01

    We describe a rare case of an arteriovenous malformation (AVM) embedded in the vestibulocochlear nerve presenting with subarachnoid hemorrhage (SAH) treated by microsurgical elimination of the main feeding artery and partial nidus volume reduction with no permanent deficits. This 70-year-old woman was incidentally diagnosed 4 years previously with two small unruptured tandem aneurysms (ANs) on the right anterior inferior cerebral artery feeding a small right cerebellopontine angle AVM. The patient was followed conservatively until she developed sudden headache, nausea and vomiting and presented to our outpatient clinic after several days. Magnetic resonance imaging demonstrated findings suggestive of early subacute SAH in the quadrigeminal cistern. A microsurgical flow reduction technique via clipping between the two ANs and partial electrocoagulation of the nidus buried within the eighth cranial nerve provided radiographical devascularization of the ANs with residual AVM shunt flow and no major deficits during the 2.5 year follow-up. This is only the second report of an auditory nerve AVM. In the event of recurrence, reoperation or application of alternative therapies may be considered. PMID:26244159

  13. Diagnosis and evaluation of intracranial arteriovenous malformations

    PubMed Central

    Conger, Andrew; Kulwin, Charles; Lawton, Michael T.; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Ideal management of intracranial arteriovenous malformations (AVMs) remains poorly defined. Decisions regarding management of AVMs are based on the expected natural history of the lesion and risk prediction for peritreatment morbidity. Microsurgical resection, stereotactic radiosurgery, and endovascular embolization alone or in combination are all viable treatment options, each with different risks. The authors attempt to clarify the existing literature's understanding of the natural history of intracranial AVMs, and risk-assessment grading scales for each of the three treatment modalities. Methods: The authors conducted a literature review of the existing AVM natural history studies and studies that clarify the utility of existing grading scales available for the assessment of peritreatment risk for all three treatment modalities. Results: The authors systematically outline the diagnosis and evaluation of patients with intracranial AVMs and clarify estimation of the expected natural history and predicted risk of treatment for intracranial AVMs. Conclusion: AVMs are a heterogenous pathology with three different options for treatment. Accurate assessment of risk of observation and risk of treatment is essential for achieving the best outcome for each patient. PMID:25984390

  14. The Eisenmenger malformation: a morphologic study.

    PubMed

    Restivo, Angelo; di Gioia, Cira R T; Anderson, Robert H; Carletti, Raffaella; Gallo, Pietro

    2016-02-01

    We studied 11 autopsied cases of the Eisenmenger malformation, comparing the findings with 11 hearts with intact ventricular septal structures, and nine hearts having perimembranous ventricular septal defects in the absence of aortic overriding. We found variable lengths for the subpulmonary infundibulum in the hearts with Eisenmenger defects. It was well developed in three hearts, of intermediate length in seven, and very short in one of the specimens. The muscular outlet septum was also of variable length compared with the free-standing subpulmonary infundibular sleeve. Except for one, all hearts had fibrous continuity between the aortic and tricuspid valvar leaflets, such that the ventricular septal defect was then perimembranous. In the remaining case, there was a completely subaortic muscular infundibulum, with the ventricular septal defect showing only muscular borders. The medial papillary muscle was absent in the majority of cases, but was well formed in three hearts, all with relatively short muscular outlet septums. We identified mild, intermediate, and severe degrees of rightward rotation of the aortic valve, and these findings correlated with the extent of aortic valvar overriding. In nine of the 11 hearts, the ventriculo-arterial connections were concordant, but there was double-outlet from the right ventricle in the other two specimens. Based on our anatomic and morphometric observations, we conclude that the hearts we have defined as having Eisenmenger defects show marked individual variation in their specific phenotypic anatomy. PMID:25687391

  15. From the 'Village of a Thousand Souls' to 'Race Crossing in Jamaica': Arnold Gesell, eugenics and child development.

    PubMed

    Weizmann, Fredric

    2010-01-01

    Perhaps best known for providing age-related norms in early development, norms that are still used as a basis for measures of developmental maturity, Arnold Gesell was a key figure in developmental psychology from the 1920s through the 1950s. After examining Gesell's reputation and status in the field, we explore Gesell's changing relationship to eugenics, both in terms of Gesell's often contradictory attitudes about the role of hereditary and environmental influences in development, and in terms of the broader relationship between the eugenics movement and science. PMID:20623743

  16. Micro-lens array based 3-D color image encryption using the combination of gravity model and Arnold transform

    NASA Astrophysics Data System (ADS)

    You, Suping; Lu, Yucheng; Zhang, Wei; Yang, Bo; Peng, Runling; Zhuang, Songlin

    2015-11-01

    This paper proposes a 3-D image encryption scheme based on micro-lens array. The 3-D image can be reconstructed by applying the digital refocusing algorithm to the picked-up light field. To improve the security of the cryptosystem, the Arnold transform and the Gravity Model based image encryption method are employed. Experiment results demonstrate the high security in key space of the proposed encryption scheme. The results also indicate that the employment of light field imaging significant strengthens the robustness of the cipher image against some conventional image processing attacks.

  17. Prevalence of Budd-Chiari Syndrome during Pregnancy or Puerperium: A Systematic Review and Meta-Analysis

    PubMed Central

    Ren, Weirong; Li, Xiang; Jia, Jia; Xia, Yan; Hu, Fengrong; Xu, Zhengyu

    2015-01-01

    Women during pregnancy or puerperium are likely to develop Budd-Chiari syndrome (BCS). However, the reported prevalence of pregnancy-related BCS varied considerably among studies. Our study aims to systematically review this issue. Overall, 817 papers were initially identified via the PubMed, EMBASE, China National Knowledge Infrastructure, and Chinese Scientific and Technological Journal databases. Twenty of them were eligible. The prevalence of pregnancy-related BCS varied from 0% to 21.5%. The pooled prevalence was 6.8% (95% CI: 3.9–10.5%) in all BCS patients, 6.3% (95% CI: 3.8–9.4%) in primary BCS patients, and 13.1% (95% CI: 7.1–20.7%) in female BCS patients. Among them, one study was carried out in Africa with a prevalence of 10.6%; 14 studies in Asian countries with a pooled prevalence of 7.1% (95% CI: 3.1–12.6%); and 5 studies in European countries with a pooled prevalence of 5.0% (95% CI: 3.1–7.3%). The pooled prevalence was 6.7% (95% CI: 2.6–12.3%) in studies published before 2005 and 7.3% (95% CI: 4.2–12.5%) in those published after 2005. In conclusion, pregnancy is a relatively common risk factor for BCS, but there is a huge variation in the prevalence among studies. Physicians should be aware of pregnancy-related BCS. PMID:26457079

  18. Budd-Chiari Syndrome in China: A Systematic Analysis of Epidemiological Features Based on the Chinese Literature Survey

    PubMed Central

    Zhang, Wei; Qi, Xun; Zhang, Xitong; Su, Hongying; Zhong, Hongshan; Shi, Jingpu; Xu, Ke

    2015-01-01

    Background. Thousands of Budd-Chiari syndrome (BCS) studies have been published in China, and yet no one has explored its incidence or prevalence in the whole country. Methods. Three most commonly used Chinese language electronic databases were searched, and epidemiological data were extracted from the selected articles. Results. By the end of 2013, 20191 BCS cases were reported in China. The mean age of BCS patients was 36.29 ± 1.28 years, and ratio of male to female was 150/100. About 80% BCS patients were distributed in Henan, Shandong, Beijing, Jiangsu, and Anhui, and all of them except for Beijing were located in the downstream areas of Yellow River and the whole Huai River basin. The incidence and prevalence of BCS in China with and without the top 5 high-prevalence areas were estimated to be 0.88/million per year and 7.69/million and 0.28/million per year and 2.21/million, respectively. Conclusions. Most BCS patients in China are distributed in the downstream areas of Yellow River and the whole Huai River basin. The incidence and prevalence are comparable to those of Western countries without taking into account the top 5 high-prevalence areas. PMID:26504461

  19. Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report

    PubMed Central

    Mandala, E; Lafaras, C; Goulis, I; Tsioni, K; Georgopoulou, V; Ilonidis, G

    2013-01-01

    Background. Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of hematopoietic stem cells involving all blood cells. Erythrocytes have increased susceptibility to complement-mediated haemolysis. Thrombosis is the leading cause of mortality and follows episodes of acute hemolysis. Eculizumab, a monoclonal antibody blocking activation of complement C5 is currently used in the treatment of PNH. Recent results demonstrated that eculizumab effectively reduces thrombosis. Description of case. We present a 30-year-old male patient admitted with abdominal and lumbar pain. Thorough investigation revealed severe hemolytic anemia requiring transfusions and hepatosplenomegaly. Imaging findings were compatible with a Budd-Chiari syndrome. Flow cytometry confirmed the PNH diagnosis. Due to refractory ascites he underwent a transjugular intrahepatic portal-systemic shunt (TIPS) and eculizumab administration was started. Results. He has already completed three years of eculizumab treatment and he is transfusion independent. There is also a significant reduction in fatigue with improvement in his quality of life. Doppler scans of his TIPS persistently show it to be patent. Conclusions. Classical PNH patients with thrombosis and severe intravascular hemolysis are particularly challenging to manage. For these patients, eculizumab is a reasonable therapeutic option, expecting that by decreasing the risk for thrombosis, life expectancy may be increased. PMID:23935352

  20. Budd-Chiari Syndrome in China: A Systematic Analysis of Epidemiological Features Based on the Chinese Literature Survey.

    PubMed

    Zhang, Wei; Qi, Xun; Zhang, Xitong; Su, Hongying; Zhong, Hongshan; Shi, Jingpu; Xu, Ke

    2015-01-01

    Background. Thousands of Budd-Chiari syndrome (BCS) studies have been published in China, and yet no one has explored its incidence or prevalence in the whole country. Methods. Three most commonly used Chinese language electronic databases were searched, and epidemiological data were extracted from the selected articles. Results. By the end of 2013, 20191 BCS cases were reported in China. The mean age of BCS patients was 36.29 ± 1.28 years, and ratio of male to female was 150/100. About 80% BCS patients were distributed in Henan, Shandong, Beijing, Jiangsu, and Anhui, and all of them except for Beijing were located in the downstream areas of Yellow River and the whole Huai River basin. The incidence and prevalence of BCS in China with and without the top 5 high-prevalence areas were estimated to be 0.88/million per year and 7.69/million and 0.28/million per year and 2.21/million, respectively. Conclusions. Most BCS patients in China are distributed in the downstream areas of Yellow River and the whole Huai River basin. The incidence and prevalence are comparable to those of Western countries without taking into account the top 5 high-prevalence areas. PMID:26504461

  1. [The obstetrical outlook in uterine malformations].

    PubMed

    Rudigoz, R C; Gaucherand, P; Dargent, D

    1989-01-01

    The authors start with an anatomical description which makes it possible to distinguish from one another septate, bicornuate unicornuate and pseudo-cornuate uteri. The diagnosis is often suggested by the clinical features and is made by using complementary examinations such as ultrasound, hysterography, hysteroscopy and laparoscopy. Although it is difficult to be sure of the incidence of the condition it is thought to be around 1%. In the 10 years from 1978 to 1987 the authors have studied 296 pregnancies occurring in 109 patients who were not operated on and 34 pregnancies occurring in 21 patients who had plastic operations on their uteri. They show that the condition has an effect at all stages of pregnancy and delivery and in the first category of patients (abortion in 38%, extra-uterine pregnancy in 8%, prematurity, pre-eclampsia and malpresentation in 28%, with a high rate for caesarean section in 37%). The prognosis was quite different in patients who had been operated on. The published literature confirms these findings. The authors discuss the different ways of carrying out surgical treatment (simple section or excision of the septum, or Bret-Palmer's plastic operation on the uterus with treatment of the associated vaginal abnormalities), plus the medical treatment (with rest and the use of vasodilatators and drugs for anti-platelet aggregation) to be used during the pregnancy. They conclude that it is necessary to make a diagnosis of what type of malformation is present, to decide which surgical procedures to carry out as this does improve the prognosis greatly. PMID:2723350

  2. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  3. Surgical Strategies for Acutely Ruptured Arteriovenous Malformations.

    PubMed

    Martinez, Jaime L; Macdonald, R Loch

    2015-11-01

    Brain arteriovenous malformations (AVMs) are focal neurovascular lesions consisting of abnormal fistulous connections between the arterial and venous systems with no interposed capillaries. This arrangement creates a high-flow circulatory shunt with hemorrhagic risk and hemodynamic abnormalities. While most AVMs are asymptomatic, they may cause severe neurological complications and death. Each AVM carries an annual rupture risk of 2-4%. Intracranial hemorrhage due to AVM rupture is the most common initial manifestation (up to 70% of presentations), and it carries significant morbidity and mortality. This complication is particularly important in the young and otherwise healthy population, in whom AVMs cause up to one-third of all hemorrhagic strokes. A previous rupture is the single most important independent predictor of future hemorrhage. Current treatment modalities for AVM are microsurgery, endovascular embolization, and radiosurgery. In acutely ruptured AVMs, early microsurgical excision is usually avoided. The standard is to wait at least 4 weeks to allow for patient recovery, hematoma liquefaction, and inflammatory reactions to subside. Exceptions to this rule are small, superficial, low-grade AVMs with elucidated angioarchitecture, for which early simultaneous hematoma evacuation and AVM excision is feasible. Emergent hematoma evacuation with delayed AVM excision (unless, as mentioned, the AVM is low grade) is recommended in patients with a decreased level of consciousness due to intracranial hemorrhage, posterior fossa or temporal lobe hematoma of >30 ml, or hemispheric hematoma of >60 ml. The applicability of endovascular techniques for acutely ruptured AVMs is not clear, but feasible options, until a definitive treatment is determined, include occluding intranidal and distal flow-related aneurysms and 'sealing' any rupture site or focal angioarchitectural weakness when one can be clearly identified and safely accessed. Radiosurgery is not performed in acutely ruptured AVMs because its therapeutic effects occur in a delayed fashion. PMID:26587641

  4. Endovascular treatment of posterior fossa arteriovenous malformations.

    PubMed

    Robert, T; Blanc, R; Ciccio, G; Gilboa, B; Fahed, R; Boissonnet, H; Redjem, H; Pistocchi, S; Bartolini, B; Piotin, M

    2016-03-01

    Infratentorial arteriovenous malformations (AVM) are rare, representing only 7-15% of cerebral AVM. The concentration of eloquent neurological structures and the high rate of bleeding presentation of AVM in this location complicate the management of such lesions. New therapeutic options, especially in endovascular therapy, have fundamentally modified the treatment strategy and also the outcome of posterior fossa AVM. Between 1999 and 2013, baseline, clinical and angiographic data of cerebral AVM were prospectively collected. We analyzed data from patients treated for a posterior fossa AVM, focusing on risk factors for bleeding, and clinical and angiographic outcomes. Sixty-nine patients (mean age 34years, male to female ratio 2:1) were consecutively treated for an infratentorial AVM. Fifty-seven presented with hemorrhage, six with focal neurologic deficits, and the remaining six patients were diagnosed incidentally. The Spetzler-Martin grade was <3 in 39 (56.5%) patients. Associated aneurysms were noted in 43.5% of patients. All patients were treated using endovascular procedures, associated with microsurgical resection in nine patients and with stereotactic radiosurgery in six. Mean follow-up was 28.5months, with angiographic exclusion of the AVM in 72.5% of patients; 21.7% of patients presented a modified Rankin Score ?3 at follow-up. Endovascular embolization seems to be a secure approach for posterior fossa AVM although a large number of sessions are necessary to achieve complete obliteration. Multi-disciplinary discussion and management is crucial to obtain the best cure rate without increasing procedural risks. PMID:26549679

  5. Sex and congenital malformations: an international perspective.

    PubMed

    Lisi, Alessandra; Botto, Lorenzo D; Rittler, Monica; Castilla, Eduardo; Bianca, Sebastiano; Bianchi, Fabrizio; Botting, Beverley; De Walle, Hermien; Erickson, J David; Gatt, Miriam; De Vigan, Catherine; Irgens, Lorentz; Johnson, William; Lancaster, Paul; Merlob, Paul; Mutchinick, Osvaldo M; Ritvanen, Annukka; Robert, Elisabeth; Scarano, Gioacchino; Stoll, Claude; Mastroiacovo, Pierpaolo

    2005-04-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects. PMID:15704121

  6. Hydrology and tree-distribution patterns of karst wetlands at Arnold Engineering Development Center, Tennessee

    USGS Publications Warehouse

    Wolfe, W.J.

    1996-01-01

    Flooding regimes, ground-water interactions, and tree distribution patterns were determined in seasonally flooded sinkhole wetlands at Arnold Engineering Development Center near Manchester, Tennessee. The wetlands are ecologically significant because they support coastal-plain plants and animals far from their typical ranges. Surface-water stage, ground-water levels, rainfall, and streamflow were monitored at or near five wetland sites. Sinking Pond, Willow Oak Swamp, and Westall Swamp are compound sinks with depths greater than 2.5 meters, visible internal drains, and complex bottom topography dominated by coalesced sinkholes and connecting channels. Tupelo Swamp and Goose Pond are karst pans with depths less than 1.5 meters, flat bottoms, and without visible internal drains. Stage rose and fell abruptly in the compound sinks. Maximum water depths ranged from 2.6 meters in Westall Swamp to 3.5 meters in Sinking Pond. Water levels in wells adjacent to Sinking Pond and Westall Swamp rose and fell abruptly, corresponding closely to surface-water stage throughout periods of high water. The two karst pans filled and drained more gradually, but remained flooded longer than the compound sinks. The maximum recorded water depths were 1.1 meters in Tupelo Swamp and 0.7 meter in Goose Pond. Water levels in nearby wells remained lower than the stage in the pans throughout the study period. Tree species were identified and the elevations and diameters of individual trees were measured along 10 transects. Two transects crossed Sinking Pond, two crossed Tupelo Swamp, and one crossed Willow Oak Swamp. The remaining five transects crossed intermittent drainageways that carry flow into or out of Sinking Pond. Transects through ponds had fewer trees but more basal area per unit area of land surface than did transects through channels. Water tupelo (Nyssa aquatica L.) dominated the interior of Tupelo Swamp and had minimal overlap in terms of elevation and flooding duration with other wetland trees that were confined to the pond's periphery. Overcup oak (Quercus lyrata Walt.) dominated the interior of Sinking Pond. Overlap between overcup oak and other wetland trees in terms of elevation and flooding frequency was minimal across the deeper Sinking Pond transect but was substantial across the shallow transect. Willow oak (Quercus phellos L.) dominated the interior of Willow Oak Swamp and had a relation to other wetland trees similar to that of overcup oak in the shallow Sinking Pond transect. Transects across broad swales had a relatively large degree of vertical zonation among wetland and upland tree species. Along transects through well defined channels, elevation distributions of wetland and some upland tree species were grouped near each other and near the distribution of land-surface elevations.

  7. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  8. Anorectal Malformations Associated with Esophageal Atresia in Neonates

    PubMed Central

    Byun, Shin Yun; Lim, Ryoung Kyoung; Park, Kyung Hee; Kim, Hae Young

    2013-01-01

    Purpose Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia. Methods Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted. Results The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems. Conclusion This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality. PMID:24010103

  9. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  10. A familial venous malformation locus is on chromosome 9p

    SciTech Connect

    Boon, L.M.; Mulliken, J.B.; Vikkula, M.

    1994-09-01

    Venous malformation is the most common vascular malformation affecting 0.2% of the population. Depending upon size and location, these slow-flow lesions may cause pain, anatomic distortion and threaten life. Most venous malformations occur sporadically and present as solitary lesions. For this reason, determining their pathogenic bases has proven elusive. However, venous malformations also occur in several rare syndromes, some of which demonstrate Mendelian inheritance. As a first step towards identifying the pathogenic bases for these lesions, we have mapped a locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24.5 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. A maximum LOD score of 4.11 at {theta} = 0.05 is obtained with several markers within the interval. The interferon gene cluster, which has previously been implicated in angiogenesis, and the multiple tumor suppressor gene, responsible for several types of malignant tumors, also lie within this interval and are potential candidates.

  11. Gross congenital malformation at birth in a government hospital.

    PubMed

    Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

    2014-01-01

    A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management. PMID:24748359

  12. Evaluation and management of congenital peripheral arteriovenous malformations.

    PubMed

    Nassiri, Naiem; Cirillo-Penn, Nolan C; Thomas, Jones

    2015-12-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided based on their flow properties into slow-flow venous and lymphatic malformations, high-flow arteriovenous malformations (AVMs), and congenital mixed syndromes, which can include combinations thereof. Whether occurring in isolation or as part of a broader syndrome, congenital high-flow AVMs are arguably the most complicated, challenging, and gratifying of all vascular malformations to diagnose and manage. Various configurations exist depending on location and coexisting clinical features. Transcatheter embolization has evolved into the mainstay of treatment for most congenital peripheral AVMs with surgical excision playing a growingly limited role as an adjunctive modality. Successful treatment requires technical precision, creativity, patience, and persistence given the ever-evolving angioarchitecture and hemodynamic profile of these lesions. Despite these challenges, certain fundamental principles have been established as our understanding of the pathogenesis, natural history, hemodynamics, and treatment outcomes has expanded and evolved over the last few decades. These principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded upon herein. PMID:26598124

  13. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  14. The use of mobile Raman spectroscopy to compare three full-page miniatures from the breviary of Arnold of Egmond

    NASA Astrophysics Data System (ADS)

    Deneckere, A.; Leeflang, M.; Bloem, M.; Chavannes-Mazel, C. A.; Vekemans, B.; Vincze, L.; Vandenabeele, P.; Moens, L.

    2011-12-01

    The Breviary of Arnold of Egmond is one of the most wealthily illuminated fifteenth century manuscripts in the Northern Netherlands. The manuscript originally contained a number of full-page miniatures, which were all removed at an unknown date before 1902. The three remaining miniatures studied here, are today part of different collections, but they were brought together for an exhibition. Although several historical and art historical details of this breviary have extensively been studied, no examination of the materials used was undertaken before. Analytical techniques, such as mobile Raman spectroscopy, can be used to characterise and identify these materials in a non-invasive way. This paper presents the results of the in situ Raman analysis of three full-page miniatures of the Breviary of Arnold of Egmond. During this study, different pigments could be identified, such as lead white (2PbCO 3·Pb(OH) 2), lead-tin yellow type I (Pb 2SnO 4), ultramarine (Na 8-10Al 6Si 6O 24S 2-4), massicot (PbO), vermilion (HgS) and red lead (Pb 3O 4). Next to identification of the pigments, visual analysis was used to detect differences and similarities between the stylistic elements of the three analysed folios.

  15. Clinical and radiological outcome of combined femoral and Chiari osteotomies for subluxed or dislocated hips secondary to neuromuscular conditions: a minimum of 10-year follow-up.

    PubMed

    Zenios, Michalis; Hannan, Mark; Zafar, Saqib; Henry, Andrew; Galasko, C S B; Khan, Tahir

    2012-08-01

    We evaluated the medium-term results of combined Chiari pelvic and femoral osteotomies performed at the Manchester Children's Hospitals between the years 1985 and 1994. The indications for these osteotomies were either hip dislocation or subluxation in children with neuromuscular disease. We clinically and radiologically evaluated 20 hips in 18 patients treated for hip subluxation and dislocation with Chiari osteotomy. The average post-operative clinical follow-up period was 11.32 years (range 10.1-12.9). The mean age at the time of surgery was 7.3 years (range 3.1-13.2 years). Clinically, 9 hips had a 'Good' outcome, 10 were "Fair" and 1 was "Poor" according to Osterkamp criteria. At last follow-up, radiologically the mean Sharp's angle improved from 51° to 44° (p = 0.09), the mean Centre-Edge angle improved from -16° to 18° (p = 0.067), the mean Migration Index improved from 59 to 29 % (p = 0.011), the mean femoral neck-shaft angle from 160° to 117° (p < 0.0001) and the Severin criteria improved from an average grade of 4.5-2.9 (p < 0.0001). Our results compared to previous studies confirm that combined femoral and Chiari osteotomies provide a favourable outcome both clinically and radiologically at least 10 years following surgery. Accepting that the numbers are small, we report no statistical difference in the mean age at the time of operation when comparing the children with an eventual 'good' outcome and those with an eventual 'fair' or 'poor' outcome. PMID:22562647

  16. Genes and brain malformations associated with abnormal neuron positioning.

    PubMed

    Moffat, Jeffrey J; Ka, Minhan; Jung, Eui-Man; Kim, Woo-Yang

    2015-01-01

    Neuronal positioning is a fundamental process during brain development. Abnormalities in this process cause several types of brain malformations and are linked to neurodevelopmental disorders such as autism, intellectual disability, epilepsy, and schizophrenia. Little is known about the pathogenesis of developmental brain malformations associated with abnormal neuron positioning, which has hindered research into potential treatments. However, recent advances in neurogenetics provide clues to the pathogenesis of aberrant neuronal positioning by identifying causative genes. This may help us form a foundation upon which therapeutic tools can be developed. In this review, we first provide a brief overview of neural development and migration, as they relate to defects in neuronal positioning. We then discuss recent progress in identifying genes and brain malformations associated with aberrant neuronal positioning during human brain development. PMID:26541977

  17. Multiple vascular malformations in head and neck - Rare case report

    PubMed Central

    Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh

    2014-01-01

    Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas. PMID:24959056

  18. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  19. Echocardiographic screening in neonates undergoing surgery for selected gastrointestinal malformations.

    PubMed Central

    Tulloh, R M; Tansey, S P; Parashar, K; De Giovanni, J V; Wright, J G; Silove, E D

    1994-01-01

    To compare echocardiography with clinical examination, radiography, and electrocardiography for the detection of congenital heart defects (CHD) a four year prospective study was carried out in 166 neonates with selected congenital gastrointestinal malformations (anorectal anomaly, tracheo-oesophageal fistula, duodenal atresia, exomphalos, and gastroschisis). Routine examination and investigation detected CHD in 16 neonates. Using echocardiography CHD was diagnosed in 38 (23%) neonates of whom five had two gastrointestinal malformations: in 22/57 (39%) with a tracheo-oesophageal fistula, 10/67 (15%) with an anorectal anomaly, 4/20 (20%) with exomphalos, 6/20 (30%) with duodenal atresia, and 1/7 with gastroschisis. A significantly higher incidence of CHD in neonates with gastrointestinal malformations was diagnosed using echocardiography (23%) compared with routine examination and investigation (9%). Early diagnosis of CHD allowed a unified approach to be presented to the family. PMID:8198415

  20. Baller-Gerold syndrome associated with congenital portal venous malformation.

    PubMed Central

    Savarirayan, R; Tomlinson, P; Thompson, E

    1998-01-01

    We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes. Images PMID:9733037

  1. Models of cortical malformation-Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  2. Imaging features of lower limb malformations above the foot.

    PubMed

    Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

    2015-09-01

    Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. PMID:25920687

  3. Regression of a Large Congenital Hepatic Arteriovenous Malformation

    PubMed Central

    Zakaria, Rania; Mostafa, Fatma Alzahraa; Hamza, Hala

    2015-01-01

    Congenital hepatic arteriovenous malformations are rarely seen in association with persistent neonatal pulmonary hypertension. We report the case of a full-term female newborn who presented with heart failure and respiratory distress soon after birth. Echocardiographic investigation revealed severe persistent pulmonary hypertension and patent ductus arteriosus. Here we report spontaneous regression in size of both the feeder vessel and the vascular bed of the congenital hepatic arteriovenous malformation. We postulate that our conservative use of oral heart failure therapy, in the form of diuretic agents and captopril, decreased the congestion and diameter of the affected vessels. PMID:25873838

  4. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  5. Arteriovenous malformation within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma

    PubMed Central

    Lai, Grace; Muller, Karra A.; Carter, Bob S.; Chen, Clark C.

    2015-01-01

    Background: The co-occurrence of intracranial arteriovenous malformations (AVMs) and cerebral neoplasms is exceedingly rare but may harbor implications pertaining to the molecular medicine of brain cancer pathogenesis. Case Description: Here, we present a case of de novo AVM within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma (WHO Grade III) and review the potential contribution of this mutation to aberrant angiogenesis as an interesting case study in molecular medicine. Conclusion: The co-occurrence of an IDH1 mutated neoplasm and AVM supports the hypothesis that IDH1 mutations may contribute to aberrant angiogenesis and vascular malformation. PMID:26167373

  6. Balloon-Occluded Retrograde Transvenous Embolization of a Pelvic Arteriovenous Malformation

    SciTech Connect

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke; Sumi, Seiya; Ogata, Ichiro; Takahashi, Mutsumasa; Kawakami, Shigeo; Ueda, Shohichi

    1999-11-15

    We successfully performed embolization therapy for a pelvic arteriovenous malformation by the retrograde transvenous approach using a liquid embolic material. This malformation was unique in that it had a single draining vein, which allowed this technique employing an occlusion balloon.

  7. A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome

    PubMed Central

    Gopal, Balaji; Keshava, Shyamkumar N; Selvaraj, Deepak

    2015-01-01

    There are many overgrowth syndromes described in the literature. Few are associated with vascular malformations. We describe a rare, newly described syndrome with features of overgrowth and vascular malformations. PMID:25709171

  8. ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

    EPA Science Inventory

    A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

  9. 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. PMID:22000870

  10. Syringomyelia (SM)

    MedlinePLUS

    ... a Chiari Malformation; spinal cord injury (post-traumatic SM), tumors, and arachnoiditis are other causes; exactly why ... symptoms, surgery is usually recommended • For Chiari related SM, decompression surgery is used to create more space ...

  11. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases.

    PubMed

    Min, Hong-Gi; Kim, Su-Gwan; Oh, Ji-Su; You, Jae-Seek

    2015-12-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  12. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  13. An update on the management of Budd-Chiari syndrome: the issues of timing and choice of treatment.

    PubMed

    Mancuso, Andrea

    2015-03-01

    Because of the rarity of Budd-Chiari syndrome (BCS), the flow chart of management comes from expert opinion and is not evidence based. To report an update on the management of BCS. I performed a review on published papers on BCS in an attempt to speculate in particular on the timing and the choice of treatment. Some authors suggest that the management of BCS should follow a step-wise strategy. Anticoagulation and medical therapy should be the first-line treatment. Revascularization or transjugular intrahepatic portosystemic shunt should be performed in case of no response to medical therapy. Orthotopic liver transplant should be used as a rescue therapy. The biggest criticism of this flow chart is that it is based on the assumption that patients with BCS should receive further treatment only when hemodynamic effects on portal hypertension become clinically evident, thus paying little attention to the chronic ischemic liver damage effects on hepatic function and to the possibility of preventing liver failure by relieving impaired hepatic veins outflow. Recently, I presented a proposal of a new algorithm for the management of BCS, in which medical therapy alone is suggested only for patients without any sign of portal hypertension, irrespective of whether early interventional treatment is suggested when either any symptoms or signs of portal hypertension appear, with the aim of preventing hepatic fibrosis development, disease progression, and finally improving outcome. Given that the benefit of treatments for BCS is not under debate, guidelines for the management of BCS should be re-evaluated and updated, with particular attention to both the timing and the choice of treatment. PMID:25590783

  14. Commentary: RCT of Optimal Dose Methylphenidate in Children and Adolescents with Severe ADHD and ID--A Reply to Arnold (2013)

    ERIC Educational Resources Information Center

    Simonoff, Emily; Taylor, Eric; Baird, Gillian; Bernard, Sarah

    2013-01-01

    The commentary by Arnold (2013) raises a number of interesting issues and speculations about the action of methylphenidate in children with intellectual disability (ID) and associated neurodevelopmental disorders, such as autism spectrum disorders. In our article (Simonoff et al., 2013), we were careful to stick closely to the statistical analysis…

  15. Constructing Masculinities under Thomas Arnold of Rugby (1828-1842): Gender, Educational Policy and School Life in an Early-Victorian Public School

    ERIC Educational Resources Information Center

    Neddam, Fabrice

    2004-01-01

    Thomas Arnold has been a controversial figure for historians of the English public schools. He has been depicted either as the great reformer of these famous institutions or as an ordinary head master who did not do better than his contemporary colleagues. This article seeks to continue the debate about the assessment of his head master-ship by…

  16. Commentary: RCT of Optimal Dose Methylphenidate in Children and Adolescents with Severe ADHD and ID--A Reply to Arnold (2013)

    ERIC Educational Resources Information Center

    Simonoff, Emily; Taylor, Eric; Baird, Gillian; Bernard, Sarah

    2013-01-01

    The commentary by Arnold (2013) raises a number of interesting issues and speculations about the action of methylphenidate in children with intellectual disability (ID) and associated neurodevelopmental disorders, such as autism spectrum disorders. In our article (Simonoff et al., 2013), we were careful to stick closely to the statistical analysis…

  17. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    ERIC Educational Resources Information Center

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  18. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  19. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. PMID:26667632

  20. Appendicitis Presenting Concurrently with Cecal Arteriovenous Malformation in a Child

    PubMed Central

    Rosenberg, Eric; Portalatin, Manuel E; Fakhoury, Elias; Madlinger, Robert V

    2015-01-01

    Acute appendicitis is a commonly diagnosed surgical problem in the pediatric population. Arterio-venous malformations (AVM) of the colonic tract are rarely reported in the pediatric literature. A 13-year old boy who presented with acute appendicitis with concurrent cecal AVM is reported in whom appendectomy was done. Later on radiological investigations AVM was confirmed. PMID:26623251

  1. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

    Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

    2014-04-01

    Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23543731

  2. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

    Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

    2013-01-01

    Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491

  3. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  4. LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE

    EPA Science Inventory

    C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...

  5. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  6. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  7. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  8. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (?2 or 3:1), is predominantly unilateral (?70-90%), and more often involves the right ear (?60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. PMID:26667631

  9. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  10. Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal.

    PubMed

    Schröder, S; Schmidt, M J; Preis, S; Klumpp, S; Köhler, K; Kuchelmeister, K; Herden, C

    2013-01-01

    Neurological cases, especially in foals, are rare in the daily practical work. The most common causes are traumata and infectious diseases of the central nervous system (CNS). This case report provides further insights into the wide spectrum of possible neuropathological lesions by detailing a complex malformation with unilateral neurological signs that occurred later post natum. Thus, clinicians should also be aware of malformations in case of respective neurological patients. A Hanoverian foal was presented with progressive ataxia. General and blood examination revealed no further alterations. By neurologic examination, a unilateral hypermetria was diagnosed and a cysternography of the head was performed. A cerebellar malformation was assumed and the foal was euthanized due to poor prognosis. At necropsy, a unilateral absence of a cerebellar hemisphere and vermis accompanied by contralateral malformation of the mesencephalon was diagnosed. The missing areas of the right cerebellar hemisphere were replaced by a cystic formation. The left part of the mesencephalic lamina quadrigemina was reduced in size and the corpus callosum was hypoplastic. Additional microscopical findings were most obvious near the cyst formation and included angiofibrosis in remaining cerebellar and mesencephalic parenchyma and leptomeninges, heterotopia of cerebellar neurons, sclerosis in cerebellar cortex, focal proliferation of meningeal cells and mild mononuclear perivascular infiltrates. Occassional irregular neuronal arrangement in the mesencephalon was also present. Infectious agents such as Borna disease virus, rabies virus, and equine herpesvirus were not detected. Therefore, the complex malformation in this foal might have been caused by a destructive, possibly ischemic event, or could represent a sequel of a primary retrocerebellar cyst with accompanying compression of adjacent parenchyma. PMID:23608891

  11. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 2: Basal ganglia and thalamus arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Sheehan, Jason P

    2016-02-01

    The aim of this review is to critically analyze the outcomes following stereotactic radiosurgery (SRS) for arteriovenous malformations (AVM) of the basal ganglia and thalamus. The management of these deep-seated lesions continues to challenge neurosurgeons. Basal ganglia and thalamic AVM show a higher risk of hemorrhage, and an associated devastating morbidity and mortality, as compared to AVM in more superficial locations. Any of the currently available treatment modalities may fail or result in iatrogenic neurologic deterioration. Recent evidence from A Randomized Trial of Unruptured Brain AVM (ARUBA) further deters aggressive approaches that carry a significant risk of treatment-related adverse events. Microsurgical resection, endovascular embolization and SRS all play a role in the treatment of AVM. SRS is an effective therapeutic option for AVM of the thalamus and basal ganglia that are deemed high risk for resection. SRS offers acceptable obliteration rates, with generally lower risks of hemorrhage occurring during the latency period compared to the AVM natural history. Considering that incompletely obliterated lesions still harbor the potential for rupture, additional treatments such as repeat SRS and microsurgical resection should be considered when complete obliteration is not achieved by an initial SRS procedure. Patients with AVM of the basal ganglia and thalamus require continued clinical and radiologic observation and follow-up after SRS, even after angiographic obliteration has been confirmed. PMID:26732284

  12. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 1: Brainstem arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Chen, Ching-Jen; Sheehan, Jason P

    2016-02-01

    The management of brainstem arteriovenous malformations (AVM) are one of the greatest challenges encountered by neurosurgeons. Brainstem AVM have a higher risk of hemorrhage compared to AVM in other locations, and rupture of these lesions commonly results in devastating neurological morbidity and mortality. The potential morbidity associated with currently available treatment modalities further compounds the complexity of decision making for affected patients. Stereotactic radiosurgery (SRS) has an important role in the management of brainstem AVM. SRS offers acceptable obliteration rates with lower risks of hemorrhage occurring during the latency period. Complex nidal architecture requires a multi-disciplinary treatment approach. Nidi partly involving subpial/epipial regions of the dorsal midbrain or cerebellopontine angle should be considered for a combination of endovascular embolization, micro-surgical resection and SRS. Considering the fact that incompletely obliterated lesions (even when reduced in size) could still cause lethal hemorrhages, additional treatment, including repeat SRS and surgical resection should be considered when complete obliteration is not achieved by first SRS. Patients with brainstem AVM require continued clinical and radiological observation and follow-up after SRS, well after angiographic obliteration has been confirmed. PMID:26740034

  13. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  14. Congenital pulmonary malformations in pediatric patients: review and update on etiology, classification, and imaging findings.

    PubMed

    Lee, Edward Y; Dorkin, Henry; Vargas, Sara O

    2011-09-01

    Congenital pulmonary malformations represent a heterogeneous group of developmental disorders affecting the lung parenchyma, the arterial supply to the lung, and the lung's venous drainage. In both asymptomatic and symptomatic pediatric patients with congenital pulmonary malformations, the diagnosis of such malformations usually requires imaging evaluation, particularly in cases of surgical lesions for preoperative assessment. The goal of this article is to review the current imaging techniques for evaluating congenital pulmonary malformations and their characteristic imaging findings, which can allow differentiation among various congenital pulmonary malformations in pediatric patients. PMID:21889015

  15. cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

    The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

  16. Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

    PubMed

    Uysal, Berfin; Dönmez, Osman; Uysal, Fahrettin; Akac?, Okan; Vuru?kan, Berna Aytaç; Berdeli, Afig

    2015-02-01

    Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. PMID:25711261

  17. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  18. Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

    PubMed Central

    Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

  19. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  20. Arteriovenous malformation of the mandible and parotid gland

    PubMed Central

    Shailaja, S R; Manika; Manjula, M; Kumar, L V

    2012-01-01

    Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511

  1. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    PubMed Central

    Mouchtouris, Nikolaos; Chitale, Ameet; Starke, Robert M.; Tjoumakaris, Stavropoula I.; Rosenwasser, Robert H.; Jabbour, Pascal M.

    2015-01-01

    Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics. PMID:25629087

  2. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

    Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

  3. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

    The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

  4. Arteriovenous malformations of the brain: natural history in unoperated patients.

    PubMed Central

    Crawford, P M; West, C R; Chadwick, D W; Shaw, M D

    1986-01-01

    Two-hundred and seventeen patients from a total population of 343 patients with arteriovenous malformations, were managed without surgery. Follow up was for a mean of 10.4 years. Using life survival analyses, there was a 42% risk of haemorrhage, 29% risk of death, 18% risk of epilepsy and a 27% risk of having a neurological handicap by 20 years after diagnosis in unoperated patients. PMID:3958721

  5. [Congenital malformations of the atlas: classification and clinical significance].

    PubMed

    Villas, C; Vides, R E; Yáñez, R

    1990-01-01

    A classification of congenital anomalies of atlas is proposed in order to make a systematic approach to its radiological diagnosis. Atlas is divided in four areas (posterior arch, union of posterior arch and articulation, articulation and anterior arch) for isolated malformations and two more for occipito-atloid and atlo-axoid anomalies. The common anomalies and its possible clinical relevance in each area are described. PMID:2101495

  6. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location. PMID:15277641

  7. Coexistence of an intracranial meningioma and an arteriovenous malformation.

    PubMed

    Honeybul, Stephen

    2015-01-01

    The occurrence of a primary brain tumour in association with a cerebral arteriovenous malformation (AVM) is a recognized but rarely reported finding. A 56-year-old female presented following a single tonic clonic seizure. Radiological investigations revealed a left posterior frontal parafalcine meningioma and a left parietal AVM. Both were uneventfully resected. Whether there is a causal relationship is unproven, however, this case report might lend some support to this hypothesis given the relatively close proximity of the two lesions. PMID:26060239

  8. Multimodality intraoperative neurophysiological monitoring during Onyx embolization of cerebrovascular malformations.

    PubMed

    Deshaies, Eric M; Singla, Amit; Allott, Geoffrey; Villwock, Mark R; Li, Fenghua; Gorji, Reza

    2015-03-01

    General anesthesia prohibits neurological examination during embolization of cerebrovascular malformations when provocative testing prior to pedicle occlusion is needed. Intraoperative neurophysiological monitoring (IONM) has the potential to fill this gap but remains relatively unexplored. We conduct a retrospective review of consecutive patients with cerebrovascular malformations treated with Onyx (ethylene vinyl alcohol copolymer, dissolved in dimethyl sulfoxide) embolization under general anesthesia with IONM from 2009 to 2012. Somatosensory evoked potentials (SSEPs), transcranial motor evoked potentials (TcMEPs), visual evoked potential (VEPs), auditory brainstem response (ABR), and electroencephalography (EEG) were used selectively in all patients depending on the location of the malformation. Provocative testing combined with IONM was performed in 28 patients over 75 sessions. Three patients demonstrated changes in TcMEPs or ABR during provocative testing, which halted the planned embolization. Two patients demonstrated changes in baseline SSEPs after embolization, despite normal IONM during provocative testing, correlating with postprocedural contralateral weakness. Six patients developed visual deficits after arterial occlusion despite unchanged VEPs and occipital EEG during provocative testing and embolization. We therefore conclude that the sensitivity of TcMEPs and SSEPs is preferable to EEG, and we strongly caution against relying on occipital recorded VEPs to predict visual deficits. PMID:26036117

  9. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

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

  10. [Surgical and endovascular treatment of lung arteriovenous malformations].

    PubMed

    Parshin, V D; Biriukov, Iu V; Puretski?, M V; Parshin, V V; Ippolitov, L I; Khuan, Iu

    2013-01-01

    The article summarizes the experience of surgical treatment of 47 patients (1964-2012 yy) with lung arteriovenous malformations (LAVM). Men were 29, women - 18. Age varied from 6 to 49 years. 20 patients had solitary lung arteriovenous malformations, the rest 27 had multiple malformations. Before 1983 the main diagnostic means was the angiopulmonography, since that the multyspiral computed tomography has been used. Before 1980 all patients received major surgical treatment, i.e., lobectomy (n=29), pneumonectomy (n=1) and 1 explorative thoracotomy. After 1980 the endovascular embolisation under the X-ray control took the leading place among the treatment options for these patients. 11 patients had 17 embolisations; the lung resection was performed only in 3 cases. All negative outcomes (4 lethal and 8 complications) were registered before the 1980. The were no lethal outcomes after the endovascular embolisation; only 3 patients had complications. All patients demonstrated satisfactory and good outcomes, considering objective parameters and quality of life early and long after the endovascular embolisation. PMID:24300571

  11. The incidence of congenital malformations in children with cancer.

    PubMed

    Mutafo?lu-Uysal, Kamer; Günes, Dilek; Tüfekçi, Ozlem; Kalelihan-Cankal, Aydan; Sarialio?lu, Faik; Olgun, Nur

    2009-01-01

    We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country. PMID:20112599

  12. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  13. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice

    PubMed Central

    Bravi, Luca; Rudini, Noemi; Cuttano, Roberto; Giampietro, Costanza; Maddaluno, Luigi; Ferrarini, Luca; Adams, Ralf H.; Corada, Monica; Boulday, Gwenola; Tournier-Lasserve, Elizabeth; Dejana, Elisabetta; Lampugnani, Maria Grazia

    2015-01-01

    Cerebral cavernous malformation (CCM) is a disease of the central nervous system causing hemorrhage-prone multiple lumen vascular malformations and very severe neurological consequences. At present, the only recommended treatment of CCM is surgical. Because surgery is often not applicable, pharmacological treatment would be highly desirable. We describe here a murine model of the disease that develops after endothelial-cell–selective ablation of the CCM3 gene. We report an early, cell-autonomous, Wnt-receptor–independent stimulation of β-catenin transcription activity in CCM3-deficient endothelial cells both in vitro and in vivo and a triggering of a β-catenin–driven transcription program that leads to endothelial-to-mesenchymal transition. TGF-β/BMP signaling is then required for the progression of the disease. We also found that the anti-inflammatory drugs sulindac sulfide and sulindac sulfone, which attenuate β-catenin transcription activity, reduce vascular malformations in endothelial CCM3-deficient mice. This study opens previously unidentified perspectives for an effective pharmacological therapy of intracranial vascular cavernomas. PMID:26109568

  14. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  15. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  16. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

    Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

  17. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  18. Transjugular intrahepatic portosystemic shunt creation using a three-dimensional fluoroscopy guidance system in patients with the Budd-Chiari syndrome

    PubMed Central

    Cura, Marco; Shaw, Cathryn J.; Rees, Chet R.

    2015-01-01

    When performed for Budd-Chiari syndrome (BCS), transjugular intrahepatic portosystemic shunt (TIPS) creation can be technically difficult due to hepatic congestion and asymmetric hypertrophy. We present three female patients with decompensated BCS in whom TIPS were created using a three-dimensional fluoroscopy guidance system. On a dedicated workstation using three-dimensional volumes of computed tomography imaging, a virtual needle path was created by the operator extending from the needle entry point (hepatic vein stump or inferior vena cava) to the target portal vein. Subsequently, the virtual needle path was overlaid on the fluoroscopy image for guidance of portal venous cannulation. This technology can be used for TIPS procedures in patients with BCS and other complex TIPS cases, as it may help delimit the trajectory of the needle pass and optimally result in more efficient procedures with decreased radiation dose. PMID:26424949

  19. JAK2+ Essential Thrombocythemia in a Young Girl With Budd-Chiari Syndrome: Diagnostic and Therapeutic Considerations When Adult Disease Strikes the Young.

    PubMed

    Wigton, Julie C; Tersak, Jean M

    2016-01-01

    A 12-year-old female with Budd-Chiari syndrome underwent liver transplant and subsequent splenectomy. Her platelet count began to rise postoperatively after previous normal values. JAK2V617F-positive essential thrombocythemia (ET) was diagnosed. This case demonstrates that the diagnosis of ET should be considered in the face of normal platelet counts and included on the differential diagnosis for pediatric patients. With this population in mind, we review the current literature on long-term use of platelet-lowering agents. We conclude that it is reasonable to use anagrelide as a first-line treatment for ET diagnosed according to the World Health Organization (WHO) system. In cases where WHO criteria do not result in a definitive diagnosis or when a patient experiences thrombotic events despite anagrelide therapy, hydroxyurea may be utilized as a first-line agent or as an adjunct. Further study in this area is warranted. PMID:26523382

  20. Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases

    PubMed Central

    Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.

    2013-01-01

    Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication. PMID:23960313

  1. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers.

    PubMed

    Dias, Mark; Partington, Michael

    2015-10-01

    The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment. PMID:26416933

  2. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  3. Arnold Durig (1872-1961): life and work. An Austrian pioneer in exercise and high altitude physiology.

    PubMed

    Burtscher, Martin; Gnaiger, Erich; Burtscher, Johannes; Nachbauer, Werner; Brugger, Andreas

    2012-09-01

    Arnold Durig (1872-1961) grew up in the Austrian mountains in the period when intense exploration of the Alps started. As an enthusiastic mountaineer, scientist, and physician, he became one of the pioneers exploring physiological and pathophysiological aspects of humans sojourning to high altitudes. At the beginning of the 20(th) century, Durig was one of the great physiologists whose knowledge covered the whole field of physiology. Durig founded a renowned School and his students spread all over the world. He stayed in close contact with many colleagues and famous scientists, such as Albert Einstein and Sigmund Freud. Although he was an extremely productive and acknowledged physiologist and teacher at that time, his work and life are not very well known at the beginning of the 3(rd) millennium, even by high altitude physiologists. Thus, this article provides an overview on Durig's life and work, highlighting the most important scientific studies he performed at moderate and high altitudes, in an attempt to provide a few links to the development of high altitude research in the late 19(th) and early 20(th) centuries, complemented by some comments from a current point of view. PMID:22994523

  4. Pilot-scale testing of in situ vitrification of Arnold Engineering Development Center Site 10 contaminated soils

    SciTech Connect

    Timmerman, C.L.; Peterson, M.E. )

    1990-02-01

    In situ vitrification (ISV), was initially developed to demonstrate a potential technology for disposal of soil contaminated with transuranic waste at the Hanford Site in southeastern Washington. This report presents evidence that ISV also has applicability to Arnold Engineering Development Center (AEDC) contaminated soils, which are contaminated with fuel oils and heavy metals from fire training exercises. This report presents the results of a pilot-scale ISV test conducted for Martin Marietta Energy Systems and AEDC. The primary objective of this study was to verify the applicability of the ISV process to soils contaminated with fuel oils, heavy metals, and other organics. To accomplish this objective, a pilot-scale ISV test was performed on a portion of the Site 10 Fire Training Area soil. Testing results determined the destruction of organics and the retention of inorganics in the vitrified product. Fractional release of contaminants to the off-gas treatment system and leaching characteristics of the vitrified materials were also determined. 19 refs., 28 figs., 7 tabs.

  5. Emerging role of contrast-enhanced MRI in diagnosing vascular malformations.

    PubMed

    Turley, Ryan S; Lidsky, Michael E; Markovic, Jovan N; Shortell, Cynthia K

    2014-07-01

    Vascular malformations comprise a diverse and rare group of lesions which generally pose a formidable treatment challenge. Requisite for optimal surgical planning are imaging modalities capable of delineating involved anatomy and malformation flow characteristics. In this regard, we and others have purported the advantages of contrast-enhanced MRI. Here, we review the current body of literature regarding the emerging of role of contrast enhanced MRI for the management of vascular malformations. PMID:25301311

  6. Arteriovenous malformation of the forearm as a result of a persistent median artery.

    PubMed

    Krishnamoorthy, L; Murison, M S; Sykes, P J

    1998-12-01

    Most arteriovenous malformations usually arise from pre-existing named vessels. We report an unusual variant of an arteriovenous malformation. An 18-year-old man presented with a painful swelling of the right forearm. Arteriograms suggested branches of the anterior interosseous artery were feeding the malformation. Operative findings however, revealed the presence of a persistent median artery, which was contributing branches to the swelling. PMID:9888694

  7. A syndromal and an isolated form of uterine arteriovenous malformations: two case-reports.

    PubMed

    Geerinckx, I; Willemsen, W; Hanselaar, T

    2001-12-10

    Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions were found in conjunction with other congenital malformations suggesting the diagnosis of hemihyperplasia/lipomatosis syndrome. Etiology, symptoms, diagnostic and therapeutic work-up are discussed; pathological findings are illustrated. PMID:11728664

  8. Aortic Runoff as a Sign of Intracranial Arteriovenous Malformation: Report of Two Cases

    PubMed Central

    Moradian, Maryam; Nokhostin-Davari, Paridokht; Merajie, Mahmood; Pouraliakbar, Hamid-Reza

    2013-01-01

    Background Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. Case Presentation We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease. Conclusion Precise echocardiography revealed the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis. PMID:23724190

  9. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered. PMID:19886894

  10. Arteriovenous malformations in hereditary haemorrhagic telangiectasia: looking beyond ALK1-NOTCH interactions.

    PubMed

    Peacock, Hanna M; Caolo, Vincenza; Jones, Elizabeth A V

    2016-02-01

    Hereditary haemorrhagic telangiectasia (HHT) is characterized by the development of arteriovenous malformations-enlarged shunts allowing arterial flow to bypass capillaries and enter directly into veins. HHT is caused by mutations in ALK1 or Endoglin; however, the majority of arteriovenous malformations are idiopathic and arise spontaneously. Idiopathic arteriovenous malformations differ from those due to loss of ALK1 in terms of both location and disease progression. Furthermore, while arteriovenous malformations in HHT and Alk1 knockout models have decreased NOTCH signalling, some idiopathic arteriovenous malformations have increased NOTCH signalling. The pathogenesis of these lesions also differs, with loss of ALK1 causing expansion of the shunt through proliferation, and NOTCH gain of function inducing initial shunt enlargement by cellular hypertrophy. Hence, we propose that idiopathic arteriovenous malformations are distinct from those of HHT. In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT. A nuanced understanding of the precise molecular mechanisms underlying idiopathic and HHT-associated arteriovenous malformations will allow for development of targeted treatments for these lesions. PMID:26645978

  11. [Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

    PubMed

    Doray, Bérénice

    2014-01-01

    Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects. PMID:24698188

  12. Congenital bronchopulmonary vascular malformations, “sequestration” and beyond

    PubMed Central

    Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

    2015-01-01

    Congenital bronchopulmonary vascular malformations (BPVMs) include a broad spectrum of disorders that involve abnormalities in the form of disruptions of normal communication and/or presence of abnormal communication between one or more of the three main systems of the lung, namely, the airways, arteries, and veins. The establishment of abnormal communications by means of small openings or anastomoses is termed as malinosculation. The aim of this pictorial essay is to illustrate the imaging appearances of the various types of pulmonary malinosculation. PMID:25709164

  13. Vasospasm after intraventricular hemorrhage caused by arteriovenous malformation

    PubMed Central

    Tseng, Wei-Lung; Tsai, Yi-Hsin

    2015-01-01

    Intraventricular hemorrhage (IVH) induced vasospasm is rare in clinical practice. We report a case with vasospasm 10 days after IVH due to thalamic bleeding from an arteriovenous malformation. The vasospasm was so severe that transarterial embolization failed. Follow-up angiography could not reveal the vascular lesion and spontaneous thrombosis was considered. The discussion includes literature review and possible mechanism of such phenomenon. IVH-related vasospasm is rare but should always be kept in mind. Early detection with proper treatment provides better clinical outcome in such cases. PMID:25972942

  14. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  15. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation.

    PubMed

    Zhang, Rui; Zhu, Wan; Su, Hua

    2016-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  16. Pulmonary arteriovenous malformation embolization: how we do it.

    PubMed

    Greben, Craig R; Setton, Avi; Putterman, Daniel; Caplin, Drew; Lenner, Roberta; Gandras, Eric J

    2013-03-01

    We report our experience with an embolization technique that allows safe, controllable exclusion of pulmonary arteriovenous malformations using detachable coils, a single venous access site, coaxial catheter guidance, and 1 or 2 microcatheters. This technique is particularly useful when treating central lesions with a short feeding artery and when high flow increases the risk of coil migration and nontarget embolization. It affords precise placement and repositioning of coils prior to detachment. The technique facilitates safe and successful endovascular closure of these challenging lesions. PMID:23499130

  17. The anterior interhemispheric approach to a third ventricular cavernous malformation.

    PubMed

    Martirosyan, Nikolay L; Kalani, M Yashar S; Nakaji, Peter; Spetzler, Robert F

    2016-01-01

    The anterior interhemispheric approach is a workhorse for treatment of lesions in the third ventricle. In this case, we demonstrate the utility of this approach for resecting a complex third ventricular cavernous malformation. We discuss patient positioning, optimal location of the craniotomy, and surgical resection techniques for safe removal of these lesions. We also demonstrate the importance of gravity retraction using the falx to prevent injury to the dominant frontal lobe. The video can be found here: https://youtu.be/38woc28er7M . PMID:26722693

  18. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  19. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  20. The biological resolution of malformations of the central nervous system.

    PubMed

    McLone, D G

    1998-12-01

    It has been known for years that the assembly of the nervous system is under genetic control. During the last 10 years, the genes that direct the formation of the brain and spinal cord have begun to be discovered at an amazing pace. Mutations in the fruit fly and advances in molecular genetics have led the way. Gene mutations that cause many of the malformations of the human brain and spinal cord are now known. This has many physician-scientists hoping that an understanding of cause might lead to cure. PMID:9848852

  1. Transvenous Embolization of a Ruptured Deep Cerebral Arteriovenous Malformation

    PubMed Central

    Pereira, V.M.; Marcos-Gonzalez, A.; Radovanovic, I.; Bijlenga, P.; Narata, A.P.; Moret, J.; Schaller, K.; Lovblad, K.O.

    2013-01-01

    Summary Ruptured cerebral arteriovenous malformations (AVMs) usually require treatment to avoid re-bleeding. Depending on the angioarchitecture and center strategy, the treatment can be surgical, endovascular, radiosurgical or combined methods. The classic endovascular approach is transarterial, but sometimes it is not always applicable. The transvenous approach has been described as an alternative for the endovascular treatment of small AVMs when arterial access or another therapeutic method is not possible. This approach can be considered when the nidus is small and if there is a single draining vein. We present a technical note on a transvenous approach for the treatment of a ruptured AVM in a young patient. PMID:23472720

  2. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ? 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  3. Hydrogeology and simulation of ground-water flow at Arnold Air Force Base, Coffee and Franklin counties, Tennessee

    USGS Publications Warehouse

    Haugh, C.J.; Mahoney, E.N.

    1994-01-01

    The U.S. Air Force at Arnold Air Force Base (AAFB), in Coffee and Franklin Counties, Tennessee, is investigating ground-water contamination in selected areas of the base. This report documents the results of a comprehensive investigation of the regional hydrogeology of the AAFB area. Three aquifers within the Highland Rim aquifer system, the shallow aquifer, the Manchester aquifer, and the Fort Payne aquifer, have been identified in the study area. Of these, the Manchester aquifer is the primary source of water for domestic use. Drilling and water- quality data indicate that the Chattanooga Shale is an effective confining unit, isolating the Highland Rim aquifer system from the deeper, upper Central Basin aquifer system. A regional ground-water divide, approximately coinciding with the Duck River-Elk River drainage divide, underlies AAFB and runs from southwest to northeast. The general direction of most ground-water flow is to the north- west or to the northwest or to the southeast from the divide towards tributary streams that drain the area. Recharge estimates range from 4 to 11 inches per year. Digital computer modeling was used to simulate and provide a better understanding of the ground-water flow system. The model indicates that most of the ground-water flow occurs in the shallow and Manchester aquifers. The model was most sensitive to increases in hydraulic conductivity and changes in recharge rates. Particle-tracking analysis from selected sites of ground-water contamination indicates a potential for contami- nants to be transported beyond the boundary of AAFB.

  4. Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

    PubMed Central

    Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

    2013-01-01

    Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

  5. Cerebral cavernous malformation: new molecular and clinical insights

    PubMed Central

    Revencu, N; Vikkula, M

    2006-01-01

    Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological problems, such as headaches, seizures, focal neurological deficits, and cerebral haemorrhages. CCMs can occur sporadically or as an autosomal dominant condition with variable expression and incomplete penetrance. Familial forms have been linked to three chromosomal loci, and loss of function mutations have been identified in the KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3 genes. Recently, many new pieces of data have been added to the CCM puzzle. It has been shown that the three CCM genes are expressed in neurones rather than in blood vessels. The interaction between CCM1 and CCM2, which was expected on the basis of their structure, has also been proven, suggesting a common functional pathway. Finally, in a large series of KRIT1 mutation carriers, clinical and neuroradiological features have been characterised. These data should lead to more appropriate follow up, treatment, and genetic counselling. The recent developments will also help to elucidate the precise pathogenic mechanisms leading to CCM, contributing to a better understanding of normal and pathological angiogenesis and to the development of targeted treatment. PMID:16571644

  6. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.

    PubMed

    Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A S; Duhoux, François P; Wassef, Michel; Enjolras, Odile; Mulliken, John B; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M; Vikkula, Miikka

    2013-02-01

    Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson's two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1-1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

  7. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

    In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs), which are renowned for their unique morphological and behavioral characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signaling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area. PMID:25729350

  8. Free radicals and antioxidants status in neonates with congenital malformation

    PubMed Central

    Mukhopadhyay, Bedabrata; Gongopadhyay, Ajay Narayan; Rani, Anjali; Gavel, Roshni; Mishra, Surendra Pratap

    2015-01-01

    Background: Several studies using animal models have shown that oxidative stress during pregnancy may play an important role in causing birth defects. Congenital anomalies affect an estimated 270,000 newborns who die during the first 28 days of life every year from different birth defects. Hence, at present many research works are going on to reduce the infant mortality from congenital anomaly.[1] Objective: The objective was to measure the oxidant and antioxidant level in the serum of newborn babies with the congenital anomaly and compare these levels with age and sex matched normal neonates. This is to identify any role of oxidative stress in the causation of congenital anomaly. Materials and Methods: This case-control study included 159 participants: 106 newborns with the congenital anomaly and 53 healthy newborns. The markers of oxidative stress like serum malondialdehyde (MDA) level, protein carbonyl (PC) level, and the activity of antioxidants such as Vitamin C, glutathione were measured in both cases (neonates with congenital anomaly) and controls (normal healthy neonates). These parameters were statistically compared. Results: MDA levels and PC levels were significantly higher (P < 0.0001), and Vitamin C and reduced glutathione levels were significantly lower (P < 0.0001), in newborns with congenital malformation than in healthy newborns. Conclusions: Increased lipid peroxidation and protein carbonylation might play an important role in the pathogenesis of congenital anomaly. Impairment of the free radical/antioxidant balance is leading to increased free radical damage in neonates with congenital malformation. PMID:26628809

  9. Hemorrhage risk and clinical features of multiple intracranial arteriovenous malformations.

    PubMed

    Boone, Christine E; Caplan, Justin M; Yang, Wuyang; Ye, Xiaobu; Colby, Geoffrey P; Coon, Alexander L; Tamargo, Rafael J; Huang, Judy

    2016-01-01

    The aim of this report is to examine clinical characteristics, treatment strategies, and annual hemorrhage incidence rate for patients with multiple arteriovenous malformations (MAVM). The PubMed and EMBASE databases and the arteriovenous malformations (AVM) database at The Johns Hopkins Hospital were searched to identify patients with MAVM. Data related to demographics, clinical features, management, and treatment outcomes were analyzed with descriptive statistics. Thirty-eight patients met the inclusion criteria. The annual hemorrhage incidence rate was 6.7%. Surgical intervention remained the most common single-modality treatment from 1949-2011. Between 1990 and 2011, multiple-modality treatment strategies (36% of cases) were employed more frequently. The most common presenting features were neurological deficit (74%) and hemorrhage (63%). In patients undergoing staged treatment of MAVM, hemorrhage of an untreated nidus (n=5), visualization of a new nidus (n=9), and disappearance of an untreated nidus (n=2) were observed. Limitations of this study include small sample size and reporting bias. The annual hemorrhage incidence rate for MAVM patients was approximately two- to three-fold greater than the reported annual hemorrhage rates for solitary AVM. Combining different treatment modalities has become the most common management strategy. The potential instability of remaining nidi with staged or incomplete treatment necessitates close follow-up in these cases. PMID:26461910

  10. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  11. A tortuous proximal urethra in urorectal septum malformation sequence?

    PubMed

    Lin, Henry J; Lugo, Hector; Tran, Thu; Tovar, Jason P; Corral, Julia; Zork, Noelia M; Smith, Lynne M; French, Samuel W; Barajas, Luciano

    2014-05-01

    We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence. PMID:24665006

  12. PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PubMed Central

    Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P.; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

    2014-01-01

    Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype. PMID:25354366

  13. Historical aspects of the study of malformations in The Netherlands.

    PubMed

    Baljet, B; Oostra, R J

    1998-05-01

    The collection of malformed ("teratological") specimens of man and other mammals of Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), dating from the beginning of the 19th century, continues to function as a central part of the Department of Anatomy and Embryology in the Academic Medical Center at the University of Amsterdam. Recently, many specimens in the collection were reexamined, using radiographic, CT scan, and MRI methods. In order to provide background information concerning Dutch teratological research and anatomical cabinets, some aspects of the history of Dutch morphology during the 17th-19th centuries are briefly described in this paper. Special attention is paid to the scientific work and cabinet of Frederik Ruijsch (1638-1731), who sold this cabinet to Czar Peter the Great; Bernard Siegfried Albinus (1697-1770); Wouter van Doeveren (1733-1783), Andreas Bonn (1738-1818), and Sebald Justinus Brugmans (1763-1819), who sold or donated parts of their collections of malformed specimens to Leiden University; Petrus Camper (1722-1789) and Jan Bleuland (1756-1838), whose collections are still in the Department of Anatomy at Groningen University and the Departments of Anatomy and Pathology of Utrecht University; and Gerard and Willem Vrolik. PMID:9605283

  14. Cavernous malformation of the optic chiasm: Neuro-endoscopic removal

    PubMed Central

    Venkataramana, N. K.; Rao, Shailesh A. V.; Arun, L. N.; Krishna, C.

    2016-01-01

    Cavernous malformations (CMs) arising from the optic nerve and chiasm are extremely rare. In large autopsy series, CMs were estimated to range from 0.02 to 0.13% in the general population. However, with introduction of MRI, these lesions were found more often than previously thought, ranging from 0.2% to 0.4%. Only 29 cases have been reported according to our knowledge. Most patients present with drop in visual acuity and visual field. Although MRI findings of cavernous malformations have been reported, they may not be diagnostic enough. Among the 29 reported, 16 underwent total resection with good results. In some, resection was complicated by damage to the surrounding neural tissue. Surgical removal is the recommended treatment to restore or preserve vision and to eliminate the risk of future hemorrhage. However, the anatomical location and eloquence of nearby neural structures can make these lesions difficult to access and remove. CMs appear to occur in every age group (range 4 months to 84 years mean-34.6 years) ith an approximately equal male to female ratio. They typically present with chiasmal apoplexy, characterized by sudden visual loss, acute headaches, retro orbital pain, and nausea PMID:26889286

  15. Treatment of cerebral arteriovenous malformations: combined neurosurgical and neuroradiologic approach.

    PubMed

    Cromwell, L D; Harris, A B

    1983-01-01

    Experience with 31 intraoperative embolizations performed on 23 patients is reported. The procedure involves the direct injection of embolic material into the main arterial feeders during craniotomy. The combined effort involves the exposure of the lesion at craniotomy, standard arteriotomy, and fluoroscopically monitored intravascular infusion of contrast material followed by the injection of bucrylate (IBCA, Ethicon, Somerville, NJ) mixed with tantalum or Pantopaque into the feeding vessels and into the interstices of the malformation. It was concluded that the procedure significantly diminishes operating time and blood loss for the lesions that were subsequently resected. Fluoroscopy coupled with high-quality stop-frame videotape recording allows a detailed study of the flow characteristics of the malformation so that polymerization time can be regulated appropriately. Follow-up varied from 3 months to 4 1/2 years. There were two deaths related to the procedure and one additional complication of cortical blindness that partially resolved. None of the survivors rebled. Most of the survivors improved. PMID:6410746

  16. Cervicofacial Lymphatic Malformations: A Retrospective Review of 40 Cases

    PubMed Central

    Cho, Byung Chae; Kim, Jae Bong; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Lee, Seok-Jong; Kim, Yong-Sun; Lee, Jong Min; Huh, Seung

    2016-01-01

    Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2–V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM. PMID:26848440

  17. Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations.

    PubMed Central

    Maestri, N E; Beaty, T H; Boughman, J A

    1989-01-01

    Recent data indicate that there is increased risk of congenital cardiovascular malformations (CCVM) within families of probands diagnosed with congenital cardiovascular malformations that are due to altered embryonic blood flow (flow lesions). In the present study, regressive models recently developed by Bonney were used to compare specific models of inheritance and to test for etiologic heterogeneity among three subgroups of 375 flow-lesion families identified by the Baltimore-Washington Infant Study. When all families were analyzed as a single group, the best-fitting model was a simple recessive model with Mendelian transmission; race did not have a significant effect on estimated risk. Separate analyses of families of probands with left heart defects, right heart defects, and ventricular septal defects (VSD) confirmed this simple Mendelian recessive model as the model of choice. However, when race was included as a covariate in these genetic models, there was evidence for significant heterogeneity among the three subgroups. There was an increased risk to relatives of white probands with right heart defects and to relatives of black probands with VSD, while there was no effect of race among relatives of probands with left heart defects. These results strongly suggest that there is etiologic heterogeneity in the control of CCVM among flow-lesion families and that the patterns of familial aggregation differ among the races. PMID:2491014

  18. Anorectal malformations: Definitive management during and beyond adolescence

    PubMed Central

    Sham, Minakshi; Singh, Dasmit; Phadke, Dileep

    2012-01-01

    Aim: To evaluate our results of definitive repair of anorectal malformations in patients with delayed presentation, during and beyond adolescence. Material and Methods: It is a retrospective analysis of all adolescent patients presenting for the first time for definitive repairs and innate patients - colostomy performed during the neonatal period, but who had lost to follow-up. It includes 15 patients (2 male and 13 female) aged from 13 to 32 years. Three well-decompressed female patients were managed by primary anterior sagittal anorectoplasty (ASARP). Twelve patients underwent staged procedures. Five patients (two male and three female) underwent posterior sagittal anorectoplasty (PSARP). The oldest male patient underwent abdominal-PSARP. Results: All of them attained socially acceptable fecal continence at follow-up of 1–4½ years. They are satisfied with the functional and cosmetic outcome of repair of their anomalies. Conclusions: Prospects of fecal continence are good when definitive repair of anorectal malformations is done by an expert, even in the adolescent age group and beyond. PMID:22869978

  19. Grading and surgical planning for intracranial arteriovenous malformations.

    PubMed

    Riina, H A; Gobin, Y P

    2001-01-01

    The treatment of arteriovenous malformations (AVMs) has evolved over the last 40 years. These complex vascular lesions remain among the most difficult lesions to treat. Successful treatment of AVMs of the brain includes extensive preoperative planning, multimodality treatment options, and modern postoperative surgical care. The advent of new technologies, including interventional neuroradiology and radiosurgery, has expanded the range of malformations that can be treated effectively and has had a significant impact on those individuals who manifest this disease process. The purpose of this paper is to describe the current grading technique used by the authors and to explore the preoperative treatment and planning that leads to successful surgical obliteration of these lesions. Some description of preoperative interventions, including radiosurgery and interventional procedures will be mentioned; however, only in the context of how they impact on the surgical treatment of these lesions. In other articles in this edition of Neurosurgical Focus interventional procedures and radiosurgery as treatment adjuncts and as primary therapies will be discussed in greater detail. PMID:16466235

  20. Cardiovascular malformations and organic solvent exposure during pregnancy in Finland

    SciTech Connect

    Tikkanen, J.; Heinonen, O.P.

    1988-01-01

    In order to investigate the possible association between cardiovascular malformations and maternal exposure to organic solvents during the first trimester of pregnancy, 569 cases and 1,052 controls were retrospectively studied. The cases represented all infants with diagnosed cardiovascular malformations born in Finland in 1982-1984, and the controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife using a structured questionnaire. Exposures to organic solvents at work during the first trimester of pregnancy were slightly more prevalent among the mothers of affected infants (10.4%) than among those of controls (7.8%). Logistic regression analysis of exposure to organic solvents showed an adjusted relative odds ratio of 1.3 (95% confidence interval, 0.8-2.2). In the analysis of ventricular septal defect, exposure to organic solvents showed an adjusted relative odds ratio of 1.5 (95% confidence interval, 1.0-3.7).