Sample records for arnold chiari malformation

  1. Arnold-Chiari malformation and nystagmus of skew

    PubMed Central

    Pieh, C.; Gottlob, I.

    2000-01-01

    The Arnold-Chiari malfomation is typically associated with downbeat nystagmus. Eye movement recordings in two patients with Arnold-Chiari malfomation type 1 showed, in addition to downbeat and gaze evoked nystagmus, intermittent nystagmus of skew. To date this finding has not been reported in association with Arnold-Chiari malfomation. Nystagmus of skew should raise the suspicion of Arnold-Chiari malfomation and prompt sagittal head MRI examination.?? PMID:10864619

  2. The relationship between hydrocephalus and Chiari type II malformation in the experimental rat fetuses with Arnold-Chiari malformation.

    PubMed

    Hung, C F

    1986-04-01

    Spina bifida, Chiari type II malformation, cerebral aqueduct stenosis and hydrocephalus are the most frequent association anomalies in the congenital malformation of the central nervous system (Warkany et al., 1958). They are potentially treatable and of clinical importance. But the relationship between hydrocephalus and Chiari type II malformation is still a controversial subject. A single oral dose of 240 mg/kg of ethylenethiourea (ETU) was given to Sprague Dawley (SD) rats on the 11th day of gestation. Fetuses were removed in the 20th day of gestation by cesarean sections; high incidence of spinal dysraphism associated with hindbrain crowding was found in these fetuses. They are similar to Arnold-Chiari malformation in humans. We used these experimental models to analyze the relationship between hydrocephalus and Chiari type II malformation. From the present investigation, no hydrocephalus or cerebral aqueduct stenosis was found in the experimental rat fetuses with the Arnold-Chiari malformation. So we do not consider the hydrodynamic theory that Chiari type II malformation was induced by increasing intracranial pressure in hydrocephalus. Hydrocephalus in the Arnold-Chiari malformation may not be the primary disorder but seems to be caused by plugging the foramen magnum in Chiari type II malformation. So the cerebrospinal fluid in the spinal subarachnoid space can not move upward to the cranial subarachnoid space for absorption to venous return. Cerebral aqueduct stenosis may be secondarily compressed by hydrocephalus and not be the primary development anomaly or acquired occlusion due to gliosis. This is in accord with the theory proposed by Russell and Donald (1935).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3749365

  3. Convergence nystagmus associated with Arnold-Chiari malformation.

    PubMed

    Mossman, S S; Bronstein, A M; Gresty, M A; Kendall, B; Rudge, P

    1990-03-01

    A case of convergence nystagmus associated with an Arnold-Chiari type I malformation is presented. The nystagmus appeared in the absence of fixation, was provoked during Valsalva's maneuver and neck flexion and extension, and attenuated on deep inspiration. Sagittal magnetic resonance images showed that the diameter of the cerebral aqueduct increased with the neck in full flexion and in full extension. Surgical foramen magnum decompression considerably reduced the nystagmus and abolished the postural variation of aqueduct diameter. It is postulated that this nystagmus was due to a combination of mechanical distortion and abnormal transmission of cerebrospinal fluid pressure to the aqueductal region. PMID:2310320

  4. Craniocervical growth collision: another explanation of the Arnold-Chiari malformation and of basilar impression

    Microsoft Academic Search

    M. Roth

    1986-01-01

    Analysis of neuro-cranio-spinal development suggests a cranio-cervical growth conflict as the cause of the Arnold-Chiari malformation and of basilar impression. The ascending course and elongation of the upper cervical nerves associated with the Arnold-Chiari malformation reflects the abnormal, caudo-cranially proceeding growth of the cervical spine. This is the opposite of the normal cranio-caudal direction of growth (which includes the brain)

  5. 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

  6. Etiopathology of Arnold-Chiari Malformation: A Fetal Rat Model of Dysraphism

    Microsoft Academic Search

    G. Corti; T. Manzur; C. Nagle; M. Martinez-Ferro

    2010-01-01

    Objectives: We report an experimental fetal rat model with the aim of comparing two surgical methods used to check Arnold-Chiari Malformation (ACM) by dysraphism. We also wanted to (1) determine which type(s) of ACM akin to human anatomical findings were generated with the model and (2) study whether a cerebrospinal fluid pressure gradient could be responsible for ACM’s etiopathology. Materials

  7. Symptomatic Arnold-Chiari malformation: review of experience with 22 cases.

    PubMed

    Bell, W O; Charney, E B; Bruce, D A; Sutton, L N; Schut, L

    1987-06-01

    Twenty-two patients with closed myelomeningoceles, shunted hydrocephalus, and symptomatic Arnold-Chiari malformations were studied retrospectively. Seventeen of the 22 patients were aged 6 months or younger; five patients were aged 3 to 23 years. Patients in the younger group presented with stridor, apnea, and/or feeding difficulty; those in the older group presented with hemiparesis, quadriparesis, oscillopsia, nystagmus, or opisthotonos. Fourteen of the 17 younger patients underwent surgical decompression of the Arnold-Chiari malformation: 10 within 18 days following the onset of symptoms and four on Day 19 or later. Of the 10 infants with early treatment, five eventually died secondary to continued symptoms and five survived. Of those surviving, three were asymptomatic and two had continuing symptoms but were improved over their preoperative state. Among the four patients undergoing surgery later, two died, one had lessening of stridor, and one had complete relief of symptoms. Of the three infants not undergoing decompression, two died and one eventually became asymptomatic. All five of the older patients underwent decompression and all had complete resolution of their preoperative symptoms and signs. The authors conclude that while decompression of a symptomatic Arnold-Chiari malformation may be effective in children and adults, this treatment does not always improve the clinical condition of infants. This may be the result of ischemic/hypoxic effects on the infant's brain stem, which may not be organized normally at birth. PMID:3572510

  8. Acute respiratory arrest. A complication of malformation of the shunt in children with myelomeningocele and Arnold-Chiari malformation.

    PubMed

    Tomita, T; McLone, D G

    1983-02-01

    Three children had hydrocephalus associated with myelomeningocele and the Arnold-Chiari malformation. They all experienced neck pain and opisthotonos, followed by the sudden onset of respiratory arrest as a result of the malfunction of a CSF shunt. There were no changes in pupillary response, and each patient remained alert until shortly before the respiratory arrest. Prompt surgical revision of the CSF shunt was carried out, and all three patients recovered. The mechanism of acute respiratory arrest seems to be acute compression of the brainstem as a result of hydrocephalus. The supratentorial pressure is direct on the posterior fossa structures through the enlarged tentorial opening, which is one of the characteristics of the brain in the Arnold-Chiari malformation. Sudden respiratory arrest, a life-threatening complication, is a result of a malfunction of the CSF shunt in children with myelomeningocele and requires prompt surgical decompression. PMID:6849301

  9. Experience with surgical decompression of the Arnold-Chiari malformation in young infants with myelomeningocele.

    PubMed

    Park, T S; Hoffman, H J; Hendrick, E B; Humphreys, R P

    1983-08-01

    Forty-five infants with myelomeningocele in whom hydrocephalus was absent or adequately controlled developed signs and symptoms of the Arnold-Chiari malformation before the age of 3 months. All of them underwent laminectomy and opening of the dura mater for hindbrain decompression. The clinical presentation included swallowing difficulty, apneic episodes, stridor, bronchial aspiration, arm weakness, and opisthotonos. Within 2 weeks of the initial clinical presentation, the neurological status of 14 patients (31%) deteriorated dramatically and culminated in irreversible neurological deficits. In all patients, compression of the brain stem occurred in the spinal canal. A transverse dural band constricting the dural sac at the C-1 level was noted in 41% of the patients, and a mild degree of arachnoidal adhesion was noted in 23%. The lowermost level of the cerebellar tongue or medullary kink was located at C-1 to C-4 in 28 cases and at C-5 to T-1 in 17 cases. Twenty-eight (62%) of the patients were alive and 17 (38%) had died at the last follow-up assessment. All survivors showed improvement of their overall neurological function. Twenty-four made a complete recovery. The majority of deaths were attributed to respiratory failure. Early recognition of symptoms and prompt decompressive laminectomy are essential for successful management of the Arnold-Chiari malformation in infants. PMID:6888694

  10. Arnold-Chiari 1 malformation type 1 with syringohydromyelia presenting as acute tetraparesis: A case report

    PubMed Central

    Schneider, Byron; Birthi, Pravardhan; Salles, Sara

    2013-01-01

    Context A 19-year-old woman who presented to a community hospital after awakening with tetraparesis, generalized paresthesia, and severe neck pain, and was transferred to an acute care hospital. Findings Magnetic resonance imaging of the head and spine was performed and revealed a cystic lesion extending from the C1 level to the C6 level as well as an Arnold-Chiari type 1 malformation. Emergent surgical posterior fossa decompression with duraplasty and C1 laminectomy was undertaken. Most symptoms improved immediately postoperatively. On post-operative day 15, the patient was transferred to our acute rehabilitation hospital for an additional 16 days. With continued aggressive therapy, she demonstrated complete resolution of tetraparesis as well as significant improvement in muscle strength and function in addition to resolution of paresthesia and neck pain. Functional independence measure scores were 69/126 on admission to 110/126 on discharge from the rehabilitation hospital. Her tetraparesis eventually resolved; manual muscle testing scores on follow-up 2 months later were 5/5 in all four extremities. Clinical relevance This is the first reported case of Chiari I malformation with syringohydromyelia presenting as acute tetraparesis, generalized paresthesia, and neck pain. Surgical decompression leading to resolution of symptoms made other etiologies extremely unlikely and there was no history of trauma. The different theories on the pathogenesis of syringomyelia are discussed. PMID:23809533

  11. Anesthetic management during Cesarean section in a woman with residual Arnold–Chiari malformation Type I, cervical kyphosis, and syringomyelia

    PubMed Central

    Ghaly, Ramsis F.; Candido, Kenneth D.; Sauer, Ruben; Knezevic, Nebojsa Nick

    2012-01-01

    Background: Type I Arnold–Chiari malformation (ACM) has an adult onset and consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum. There is paucity of literature on the anesthetic management during pregnancy of residual ACM Type I, with cervical xyphosis and persistent syringomyelia. Case Description: A 34-year-old woman with surgically corrected ACM Type I presented for Cesarean delivery. A recent MRI demonstrated worsening of cervical xyphosis after several laminectomies and residual syringomyelia besides syringopleural shunt. Awake fiberoptic intubation was performed under generous topical anesthesia to minimize head and neck movement during endotracheal intubation. We used a multimodal general anesthesia without neuromuscular blockade. The neck was maintained in a neutral position. Following delivery, the patient completely recovered in post-anesthesia care unit (PACU), with no headache and no exacerbation or worsening of neurological function. Conclusions: The present case demonstrates that patients with partially corrected ACM, syringomyelia, cervical kyphosis, and difficult intubation undergoing Cesarean delivery require an interdisciplinary team approach, diligent preparation, and skilled physicians. PMID:22439117

  12. 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

  13. Chiari I malformation with holocord syrinx

    Microsoft Academic Search

    J Kumar; A Kumar; S Gupta

    2009-01-01

    We present the magnetic resonance imaging findings of a classical case of Chiari I malformation with holocord syringohydromyelia. The clinical presentation, imaging findings and treatment options are discussed.

  14. The Chiari II malformation: cause and impact

    Microsoft Academic Search

    David G. McLone; Mark S. Dias

    2003-01-01

    IntroductionIt is the Chiari II malformation and its effects that determine the quality of life of the individual born with spina bifida.DiscussionThe cause of this malformation has been a source of debate for many years. Understanding the cause enables strategies for the management of problems created by this malformation to be developed. An open neural tube defect allows fluid to

  15. History, anatomic forms, and pathogenesis of Chiari I malformations

    Microsoft Academic Search

    Edgardo Schijman; C. Durand

    2004-01-01

    IntroductionChiari I malformations constitute a group of entities of congenital or acquired etiology that have in common descent of the cerebellar tonsils into the cervical spinal canal. In recent years, since the advent of magnetic resonance imaging, an increasing number of asymptomatic, doubtfully symptomatic, and minimally symptomatic patients with Chiari I malformations have been diagnosed. This has resulted in controversy

  16. The Chiari II malformation: Part IV. The hindbrain deformity

    Microsoft Academic Search

    T. P. Naidich; D. G. McLone; K. H. Fulling

    1983-01-01

    Computed tomography successfully delineates the multiple components of the Chiari II malformation at the craniocervical junction, the hindbrain, and the cervical spinal cord. These include wide foramen magnum and upper cervical spinal canal; incomplete fusions of the posterior arches of C1 and lower cervical vertebrae; cascading protrusions of vermis, fourth ventricle, medulla, and cervical cord into the spinal canal; cervicomedullary

  17. Surgical Management of Chiari Malformation: Analysis of 128 Cases

    Microsoft Academic Search

    Fuyou Guo; Meiyun Wang; Jiang Long; Huaili Wang; Hongwei Sun; Bo Yang; Laijun Song

    2007-01-01

    Objective: A variety of surgical interventions have been recommended for patients with Chiari malformations (CMs). In this study, we have evaluated the intraoperative findings and clinical outcome in different-aged patients with CMs undergoing posterior fossa decompression. Methods: Sixteen pediatric and 112 adult cases with CMs underwent suboccipital craniectomy and wide duraplasty as well as autogenous bone grafting in selected cases.

  18. Trigeminal neuralgia secondary to Chiari's malformation—treatment with ventriculoperitoneal shunt

    Microsoft Academic Search

    Kanna Gnanalingham; Shabin Man Joshi; Ben Lopez; Habib Ellamushi; Peter Hamlyn

    2005-01-01

    BackgroundTrigeminal neuralgia (TN) is most commonly related to vascular compression of the trigeminal nerve. Trigeminal neuralgia associated with Chiari's malformation and associated hydrocephalus are rare.

  19. Regional Ependymal Upregulation of Vimentin in Chiari II Malformation, Aqueductal Stenosis, and Hydromyelia

    Microsoft Academic Search

    Harvey B. Sarnat

    2004-01-01

    Vimentin, glial fibrillary acidic protein (GFAP) and S-100 ? protein were studied by immunocytochemistry in the ependyma of patients with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia. Paraffin sections of brains and spinal cords of 16 patients were examined, 14 with Chiari II malformations, most with aqueductal stenosis and\\/or hydromyelia as associated features, and 2 patients with congenital aqueductal

  20. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics

    Microsoft Academic Search

    Marcy C. Speer; David S. Enterline; Lorraine Mehltretter; Preston Hammock; Judith Joseph; Margaret Dickerson; Richard G. Ellenbogen; Thomas H. Milhorat; Michael A. Hauser; Timothy M. George

    2003-01-01

    Chiari type I malformation has traditionally been defined as a downward herniation of the cerebellar tonsils of =5 mm through the foramen magnum and it is likely associated with a volumetrically reduced posterior fossa. Syringomyelia is commonly associated with Chiari type I malformation. We estimate the prevalence of these two conditions and determine that they are more common than previously

  1. Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation

    Microsoft Academic Search

    Sabine Defoort-Dhellemmes; Eric Denion; Carl F. Arndt; Isabelle Bouvet-Drumare; Jean-Claude Hache; Patrick Dhellemmes

    2002-01-01

    PURPOSE: To report a case of acute comitant esotropia successfully treated with suboccipital decompression in a 9-year-old male patient with Chiari I malformation.DESIGN: Interventional case report.METHODS: A 9-year-old male with Chiari I malformation had acute onset of diplopia, headache, and comitant esotropia.RESULTS: About 9 months after suboccipital decompression, diplopia resolved and there was near orthophoria on examination 15 months after

  2. Surgical Management of Patients with Chiari I Malformation

    PubMed Central

    Siasios, John; Kapsalaki, Eftychia Z.; Fountas, Kostas N.

    2012-01-01

    Chiari malformations (CMs) constitute a variety of four mainly syndromes (I, II, III, and IV), which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients. PMID:22811732

  3. Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature

    Microsoft Academic Search

    Gaurav G. Mavinkurve; Daniel Sciubba; Eric Amundson; George I. Jallo

    2005-01-01

    Objective: Familial cases of Chiari malformation with syringo- myelia are rare. The majority of the reported series and case reports detail sporadic cases. The authors report two siblings who presented with Chiari type I malformation and syringomye- lia (CMI+S). Clinical presentation: We report two sisters who each presented with scoliosis on routine school physicals. Their clinical exam- ination was unremarkable;

  4. 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

  5. Syringomyelia with Chiari I malformation presenting as hip charcot arthropathy: a case report and literature review.

    PubMed

    Memarpour, Roya; Tashtoush, Basheer; Issac, Lydia; 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

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

    Microsoft Academic Search

    Helen Williams

    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

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

    Microsoft Academic Search

    Chul Park; Byeong-Teck Kang; Jong-Hyun Yoo; Hee-Myung Park

    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

  8. 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…

  9. Treatment and management of the Chiari II malformation: an evidence-based review of the literature

    Microsoft Academic Search

    R. Shane Tubbs; W. Jerry Oakes

    2004-01-01

    Objective Multiple surgical strategies exist for the management of the symptomatic Chiari II malformation. To date, no comprehensive analysis of this medical literature in an attempt to seek out standards or guidelines has been performed, thus serving as the impetus for this present review. Methods A computerized search of the database of the National Library of Medicine was performed on

  10. Acquired Chiari malformation secondary to atlantoaxial vertical subluxation in a patient with rheumatoid arthritis combined with atlanto-occipital assimilation.

    PubMed

    Kimura, Yuiko; Seichi, Atsushi; Gomi, Akira; Kojima, Masahiro; Inoue, Hirokazu; Kimura, Atsushi

    2012-01-01

    A 65-year-old woman with a history of rheumatoid arthritis presented with a rare case of acquired Chiari malformation secondary to atlantoaxial vertical subluxation, associated with congenital atlanto-occipital assimilation. Syringomyelia and tetraparesis improved immediately after posterior fossa decompression and simultaneous occipito-cervical junction fusion. The progression of acquired Chiari malformation is not well known. We concluded that coexisting assimilation accelerated crowded foramen magnum following atlantoaxial vertical subluxation and induced acquired Chiari malformation over the course of a few years. PMID:23006887

  11. 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

  12. Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation.

    PubMed

    Tubbs, R S; Elton, S; Blount, J P; Oakes, W J

    2001-09-01

    Historically, there have been no accounts of an association between simple metopic ridging and the Chiari I malformation. We prospectively evaluated 50 children with simple metopic ridges and found that 30% of these patients had a Chiari I malformation. During the period in which this screening for simple metopic ridges was performed, only 9% of the total patient population (324) was diagnosed as having a Chiari I malformation. We hypothesize that small decreases in anterior fossa volume in children with a simple metopic ridge and no other clinical findings of trigonocephaly may increase their chance of having a Chiari I malformation that becomes symptomatic. In addition, simple metopic ridging should perhaps be added to the list of bony anomalies associated with the Chiari I malformation, such as atlantal assimilation and retroverted odontoid processes. Future studies aimed at calculating anterior fossa volumes in children with a Chiari I malformation and imaging all children with simple metopic ridges are now necessary to ascertain if there is an increased risk of these patients becoming symptomatic with a hindbrain hernia or having a hindbrain hernia, respectively. PMID:11641622

  13. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.

    PubMed

    Shimojima, Keiko; Okamoto, Nobuhiko; Tamasaki, Akiko; Sangu, Noriko; Shimada, Shino; Yamamoto, Toshiyuki

    2015-04-01

    Patients with microdeletions in the 19p13.2 chromosomal region show developmental delays, overgrowth, and distinctive features with big head appearances. These manifestations are now recognized as Sotos syndrome-like features (Sotos syndrome 2) or Malan syndrome. We identified three female patients with 19p13.2 deletions involving NFIX, a gene responsible for Malan syndrome. We compared the genotypic and phenotypic data of these patients with those of the patients previously reported. The most of the clinical features were found to overlap; however, Chiari malformation type I was observed in two of the three patients evaluated in this study. Because Chiari malformation type I has never been reported in the patients with NSD1-related Sotos syndrome, this finding indicates the possible role of 19p13.2 deletion in patients with mimicking features of Sotos syndrome but have negative NSD1 testing results. PMID:25736188

  14. Gowers’ intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome

    PubMed Central

    Mitsuhara, Takafumi; Yamaguchi, Satoshi; Takeda, Masaaki; Kurisu, Kaoru

    2014-01-01

    Background: Idiopathic hemorrhage in a syrinx is a rare entity known as Gowers’ intrasyringeal hemorrhage. Bleeding confined to the syrinx cavity causes severe, sometimes acute, neurological deficits. We report a case of intrasyringeal hemorrhage into a preexisting lumbosacral syrinx associated with Chiari type I malformation. Case Description: A 39-year-old female with Noonan syndrome underwent foramen magnum decompression and a cervical syrinx-subarachnoid shunt for Chiari type I malformation-associated syringomyelia 7 years ago. She presented progressive gait deterioration and acute urinary dysfunction, indicating conus medullaris syndrome. Initial magnetic resonance imaging revealed massive hemorrhage in the intrasyringeal cavity of the conus medullaris. The patient underwent surgical removal of the intrasyringeal hematoma and her neurological symptoms improved postoperatively. Conclusion: Although Gowers’ intrasyringeal hemorrhage is rare, this entity should be taken into consideration in patients with syringomyelia showing acute neurological deterioration. PMID:24575321

  15. 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

  16. Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management

    PubMed Central

    Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.

    2010-01-01

    Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension. PMID:20440631

  17. Duraplasty or not? An evidence-based review of the pediatric Chiari I malformation

    Microsoft Academic Search

    Todd Hankinson; R. Shane Tubbs; John C. Wellons

    2011-01-01

    Objectives  Few studies are available that directly compare dural opening with and without additional intradural maneuvers. Therefore,\\u000a the current review analyzed the available literature regarding this topic.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  An Ovid MEDLINE search was completed using each of the terms “Chiari malformation,” “syringomyelia,” “syrinx,” “syringohydromyelia”\\u000a in combination with “child” or “pediatric.” Publications were considered relevant if they reported the results of posterior\\u000a fossa

  18. Yawning as a presenting symptom of Chiari malformation Type I: report of 2 cases.

    PubMed

    Zebian, Bassel; Hogg, Florence Rosie Avila; Fu, Richard Zhiming; Sivakumaran, Ramanan; Stapleton, Simon

    2015-06-01

    Yawning is thought to be a behavior regulated by the brainstem. Although excessive yawning has been reported in brainstem strokes, demyelination, and tumors, the cases presented here are the first reports of excessive yawning in patients with Chiari malformation Type I (CM-I). The authors believe that brainstem compression at the craniocervical junction and ensuing edema were implicated in this curious symptomatology. They describe excessive yawning as a presenting feature of CM-I in 2 adolescent females. The presentation was acute in the first case and more chronic in the second. Both patients underwent foramen magnum decompression, which resulted in complete cessation of the excessive yawning. PMID:25815634

  19. Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

    PubMed Central

    Canpolat, Aydin; Akçakaya, Mehmet Osman; Altunrende, Emre; Özlü, Harun Mehmet; Duman, Hakan; Ton, Tu?rul; Akdemir, Osman

    2014-01-01

    Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I. PMID:24741262

  20. Chiari Malformation

    MedlinePLUS

    ... resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. ...

  1. Relationship between pharyngitis and peri-odontoid pannus: A new etiology for some Chiari I malformations?

    PubMed

    Tubbs, R Shane; Griessenauer, Christoph J; Hendrix, Philipp; Oakes, Peter; Loukas, Marios; Chern, Joshua J; Rozzelle, Curtis J; Oakes, W Jerry

    2015-07-01

    The pathophysiology underlying Chiari I malformations (CIMs) provides room for debate with several theories attempting to address this issue. We retrospectively reviewed many of our past patients with pediatric CIMs (specifically, those with peri-odontoid pannus), and present a hypothesis for the development of the malformation in some of said patients. Our experience with the pediatric CIM has shown that almost 1 in 20 patients who present with symptoms is found to have a peri-odontoid pannus. These masses ranged in size from 4 to 11 mm in diameter. Forty percent had a history of clinically significant pharyngitis or pharyngeal abscess. Pannus formation around the dens (odontoid) resulted in ventral compression of the craniocervical junction in each of these patients. Highlighting the hypermobility that causes such lesions, following fusion, the pannus and symptoms in several patients were diminished. Impairment of normal cerebrospinal fluid circulation out of the fourth ventricle and across the craniocervical junction appears to be a plausible endpoint in this discussion and a suitable explanation for some patients with CIM. Still, the mechanisms by which cerebrospinal fluid circulation is compromised may be variable and are not well understood. This is the first study dedicated to the evaluation of pannus formation in the CIM population. We hypothesize that pharyngeal inflammatory conditions contribute to the formation and progression of hindbrain herniation in a small subset of patients with CIMs. Clin. Anat. 28:602-607, 2015. © 2015 Wiley Periodicals, Inc. PMID:25974330

  2. Transverse Microincisions of the Outer Layer of the Dura mater Combined with Foramen Magnum Decompression as Treatment for Syringomyelia with Chiari I Malformation

    Microsoft Academic Search

    G. Gambardella; G. Caruso; M. Caffo; A. Germanò; G. La Rosa; F. Tomasello

    1998-01-01

    Summary   Numerous surgical procedures have been proposed for treatment of syringomyelia associated with Chiari I malformation, but\\u000a the optimal treatment has not yet been uniformly standardised. The main aim of the surgical treatment of syringomyelia\\/Chiari\\u000a I complex is directed toward restoration of physiological cerebrospinal fluid dynamic at the craniovertebral junction. We\\u000a report the surgical results of eight patients, affected by

  3. Computational fluid dynamics modelling of cerebrospinal fluid pressure in Chiari malformation and syringomyelia.

    PubMed

    Clarke, Elizabeth C; Fletcher, David F; Stoodley, Marcus A; Bilston, Lynne E

    2013-07-26

    The pathogenesis of syringomyelia in association with Chiari malformation (CM) is unclear. Studies of patients with CM have shown alterations in the CSF velocity profile and these could contribute to syrinx development or enlargement. Few studies have considered the fluid mechanics of CM patients with and without syringomyelia separately. Three subject-specific CFD models were developed for a normal participant, a CM patient with syringomyelia and a CM patient without syringomyelia. Model geometries, CSF flow rate data and CSF velocity validation data were collected from MRI scans of the 3 subjects. The predicted peak CSF pressure was compared for the 3 models. An extension of the study performed geometry and flow substitution to investigate the relative effects of anatomy and CSF flow profile on resulting spinal CSF pressure. Based on 50 monitoring locations for each of the models, the CM models had significantly higher magnitude (p<0.01) peak CSF pressure compared with normal. When using the same CSF input flow waveform, changing the upper spinal geometry changed the magnitude of the CSF pressure gradient, and when using the same upper spinal geometry, changing the input flow waveform changed the timing of the peak pressure. This study may assist in understanding syringomyelia mechanisms and relative effects of CSF velocity profile and spinal geometry on CSF pressure. PMID:23769174

  4. 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

  5. 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

  6. Decompression for Chiari type I-malformation ( with or without syringomyelia ) by extreme lateral foramen magnum opening and expansile duraplasty with arachnoid preservation: comparison with other technical modalities (Literature review)

    Microsoft Academic Search

    M. Sindou; E. Gimbert

    Posterior craniocervical decompression is the procedure most currently used for treating Chiari I malformation (alone or in\\u000a association with syringomyelia in the absence of hydrocephalus). We reviewed the various technical modalities reported in\\u000a the literature. We present a personal series of 44 patients harboring Chiari type I malformation (CM-I) operated with a suboccipital\\u000a craniectomy and a C1 (or C1\\/C2) laminectomy,

  7. Placement of occipital condyle screws for occipitocervical fixation in a pediatric patient with occipitocervical instability after decompression for Chiari malformation.

    PubMed

    Bekelis, Kimon; Duhaime, Ann-Christine; Missios, Symeon; Belden, Clifford; Simmons, Nathan

    2010-08-01

    In cadaveric studies and recently in one adult patient the occipital condyle has been studied as an option to allow bone purchase by fixation devices. In the current case the authors describe the use of occipital condyle screws in a child undergoing occipitocervical fixation. To the best of the authors' knowledge this case is the first reported instance of this technique in a pediatric patient. This girl had a history of posterior fossa decompression for Chiari malformation Type I when she was 22 months of age. When she was 6 years old she presented with neck pain on flexion and extension of her head. Magnetic resonance imaging in flexion and extension revealed occipitocervical instability. She underwent an occiput to C-2 posterior arthrodesis with bilateral screw placement in the occipital condyles, C-2 lamina, and C-1 lateral masses. Postoperatively, she was neurologically intact. Computed tomography demonstrated a stable construct, and her cervical pain had resolved on follow-up. PMID:20672939

  8. 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

  9. Comparative effects of valproic acid sodium for Chiari-like malformation at 9 and 10 days of gestation in the rat

    Microsoft Academic Search

    Soner Duru; Süreyya Ceylan; Savas Ceylan

    2001-01-01

    Our study was conducted to compare structural changes of brain exposed to 500 mg\\/kg valproic acid sodium (VA) at 10 days of gestation and 2얨 mg\\/kg VA at 9 days of gestation for Chiari-like malformation (CLM). Brains, each still in the cranium, were placed under the dissecting microscope in such a way that the midsagittal surface for angular morphology was

  10. 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

  11. Cognitive and functional outcome in spina bifida–Chiari II malformation

    Microsoft Academic Search

    Michael D. Jenkinson; Sophie Campbell; Caroline Hayhurst; Simon Clark; Jothy Kandasamy; Maggie K. Lee; Ann Flynn; Peter Murphy; Conor L. Mallucci

    2011-01-01

    Purpose  The long-term outcome in spina bifida–Chiari II–hydrocephalus complex is poorly understood. Traditional neurosurgical outcome\\u000a measures are crude. Neuropsychological testing is increasingly important in outcome assessment. We investigated the health,\\u000a disability, lifestyle and cognitive function in adults who had myelomeningocoele closure at birth.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Adult patients under routine follow-up were assessed in a joint neurosurgery\\/neuropsychology clinic. Patients completed lifestyle\\u000a questionnaires, the hydrocephalus

  12. Monosymptomatic presentation of type I Arnold-Chiari malformation: report of two cases.

    PubMed

    Cammalleri, R; D'Amelio, M; Gangitano, M; Raimondo, D; Rossetti, M; Camarda, R

    1994-02-01

    Two cases of type I ACM are described, one of which presented with dizziness in late childhood (case 1), the other with mild intention tremor in adulthood (case 2). Cerebellar ectopia should be considered in monosymptomatic patients even in the absence of other symptoms and signs of C.N.S. dysfunction. Magnetic resonance imaging of the craniocervical junction should be performed because it may be diagnostic for type I ACM. PMID:8206748

  13. Relationship of syrinx size and tonsillar descent to spinal deformity in Chiari malformation Type I with associated syringomyelia

    PubMed Central

    Godzik, Jakub; Kelly, Michael P.; Radmanesh, Alireza; Kim, David; Holekamp, Terrence F.; Smyth, Matthew D.; Lenke, Lawrence G.; Shimony, Joshua S.; Park, Tae Sung; Leonard, Jeffrey; Limbrick, David D.

    2014-01-01

    Object Chiari malformation Type I (CM-I) is a developmental abnormality often associated with a spinal syrinx. Patients with syringomyelia are known to have an increased risk of scoliosis, yet the influence of specific radiographically demonstrated features on the prevalence of scoliosis remains unclear. The primary objective of the present study was to investigate the relationship of maximum syrinx diameter and tonsillar descent to the presence of scoliosis in patients with CM-I–associated syringomyelia [AQ? Edit okay? If not, please advise. JG: edit correct]. A secondary objective was to explore the role of craniovertebral junction (CVJ) characteristics for additional risk factors for scoliosis. Methods The authors conducted a retrospective review of pediatric patients evaluated for CM-I with syringomyelia at a single institution in the period from 2000 to 2012. Syrinx morphology and CVJ parameters were evaluated with MRI, whereas the presence of scoliosis was determined using standard radiographic criteria. Multiple logistic regression was used to analyze radiological features that were independently associated with scoliosis. Results Ninety-two patients with CM-I and syringomyelia were identified. The mean age was 10.5 ± 5 years. Thirty-five (38%) of 92 patients had spine deformity; 23 (66%) of these 35 were referred primarily for deformity, and 12 (34%) were diagnosed with deformity during workup for other symptoms. Multiple regression analysis revealed maximum syrinx diameter > 6 mm (OR 12.1, 95% CI 3.63–40.57, p < 0.001) and moderate (5–12 mm) rather than severe (> 12 mm) tonsillar herniation (OR 7.64, 95% CI 2.3–25.31, p = 0.001) as significant predictors of spine deformity when controlling for age, sex, and syrinx location. Conclusions The current study further elucidates the association between CM-I and spinal deformity by defining specific radiographic characteristics associated with the presence of scoliosis. Specifically, patients presenting with larger maximum syrinx diameters (> 6 mm) have an increased risk of scoliosis. PMID:24527859

  14. Intraoperative somatosensory evoked potential recovery following opening of the fourth ventricle during posterior fossa decompression in Chiari malformation: case report.

    PubMed

    Grossauer, Stefan; Koeck, Katharina; Vince, Giles H

    2015-03-01

    The most appropriate surgical technique for posterior fossa decompression in Chiari malformation (CM) remains a matter of debate. Intraoperative electrophysiological studies during posterior fossa decompression of Type I CM (CM-I) aim to shed light on the entity's pathomechanism as well as on the ideal extent of decompression. The existing reports on this issue state that significant improvement in conduction occurs after craniotomy in all cases, but additional durotomy contributes a further improvement in only a minority of cases. This implies that craniotomy alone might suffice for clinical improvement without the need of duraplasty or even subarachnoid manipulation at the level of the craniocervical junction. In contrast to published data, the authors describe the case of a 32-year-old woman who underwent surgery for CM associated with extensive cervicothoracic syringomyelia and whose intraoperative somatosensory evoked potentials (SSEPs) did not notably improve after craniotomy or following durotomy; rather, they only improved after opening of the fourth ventricle and restoration of CSF flow through the foramen of Magendie. Postoperatively, the patient recovered completely from her preoperative neurological deficits. To the authors' knowledge, this is the first report of significant SSEP recovery after opening the fourth ventricle in the decompression of a CM-I. The electrophysiological and operative techniques are described in detail and the findings are discussed in the light of available literature. The authors conclude that there might be a subset of CM-I patients who require subarachnoid dissection at the level of the craniocervical junction to benefit clinically. Prospective studies with detailed electrophysiological analyses seem warranted to answer the question regarding the best surgical approach in CM-I decompression. PMID:25526275

  15. Chiari Malformation: Symptoms

    MedlinePLUS

    ... may cause tinnitus (ringing in the ears), depth perception, running into walls and tripping. 8 © 2012 C&S ... Of or pertaining to the mental processes of perception, memory, judgment, and reasoning 10 © 2012 C&S Patient ...

  16. TODAS LAS CEFALEAS CON CHIARI DEBEN OPERARSE?

    Microsoft Academic Search

    FEDERICO BUONANOTTE

    Summary Must all headaches in patients with Chiari malformation be surgically treated ? The Chiari Mal formation is a frequent cause of headache related to effort. The mechanic obstruction of circula- tion of the CRL is the cause of the syrinx and the symptoms. The spontaneous resolution of the syrinx is uncomon even and has been reported a very few

  17. The need in dural graft suturing in Chiari I malformation decompression: A prospective, single-blind, randomized trial comparing sutured and sutureless duraplasty materials

    PubMed Central

    Williams, Leena E.; Vannemreddy, Prasad S.; Watson, Karriem S.; Slavin, Konstantin V.

    2013-01-01

    Background: This study compared the use of two commonly utilized dural closure techniques used in augmentation duraplasty for Chiari malformation I (CM I) and evaluated their efficacy and outcome in terms of quality of life assessments. Methods: This prospective randomized study compared sutureless (DuraGen) and suturable (Dura-Guard) techniques in CM I decompression. Clinical parameters, cost analysis, and SF-36 Quality of Life Questionnaire (QLQ) were utilized to assess outcome. Results: Thirty-four patients were enrolled. Average age was 38.7 ± 12.2 years (mean ± SD (Standard Deviation)) and 82% of patients were female. Sixteen patients received DuraGen and 18 Dura-Guard. Age and gender were similar among groups. Postoperative complications did not differ between groups. Operative cost and time were less for DuraGen, whereas hospital stay was less with Dura-Guard, neither was statistically significant. Average QLQ scores at months 1, 2, and 3 improved in both groups. Dura-Guard patients showed greater improvement in quality of life at month 2 (P < 0.05) but groups did not differ at final survey. All patient's physical health (P < 0.005) and function (P < 0.005) were significantly improved. Outcome did not differ between groups and all patients showed significant improvement (P < 0.05). Conclusion: Both techniques are effective in reaching the goals of decompressive surgery for CM I and did not differ in quality of life at final survey. All patients showed significant improvement in physical function, physical health, and outcome following surgery. With all variables being equal the choice of duraplasty material may be based upon surgeon's preference. PMID:23532455

  18. [Potentialities of magnetic resonance imaging in the complex of prenatal radiation diagnosis of fetal malformations].

    PubMed

    Mikha?lov, M K; Akberov, R F; Anisimov, V I; Iusupov, K F

    2004-01-01

    The purpose of the study was to investigate the potentialities of magnetic resonance imaging (MRI) in the complex of prenatal radiation diagnosis of fetal malformations. Twenty-eight female patients with suspected fetal malformations were examined. Ultrasound study was supplemented by MRI according to a specially developed protocol. Various fetal CNS malformations were diagnosed. These included the Arnold-Chiari syndrome, the Dandy-Walker syndrome, occlusive hydrocephaly, lobular holoprosencephaly, porencephaly, diaphragmatic hernias, anomalies of the abdomen and retroperitoneal space, as well as anomalies of facial structures, including median clefts, and dacryocystocele. The use of MRI in the complex prenatal radiation diagnosis makes it possible to visualize fetal malformation more clearly, contributes to the more adequate prediction of the outcome of pregnancy and to the choice of a management policy for a female patient. PMID:15462048

  19. Cefalea recurrente pospunción dural en una paciente con síndrome de Chiari tipo I no conocido

    Microsoft Academic Search

    M. A. Rodríguez-Navarro; J. A. Pérez-Moreno; P. González-Pérez; E. Rubio; E. Manzano

    2009-01-01

    ObjectiveTo identify the risk of neurological complications of spinal anesthesia in patients with preexisting Chiari I malformation and to differentiate this entity from “acquired Chiari I malformation”, caused by intracranial hypotension. These two entities can be difficult to distinguish radiologically.

  20. Sutures - separated

    MedlinePLUS

    Arnold-Chiari malformation Battered child syndrome Bleeding inside the brain (intraventricular hemorrhage) Brain tumor Certain vitamin deficiencies Dandy-Walker malformation Down syndrome Hydrocephalus Infections that are ...

  1. Budd-Chiari Syndrome

    Microsoft Academic Search

    Susana Seijo-Ríos; Puneeta Tandon; Jaime Bosch; Juan Carlos García-Pagán

    \\u000a The Budd-Chiari syndrome (BCS) is an uncommon and life-threatening disorder defined as the obstruction of hepatic venous outflow\\u000a regardless of its causative mechanism or level of obstruction. The clinical presentation of BCS is highly variable and can\\u000a range from asymptomatic cases to ­fulminant hepatic failure with encephalopathy. In the vast majority of cases, it is possible\\u000a to identify an inherited

  2. 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 Central

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

    2011-01-01

    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

  3. 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.

  4. Persistent/Recurrent Syringomyelia after Chiari Decompression—Natural History and Management Strategies: A Systematic Review

    PubMed Central

    Schuster, James M.; Zhang, Fangyi; Norvell, Daniel C.; Hermsmeyer, Jeffrey T.

    2013-01-01

    Study Design?Systematic review. Study Rationale?One of the most consistent indications for a Chiari decompression is tonsillar descent meeting the radiographic criteria and an associated syrinx in a symptomatic patient. In counseling patients about surgery, it would be advantageous to have information regarding the expected outcome with regard to the syrinx and other possible treatments available if the result is suboptimal. Clinical Questions?The clinical questions include: (1) What is the average rate of recurrent or residual syringomyelia following posterior fossa decompression as a result of Chiari malformation with associated syringomyelia? (2) What treatment methods have been reported in the literature for managing recurrent or residual syringomyelia after initial posterior fossa decompression? Materials and Methods Available search engines were utilized to identify publications dealing with recurrent or residual syrinx after Chiari decompression and/or management of the syrinx. Rates of residual or recurrent syrinx were extracted and management strategies were recorded. Overall strength of evidence was quantified. Results?Of the 72 citations, 11 citations met inclusion criteria. Rates of recurrent/residual syringomyelia after decompression in adults range from 0 to 22% with an average of 6.7%. There were no studies that discussed specifically management of the remaining syrinx. Conclusion?Rates of recurrent/residual syringomyelia after Chiari decompression in adults range from 0 to 22% (average 6.7%). Although no studies describing the optimal management of residual syrinx were found, there is general agreement that the aim of the initial surgery is to restore relatively unimpeded flow of cerebrospinal across the craniocervical junction. Large holocord syrinx may induce a component of spinal cord injury even with adequate decompression and reduction in the caliber of the syrinx, resulting in permanent symptoms of injury. PMID:24436709

  5. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  6. Arnold Schwarzenegger ATTACHMENT #14

    E-print Network

    ..................................................................... 10 3.1 Impact on Mechanical Ventilation RequirementArnold Schwarzenegger Governor ATTACHMENT #14 IMPACT OF TITLE 24 RESIDENTIAL LEAKAGE REDUCTION

  7. MEMORIAL RESOLUTION JOHN E. ARNOLD

    E-print Network

    Prinz, Friedrich B.

    MEMORIAL RESOLUTION JOHN E. ARNOLD 1913-1963 John Edward Arnold was born on March 14, 1913 printer, outdoorsman--John Edward Arnold was many things. Statistics do not measure the man nor assess the community's loss at his death. John Arnold was, perhaps, best known for his contributions to educational

  8. Budd-Chiari syndrome in association with Behçet's disease.

    PubMed

    al-Dalaan, A; al-Balaa, S; Ali, M A; Huraib, S; Amin, T; al-Maziad, A; al-Fadda, M

    1991-04-01

    Budd-Chiari syndrome developed in 3 patients with preexisting Behçet's disease. Benign intracranial hypertension was the chief presenting complaint in one patient, who later suffered extensive inferior vena caval and hepatic vein thrombosis, with manifestations of Budd-Chiari syndrome. She did not respond to treatment and subsequently died of hepatic coma. In the other 2 patients, Budd-Chiari syndrome was confirmed by liver biopsy. Both patients made a good recovery and remain well at the time of this report. PMID:2066958

  9. Budd-Chiari syndrome and liver transplantation.

    PubMed

    Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

    2015-02-01

    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

  10. 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

  11. 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

  12. Arnold Schwarzenegger CERTS MICROGRID

    E-print Network

    in a cabinet for wall mount at the test site. The Surge Module provides 20 kW of battery power for 250Arnold Schwarzenegger Governor CERTS MICROGRID LABORATORY TEST BED Tecogen CHP Modules to the CERTS research program for the AEP Microgrid Test Bed. Tecogen subcontracted with Youtility Inc. (Hudson

  13. Chart Parsing Doug Arnold

    E-print Network

    Lin, Dekang

    Chart Parsing Doug Arnold doug@essex.ac.uk 1 The Problems · Inefficiency of backtracking parsers baby PP with a telescope The use of a chart offers three advantages: · it avoids multiplication for `partial parses'. Moreover, (`active') chart parsing, that is, parsing where the chart itself drives

  14. Budd-Chiari Syndrome: Analysis of 30 Cases

    Microsoft Academic Search

    Yusuf Bayraktar; Ferhun Balkanci; Emin Kansu; Burhan Kayhan; Serap Arslan; Muzaffer Eryilmaz; Hasan Telatar

    1993-01-01

    The authors report their experience with 30 adult patients with Budd-Chiari syndrome (BCS), which is a rare and serious disorder, characterized by hepatic outflow obstruction caused by many different conditions.The diagnosis was based on the clinical data, ultrasonography (US), vena cavography and hepatic venography, computed tomography (CT), and liver bi opsy. Behçet's disease (BD) was found in 10 patients with

  15. Arnold Schwarzenegger SINGLE CRYSTAL SILICON

    E-print Network

    Arnold Schwarzenegger Governor SINGLE CRYSTAL SILICON SHEET GROWTH Prepared For: California Energy CRYSTAL SILICON SHEET GROWTH EISG AWARDEE ENERGY MATERIALS RESEARCH 132 Chalmers Drive Rochester Hills, MI

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

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Capillary malformation-arteriovenous malformation syndrome (often shortened to CM-AVM ) On this ... August 2011 What is CM-AVM? Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the ...

  17. Syringomyelia with irreducible atlantoaxial dislocation, basilar invagination and Chiari I malformation

    Microsoft Academic Search

    Shenglin WangChao; Chao Wang; Ming Yan; Haitao Zhou; Liang Jiang

    2010-01-01

    A 27-year-old woman presented with bilateral weakness of her all extremities for 5 years. She had a spastic gait and was unable\\u000a to ambulate without assistance. Neurologic examination revealed increased deep tendon reflexes and positive pathologic reflexes.\\u000a Radiographs showed occipitalization of the atlas, C2–C3 congenital fusion and fixed atlantoaxial dislocation with an atlanto-dental\\u000a interval of 10 mm. MRI demonstrated cervicomedullary junction (CMJ)

  18. Automated Posterior Cranial Fossa Volumetry by MRI: Applications to Chiari Malformation Type I

    PubMed Central

    Bagci, A.M.; Lee, S.H.; Nagornaya, N.; Green, B.A.; Alperin, N.

    2013-01-01

    BACKGROUND AND PURPOSE Quantification of PCF volume and the degree of PCF crowdedness were found beneficial for differential diagnosis of tonsillar herniation and prediction of surgical outcome in CMI. However, lack of automated methods limits the clinical use of PCF volumetry. An atlas-based method for automated PCF segmentation tailored for CMI is presented. The method performance is assessed in terms of accuracy and spatial overlap with manual segmentation. The degree of association between PCF volumes and the lengths of previously proposed linear landmarks is reported. MATERIALS AND METHODS T1-weighted volumetric MR imaging data with 1-mm isotropic resolution obtained with the use of a 3T scanner from 14 patients with CMI and 3 healthy subjects were used for the study. Manually delineated PCF from 9 patients was used to establish a CMI-specific reference for an atlas-based automated PCF parcellation approach. Agreement between manual and automated segmentation of 5 different CMI datasets was verified by means of the t test. Measurement reproducibility was established through the use of 2 repeated scans from 3 healthy subjects. Degree of linear association between PCF volume and 6 linear landmarks was determined by means of Pearson correlation. RESULTS PCF volumes measured by use of the automated method and with manual delineation were similar, 196.2 ± 8.7 mL versus 196.9 ± 11.0 mL, respectively. The mean relative difference of ?0.3 ± 1.9% was not statistically significant. Low measurement variability, with a mean absolute percentage value of 0.6 ± 0.2%, was achieved. None of the PCF linear landmarks were significantly associated with PCF volume. CONCLUSIONS PCF and tissue content volumes can be reliably measured in patients with CMI by use of an atlas-based automated segmentation method. PMID:23493894

  19. Cerebral Cavernous Malformation

    MedlinePLUS

    ... medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure CCM. NIH Patient Recruitment for Cavernous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  20. George W. Arnold George Arnold was appointed National Coordinator for Smart Grid Interoperability at the

    E-print Network

    Magee, Joseph W.

    George W. Arnold George Arnold was appointed National Coordinator for Smart Grid Interoperability the development of standards underpinning the nation's Smart Grid. Dr. Arnold joined NIST in September 2006

  1. Liver transplantation for PNH with Budd-Chiari syndrome

    Microsoft Academic Search

    N. Schattenforh; W. O. Bechstein; G. Blumhardt; R. Langer; H. Lobeck; J. M. Langrehr; P. Neuhaus

    1993-01-01

    A 54-year-old male patient with end-stage liver failure from Budd-Chiari syndrome due to paroxysmal nocturnal hemoglobinuria (PNH) underwent liver transplantation (OLT) in 1989. Retransplantation became necessary 1 year later when thrombotic occlusion of the portal vein and common hepatic artery led to graft loss after withdrawal of anticoagulation therapy because of several gastrointestinal bleeding episodes. The patient is now alive

  2. Management of Vascular Malformations

    PubMed Central

    Houbara, Seiji; Hirano, Akiyoshi

    2014-01-01

    Background: Even though vascular malformations are well categorized, further details are relatively unknown. Of treated patients regarding the frequency, demographic distributions, and other related factors by multivariate regression analyses in proportion to total vascular malformations, methods of treatment and how to manage them have not been elucidated thoroughly. Methods: From January 2006 to March 2012, consecutively treated patients with vascular anomalies were included in this investigation at least 1-year follow-up. Results: Of the total of 123 cases, 86 females and 37 males, the mean follow-up was 3.5?±?1.68 years, and the frequency of treatment was 1–8 times (1.8?±?1.30). Surgery was performed for 22 cases (17.9%) of venous malformations and arteriovenous malformations. In multivariate regression, the frequency of treatment was significantly correlated with the length of follow-up (P < 0.001), age (P < 0.05), and type of malformations (P < 0.05) (R2 = 0.18). Need for surgery was significantly increased with age at odds ratio (OR) of 1.06 [95% confidence interval (CI), 1.03–1.80] (P < 0.001), and head/face/neck, and upper limb are more performed at OR of 0.24 (95% CI, 0.07–0.85) (P < 0.05). The satisfaction score varied from 1 to 5 (3.9?±?0.68). Complications occurred in 3 cases (2.4%). In logistic regression of complications, the OR of the satisfaction score was 0.13 (95% CI, 0.02–0.80) (P < 0.05). Conclusions: Treatment of vascular malformations is an integral part of multidisciplinary approaches. Venous malformations are more frequent in combination surgery, and if there are fewer complications, the patients’ satisfaction increases. PMID:25289321

  3. In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial

    Microsoft Academic Search

    Enrico Danzer; Alan W. Flake

    2008-01-01

    Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not

  4. Advanced alveolar echinococcosis disease associated with Budd–Chiari syndrome

    PubMed Central

    Soyer, Vural; Ara, Cengiz; Yaylak, Faik; Sar?c?, Bar??; Ozsoy, Mustafa; Koç, Okay; Y?lmaz, Sezai

    2015-01-01

    Introduction Alveolar echinococceal disease of the liver is rare. Echinococcus multilocularis is responsible for the development of the related clinical conditions. Advanced disease may result with serious complications such as end stage liver disease and Budd–Chiari syndrome. Presentation of case In this presentation, a 28 years-old woman who was a case with advanced alveolar echinococcosis complicated with a Budd–Chiari syndrome and was performed successful living donor liver transplantation, has been demonstrated with clinical and radiological images. Discussion Initially there may be no clinical evidence of the disease in humans for years. Severity and fatality are the significant characteristics of the natural history. Extension to the surrounding tissues and metastasis of the parasitic mass may be observed. Prevention is essential in disease control. Serologic assay may identify the parasite. However, early diagnosis is rare. Staging is based on radiologic imaging. Some patients with advanced disease may require surgery. Hepatic resection and liver transplantation are accepted procedures in selected patients. Conclusion The importance of early diagnosis to prevent advanced complications such as development of Budd–Chiari syndrome and metastasis has been underlined. PMID:25600725

  5. arnold school of public health arnold school of public health

    E-print Network

    Almor, Amit

    in a personal battle with pancreatic cancer. Determined to beat the grim diagnosis, Mr. Arnold studied pancreatic cancer and found a physician who had successfully treated terminal cancer through a macrobiotic

  6. Arnold Schwarzenegger BIOMASS TO ENERGY

    E-print Network

    Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY Informatics Group, LLC Notice of Change in Scenario Naming Conventions Key assumptions, modeling structures modeling domain (critical to the final renewable energy technology comparisons). The vegetation domain

  7. Arnold Schwarzenegger LIGHTING RESEARCH PROGRAM

    E-print Network

    Arnold Schwarzenegger Governor LIGHTING RESEARCH PROGRAM PROJECT 2.1 HYBRID OUTDOOR LIGHTING Energy Commission's Lighting Research Program Project Manager from 2002­2005. Don was the consummate; Noah Horowitz, Natural Resources Defense Council; Amy Cortese, Northwest Energy Efficiency Alliance

  8. Arnold Schwarzenegger LIGHTING RESEARCH PROGRAM

    E-print Network

    Arnold Schwarzenegger Governor LIGHTING RESEARCH PROGRAM PROJECT 4.1 HOTEL AND INSTITUTIONAL Energy Commission's Lighting Research Program Project Manager from 2002­2005. Don was the consummate, Sempra Utilities; Noah Horowitz, Natural Resources Defense Council; Amy Cortese, Northwest Energy

  9. Arnold Schwarzenegger INTERMITTENCY ANALYSIS PROJECT

    E-print Network

    Associates, Inc. and Intermittency Analysis Project Team California Wind Energy Collaborative (CWEC. Intermittency Analysis Project: Summary of Final Results. California Energy Commission, PIER Research Arnold Schwarzenegger Governor INTERMITTENCY ANALYSIS PROJECT: FINAL REPORT Prepared For

  10. Congenital spinal lipomatous malformations

    Microsoft Academic Search

    Natarajan Muthukumar

    2009-01-01

    Background  To report this author’s experience with patients with a congenital spinal lipomatous malformation with special emphasis on\\u000a variations in clinical presentation, operative findings, and outcome based on the classification scheme proposed in the first\\u000a part of this two part article.\\u000a \\u000a \\u000a \\u000a Methods  From January 1995 to July 2005, 80 patients with a congenital spinal lipomatous malformation were treated. All patients underwent\\u000a routine

  11. Peripheral Vascular Malformations

    Microsoft Academic Search

    Peter Littler; Peter Rowlands

    \\u000a Peripheral vascular malformations are uncommon lesions and are thought to be due to a focal persistence of primitive vascular\\u000a elements.\\u000a \\u000a \\u000a Vascular malformations are not neoplastic. They are subdivided into high-flow and low-flow lesions. High-flow lesions are\\u000a arterial; low-flow lesions are venous, capillary, or lymphatic.\\u000a \\u000a \\u000a \\u000a It is important that these lesions are evaluated and treated by a specialist with experience in

  12. [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

  13. Cardiovascular Malformations Among Preterm Infants

    Microsoft Academic Search

    Kirsty Tanner; Nilofer Sabrine; Christopher Wren

    2010-01-01

    Objective. Preterm birth and cardiovas- cular malformations are the 2 most common causes of neonatal and infant death, but there are no published population-based reports on the relationship between them. We undertook this study to determine the preva- lence and spectrum of cardiovascular malformations in a preterm population, the prevalence of prematurity among infants with cardiovascular malformations, and the influence

  14. Giant lymphatic malformation

    Microsoft Academic Search

    Sharon Tamir; Ronit Agid; Doron Halperin; Jean-Yves Sichel

    2006-01-01

    Lymphatic malformations (LM) are rare, often presenting as congenital abnormal growth of lymphatic vessels diagnosed most commonly in the pediatric population.We report a case of an adult women presenting with a giant LM of the neck and mediastinum reaching the upper part of the retroperitoneum, manifesting itself as bilateral supraclavicular neck masses accompanied with an abdominal mass.

  15. Michael L. Arnold Publications PUBLICATIONS Books

    E-print Network

    Arnold, Jonathan

    1 Michael L. Arnold ­ Publications PUBLICATIONS ­ Books 1. Arnold, M.L. 2008. Reticulate Evolution Evolution. Gene (ISSN 2073-4425). PUBLICATIONS ­ Journal Articles, Review Articles, Book Chapters and Essays

  16. Lymphatic malformations: diagnosis and management.

    PubMed

    Elluru, Ravindhra G; Balakrishnan, Karthik; Padua, Horacio M

    2014-08-01

    Lymphatic malformations are benign vascular lesions that arise from embryological disturbances in the development of the lymphatic system. They encompass a wide spectrum of related abnormalities, including cystic lymphatic lesions, angiokeratoma, lymphatic malformations that occur in bones (Gorham-Stout Syndrome), lymphatic and chylous leak conditions, and lymphedema. This article will focus only on lymphatic malformation mass lesions, whereas other related disease entities will be covered elsewhere in this journal issue. Lymphatic malformations occur frequently in lymphatic-rich areas such as the head and neck region, but they can also be found on any anatomical site in the body. In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts contained within the lesion. Lymphatic malformations can cause both deformation of the anatomical site involved and functional deficits. The goal of this article is to discuss the etiology, epidemiology, treatment modalities, and comorbidities associated with lymphatic malformations. PMID:25241095

  17. 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

  18. Arteriovenous malformation management

    Microsoft Academic Search

    Wayne F. Yakes; Plinio Rossi; Henk Odink

    1996-01-01

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our\\u000a institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the\\u000a initial nonivasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is\\u000a performed under general anesthesia. Depending on the size

  19. Fibrin sealant augmentation with autologous pericranium for duraplasty after suboccipital decompression in Chiari 1 patients: A case series

    PubMed Central

    Lam, Fred C.; Penumaka, Anirudh; Chen, Clark C.; Fischer, Edwin G.; Kasper, Ekkehard M.

    2013-01-01

    Background: The Chiari 1 malformation (CM1) involves decent of the tonsils of the cerebellum through the foramen magnum. Symptomatic disease requires a posterior fossa decompression with or without an expansile duraplasty. To date, the optimal surgical treatment for CM1 has not been delineated. The extent of bony removal, size of the dural opening, necessity for expansion of the dural space, choice of materials for the duraplasty, and possible need for augmentation with dural sealant are all factors that continue to be debated amongst neurological surgeons worldwide. We herein evaluate the use of fibrin sealant augmentation in combination with locally harvested autologous pericranium for duraplasty in adult CM1 decompression. Methods: Retrospective data collected from January 2006 to December 2011. Data were reviewed for surgical site infection or meningitis, cerebrospinal fluid leak, symptomatic pseudomeningocele, radiographic improvement of hindbrain compression, and postoperative recurrence of symptoms at a minimum of 1 year of follow-up. Outcomes were studied clinically, radiographically, as well as by using a patient-specific questionnaire. Results: Twenty-two consecutive patients were included. One patient required a revision for a delayed graft dehiscence in the setting of a rare form of aseptic meningitis with cerebrospinal fluid (CSF) pleocytosis due to a nonsteroidal anti-inflammatory drug (NSAID) allergy. All remaining patients had successful decompressions with full resolution of their symptoms except for one patient who had persistent headaches. Conclusion: Autologous pericranium with dural sealant augmentation is an effective technique for expansile duraplasty in CM1 decompressions. PMID:23493237

  20. Acute Liver Failure Due to Budd-Chiari Syndrome in the Setting of Cardiac Synovial Sarcoma

    PubMed Central

    Newton, Kelly; Vinayak, Ajeet G.

    2015-01-01

    Primary malignant tumors of the heart, specifically cardiac sarcomas, are rare and mainly diagnosed at autopsy. Acute Budd-Chiari syndrome is a recognized cause of acute liver failure and has been associated with several rare cardiac tumors: atrial myxoma, caval rhabdomyosarcoma, and primary cardiac adenocarcinoma. We present the first case of a fatal, highly differentiated cardiac synovial sarcoma that presented as acute liver failure from Budd-Chiari syndrome.

  1. Arnold Schwarzenegger BIOMASS TO ENERGY

    E-print Network

    Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY;3-2 #12;Appendix 3: B2E Forest Operations and Equipment Configuration Principal Authors: Tad Mason, TSS of Forest Operations and Equipment Configuration Domain The Forest Operations and Equipment Configuration

  2. Arnold Schwarzenegger RESEARCH ON MANUFACTURING

    E-print Network

    Hicks, Principal Investigator Yan Sun, Research Assistant David Tobin, Research Assistant Dick Cheng, Research Assistant Gangyi Chen, Research Assistant Los Angeles, CA 90095 Grant No. 00-014 Prepared ForArnold Schwarzenegger Governor RESEARCH ON MANUFACTURING QUADRUPLE-JUNCTION SOLAR CELLS Prepared

  3. Arnold Schwarzenegger THE CARBON DIOXIDE

    E-print Network

    i Arnold Schwarzenegger Governor THE CARBON DIOXIDE ABATEMENT POTENTIAL OF CALIFORNIA'S MID, Afzal Siddiqui, and Judy Lai. 2011. The Carbon Dioxide Abatement Potential of California's Mid/Agricultural/Water EndUse Energy Efficiency · Renewable Energy Technologies · Transportation The Carbon Dioxide

  4. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)

    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.

  5. Brainstem cavernous malformations.

    PubMed

    Petr, O; Lanzino, G

    2015-09-01

    Of all cavernous malformations (CMs), 4% to 35% are found in the brainstem accounting for 13% of vascular malformations of the posterior fossa. The annual risk of hemorrhage associated with a CM with no history of a previous hemorrhagic episode is very low ranging from 0.6% to 1.1% per year. However, the risk of recurrent hemorrhage after a presenting bleed is significantly higher. There is a correlation between the extent of persistent neurological deficits and the number of recurrent hemorrhages as rehemorrhage increases the rate and severity of neurological deficits. Neurological deficits often improve after a hemorrhagic event spontaneously and sometimes resolve completely. The indication for surgery in patients with brainstem CMs is controversial. Over the years, we have taken a more cautious stance and we often recommend observation in patients after a single symptomatic bleed as most patients return to a good level of functioning after a single bleed. Surgery is recommended for more aggressive lesions usually after a recurrent bleed. In general, given the very low risk of bleeding from truly asymptomatic lesions, surgery should not be considered in these patients. For symptomatic lesions which have presented with hemorrhage, the decision of whether or not to proceed with surgical resection is related to the risk of surgery, patient's disposition and perceived risk of rebleeding. Favorable outcome can be achieved through surgical resection after an appropriate selection of the patients and thorough preoperative surgical planning. PMID:25943871

  6. 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

  7. Anencephaly and its Associated Malformations

    PubMed Central

    Meshram, Pritee Madan; Hattangdi, Shanta Sunil

    2014-01-01

    Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development. Aim: The present study was undertaken to find the associated congenital malformations in western region of India and establish a aetiological correlation. Materials and Methods: The study was conducted using 20 anencephalic fetuses. Results: Nearly 80% of fetuses had associated malformations. Spina bifida was seen in 9 fetuses and cleft palate in 8. Female fetus with cleft palate had other severe associated gastrointestinal and skeletal malformation. Conclusion: In cases of anencephaly other associated malfor–mations like spina bifida and cleft palate are commonly seen. PMID:25386414

  8. Colon Perforation and Budd-Chiari Syndrome in Behçet’s Disease

    PubMed Central

    Ba?, Y?lmaz; Güney, Güven; Uzbay, P?nar; Zobac?, Ethem; Ardal?, Selin; Özkan, Ay?egül Taylan

    2015-01-01

    Patient: Female, 38 Final Diagnosis: Behçet’s disease Symptoms: Severe abdominal pain • fever Medication: — Clinical Procedure: Parsiyel colectomy Specialty: Surgery Objective: Unusual clinical course Background: Behçet’s disease is a chronic inflammatory disease involving multiple systems, with vasculitis being the most important pathological feature. Multiple colon perforations are thought to be secondary to vasculitis and they occur in patients with ulcers. These may be encountered within the entire colon but most commonly in the ileocecal region. Intestinal perforation and Budd-Chiari syndrome are infrequent in Behçet’s disease, and are associated with high mortality and morbidity. Budd-Chiari syndrome results from occlusion of either hepatic veins or adjacent inferior vena cava, or both. Case Report: We report a patient with Behçet’s disease having multiple perforations in the transverse colon, descending colon, and sigmoid colon. The patient also had Budd-Chiari syndrome due to inferior vena cava thrombosis extending into the right and middle hepatic vein. Our observations are presented with a review of the literature. Conclusions: In Behçet’s disease, treatment of colon perforation necessitates urgent surgery, whereas management of Budd-Chiari syndrome is directed towards the underlying cause. Behçet’s disease, as a chronic multisystemic disease with various forms of vasculitis, is resistant to medical and surgical treatment. Prognosis is worse in Behçet’s disease with colon perforation than that in Budd-Chiari syndrome alone. PMID:25934795

  9. Imaging of congenital lung malformations.

    PubMed

    Chowdhury, Moti M; Chakraborty, Subhasis

    2015-08-01

    Congenital lung malformations are a heterogeneous group of anomalies that involve the lungs and tracheobronchial tree (congenital airway pulmonary malformation, bronchial atresia, bronchogenic cyst, congenital lobar overinflation, pulmonary cyst, hamartoma, pulmonary isomerism and azygous lobe), vascular abnormalities (arteriovenous malformations, anomalous pulmonary venous return, pulmonary artery sling, interrupted pulmonary artery, pulmonary varix, pulmonary vein stenosis and pulmonary lymphangiectasia), or frequently both entities (pulmonary sequestration, pulmonary maldevelopment and scimitar syndrome). Advances in diagnostic imaging (including sonography, multi-detector computer tomography, magnetic resonance imaging and angiography) have increased their detection during both antenatal and postnatal periods, and radiological characterisation, which in turn influence patient counselling and management stratification. An educational illustration of the clinical application in characterisation of these malformations is presented. PMID:26051049

  10. 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…

  11. 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…

  12. Abruptio Placentae during Fetal Myelomeningocele Repair

    Microsoft Academic Search

    Ricardo Barini; Maria Weber G. Barreto; Kleber Cursino; Herder Zambelli; Adilson Prando; Lourenço Sbragia

    2006-01-01

    Myelomeningocele (MM) is a congenital neural tube defect with serious consequences, including hydrocephaly. An important hope for intrauterine repair is that hydrocephaly may be prevented by reversing the Arnold-Chiari malformation. Three medical centers in the United States are doing trials with this objective. We describe an intrauterine correction of MM in a Brazilian research center of fetal medicine, which resulted

  13. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  14. The results of Chiari pelvic osteotomy in adolescents with a brief literature review

    Microsoft Academic Search

    Mohsen Karami; Franck Fitoussi; Brice Ilharreborde; Georges-François Penneçot; Keyvan Mazda; Henri Bensahel

    2008-01-01

    Purpose  Chiari medial displacement osteotomy is a procedure that uses the cancellous bone of the ilium to contain the femoral head\\u000a and bear weight. It is the most contraversial osteotomy of the hip joint. This study was therefore conducted to determine\\u000a the results of this osteotomy with mid-term follow-up in children.\\u000a \\u000a \\u000a \\u000a Methods  From 1995 to 2004, 20 Chiari pelvic osteotomies (in 18

  15. 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.

  16. 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

  17. 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

  18. Intralesional radiofrequency in venous malformations.

    PubMed

    Garg, S; Kumar, S; Singh, Y B

    2015-03-01

    Venous malformations are usually asymptomatic and managed conservatively. Treatment, in the form of laser, sclerotherapy, or resection, is needed only if lesions present with symptoms or cosmetic deformity. The aim of this study was to find out how effective radiofrequency ablation was in patients with incomplete or unsatisfactory resolution of a venous malformation after an intralesional injection of bleomycin. During the 5 year period 2008-2012, we organised a prospective, clinical study at a tertiary care centre. Patients were selected from the outpatient department of the Lady Hardinge Medical College and associated hospitals, New Delhi, India. Five patients with venous malformations were treated by intralesional injection of bleomycin in a dose of 0.5U/kg body weight, which was repeated every 2 weeks for a total of 8 injections. They then had multiple intralesional radiofrequency ablation every 2 months until a satisfactory outcome was achieved. After the initial 8 doses the reduction in the size of the lesions was minimal (less than 50%). After 2-4 applications of radiofrequency ablation there was appreciable reduction in the size of the lesions (about 80%) with good functional and cosmetic outcomes. Radiofrequency ablation is an effective adjunct for patients with venous malformations of the head and neck that have not responded satisfactorily to intralesional injection of bleomycin. To our knowledge radiofrequency ablation after intralesional injection of bleomycin has not previously been described as a treatment for venous malformations. PMID:25554592

  19. 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.

  20. [Surgical treatment of lymphatic malformations].

    PubMed

    Lavie, A; Desouches, C; Casanova, D; Bardot, J; Magalon, G

    2006-01-01

    Lymphatic malformations remain a therapeutic challenge. Many treatments by the past led to poor success. The wide variety of clinical presentations makes it difficult to outline specific management programs. Often, diagnosis or complication circumstances as infection, bleeding, airway obstruction, or handicap force acting. Thus, a specific follow-up joined to a multidisciplinary analysis are the key of well-planned surgery. Through our experience and a review of literature, we will describe principles of lymphatic malformations surgery and specific technics for specific locations. PMID:17007979

  1. Arnold Schwarzenegger WATER HEATERS AND HOT WATER

    E-print Network

    Arnold Schwarzenegger Governor WATER HEATERS AND HOT WATER DISTRIBUTION SYSTEMS;#12;Appendices Appendix A. Multifamily Water Heating Construction Practices, Pricing and Availability Survey Report Appendix B. Multifamily Water Heating Controls Performance Field Report Appendix C. Pipe

  2. Arnold Schwarzenegger DEVELOPING WAVE ENERGY IN

    E-print Network

    Arnold Schwarzenegger Governor DEVELOPING WAVE ENERGY IN COASTAL CALIFORNIA: POTENTIAL SOCIO. Developing Wave Energy In Coastal California: Potential Socio-Economic And Environmental Effects. California-ECONOMIC AND ENVIRONMENTAL EFFECTS Prepared For: California Energy Commission Public Interest Energy Research Program

  3. Arnold Schwarzenegger REAL-TIME GRID RELIABILITY

    E-print Network

    Arnold Schwarzenegger Governor REAL-TIME GRID RELIABILITY MANAGEMENT California ISO Real Laboratory Consortium for Electric Reliability Technology Solutions APPENDIXC October 2008 CEC-500 (VSA) prototype to monitor system voltage conditions and provide real time dispatchers with reliability

  4. Three-dimensional tori and Arnold tongues

    SciTech Connect

    Sekikawa, Munehisa, E-mail: sekikawa@cc.utsunomiya-u.ac.jp [Department of Mechanical and Intelligent Engineering, Utsunomiya University, Utsunomiya-shi 321-8585 (Japan)] [Department of Mechanical and Intelligent Engineering, Utsunomiya University, Utsunomiya-shi 321-8585 (Japan); Inaba, Naohiko [Organization for the Strategic Coordination of Research and Intellectual Property, Meiji University, Kawasaki-shi 214-8571 (Japan)] [Organization for the Strategic Coordination of Research and Intellectual Property, Meiji University, Kawasaki-shi 214-8571 (Japan); Kamiyama, Kyohei [Department of Electronics and Bioinformatics, Meiji University, Kawasaki-shi 214-8571 (Japan)] [Department of Electronics and Bioinformatics, Meiji University, Kawasaki-shi 214-8571 (Japan); Aihara, Kazuyuki [Institute of Industrial Science, the University of Tokyo, Meguro-ku 153-8505 (Japan)] [Institute of Industrial Science, the University of Tokyo, Meguro-ku 153-8505 (Japan)

    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.

  5. Congenital malformations associated with anencephaly and iniencephaly

    Microsoft Academic Search

    T J David; A Nixon

    1976-01-01

    The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in

  6. The association of venous and cavernous malformations

    Microsoft Academic Search

    D. Rigamonti; R. F. Spetzler

    1988-01-01

    Summary Four cases of venous malformation associated with a cavernous malformation are reported. Because cavernous malformations are often angiographically occult and do not have a characteristic appearance on computed tomography (CT), they are seldom recognized preoperatively and may be missed if the surgical specimen is not carefully reviewed.

  7. Arteriovenous malformations in Cowden syndrome.

    PubMed

    Turnbull, M M; Humeniuk, V; Stein, B; Suthers, G K

    2005-08-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder. PMID:16061556

  8. Arteriovenous malformation of the oral cavity.

    PubMed

    Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit

    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

  9. Neuroimaging of cerebral cavernous malformations.

    PubMed

    Klostranec, J M; Krings, T

    2015-09-01

    Cerebral cavernous malformations (CCMs) are vascular malformations of the brain and brainstem that arise via a number of different mechanisms and can result in non-specific presentations. Therefore, medical imaging is essential in the diagnosis of these lesions and important to guide their clinical or surgical management. MRI is the modality of choice with newer protocols, such as susceptibility weighted imaging, playing an increasingly important role in the detection of CCMs. In this review we will discuss lesion structure, its proposed origins, and common lesion presentations and complications, before covering their expected appearances with different imaging modalities. We conclude with a discussion of insights about lesion behaviour acquired from advanced imaging techniques and provide a general approach to characterizing and diagnosing CCM lesions with neuroimaging. PMID:25968928

  10. A computer model for evaluating the osteotomy parameters of Chiari pelvic osteotomy.

    PubMed

    Karami, Mohsen; Gouran Savadkoohi, Dariush; Ghadirpoor, Ali; Rahimpour, Sina; Rahimpoor, Sina; Azghani, Mahmood; Farahmand, Farzam

    2010-03-01

    This study was conducted to evaluate the effect of the various osteotomy parameters on the biomechanical aspects of the hip joint on a computerised model. The data of the radiographs and a three-dimensional (3D) CT scan of six patients with coverage deficient hip joint were used to construct a 3D computer model. Then Chiari type osteotomies were simulated using various heights, angles and fibrocartilage thicknesses. A new angle called the mid acetabular center edge (MACE) angle was defined in a mid coronal CT cut. The optimum displacement for obtaining the maximum coverage averaged 73%. The angle and height of the osteotomy had a significant effect on the MACE angle (P value < 0.01). Our findings of these Chiari parameters may change the results of the osteotomy. The probability of adapting the proximal osteotomy segment to a deformed femoral head was explained by the model and a modified osteotomy "multiple height osteotomy" was proposed. PMID:19352657

  11. An embolus in the right atrium caught in the Chiari network and resistant to thrombolysis

    Microsoft Academic Search

    Zuzana Motovska; Petr Widimsky; Dana Bilkova; Martin Penicka; Hana Linkova; Dana Kautznerova; Miroslav Kolesar; Ludmila Koldová; Jan Kvasnicka

    2010-01-01

    Case report is presented, which describes a patient with thromboemboli trapped in the Chiari network within the right heart\\u000a and resistant to thrombolysis. The right atrial masses were completely removed under cardiopulmonary bypass. Histological\\u000a evaluation confirmed a mixed thromboemboli, with thrombus structures showing signs of organization and surrounded by a fibrous\\u000a capsule. A heterozygous methylenetetrahydrofolate reductase gene polymorphism was found,

  12. 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.

  13. [Congenital vascular malformations (Hauert disease)].

    PubMed

    Hauert, J; Loose, D A; Dreyer, T; Obermayer, B; Deibele, A

    2012-06-01

    Patients with congenital vascular malformations often suffer from arthralgia, especially of the lower limbs. This orthopaedic disease pattern is defined as destructive, angiodysplatic arthritis or Hauert disease and leads to very early destruction of the joints. By presenting diagnostic and therapeutic algorithms, Hauert disease is emphasized as a possible differential diagnosis in order to minimize the risk of an incorrect diagnosis which might lead to under-, over-, or even incorrect treatment. A minimally invasive transathroscopic therapy in the early stages can lead to significant improvement of symptoms and prevention of progressive joint destruction. PMID:22699760

  14. Scalp arteriovenous malformations in young

    PubMed Central

    Gupta, Rakesh; Kayal, Akshat

    2014-01-01

    Scalp arteriovenous malformations are an exceptional group of vascular lesions with curious presentations and an elusive natural history. Their detection in the pediatric population is a rarer occurrence. We discuss our experience with five children suffering from this pathology and their surgical management carried at our institution from 2007 to 2013. The genesis in pediatric patients is, usually, spontaneous in contrast with the history of trauma seen in adults. Clinical symptoms, usually, range from an asymptomatic lesion, local discomfort, headaches to necrosis and massive hemorrhage. Selective angiography remains the cornerstone for investigation. Complete surgical excision, embolization or an approach combining the modalities is curative. PMID:25624933

  15. [Surgical treatment of arteriovenous malformations].

    PubMed

    Casanova, D; Bardot, J; Bartoli, J-M; Magalon, G

    2006-01-01

    MAV surgery remains still today one of most difficult in the surgery of vascular malformations. Embolisation the most selective possible follow-up of a surgical removal carrying the totality of the nidus is the only effective treatment. Usually, MAV of small size, quiescent, should not be operated, the surgery being reserved for the evolutionary or complicated forms. This surgical procedure must allow the complete eradication of the lesion without which the cure is not possible. The incomplete removal causes repetition, sometimes aggravation with, sometimes, life threatening problems. PMID:17007986

  16. Arnold Schwarzenegger AIRCRAFT MEASUREMENTS OF THE

    E-print Network

    Arnold Schwarzenegger Governor AIRCRAFT MEASUREMENTS OF THE IMPACTS OF POLLUTION AEROSOLS ON CLOUDS Prentice piloted the Cheyenne II cloud physics aircraft during SUPRECIP1, and Mr. Gary Walker, Manager Conservation District, piloted this aircraft in SUPRECIP2. Mr. Kevin McLaughlin piloted the Cessna 340 aerosol

  17. Arnold Schwarzenegger AIRCRAFT MEASUREMENTS OF THE

    E-print Network

    Arnold Schwarzenegger Governor AIRCRAFT MEASUREMENTS OF THE IMPACTS OF POLLUTION AEROSOLS ON CLOUDS Documentation of the SUPRECIP2 Program Appendix C. The SOAR Research Aircraft During SUPRECIP2 Appendix D Data for Flights of the Cloud Physics and Aerosol Aircraft #12; #12;APA-1 Appendix A Worldwide

  18. Ants in Parking Lots Arnold L. Rosenberg

    E-print Network

    Massachusetts at Amherst, University of

    Ants in Parking Lots Arnold L. Rosenberg Electrical & Computer Engineering Colorado State University Fort Collins, CO 80523, USA rsnbrg@colostate.edu Abstract Ants provide an attractive metaphor of ant-based computation models. We study the ability of ant-robots that are essentially mobile finite

  19. A. Elizabeth ARNOLD1 *, Zuleyka MAYNARD2

    E-print Network

    Arnold, A. Elizabeth

    of woody, angiospermous taxa in a lowland, moist tropical forest in central Panama! . We use similarity1502 A. Elizabeth ARNOLD1 *, Zuleyka MAYNARD2 and Gregory S. GILBERT3 " Department of Ecology biodiversity. Endophytes are especially little known in tropical forest trees, where their abundance

  20. Arnold Schwarzenegger NOVEL APPROACHES FOR THE

    E-print Network

    Arnold Schwarzenegger Governor NOVEL APPROACHES FOR THE RECLAMATION AND REUSE OF POWER PLANT: Sahimi, Muhammad and Theodore T. Tsotsis. 2005. Novel Approaches for the Reclamation and Reuse of Power of the University of Southern California. The report is entitled Novel Approaches for the Reclamation and Reuse

  1. Arnold Schwarzenegger REAL-TIME GRID RELIABILITY

    E-print Network

    Arnold Schwarzenegger Governor REAL-TIME GRID RELIABILITY MANAGEMENT Prototype Phasor-Based Real January 31, 2006 #12;Slide 1 Agenda Phasor Technology ­ Overview The Importance of Using Synchronized Data Displays Client Support RTDMS Application Demo #12;Slide 2 Phasor Technology Overview #12;Slide 3 Load

  2. Arnold Schwarzenegger REAL-TIME GRID RELIABILITY

    E-print Network

    Arnold Schwarzenegger Governor REAL-TIME GRID RELIABILITY MANAGEMENT California ISO Phasor .........................................................................................................3 1.2. Overview of WECC-CA ISO Phasor Network ................................................................................................................21 LIST OF FIGURES Figure 1: Current and Future WECC-California ISO Phasor Data Communication Network

  3. Arnold Schwarzenegger INDOOR-OUTDOOR AIR LEAKAGE

    E-print Network

    -outdoor temperature difference. Driving Forces for Air Infiltration With mechanical ventilation systems off, the driving forces for air infiltration through the building envelope are wind, which exerts pressure on walls Arnold Schwarzenegger Governor INDOOR-OUTDOOR AIR LEAKAGE OF APARTMENTS AND COMMERCIAL

  4. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Microsoft Academic Search

    Beverley Newman

    2006-01-01

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions

  5. A Framework for Detecting Malformed SMS Attack

    Microsoft Academic Search

    M Zubair Rafique; Muhammad Khurram Khan; Khaled Alghathbar; Muddassar Farooq

    2011-01-01

    Malformed messages in different protocols pose a serious threat because they are used to remotely launch malicious activity. Furthermore, they are capable of crashing servers and end points, sometimes with a single message. Recently, it was shown that a malformed SMS can crash a mobile phone or gain unfettered access to it. In spite of this, little research has been

  6. 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.

  7. Cerebellar malformations: some pathogenetic considerations.

    PubMed

    Urich, H

    1979-01-01

    1) Destructive processes are responsible for most cases of cerebellar microgyria of the trabecular pattern. Erosion and subsequent fusion of the folia produce the disorganized pattern in which the various cellular elements retain their noraml relationship and are capable of normal maturation. Intrauterine infection is responsible for most cases; the evidence is conclusive in some cases, presumptive in others. 2) Faulty genetic coding, as illustrated by the trisomies, may lead to formation of heterotopias. The primitive cells aggregating around the dentate nucleus should be interpreted as matrix cells and not as cells of the external granular layer. Cortical heterotopias with attempted internal organisation also occur; their origin is obscure. The unusual, possibly unique, transposition of the internal granular and Purkinje cell layers observed in one case may be ascribed to faulty formation of the Bergmann glia by analogy with the weaver mouse. 3) It is impossible at present to disentangle the role of genetic and environmental factors in the pathogenesis of the hysraphic malformations. It is possible, however, that defective fusion of the intraventricular cerebellar primordium plays a part in the development of the Dandy-Walker malformation, of midine cerebellar clefts in some cases of occipital encephalocele, and of extra-axial ependymal cysts of the posterior fossa. PMID:233076

  8. Early diagnosis of Budd-Chiari syndrome by computed tomography and ultrasonography: report of five cases.

    PubMed

    Baert, A L; Fevery, J; Marchal, G; Goddeeris, P; Wilms, G; Ponette, E; De Groote, J

    1983-03-01

    In 5 patients with Budd-Chiari syndrome, computed tomography after intravenous bolus injection of iodinated contrast agents demonstrated images not previously seen in other diseases. The images are compatible with stagnation of contrast material at the periphery of the liver. In 3 of the 5 cases, grey-scale ultrasonography failed to document the normal hepatic veins draining into the inferior caval vein, but showed an intrahepatic network of comma-shaped venous structures. It is proposed that these two noninvasive approaches can help in establishing an early diagnosis. PMID:6822327

  9. Biliary Obstruction After Transjugular Intrahepatic Portosystemic Shunt Placement in a Patient With Budd-Chiari Syndrome

    PubMed Central

    Korrapati, Praneet; Komanduri, Srinadh

    2015-01-01

    A 20-year-old male presented with 2 months of progressive abdominal distension due to ascites and Budd-Chiari syndrome. He underwent transjugular intrahepatic portosystemic shunt (TIPS) placement, but soon after had elevated liver enzymes. MRCP revealed mild left intrahepatic biliary dilatation without stones or obvious stricture. Endoscopic retrograde cholangiopancreatography (ERCP) demonstrated a focal stricture due to compression by the TIPS. The stricture was dilated and a 10 Fr x 15-cm plastic stent was placed with excellent biliary drainage. The patient's symptoms and liver tests normalized within 1 week. This is the first case of biliary obstruction due to TIPS placement effectively managed by ERCP.

  10. Use of gallium-67 liver imaging for the early diagnosis of Budd-Chiari syndrome

    SciTech Connect

    Garty, I.; Horovitz, I.; Keynan, A.

    1984-03-01

    A gallium-67 study, performed in a rare case of Budd-Chiari syndrome (BCS) in a 6-yr-old child, showed marked concentration of the tracer in the left and caudate lobes of the liver. Ten days later, a less specific and clear-cut appearance of left- and caudate-lobe concentration of Tc-99m phytate was obtained. The possible use of Ga-67 citrate imaging to diagnose BCS in its earliest stage is suggested, although no firm conclusion can be made from this single case.

  11. Biliary Obstruction After Transjugular Intrahepatic Portosystemic Shunt Placement in a Patient With Budd-Chiari Syndrome.

    PubMed

    Korrapati, Praneet; Bidari, Kiran; Komanduri, Srinadh

    2015-01-01

    A 20-year-old male presented with 2 months of progressive abdominal distension due to ascites and Budd-Chiari syndrome. He underwent transjugular intrahepatic portosystemic shunt (TIPS) placement, but soon after had elevated liver enzymes. MRCP revealed mild left intrahepatic biliary dilatation without stones or obvious stricture. Endoscopic retrograde cholangiopancreatography (ERCP) demonstrated a focal stricture due to compression by the TIPS. The stricture was dilated and a 10 Fr x 15-cm plastic stent was placed with excellent biliary drainage. The patient's symptoms and liver tests normalized within 1 week. This is the first case of biliary obstruction due to TIPS placement effectively managed by ERCP. PMID:26157927

  12. A case of Budd-Chiari syndrome associated with alveolar echinococcosis.

    PubMed

    Karadas, Sevdegul; Cumhur, Dulger Ahmet; Bilge, Gultepe; Mehmet, Beyazal; Mustafa, Kosem

    2014-04-01

    Alveolar echinococcosis of the liver is caused by the tapeworm Echinococcus multilocularis. Budd-Chiari Syndrome (BCS) is a hepatic venous outflow tract obstruction and involves abdominal pain, hepatomegaly and high-gradient ascites. A low-gradient ascites in connection with the syndrome rarely occurs in case of alveolar echinococcosis of the liver. Here we report a 20-year-old man with the syndrome and low-gradient ascites due to a huge liver mass. Further diagnostic examination revealed alveolar echinococcosis of the liver. Diuretic agents and albendazole were used as palliative therapy in the case. PMID:24864647

  13. A gene map of congenital malformations.

    PubMed Central

    Wilkie, A O; Amberger, J S; McKusick, V A

    1994-01-01

    Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed. PMID:7966186

  14. Cephalic Pancreaticoduodenectomy for Bleeding Duodenal Arteriovenous Malformation

    PubMed Central

    Ortiz, Ruben; Dominguez, Eva; Barrena, S.; Martinez, Leopoldo; Prieto, Gerardo; Burgos, Emilio; Tovar, Juan Antonio

    2014-01-01

    Introduction?Treatment of recurrent severe gastrointestinal bleeding due to arteriovenous malformations may require complex resections. In some particular locations, extensive surgery is the only way out, as shown in this report. Case Report?A 2.5-year-old child suffered repeated episodes of upper gastrointestinal bleeding since the first month of life. After an extensive diagnostic workout, the diagnosis of duodenal arteriovenous malformation was established. Cephalic pancreaticoduodenectomy with pyloric preservation was performed and no further episodes of bleeding occurred in the ensuing 2 years. Conclusion?Bleeding malformations located in the pancreaticoduodenal area can be effectively treated in children by pylorus-preserving cephalic pancreaticoduodenectomy. PMID:25755960

  15. Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings

    Microsoft Academic Search

    I Vargel; P KIRATLI; D AKINCI; Y ERK

    2004-01-01

    Benign vascular lesions can be classified into two categories depending on clinical behaviour and endothelial cell characteristics: neoplasms (haemangiomas) and vascular malformations. However, intraosseous vascular anomaly, previously called intraosseous haemangioma, is a very rare malformation. In our previous study, we described the first hereditary form of intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS). Characteristic findings are

  16. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  17. 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 ; ...

  18. 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

  19. 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…

  20. ON "ARNOLD'S THEOREM" ON THE STABILITY OF THE SOLAR SYSTEM

    E-print Network

    Féjoz, Jacques

    ON "ARNOLD'S THEOREM" ON THE STABILITY OF THE SOLAR SYSTEM JACQUES F´EJOZ Abstract: Arnold 0 as the Sun and the other bodies as n planets revolving around the Sun. In our Solar System is a breakthrough in respect of the oldest question in Dy- namical Systems --the stability of the Solar System. Yet

  1. Nature, frequency and natural history of intracranial cavernous malformations in adults 

    E-print Network

    Hall, Julie Maria

    2014-07-05

    Scottish Intracranial Vascular Malformation Study was the first prospective, population-based study of the major types of intracranial vascular malformations; arteriovenous, cavernous and venous malformations including ...

  2. [The lymphatic malformations: clinical aspects and evolution].

    PubMed

    Salazard, B; Londner, J; Casanova, D; Bardot, J; Magalon, G

    2006-01-01

    Lymphatic malformations (LM) are the most frequent vascular malformations. There are three types of lesions involving lymphatic development that must be included in LM: vascular anomalies and knots (truncal malformations [TLM]); cystic anomalies, superficial or deep, uni- or multicystic (extratruncal malformations [ETLM]) and hemolymphatic anomalies which combine venous, arterial, or capillary malformations with LM. ETLM can be ubiquitously distributed but most are located in the cervical or axillary regions. Most ETLM are diagnosed at birth and in 80-90% of the cases before the age of 2. The clinical aspects are extremely variable: superficial ETLM (vesicular) and deep ETLM, localised or diffuse, mono- or multicystic. TLM are generally located on a lower limb with neonatal lymphatic oedema (often in a polymalformation context). All forms of the hemolymphatic combination can be identified. They are generally located on the limbs and are often unilateral. They are usually sporadic but can also be can be found in polymalformation syndromes (Klippel-Trénaunay, Parkes-Weber, Protée, Maffucci). ETLM generally tend to increase in volume and spread with age with stabilisation at puberty. They do not tend to spontaneously regress. Specific local complications can have serious consequences. They are linked to haemorrhaging, infections and compression phenomena. There can also be complications such as skeletal and soft tissue hypertrophy. PMID:17007978

  3. Nonsurgical management of vascular malformation of masseter.

    PubMed

    Jayaraman, Venkatesh; Austin, Ravi David; Kannan, Saravanan

    2015-01-01

    Intramuscular vascular anomalies are rare congenital hamartomatous lesions. Less than 1% of these occur in skeletal muscle out of which 15% arise in head and neck musculature. In the head and neck region, masseter muscle is the most common site. It accounts for about 5% of intramuscular vascular malformations. They are present from birth but are clinically apparent during infancy and childhood and occasionally during adulthood. Due to its location it is often mistaken for a parotid swelling. The usual treatment of choice is surgical excision with a margin. This is associated with loss of motor function, hemorrhage, nerve damage. Intralesional sclerotherapy, embolization are nonsurgical alternatives for treatment of slow flow venous malformations. Sclerotherapy can be used solely in multiple sittings or as an adjunct to surgery. This article presents a case report of a 28-year-old male with recurrent intramuscular vascular malformation in the masseter muscle, which was successfully treated by ethanol sclerotherapy. PMID:25961625

  4. Air Embolism after Endoscopic Retrograde Cholangiopancreatography in a Patient with Budd Chiari Syndrome

    PubMed Central

    Wills-Sanin, Beatriz; Cárdenas, Yenny R.; Polanco, Lucas; Rivero, Oscar; Suarez, Sebastian; Buitrago, Andrés F.

    2014-01-01

    Endoscopic retrograde cholangiopancreatography is a procedure commonly used for the diagnosis and treatment of various pancreatic and biliary diseases. Air embolism is a rare complication, which may be associated with this procedure. This condition can be manifested as cardiopulmonary instability and/or neurological symptoms. Known risk factors include: sphincterotomy; application of air with high intramural pressure; anatomic abnormalities; and chronic hepatobiliary inflammation. It is important for the health-care staff, including anesthesiologists, interventional gastroenterologists, and critical care specialists, amongst others, to promptly recognize air embolism and to initiate therapy in a timely fashion, thus preventing potentially fatal outcomes. We submit a brief review of the literature and a case report of air embolism which occurred in the immediate postoperative stage of an endoscopic retrograde cholangiopancreatography, performed in a woman with a history of liver transplantation due to Budd Chiari syndrome and biliary stricture. PMID:25478242

  5. The epidemiology of brain arteriovenous malformations in adults 

    E-print Network

    Al-Shahi, Rustam

    Arteriovenous malformations (AVMs) of the brain are part of the spectrum of intracranial vascular malformations (IVMs). They are the leading cause of intracerebral haemorrhage in young adults, they account for ~10% of non-traumatic subarachnoid...

  6. 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.

  7. Massive localised lymphoedema: a rare vascular malformation

    PubMed Central

    Williams, K J; Al-Sakkal, M N; Alsafi, A; Davies, A H

    2013-01-01

    Lymphatic malformations are a subset of congenital vascular malformations, and are caused by a defect in lymphatic development during embryogenesis. When lymphatic mesoderm development is prematurely arrested, it retains it proliferative potential. Stimulus in the future can cause the lesion to proliferate locally without coordination or regulation, resulting in the rare condition known as massive localised lymphoedema (MLL). We present a case report of MLL, a rare and ill-defined soft tissue mass reported in the morbidly obese, with reference to the existing literature. PMID:23761611

  8. 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

  9. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    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.

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

    SciTech Connect

    Quateen, A. [Charite Campus Virchow Clinic, Universitaetsmedizin Berlin, Department of Diagnostic and Interventional Radiology (Germany); Pech, M. [University of Magdeburg, Department of Radiology and Nuclear Medicine (Germany); Berg, T.; Bergk, A. [Charite Campus Virchow Clinic, Universitaetsmedizin Berlin, Department of Hepatogastroenterology (Germany); Podrabsky, P.; Felix, R. [Charite Campus Virchow Clinic, Universitaetsmedizin Berlin, Department of Diagnostic and Interventional Radiology (Germany); Ricke, J. [University of Magdeburg, Department of Radiology and Nuclear Medicine (Germany)], E-mail: jens.ricke@medizin.uni-magdeburg.de

    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.

  11. Genetics Home Reference: Microcephaly-capillary malformation syndrome

    MedlinePLUS

    ... with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; breakdown ; capillaries ; cell ; degrade ; developmental ...

  12. Entrapment of a floating thrombus in the right atrium by persistent Chiari's network: a barrier to massive pulmonary embolism.

    PubMed

    Rizzello, Vittoria; Lombardo, Antonella; Colizzi, Christian; Pennestrì, Faustino

    2009-02-01

    Syncope may be a manifestation of pulmonary embolism. Occlusion of a pulmonary artery with cardiac output drop, sometimes resulting in cardiac arrest, is the main underlying mechanism. In this letter we describe the case of a patient in which the persistence of a long remnant of the embryonal Chiari's network could have worked as an anatomic barrier preventing massive pulmonary embolism and cardiac arrest. PMID:18035436

  13. On the topological complexity of tree languages Andre Arnold1

    E-print Network

    Niwinski, Damian

    .arnold@club-internet.fr, Jacques.Duparc@unil.ch, {fmurlak,niwinski}@mimuw.edu.pl 1 Introduction Since the discovery of irrational of descriptive complexity, which measures difficulty by the amount of logic necessary to describe a given

  14. An Interview with Arnold Bank: Designer, Letterer, and Master Calligrapher.

    ERIC Educational Resources Information Center

    Gregory, Anne

    1985-01-01

    Arnold Bank, emeritus professor of design at Carnegie-Mellon University in Pittsburgh, Pennsylvania, has been one of the most inspiring teachers of calligraphy, paleography, and typography in the United States. His life and work are discussed. (RM)

  15. Arnold Schwarzenegger A DESIGN GUIDE FOR EARLY-MARKET

    E-print Network

    Arnold Schwarzenegger Governor A DESIGN GUIDE FOR EARLY-MARKET ELECTROCHROMIC WINDOWS SAGE Electrochromics, Inc. Micheal Myser SAGE Electrochromics, Inc. John Durschinger Skidmore, Owings provided enthusiastic and dedicated guidance, engineering support, and materials for our electrochromic

  16. Interventional treatment of pulmonary arteriovenous malformations.

    PubMed

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-09-28

    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

  17. Traitement chirurgical des malformations lymphatiques

    Microsoft Academic Search

    A. Lavie; C. Desouches; D. Casanova; J. Bardot; G. Magalon

    2006-01-01

    Lymphatic malformations remain a therapeutic challenge. Many treatments by the past led to poor success. The wide variety of clinical presentations makes it difficult to outline specific management programs. Often, diagnosis or complication circumstances as infection, bleeding, airway obstruction, or handicap force acting. Thus, a specific follow-up joined to a multidisciplinary analysis are the key of well-planned surgery. Through our

  18. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanis?aw; Gierach, Marcin; Gierach, Joanna; ?wi?taszczyk, Cyprian; Junik, Roman; Lasek, W?adys?aw

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  19. Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations

    PubMed Central

    Nishioka, Yujiro; Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Arita, Junichi; Sakamoto, Yoshihiro; Hasegawa, Kiyoshi; Kokudo, Norihiro

    2015-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations.

  20. 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

  1. Treatment of arteriovenous malformations of the brain

    Microsoft Academic Search

    Andreas Hartmann; Henning Mast; Jae H. Choi; Christian Stapf; Jay P. Mohr

    2007-01-01

    The treatment of ruptured and unruptured brain arteriovenous malformations (AVMs) is driven by the need to prevent incident\\u000a or recurrent intracranial hemorrhages. Improving feasibility of the rapidly developing endovascular, neurosurgical, and radiotherapeutic\\u000a procedures leads to invasive treatment of an increasing number of neurologically intact patients with accidentally diagnosed\\u000a AVMs. Recent data confirm that the natural history risk of unruptured AVMs

  2. Two patients with proatlas segmentation malformation

    Microsoft Academic Search

    Shangchen Xu; Qi Pang; Kaining Zhang; Hu Zhang

    2010-01-01

    A 58-year-old female and an 18-year-old male patient had progressive spastic quadriparesis of 10 years and 6 months duration, respectively. Proatlas segmentation malformation (PSM) was confirmed using three-dimensional (3D) reconstructive CT scans and MRI. Surgical procedures in one patient involved anterior decompression via a transoropharyngeal approach, cranial traction, and posterior occipital–cervical fixation and fusion. His postoperative neurological status had improved

  3. Fixed point theorems in the Arnol'd model about instability of the actionvariables in phasespace

    E-print Network

    Perfetti, Paolo

    ' 2 +cos t)) I 2 R 2 (``Arnol'd model about diffusion''); by means of fixed point theorems tools suggested by Arnol'd i.e. the contraction mapping method togheter with the ``conical metric: Arnold diffusion, whiskers, Poincar'e map, fixed point theorem, stable manifold, unstable manifold

  4. Fixed point theorems in the Arnol'd model about instability of the actionvariables in phasespace

    E-print Network

    ' 2 +cos t)) I 2 R 2 (``Arnol'd model about diffusion''); by means of fixed point theorems tools suggested by Arnol'd i.e. the contraction mapping method togheter with the ``conical metric theorem (``Arnol'd diffusion'') is stated Assume 0 ! A ! B: For any '' ? 0 there exists a ¯ o (''; A; B

  5. On the Arnold cat map and periodic boundary conditions for planar elongational flow

    E-print Network

    On the Arnold cat map and periodic boundary conditions for planar elongational flow THOMAS A. HUNT) In this paper we show that the periodic boundary conditions used to simulate planar elongational flow are closely related to the Arnold cat map. In particular the relationship between the Arnold cat map

  6. Complex malformation of the inferior vena cava.

    PubMed

    Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D

    2014-01-01

    Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422

  7. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

    Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

  8. 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

  9. A case of Budd-Chiari syndrome: Gd-EOB-DTPA-enhanced MR findings.

    PubMed

    Kitajima, Kazuhiro; Yoshikawa, Takeshi; Seo, Yasushi; Ohno, Yoshiharu; Yano, Yoshihiko; Miki, Akira; Kanda, Tomonori; Kanata, Naoki; Azuma, Takeshi; Sugimura, Kazuro

    2011-05-01

    Budd-Chiari syndrome (BCS) is a rare disorder caused by the obstruction of hepatic venous outflow, leading to sinusoidal congestion, ischemic injury to liver cells and portal hypertension. Long-term survival largely depends on whether hepatocellular carcinoma occurs. A recently available liver-specific contrast medium, gadolinium-ethoxybenzyl-diethylenetriamine penta-acetic acid (Gd-EOB-DTPA), reportedly has high diagnostic capability for detection of malignant liver tumors. However, there has been no report of the sue of Gd-EOB-DTPA-enhanced magnetic resonance imaging (MRI) for BCS. We present a case of chronic BCS who underwent both gadopentetate dimeglumine (Gd-DTPA) and Gd-EOB-DTPA-enhanced MRI. Hepatic congestion and edema were seen as slightly hypointense areas on Gd-EOB-DTPA-enhanced hepatobiliary-phase images, although these areas were observed as slightly hyperintense on previously obtained Gd-DTPA-enhanced delayed-phase image. Reduced uptake of Gd-EOB-DTPA by hepatocytes in the region of congestion or edema may account for this difference, which should be recognized in image interpretations. PMID:21216550

  10. Ultrasonographic Visualization of Accessory Hepatic Veins and Their Lesions in Budd-Chiari Syndrome.

    PubMed

    Cai, Shi-Feng; Gai, Yong-Hao; Ma, Shuang; Liang, Bo; Wang, Guang-Chuan; Liu, Qing-Wei

    2015-08-01

    The aim of this study was to investigate the ultrasonographic features of accessory hepatic veins (AHVs) and their lesions in Budd-Chiari syndrome (BCS). Three hundred patients with BCS were examined by ultrasonography with multifrequency (3-6 MHz) convex transducers. Sonography was performed 1 to 2 wk before digital subtraction angiography and computed tomography angiography or magnetic resonance imaging. Using sonograms, we evaluated the number, course, diameter, orifice, lesions and hemodynamics of patent and obstructed AHVs. Ultrasonography was superior to digital subtraction angiography, computed tomography angiography and magnetic resonance imaging in revealing AHV lesions and hemodynamics. Dilated AHVs were detected in 227 patients. There were 239 caudate lobe veins in 167 patients and 168 inferior right hepatic veins in 151 patients. Both caudate lobe veins and inferior right hepatic veins were found in 91 of the 227 patients. The inlets to AHVs were located mainly on the right lateral or right anterior wall of the inferior vena cava, and the remnant, on the left lateral wall. AHV lesions comprised mainly septal obstruction and segmental stenosis. The hemodynamics of AHVs varied with the condition of inferior vena cava and AHVs. Ultrasonic examination can reveal AHVs and their lesions in patients with BCS and is helpful in choosing and planning therapeutic approaches. PMID:25952161

  11. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents - diagnosis, clinic, and therapy.

    PubMed

    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

  12. Intraosseous mandibular artero-venous malformations: case report.

    PubMed

    Siniscalchi, Enrico Nastro; Minutoli, Fabio; Catalfamo, Luciano; Romano, Fabio; Longo, Marcello; De Ponte, Francesco Saverio

    2009-03-01

    Intraosseous mandibular artero-venous malformations (AVMs) are rare (5% of all vascular malformations) but of great clinical importance. They can lead to dental emergencies and may cause disfigurement, morbidity, and even death. We describe the radiological appearance and the endovascular treatment of a rare high-flow vascular malformation of the mandibular body resembling a dental cyst, embolized by Guglielmi's detachable coils (GDC). PMID:19027310

  13. Macrocephaly–capillary malformation syndrome: Three new cases

    Microsoft Academic Search

    Inusha Panigrahi; Mani Bhushan; Mukesh Yadav; Niranjan Khandelwal; Pratibha Singhi

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and\\/or

  14. 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.

  15. Associated malformations among infants with neural tube defects.

    PubMed

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

    2011-03-01

    Infants with neural tube defects (NTDs) often have associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695

  16. 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.

  17. 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

  18. 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

  19. 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

  20. Surgical management of pediatric cerebral arteriovenous malformations

    Microsoft Academic Search

    David Rubin; Alejandro Santillan; Jeffrey P. Greenfield; Mark Souweidane; Howard A. Riina

    2010-01-01

    Background  Arteriovenous malformations (AVMs) are the most common cause of intracerebral hemorrhage in children. Different options exist\\u000a for their successful management consisting of surgery, endovascular embolization, stereotactic radiosurgery, or a combination\\u000a of these treatments.\\u000a \\u000a \\u000a \\u000a \\u000a Discussion  In this paper, we discuss the different treatment modalities in the treatment of pediatric cerebral AVMs emphasizing the role\\u000a of surgery and endovascular embolization as a preoperative

  1. Management of unbled brain arteriovenous malformation study.

    PubMed

    Mohr, J P; Yaghi, Shadi

    2015-05-01

    In a recent trial limited to arteriovenous malformations discovered not to have bled, medical management was superior to medical management plus intervention. The trial was halted after 226 randomizations and a mean follow-up of 3.3 years owing to a disparity favoring the medical arm. Eligible patients were selected as suitable for lesion eradication. The initial sample size of 800 and follow-up plans for a mean of 7 years were lowered and shortened, respectively, by the outcome data. An application for extended follow-up was given poor priority scores owing to estimations that the disparities in outcomes would not change significantly. PMID:25907910

  2. 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

  3. Longterm followup in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary

    E-print Network

    Institut des Sciences Cognitives, CNRS

    Longterm followup in 12 children with pulmonary arteriovenous malformations: confirmation@yahoo.fr OBJECTIVE: To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary

  4. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

    PubMed Central

    Moog, U; Jones, M; Bird, L; Dobyns, W

    2005-01-01

    Background: Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males. Objective: To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS. Results: There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum sometimes associated with interhemispheric cysts, and a novel mid-hindbrain malformation. The latter consisted of a giant and dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres in most cases, and a large posterior fossa fluid collection. Conclusions: The mid-hindbrain malformation appears pathognomonic for OCCS. The eye and skin features of OCCS show considerable overlap with several other syndromes, such as encephalocraniocutaneous lipomatosis, oculo-auriculo-vertebral spectrum, and focal dermal hypoplasia, none of which has a comparable pattern of brain malformations. In particular the unique mid-hindbrain malformation also distinguishes OCCS from related syndromes with comparable forebrain anomalies. The pattern of malformation described thus helps in differentiating OCCS from other entities. The mid-hindbrain malformation points to a defect of the mid-hindbrain organiser as the underlying pathogenic mechanism. PMID:15879499

  5. COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS

    Microsoft Academic Search

    M. H. Khalessi; M. Motesaddi Zarandi; P. Borghei; S. Abdi

    Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings, complications, and post- operative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average

  6. Metabolic characteristics of cortical malformations causing epilepsy

    PubMed Central

    Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.

    2009-01-01

    Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity. PMID:15868069

  7. IMPLEMENTING LNS USING FILTERING UNITS OF GPUS Mark Arnold

    E-print Network

    Paris-Sud XI, Université de

    IMPLEMENTING LNS USING FILTERING UNITS OF GPUS Mark Arnold Department of Computer Science specialized graphics hardware in addi- tion to generic floating-point processing units. We propose a method which reuses specialized texture filtering units to perform piecewise polynomial evaluations, which

  8. Space testing at the Arnold Engineering Development Center

    Microsoft Academic Search

    Robert W. Smith

    1995-01-01

    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

  9. Hybrid fitness across time and habitats Michael L. Arnold1

    E-print Network

    Aspbury, Andrea S. - Department of Biology, Texas State University

    Hybrid fitness across time and habitats Michael L. Arnold1 and Noland H. Martin2 1 Department in the evolutionary process. One question has involved the relative fitness of hybrid versus non-hybrid genotypes. For some, the assumption of lower hybrid fitness continues to be integral to their concept of species

  10. Improving weapons of mass destruction intelligence Arnold Kanter

    E-print Network

    Deutch, John

    1 Improving weapons of mass destruction intelligence Arnold Kanter The Scowcroft Group 900;2 Combating the spread of weapons of mass destruction (WMD) is one of the most important foreign policy of nuclear capability by sub-national states and the security of WMD weapons, materials, and technology

  11. A Nonhereditary Borel-cover -set Arnold W. Miller 1

    E-print Network

    Miller, Arnold W.

    A Nonhereditary Borel-cover -set Arnold W. Miller 1 Abstract In this paper we prove that if there is a Borel-cover -set of car- dinality the continuum, then there is one which is not hereditary properties of sets de#12;ned by certain Borel covering properties. De#12;ne. An !-cover of a set X

  12. A Nonhereditary Borel-cover -set Arnold W. Miller1

    E-print Network

    Miller, Arnold W.

    A Nonhereditary Borel-cover -set Arnold W. Miller1 Abstract In this paper we prove that if there is a Borel-cover -set of car- dinality the continuum, then there is one which is not hereditary properties of sets defined by certain Borel covering properties. Define. An -cover of a set X is a family

  13. Logic in Context Arnold Neumaier and Flaviu Adrian Marginean

    E-print Network

    Neumaier, Arnold

    Logic in Context Arnold Neumaier and Flaviu Adrian Marginean Fakult¨at f¨ur Mathematik, Universit to the paper. Abstract. Context logic formalizes the way mathematicians apply logic in their reasoning, shifting context as they find it useful. Context logic is defined by only three axioms ­ simple reflection

  14. 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

  15. Mid-hindbrain malformations due to drugs taken during pregnancy.

    PubMed

    Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva

    2014-04-01

    Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117

  16. Transposition of external genitalia and associated malformations.

    PubMed

    Meguid, Nagwa Abdel; Temtamy, Samia A; Mazen, Inas

    2003-01-01

    We report three Egyptian boys from three different families born with penoscrotal transposition (PST). None of them fell into categories of known syndromes, associations, sequences or chromosome disorders. Other malformations observed included renal, genital, cardiovascular and limb defects. Although the occurrence of most reported cases of PST are sporadic, three families with affected sibs have been reported in the literature where parental consanguinity was not specified. Parental consanguinity is present in two of our three cases with young parental age suggesting the possibility of an autosomal recessive pattern of inheritance. A history of maternal hormonal treatment early in pregnancy in one of our cases may suggest a role of teratogenic agents. We conclude that PST may represent only a part of a wide spectrum of anomalies resulting from a major insult occurring during early embryonic development and is of heterogeneous etiology. PMID:12514368

  17. Two patients with proatlas segmentation malformation.

    PubMed

    Xu, Shangchen; Pang, Qi; Zhang, Kaining; Zhang, Hu

    2010-05-01

    A 58-year-old female and an 18-year-old male patient had progressive spastic quadriparesis of 10 years and 6 months duration, respectively. Proatlas segmentation malformation (PSM) was confirmed using three-dimensional (3D) reconstructive CT scans and MRI. Surgical procedures in one patient involved anterior decompression via a transoropharyngeal approach, cranial traction, and posterior occipital-cervical fixation and fusion. His postoperative neurological status had improved remarkably, with imaging showing good realignment of the occipito-atlanto-axial complex with comfortable decompression of the cervico-medulla junction and relief of syringomyelia. MRI and 3D-CT scans are the definitive diagnostic tools for PSM, and appropriate aggressive surgical intervention should be undertaken. PMID:20188566

  18. Computational analyses of arteriovenous malformations in neuroimaging.

    PubMed

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

    2015-05-01

    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. 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.

  20. Pulmonary arteriovenous malformations and their mimics.

    PubMed

    Gill, S S; Roddie, M E; Shovlin, C L; Jackson, J E

    2015-01-01

    Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between the pulmonary arteries and veins, which result in a right-to-left (R-L) shunt with resultant hypoxemia, the severity of which will depend upon the size and number of lesions. Most PAVMs occur in individuals with hereditary haemorrhagic telangiectasia (HHT) and are a cause of serious morbidity and mortality largely related to cerebrovascular complications secondary to paradoxical embolization. The importance of their recognition and treatment by embolization, even in the absence of symptoms, is well known. Their appearances on chest radiographs are often, but not always, characteristic and the CT appearances are diagnostic; however, there are a number of both vascular and non-vascular diseases that can cause confusion. This review serves to highlight these PAVM "mimics". PMID:25443645

  1. [Surgical treatment of vascular malformations in children and adolescents].

    PubMed

    Haxhija, E Q; Spendel, S; Höllwarth, M E

    2009-04-01

    Vascular malformations are inborn errors of vasculogenesis in localised regions of the body. They are present at birth and grow proportionally with the child without ever showing any tendency to regress. This fact distinguishes them clearly from haemangiomas, which represent vascular tumours with high proliferation during the first year of life followed by a slow involution thereafter. The strategy for the treatment of vascular malformations differs substantially from the one for haemangiomas. According to the type of vascular malformation, the treatment may consist in laser therapy, sclerotherapy, selective embolisation, and/or surgical resection. Whereas systemic medication may save the life of children with life-threatening haemangiomas, such treatment would have no significant effect in children with vascular malformations. The aim of the surgical treatment is to perform a complete resection of the malformation in order to prevent its recurrence. However, since vascular malformations often have an infiltrative growth, frequently only subtotal resections can be performed to avoid unacceptable functional or cosmetic disfigurement of the body. Generally, an optimal management of children with vascular malformations includes a multidisciplinary approach with critical consideration of all potential treatment procedures. PMID:19085820

  2. Localization and treatment of lingual venous and arteriovenous malformations.

    PubMed

    Wiegand, Susanne; Tiburtius, Janna; Zimmermann, Annette P; Güldner, Christian; Eivazi, Behfar; Werner, Jochen A

    2014-02-01

    Venous and arteriovenous malformations of the tongue can cause haemorrhage, airway obstruction, difficulties in chewing and swallowing, speech problems as well as orthodontic abnormalities. The purpose of the present study was to evaluate their exact topography, clinical features, morphologic aspects and management. A retrospective review on all patients with venous and arteriovenous malformations of the tongue who presented between 1998 and 2010 was performed. Medical records were analysed with respect to age and sex distribution, exact localization, symptoms and clinical presentation, management and treatment outcome. Forty-four patients with tongue malformations were analysed. The malformations affected all areas of the tongue as well as the base of the tongue without predilection areas. Nd:YAG laser and CO2 laser therapy provided good results primarily in localized malformations, while in advanced malformations the management was multi-modal since a complete surgical excision was often impossible. The hypothesis that vascular malformations of the tongue occur more frequently along the course of the feeding vessels cannot be confirmed. The therapeutic approach is determined by the exact topography, haemodynamic properties, morphologic aspects and related clinical symptoms as well as patient-specific features. PMID:24558029

  3. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  4. Contribution of Rare Copy Number Variants to Isolated Human Malformations

    PubMed Central

    Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

    2012-01-01

    Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

  5. Use of the AngioJet percutaneous thrombectomy system for the treatment of acute Budd-Chiari syndrome

    PubMed Central

    Doyle, Adam; Nicoll, Amanda; Dowling, Richard

    2013-01-01

    A 31-year-old woman presented to our emergency department with an acute liver injury secondary to acute Budd-Chiari (BC) syndrome from hepatic vein thrombosis. After a thorough discussion of the risks involved, we proceeded to treatment with a novel approach, performing a mechanical hepatic vein thrombectomy with the AngioJet percutaneous thrombectomy system. Restoration of hepatic vein flow was confirmed with on-table Doppler ultrasound. There were no complications following the procedure. The patient was initiated on anticoagulation, and showed progressive clinical and laboratory improvement. She was discharged home on day 20 with normal liver function and biochemistry. This is the first reported case of successful mechanical thrombectomy in acute BC syndrome without the addition of angioplasty or chemical thrombolysis. PMID:23737569

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

    SciTech Connect

    Lominac, J.K.; Edwards, R.C. (Arnold Engineering Development Center, Arnold Air Force Station, TN (USA)); Timmerman, C.L. (Pacific Northwest Lab., Richland, WA (USA))

    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.

  7. Pulmonary vascular malformation complicating cryptococcal pneumonia in an immunocompetent patient

    PubMed Central

    Liu, Fang; Chen, Hanzhang; Zhu, Hailong; Li, Shuai; Gu, Pan; Fang, Xia; Wu, Yunjin; Zhang, Suxia; Zhang, Lanjing; Yi, Xianghua

    2014-01-01

    An immunocompetent 50-year-old male presented with slight cough and occasional lung congestion. The radiologic findings included diffuse, bilateral reticular and one nodular opacity at the upper lobe of right lung without clear margin. A wedge resection of the lesion showed disordered distribution of the medium-sized vessels and arterioles, several arterioles densely gathered including a few occlusive arterioles, or medium veins dilated with irregular and elongated cavity, indicating the existence of vascular malformation. Interestingly, near to the malformed vessels, a large area of necrosis with granulomatous inflammation was found. Of note, numerous intracytoplasmic organisms with a nucleus, a wall and a thick capsule, were free in the alveoli or located within the macrophages and polykaryocytes, suggesting cryptococci infection. This is to our best knowledge the first case showing concurrent vascular malformation and local pulmonary cryptococcosis, and vascular malformation was likely an important pathological predisposing factor for local pulmonary cryptococcosis infection. PMID:24696743

  8. 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

  9. Topographic anatomy of the fetal inferior vena cava, coronary sinus, and pulmonary veins: Variations in Chiari's network.

    PubMed

    Naito, Michiko; Yu, Hee Chul; Kim, Ji Hyun; Rodríguez-Vázquez, José Francisco; Murakami, Gen; Cho, Baik Hwan

    2015-07-01

    To understand anomalies in Chiari's network better, we assessed the topographical anatomy of the fetal inferior vena cava (IVC), coronary sinus, and atria. We examined sagittal serial paraffin sections of 15 human fetuses of crown-rump length 24-36 mm, corresponding to a gestational age of 8 weeks. Although their outflow tract morphologies were similar, these 15 specimens could be classified into two groups. In eight specimens, the left common cardinal vein reached the body wall, whereas in the other seven the vein was obliterated near the left pulmonary vein. Irrespective of the group in which the specimen was included, the anteroposterior arrangement of the coronary sinus, the sinus septum (septum), and the right sinus valve (right valve) could be classified into three types: the right valve-septum-coronary sinus arrangement in seven specimens; the right valve-coronary sinus-septum arrangement in five; and the coronary sinus-right valve-septum arrangement in three. Depending on differences in topographical anatomy, the sinus septum separated the coronary sinus opening from either the right or the left atrium. Likewise, the coronary sinus opening was either adjacent to or distant from the IVC terminal. Rather than the counter-side position of the right valve being at the IVC terminal, the left sinus valve protruded leftward, forming an incomplete interatrial septum. Fetal variations seemed to be closely connected with individual variations and a high frequency of Chiari's network anomalies in adults. Clin. Anat. 28:627-637, 2015. © 2014 Wiley Periodicals, Inc. PMID:25425533

  10. Internship experience at the Arnold Arboretum of Harvard University 

    E-print Network

    Faris, Marissa D.

    2001-01-01

    was granted full control of the plant collections and landscape. This unique agreement made the Arnold Arboretum of Harvard University a part of the Emerald Necklace, an eight-mile series of parks and green spaces that wind through Boston. Charles Sprague..., 2001). We cut back overgrown, wayward, crossing, and rubbing branches to the ground while trying to maintain each plant's natural shape (Windsor, 1997). A few young, strong leading branches were left to become the main branches and to maintain...

  11. Ultra lters with property (s) Arnold W. Miller 1

    E-print Network

    Miller, Arnold W.

    Ultra#12;lters with property (s) Arnold W. Miller 1 Abstract A set X #18; 2 ! has property (s such that Q #18; X or Q\\X = ;. Suppose U is a nonprincipal ultra#12;lter on !. It is not diÆcult to see that if U is preserved by Sacks forc- ing, i.e., it generates an ultra#12;lter in the generic extension

  12. Allelic and locus heterogeneity in inherited venous malformations

    Microsoft Academic Search

    Jennifer T. Calvert; J. Riney; Christopher D. Kontos; Eugene H. Cha; V ictor G. Prieto; Christopher R. Shea; Jonathan N. Berg; Norman C. Nevin; Sheila A. Simpson; Krystyna A. Pasyk; Marcy C. Speer; Kevin G. Peters; Douglas A. Marchuk

    1999-01-01

    Venous malformations are low-flow vascular lesions consisting of disorganized thin-walled vascular channels. These can occur sporadically but also as an autosomal dominant condition termed venous malformations, cutaneous and mucosal (VMCM; OMIM 600195). In two large unrelated kindreds map- ping to chromosome 9, the identical R849W mis- sense mutation was identified in the first kinase domain of Tie2, an endothelial cell-specific

  13. Split cord malformation type I distal to segmental myelomeningocele.

    PubMed

    Addas, Bassam M

    2014-12-01

    The coexistence of myelomeningocele (MMC) and split cord malformation (SCM) is a well-known phenomenon. The SCM is usually above or at the level of the MMC. Split cord malformation distal to the MMC is considered to be the rarest form of such a combination. We report a case of SCM (type I) distal to the MMC diagnosed pre-operatively. Repair of the MMC and the SCM were carried out in the same setting. PMID:25551117

  14. Occupational exposure to glycol ethers and human congenital malformations

    Microsoft Academic Search

    George Maldonado; Elizabeth Delzell; Rochelle W. Tyl; Lowell E. Sever

    2003-01-01

    ObjectivesThis commentary reviews toxicological information and critically evaluates epidemiological information on the relationship between glycol ethers and congenital malformations.MethodsThe authors identified and assessed toxicological and epidemiological research on glycol ethers used in occupational settings and congenital malformations. Sensitivity analyses evaluated the possible role of methodological problems in explaining the findings of the epidemiological studies.ResultsExposure to certain glycol ethers, including ethylene

  15. 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.

  16. Sharing Bags of Tasks Optimally in Heterogeneous Clusters Micah Adler and Ying Gong and Arnold L. Rosenberg

    E-print Network

    Adler, Micah

    Sharing Bags of Tasks Optimally in Heterogeneous Clusters Micah Adler and Ying Gong and Arnold L Clusters Authors: Micah Adler Ying Gong Arnold L. Rosenberg (Fellow, IEEE) Address: Department of Computer,gongy,rsnbrgg@cs.umass.edu Corresponding Author: Arnold L. Rosenberg Acknowledgments. The research of M. Adler was supported in part by NSF

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

    SciTech Connect

    Carnevale, Francisco Cesar, E-mail: fcarnevale@uol.com.br; Szejnfeld, Denis, E-mail: denis@cura.com.br; Moreira, Airton Mota [University of Sao Paulo Medical School, Service of Interventional Radiology, Instituto de Radiologia (Brazil); Gibelli, Nelson [University of Sao Paulo Medical School, Service of Pediatric Surgery, Instituto da Crianca Prof. Pedro de Alcantara (Brazil); Gregorio, Miguel Angel De [University of Zaragoza, Interventional Radiology Unit (Spain); Tannuri, Uenis [University of Sao Paulo Medical School, Service of Pediatric Surgery, Instituto da Crianca Prof. Pedro de Alcantara (Brazil); Cerri, Giovanni Guido [University of Sao Paulo Medical School, Service of Interventional Radiology, Instituto de Radiologia (Brazil)

    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.

  18. Cerebral Arteriovenous Malformation Associated with Moyamoya Disease

    PubMed Central

    Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han

    2014-01-01

    The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal carotid artery feeders by new external carotid artery feeders from the EDAS site. The AVM was eventually treated with gamma knife radiosurgery considering an increasing steal effect. The second case was a de novo AVM case. The patient was initially diagnosed with MMD, and acquired an AVM eight years later that was slowly fed by the reconstituted anterior cerebral artery. Because the patient remained asymptomatic, the AVM is currently being closely followed for more than 2 years without further surgical intervention. Possible differences in the pathogenesis and the radiologic presentation of these AVMs are discussed with a literature review. No solid consensus exists on the optimal treatment of MMD-associated AVMs. Gamma knife radiosurgery appears to be an effective treatment option for an incidental AVM. However, a de novo AVM may be managed expectantly considering the possible risks of damaging established collaterals, low flow characteristics, and probably low risks of rupture. PMID:25371789

  19. Surgical treatment of cerebral cavernous malformations.

    PubMed

    Davies, J M; Kim, H; Lawton, M T

    2015-09-01

    Cerebral cavernous malformations (CMs) are clusters of abnormally-formed, thin-walled blood vessels that tend to hemorrhage, resulting in focal neurological deficits, seizures, and even death, depending on the location of the lesion and extent of bleeding. Management of cerebral CMs can be reduced to the decision to observe or to surgically resect. The objective of the paper was to review options for surgical management of cerebral CMs. A university-based CM practice was examined for: 1) anatomical distribution of operatively managed CMs; and 2) surgical approaches to eloquent CMs. Although cerebral CMs can occur throughout the brain and can lead to significant neurological morbidity, even in highly eloquent locations, such as the brainstem, thalamus, and basal ganglia, experience demonstrates that the majority of CMs can be safely resected and that patients tend to experience long-term improvement in neurological function. The keys to good patient outcomes lie in appropriate patient selection and in thoughtful choice of a surgical approach that minimizes transgression of normal structures. PMID:25881653

  20. A 27-Year Experience With Surgical Treatment of Budd-Chiari Syndrome

    PubMed Central

    Orloff, Marshall J.; Daily, Pat O.; Orloff, Susan L.; Girard, Barbara; Orloff, Mark S.

    2000-01-01

    Objective To determine the effects of surgical portal decompression in Budd-Chiari syndrome (BCS) on survival, quality of life, shunt patency, liver function, portal hemodynamics, and hepatic morphology during periods ranging from 3.5 to 27 years. Summary Background Data Experiments in the authors’ laboratory showed that surgical portal decompression reversed the deleterious effects of BCS on the liver. This study was aimed at determining whether similar benefit could be obtained in patients with BCS. Methods From 1972 to 1999, the authors conducted prospective studies of the treatment of 60 patients with BCS who were divided into three groups: the first had occlusion confined to the hepatic veins treated by direct side-to-side portacaval shunt (SSPCS); the second had occlusion involving the inferior vena cava (IVC) treated by a portal decompressive procedure that bypassed the obstructed IVC; and the third group, who had advanced cirrhosis and hepatic decompensation and were referred too late for treatment by portal decompression, required orthotopic liver transplantation. Results In the 32 patients with BCS resulting from hepatic vein occlusion alone, SSPCS had a surgical death rate of 3%, and 94% of the patients were alive 3.5 to 27 years after surgery. All 31 survivors remained free of ascites and almost all had normal liver function. No patient with a patent shunt had encephalopathy. The SSPCS remained patent in all but one patient. Liver biopsies showed no evidence of congestion or necrosis, and 48% of the biopsies were diagnosed as normal. Mesoatrial shunt was performed in eight patients with BCS caused by IVC thrombosis. All patients survived surgery, but five subsequently developed thrombosis of the synthetic graft and died. Because of the poor results, mesoatrial shunt was abandoned. Instead, a high-flow combination shunt was introduced, consisting of SSPCS combined with a cavoatrial shunt (CAS) through a Gore-Tex graft. There were no surgical or long-term deaths among 10 patients who underwent combined SSPCS and CAS, and the shunts functioned effectively during 4 to 16 years of follow-up. Ten patients with advanced cirrhosis were referred too late to benefit from surgical portal decompression, and they were approved and listed for orthotopic liver transplantation. Three patients died of liver failure while awaiting a transplant, and four patients died after the transplant. The 1- and 5-year survival rates were 40% and 30%, respectively. Conclusions SSPCS in BCS with hepatic vein occlusion alone results in reversal of liver damage, correction of hemodynamic disturbances, prolonged survival, and good quality of life when performed early in the course of BCS. Similarly good results are obtained with combined SSPCS and CAS in patients with BCS resulting from IVC occlusion. In contrast, mesoatrial shunt has been discontinued in the authors’ program because of an unacceptable incidence of graft thrombosis and death. In patients with advanced cirrhosis from long-standing, untreated BCS, orthotopic liver transplantation is the only hope of relief and results in the salvage of some patients. The key to long survival in BCS is prompt diagnosis and treatment by portal decompression. PMID:10973384

  1. 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

  2. ELIZABETH H. AMARAL and H. ARNOLD CARR Experimental Fishing for Squid

    E-print Network

    ELIZABETH H. AMARAL and H. ARNOLD CARR Experimental Fishing for Squid With Lights in Nantucket Sound Nantucket Sound squid survey areas. Elizabeth H. Amaral and H. Arnold Carr consecutive years and has caught squid in them each year. He first be- came interested in this type of project

  3. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

    PubMed

    Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; Léauté-Labrèze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; González-Enseñat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka

    2013-12-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909

  4. 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

  5. Immune Response in Human Cerebral Cavernous Malformations

    PubMed Central

    Shi, Changbin; Shenkar, Robert; Du, Hongyan; Duckworth, Edward; Raja, Harish; Batjer, H. Hunt; Awad, Issam A.

    2009-01-01

    Background and Purpose Preliminary observations suggesting the presence of B and plasma cells and oligoclonality of immunoglobulin (Ig) G in cerebral cavernous malformations (CCMs) have motivated a systematic study correlating the infiltration of the immune cells with clinical activity and antigen-triggered immune response in surgically excised lesions. Methods Infiltration of plasma, B, T and HLA-DR expressing cells and macrophages within 23 excised CCMs was related to clinical activity. Relative amounts of Ig isotypes were determined. IgG clonality of mRNA from CCMs was assessed by spectratyping, cloning and sequencing. Results Infiltration of the immune cells ranged widely within CCM lesions and cells were generally co-expressed with each other. Immune cell infiltration did not associate with recent bleeding and lesion growth. Significantly more B lymphocytes in CCM lesions were associated with venous anomaly. More T cells were present in solitary lesions. More T cells and less macrophages were present in CCMs from younger subjects. IgG isotype was present in all CCM lesions. Most lesions also expressed IgM and IgA, with IgM predominance over IgA correlating with recent CCM growth. Oligoclonality was shown in IgG mRNA from CCMs, but not from peripheral blood lymphocytes, with only eight CDR3 sequences observed among 134 clones from two CCM lesions. Conclusions An antigen-directed oligoclonal IgG immune response is present within CCM lesions regardless of recent clinical activity. Apparent differences in immune response in younger patients and in lesions with recent growth will need confirmation in other series. The pathogenicity of oligoclonal immune response will require systematic hypothesis testing in recently available CCM murine models. PMID:19286587

  6. 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

  7. 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.

  8. 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.

  9. [Symptomatic paroxysmal dystonia (non-kinesigenic forms): two new cases].

    PubMed

    Uterga, J M; Portillo, M F; Iriondo, I; Cortina, C; Villaverde, F J; Huete, B

    1999-04-01

    We report two new cases of symptomatic paroxysmal non-kinesigenic dystonia. The first is a 68-year-old woman with paroxysmal spontaneous dystonic spasms in her right arm lasting 1 minute. They occurred 1-2/day, a few months after a cerebral infarction (left internal capsule and left lenticular nucleus) which occurred 6 years ago. The second is a 30-year-old woman with a 7-year-history of spontaneous dystonic postures (flexion spasms) in her left arm lasting 15 minutes and occurring monthly. In this case an Arnold-Chiari malformation with cervical syringomyelia was discovered. PMID:10363495

  10. [Situs inversus of the fibula: medialized fibula].

    PubMed

    Atalar, Hakan; Turanl?, Sacit; Atik, O ?ahap; Kaptan, Ahmet Yi?it; Ezgü, Fatih Süheyl

    2015-01-01

    Congenital extremity anomalies are caused by pathological changes during the development process of the embryo. Exposure to toxins during 4-12 weeks of pregnancy may lead to extremity anomalies. In this article, we present a girl patient born as one of triplets at the 31st week and fifth day of pregnancy with meningomyelocele, Arnold-Chiari type 2 malformation, developmental dysplasia of the right hip, hypothyroidism, and lower extremity anomaly. Mother had a history of antenatal usage of sodium valproate. Radiographic examination of the lower extremity showed medial location of the fibula. PMID:25741924

  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. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams.

  13. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)

    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.

  14. 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 ...

  15. 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

  16. Balloon-Occluded Retrograde Transvenous Embolization of a Pelvic Arteriovenous Malformation

    SciTech Connect

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke; Sumi, Seiya; Ogata, Ichiro; Takahashi, Mutsumasa [Department of Radiology, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860 (Japan); Kawakami, Shigeo; Ueda, Shohichi [Department of Urology, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860 (Japan)

    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.

  17. Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of

    E-print Network

    Schaffer, Chris B.

    Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement the arteriovenous (AV) interface are critical for tissue function. AV malformation (AVM) is a pathological, MA, and approved November 11, 2014 (received for review August 13, 2014) Arteriovenous (AV

  18. Embolization in high-flow arteriovenous malformations of the face.

    PubMed

    Komiyama, M; Khosla, V K; Yamamoto, Y; Tazaki, H; Toyota, N

    1992-06-01

    Five patients with arteriovenous malformations of the face (4 males and 1 woman; age range, 11-38 years) were treated by selective embolization through the feeding arteries with polyvinyl alcohol particles. Immediate gross angiographical obliteration was obtained in 4 patients, with pronounced reduction of the arteriovenous shunt in the fifth. Clinical symptoms including bleeding, swelling, pulsations, bruit, and disfigurement improved in all the patients followed up for a period of 6 to 21 months. Polyvinyl alcohol particle embolization, without surgical resection, though palliative could be useful in select patients. The classification and diagnosis of congenital vascular malformations is briefly reviewed and treatment discussed. PMID:1622040

  19. Incorporating Amphibian Malformation into Inquiry-Based Learning

    NSDL National Science Digital Library

    Brooke L. Talley

    2007-01-01

    Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.

  20. Pulmonary arteriovenous malformations presenting as refractory heart failure

    PubMed Central

    Chen, Kai-Hong; Huang, Guo-Yong; Song, Wei

    2014-01-01

    A 22-year-old young man with a history of idiopathic dilated cardiomyopathy (IDC) was admitted to our hospital due to difficult-to-control heart failure. A thoracic X-ray showed multiple nodules at the both pulmonary hilus and upper lobe of the right lung. Computed tomography (CT) angiography of the thorax confirmed arteriovenous malformation (AVM). However, effective treatment was impossible due to the poor physical condition; he died a few days later. Here we reported on the case of pulmonary arteriovenous malformations (PAVMs) being misdiagnosed as refractory heart failure. PMID:25276390

  1. 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

  2. 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

  3. 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.

  4. A new method for assessment of craniofacial malformations.

    PubMed

    Pelo, Sandro; Tassiello, Stefano; Boniello, Roberto; Gasparini, Giulio; Longobardi, Gianluigi

    2006-11-01

    Many assessments of craniofacial malformations are generally undertaken to assist in surgical intervention including physical examination, cephalometric radiographs in anteroposterior and lateral views, stereolithographic models, and anthropometric measurements integrated with three-dimensional computed tomography (3-D CT) reconstructions to quantify skeletal deformities. In the present report, the use of 3-D Malformation Analysis, a three-dimensional methodology for planning craniofacial operative procedures, is presented. In addition to cephalometric and anthropometric databases, the measurements from 3-D surface reconstructions from CT were used intraoperatively to establish the correct position of skeletal segments. PMID:17119401

  5. Incidence of anencephaly and other major malformations when oestriol excretion is very low

    Microsoft Academic Search

    L. DEAN; D. A. ABELL; N. A. BEISCHER

    1977-01-01

    A study of 533 women with very low urinary oestriol excretion during the third trimester of pregnancy showed an incidence of major fetal malformations among their infants of 7-1% and a perinatal mortality rate of 14-6%. Thirteen of the malformations were cases of anencephaly, and 26 of the 78 perinatal deaths were due to or associated with major fetal malformations.

  6. Size Estimation and Magnification Error in Radiographic Imaging: Implications for Classification of Arteriovenous Malformations

    E-print Network

    Cunningham, Ian

    of Arteriovenous Malformations Kost Elisevich, Ian A. Cunningham, and Leo Assis PURPOSE: To assess magnification error in digital subtraction angiography as it pertains to arteriovenous malformation (AVM) size schemes for AVMs have been hampered by this technical error. Index terms: Arteriovenous malformations

  7. Visualization and Analysis of Cerebral Arteriovenous Malformation combining 3D and 4D MR Image Sequences

    E-print Network

    Lübeck, Universität zu

    1 Visualization and Analysis of Cerebral Arteriovenous Malformation combining 3D and 4D MR Image-Eppendorf Abstract. In this paper methods for visualization and analysis of cerebral arteriovenous malformations (AVM angiography; cerebral arteriovenous malformation; maximum intensity projection; mutual information; image

  8. 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,…

  9. Portal vein aneurysm associated with Budd-Chiari syndrome treated with transjugular intrahepatic portosystemic shunt: a case report.

    PubMed

    Tsauo, Jiaywei; Li, Xiao

    2015-03-01

    A 65-year-old woman with Budd-Chiari syndrome (BCS) presented with right upper quadrant pain. A computed tomography (CT) scan showed a saccular aneurysm located at the extrahepatic portal vein main branch measuring 3.2 cm in height and 2.5 cm × 2.4 cm in diameter. The aneurysm was thought to be associated with BCS as there was no preceding history of trauma and it had not been present on Doppler ultrasound examination performed 3 years previously. Because of increasing pain and concern for complications due to aneurysm size, the decision was made to relieve the hepatic venous outflow obstruction. Transjugular intrahepatic portosystemic shunt (TIPS) was created without complications. She had complete resolution of her abdominal pain within 2 d and remained asymptomatic after 1 year of follow-up. CT scans obtained after TIPS showed that the aneurysm had decreased in size to 2.4 cm in height and 2.0 cm × 1.9 cm in diameter at 3 mo, and had further decreased to 1.9 cm in height and 1.6 cm × 1.5 cm in diameter at 1 year. PMID:25759562

  10. Cecal vascular malformation mimicking appendicitis in a child

    Microsoft Academic Search

    Sherif Emil; Siamak Milanchi; Adrian Goldstein

    2005-01-01

    A 5-year-old girl presented with abdominal pain suggestive of appendicitis. Intraoperatively, a solid cecal mass was identified\\u000a along with mesenteric adenopathy. A right hemicolectomy was performed. Pathologic examination revealed a vascular malformation\\u000a with evidence of recent hemorrhage.

  11. [MRI of malformative syringomyelia. Descriptive and developmental aspect].

    PubMed

    Bekkali, F; Doyon, D; Idir, A B; Belal, N; Hurth, M; Ayache, B; Ducot, B

    1992-02-01

    132 cases of malformative syringomyelia have been studied at the C.I.E.R.M. (Interdepartmental Magnetic Resonance Center) of Bicêtre Hospital. The authors describe their technique for the exploration on the cord in case of suspected intramedullary cavitation, and emphasize the morphological and evolutive aspects of these abnormalities, whether they have been operated or not. PMID:1602436

  12. Sequelae and support after termination of pregnancy for fetal malformation

    Microsoft Academic Search

    J Lloyd; K M Laurence

    1985-01-01

    A retrospective study examined the reactions to the termination of pregnancy for fetal malformation and the follow up services that were available. Women resident in Mid Glamorgan who had had a termination between 1977 and 1981 because of positive findings after midtrimester prenatal diagnostic tests for neural tube defect or chromosome abnormalities were interviewed at home using a semistructured interview

  13. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM. PMID:22304367

  14. Macrocephaly-capillary malformation syndrome: three new cases.

    PubMed

    Panigrahi, Inusha; Bhushan, Mani; Yadav, Mukesh; Khandelwal, Niranjan; Singhi, Pratibha

    2012-02-15

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. PMID:22029941

  15. 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…

  16. 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

  17. 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

  18. Proximity to Pollution Sources and Risk of Amphibian Limb Malformation

    PubMed Central

    Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.

    2005-01-01

    The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42–3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

  19. Arteriovenous malformations of the brain: natural history in unoperated patients

    Microsoft Academic Search

    P M Crawford; C R West; D W Chadwick; M D Shaw

    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

  20. A proposed angiographic classification of intracranial arteriovenous fistulae and malformations

    Microsoft Academic Search

    E. Houdart; Y. P. Gobin; A. Casasco; A. Aymard; D. Herbreteau; J. J. Merland

    1993-01-01

    We propose an angioarchitectural classification of intracranial vascular lesions as arteriovenous, arteriolovenous and arteriolovenulous fistulae. In order to validate this classification, 99 intracranial arteriovenous lesions were reviewed in 98 patients. Arteriolovenulous fistulae included 39 isolated brain arteriovenous malformations (AVMs) and 1 AVM associated with a giant arteriovenous fistula (AVF). Arteriovenous fistulae included 8 giant AVFs of the brain, 6 vein

  1. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J. [Eastbourne District General Hospital, Department of Radiology (United Kingdom)], E-mail: Hugh.Anderson@esht.nhs.uk

    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.

  2. Stereotactic radiosurgery for arteriovenous malformations of the brain

    Microsoft Academic Search

    L. Dade Lunsford; Douglas Kondziolka; John C. Flickinger; David J. Bissonette; Charles A. Jungreis; Ann H. Maitz; Joseph A. Horton; Robert J. Coffey

    1991-01-01

    Stereotactic radiosurgery successfully obliterates carefully selected arteriovenous malformations (AVM's) of the brain. In an initial 3-year experience using the 201-source cobalt-60 gamma knife at the University of Pittsburgh, 227 patients with AVM's were treated. Symptoms at presentation included prior hemorrhage in 143 patients (63%), headache in 104 (46%), and seizures in 70 (31%). Neurological deficits were present in 102 patients

  3. Brain Arteriovenous Malformations: Assessment with Dynamic MR Digital Subtraction Angiography

    Microsoft Academic Search

    Paul D. Griffiths; Nigel Hoggard; Daniel J. Warren; Iain D. Wilkinson; Bob Anderson; Charles A. Romanowski

    BACKGROUND AND PURPOSE: Conventional catheter angiography (CCA) is the current reference standard for the diagnosis, assessment, and management of pial brain arteriovenous malformations (AVMs). The purpose of this study was to develop an MR angiographic tech- nique that produces dynamic images comparable to those provided by CCA and to apply the technique to the investigation of pial brain AVMs. METHODS:

  4. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.

    PubMed

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-04-01

    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 search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy-Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case-series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations. PMID:19191827

  5. The North American Reporting Center for Amphibian Malformations

    NSDL National Science Digital Library

    Fowle, Suzanne C.

    The Northern Prairie Wildlife Research Center (NPWRC) has posted several more resources online. This article introduces readers to The North American Reporting Center for Amphibian Malformations and discusses availability and uses of the Center's databases and resources. The resource may be browsed online or downloaded as a .zip file.

  6. Absolute continuity of projected SRB measures of coupled Arnold cat map lattices

    E-print Network

    Roma "La Sapienza", Università di

    Absolute continuity of projected SRB measures of coupled Arnold cat map lattices F. Bonetto + , A to the Sinai--Ruelle--Bowen (SRB) measures for these systems [5]. A question then arose of what significance

  7. Confirmatory Factor Analysis of Arnold et al.’s Parenting Scale Across Race, Age, and Sex

    Microsoft Academic Search

    Bryan T. Karazsia; Manfred H. M. van Dulmen; Beth G. Wildman

    2008-01-01

    We used confirmatory factor analysis (CFA) to investigate the factor structure of several models of Arnold et al.’s Parenting\\u000a Scale [Arnold et al. (1993). Psychological Assessment, 5, 137–144] across children from various age groups and races. Participants were parents of children (ages 2–16 years) presenting\\u000a to four community-based pediatric practices for routine care. Parents completed questionnaires pertaining to various aspects\\u000a of parenting

  8. [Successful management of an acquired uterine arteriovenous malformation by selective ligation of the internal iliac artery].

    PubMed

    Raherinantenaina, F; Rajaonanahary, T M A; Randriamandrato, T A V; Rakoto Ratsimba, H N

    2015-05-01

    Uterine arteriovenous malformations can be congenital or acquired. When acquired, they result from abnormal arteriovenous communication between one or more uterine arteries and a myometrial and/or endometrial venous plexus, without the interposition of a vascular nidus. Arteriovenous malformations are composed of a tortuous net of fragile low-resistant arteriovenous shunts. Uterine arteriovenous malformations create a rare and potentially life-threatening condition. The method of treatment is determined by symptoms, desire for future fertility, extent, and location of the malformation. The first treatment option for uterine arteriovenous malformation is hysterectomy, and the second option is uterine artery embolization. Selective ligation of the vessels supplying the malformation is an effective treatment option when conservative methods have failed. The present report describes a patient whose uterine arteriovenous malformation was successfully managed by selective ligation of the internal iliac artery. PMID:25778842

  9. Quantum Transport in Quantum Billiards:. from Kelvin Through Arnold

    NASA Astrophysics Data System (ADS)

    Nakamura, Katsuhiro

    2003-02-01

    Dynamics of billiard balls and its role in physics have received a wide attention since the monumental lecture by Lord Kelvin at the turn of the 19-th century. Billiards can nowadays be created as quantum dots or antidots in the microscopic world, and one can envisage the quantum-mechanical manifestation of chaos of billiard balls. We show two interesting themes bridging between nonlinear dynamics and quantum transport in these mesoscopic billiards: For antidot lattices, the experimentally-observed anomalous fluctuations in the magneto-resistivity are attributed to orbit bifurcations; for 3-dimensional quantum dots, the Arnold diffusion is pointed out to have a possibility to yield the enhanced magneto-resistance beyond the weak localization correction.

  10. On the connection between the Nekhoroshev theorem and Arnold Diffusion

    E-print Network

    C. Efthymiopoulos

    2008-06-10

    The analytical techniques of the Nekhoroshev theorem are used to provide estimates on the coefficient of Arnold diffusion along a particular resonance in the Hamiltonian model of Froeschl\\'{e} et al. (2000). A resonant normal form is constructed by a computer program and the size of its remainder $||R_{opt}||$ at the optimal order of normalization is calculated as a function of the small parameter $\\epsilon$. We find that the diffusion coefficient scales as $D\\propto||R_{opt}||^3$, while the size of the optimal remainder scales as $||R_{opt}|| \\propto\\exp(1/\\epsilon^{0.21})$ in the range $10^{-4}\\leq\\epsilon \\leq 10^{-2}$. A comparison is made with the numerical results of Lega et al. (2003) in the same model.

  11. Classification of Arnold-Beltrami Flows and their Hidden Symmetries

    E-print Network

    Pietro Fre; Alexander S. Sorin

    2015-01-19

    In the context of mathematical hydrodynamics, we consider the group theory structure which underlies the ABC-flow introduced by Beltrami, Arnold and Childress. Beltrami equation is the eigenstate equation for the first order Laplace-Beltrami operator *d, which we solve by using harmonic analysis. Taking torus T^3 constructed as R^3/L, where L is a crystallographic lattice, we present a general algorithm to construct solutions of Beltrami equation which utilizes as main ingredient the orbits under the action of the point group P_L of three-vectors in the momentum lattice L*. We introduce the new notion of a Universal Classifying Group GU_L which contains all crystallographic space groups as proper subgroups. We show that the *d-eigenfunctions are naturally arranged into irreducible representations of GU_L and by means of a systematic use of the branching rules with respect to various possible subgroups H of GU_L we search and find Beltrami fields with non trivial hidden symmetries. In the case of the cubic lattice the point group P_L is the proper octahedral group O_24 and the Universal Classifying Group is finite group G_1536 of order 1536 which we study in full detail deriving all of its 37 irreducible representations and the associated character table. We show that the O_24 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 G_1536. 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 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 possibly make contact with M-theory and the geometry of flux-compactifications.

  12. Congenital umbilical arterio-venous malformation: a word of caution.

    PubMed

    Gozar, Horea; Gozar, Liliana; Badiu, Catalin Constantin; Suciu, Horatiu

    2014-05-01

    We report on an 18-month old girl who presented in good clinical shape with a pulsatile tumour in the umbilical area which had a shape and localization similar to that of an umbilical bowel hernia. The Doppler ultrasound of the umbilical tumour revealed a large arterio-venous vascular malformation with a haemodynamically significant blood shunting. Furthermore, the inferior caval vein and the hepatic veins were dilated. Computed tomography angiography revealed permeable umbilical veins and arteries communicating within a large dilated arterio-venous fistula. The growing tumour was excised without any perioperative complications. Further postoperative recovery was uneventful and the baby was discharged 10 days after surgery. We advocate careful antenatal ultrasound evaluation of these vascular malformations. Early surgical removal in newborns is vital in order to avoid severe complications. PMID:24550232

  13. Giant mesenteric lymphatic malformation presenting as small bowel volvulus

    PubMed Central

    Cauley, Christy E.; Spencer, Philip J.; Sagar, Pallavi; Goldstein, Allan M.

    2013-01-01

    Abdominal pain with bilious emesis is an ominous clinical presentation with many possible causes. We describe a previously healthy 4-year-old boy who presented with these symptoms and ultrasound findings of fluid throughout most of the abdominal cavity. Computed tomography imaging revealed a large cystic mass (21-by-13 cm) associated with a small bowel obstruction due to volvulus. A laparoscopic exploration was undertaken, revealing a large mass arising from the small intestinal mesentery and causing a segmental volvulus of the small bowel. Conversion to mini-laparotomy allowed reduction of the volvulus and segmental resection of the small bowel associated with a giant mesenteric lymphatic malformation. This case describes a rare cause of intestinal volvulus due to a mesenteric lymphatic malformation. PMID:24963906

  14. Congenital malformations of the vertebral column in ancient amphibians.

    PubMed

    Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene. PMID:23551141

  15. 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

  16. Pulmonary arteriovenous malformations. Case reports and literature review.

    PubMed

    Grahmann, P R; Bonnet, R; Swoboda, L; Nöldge, G; Hasse, J

    1994-05-01

    Pulmonary arteriovenous malformations (PAVM) represent an uncommon disease with only 500 reported cases. To emphasize the resectional surgical standard, 2 patients with PAVM and pulmonary right-to-left shunt are presented and the optional treatments discussed. One patient had suffered from a cerebrovascular accident. The other patient's diagnosis resulted from a coincidental finding in connection with an unrelated illness. Because of the risk of acutely developing complications, especially disabling or fatal cerebral ischemia, therapy is generally recommended even in asymptomatic patients. The 2 patients presented here were treated by resection. Surgical treatment with a very low risk and parenchyma-sparing technique remains the golden standard for large isolated malformations. In addition to the established and reliable operative therapy, since 1978 catheter embolization is becoming the method of choice with an increasing range of indications in those centers experienced with this technique. PMID:8172388

  17. [Port wine stains or capillary malformations: surgical treatment].

    PubMed

    Berwald, C; Salazard, B; Bardot, J; Casanova, D; Magalon, G

    2006-01-01

    Capillary malformations do not demand mostly any therapeutics. For aesthetic reasons, family or child can demand a treatment to ease even to remove the unsightly character of the lesion. In this context, the means employees must be simple and not engender aftereffects more unaesthetic than the lesion. The pulsed dye laser fulfils perfectly this conditions by improving the color of the lesion without touching the texture of the skin. However it's a treatment requiring many sessions over 2-3 years. Surgery keeps an interest for the treatment of capillary malformations resistant to laser (in particular on the limbs) or to treat soft tissues hyperplasia met in certain cervicofacial locations. The surgery uses the whole techniques of plastic surgery classified from the most simple to the most complicated: excision-suture in one time or iterative, excision and coverage by a skin graft, use of skin expansion techniques with local flaps. PMID:17005311

  18. Management of cerebral cavernous malformations: from diagnosis to treatment.

    PubMed

    Mouchtouris, Nikolaos; Chalouhi, Nohra; 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

  19. Seizure control after radiosurgery on cerebral arteriovenous malformations

    Microsoft Academic Search

    Yoshihisa Kida; Tatsuya Kobayashi; Takayuki Tanaka; Yoshimasa Mori; Tosinori Hasegawa; Toshiki Kondoh

    2000-01-01

    Among 462 cases of cerebral arteriovenous malformation (AVM) treated with gamma-radiosurgery, the initial presentations were haemorrhage in 68%, epilepsy in 12.8%, neurological deficits in 3.2%, minor symptoms in 7.6% and asymptomatic in 4.5% respectively. There were 79 cases (17.1%) who had had a convulsive seizure before radiosurgery and they were classified into two groups: 58 cases presented with seizure as

  20. Congenital cystoid adenomatoid malformation: Surgery in a young child.

    PubMed

    Hasnain Fatimi, Saulat; Asif Ali, Taimur; Majid, Zain; Deedar Ali, Ranish

    2015-07-01

    We present the case of a 3.5-year-old child who presented with recurrent chest infections and fever since birth. Antenatal ultrasonography had shown that she had a congenital cystic malformation of the left lower lobe of her lung. She was initially managed conservatively, and after a couple of years, underwent an uneventful left lower lobectomy via a posterolateral thoracotomy. She did very well after the procedure and her symptoms resolved significantly. PMID:25505008

  1. Present State of Microneurosurgery of Cerebral Arteriovenous Malformations

    Microsoft Academic Search

    Juha Hernesniemi; Rossana Romani; Martin Lehecka; Puchong Isarakul; Reza Dashti; Özgür Celik; Ondrej Navratil; Mika Niemelä; Aki Laakso

    Microneurosurgical excision is known to be the definitive treatment for brain arteriovenous malformation (AVMs). The most\\u000a important factors governing the operability of an AVM are location, size, age of the patient, and the neurosurgeon’s and team’s\\u000a experience. We present in this review the surgical experience of the senior author (JH) in microneurosurgical treatment of\\u000a brain AVMs. This consists of the

  2. Coexistence of an intracranial meningioma and an arteriovenous malformation

    PubMed Central

    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.

  3. Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities

    Microsoft Academic Search

    K. H. Nicolaides; D. R. Salvesen; R. J. M. Snijders; C. M. Gosden

    1993-01-01

    During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and\\/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48 %) with cleft lip and palate, in 5

  4. Embolotherapy of Large Pulmonary Arteriovenous Malformations: Long-Term Results

    Microsoft Academic Search

    Daniel W. Lee; Robert I. White; Thomas K. Egglin; Jeffrey S. Pollak; Pierre B. Fayad; Joel A. Wirth; Melvin M. Rosenblatt; Kevin W. Dickey; Catherine M. Burdge

    1997-01-01

    Background. The purpose of this study was to document the long-term results of transcatheter embolotherapy of large pulmonary arteriovenous malformations (PAVMs).Methods. From a data base of 221 consecutive patients with PAVMs treated by embolotherapy between 1978 and 1995, 45 patients with 52 PAVMs, supplied by feeding arteries 8 mm in diameter or larger, were selected for a retrospective investigation.Results. Of

  5. 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

  6. Pediatric stroke: the importance of cerebral arteriopathy and vascular malformations

    Microsoft Academic Search

    Lauren A. Beslow; Lori C. Jordan

    2010-01-01

    Purpose  Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 person-years. More than\\u000a half of children who have had a stroke have long-term neurological sequelae. The goal of this article is to review recent\\u000a literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations\\u000a as stroke

  7. Cerebral arteriovenous malformation: prenatal and postnatal central blood flow dynamics

    Microsoft Academic Search

    D. J. Patton; J-C Fouron

    1995-01-01

    Using the Doppler technique, this study compared the prenatal and postnatal flow patterns of an infant with cerebral arteriovenous (AV) malformation. Fetal right ventricular end-diastolic dimension was 1.7 cm with right ventricular ejection equaling 66% of the combined cardiac output. Diastolic flow was reversed in the fetal aortic isthmus but forward-moving in the descending aorta, resulting in a watershed phenomenon.

  8. Thoracoscopic anatomical resection of congenital lung malformations in adults

    PubMed Central

    Macias, Lidia; Ojanguren, Amaia; Dahdah, Julien

    2015-01-01

    Congenital lung malformations (CLM) are a heterogeneous group of disorders that may require surgical resection to prevent complications. Thoracoscopic resection of CLM has been reported in infants. Our goal was to state whether it can also be a viable option in adults. Between 2007 and 2014, 11 patients had a thoracoscopic resection of a CLM (six lobectomies and five anatomic segmentectomies) with satisfactory results. Although being more challenging in adults due to infectious sequellae, this approach is safe. PMID:25922729

  9. Congestive hepatopathy secondary to large renal arteriovenous malformation

    PubMed Central

    Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A

    2013-01-01

    A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173

  10. Congestive hepatopathy secondary to large renal arteriovenous malformation.

    PubMed

    Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A

    2013-01-01

    A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173

  11. Transcranial colour-coded duplex sonography of cerebral arteriovenous malformations

    Microsoft Academic Search

    R. W. Baumgartner; H. P. Mattle; G. Schroth

    1996-01-01

    A transcranial colour-coded duplex sonography (TCCD) study was performed to evaluate the sensitivity of detection and the\\u000a feasibility of visualising details of cerebral arteriovenous malformations (AVMs). We prospectively examined 15 patients with\\u000a 2 large (> 4 cm), 7 medium-size (2–4 cm) and 6 small (< 2 cm) radiologically proven supratentorial AVMs of the brain using\\u000a TCCD. A feeding vessel was

  12. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    PubMed Central

    Ragge, Nicola K.; Brown, Alison G.; Poloschek, Charlotte M.; Lorenz, Birgit; Henderson, R. Alex; Clarke, Michael P.; Russell-Eggitt, Isabelle; Fielder, Alistair; Gerrelli, Dianne; Martinez-Barbera, Juan Pedro; Ruddle, Piers; Hurst, Jane; Collin, J. Richard O.; Salt, Alison; Cooper, Simon T.; Thompson, Pamela J.; Sisodiya, Sanjay M.; Williamson, Kathleen A.; FitzPatrick, David R.; Heyningen, Veronica van; Hanson, Isabel M.

    2005-01-01

    Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the patients, which range from bilateral anophthalmia to retinal defects resembling Leber congenital amaurosis and pigmentary retinopathy. Magnetic resonance imaging scans revealed defects of the optic nerve, optic chiasm, and, in some cases, brain. In two families, the mutations appear to have occurred de novo in severely affected offspring, and, in two other families, the mutations have been inherited from a gonosomal mosaic parent. Data from these four families support a simple model in which OTX2 heterozygous loss-of-function mutations cause ocular malformations. Four additional families display complex inheritance patterns, suggesting that OTX2 mutations alone may not lead to consistent phenotypes. The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling. PMID:15846561

  13. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K. [Stockholm Univ. (Sweden). Inst. of Applied Environmental Research

    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.

  14. 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

  15. OBESITY AND THE RISK AND DETECTION OF FETAL MALFORMATIONS

    PubMed Central

    RACUSIN, Diana; STEVENS, Blair; CAMPBELL, Genevieve; AAGAARD-TILLERY, Kjersti

    2012-01-01

    The incidence of obesity in pregnancy has increased over the past two decades, with nearly 50% of U.S. women aged 15–49 are classified as overweight or obese. Obesity (independent of diabetes) among gravidae poses unique risks which extend towards the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including neural tube defects, cardiac anomalies, and orofacial clefts as well as stillbirth and macrosomia. Unfortunately, several lines of evidence also suggest that the quality of the prenatal fetal anatomic survey and certain aspects of prenatal diagnostic screening programs are significantly limited. The net effect is that among obese gravidae, the increased risk of fetal anomalies is further offset by a concomitant diminished ability to sonographically detect such malformation in the prenatal interval. The purpose of this summary review is to systematically examine the evidence suggesting an increased risk of fetal malformations in obese gravidae, the contributing role of diabetes, and the limitations of prenatal diagnostic and sonographic screening among this at-risk population. PMID:22713503

  16. 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.

  17. Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation.

    PubMed

    Golden, Michael; Saeidi, Saba; Liem, Benny; Marchand, Eric; Morrison, Leslie; Hart, Blaine

    2015-02-01

    Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two-hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease. PMID:25565562

  18. Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

    PubMed Central

    Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

    2014-01-01

    Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country. PMID:25006483

  19. 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.

  20. Synchronization mechanism and Arnold tongues for dust density waves

    NASA Astrophysics Data System (ADS)

    Ruhunusiri, W. D. Suranga; Goree, J.

    2012-04-01

    The nonlinear phenomenon of synchronization is characterized experimentally for dust density waves, i.e., dust acoustic waves, which are self-excited due to an ion streaming instability. The waves propagate in a dust cloud with a natural frequency of 22 Hz. We synchronize these waves to a different frequency using a driving electrode that sinusoidally modulates the ion density. We study four synchronized states, with frequencies that are multiples of 1, 2, 3, and 1/2 of the driving frequency. Comparing to phenomena that are typical of the van der Pol paradigm, we find that synchronization of our waves exhibit the signature of the suppression mechanism but not that of the phaselocking mechanism. Additionally, synchronization of our waves exhibits three characteristics that differ from the van der Pol paradigm: a threshold amplitude that can be seen in the Arnold tongue diagram, a branching of the 1:1 harmonic tongue at its lower extremity, and a nonharmonic state. The latter state appears to be a nonlinear oscillation; it is neither at the natural frequency nor a synchronized state.

  1. Classification of Arnold-Beltrami Flows and their Hidden Symmetries

    E-print Network

    Fre, Pietro

    2015-01-01

    In the context of mathematical hydrodynamics, we consider the group theory structure which underlies the ABC-flow introduced by Beltrami, Arnold and Childress. Beltrami equation is the eigenstate equation for the first order Laplace-Beltrami operator *d, which we solve by using harmonic analysis. Taking torus T^3 constructed as R^3/L, where L is a crystallographic lattice, we present a general algorithm to construct solutions of Beltrami equation which utilizes as main ingredient the orbits under the action of the point group P_L of three-vectors in the momentum lattice L*. We introduce the new notion of a Universal Classifying Group GU_L which contains all crystallographic space groups as proper subgroups. We show that the *d-eigenfunctions are naturally arranged into irreducible representations of GU_L and by means of a systematic use of the branching rules with respect to various possible subgroups H of GU_L we search and find Beltrami fields with non trivial hidden symmetries. In the case of the cubic lat...

  2. 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.

  3. 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

  4. 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

  5. Onyx embolization for the treatment of brain arteriovenous malformations

    Microsoft Academic Search

    Feng Xu; Wei Ni; Yujun Liao; Yuxiang Gu; Bin Xu; Bing Leng; Donglei Song

    2011-01-01

    Background  Onyx has emerged in recent years for the endovascular treatment of brain arteriovenous malformations (AVMs). However, the\\u000a role of Onyx embolization is still under discussion. We report our initial experiences in the treatment of brain AVMs with\\u000a Onyx embolization.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Between January 2004 and December 2007, 86 patients with brain AVMs were embolized with Onyx. Clinical presentation included\\u000a intracerebral hemorrhage in

  6. Cesarean scar pregnancy: a rare cause of uterine arteriovenous malformation.

    PubMed

    Akbayir, Ozgur; Gedikbasi, Ali; Akyol, Alpaslan; Ucar, Adem; Saygi-Ozyurt, Sezin; Gulkilik, Ahmet

    2011-01-01

    A 38-year-old gravida 4, para 2 woman with a history of two Cesarean sections and one curettage was referred to our hospital, because of painless vaginal bleeding and 6 weeks + 2 days of amenorrhea. The first diagnosis was Cesarean scar pregnancy, managed with methotrexate. Subsequently, an arteriovenous malformation developed, which was diagnosed with color Doppler imaging. The diagnosis was confirmed with angiography. Successful bilateral uterine artery embolization was performed with ethylene vinyl alcohol copolymer (Onyx), n-butyl-2-cyanoacrylate (Histoacryl), and gelfoam. PMID:21647920

  7. Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort.

    PubMed

    Anthony, S; Kateman, H; Brand, R; den Ouden, A L; Dorrepaal, C A; van der Pal-de Bruin, K M; Buitendijk, S E

    2005-03-01

    Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of congenital malformations, the prevalence in different organ systems and of several specific malformations between different maternal ethnic groups in the Netherlands using a 5-year national birth cohort (1996-2000) containing 881 800 births. Maternal ethnic groups considered were Dutch; Mediterranean (Moroccan/Turkish); other European; Black; Hindu and Asian. Mediterranean women had a 20% higher risk of having a child with a congenital malformation than Dutch women (age-adjusted OR = 1.21 [95% CI 1.16, 1.27]). They showed an increased risk of malformations in several organ systems such as the central nervous system and sensory organs, the urogenital system and skin and abdominal wall. Further, they had an increased risk of the group of chromosomal malformations/multiple malformations/syndromes. For the specific group of multiple malformations the maternal age adjusted OR was 1.80 [95% CI 1.47, 2.20]. The Black group showed a significantly increased risk of skeletal and muscular malformations (age adjusted OR = 1.76 [95% CI 1.53, 2.02]) with a sixfold increased risk of polydactyly compared with the Dutch group. For Mediterranean women, the largest and fastest growing group of immigrants in the Netherlands, this study demonstrated an increased risk of congenital malformations. PMID:15787888

  8. Use of bivalirudin to prevent thrombosis following orthotopic liver transplantation in a patient with Budd-Chiari syndrome and a history of heparin-induced thrombocytopenia.

    PubMed

    Anderegg, Brent A; Baillie, G Mark; Uber, Walter E; Chavin, Kenneth D; Lin, Angello; Baliga, Prabhakar K; Lazarchick, John

    2008-01-01

    Type II heparin-induced thrombocytopenia (HIT) is an immune-mediated syndrome that may arise in a time-dependent manner following heparin therapy, placing patients at significant risk for thromboembolic events. Therapy includes anticoagulation with a direct thrombin inhibitor and avoidance of heparin. We report a patient with Budd-Chiari syndrome and a history of heparin-induced thrombocytopenia who presented for orthotopic liver transplant and required postoperative anticoagulation with bivalirudin. During the post-transplant graft function improvement, we observed a significant dose-effect alteration manifested by an increased bivalirudin dose requirement as factor V activity increased. This observation is an important consideration in the attempt to maintain an optimal balance between effective anticoagulation and a reduced risk of postoperative bleeding. PMID:18715858

  9. Unusual association between Budd-Chiari syndrome secondary to antiphospholipid syndrome and relapsing polychondritis: a case report and review of the literature.

    PubMed

    Sebastiani, M; Manzini, C U; Campomori, F; Spinella, A; Vacchi, C; Giuggioli, D; Giuggoli, D; Schepis, F; Ferri, C

    2013-06-01

    Relapsing polychondritis is a rare immune-mediated condition, characterized by episodic inflammation of the cartilaginous tissue, in particular the ears, nose, and eyes, and involvement of joints and respiratory tract. Nearly one third of patients showed other associated diseases, such as systemic vasculitides, connective tissue diseases, or myelodysplastic syndromes. Antiphospholipid antibodies can be found in relapsing polychondritis in patients with no clinical thrombotic disease. However, when antiphospholipid syndrome is present, its clinical manifestations can be severe and life threatening. We describe the case of a patient with relapsing polychondritis associated to Budd-Chiari syndrome due to antiphospholipid syndrome. The present clinical observations together with the updated review of the literature suggest a search for antiphospholipid antibodies in all patients with relapsing polychondritis. PMID:23512377

  10. Joseph Toynbee and his son Arnold: unpublished manuscript written by Adam Politzer.

    PubMed

    Mudry, Albert; Kutter, Jurg

    2004-03-01

    In 1914, Adam Politzer (1835-1920) was invited to the Viennese Toynbee Hall to give a lecture. To prepare for his lecture, Politzer wrote a manuscript of 22 pages, seven of them are particularly interesting concerning biographical information on Joseph and Arnold Toynbee. These seven pages are presented in translation from German to English. Politzer particularly emphasizes the social qualities of these two men. This manuscript is representative of his high regard for Joseph and Arnold Toynbee. It completes the few existing biographies of Joseph Toynbee. PMID:15068512

  11. Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain

    PubMed Central

    Aldinger, Kimberly A.; Elsen, Gina E.; Prince, Victoria E.; Millen, Kathleen J.

    2009-01-01

    Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes1. Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations2. Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding disrupted developmental processes and candidate genes. Here we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework. PMID:19778712

  12. Mapping a Gene Causing Cerebral Cavernous Malformation to 7q11.2-q21

    Microsoft Academic Search

    Murat Gunel; Issam A. Awad; John Anson; Richard P. Lifton

    1995-01-01

    Cerebral cavernous malformation is a common disease of the brain vasculature of unknown cause characterized by dilated thin-walled sinusoidal vessels (caverns); these lesions cause varying clinical presentations which include headache, seizure, and hemorrhagic stroke. This disorder is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kindreds, we have identified linkage of this

  13. Combined spatial-temporal analysis of malformation rates in Bavaria after the Chernobyl accident

    Microsoft Academic Search

    Helmut Küchenhoff; Astrid Engelhardt; Alfred Körblein

    Malformation rates in the German state of Bavaria, as a whole, did not increase in 1987, the year following the Chernobyl accident. Also an analysis of the monthly data does not show any association between radiation exposure and malformation rates seven month later. But in a detailed analysis on the level of districts taking the spatial structure into account we

  14. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Microsoft Academic Search

    H. A. Desal; S. K. Lee; B. S. Kim; S. Raoul; M. Tymianski; K. G. TerBrugge

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We

  15. Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus

    Microsoft Academic Search

    S Obrador; M Soto; J Silvela

    1975-01-01

    Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe

  16. Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension

    Microsoft Academic Search

    Charlene E. U. Oduber; Victor E. A. Gerdes; Chantal M. A. M. van der Horst; Paul Bresser

    2009-01-01

    We report four patients with chronic thromboembolic pulmonary hypertension (CTEPH) presumably due to recurrent pulmonary embolism from low-flow vascular malformations, and give a review of the literature. Venous malformations, such as those observed in Klippel- Trenaunay syndrome (KTS) can be associated with hypercoagulability, thrombosis and recurrent pulmonary embolism and ultimately CTEPH. Since many physicians appear unfamiliar with these potential complications,

  17. Transcatheter Embolization of Extremity Vascular Malformations: The Long-term Success of Multiple Interventions

    Microsoft Academic Search

    Caron B. Rockman; Robert J. Rosen; Glenn R. Jacobowitz; Jonathan Weiswasser; Dirk J. Hofstee; B. Fioole; Patrick J. Lamparello; Mark A. Adelman; Paul J. Gagne; Thomas S. Riles

    2003-01-01

    Vascular malformations of the extremities present a difficult therapeutic challenge. Ligation of feeding vessels may lead to tissue necrosis and limb loss and can make subsequent attempts at transcatheter therapy impossible. The purpose of this study was to review our results with transcatheter embolization therapy in symptomatic vascular malformations in the upper and lower extremities in 50 patients. A retrospective

  18. The cyclops and the mermaid: an epidemiological study of two types of rare malformation

    Microsoft Academic Search

    B Källén; E E Castilla; P A Lancaster; O Mutchinick; L B Knudsen; M L Martínez-Frías; P Mastroiacovo; E Robert

    1992-01-01

    Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely

  19. Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

    SciTech Connect

    Ramer, J.C.; Ladda, R.L. [Pennsylvania State Univ. Hospital, Hershey, PA (United States); Lin, A.E. [Francisco Children`s Hospital, Boston, MA (United States)] [and others

    1995-07-03

    We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. 14 refs., 6 figs., 1 tab.

  20. ADDING INFECTION TO INJURY: SYNERGISTIC EFFECTS OF PREDATION AND PARASITISM ON AMPHIBIAN MALFORMATIONS

    Microsoft Academic Search

    Pieter T. J. Johnson; Eric R. Preu; Daniel R. Sutherland; John M. Romansic; Barbara Han; Andrew R. Blaustein

    2006-01-01

    We explored the importance of interactions between parasite infection and predation in driving an emerging phenomenon of conservation importance: amphibian limb malformations. We suggest that injury resulting from intraspecific predation in combination with trematode infection contributes to the frequency and severity of malformations in salamanders. By integrating field surveys and experiments, we evaluated the individual and combined effects of conspecific

  1. Diagnosis and Management of a Vein of Galen Malformation in a Neonate

    Microsoft Academic Search

    Stacy L. French

    2010-01-01

    Vein of Galen arterial malformation (VGAM) is an arteriovenous malformation between cerebral vessels of the circle of Willis and the vein of Galen. VGAM is a direct communication between an artery and a vein resulting in increased cardiac output due to arterial blood flowing directly into a vein and returning directly to the heart, without traversing the full vascular system.

  2. Patterns of anomalies in children with malformed ears.

    PubMed

    Rapin, I; Ruben, R J

    1976-10-01

    Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals. PMID:966914

  3. 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

  4. 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

  5. Evaluation of the association of zoonotic Ljungan virus with perinatal deaths and fetal malformation.

    PubMed

    Zheng, Lili; Wang, Fang; Huang, Jing; Xin, Hong

    2015-03-01

    More and more epidemiologic and experimental data support the notion that Ljungan virus (LV), originally isolated from some rodent populations in Sweden, Denmark, and the United States, plays an important role in stillbirth and fetal malformation. Mouse dams infected with LV may result in uterine resorption and perinatal deaths that may cross generations, and their offspring may suffer high rates of malformations including cranial, brain, and limb malformations. In humans, researches founded that LV infection is related to malformation, intrauterine fetal death, and even central nervous system malformation. Although molecularly characterized, little is known about the biophysical nature of LV. Consequently, the role of LV infections in sudden infant death syndrome is still confusing, and the mechanism of how LV infections cause diseases is not clear. More research is clearly necessary to explore the mechanisms of LV infection in human and animal diseases to bring improvement to the clinical outcomes. PMID:25789980

  6. Evolution, Game Theory, & the Social Contract Arnold and Mabel Beckman Center

    E-print Network

    Barrett, Jeffrey A.

    1 Evolution, Game Theory, & the Social Contract Conference Arnold and Mabel Beckman Center 100 of trickery. We see the former category in the evolution of mate-choice signals; we see the latter in the evolution of immune strategies to deal with pathogens. I will discuss the problem of deception in biological

  7. Arnold di usion: an overview through Dynamical Astronomy Pablo M. Cincotta y

    E-print Network

    Barcelona, Universitat de

    systems which are of major relevance in Dynamical Astronomy. Arnold di#11;usion is reviewed in a stan;usion could play any role in the dynamical evolution of, for instance elliptical galaxies, is also included. keywords: chaos{di#11;usion{instabilities{galaxies: dynamics I. INTRODUCTION The motion

  8. FINITE ELEMENTS FOR SYMMETRIC TENSORS IN THREE DOUGLAS N. ARNOLD, GERARD AWANOU, AND RAGNAR WINTHER

    E-print Network

    Awanou, Gerard

    PREPRINT FINITE ELEMENTS FOR SYMMETRIC TENSORS IN THREE DIMENSIONS DOUGLAS N. ARNOLD, GERARD AWANOU, AND RAGNAR WINTHER Abstract. We construct finite element subspaces of the space of symme- tric tensors- dard discontinuous finite element spaces are used to approximate the displace- ment field. These finite

  9. Clippee: A Large-Scale Client/Peer System Keno Albrecht, Ruedi Arnold, Roger Wattenhofer

    E-print Network

    of this client/peer architecture. Clippee employs a data replication scheme based on an optimistic use of locks1 Clippee: A Large-Scale Client/Peer System Keno Albrecht, Ruedi Arnold, Roger Wattenhofer {kenoa a client/peer architec- ture providing services similar to Group Communication systems

  10. 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…

  11. 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…

  12. Beam Combination and Control Session -Arnold RAPID BEAM SHAPING AND FOCUSSING USING TUNABLE ACOUSTIC GRADIENT INDEX

    E-print Network

    Arnold, Craig B.

    present a new device, the tunable acoustic gradient index (TAG) lens, which provides a scalable, rapid ACOUSTIC GRADIENT INDEX LENSES Thomas Lipp, Alexandre Mermillod-Blondin, Euan McLeod and Craig B. Arnold, we show that a cylindrical geometry allows this lens to generate a single multiscale Bessel beam [1

  13. Science, Idealism, and Higher Education in England: Arnold, Green and Haldane.

    ERIC Educational Resources Information Center

    Price, Geoffrey

    1986-01-01

    The rise of Hegelian philosophy concerning the role of education and the sciences as the keys to human enlightenment and cultural improvement, and the work of Matthew Arnold, T.H. Green, and Richard Burdon Haldane relating to English reform of higher education are discussed. (MSE)

  14. STATEOF CALIFORNIA-THE RESOV.RCESAGENCY Arnold Schwanenegger. Governor CALIFORNIA ENERGY COMMISSION

    E-print Network

    Commission's ("CEC") Petition for Exemption from Federal Preemption of California's Water ConservationSTATEOF CALIFORNIA-THE RESOV.RCESAGENCY Arnold Schwanenegger. Governor CALIFORNIA ENERGY COMMISSION 1516Ninth Sweet Sacramento, California 95814 WEBSITES Main website:w.energy.ca.gov Children

  15. Aerodynamic Stability and the Growth of Triangular Snow Crystals K. G. Libbrecht and H. M. Arnold

    E-print Network

    Libbrecht, Kenneth G.

    Aerodynamic Stability and the Growth of Triangular Snow Crystals K. G. Libbrecht and H. M. Arnold growth perturbations of the more-typical hexagonal forms. We then describe an aerodynamic model leads to air flow around the crystal that promotes the growth of alternating facets. Aerodynamic effects

  16. First Eurographics Workshop on Graphics and Cultural Heritage (2003) A. Chalmers, D. Arnold, F. Niccolucci (Editors)

    E-print Network

    Paris-Sud XI, Université de

    2003-01-01

    First Eurographics Workshop on Graphics and Cultural Heritage (2003) A. Chalmers, D. Arnold, F. Niccolucci (Editors) Photorealism and Non-Photorealism in Virtual Heritage Representation Maria Roussou1-Antipolis, France Abstract The area of virtual heritage has long been concentrated on generating digital

  17. Somatic embryos from callus of Salix viminalis L. L. Grnroos, S. von Arnold T. Ericsson

    E-print Network

    Paris-Sud XI, Université de

    Somatic embryos from callus of Salix viminalis L. L. Grönroos, S. von Arnold T. Ericsson Department is in preparation and will be pub- lished elsewhere. Somatic embryogenesis in pistil callus of basket willow (Salix of embryogenic cal- lus obtained from Salix in the future, the embryogenic callus and the other callus types

  18. Convex Hull Asymptotic Shape Evolution Maxim Arnold, Yuliy Baryshnikov and Steven M. LaValle

    E-print Network

    LaValle, Steven M.

    Convex Hull Asymptotic Shape Evolution Maxim Arnold, Yuliy Baryshnikov and Steven M. La of a "large" disc, shown with its convex hull. Fig. 2. The Voronoi diagram of RRT vertices contains interior to the boundary of the space. #12;Convex Hull Asymptotic Shape Evolution 3 What happens when the size

  19. Object-based Collective Communication in Java Arnold Nelisse, Thilo Kielmann, Henri E. Bal, Jason Maassen

    E-print Network

    Kielmann, Thilo

    adds the core of MPI's collective operations to Java's object model. CCJ maintains thread groupsObject-based Collective Communication in Java Arnold Nelisse, Thilo Kielmann, Henri E. Bal, Jason library that adds MPI-like collective op- erations to Java. Rather than trying to adhere to the precise

  20. Object-based Collective Communication in Java Arnold Nelisse, Thilo Kielmann, Henri E. Bal, Jason Maassen

    E-print Network

    Kielmann, Thilo

    ) which adds the core of MPI's collective operations to Java's object model. CCJ maintains thread groupsObject-based Collective Communication in Java Arnold Nelisse, Thilo Kielmann, Henri E. Bal, Jason,kielmann,bal,jason¡ @cs.vu.nl An extended version will appear in Joint Java Grande - ISCOPE 2001 Conference, San Francisco

  1. Quantitative Penetration Testing with Item Response Theory Florian Arnold*, Wolter Pieterst and Marielle Stoelinga*

    E-print Network

    Vellekoop, Michel

    Quantitative Penetration Testing with Item Response Theory Florian Arnold*, Wolter Pieterst, Enschede, The Netherlands Email: farnold@utwente.nl.m.i.a.stoelinga@utwente.nl tServices, Cyber Security method. To enable quantitative approaches to security risk management, including decision support based

  2. ENDOWED CHAIR POSITION University of South Carolina, Arnold School of Public Health,

    E-print Network

    Almor, Amit

    ENDOWED CHAIR POSITION University of South Carolina, Arnold School of Public Health, Department of Exercise Science The University of South Carolina (USC) seeks to hire an endowed chair of TechnologyEE). The other endowed chair position has been established at the Medical University of South Carolina. The Co

  3. A (1+1)-CMA-ES for Constrained Optimisation Dirk V. Arnold

    E-print Network

    Paris-Sud XI, Université de

    A (1+1)-CMA-ES for Constrained Optimisation Dirk V. Arnold Faculty of Computer Science Dalhousie for covariance matrix adaptation evolution strategies (CMA- ES). The key idea is to approximate the directions to search in directions tangential to the bound- aries. The approach is implemented in the (1 + 1)-CMA

  4. Active Covariance Matrix Adaptation for the (1+1)-CMA-ES Dirk V. Arnold

    E-print Network

    Paris-Sud XI, Université de

    Active Covariance Matrix Adaptation for the (1+1)-CMA-ES Dirk V. Arnold Faculty of Computer Science, France Nikolaus.Hansen@lri.fr ABSTRACT We propose a novel variant of the (1 + 1)-CMA-ES that updates- tion strategy (CMA-ES) developed by Hansen and Oster- meier [6] learns an appropriate covariance matrix

  5. Opening Remarks by George W. Arnold, National Coordinator for Smart Grid Interoperability

    E-print Network

    Magee, Joseph W.

    Opening Remarks by George W. Arnold, National Coordinator for Smart Grid Interoperability Conference on Smart Grid Interoperability Standards January 31, 2011 Introduction Chairman Wellinghoff the opportunity to escribe NIST's and our partners efforts to develop standards for an interoperable d smart grid

  6. EL Program: Smart Grid Program Manager: George Arnold, Designated Goal Liaison; David Wollman,

    E-print Network

    Magee, Joseph W.

    EL Program: Smart Grid Program Manager: George Arnold, Designated Goal Liaison; David Wollman, Smart Grid and Cyber-Physical Systems Program Office, Engineering Laboratory Office, x2433; Dean and power flows, and additional advancements to create a smart grid. In response to a mandate given

  7. Cyclic evasion in the three bug problem Maxim Arnold and Vadim Zharnitsky

    E-print Network

    Zharnitsky, Vadim

    Cyclic evasion in the three bug problem Maxim Arnold and Vadim Zharnitsky April 10, 2014 Abstract. In this note we present a simple proof that 3 bugs involved in cyclic evasion, converge to an equilateral for the triangle. The problem of the cyclic pursuit or n-bug problem is a classical one, see e.g. an article

  8. 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…

  9. Laser Direct-Write Of Alkaline Microbatteries Craig B. Arnold and Alberto Pique

    E-print Network

    Arnold, Craig B.

    Laser Direct-Write Of Alkaline Microbatteries Craig B. Arnold and Alberto Piqu´e Materials Science engineering approach to fabricate and optimize various types of alkaline microbatteries. Microbattery cells the production of planar zinc-silver oxide alkaline cell by laser direct-write under ambient conditions

  10. Color Invariant Snakes Theo Gevers, Sennay Ghebreab and Arnold W.M. Smeulders

    E-print Network

    Gevers, Theo

    Color Invariant Snakes Theo Gevers, Sennay Ghebreab and Arnold W.M. Smeulders ISIS, University@wins.uva.nl Abstract Snakes provide high­level information in the form of continuity constraints and minimum energy obtained by snakes may be negatively affected by the imaging­process (e.g. shadows, shading and highlights

  11. A Moffatt-Arnold formula for the mutual helicity of linked flux tubes

    NASA Astrophysics Data System (ADS)

    Laurence, Peter; Avellaneda, Marco

    We show that Moffat's formula for the helicity of linked flux tubes is valid for arbitrary field line structure provided that helicity is replaced by mutual helicity, i.e. if self-helicities are excluded. We use Arnold's recent notion of asymptotic linking number to derive our result.

  12. STATE OF CALIFORNIA THE RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION

    E-print Network

    (NORMWD) for back-up to the Chevron fresh water supply. Usage would be limited to 30 days per yearSTATE OF CALIFORNIA THE RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY to the nearby Chevron oilfields. Chevron supplies process water to the SCC. The facility is located

  13. Onyx® in the management of cranial arteriovenous malformations.

    PubMed

    Jalaly, Jalal; Dalfino, John; Mousa, Shaker A

    2013-07-01

    The ethylene vinyl alcohol copolymer, Onyx® (ev3, Inc., MN, USA), is an embolic agent used in the management of arteriovenous malformations (AVMs) and was approved by the US FDA in 2005. Use of Onyx has resulted in higher curative rates compared with previous embolic agents such as N-butyl-2-cyanoacrylate. Onyx has several advantages over previous embolic agents. For instance, Onyx is a copolymer and does not adhere to catheters but solidifies slowly owing to the diffusion of its solvent dimethyl sulfoxide. This review focuses on different results obtained from the experience of different neurointerventionalists with an emphasis on the aim to cure. The studies presented are compared in terms of curative rates, morbidity and mortality. Ideas are presented for future treatment options for AVM rupture using nanotargeted therapy with the guide of specific markers highly expressed on the surface of cells or tissues of interest. Such nanotargeted therapy might transform AVM treatment with new embolic agents. PMID:23895072

  14. A case of scrotal venous malformation mimicking a failed varicocelectomy.

    PubMed

    Yi, Chong K; Derosa, Raffaella; Sterbis, Joseph R; Ching, Brian H

    2014-01-01

    A 21-year-old man presented to interventional radiology department with several years of left scrotal pain, which exacerbated by prolonged standing and walking. The patient had undergone a left varicocelectomy at the age of 10, after which he had a persistent scrotal mass. As he grew older, the left scrotal mass continued to increase in size, and symptoms progressively worsened. Physical examination revealed a non-tender, firm left scrotal mass which remained unchanged in size after Valsalva manoeuvres. Initial ultrasound examination revealed an extratesticular, intrascrotal mass with minimal internal flow. MRI revealed a heterogeneously enhancing, low-flow venous malformation centred in the midscrotum involving multiple tissue planes. Two sessions of percutaneous sclerotherapy failed to relieve his pain. Three months after the second sclerotherapy, the patient underwent surgical resection. At the time of his postoperative visit, his left scrotal pain had significantly improved and pain with prolonged standing and walking had resolved completely. PMID:24654244

  15. Quantification of intracerebral steal in patients with arteriovenous malformation

    SciTech Connect

    Homan, R.W.; Devous, M.D. Sr.; Stokely, E.M.; Bonte, F.J.

    1986-08-01

    Eleven patients with angiographically and/or pathologically proved arteriovenous malformations (AVMs) were studied using dynamic, single-photon-emission computed tomography (DSPECT). Quantification of regional cerebral blood flow in structurally normal areas remote from the AVM disclosed areas of decreased flow compared with normal controls in eight of 11 patients examined. Areas of hypoperfusion correlated with altered function as manifested by epileptogenic foci and impaired cognitive function. Dynamic, single-photon-emission computed tomography provides a noninvasive technique to monitor quantitatively hemodynamic changes associated with AVMs. Our findings suggest that such changes are present in the majority of patients with AVMs and that they may be clinically significant. The potential application of regional cerebral blood flow imaging by DSPECT in the management of patients with AVMs is discussed.

  16. [Thrombosed scapular intramuscular venous malformation: A pediatric case report].

    PubMed

    Fekir, A; Balguerie, X; Bardoux, I; Dacher, J-N; Vivier, P-H

    2015-07-01

    Venous malformation (VM) is a frequent soft tissue mass in children that should not be confused with vascular tumors. We report the case of a 10-year-old boy with a bulky thrombosed VM of the shoulder with functional disability. D-dimer levels were high. Pathognomonic phleboliths were demonstrated on conventional x-rays. Echo-doppler confirmed the venous nature of the lesion and areas without flow suspicious for thrombosis. MRI provides the deep extension and can show non-calcified thrombi that are difficult to see with ultrasound. Localized intravascular coagulopathy is often associated with thrombosis phenomena and has to be confirmed by measurement of D-dimer levels in order to initiate anticoagulation quickly with low-molecular-weight heparin. Follow-up includes measurement of D-dimer levels and potentially MRI to evaluate the anticoagulation efficacy and tailor treatment duration. PMID:26047748

  17. Developmental outcomes of Down syndrome and Dandy-Walker malformation

    PubMed Central

    Love, Kaitlin; Huddleston, Lillie; Olney, Pat; Wrubel, David; Visootsak, Jeannie

    2012-01-01

    Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy. PMID:22866020

  18. Embolization of Arteriovenous Malformation with Diluted Mixture of NBCA

    PubMed Central

    Tamatani, S.; Koike, T.; Ito, Y.; Tanaka, R.

    2000-01-01

    Summary The technique of nidus embolization with N-butyl-2-cyanoacrylate (NBCA) glue is presented. The microcatheter is navigated into the nidus and the tip is set in a wedged position. A diluted mixture of NBCA in ethiodized oil (a 25 % mixture is mainly used) is injected very slowly, using complete column technique. Using this technique, the progression of glues in the nidus can be seen easily, which leads to improve accuracy and effectiveness of embolization. The mean blood pressure is maintained 15% to 20% below baseline for several days after the embolization to prevent hemorrhage caused by normal pressure breakthrough. We believe this technique is very useful and effective method for the treatment of arteriovenous malformations. However; considerable experience in this technique should be required. PMID:20667245

  19. Antibiotics potentially used in response to bioterrorism and the risk of major congenital malformations.

    PubMed

    Cooper, William O; Hernandez-Diaz, Sonia; Arbogast, Patrick G; Dudley, Judith A; Dyer, Shannon M; Gideon, Patricia S; Hall, Kathleen S; Kaltenbach, Lisa A; Ray, Wayne A

    2009-01-01

    This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30 049 infants from Tennessee Medicaid born between 1985 and 2000 identified from computerised state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline and amoxicillin (antibiotics recommended for potential bioterrorism attacks) (n = 24 521) and erythromycin (included as a positive control) (n = 2128) were compared with infants with no fetal exposure to any antibiotics (n = 3400). Major congenital malformations identified from computerised records were confirmed through medical record review. Overall, 869 (2.9%) of infants in the cohort had a confirmed major congenital malformation, with major malformations ranging from 2.5% to 3.0% among the antibiotic-specific exposure groups. No increased risk was present in multivariable analyses for any malformations and for malformations of specific organ systems. In conclusion, these data suggest that ciprofloxacin, azithromycin, doxycycline or amoxicillin use by pregnant women should not result in a greater incidence of overall major congenital malformations in infants whose mothers take these medications, though a large increase in risk cannot be ruled out. PMID:19228311

  20. ANTIBIOTICS POTENTIALLY USED IN RESPONSE TO BIOTERRORISM AND THE RISK OF MAJOR CONGENITAL MALFORMATIONS

    PubMed Central

    Cooper, William O.; Hernandez-Diaz, Sonia; Arbogast, Patrick G.; Dudley, Judith A.; Dyer, Shannon M.; Gideon, Patricia S.; Hall, Kathleen S.; Kaltenbach, Lisa A.; Ray, Wayne A.

    2012-01-01

    SUMMARY This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30,049 infants from Tennessee Medicaid born between 1985–2000 identified from computerized state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline, and amoxicillin (antibiotics recommended for potential bioterrorism attacks) and erythromycin (included as a positive control) were compared to infants with no fetal exposure to any antibiotics. Major congenital malformations identified from computerized records were confirmed through medical record review. Overall, 869 (2.9%) of infants in the cohort had a confirmed major congenital malformation, with major malformations ranging from 2.5%–3.0% among the antibiotic-specific exposure groups. No increased risk was present in multivariable analyses for any malformations and for malformations of specific organ systems. In conclusion, these data suggest that ciprofloxacin, azithromycin, doxycycline, or amoxicillin use by pregnant women should not result in a greater incidence of overall major congenital malformations in infants whose mothers take these medications, though a large increase in risk cannot be ruled out. PMID:19228311

  1. Management of cerebral cavernous malformations in the pediatric population: a literature review and case illustrations.

    PubMed

    Kosnik-Infinger, L; Carroll, C; Greiner, H; Leach, J; Mangano, F T

    2015-09-01

    Cavernous malformations (CM) are vascular malformations of the central nervous system that may occur in the brain and spinal cord. They are one of the four major types of vascular malformations that also includes developmental venous anomalies (DVA)s, arteriovenous malformations (AVMs), and capillary telangiectasias. CMs are a common vascular malformation, and 25% of them occur in the pediatric age group. They can present with acute or chronic symptoms including headache, neurologic deficits secondary to hemorrhage, mass effect, or epilepsy. This review will focus on the neurosurgical management of intracranial cavernous malformations in children. Pediatric CMs have special considerations different from CM that occur in the adult population which are highlighted throughout this review. Characteristics specific to pediatric CM epidemiology, genetics, presentation, pathology, location, size, epilepsy, and management will be discussed. Specific considerations must be entertained with the diagnosis of pediatric CM in that management needs to include consideration of the lifetime risk of hemorrhage, as well as the possibility of development of epilepsy. If in an accessible location, most cavernomas should be surgically removed in a timely fashion to provide lifelong cure for pediatric patients. The review closes with the discussion of two interesting cavernous malformation cases occurring in a 12-year old male and a 12-year old female that exhibit many of the important aspects specific to the management of a pediatric patient with CM, highlighting the importance of a multidisciplinary approach to treatment. PMID:25998208

  2. NPHP4 Variants are Associated with Pleiotropic Heart Malformations

    PubMed Central

    French, Vanessa M.; van de Laar, Ingrid M.B.H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M.E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

    2014-01-01

    Rationale Congenital heart malformations are a major cause of morbidity and mortality especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective To identify genetic mutations causing cardiac laterality defects. Methods and Results We performed a genome-wide linkage analysis in patients with cardiac laterality defects from a consanguineous family. The patients had combinations of defects that included dextrocardia, transposition of great arteries, double outlet right ventricle, atrio-ventricular septal defects and caval vein abnormalities. Sequencing of positional candidate genes identified mutations in NPHP4. We performed mutation analysis of NPHP4 in 146 unrelated patients with similar cardiac laterality defects. Forty-one percent of these patients also had laterality defects of the abdominal organs. We identified eight additional missense variants that were absent or very rare in controls. To study the role of nphp4 in establishing L-R asymmetry, we used antisense morpholinos to knockdown nphp4 expression in zebrafish. Depletion of nphp4 disrupted L-R patterning as well as cardiac and gut laterality. Cardiac laterality defects were partially rescued by human NPHP4 mRNA, whereas mutant NPHP4 containing genetic variants found in patients failed to rescue. We show that nphp4 is involved in the formation of motile cilia in Kupffer’s vesicle (KV), which generate asymmetric fluid flow necessary for normal L-R asymmetry. Conclusions NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. In zebrafish, nphp4 is essential for the development and function of KV cilia and is required for global L-R patterning. PMID:22550138

  3. Stereotactic proton beam therapy for intracranial arteriovenous malformations

    SciTech Connect

    Vernimmen, Frederik J.A.I. [Department of Radiation Oncology, Tygerberg Hospital, Tygerberg (South Africa)]. E-mail: fv@sun.ac.za; Slabbert, Jacobus P. [Department of Radiation Biophysics, iThemba LABS, Somerset West (South Africa); Wilson, Jennifer A. [Department of Radiation Oncology, Little Company of Mary Hospital, Pretoria (South Africa); Fredericks, Shaheeda [Department of Radiography/Therapy, iThemba LABS, Somerset West (South Africa); Melvill, Roger [Department of Neurosurgery, Groote Schuur Hospital, Observatory (South Africa)

    2005-05-01

    Purpose: To investigate hypofractionated stereotactic proton therapy of predominantly large intracranial arteriovenous malformations (AVMs) by analyzing retrospectively the results from a cohort of patients. Methods and Materials: Since 1993, a total of 85 patients with vascular lesions have been treated. Of those, 64 patients fulfilled the criteria of having an arteriovenous malformation and sufficient follow-up. The AVMs were grouped by volume: <14 cc (26 patients) and {>=}14 cc (38 patients). Treatment was delivered with a fixed horizontal 200 MeV proton beam under stereotactic conditions, using a stereophotogrammetric positioning system. The majority of patients were hypofractionated (2 or 3 fractions), and the proton doses are presented as single-fraction equivalent cobalt Gray equivalent doses (SFEcGyE). The overall mean minimum target volume dose was 17.37 SFEcGyE, ranging from 10.38-22.05 SFEcGyE. Results: Analysis by volume group showed obliteration in 67% for volumes <14 cc and 43% for volumes {>=}14 cc. Grade IV acute complications were observed in 3% of patients. Transient delayed effects were seen in 15 patients (23%), becoming permanent in 3 patients. One patient also developed a cyst 8 years after therapy. Conclusions: Stereotactic proton beam therapy applied in a hypofractionated schedule allows for the safe treatment of large AVMs, with acceptable results. It is an alternative to other treatment strategies for large AVMs. AVMs are likely not static entities, but probably undergo vascular remodeling. Factors influencing angiogenesis could play a new role in a form of adjuvant therapy to improve on the radiosurgical results.

  4. Aborting a Malformed Fetus: A Debatable Issue in Saudi Arabia

    PubMed Central

    Al-Alaiyan, Saleh; AlFaleh, Khalid M.

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  5. Aborting a malformed fetus: a debatable issue in saudi arabia.

    PubMed

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  6. Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities

    PubMed Central

    Teves, Maria Eugenia; Sundaresan, Gobalakrishnan; Cohen, David J.; Hyzy, Sharon L.; Kajan, Illya; Maczis, Melissa; Zhang, Zhibing; Costanzo, Richard M.; Zweit, Jamal; Schwartz, Zvi; Boyan, Barbara D.; Strauss, Jerome F.

    2015-01-01

    Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single-nucleotide polymorphisms in the SPAG17 gene have been associated with human height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in Spag17 leads to skeletal malformations. Hind limb length in mutants was significantly shorter than in wild-type mice. Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area and the ratio of bone area to total area, leading to reductions in the ratio of marrow area/total area in the femur. Micro-CTs and von Kossa staining demonstrated increased mineral in the femur. Moreover, osteocalcin and osterix were more highly expressed in mutant mice than in wild-type mice femurs. These data suggest that femur bone shortening may be due to premature ossification. On the other hand, tibias appear to be shorter due to a delay in cartilage and bone development. Morphometric studies showed reduction in growth plate and bone formation. These defects did not affect bone mineralization, although the volume of primary bone and levels of osteocalcin and osterix were higher. Other skeletal malformations were observed including fused sternebrae, reduced mineralization in the skull, medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from knockout mice were shorter and fewer cells had primary cilia in comparison to cells from wild-type mice. In addition, Spag17 knockdown in wild-type MEFs by Spag17 siRNA duplex reproduced the shorter primary cilia phenotype. Our findings disclosed unexpected functions for Spag17 in the regulation of skeletal growth and mineralization, perhaps because of its role in primary cilia of chondrocytes and osteoblasts. PMID:26017218

  7. Ultrasound-guided endovenous diode laser in the treatment of congenital venous malformations: preliminary experience.

    PubMed

    Sidhu, Manrita K; Perkins, Jonathan A; Shaw, Dennis W W; Bittles, Mark A; Andrews, R Torrance

    2005-06-01

    The authors present their experience in treating congenital venous malformations with ultrasound (US)-guided endovenous diode laser. Six patients underwent treatment of eight venous malformations for complaints including pain, activity limitation, or cosmetic defect. At a mean follow-up interval of 14.5 months, all had either resolution of (five patients) or marked decrease in (one patient) pain, allowing them to resume previously limited activities. There were no instances of nerve damage or skin necrosis. One patient had a self-limited mucosal tongue base ulcer. In this small series of patients, endovenous laser treatment of venous malformations was effective during short-term follow-up. PMID:15947054

  8. [Management of a perineal arteriovenous malformation in a 5-year-old child].

    PubMed

    Galinier, P; Philandrianos, C; Bouali, O; Petit, P; Bardot, J; Salazard, B

    2008-06-01

    Arteriovenous malformations are seldom in children but raise important therapeutic problems. Apart from intracranial arteriovenous malformations, few observations have been described in the literature. We report the case of a superficial perineal arteriovenous malformation in a 5-year-old child. Tailored embolization followed shortly by thorough surgery is the best attitude. Surgery must totally eradicate the lesion to allow hope for a cure. Surgery should be reserved for forms that are extensive or a source of complications. Even total resection does not ensure non-recurrence. PMID:18456473

  9. Utility of 99mTc RBC Scintigraphy in Diagnosing Parotid Venous Malformations.

    PubMed

    Patel, Rosan; Saad, Hannan; Srinivasan, Ashok; Brown, Richard K J

    2015-07-01

    Venous malformations of the parotid glands are uncommon and can be difficult to confirm on routine anatomical imaging alone because of overlap of imaging features with other more common parotid lesions. Tc RBC scans combined with SPECT/CT offer a noninvasive way to diagnose parotid venous malformations without the need for biopsy. Combined with anatomical findings of phleboliths (when present), the diagnosis can be reliably determined. We present a case where MRI and biopsy were inconclusive, but the SPECT/CT was used to confirm the suspicion of a benign venous malformation. PMID:26018710

  10. Congenital cystic adenomatoid malformation presenting as lung abscess in a child.

    PubMed

    Kumar, K Jagadish; Anilkumar, M G; Shivamurthy, Y L; M Kumar, Prashanth

    2012-01-01

    Congenital cystic adenomatoid malformation composes of hamartomatous cystic lung lesions characterised by the presence of abnormal bronchiolar structures of varying sizes or distribution. In most of the cases, respiratory distress occurs during the neonatal period, and in about 90% of patients, congenital cystic adenomatoid malformation is diagnosed before the age of two years due to respiratory infection. We describe a case of congenital cystic adenomatoid malformation presenting as lung abscess in a 3-year six months old male clinically mimicking empyema. He undergone lobectomy and doing well in the follow-up. PMID:23289472

  11. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    PubMed

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-10-01

    In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'. We recommend avoiding the term 'lethal' and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  12. Intraosseous venous malformations of the zygoma: clarification of misconceptions regarding diagnosis and management.

    PubMed

    Defazio, Michael V; Kassira, Wrood; Camison, Liliana; Meshkov, Lauren; Robinson, Philip G; Kawamoto, Henry K; Thaller, Seth R

    2014-03-01

    Primary intraosseous venous malformations affecting the zygoma are rare vascular lesions, with only 35 cases reported in the surgical literature. Despite the establishment of the binary classification system, which serves to distinguish vascular tumors from malformations, inappropriate use of the term "hemangioma" to describe a variety of distinct vascular anomalies remains widespread. The authors present 3 cases of zygomatic intraosseous venous malformations and summarize the clinical, radiographic, and immunohistochemical features of these lesions. In each case, an insidious clinical course, combined with the pathognomonic finding of radiating trabeculae on computed tomography, suggests the diagnosis of intraosseous venous malformation. Negative glucose transporter isoform 1 immunoreactivity and histopathological analysis were used to reinforce this diagnosis in 1 patient. Management was individualized in each case, based on symptom complex and aesthetic concern. Given that the therapeutic approach to vascular anomalies is dependent on accurate diagnosis, resolution of semantic matters will optimize the management of these lesions. PMID:23241780

  13. Posttraumatic active bleeding of mediastinal mixed vascular malformation: a case report.

    PubMed

    Soudack, Michalle; Vladovski, Eugene; Guralnik, Ludmilla; Ben-Nun, Alon; Engel, Ahuva

    2006-07-01

    A case of an actively bleeding mediastinal mass in a 4-year-old boy who sustained multitrauma is described. A computed tomography (CT) scan of the chest upon admission demonstrated a mediastinal mass, which enlarged significantly as seen by repeat CT scan at 3 days with a concomitant drop in serum hemoglobin levels. The lesion was excised, and pathological examination established the diagnosis of a lymphatic-venous malformation containing bloody fluid. Lymphatic-venous malformations are rare vascular malformations and are usually found in the head and neck and less commonly at other sites. Spontaneous bleeding is a known complication, and there are few reports describing posttraumatic hemorrhage. Our case is the first description in the English medical literature of a posttraumatic bleeding mediastinal mixed vascular malformation and includes sequential CT scans illustrating the dynamic nature of hemorrhage. PMID:16818071

  14. Ethical language and decision-making for prenatally diagnosed lethal malformations

    PubMed Central

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-01-01

    Summary In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as ‘lethal’ or as ‘incompatible with life’. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated ‘lethal’ reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of ‘futility’. We recommend avoiding the term ‘lethal’ and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  15. Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels

    E-print Network

    Kim, Tyson N.

    Arteriovenous (AV) malformation (AVM) is a devastating condition characterized by focal lesions of enlarged, tangled vessels that shunt blood from arteries directly to veins. AVMs can form anywhere in the body and can cause ...

  16. [Cognitive and affective characteristics of children with malformation syndrome].

    PubMed

    Tosi, B; Maestro, S; Marcheschi, M

    1995-10-01

    The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development (3 with Sotos s., 1 with Williams s.). Psychological disturbances are present and thus divided: light disturbances (affective immaturity, neurotic-depressive organisation) in 11 subjects. Average disturbances (dysharmonious structure, and borderline personality) in 4 subjects; severe disturbances (psychosis) in 1 subject. Besides, above all in the group of subjects with X-Fragile s. and Down s., the tendency to assume behaviour of a regressive type, also postural, emerges. Among the 4 groups it is frequent to resort to defence mechanisms of hypomaniac type, accompanied by the denial of the patient's "sick parts". Another common characteristic concerns the quality of imaginary life which is shown to be repetitive and stereotype in content. Indeed these children's play activity characterized by a limited capacity of symbolization. Instead, when the symbolic process is more developed, contents concerning a deteriorated and destructive image of the Self emerges. Through the evaluation of family dynamics what is more noticeable is that the parent-malformed child interaction appears to be quite nonstimulating and noninvolving or incoherent, lacking in harmony and empathy towards the child's inner world. Indeed we can notice a lack of both verbal and extraverbal exchange of communication and brief interactive sequences which do not usually take into account the child's proposals and an affective tonality of depressive and nonaffective type. Therefore it may be concluded a certain smoothness in the clinical expression of the syndromes considered, both as far as the cognitive deficit entity and the psychic problems are concerned. Referring to the interactive dynamics between parents and children with dismorphic syndrom it seems that the child's pathology becomes the organizational summit of the above-mentioned relational dynamics among most of the patients examined... PMID:8569638

  17. Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

    PubMed Central

    Laureano, André; Carvalho, Rodrigo; Amaro, Cristina; Freitas, Isabel; Cardoso, Jorge

    2014-01-01

    Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type. PMID:25506441

  18. Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels.

    PubMed

    Requena, L; Sangueza, O P

    1997-10-01

    Classification of cutaneous vascular anomalies is difficult because conceptual confusion persists between vascular neoplasms and malformations. However, hemangiomas of the infancy fulfill criteria both for hyperplasia and neoplasm because they result from proliferation of endothelial cells, but often undergo complete regression. Despite these pitfalls we have classified cutaneous vascular anomalies into the following categories: hamartomas, malformations, dilatations of preexisting vessels, hyperplasias, benign neoplasms, and malignant neoplasms. In this first part of our clinicopathologic review of vascular anomalies, hamartomas, malformations, and dilatation of preexisting vessels are covered. Hamartomas include several combined vascular and melanocytic proliferations grouped as phakomatosis pigmentovascularis and the so-called eccrine angiomatous hamartoma that consists of proliferations of both eccrine glands and blood vessels. Vascular malformations result from anomalies of embryologic development, and in some of them the abnormalities of the involved vessels are more functional than anatomic, as is the case of nevus anemicus. In contrast, other cutaneous vascular malformations show striking morphologic abnormalities of the vascular structures. These anatomic vascular malformations are subdivided into the following groups: capillary, venous, arterial, lymphatic, and combined anomalies. Spider angioma, capillary aneurysm-venous lake, and telangiectases are not vascular proliferations at all, but dilations of preexisting vessels. In our opinion, most of the lesions described with the generic term of "angiokeratoma" are not authentic vascular neoplasms, but hyperkeratotic malformations of capillaries and venules or acquired telangiectases of preexisting blood vessels of the papillary dermis. Therefore the first group of these "angiokeratomas" are included in the vascular malformations section, and the second group are covered in the section of dilation of preexisting vessels. Lymphangiectases are considered the lymphatic counterpart of angiokeratomas because they result from ectasia of preexisting lymphatic vessels of the papillary dermis. PMID:9344191

  19. Laser treatment of mucosal venous malformations of the upper aerodigestive tract in 50 patients

    Microsoft Academic Search

    Behfar Eivazi; Susanne Wiegand; Afshin Teymoortash; Andreas Neff; Jochen A. Werner

    2010-01-01

    We examined the clinical appearance of mucosal venous malformations of the upper aerodigestive tract with regard to their\\u000a accessibility to laser therapy and further assessed the value of treatment of these lesions with the Nd:YAG and CO2 lasers. A retrospective study was performed in 50 patients who had undergone laser treatment for mucosal low-flow vascular\\u000a malformations of the upper aerodigestive

  20. Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery

    SciTech Connect

    Geyik, Serdar; Yavuz, Kivilcim; Keller, Frederick S. [Oregon Health and Sciences University, Dotter Interventional Institute (United States)], E-mail: kellerf@ohsu.edu

    2006-10-15

    Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported.

  1. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients

    Microsoft Academic Search

    T J Haitjema; T T Overtoom; C J Westermann; J W Lammers

    1995-01-01

    BACKGROUND--Pulmonary arteriovenous malformations may cause a number of complications when left untreated. Embolisation of the feeding vessels is a relatively new approach and information concerning its efficacy and long term results is scarce. METHODS--Pulmonary arteriovenous malformations with feeding arteries of > 3 mm were treated by embolisation. Right to left shunt fraction and arterial oxygen pressure breathing air (PaO2) were

  2. Pregnancy-associated acquired arteriovenous malformation of the nail unit: a novel cause of localized erythronychia.

    PubMed

    Rutnin, Suthinee; Nguyen, Jennifer V; Miller, Christopher J; DeHoratius, Danielle; Rubin, Adam I

    2012-11-01

    Localized longitudinal erythronychia describes a solitary red streak limited to a single nail unit. Localized longitudinal erythronychia can be caused by both benign and malignant entities. Most commonly, the cause is a benign process, such as an onychopapilloma. We report a case of an acquired subungual arteriovenous malformation that presented as localized longitudinal erythronychia during pregnancy. To our knowledge, this is the first report of localized longitudinal erythronychia arising from a pregnancy-associated arteriovenous malformation of the nail unit. PMID:22882235

  3. Magnetic resonance appearance of slow flow vascular malformations of the brainstem

    Microsoft Academic Search

    C. Griffin; R. DeLaPaz; D. Enzmann

    1987-01-01

    Twelve patients with slow flow brain stem vascular malformations had magnetic resonance scans performed on a 1.5 Tesla scanner using T1 (TR=400–800 ms, TE=25 ms) and T2 (TR=2000 ms, TE=20, 25, 80 ms) weighted scans. Eight patients (70%) had solitary brainstem vascular malformations while 4 (30%) had multiple lesions both supra and infratentorially. Five patients had venous angiomas demonstrated by

  4. A case of Dandy-Walker malformation associated with occipital meningocele, microphthalamia, and cleft palate

    Microsoft Academic Search

    S. Nishimaki; H. Yoda; K. Seki; T. Kawakami; H. Akamatsu; Y. Iwasaki

    1990-01-01

    We present a case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate. Small numbers of cases of Dandy-Walker malformation with occipital meningocele have been described in the literature, but to our knowledge, non of these also had microphthalmia or cleft palate. This association suggests that time of intrauterine origin of Dandy-Walker syndrome was in the sixth or

  5. 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

  6. Magnetic dynamo C-flows in Riemannian manifold as generalized Arnold's map

    E-print Network

    L Garcia de Andrade

    2008-03-05

    It is shown that C-flows in Riemannian three-dimensional compact manifold can be naturally considered as generalized dynamo Arnold's metric in compact manifolds, the so-called cat map dynamo. The generalized solution of self-induction equation in the background of this metric shows that one is allowed to consider stretching along both directions of the flow, instead of compressed in one direction and stretched in the other such as in Arnold's dynamo. Though this solution can be considered as unrealistic,at least for incompressible flows, there is another generalized solution which considers distinct stretch and compression intensities along distinct directions. Curvature tensor components are computed by making use of calculus of differential forms.

  7. CALCIUM FLUXES ACROSS THE SARCOPLASMIC Arnold M. Katz, JamesM. Watras, and Hitoshi Takenaka

    E-print Network

    Terasaki, Mark

    CALCIUM FLUXES ACROSS THE SARCOPLASMIC RETICULUM Arnold M. Katz, JamesM. Watras, and HitoshiM KCI,60.5 pM CaCI,, 1.02 mM MgCI,, and 40 mM histidine (pH 6.8) at 22-25°C. After calcium content reached a maximum [approximately 100 nmol/mg), a rapid calcium exchange was observed between the outside

  8. Absolute continuity of projected SRB measures of coupled Arnold cat map lattices

    Microsoft Academic Search

    F. BONETTO; A. KUPIAINEN; J. L. LEBOWITZ

    2005-01-01

    We study a d-dimensional coupled map lattice consisting of hyperbolic toral\\u000aautomorphisms (Arnold cat maps) that are weakly coupled by an analytic coupling\\u000amap. We construct the Sinai-Ruelle-Bowen measure for this system and study its\\u000amarginals on the tori. We prove they are absolutely continuous with respect to\\u000athe Lebesgue measure if and only if the coupling satisfies a nondegeneracy

  9. Absolute continuity of projected SRB measures of coupled Arnold cat map lattices

    E-print Network

    F. Bonetto; A. Kupiainen; J. Lebowitz

    2003-10-08

    We study a d-dimensional coupled map lattice consisting of hyperbolic toral automorphisms (Arnold cat maps) that are weakly coupled by an analytic coupling map. We construct the Sinai-Ruelle-Bowen measure for this system and study its marginals on the tori. We prove they are absolutely continuous with respect to the Lebesgue measure if and only if the coupling satisfies a nondegeneracy condition.

  10. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr. [Univ. of Kansas, Kansas City, KS (United States)] [and others] [Univ. of Kansas, Kansas City, KS (United States); and others

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  11. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  12. Cerebral cavernous malformations: natural history and clinical management.

    PubMed

    Gross, Bradley A; Du, Rose

    2015-07-01

    Cavernous malformations (CMs) are angiographically-occult clusters of dilated sinusoidal channels that may present clinically with seizures, focal neurological deficits and/or hemorrhage. Across natural history studies, the annual hemorrhage rate ranged from 1.6-3.1% per patient-year, decreasing to 0.08-0.2% per patient-year for incidental CMs and to 0.3-0.6% for the collective group of unruptured CMs. Prior hemorrhage is a significant risk factor for subsequent CM hemorrhage. Hemorrhage clustering, particularly within the first 2 years, is an established phenomenon that may confound results of natural history studies evaluating the rate of rehemorrhage. Indeed, rehemorrhage rates for hemorrhagic CMs range from 4.5-22.9% in the literature. Surgical resection is the gold standard treatment for surgically-accessible, symptomatic CMs. Incidental CMs or minimally symptomatic, surgically inaccessible eloquent lesions may be considered for observation. Stereotactic radiosurgery is a controversial treatment approach of consideration only for cases of highly aggressive, surgically inaccessible CMs. PMID:26098013

  13. An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis

    PubMed Central

    Byatnal, Aditi Amit; Rakheja, Mahima; Byatnal, Amit Raghavendra; Narayanaswamy, Venkadasalapathy

    2014-01-01

    Vascular anomalies of the head and neck region pose a certain diagnostic and therapeutic paradox. Management of arteriovenous malformations (AVM) is a challenge owing to the presence of abnormal vascular communications and high recurrence. We report a case of a 19-year-old male patient, who presented with diffuse swelling in the right temporal region. Magnetic Resonance Angiography (MRA) suggested it to be an AVM in the temporalis muscle, having afferents in the ascending pharyngeal artery, with cavernous angioma. Surgical excision of the lesion was carried out under carotid control. Histopathology of the excised specimen utilizing special stains confirmed the presence of AVM. An absence of distinct nidus concomitant along with the exuberant proliferation of capillaries between the muscle fibres suggested it be an infiltrative angioarchitectural variant. The present case highlights significance of diagnosing AVM in temporalis muscle which is a rare occurrence in head and neck region. Also, the importance of ruling out other closely resembling vascular diathesis, both non neoplastic and malignant is discussed. PMID:25386534

  14. Upper limb malformations in chromosome 22q11 deletions

    SciTech Connect

    Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z. [Bnai Zion Medical Center, Haifa (Israel)

    1996-03-29

    We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

  15. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

    PubMed Central

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-01-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  16. Gastrointestinal stromal tumor mimicking arteriovenous malformation of the jejunum.

    PubMed

    Shiozawa, Kazue; Watanabe, Manabu; Igarashi, Yoshinori; Ichimori, Mioe; Hirano, Naoki; Nakano, Shigeru; Maeda, Tetsuya; Yamazaki, Kunihiro; Okubo, Youichiro; Nemoto, Tetsuo; Shibuya, Kazutoshi; Sumino, Yasukiyo

    2011-09-01

    There have been case reports of small intestinal gastrointestinal stromal tumors (GISTs) complicated with arteriovenous malformation (AVM) and angiodysplasia and exhibiting intense tumor staining. Herein we report a GIST of the small intestine that showed tumor staining and early venous return on imaging studies, and so the patient was suspected to have AVM. A 62-year-old male presented with intermittent pain in the left abdominal region. Contrast-enhanced computed tomography revealed a 15-mm-long spindle-shaped mass showing intense tumor staining and early venous return through the jejunal vein. In the arterial phase, the attenuation value of the tumor was 250 Hounsfield units. Color Doppler ultrasonography simultaneously delineated vessels extending from the serosal side and turbulent signals showing a mosaic pattern in the tumor. On angiography, intense staining was observed in the peripheral part of the second branch of the jejunal artery. Although these findings suggested AVM, the tumor was diagnosed as a GIST based on pathological examination of the resected specimens. In this case, no AVM or change in vascular density was noted despite the careful examination of pathological specimens, and the cause of the tumor staining remained unknown. PMID:22110415

  17. Acute respiratory distress syndrome after onyx embolization of arteriovenous malformation.

    PubMed

    Tawil, Isaac; Carlson, Andrew P; Taylor, Christopher L

    2011-01-01

    Purpose. We report a case of a 60-year-old male who underwent sequential Onyx embolizations of a cerebral arteriovenous malformation (AVM) which we implicate as the most likely etiology of subsequent acute respiratory distress syndrome (ARDS). Methods. Case report and literature review. Results. Shortly after the second Onyx embolization procedure, the patient declined from respiratory failure secondary to pulmonary edema. Clinical entities typically responsible for pulmonary edema including cardiac failure, renal failure, iatrogenic volume overload, negative-pressure pulmonary edema, and infectious etiologies were evaluated and excluded. The patient required mechanical ventilatory support for several days, delaying operative resection. The patient met clinical and radiographic criteria for ARDS. After excluding other etiologies of ARDS, we postulate that ARDS developed as a result of Onyx administration. The Onyx copolymer is dissolved in dimethyl sulfoxide (DMSO), a solvent excreted through the lungs and has been implicated in transient pulmonary side effects. Additionally, a direct toxic effect of the Onyx copolymer is postulated. Conclusion. Onyx embolization and DMSO toxicity are implicated as the etiology of ARDS given the lack of other inciting factors and the close temporal relationship. A strong physiologic rationale provides further support. Clinicians should consider this uncommon but important complication. PMID:21687580

  18. Urinary tract anomalies in patients with anorectal malformation.

    PubMed

    Islam, M N; Hasina, K; Reza, M S; Hasanuzzaman, S M; Akter, T; Talukder, S A

    2015-04-01

    Urinary tract anomalies are common associated anomalies in anorectal malformation (ARM) and major contributory factor for high morbidity and mortality in ARM. In this study, urinary tract anomalies were evaluated in 72 patients of ARM (43 high varieties & 29 low varieties) that were admitted in Dhaka Medical College & Hospital (DMCH) during the period of January 2007 to April 2008. In all cases, evaluation was done by ultrasonogram (USG) and voiding cysto-urethrography (VCUG). Intravenous urography (IVU) was done in selected cases. Urinary tract anomalies were found in 20(27.85%) cases of ARM patients. These anomalies were significantly higher 16(37.2%) in high variety of ARM than 4(13.8%) those with low variety of ARM. The pattern of urological anomalies were vesicoureteral reflux (VUR - 35%), hydronephrosis due to PUJ obstruction (25%), posterior urethral valve (PUV - 15%), renal agenesis (10%), duplex ureter (10%) and bladder diverticulum (5%). Before definite management of ARM urological evaluation is essential to prevent renal damage and to reduce the morbidity and mortality. PMID:26007265

  19. Genetics of cerebral cavernous malformations: current status and future prospects.

    PubMed

    Choquet, H; Pawlikowska, L; Lawton, M T; Kim, H

    2015-09-01

    Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients. We reviewed articles published in PubMed in English prior to March 2015 and provide an update on CCM mutations and the screening strategies used to identify them. Further, we summarize the specific clinical features related to CCM genotypes. As 5% to 15% of familial CCM cases remain genetically unexplained, we also discuss future approaches to expand understanding of the genetic architecture of CCM. Finally, we discuss possible genetic modifiers of CCM disease severity and progression. Understanding the genetic architecture of CCM is essential for an earlier diagnosis of the disease, predictive testing of at-risk patients, and design of targeted medical therapies of which there are currently none available. PMID:25900426

  20. Microsurgical Treatment and Outcome of Pediatric Supratentorial Cerebral Cavernous Malformation

    PubMed Central

    Noh, Jung-Hoon; Cho, Kyung Rae; Yeon, Je Young; Seol, Ho Jun

    2014-01-01

    Objective The purpose of this study was to investigate the clinical features and outcomes of pediatric cavernous malformation (CM) in the central nervous system. Methods Twenty-nine pediatric patients with supratentorial CM underwent microsurgical excision. In selected cases, transparent tubular retractor system (TTRS) was used to reduce retraction injury and intraoperative neuromonitoring (IONM) was held to preserve functioning cortex. Patients' demographics and symptoms were reviewed and surgical outcomes were discussed. Results The main initial clinical manifestations included the following : seizures (n=13, 45%), headache (n=7, 24%), focal neurological deficits (n=3, 10%), and an incidental finding (n=6, 21%). Overt hemorrhage was detected in 7 patients (24%). There were 19 children (66%) with a single CM and 10 (34%) children with multiple CMs. In 7 cases with deep-seated CM, we used a TTRS to minimize retraction. In 9 cases which location of CM was at eloquent area, IONM was taken during surgery. There was no major morbidity or mortality after surgery. In the 29 operated children, the overall long-term results were satisfactory : 25 (86%) patients had no signs or symptoms associated with CMs, 3 had controllable seizures, and 1 had mild weakness. Conclusion With the assistance of neuronavigation systems, intraoperative neuromonitoring, and TTRS, CMs could be targeted more accurately and excised more safely. Based on the satisfactory seizure outcome achieved, complete microsurgical excision in children is recommended for CMs presenting with seizures but removal of hemosiderin-stained areas seems to be unnecessary. PMID:25368767

  1. Gastric foregut cystic developmental malformation: Case series and literature review

    PubMed Central

    Geng, Yan-Hua; Wang, Chang-Xing; Li, Jiang-Tao; Chen, Qing-Yu; Li, Xiu-Zhen; Pan, Hao

    2015-01-01

    Foregut cystic developmental malformation (FCDM) is a very rare lesion of the alimentary tract, especially in the stomach. We discuss the concepts of gastric duplication cyst, bronchogenic cysts, and FCDM. Nomenclature has been inconsistent and confusing, but, by some definitions, gastric duplication cysts involve gastric mucosa and submucosal glands, bronchogenic cysts involve respiratory mucosa with underlying cartilage and glands, and FCDM lacks gastric mucosa or underlying glands or cartilage but has pseudostratified ciliated columnar epithelium (PCCE). We searched our departmental case files from the past 15 years and identified 12 cases of FCDM in the alimentary tract. We summarize the features of these 12 cases including a report in detail on a 52-year-old man with a submucosal cyst lined with simple PCCE and irregular and stratified circular muscle layers that merged with gastric smooth muscle bundles near the lesser curvature of the gastric cardia. A literature review of cases with this histology yielded 25 cases. We propose the term gastric-FCDM for such cases. Our own series of 12 cases confirms that preoperative recognition of the entity is infrequent and problematic. The rarity of this developmental disorder, as well as a lack of understanding of its embryologic origins, may contribute to missing the diagnosis. Not appreciating the diagnosis preoperatively can lead to an inappropriate surgical approach. In contrast, presurgical recognition of the entity will contribute to a good outcome and reduced risk of complications. PMID:25593458

  2. Biology of cerebral arteriovenous malformations with a focus on inflammation.

    PubMed

    Mouchtouris, Nikolaos; Jabbour, Pascal M; Starke, Robert M; Hasan, David M; Zanaty, Mario; Theofanis, Thana; Ding, Dale; Tjoumakaris, Stavropoula I; Dumont, Aaron S; Ghobrial, George M; Kung, David; Rosenwasser, Robert H; Chalouhi, Nohra

    2015-02-01

    Cerebral arteriovenous malformations (AVMs) entail a significant risk of intracerebral hemorrhage owing to the direct shunting of arterial blood into the venous vasculature without the dissipation of the arterial blood pressure. The mechanisms involved in the growth, progression and rupture of AVMs are not clearly understood, but a number of studies point to inflammation as a major contributor to their pathogenesis. The upregulation of proinflammatory cytokines induces the overexpression of cell adhesion molecules in AVM endothelial cells, resulting in enhanced recruitment of leukocytes. The increased leukocyte-derived release of metalloproteinase-9 is known to damage AVM walls and lead to rupture. Inflammation is also involved in altering the AVM angioarchitecture via the upregulation of angiogenic factors that affect endothelial cell proliferation, migration and apoptosis. The effects of inflammation on AVM pathogenesis are potentiated by certain single-nucleotide polymorphisms in the genes of proinflammatory cytokines, increasing their protein levels in the AVM tissue. Furthermore, studies on metalloproteinase-9 inhibitors and on the involvement of Notch signaling in AVMs provide promising data for a potential basis for pharmacological treatment of AVMs. Potential therapeutic targets and areas requiring further investigation are highlighted. PMID:25407267

  3. Malformation of the human superior olive in autistic spectrum disorders.

    PubMed

    Kulesza, Randy J; Lukose, Richard; Stevens, Lisa Veith

    2011-01-01

    Autistic spectrum disorders (ASD) comprise a continuum of psychosocial disorders clinically characterized by social difficulties, impaired communication skills and repetitive behavioral patterns. Despite the prevalence of ASD, the neurobiology of this disorder is poorly understood. However, abnormalities in neuronal morphology, cell number and connectivity have been described throughout the autistic brain. Further, there is ample evidence that auditory dysfunction is a common feature of autism. Our preliminary investigation of neuronal morphology in the auditory brainstem of individuals with ASD focused on the medial superior olive (MSO) and revealed that neurons in this region were significantly smaller and rounder than in controls. In this report, we expand our investigation to examine all nuclei within the human superior olivary complex (SOC), an important auditory brainstem center. We examine neuronal morphology and neuronal number in four control (average age=15 years) and 9 autistic brains (average age=15 years). This detailed investigation supports our previous descriptions of the MSO, and also reveals significant dysmorphology in five other SOC nuclei. Moreover, we provide evidence of a consistent and significant decrease in the number of SOC neurons in the autistic brain. Our studies implicate an extensive malformation of the auditory brainstem in the hearing and language difficulties in individuals with ASD. The results from this investigation suggest that neonatal testing of auditory function may aid in the identification of individuals with ASD earlier than presently possible. PMID:20946889

  4. The delivered promise of prenatal imaging and a challenge to the utility of sildenafil for severe lymphatic malformations.

    PubMed

    George, Ryan; Shah, Rahul; Bulas, Dorothy; Kline, Shannon; Alexander, Sean; Reilly, Brian K

    2015-02-01

    We report the case of an infant with severe lymphatic malformation necessitating ex-utero intrapartum treatment (EXIT) procedure and examine recent advances in high resolution ultrasonography and magnetic resonance imaging, which allow for improved prenatal diagnosis of lesions that cause critical airway obstruction in the neonate. Treatments for lymphatic malformations including surgical resection, sclerotherapy, coblation, and sildenafil are discussed. Our patient did not have any reduction in the size of the lymphatic malformation from sildenafil as suggested in another series. PMID:25547959

  5. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

    Microsoft Academic Search

    R E Clatterbuck; C G Eberhart; B J Crain; D Rigamonti

    2001-01-01

    OBJECTIVESCerebral cavernous malformations are linked to mutations of the KRIT1 gene at the CCM1 locus and to mutations at two other loci, CCM2 and CCM3, for which genes are not yet identified. There is little information regarding the function of KRIT1. Histological and immunocytochemical analysis of cavernous malformations have not shed much light on their pathophysiology.METHODSMorphological analysis of cavernous malformations

  6. Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

    PubMed Central

    Ramírez de la Piscina, Patricia; Duca, Ileana; Estrada, Silvia; Calderón, Rosario; Ganchegui, Idoia; Campos, Amaia; Spicakova, Katerina; Salvador, Marta; Delgado, Elvira; Bengoa, Raquel; García-Campos, Francisco

    2014-01-01

    Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD). We report a case of a 59-year-old woman diagnosed with ADPKD associated with PLD. End-stage chronic renal failure with a secondary Budd-Chiari syndrome developed during the patient's clinical course. She underwent combined liver and kidney transplantation, with a successful response over a 9-year follow-up period. PMID:24987537

  7. Malformations and mortality in the Asian Common Toad induced by exposure to pleurolophocercous cercariae (Trematoda: Cryptogonimidae).

    PubMed

    Jayawardena, Uthpala A; Tkach, Vasyl V; Navaratne, Ayanthi N; Amerasinghe, Priyanie H; Rajakaruna, Rupika S

    2013-06-01

    Malformations and increased mortality due to infection by the digenetic trematode, Riberioa ondatrae have been reported for many species of amphibians. Severe malformations have also been reported in the Common Hourglass Tree Frog, Polypedates cruciger induced by pleurolophocercous cercariae in Sri Lanka in addition to the changes in the behaviour, development and survival of the host. We exposed pre-limb bud stage tadpoles (Gosner stages 25-26) of the Asian Common Toad, Duttaphrynus melanostictus to the same pleurolophocercous type cercariae under laboratory conditions. Molecular and morphological identification showed that these cercariae belonged Acanthostomum burminis infecting freshwater snakes as definitive hosts. These cercariae induced malformations (27.8%) and reduced survival to metamorphosis (53.8%). The magnitude of the effects increased with the dose of cercariae. Types of malformations were mainly axial, such as scoliosis and kyphosis. Severe limb malformations such as extra or missing limbs as reported for amphibians exposed to R. ondatrae were not observed in the D. melanostictus. Same authors reported a higher percentage of malformations previously when P. cruciger was exposed to the cercariae A. burminis compared to D. melanostictus. However, tadpoles of D. melanostictus, which are smaller compared to those of P. cruciger, experienced higher mortality than P. cruciger tadpoles. Trematode induced malformations and mortality in amphibians are highly variable and depend on multiple factors such as host species differences such as resistance to infection and tolerance, life-history characteristics such as size at metamorphosis and length of the metamorphosis period, and other factors such as size of the amphibian at the time of trematode exposure. PMID:23353759

  8. Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

    PubMed Central

    Blivet, Sandra; Cobarzan, Daniel; Beauchet, Alain; El Hajjam, Mostafa; Lacombe, Pascal; Chinet, Thierry

    2014-01-01

    Fifteen to fifty percent of patients with hereditary haemorrhagic telangiectasia have pulmonary arteriovenous malformations. The objective of this study was to measure the effect of the presence of pulmonary arteriovenous malformations and of their embolisation on respiratory-related quality of life (QoL). We prospectively recruited patients with a diagnosis of hereditary haemorrhagic telangiectasia based on the Curaçao criteria and/or the identification of a pathogenic mutation. Respiratory-related quality of life was measured using the Saint George’s Respiratory Questionnaire (SGRQ). Patients who underwent embolisation of pulmonary arteriovenous malformations completed the questionnaire before and 6–12 mo after the procedure. The 56 participants were divided into three groups: no pulmonary arteriovenous malformation (group A, n?=?10), small pulmonary arteriovenous malformations not accessible to embolotherapy (group B, n?=?19), and large pulmonary arteriovenous malformations accessible to embolotherapy (group C, n?=?27). The SGRQ score was significantly higher in group C compared to the other groups, indicating a worse respiratory-specific QoL. There was no significant difference between groups A and B. Among the 17 patients who underwent an embolisation, the SGRQ score decreased significantly after the procedure, to a value similar to that in patients without pulmonary arteriovenous malformation. Our results indicate that the presence of large but not small pulmonary arteriovenous malformations negatively affects the respiratory-related quality of life and that embolisation of pulmonary arteriovenous malformations normalizes the respiratory-related quality of life. PMID:24603803

  9. Genome-wide copy number variation study in anorectal malformations.

    PubMed

    Wong, Emily H M; Cui, Long; Ng, Chun-Laam; Tang, Clara S M; Liu, Xue-Lai; So, Man-Ting; Yip, Benjamin Hon-Kei; Cheng, Guo; Zhang, Ruizhong; Tang, Wai-Kiu; Yang, Wanling; Lau, Yu-Lung; Baum, Larry; Kwan, Patrick; Sun, Liang-Dan; Zuo, Xian-Bo; Ren, Yun-Qing; Yin, Xian-Yong; Miao, Xiao-Ping; Liu, Jianjun; Lui, Vincent Chi-Hang; Ngan, Elly Sau-Wai; Yuan, Zhen-Wei; Zhang, Shi-Wei; Xia, Jinglong; Wang, Hualong; Sun, Xiao-bing; Wang, Ruoyi; Chang, Tao; Chan, Ivy Hau-Yee; Chung, Patrick Ho-Yu; Zhang, Xue-Jun; Wong, Kenneth Kak-Yuen; Cherny, Stacey S; Sham, Pak-Chung; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercè

    2013-02-01

    Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy individuals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder. PMID:23108157

  10. In-Vitro Simulation of NBCA Embolization for Arteriovenous Malformation

    PubMed Central

    Inagawa, S.; Isoda, H.; Kougo, H.; Isogai S, S.; Sakahara, H.

    2003-01-01

    Summary Embolization using n-butyl-cyanoacrylate (NBCA) for arteriovenous malformation (AVM) is now a daily practice over the world, but there exists no objective data that can be a basis for discussion or decision-making on the best concentration and injection rate of NBCA mixture. The purpose of this study was to obtain objective data on control and behavior of NBCA mixture with an in vitro simulation system of NBCA embolization for AVM. A nidus model made of a one-ml syringe filled with small beads was connected to a pulsatile flow circuit. A microcatheter was introduced just before the nidus model. Endoluminal pressures proximal and distal to the nidus and flow volume through the nidus were measured. Digital subtraction angiography (DSA) was performed to calculate transit time of the contrast medium (CM) through the nidus. NBCA was injected at various rates with an autoinjector and transit time of NBCA through the nidus was calculated. 27 trials were completed. Transit time of CM through the nidus model is well correlated to flow volume per unit of time through the nidus model. Shorter the transit time, larger was the flow volume per unit of time. The correlation was statistically significant (P < .0001). Though statistical significance was not attained, transit time of NBCA mixture at 50% concentration had a tendency to be correlated to flow volume per unit of time through the nidus, and slower injection of the NBCA mixture led to slower filling of the nidus model. Though this simulation system was artificial and the results should be interpreted carefully, it was shown with this system that transit time of CM through the nidus could be a good index for flow volume per unit of time through the nidus. Also suggested was a possibility to utilize this in vitro system for research and training on NBCA embolization of AVM. PMID:20591314

  11. Dynamic contrast-enhanced MRI evaluation of cerebral cavernous malformations.

    PubMed

    Hart, Blaine L; Taheri, Saeid; Rosenberg, Gary A; Morrison, Leslie A

    2013-10-01

    The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22-76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E-6 to 9.63E-4 min(-1), mean 3.55E-4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E-4, not statistically different from mean WM Ki of 1.47E-4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

  12. Dynamic Contrast-Enhanced MRI Evaluation of Cerebral Cavernous Malformations

    PubMed Central

    Hart, B. L.; Taheri, S.; Rosenberg, G. A.; Morrison, L. A.

    2013-01-01

    The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22–76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E–6 to 9.63E–4 min?1, mean 3.55E–4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E–4, not statistically different from mean WM Ki of 1.47E–4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

  13. How Airway Venous Malformations Differ From Airway Infantile Hemangiomas

    PubMed Central

    Parhizkar, Nooshin; Manning, Scott C.; Inglis, Andrew F.; Finn, Laura S.; Chen, Eunice Y.; Perkins, Jonathan A.

    2013-01-01

    Objective To compare airway infantile hemangiomas (IHs) and venous malformations (VMs) clinically, radiographically, endoscopically, and histologically. Design Retrospective cohort study. Setting Tertiary care pediatric hospital. Patients The study included patients seen in the Vascular Anomaly Clinic, Seattle Children’s Hospital, Seattle, Washington, between 2001 and 2008. Methods All patients with airway vascular anomalies were identified by searching the Vascular Anomaly Quality Improvement Database and hospital discharge data. The data, which were analyzed with descriptive statistics and the Fisher exact test, included presenting age, sex, presenting signs, lesion site, and radiographic, endoscopic, and histologic findings.. Results Seventeen patients with airway lesions were identified, 6 with VMs and 11 with IHs. Patients with VMs presented at a mean (SD) age of 11.3 (13.7) months (age range, 3–39 months), while those with IHs presented at 3 (1.8) months of age (age range, 1–6 months) (P =.03). The patients with IHs were predominantly female (9 of 11 [81%]), while no sex difference was noted among the patients with VMs (3 of 6 [50%]). All patients with IHs presented with stridor and cutaneous lesions, whereas patients with VMs more often presented with hemoptysis or dysphagia (P = .001). Computed tomographic angiograms demonstrated enhancing endolaryngeal lesions in all IHs, while VMs enhanced poorly. Endoscopically, IHs were transglottic, while VMs were postcricoid or epiglottic (P <.001). Histologically, immunostained lesions showed submucosal lobules of capillaries lined by GLUT-1 (glucose transporter isoform 1)–positive endothelium in IHs, whereas VMs consisted of loosely organized venous channels that lacked GLUT-1 staining. Conclusion Patients with airway IHs and VMs differ in presenting age and signs, sex, airway lesion location, enhancement on computed tomographic angiograms, and histologic appearance. PMID:21242531

  14. Enrichment and Training Improve Cognition in Rats with Cortical Malformations

    PubMed Central

    Jenks, Kyle R.; Lucas, Marcella M.; Duffy, Ben A.; Robbins, Ashlee A.; Gimi, Barjor; Barry, Jeremy M.; Scott, Rod C.

    2013-01-01

    Children with malformations of cortical development (MCD) frequently have associated cognitive impairments which reduce quality of life. We hypothesized that cognitive deficits associated with MCD can be improved with environmental manipulation or additional training. The E17 methylazoxymethanol acetate (MAM) exposure model bears many anatomical hallmarks seen in human MCDs as well as similar behavioral and cognitive deficits. We divided control and MAM exposed Sprague-Dawley rats into enriched and non-enriched groups and tested performance in the Morris water maze. Another group similarly divided underwent sociability testing and also underwent Magnetic Resonance Imaging (MRI) scans pre and post enrichment. A third group of control and MAM rats without enrichment were trained until they reached criterion on the place avoidance task. MAM rats had impaired performance on spatial tasks and enrichment improved performance of both control and MAM animals. Although MAM rats did not have a deficit in sociability they showed similar improvement with enrichment as controls. MRI revealed a whole brain volume decrease with MAM exposure, and an increase in both MAM and control enriched volumes in comparison to non-enriched animals. In the place avoidance task, MAM rats required approximately 3 times as long to reach criterion as control animals, but with additional training were able to reach control performance. Environmental manipulation and additional training can improve cognition in a rodent MCD model. We therefore suggest that patients with MCD may benefit from appropriate alterations in educational strategies, social interaction and environment. These factors should be considered in therapeutic strategies. PMID:24358362

  15. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    PubMed Central

    Moraes, Paulo L.; Dias, Rodrigo S.; Weltman, Eduardo; Giordani, Adelmo J.; Benabou, Salomon; Segreto, Helena R. C.; Segreto, Roberto A.

    2015-01-01

    Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC) for brain arteriovenous malformations (AVM). Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler–Martin grading system, location, volume, modified Pollock–Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose–volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood–brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation.

  16. Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations

    PubMed Central

    2014-01-01

    Background Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thoracic vertebral malformations as well as thoracic limb malformations resembling KFS with a concurrent type IV dermoid sinus. Case presentation A 1.5 year-old Dachshund with congenital thoracic limbs deformities and cervical-thoracic vertebral malformations presented with cervical hyperesthesia, rigidity of the cervical musculature and tetraparesis. Neurologic, radiographic, and computed tomography (CT) (2D, 3D, CT fistulography) examinations revealed skeletal anomalies, a dermoid sinus in the cranial thoracic region and epidural gas within the vertebral canal. Surgical resection and histopathological evaluation of the sinus tract were performed and confirmed a type IV dermoid sinus. The clinical signs progressively recovered postoperatively, and no recurrent signs were observed after 6 months of follow-up. Conclusions Cervical vertebral malformations associated with limbs anomalies have not been reported in dogs and may represent a condition similar to KFS in humans. KFS can occur concurrently with other congenital conditions including dermoid sinus and should be included among the complex congenital anomalies described in dogs. PMID:24593884

  17. When hormone defects cannot explain it: malformative disorders of sex development.

    PubMed

    Grinspon, Romina P; Rey, Rodolfo A

    2014-12-01

    The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed. PMID:25472912

  18. Impaired cerebral vasoreactivity after embolization of arteriovenous malformations: assessment with serial acetazolamide challenge xenon CT

    SciTech Connect

    Tarr, R.W.; Johnson, D.W.; Horton, J.A.; Yonas, H.; Pentheny, S.; Durham, S.; Jungreis, C.A.; Hecht, S.T. (Presbyterian-Univ. Hospital, Pittsburgh, PA (USA))

    1991-05-01

    Embolization of a portion of the nidus of an arteriovenous malformation not only may alter hemodynamics within the nidus, but also may change blood flow dynamics in adjacent normal vessels. Sequential acetazolamide-challenge xenon CT cerebral blood flow studies were performed in eight patients before and after embolization of arteriovenous malformations to assess the hemodynamic effects on the major vascular territories supplying the malformation. Acetazolamide is a potent cerebral vasodilator, and its administration combined with cerebral blood flow studies allows assessment of cerebral vasoreactivity. In seven of the eight patients, one or more parenchymal areas exhibited a normal cerebral blood flow augmentation response to acetazolamide before embolization, but diminished acetazolamide flow augmentation was seen after embolization, indicating abnormal vasoreactivity. We found that the decrease in vasoreactivity peaked 6-10 days after embolization. In one of the eight patients, a temporary delayed neurologic deficit developed during a period of impaired cerebral vasoreactivity following embolization. Our results suggest that embolization of an arteriovenous malformation can induce vasoreactivity changes in adjacent normal vessels. Because these changes appear to be somewhat time-dependent, an appropriate interval should be observed between embolization stages or before surgical resection of an arteriovenous malformation following embolization to allow hemodynamic equilibration to occur. Acetazolamide challenge combined with serial cerebral blood flow studies following embolization enables determination of this hemodynamic equilibration.

  19. Long-Term Follow-up After Embolization of Pulmonary Arteriovenous Malformations with Detachable Silicone Balloons

    SciTech Connect

    Andersen, Poul Erik [Odense University Hospital, Department of Radiology (Denmark)], E-mail: anders1@dadlnet.dk; Kjeldsen, Anette D. [Odense University Hospital, Department of Otorhinolaryngology (Denmark)

    2008-05-15

    Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenous malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations.

  20. A fuzzy system for helping medical diagnosis of malformations of cortical development.

    PubMed

    Alayón, Silvia; Robertson, Richard; Warfield, Simon K; Ruiz-Alzola, Juan

    2007-06-01

    Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper. PMID:17197247

  1. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    PubMed

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

    2014-10-01

    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly. PMID:25318893

  2. Adding infection to injury: synergistic effects of predation and parasitism on amphibian malformations.

    PubMed

    Johnson, Pieter T J; Preu, Eric R; Sutherland, Daniel R; Romansic, John M; Han, Barbara; Blaustein, Andrew R

    2006-09-01

    We explored the importance of interactions between parasite infection and predation in driving an emerging phenomenon of conservation importance: amphibian limb malformations. We suggest that injury resulting from intraspecific predation in combination with trematode infection contributes to the frequency and severity of malformations in salamanders. By integrating field surveys and experiments, we evaluated the individual and combined effects of conspecific attack and parasite (Ribeiroia ondatrae) infection on limb development of long-toed salamanders (Ambystoma macrodactylum). In the absence of Ribeiroia, abnormalities involved missing digits, feet, or limbs and were similar to those produced by cannibalistic attack in experimental trials. At field sites that supported Ribeiroia, malformations were dominated by extra limbs and digits. Correspondingly, laboratory exposure of larval salamanders to Ribeiroia cercariae over a 30-day period induced high frequencies of malformations, including extra digits, extra limbs, cutaneous fusion, and micromelia. However, salamander limbs exposed to both injury and infection exhibited 3-5 times more abnormalities than those exposed to either factor alone. Infection also caused significant delays in limb regeneration and time-to-metamorphosis. Taken together, these results help to explain malformation patterns observed in natural salamander populations while emphasizing the importance of interactions between parasitism and predation in driving disease. PMID:16995623

  3. Juan Arellano 956-251-0636 arellano@math.montana.edu X X X X X X X X Liz Arnold 707-499-7341 arnold@math.montana.edu X X X

    E-print Network

    Dyer, Bill

    Juan Arellano 956-251-0636 arellano@math.montana.edu X X X X X X X X Liz Arnold 707-499-7341 arnold@math.montana.edu X X X Katie Banner 541-231- banner@math.montana.edu X X X X X X X X X X X Michael Broome 406-480-6579 broomemike@gmail.com X X X X X X X X X X X X X X Jacob Brown 406-461-5978 jbrown@math.montana.edu X X X X X X

  4. Accessory hepatic vein recanalization for treatment of Budd-Chiari syndrome due to long-segment obstruction of the hepatic vein: initial clinical experience

    PubMed Central

    Fu, Yu-Fei; Xu, Hao; Zhang, Ke; Zhang, Qing-Qiao; Wei, Ning

    2015-01-01

    PURPOSE We aimed to investigate the feasibility and effectiveness of accessory hepatic vein recanalization (balloon dilatation/stent insertion) for patients with Budd-Chiari syndrome (BCS) due to long-segment obstruction of the hepatic vein. METHODS From March 2010 to December 2013, 20 consecutive patients with BCS, due to long-segment obstruction of three hepatic veins, treated with accessory hepatic vein recanalization (11 males, 9 females; mean age, 33.4±10.9 years; range, 22–56 years) were included in this retrospective study. Data on technical success, clinical success, and follow-up were collected and analyzed. RESULTS Technical and clinical success was achieved in all patients. Each patient was managed with a single accessory hepatic vein recanalization procedure. No procedure-related complications occurred. The diameter of the accessory hepatic vein was 8.45±1.47 mm (6–11 mm) at the stem, and there were many collateral circulations between the hepatic vein and the accessory hepatic vein. The mean pressure of accessory hepatic vein decreased from 47.50±5.59 cm H2O before treatment to 28.80±3.47 cm H2O after treatment (P < 0.001). Abnormal levels of total bilirubin, albumin, aspartate aminotransferase, and alanine transaminase improved after the treatment. During the follow-up, three patients experienced restenosis or stenting of the accessory hepatic vein. CONCLUSIONS In BCS due to long-segment obstruction of the hepatic veins, it is important to confirm whether there is a compensatory accessory hepatic vein. For patients with a compensatory but obstructed accessory hepatic vein, recanalization is a simple, safe, and effective treatment option. PMID:25616271

  5. Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait.

    PubMed

    Madi, S A; Al-Naggar, R L; Al-Awadi, S A; Bastaki, L A

    2005-07-01

    We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations (12.5/1000 births): 49 (50.6%) babies had multiple system malformations, while 48 (49.4%) had single system anomalies. Of the 49 babies with multiple malformations, 21 (42.8%) had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system (12 cases), cardiovascular system (9 cases), skeletal system (7 cases) and gastrointestinal system (6 cases). Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders. PMID:16700386

  6. Surgical management of cavernous malformation of the optic nerve with canalicular extension

    PubMed Central

    Gonçalves, Vítor M.; Gonçalves, Victor

    2014-01-01

    Background: Cavernous malformations arising in a single optic nerves paring the chiasm (intracranial prechiasmatic optic nerve) and expanding into the optic canal are extremely rare lesions. Published series or case reports regarding the surgical removal of these vascular malformations within this specific location are scarce. Case Description: We present the first case to be published, of an intracranial optic nerve cavernous malformation with a contiguous canalicular component that was totally and successfully removed through a microsurgical pterional approach with excellent clinical outcome. Conclusion: This pathology should always be considered in the differential diagnosis of optic neuropathy and visual loss. Early detection and surgical proposal are mandatory, warranting the prevention of permanent damage to visual pathways. Radical resection is challenging, but usually curative and associated with favorable visual outcomes. PMID:25422788

  7. Intra-operative sclerotherapy for treatment of a head and neck venous malformation.

    PubMed

    Kourelis, K; Johnson, P; Girod, D

    2015-02-01

    Venous malformations of the head and neck are congenital lesions that grow steadily without spontaneous regression. We describe the management of a 47-year-old woman with an extensive subcutaneous venous malformation of bilateral submandibular regions and the entire tongue, refractory to multiple surgical excisions and percutaneous sclerotherapy sessions. The tumour lacked prominent feeding arteries for embolisation, but maintained high blood outflow via a few substantial venous branches. Sclerotherapy to the lesion was prevented by major communicating branches from the mass to the internal jugular vein bilaterally. Our approach entailed direct surgical access to the malformation, ligation of these communicating veins and intraoperative sclerotherapy with ethanol injection into the vessel stumps. PMID:26015655

  8. Effect of resection of an orbital arteriovenous malformation on central venous pressure

    PubMed Central

    Gilliland, Grant; Hise, Joseph; Thacker, Ike; Layton, Kennith F.

    2015-01-01

    We report the first utilization of intraoperative central venous pressure (CVP) monitoring in the resection of an orbital arteriovenous malformation. A 24-year-old woman with a history of a left orbital mass who had previously undergone resection of a cranio-orbital arteriovenous malformation presented with gradual recurrence in the left orbit. She visited the emergency department with sudden vision loss, which resolved over several hours. This transient vision loss was thought to be due to a steal phenomenon from the ophthalmic artery due to the residual vascular malformation. Further surgical resection was undertaken. A preoperative angiogram identified residual feeding vessels, and the larger vessels were embolized. At the start of the procedure, her CVP was elevated (29 mm Hg), as measured by a central venous line. The remaining feeding vessels were surgically ligated, and an intraoperative arteriogram confirmed their successful ablation. At the conclusion of the procedure, the CVP had decreased to 9 mm Hg. PMID:25829648

  9. Clinical results of stereotactic heavy-charged-particle radiosurgery for intracranial angiographically occult vascular malformations

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Phillips, M.H.; Frankel, K.A.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.; Lyman, J.T.

    1989-12-01

    Angiographically occult vascular malformations (AOVMs) of the brain have been recognized for many years to cause neurologic morbidity and mortality. They generally become symptomatic due to intracranial hemorrhage, focal mass effect, seizures or headaches. The true incidence of AOVMs is unknown, but autopsy studies suggest that they are more common than high-flow angiographically demonstrable arteriovenous malformations (AVMs). We have developed stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of inoperable intracranial vascular malformations, using the helium ion beams at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron and Bevatron. This report describes the protocol for patient selection, radiosurgical treatment planning method, clinical and neuroradiologic results and complications encountered, and discusses the strengths and limitations of the method. 10 refs., 1 fig.

  10. A developmental and genetic classification for malformations of cortical development: update 2012

    PubMed Central

    Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

    2012-01-01

    Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development. PMID:22427329

  11. Anthropogenic noise causes body malformations and delays development in marine larvae

    PubMed Central

    de Soto, Natacha Aguilar; Delorme, Natali; Atkins, John; Howard, Sunkita; Williams, James; Johnson, Mark

    2013-01-01

    Understanding the impact of noise on marine fauna at the population level requires knowledge about the vulnerability of different life-stages. Here we provide the first evidence that noise exposure during larval development produces body malformations in marine invertebrates. Scallop larvae exposed to playbacks of seismic pulses showed significant developmental delays and 46% developed body abnormalities. Similar effects were observed in all independent samples exposed to noise while no malformations were found in the control groups (4881 larvae examined). Malformations appeared in the D-veliger larval phase, perhaps due to the cumulative exposure attained by this stage or to a greater vulnerability of D-veliger to sound-mediated physiological or mechanical stress. Such strong impacts suggest that abnormalities and growth delays may also result from lower sound levels or discrete exposures during the D-stage, increasing the potential for routinely-occurring anthropogenic noise sources to affect recruitment of wild scallop larvae in natural stocks. PMID:24088868

  12. [Radiosurgical irradiation of 49 cerebral arteriovenous malformations using linear accelerator].

    PubMed

    Schlienger, M; Merienne, L; Lefkopoulos, D; Touboul, E; Laurent, A; Missir, O; Hancilar, T; Lefkopoulos, A

    1994-01-01

    During 1990 we treated 49 cases of arterio-veinous malformations (AVMs) using radiosurgery. We employed 15 MV X-Ray minibeams of a Saturne 43 Linac, eight additional collimators, 6-20 mm, the O Betti armchair and the Talairach stereotactic frame. Irradiation consisted of delivering 25 Gy at the periphery of the nidus corresponding to the 60-70% peripheral isodose range. We used the "Associated Target Methodology" and the three-dimensional treatment planning system Artemis-3D, both of which have been developed in our radiotherapy department. In December 1992, 44 out of 49 patients who had been treated were available for analysis with a 2-3-year follow-up. The overall obliteration rate was 33/44 (75%). According to the number of isocenters the obliteration rate was: 22/26 (85%) for one isocenter. In 18 multi-isocenters irradiation cases overall obliteration rate was 11/18 (61%). Two isocenters were used in nine of these 18 cases, the obliteration rate was 6/9; while when three isocenters were used it was 2/4 and in five cases of four isocenters irradiation the obliteration rate was 3/5. Obliteration rate for lesions < or = 4200 mm3 was 31/37 (84%). For greater volumes (5500 mm3 to 19000 mm3; median 9200 mm3) the obliteration rate was 2/7 whereas three others were partially (75 to 90%) obliterated and two remained inchanged. Before radiosurgery 21 cases received other treatment (mostly embolizations), the obliteration rate in this group was 15/21 (71.5%) while in previously untreated AVMs it was 18/23 (78%). A control arteriography was performed between 6 to 18 months after radiosurgery in 44 patients; three others refused the arteriography but are alive and well; two others had palliative irradiation, one of whom is dead. Out of 28 AVMs checked between 6 to 12 months 17/28 were obliterated (61%). In four cases, epilepsy was the first symptom; one has not suffered a further crisis whereas three others experienced a decrease in the number of crises. Two patients had recurrence of bleeding four and six months after irradiation (recurrence rate 2/44 = 5%). There were no lasting neurological consequences. PMID:7702900

  13. www.ScienceTranslationalMedicine.org 18 January 2012 Vol 4 Issue 117 117fs3 1 Arteriovenous malformations (AVMs) are

    E-print Network

    Schaffer, Chris B.

    S Arteriovenous malformations (AVMs) are vascular lesions associated with abnor- mal arteries and veins that lead to the formation or resolution of a vascular malformation. In contrast, Murphy et al. use actual

  14. Unusual Cardiac Malformations in Conjoined Twins: Thoracopagus Twins with Conjoined Pentalogy of Cantrell and an Omphalopagus Twin with Atretic Ventricles

    Microsoft Academic Search

    R. Spencer; W. H. Robichaux; D. W. Superneau; V. W. Lucas

    2002-01-01

    Two unrelated cases of conjoined twins were found to have cardiac malformations that apparently have not been reported previously. In one case, thoracopagus twins had an extensive thoracoabdominal wall defect that resulted in ectopia cordis of a conjoined heart along with evisceration of the shared liver and intestine along with one spleen. These malformations, accompanied by defects in the sternum,

  15. Study of 224 Cases of Oligohydramnios and Congenital Malformations in a Series of 225,669 Consecutive Births

    Microsoft Academic Search

    C. Stoll; Y. Alembik; M. P. Roth; B. Dott

    1998-01-01

    Objectives: To provide data on oligohydramnios associated with congenital anomalies in 225,669 consecutive pregnancies. Material and Methods: The malformations in this study came from births of known outcome recorded in our registry of congenital malformations. Routine ultrasonographic examination was performed. Diagnosis of oligohydramnios was made ultrasonographically. For each case, a control was chosen. Results: The prevalence of this association was

  16. [Elective cerebral arteriovenous malformation treatment with onyx after coil embolization of ruptured, flow-realeted aneurysm of the posterior circulation].

    PubMed

    Poncyljusz, Wojciech; Falkowski, Aleksander; Ra?, Monika; Sagan, Leszek; Kojder, Ireneusz

    2012-01-01

    Intracranial arteriovenous posterior circulation malformation was planned to embolize by onyx injection after acute coil embolization of ruptured flow-realeted aneurysm of posterior cerebral artery. Control angiography revealed completely embolized malformation with normal vessel patency at the end of procedure. There were no adverse events related to this procedure and no neurologic deficit at the discharge. PMID:23276020

  17. INVESTIGATIONS INTO THE CAUSES OF AMPHIBIAN MALFORMATIONS IN THE LAKE CHAMPLAIN BASIN OF NEW ENGLAND (AWARDED PROJECT)

    EPA Science Inventory

    The concurrent geographic extent and rate of amphibian malformations appear to have markedly increased above background levels in recent years in many states and Canadian provinces as documented by the North American Reporting Center for Amphibian Malformations (www.npwrc.usgs.go...

  18. Hereditary generalized juvenile polyposis: association with arteriovenous malformations and risk of malignancy.

    PubMed

    Radin, D R

    1994-01-01

    A young man with hereditary juvenile polyposis, a duodenal adenoma with carcinoma in situ, and multiple arteriovenous malformations of the lungs and liver is reported. Because of the risk of malignancy, it is suggested that patients with juvenile polyposis have endoscopic or radiographic surveillance of the upper gastrointestinal tract in addition to either prophylactic colectomy or regular colonoscopic surveillance with polypectomy. In view of the serious potential complications of associated pulmonary, cerebral, and hepatic arteriovenous malformations, screening of patients with juvenile polyposis with chest radiography, magnetic resonance imaging of the brain, and sonography of the liver may be warranted. PMID:8199545

  19. Use of the TriSpan Coil to Facilitate the Transcatheter Occlusion of Pulmonary Arteriovenous Malformation

    SciTech Connect

    Cil, Barbaros E., E-mail: barbaroscil@hotmail.com, E-mail: barbaros@hacettepe.edu.tr; Erdogan, Cueneyt; Akmangit, Ilkay; Cekirge, Saruhan; Balkanci, Ferhun [Hacettepe University School of Medicine, Department of Radiology (Turkey)

    2004-11-15

    Pulmonary arteriovenous malformation (PAVM) is a rare vascular malformation of the lung which may occur as an isolated entity or in association with hereditary hemorrhagic telangiectasia (HHT). Because of considerable risk of serious complications such as cerebral embolism, brain abscess and pulmonary hemorrhage, definitive treatment should be considered in most patients. Embolization with coils or detachable balloons is currently the preferred treatment. Paradoxical embolization of coils and balloons may happen, especially in patients with PAVMs with large feeding arteries. In this report we present our initial experience with the use of the TriSpan coil to lower the risk of coil migration during the transcatheter occlusion of PAVMs.

  20. Occlusion of an Intraosseous Arteriovenous Malformation With Percutaneous Injection of Polymethylmethacrylate

    SciTech Connect

    Ierardi, Anna Maria, E-mail: amierardi@yahoo.it [S. Giuseppe Hospital, Department of Radiology (Italy); Mangini, Monica, E-mail: monica.mangini@tin.it [University Hospital of Insubria, Department of Radiology (Italy); Vaghi, Massimo, E-mail: vaghim@yahoo.it [U. O. Department of Vascular Surgery, A. O. G. Salvini (Italy); Cazzulani, Alberto, E-mail: cazzulanialberto@tiscali.it [A. O. G. Salvini, Department of Radiology (Italy); Mattassi, Raul, E-mail: rmattassi@yahoo.it [U. O. Department of Vascular Surgery, A. O. G. Salvini (Italy); Carrafiello, Gianpaolo, E-mail: gcarraf@tin.it [University Hospital of Insubria, Department of Radiology (Italy)

    2011-02-15

    Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus. She underwent several treatments, but none of them was completely occlusive. The last treatment consisted of direct percutaneous puncture of the intraosseous alteration and injection of polymethylmethacrylate (PMMA), which is normally used in percutaneous vertebroplasty. We obtained complete occlusion of the humerus lytic lesion. To the best of our knowledge, this represents the first case of intraosseous AVM treated by percutaneous injection of PMMA.

  1. Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

    SciTech Connect

    Tay, Vincent Khwee-Soon, E-mail: vincentkstay@gmail.com [Singapore General Hospital, Department of Plastic, Reconstructive, and Aesthetic Surgery (Singapore); Mohan, P. Chandra, E-mail: chandra.mohan@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore); Liew, Wendy Kein Meng, E-mail: wendy.liew.km@kkh.com.sg [KK Women's and Children's Hospital, Department of Paediatrics (Neurology Service) (Singapore); Mahadev, Arjandas, E-mail: arjandas.mahadev@kkh.com.sg [KK Women's and Children's Hospital, Department of Orthopaedic Surgery (Singapore); Tay, Kiang Hiong, E-mail: tay.kiang.hiong@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore)

    2013-08-01

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.

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

    PubMed

    Eivazi, B; Werner, J A

    2014-03-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be 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:24710783

  3. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    PubMed Central

    de Blaauw, Ivo; Marcelis, Carlo L. M.; Wijnen, Rene M. H.; Brunner, Han; Midrio, Paola; Gamba, Piergiorgio; Clementi, Maurizio; Jenetzky, Ekkehart; Zwink, Nadine; Reutter, Heiko; Bartels, Enrika; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Hosie, Stuart; Märzheuser, Stefanie; Schmiedeke, Eberhard; Crétolle, Célia; Sarnacki, Sabine; Levitt, Marc A.; Knoers, Nine V. A. M.; Roeleveld, Nel; van Rooij, Iris A. L. M.

    2010-01-01

    Purpose The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. Methods The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case–parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data. Results Currently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents. Conclusion First results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention. PMID:20730541

  4. Ophthalmologic complications of meningomyelocele: a longitudinal study.

    PubMed Central

    Biglan, A W

    1990-01-01

    Patients with spina bifida have multiple ophthalmologic problems, many of which are preventable. Most of the problems are related to the hydrocephalus, which is caused by the coexisting Arnold-Chiari malformation. When patients are treated for hydrocephalus, and comprehensive eye care is available, 94% of the patients will have 6/12 visual acuity or better. Strabismus is common but it responds well to medical and surgical treatment. Children with spina bifida should have frequent examinations by an ophthalmologist who is familiar with the diagnosis and management of the defects recorded in this study. Images FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 PMID:2095031

  5. Return-to-play decisions after cervical spine injuries.

    PubMed

    Ellis, Jessica L; Gottlieb, Jamie E

    2007-01-01

    This article summarizes the current evidence and expert opinion on making return-to-play decisions after cervical spine injuries. Injuries discussed include fractures, central cord neuropraxia, stringers, disc herniations, strains, sprains, and instability. Each of these injuries may be complicated by coexistence of other conditions making return-to-play decisions more complicated. The congenital, developmental, and disease processes discussed include spear tackler's spine, congenital and developmental stenosis, Klippel-Feil syndrome, odontoid abnormalities, rheumatoid arthritis, spina bifida, and Arnold-Chiari malformations. Postsurgical considerations are also discussed. This review represents an abundant amount of expert opinion that was overwhelmingly based on case series, case reports, and biomechanical studies to support the return-to-play guidelines. PMID:17212914

  6. INCIDENCE AND IMPACT OF AXIAL MALFORMATIONS IN LARVAL BULLFROGS (RANA CATESBEIANA) DEVELOPING IN SITES POLLUTED BY A COAL-BURNING POWER PLANT

    Microsoft Academic Search

    William A. Hopkins; Justin Congdon; John K. Ray

    2000-01-01

    Amphibian malformations have recently received much attention from the scientific community, but few studies have provided evidence linking environmental pollution to larval amphibian malformations in the field. We document an increased incidence of axial malformations in bullfrog larvae (Rana catesbeiana) inhabiting two sites contaminated with coal combustion wastes. In the polluted sites, 18 and 37% of larvae exhibited lateral curvatures

  7. 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

  8. 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.…

  9. Range Dependent Phase Gradient Autofocus Douglas G. Thompson, James S. Bates, David V. Arnold, David G. Long,

    E-print Network

    Long, David G.

    Range Dependent Phase Gradient Autofocus Douglas G. Thompson, James S. Bates, David V. Arnold, which is valid for most SAR systems. However, lower alti- tude SA& have large range dependencies that cannot be ignored. A new phase estimator for PGA is introduced and extended to allow range dependence

  10. Pilot-scale testing of in situ vitrification of Arnold Engineering Development Center Site 10 contaminated soils

    Microsoft Academic Search

    C. L. Timmerman; M. E. Peterson

    1990-01-01

    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

  11. Les facteurs de productivit du Pin noir d'Autriche (Pinus nigra Arnold. ssp. nigricans Host. austriaca Hoss.

    E-print Network

    Paris-Sud XI, Université de

    Les facteurs de productivité du Pin noir d'Autriche (Pinus nigra Arnold. ssp. nigricans Host :Pin noir d'Autriche, Pinus nigra nigricans, Alpes du Sud, productivité, facteurs bioclimatiques noir d'Autriche (Pinus nigra Arn. ssp. nigricans Host. Var austriaca Endl.) des Alpes du Sud sont

  12. Arnold, R., Fletcher, D. and Daniels, K. (2014) Development and validation of the Organizational Stressor Indicator for Sport

    E-print Network

    McCusker, Guy

    2014-01-01

    Stressor Indicator for Sport Performers (OSI-SP). Journal of Sport and Exercise Psychology, 35 (2). pp. 180;180 Journal of Sport & Exercise Psychology, 2013, 35, 180-196 © 2013 Human Kinetics, Inc. Rachel Arnold is now encountered by sport performers. Keywords: athlete, demands, measurement, occupational, psychometric, stress

  13. MAGNETIC INDUCTION MACHINES EMBEDDED IN FUSION-BONDED SILICON David P. Arnold*, Florent Cros, Iulica Zana, and Mark G. Allen

    E-print Network

    MAGNETIC INDUCTION MACHINES EMBEDDED IN FUSION-BONDED SILICON David P. Arnold*, Florent Cros the design, fabrication, and characterization of laminated, magnetic induction machines intended for high-bonded silicon to form the machine structure. The induction machines were characterized in motoring mode using

  14. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

    PubMed

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases. PMID:26029310

  15. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature

    PubMed Central

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases.

  16. Copy number variations in children with brain malformations and refractory epilepsy.

    PubMed

    Wincent, Josephine; Kolbjer, Sintia; Martin, Daniel; Luthman, Aron; Åmark, Per; Dahlin, Maria; Anderlid, Britt-Marie

    2015-03-01

    Brain malformations are a major cause of therapy-refractory epilepsy as well as neurological and developmental disabilities in children. This study examined the frequency and the nature of copy number variations among children with structural brain malformations and refractory epilepsy. The medical records of all children born between 1990 and 2009 in the epilepsy registry at the Astrid Lindgren's Children's Hospital were reviewed and 86 patients with refractory epilepsy and various brain malformations were identified. Array-CGH analysis was performed in 76 of the patients. Pathogenic copy number variations were detected in seven children (9.2%). In addition, rearrangements of unclear significance, but possibly pathogenic, were detected in 11 (14.5%) individuals. In 37 (48.7%) patients likely benign, but previously unreported, copy number variants were detected. Thus, a large proportion of our patients had at least one rare copy number variant. Our results suggest that array-CGH should be considered as a first line genetic test for children with cerebral malformations and refractory epilepsy unless there is a strong evidence for a specific monogenic syndrome. PMID:25691404

  17. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    PubMed

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. © 2015 Wiley Periodicals, Inc. PMID:25899569

  18. Synergistic effects of glyphosate formulation and parasite infection on fish malformations and survival

    E-print Network

    Poulin, Robert

    Synergistic effects of glyphosate formulation and parasite infection on fish malformations the independent and combined effects of exposure to the common herbicide glyphosate and the trematode parasite, a New Zealand freshwater fish. We then inves- tigated how exposure to a glyphosate concentration

  19. Microsurgical retrieval of an endovascular microcatheter trapped during Onyx embolization of a cerebral arteriovenous malformation

    Microsoft Academic Search

    Brian P Walcott; Jason L Gerrard; Raul G Nogueira; Brian V Nahed; Anna R Terry; Christopher S Ogilvy

    2010-01-01

    ObjectiveCerebral arteriovenous malformations (AVMs) are vascular lesions that are amenable to various treatment modalities including stereotactic radiosurgery, fractionated radiotherapy, endovascular embolization, microsurgical obliteration or combined modality treatment. A potential complication of endovascular therapy with embolization material is microcatheter entrapment. We report on a patient for whom surgery was combined with endovascular embolization to obliterate an AVM and retrieve an entrapped

  20. Brain Aneurysms and Arteriovenous Malformations Advancements and Emerging Treatments in Endovascular Embolization

    Microsoft Academic Search

    Italo Linfante; Ajay K. Wakhloo

    2010-01-01

    Background and Purpose—Brain aneurysms and vascular malformations can cause cerebral hemorrhages, with devastating consequences for the patients and their families. Since the development of microcatheters and materials used for endovascular embolization, we have witnessed a rapid advancement in the technology and in the number or patients treated with this approach. The aim of this review is to survey recent data

  1. Spina bifida and parental occupation: Results from three malformation monitoring programs in Europe

    Microsoft Academic Search

    B. M. Blatter; N. Roeleveld; E. Bermejo; M. L. Martínez-Frías; C. Siffel; A. E. Czeizel

    2000-01-01

    As the evidence for an association between spina bifida and parental agricultural occupations is inconclusive, we evaluated this association and the potential associations between spina bifida and other parental occupations. Three register-based case–referent studies were conducted in Sweden, Spain, and Hungary. From the registries of congenital malformations in each country, 482, 478, and 1119 cases with spina bifida were identified,

  2. Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire

    Microsoft Academic Search

    T J David; F C McCrae; J P Bound

    1983-01-01

    The necropsy reports of 174 cases of anencephaly, born in the Fylde peninsula of Lancashire between 1957 and 1980, have been analysed for the presence of other malformations. The results were compared with a similar previous series from Bristol, though the Bristol study differed both in time (1948 to 1975) and in the fact that it was hospital based and,

  3. Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biology.

    PubMed

    Fisher, Oriana S; Boggon, Titus J

    2014-05-01

    Cerebral cavernous malformations (CCM) are neurovascular dysplasias that result in mulberry-shaped lesions predominantly located in brain and spinal tissues. Mutations in three genes are associated with CCM. These genes encode for the proteins KRIT1/CCM1 (krev interaction trapped 1/cerebral cavernous malformations 1), cerebral cavernous malformations 2, osmosensing scaffold for MEKK3 (CCM2/malcavernin/OSM), and cerebral cavernous malformations 3/programmed cell death 10 (CCM3/PDCD10). There have been many significant recent advances in our understanding of the structure and function of these proteins, as well as in their roles in cellular signaling. Here, we provide an update on the current knowledge of the structure of the CCM proteins and their functions within cellular signaling, particularly in cellular adhesion complexes and signaling cascades. We go on to discuss subcellular localization of the CCM proteins, the formation and regulation of the CCM complex signaling platform, and current progress towards targeted therapy for CCM disease. Recent structural studies have begun to shed new light on CCM protein function, and we focus here on how these studies have helped inform the current understanding of these roles and how they may aid future studies into both CCM-related biology and disease mechanisms. PMID:24287896

  4. A FETAL RAT TESTIS ENDOCRINE AND GENOMIC "SIGNATURE"ACCURATELY PREDICTS THE PHTHALATE SYNDROME OF MALFORMATIONS.

    EPA Science Inventory

    ABSTRACT BODY: Phthalate esters (PE) vary greatly in their potency to induce malformations during sexual differentiation in the male rat. Since in vitro assay batteries are currently unable to generate useful information on the potential of chemicals within this class to disrupt ...

  5. Reevaluation of the risk of fetal death and malformation after q Fever.

    PubMed

    Million, Matthieu; Roblot, France; Carles, Dominiques; D'Amato, Felicetta; Protopopescu, Camelia; Carrieri, Maria Patrizia; Raoult, Didier

    2014-07-15

    A meta-analysis of 136 Q fever pregnancies, including 4 new cases and 7 population-based serological studies, revealed significant increases in fetal death and malformation after Q fever during pregnancy. This poor obstetric outcome is prevented by antibiotic treatment. PMID:24748522

  6. Split cord malformation and situs inversus totalis: case report and review of the literature

    Microsoft Academic Search

    R. Shane Tubbs; John C. Wellons; W. Jerry Oakes

    2004-01-01

    Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. Case report The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis. Conclusions Recent compelling evidence from animal models and human case reports has led to hypotheses that

  7. Split cord malformation and situs inversus totalis: case report and review of the literature

    Microsoft Academic Search

    R. Shane Tubbs; John C. Wellons; W. Jerry Oakes

    2005-01-01

    Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. Case report The authors report a patient with situs inversus totalis and Type II split cord malformation. The patient had no symptoms and presented with scoliosis. Conclusions Recent compelling evidence from animal models and human case reports has lead to hypotheses that

  8. A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

    ERIC Educational Resources Information Center

    Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

    2012-01-01

    Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…

  9. Malformed selenoproteins are removed by the ubiquitin--proteasome pathway in Stanleya pinnata.

    PubMed

    Sabbagh, Melissa; Van Hoewyk, Doug

    2012-03-01

    Despite the widely accepted belief that selenium toxicity in plants is manifested by the misincorporation of selenocysteine into selenoproteins, there is a lack of data suggesting that selenoproteins are malformed or misfolded. Plant mechanisms to prevent the formation of selenoproteins are associated with increased selenium tolerance, yet there is no evidence to suggest that selenoproteins are malformed or potentially misfolded. We reasoned that if selenoproteins are malformed, then they might be degraded by the ubiquitin-proteasome pathway. The data demonstrate that selenate treatment induced the accumulation of both oxidized and ubiquitinated proteins, thus implicating both the 20S and 26S proteasome of Stanleya pinnata, a selenium-hyperaccumulating plant, in a selenate response. Inhibition of the proteasome increases the amount of selenium incorporated into protein, but not other elements. Furthermore, a higher percentage of selenium was found in a ubiquitinated protein fraction compared with other elements, suggesting that malformed selenoproteins are preferentially ubiquitinated and removed by the proteasome. Additionally, levels of the 20S and 26S proteasome and two heat shock proteins increase upon selenate treatment. Arabidopsis mutants with defects in the 26S proteasome have decreased selenium tolerance, which further supports the hypothesis that the 26S proteasome probably prevents selenium toxicity by removing selenoproteins. PMID:22323770

  10. THE FUNGICIDE PROCHLORAZ: IN VITRO ANDROGEN ANTAGONISM, PARTURITION DELAYS, AND MALE REPRODUCTIVE MALFORMATIONS IN RATS

    EPA Science Inventory

    The Fungicide Prochloraz: In vitro Androgen Antagonism, Parturition Delays, and Male Reproductive Malformations in Rats. Nigel C. Noriega, Joseph Ostby, Christy Lambright, Vickie S. Wilson, and L. Earl Gray Jr., noriega.nigel@epa.gov US EPA Prochloraz (PZ) is an imid...

  11. Ruptured Aneurysm of Intercostal Arteriovenous Malformation Associated With Neurofibromatosis Type 1: A Case Report

    SciTech Connect

    Kim, Hyung Jun; Seon, Hyun Ju, E-mail: sunaura@hanmail.net; Choi, Song; Jang, Nam Kyu [Chonnam National University Hospital, Department of Radiology (Korea, Republic of)

    2011-02-15

    Intercostal arteriovenous malformations (AVM) are rare, with most being secondary to trauma or iatrogenic therapeutic procedures. Only one case of presumably congenital AVM has been reported. Here we report the first case of a ruptured aneurysm of intercostal AVM associated with neurofibromatosis type 1 in a 32-year-old woman who experienced hypovolemic shock caused by massive hemothorax.

  12. Correlation of pressure measurements with angiographic characteristics predisposing to hemorrhage and steal in cerebral arteriovenous malformations

    SciTech Connect

    Norbash, A.M.; Marks, M.P.; Lane, B. [Stanford Univ. Medical Center, CA (United States)

    1994-05-01

    To determine whether there is a physiologic explanation for the predisposition of patients with certain angiographic characteristics to symptoms of hemorrhage and steal. Superselective transcatheter feeding arterial pressure and mean arterial pressure measurements were obtained before embolotherapy in 32 patients with cerebral arteriovenous malformations. Pressures were correlated with previously described angioarchitectural characteristics predisposing to hemorrhage and steal. These included size of the arteriovenous malformation, feeding artery length, venous drainage pattern, and angiomatous change. The feeding arterial pressure and feeding arterial pressure/mean arterial pressure ratios were significantly decreased in patients with angiomatous change. Feeding arterial pressure and feeding arterial pressure/mean arterial pressure ratios progressively decreased as lesions went from peripheral, to mixed, to central venous drainage. A trend for lower feeding arterial pressure was also demonstrated with greater feeding pedicle length. A statistically significant correlation could not be demonstrated between feeding arterial pressure or feeding arterial pressure/mean arterial pressure ratios and size of the arteriovenous malformation, hemorrhage, or symptoms of steal. Feeding arterial pressure measurements help provide a physiologic basis for the relationship between certain angiographic characteristics and hemorrhage and steal symptoms in patients with arteriovenous malformation. 27 refs., 1 fig.

  13. Bragg-peak proton-beam therapy for arteriovenous malformations of the brain

    Microsoft Academic Search

    Raymond N. Kjellberg; Tetsu Hanamura; Kenneth R. Davis; Susan L. Lyons; Raymond D. Adams

    1983-01-01

    Patients with arteriovenous malformations of the brain, who are subject to disabling or fatal recurrent hemorrhage, seizures, severe headache, and progressive neurologic deficits, may be considered unsuitable for conventional therapies (craniotomy with excision or embolization), usually because of the location, size, or operative risk of the lesion. We have treated such patients with stereotactic Bragg-peak proton-beam therapy and report the

  14. Transcatheter Embolization of a Large Symptomatic Pelvic Arteriovenous Malformation with Glubran 2 Acrylic Glue

    SciTech Connect

    Gandini, R.; Angelopoulos, G., E-mail: giorginos78@msn.com; Konda, D.; Messina, M.; Chiocchi, M.; Perretta, T.; Simonetti, G. [University Hospital of Rome 'Tor Vergata', Interventional Radiology Department (Italy)

    2008-09-15

    A young patient affected by a pelvic arteriovenous malformation (pAVM) with recurrent episodes of hematuria following exercise, underwent transcatheter embolization using Glubran 2 acrylic glue (GEM, Viareggio, Italy). All branches of the pAVM were successfully occluded. The patient showed prompt resolution of symptoms and persistent occlusion of the pAVM at the 6 month follow-up.

  15. A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults

    Microsoft Academic Search

    Rustam Al-Shahi; Charles Warlow

    2001-01-01

    Summary By systematically reviewing the literature, we have found that there is very little information about the frequency and clinical course of arteriovenous malformations (AVMs) of the brain in adults because the methods of most studies have been flawed, and AVMs tend to be treated once they are discovered. The incidence of AVMs is ~1 per 100 000 per year

  16. Arteriovenous malformation of the spinal cord in a 17-month-old child

    Microsoft Academic Search

    Tsuyoshi Tada; Keizo Sakamoto; Norio Kobayashi; Yuichiro Tanaka

    1985-01-01

    A case of arteriovenous malformation (AVM) of the cervical spinal cord occurring in a 17-month-old girl is reported. The initial symptom was quadriplegia of abrupt onset. Bilateral vertebral angiography disclosed 6 feeding arteries and a large draining vein. Complete obstruction of the blood supply to the AVM was confirmed angiographically, following cauterization and section of feeders via an anterior approach.

  17. Posterior sagittal anorectoplasty: Results in the management of 332 cases of anorectal, malformations

    Microsoft Academic Search

    Alberto Pefia

    1988-01-01

    This is a retrospective evaluation of the functional results obtained in 332 patients who underwent posterior sagittal anorectoplasty (PSARP) for the treatment of an anorectal malformation. All patients were operated on by the same person between September 1980 and June 1987. One hundred sixty-one patients were excluded: younger than 3 years, mentally retarded, colostomy still open, deaths, lost to follow-up,

  18. Mimosa tenuiflora as a cause of malformations in ruminants in the northeastern Brazilian semiarid rangelands.

    PubMed

    Pimentel, L A; Correa, F Riet; Gardner, D; Panter, K E; Dantas, A F M; Medeiros, R M T; Mota, R A; Araújo, J A S

    2007-11-01

    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 groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands. PMID:18039908

  19. Anesthetic management of caesarean section of a pregnant woman with cerebral arteriovenous malformation: a case report

    Microsoft Academic Search

    Demet Coskun; Ahmet Mahli; Zerrin Yilmaz; Pelin Cizmeci

    2008-01-01

    INTRODUCTION: The choice of anesthetic technique for Caesarean section of a pregnant woman with cerebral arteriovenous malformation (AVM) is made to maintain a stable cardiovascular system, but due to the rarity of this condition, no definitive guidelines exist. CASE PRESENTATION: We report the case of anesthetic management of Caesarean section of a pregnant woman with cerebral AVM (grade V). After

  20. Int J Cancer. Author manuscript Birth-related characteristics, congenital malformation, maternal

    E-print Network

    Paris-Sud XI, Université de

    Keywords Adolescent ; Adult ; Birth Order ; Birth Weight ; Case-Control Studies ; Child ; Child, PreschoolInt J Cancer. Author manuscript Page /1 12 Birth-related characteristics, congenital malformation- and perinatal factors may play a' role in its etiology. This study investigated the role of birth