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1

Difficult intubation in a parturient with syringomyelia and Arnold–Chiari malformation: Use of Airtraq™ laryngoscope  

PubMed Central

Anesthetic technique in parturient with syringomyelia and Arnold–Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold–Chiari type I malformation. PMID:22144932

Mustapha, Bensghir; Chkoura, K.; Elhassani, M.; Ahtil, R.; Azendour, H.; Kamili, N. Drissi

2011-01-01

2

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

PubMed Central

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.

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

2014-01-01

3

[Non-syringomelic medullary syndrome with Arnold-Chiari malformation (author's transl)].  

PubMed

The authors present 15 observations of a medullary syndrome of the non-syringomelic type, in patients with Arnold-Chiari's malformation (type I; 13 times - type II; twice), verified surgically, and without severe malformations of the occipito-vertebral articulation. Brown-Sequard's disease was present in 6 cases, subacute combined degeneration in 2 cases, and pyramidal lesions were very predominant in two other cases. The last 5 cases had cordonal signs associated with signs of disturbance of the anterior horns in the medulla, affecting all four limbs, and more especially the lower limbs. In four cases the medullary cavity was exposed, and in two cases extended along the whole length of the cord up to the terminal cone. The literature is reviewed and diagnostic and pathogenic problems raised by these myelopathies are discussed. They merit systematic investigation. PMID:749125

Trillet, M; Joyeux, O; Lapras, C; Schott, B; Girard, P F

1978-01-01

4

Viewing condition dependence of the gaze-evoked nystagmus in Arnold Chiari type 1 malformation.  

PubMed

Saccadic eye movements rapidly shift gaze to the target of interest. Once the eyes reach a given target, the brainstem ocular motor integrator utilizes feedback from various sources to assure steady gaze. One of such sources is cerebellum whose lesion can impair neural integration leading to gaze-evoked nystagmus. The gaze evoked nystagmus is characterized by drifts moving the eyes away from the target and a null position where the drifts are absent. The extent of impairment in the neural integration for two opposite eccentricities might determine the location of the null position. Eye in the orbit position might also determine the location of the null. We report this phenomenon in a patient with Arnold Chiari type 1 malformation who had intermittent esotropia and horizontal gaze-evoked nystagmus with a shift in the null position. During binocular viewing, the null was shifted to the right. During monocular viewing, when the eye under cover drifted nasally (secondary to the esotropia), the null of the gaze-evoked nystagmus reorganized toward the center. We speculate that the output of the neural integrator is altered from the bilateral conflicting eye in the orbit position secondary to the strabismus. This could possibly explain the reorganization of the location of the null position. PMID:24559612

Ghasia, Fatema F; Gulati, Deepak; Westbrook, Edward L; Shaikh, Aasef G

2014-04-15

5

Infratentorial dysembryoplastic neuroepithelial tumor (DNT) associated with Arnold-Chiari malformation.  

PubMed

Dysembryoplastic neuroepithelial tumor (DNT), a benign neoplasm, is now a well recognized clinicopathological entity. We report the second case of DNT in the cerebellum occurring in a 20-year-old male presenting with ataxia. He also had Arnold-Chiari malformation of the adult type. Histologically the tumor was a "simple" DNT having the specific "glioneuronal" element, namely oligodendrocyte-like cells (OLCs), mucoid change and floating neurons (Purkinje cells). A striking feature was the perpendicular arrangement of the neuropil columns extending from the pial surface to white matter similar to those seen in supratentorial examples. On immunstaining some of the OLCs were positive for synaptophysin and negative for glial fibrillary acidic protein (GFAP), glucocerebroside, tau and MAP-2. The neuropil was synaptophysin-positive and focally positive for MAP-2 and GFAP as well. The Purkinje cells were morphologically normal but malaligned and were positive for phosphorylated neurofilament suggesting secondary dysplastic changes. A transition of the lesion into relatively normal cerebellum preserving the folial architecture was observed. The histological and immunochemical features of the DNT in cerebellum suggests its possible origin from the pluripotential external granular layer. PMID:9832257

Yasha, T C; Mohanty, A; Radhesh, S; Santosh, V; Das, S; Shankar, S K

1998-01-01

6

Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report  

PubMed Central

Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation. Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA). CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages. PMID:23433005

2013-01-01

7

Chiari II Malformation and Syringomyelia  

Microsoft Academic Search

The Chiari II malformation was described at the end of the nineteenth century (1891–1896) by Hans Chiari, a German pathologist,\\u000a as a congenital malformation in a post-mortem examination of a child who died from a constellation of malformations including\\u000a prolapse of the cerebellum, part of the brain stem and part of the hindbrain, involving the upper part of the cervical

Spyros Sgouros

8

Chiari Malformation: Symptoms  

MedlinePLUS

... the back of the head, is the defining Chiari symptom Chiari headaches are usually described as starting ... and upper back is another common problem with Chiari due to several causes: nerves are compressed by ...

9

Chiari malformation in craniosynostosis  

Microsoft Academic Search

Introduction: Chiari mal- formation (CM) is a frequent finding in multisutural and syndromic cra- niosynostosis, occurring in 70% of patients with Crouzon's syndrome, 75% with oxycephaly, 50% with Pfeiffer's syndrome and 100% with the Kleeblattschädel deformity. The pathogenesis of this condition and rationale for treatment are still con- troversial. Discussion: Since its first description in 1972, several factors have been

Giuseppe Cinalli; Pietro Spennato; Christian Sainte-Rose; Eric Arnaud; Ferdinando Aliberti; Francis Brunelle; Emilio Cianciulli; Dominique Renier

2005-01-01

10

Chiari malformations: diagnosis, treatments and failures.  

PubMed

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change. PMID:25418275

Abd-El-Barr, M M; Strong, C I; Groff, M W

2014-12-01

11

Chiari Malformation in otology practice.  

PubMed

The purpose of the study was to evaluate prevalence, characteristic symptoms, and management of Chiari Malformation 1 (CM1). A retrospective chat review was made in Otology Tertiary Department including 439 otologic patients referred to the Helsinki University Hospital Radiology Department for head magnetic resonance imaging (MRI) during 2005 and also among 42 patients seen at the Department of Neurosurgery in years 2001-2005 with a diagnosis of CM1. We made a structured analysis of medical records focusing on patient history, neurologic symptoms, and radiologic findings. For surgical patients, information was collected on symptoms, treatment, and operative outcome. The prevalence of CM1 in the 439 otologic patients was 0.9%. Most CM1 patients sent to the Neurosurgery Department were operated on. Two months postoperatively, 26 patients (68%) had benefited from the surgery, but 12 patients (32%) experienced no change to symptoms. The possibility of CM1 should be borne in mind in patients presenting with atypical benign positional vertigo or recurrent facial paresis. PMID:19409739

Levo, Hilla; Tapani, Erna; Karppinen, Atte; Kentala, Erna

2010-02-01

12

The pediatric Chiari I malformation: a review  

Microsoft Academic Search

Background  Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions  Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for

R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes

2007-01-01

13

The Chiari malformations: A review with emphasis on anatomical traits.  

PubMed

Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. Clin. Anat. 28:184-194, 2015. © 2014 Wiley Periodicals, Inc. PMID:25065525

Cesmebasi, Alper; Loukas, Marios; Hogan, Elizabeth; Kralovic, Sara; Tubbs, R Shane; Cohen-Gadol, Aaron A

2015-03-01

14

Non-operative outcomes in Chiari I malformation patients.  

PubMed

While postoperative outcomes of Chiari I malformation patients have been well-reported, there is a paucity of literature concerning non-operative management in these patients. We retrospectively identified patients with Chiari I malformation who were not recommended for surgery based on lack of clinical objective findings or inconsistent cough headaches and conducted patient follow-up with a prospective telephone survey. Of the 68 patients (mean age at diagnosis 30.1±17.4years), 72% were female and 31% were pediatric patients (age at diagnosis ?18years). Average follow up was 4.9±2.9years. Typical presenting symptoms included cough headache, non-specific headache, nausea, ataxia, dysphagia and paresthesias. Overall, 40% of patients who had cough headaches and 61.5% of patients with non-specific headaches reported improvement. The presence of subjective sensory symptoms was significantly associated with less likelihood of cough headache improvement while the presence of a cough headache was also associated with a lower likelihood of improvement in all non-cough symptoms. The pediatric subgroup had a greater rate of improvement with all cases of nausea/emesis and paresthesias improved or resolved at follow-up. Overall 67% of pediatric patients had improved cough headache and 71% had improvement of migraines/diffuse headaches. We found that many symptoms of Chiari I patients from our conservatively managed cohort either improved or remained unchanged over time. However, the presence of cough headaches was a significant negative predictor of concomitant symptom improvement. This further validates the view that patients with cough headaches should be considered for surgical intervention and provides useful information to counsel patients. PMID:25080302

Killeen, Amy; Roguski, Marie; Chavez, Alexis; Heilman, Carl; Hwang, Steven

2015-01-01

15

Chiari malformation type I: a neuropsychological case study.  

PubMed

Chiari Malformation type I (CM-I) is a congenital anomaly that occurs when the cerebellar tonsils protrude through the foramen magnum. Individuals with this condition are typically asymptomatic and the identification of the malformation is usually an incidental finding during the course of treating another disorder. This case study explores the neuropsychological sequelae of two unique cases of CM-I in combat veterans. Neuropsychological evaluation revealed that both patients demonstrated preserved general cognitive functioning but had varying patterns of performance on measures of visuospatial, executive functioning, and processing speed. In terms of affective functioning, both endorsed significant depressive symptomatology, but had varying patterns of severity on other estimates of psychiatric symptomatology. Overall, results suggest that there is not one pattern of cognitive and affective functioning associated with CM-I and that environmental and psychological rather than neurological factors should be considered when evaluating cognitive and affective functioning. These cases also highlight the need for neuropsychological evaluation in CM-I in terms of providing guidance for psychoeducation and psychotherapy. PMID:24902143

Klein, Robert; Hopewell, C Alan; Oien, Michael

2014-06-01

16

Presentation and Management of Hydromyelia in Children with Chiari Type-II Malformation  

Microsoft Academic Search

Hydromyelia in patients with myelomeningocele and Chiari-II malformation is a relatively frequent finding on MRI studies. However, not all children develop symptoms from the hydromyelia that requires treatment. Furthermore, treatment of hydromyelia in spina bifida patients is rather complex due to the associated malformations. The authors retrospectively analyzed 231 MRI studies carried out on spina bifida patients who presented neurological

Frank La Marca; Martin Herman; John A. Grant; David G. McLone

1997-01-01

17

Pseudotumor cerebri: as a cause for early deterioration after Chiari I malformation surgery  

Microsoft Academic Search

Introduction  Chiari I malformation is associated with a small posterior fossa which cannot accommodate a growing hindbrain. Pseudotumor\\u000a cerebri has been linked to developmental posterior fossa malformations.\\u000a \\u000a \\u000a \\u000a Case reports  The authors present two cases of early-deterioration post-Chiari I malformation surgery in a young and an adult patient, which\\u000a were linked to raised intracranial pressure and had a stormy post-operative period. The pathophysiology

Sunil V. Furtado; K. Visvanathan; Kalyan Reddy; A. S. Hegde

2009-01-01

18

MRI findings and sleep apnea in children with Chiari I malformation.  

PubMed

Chiari I malformation is characterized by downward herniation of the cerebellar tonsils through the foramen magnum. Scant data are available on the clinical course, relationship to the extent of herniation on magnetic resonance imaging in Chiari I malformation and the presence of sleep-disordered breathing on polysomnography. Retrospective analysis was performed looking at polysomnographic findings of children diagnosed with Chiari I malformation. Details on how Chiari I malformation was diagnosed, brainstem magnetic resonance imaging findings, and indications for obtaining the polysomnogram in these patients were reviewed. We also reviewed available data on children who had decompression surgery followed by postoperative polysomnography findings. Twenty-two children were identified in our study (11 males, median age 10 years, range 1 to 18). Three had central sleep apnea, five had obstructive sleep apnea, and one had both obstructive and central sleep apnea. Children with sleep-disordered breathing had excessive crowding of the brainstem structures at the foramen magnum and were more likely to have a greater length of herniation compared with those children without sleep-disordered breathing (P = 0.046). Patients with central sleep apneas received surgical decompression, and their conditions were significantly improved on follow-up polysomnography. These data suggest that imaging parameters may correlate with the presence of sleep-disordered breathing in children with Chiari I malformation. PMID:23498564

Khatwa, Umakanth; Ramgopal, Sriram; Mylavarapu, Alexander; Prabhu, Sanjay P; Smith, Edward; Proctor, Mark; Scott, Michael; Pai, Vidya; Zarowski, Marcin; Kothare, Sanjeev V

2013-04-01

19

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

PubMed Central

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

Memarpour, Roya; Gonzalez-Ibarra, Fernando

2015-01-01

20

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

PubMed Central

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

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

2014-01-01

21

Chiari I malformation without hydrocephalus: acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV)  

Microsoft Academic Search

Introduction  In a small subset of patients, a Chiari malformation can present with signs of raised intracranial pressure due to obstruction\\u000a of cerebrospinal fluid flow or with the raised intracranial pressure as the primary pathological driving force resulting in\\u000a tonsillar herniation.\\u000a \\u000a \\u000a \\u000a Case report  The authors report a unique case in a 14-year-old boy with a Chiari malformation type 1–syringomyelia complex with slit-like

Jothy Kandasamy; Rachel Kneen; Melissa Gladstone; William Newman; Tawil Mohamed; Conor Mallucci

2008-01-01

22

Chiari malformation I and autism spectrum disorder: an underrecognized coexistence.  

PubMed

OBJECT Patients with symptomatic Chiari malformation Type I (CM-I) frequently present with headaches, neck pain, difficulty swallowing, and balance disturbances. In children with autism spectrum disorder (ASD), diagnosing CM-I can be a challenging task. Moreover, even if symptomatic, some patients do not undergo further evaluation or management, as their presentations are attributed to autism and its myriad symptoms. Therefore, cranial MRI findings were reviewed after evaluating and treating patients with coexisting ASD and CM-I. In this paper, the authors report on 5 children with ASD and symptomatic CM-I, including their clinical presentation, imaging studies, management, and outcomes, and discuss the likely underrecognized coexistence of these conditions. METHODS All pediatric patients with ASD and cranial MRI conducted for any reason in the period from 1999 to 2013 were considered for analysis. All cases with concomitant symptomatic CM-I were eligible for this retrospective analysis. RESULTS One hundred twenty-five pediatric patients diagnosed with ASD had undergone MRI, and 9 of them had evidence of cerebellar tonsillar herniation. Five patients were symptomatic and underwent suboccipital craniectomy, a C-1 or a C-1 and C-2 laminectomy, and duraplasty with bovine pericardium or Type I collagen allograft. There were no intraoperative complications. All patients showed symptom improvement and/or resolution of presenting symptoms, which included headache, dysphasia, speech, and irritability. CONCLUSIONS There is no identified cause of autism. Children with ASD can be difficult to assess specifically in a neurological examination. Thus, cranial MRI considered when completing a comprehensive diagnostic evaluation. While cranial MRI is not a routine part of ASD evaluation, this study demonstrates that CM-I and ASD may coexist and be underrecognized. The study reinforces the importance of a comprehensive medical evaluation designed to elucidate neurological findings in children with impaired communication abilities and suggests the judicious use of neuroimaging. PMID:25396704

Jayarao, Mayur; Sohl, Kristin; Tanaka, Tomoko

2014-11-14

23

A Novel Endoscopic Technique to Suboccipital Decompression and Atlas Laminectomy for Chiari Malformation Type I: Technical Note  

Microsoft Academic Search

Objective: In order to make Chiari decompression simple and less invasive while using direct visualization, a noval solely endoscopic procedure has been employed for the decompression of Chiari malformation type 1. Methods: Zero degree and 30°-angled lens endoscope have been used for the resections of occiput and C1 lamina, and to maximally widen the rim of craniovertebral junction (CVJ) bilaterally

Xiao Di; Mark Luciano

24

Application of ventriculoperitoneal shunt as a treatment for hydrocephalus in a dog with syringomyelia and Chiari I malformation  

PubMed Central

A twenty-month-old Chihuahua male dog was presented to us suffering with ataxia. Based on the physical examination, X-ray and magnetic resonance imaging (MRI) examinations, we diagnosed the dog with hydrocephalus, Chiari I malformation and syringomyelia. Treatment consisted of internal medical treatment and the placement of a ventriculoperitoneal (VP) shunt. The ventricular dilatation was relieved and the dog improved neurologically; however, the Chiari I malformation and syringomyelia remained after surgically positioning the VP shunt. PMID:16645349

Kim, Heejaung; Watanabe, Malaika; Nakaichi, Munekazu; Taura, Yasuho

2006-01-01

25

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

PubMed Central

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

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

2012-01-01

26

Imaging Findings in Chiari I Malformation with Syringomyelia in a Case of Charcot Shoulder  

PubMed Central

Neuropathic arthropathy of the shoulder is reported in only 5% of cases. Here, we report a rare case of neuropathic arthropathy of the shoulder, secondary to Chiari malformation Type I with associated syringomyelia, that remained undetected for four years. A 38-year-old female presented to our Department with a swelling over the right shoulder that had persisted for four years. X-ray of the joint showed destruction of the head of the right humerus, with typical blunt amputated appearance of the bone and increased joint space. Magnetic resonance imaging showed destruction and lateral dislocation of the head of the humerus. Large amount of fluid collection was seen in and around the right shoulder joint. Neuropathic osteoarthropathy can be defined as bone and joint changes that occurs secondary to loss of sensation. In our case, neuropathic shoulder joint was secondary to syringomyelia associated with Chiari I malformation. PMID:22059148

Kumar, Shantanu; Sharma, Vineet; Kumar, Santosh; Jain, Sonal

2011-01-01

27

Sleep-Disordered Breathing as Presenting Manifestation of Chiari Type I Malformation: A Case Report  

PubMed Central

Chiari Type I malformation (CM-I) is a rare disorder with displaced cerebellar tonsils through foramen magnum. Here we present a 30-year-old man with severe central and obstructive sleep apneas as presenting manifestations of CM-I. The patient underwent neurosurgery and the follow-up polysomnography revealed the resolution of central apnea while obstructive apnea remained unchanged. Central sleep apnea (CSA) could be associated with an underlying pathology; thus, further investigation is recommended in affected subjects. PMID:25506375

Adimi, Parisa; Bakhshayesh-Karam, Mehrdad; Kiapour, Nazanin

2014-01-01

28

Peak Systolic and Diastolic CSF Velocity in the Foramen Magnum in Adult Patients with Chiari I Malformations and in Normal Control Participants  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Abnormal flow of CSF through the foramen magnum has been implicated in the pathogenesis of clinical deficits in association with Chiari I malforma- tion. The purpose of this study was to test the hypothesis that peak CSF velocities in the foramen magnum are increased in patients with Chiari I malformations. METHODS: Eight adult patients with symptomatic Chiari

Victor M. Haughton; Frank R. Korosec; Joshua E. Medow; Maria T. Dolar; Bermans J. Iskandar

29

Syringobulbia Caused by Delayed Postoperative Tethering of the Cervical Spinal Cord – Delayed Complication of Foramen Magnum Decompression for Chiari Malformation  

Microsoft Academic Search

Summary  ?Postoperative tethering of the high cervical spinal cord is a rare cause of neurological deterioration after foramen magnum\\u000a decompression (FMD) with duraplasty for Chiari type I malformation. A review of the literature revealed that only 5 cases\\u000a have been reported. This entity is not widely known to occur as a complication of the common surgical procedure for Chiari\\u000a type I

Y. Takahashi; Y. Tajima; S. Ueno; T. Tokutomi; M. Shigemori

1999-01-01

30

Long-term outcome of surgical management of adult Chiari I malformation.  

PubMed

Chiari I malformation continues to inspire controversy. Debate still exists about surgical options. The aim of this study is to evaluate the long-term outcome of posterior fossa decompression procedure (PFD) in the treatment of adult Chiari I malformation, focusing on some factors or technical aspects which might influence the outcome. Forty-six adult patients with Chiari I malformation operated by PFD are the subject of this study. The group included 21 males and 25 females, with mean age of 37.4 years. Patients were divided into two groups: group I (32 cases) with syringomyelia and group II (14 cases) without syringomyelia. Group I was further subdivided into three subgroups according to the surgical procedure adopted: group Ia (12 cases) operated by PFD only, group Ib (14 cases) operated by PFD with fourth ventricular shunt, and group Ic (six cases) operated by PFD and syringosubarachnoid shunt. All cases included in group II were operated by PFD only. In group I, symptoms improved in 14 cases (43.8 %) and stabilized in 18 cases (56.3 %), whereas in group II, symptoms resolved in ten cases (71.4 %) and improved in four cases (28.6 %). Postoperative magnetic resonance imaging showed that the syrinx was resolved in 21 cases (65.6 %), improved in seven cases (21.9 %), and unchanged in four cases (12.5 %). Among the mean follow-up period (5.8 years), recurrence of symptoms occurred in five cases (10.9 %), all of them are included in group I, and were reoperated again. Posterior fossa decompression is recommended as the treatment of choice in adult Chiari I malformation with or without syringomyelia. The presence of syringomyelia predicts a less favorable response to surgical intervention. Syringosubarachnoid shunting did not improve the long-term outcome either clinically or radiologically. Implanting a fourth ventricular shunt in cases of syringomyelia associated with adhesions at the foramen of Magendie decreases the long-term incidence of recurrence significantly. For recurrent cases, re-exploration of the initial posterior fossa decompression is recommended before any consideration is given for direct management of the syrinx. PMID:22527628

El-Ghandour, Nasser M F

2012-10-01

31

Posterior Fossa Decompression without Duraplasty in Infants and Young Children for Treatment of Chiari Malformation and Achondroplasia  

Microsoft Academic Search

Some children with Chiari malformation and achondroplasia require posterior fossa decompression that typically includes expansion of the dural tube with duraplasty. Infants and young children, however, may have a more distensible dura mater than do older patients. Furthermore, the structures that compress the hindbrain of young patients may be the bone and abnormally thickened atlantooccipital membrane, i.e., dural band, rather

Kent D. Yundt; T. S. Park; Vrijesh S. Tantuwaya; Bruce A. Kaufman

1996-01-01

32

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

PubMed Central

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

Williams, Helen

2008-01-01

33

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

PubMed Central

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

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

2014-01-01

34

Section of the filum terminale: is it worthwhile in Chiari type I malformation?  

PubMed

A section of the filum terminale (SFT) is used for the surgical treatment of isolated tethered cord or that resulting from neurulation disorders. More recently, it has been proposed for the management of the occult tethered cord syndrome (OTCS), though it is still under debate. Even more controversial appears to be the use of SFT in patients with Chiari type I malformation (CIM), which is based on the possible presence of OTCS. This review shows that: (1) there are issues both in favor and against the occurrence of OTCS, (2) there is no significant correlation between CIM and tethered cord, the old "caudal traction theory" being not supported by clinical or experimental evidences. On these grounds, a relationship between CIM and OTCS is hard to be demonstrated, (3) a subgroup of patients with CIM suffering from OTCS may exist and benefit from SFT. PMID:21800080

Massimi, Luca; Peraio, Simone; Peppucci, Elisabetta; Tamburrini, Gianpiero; Di Rocco, Concezio

2011-12-01

35

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome  

PubMed Central

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

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

2014-01-01

36

Sudden unexpected death due to Chiari type I malformation in a road accident case.  

PubMed

This case concerns a sudden death of a patient with Chiari I malformation. A 17-year-old female was seen unconscious then fell off a motorbike during the vehicle acceleration. The girl was confirmed dead on the way to hospital, being previously asymptomatic and with a clean medical record. Autopsy findings showed an extremely extra-long cerebellar tonsillar herniation in the left side and unexplained multiple small cavities in cerebral hemispheres. Microscopic findings revealed loss and abnormal migration of the Purkinje cells, as well as capillary congestion in the herniated tonsil. The cause and mechanisms of this sudden death are considered as the cardiopulmonary dysfunction and arrest resulted from compression of the medulla and cervical cord, which was induced by both the positional insult and minor head trauma. In addition, this study stresses the importance of cervical cord examination in the case of unexpected sudden death following road accidents. PMID:23278920

Zhang, Jianhua; Shao, Yu; Qin, Zhiqiang; Liu, Ningguo; Zou, Donghua; Huang, Ping; Chen, Yijiu

2013-03-01

37

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

PubMed Central

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

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

2013-01-01

38

Chiari Malformation  

MedlinePLUS

... change for some individuals depending on buildup of CNS and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude ...

39

Histological and biomechanical study of dura mater applied to the technique of dura splitting decompression in Chiari type I malformation  

Microsoft Academic Search

Many techniques are described to treat Chiari type I malformation. One of them is a splitting of the dura, removing its outer\\u000a layer only to reduce the risks of cerebrospinal fluid (CSF) leak. We try to show the effectiveness of this technique from\\u000a histological and biomechanical observations of dura mater. Study was performed on 25 posterior fossa dura mater specimens

Dorian Chauvet; Alexandre Carpentier; Jean-Marc Allain; Marc Polivka; Jérôme Crépin; Bernard George

2010-01-01

40

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

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

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

1998-01-01

41

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

PubMed Central

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

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

2008-01-01

42

Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics  

PubMed Central

Background Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar herniation, it is hypothesized that this heterogeneous disorder is due to multiple genetic and environmental factors. The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population. Methods A collection of forty-four pediatric CMI patients were ascertained to identify disease subtypes using whole genome expression profiles generated from patient blood and dura mater tissue samples, and radiological data consisting of posterior fossa (PF) morphometrics. Sparse k-means clustering and an extension to accommodate multiple data sources were used to cluster patients into more homogeneous groups using biological and radiological data both individually and collectively. Results All clustering analyses resulted in the significant identification of patient classes, with the pure biological classes derived from patient blood and dura mater samples demonstrating the strongest evidence. Those patient classes were further characterized by identifying enriched biological pathways, as well as correlated cranial base morphological and clinical traits. Conclusions Our results implicate several strong biological candidates warranting further investigation from the dura expression analysis and also identified a blood gene expression profile corresponding to a global down-regulation in protein synthesis. PMID:24962150

2014-01-01

43

Cerebrospinal fluid flow impedance is elevated in Type I Chiari malformation.  

PubMed

Diagnosis of Type I Chiari malformation (CMI) is difficult because the most commonly used diagnostic criterion, cerebellar tonsillar herniation (CTH) greater than 3-5?mm past the foramen magnum, has been found to have little correlation with patient symptom severity. Thus, there is a need to identify new objective measurement(s) to help quantify CMI severity. This study investigated longitudinal impedance (LI) as a parameter to assess CMI in terms of impedance to cerebrospinal fluid motion near the craniovertebral junction. LI was assessed in CMI patients (N?=?15) and age-matched healthy controls (N?=?8) using computational fluid dynamics based on subject-specific magnetic resonance imaging (MRI) measurements of the cervical spinal subarachnoid space. In addition, CTH was measured for each subject. Mean LI in the CMI group (551?±?66?dyn/cm5) was significantly higher than in controls (220?±?17?dyn/cm5, p < 0.001). Mean CTH in the CMI group was 9.0?±?1.1?mm compared to -0.4?±?0.5?mm in controls. Regression analysis of LI versus CTH found a weak relationship (R2?=?0.46, p < 0.001), demonstrating that CTH was not a good indicator of the impedance to CSF motion caused by cerebellar herniation. These results showed that CSF flow impedance was elevated in CMI patients and that LI provides different information than a standard CTH measurement. Further research is necessary to determine if LI can be useful in CMI patient diagnosis. PMID:24362680

Shaffer, Nicholas; Martin, Bryn A; Rocque, Brandon; Madura, Casey; Wieben, Oliver; Iskandar, Bermans J; Dombrowski, Stephen; Luciano, Mark; Oshinski, John N; Loth, Francis

2014-02-01

44

Dura splitting decompression in Chiari type 1 malformation: clinical experience and radiological findings.  

PubMed

To restore the cerebrospinal fluid (CSF) flow at the craniocervical junction in Chiari I malformation (CM-I), most surgeons practice a suboccipital craniectomy with duraplasty. To reduce the risk of CSF leak, a dura splitting decompression is created removing only the dural outer layer. We report on a series of 11 patients with CM-I (five with syringomyelia) operated on between 2000 and 2007 using this technique. Neurological examination and cerebro-spinal MRI scan were performed before and after surgery. Symptoms improved completely in six patients. Headaches and cervicalgias disappeared for all patients. Dizziness and paresthesia in the upper limb remained unchanged for three and two patients, respectively. We observed no complications such as CSF leak, meningocele, or meningitis. Postoperative MRI scan showed a significant craniocervical decompression in ten patients. Four patients had a new cisterna magna. Two syringomyelias completely disappeared, two decreased, and one was stable. Dural splitting can be practiced to treat CM-I. Clinical results are similar to the other techniques with less complications. Radiological findings show satisfying posterior fossa decompression. PMID:19644715

Chauvet, Dorian; Carpentier, Alexandre; George, Bernard

2009-10-01

45

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

PubMed Central

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

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

2011-01-01

46

The neurophysiological balance in Chiari type 1 malformation (CM1), tethered cord and related syndromes.  

PubMed

The Chiari malformation (CM) is a syndrome embodied in heterogeneous groups of malformations, spanning from the more benign and known, the CM1, to more complex syndromes such as the rare association with the tethered cord, as spinal lipomas, and the CM2, associated to open spina bifida. The clinical picture may be well expressed and detected at birth or even during intrauterine life, as for CM2, but in the other cases they may run a rather subtle clinical course. The diagnosis of these syndromes is driven by clinical examination and MRI, and it usually requires a multidisciplinary approach in order to plan the therapeutic strategies, such as surgery. Among the diagnostic investigations, the imaging techniques represent the most useful, for their capabilities to detect subclinical lesions, such as syringomyielia and lipoma; the urological investigation is useful to evaluate the urogenital dysfunctions. The neurophysiological investigations represent a non invasive diagnostic procedure to investigate the peripheral nerve, the spinal cord, the brainstem functionalities and more higher brain functions; the nerve conduction studies and the cranial reflexes, the brainstem (BAEP) and the somatosensory (SEPs) evoked potentials (EPs), alone or in combination, can be used for the diagnosis, follow-up and intraoperative monitoring. The most useful diagnostic tools in CM1 are likely represented by the brainstem auditory evoked potentials (BAEPs) and the blink-reflex (BR), while the usefulness of SEPs is still doubtful and debated; in CM2 and tethered cord the neurophysiological techniques can be combined in different ways in order to make a functional balance and to answer specific questions. BAEPs and BR can be useful to investigate the brain stem functionality and SEP to evaluate whether the ascending sensory pathway to the cortex can be hampered at some level; the visual EPs are particularly useful to evaluate the integrity of posterior visual pathway and visual cortex in the case of associated hydrocephalus. In the tethered cord, both nerve conduction study and somatosensory evoked potentials (SEPs) are useful to evaluate motor and sensory dysfunction of the lombosacral roots and nerves and spinal cord for their capability to detect subclinical impairment of conduction along the sensory and motor pathway. Finally, last but not the least, the neurophysiological techniques are remarkably useful during surgery; the intraoperative monitoring (IOM) by means of electromyography and direct nerve stimulation and recordings are able to detect early nerve damage, minimize nerve lesions and optimise the surgical techniques. In the operated children with incomplete removal of lipoma and/or persistent tethering, the recordings of SEP and BAEP are useful to demonstrate a conduction deterioration along the ascending sensory pathway due to increasing tethering of the spinal cord due to somatic growth. PMID:22012627

Vidmer, Scaioli; Sergio, Curzi; Veronica, Saletti; Flavia, Tripaldi; Silvia, Esposito; Sara, Bulgheroni; Valentini, Laura Grazia; Daria, Riva; Solero, Carlo Lazzaro

2011-12-01

47

Outcome methods used in clinical studies of Chiari malformation Type I: a systematic review.  

PubMed

OBJECT Chiari malformation Type I (CM-I) is a common and often debilitating neurological disease. Efforts to improve treatment of CM-I are impeded by inconsistent and limited methods of evaluating clinical outcomes. To understand current approaches and lay a foundation for future research, the authors conducted a systematic review of the methods used in original published research articles to evaluate clinical outcomes in patients treated for CM-I. METHODS The authors searched PubMed, Embase, the Cumulative Index to Nursing and Allied Health Literature, ClinicalTrials.gov , and Cochrane databases to identify publications between January 2003 and August 2013 that met the following criteria: 1) reported clinical outcomes in patients treated for CM-I; 2) were original research articles; 3) included at least 10 patients or, if a comparative study, at least 5 patients per group; and 4) were restricted to patients with CM-I. RESULTS Among the 74 papers meeting inclusion criteria, there was wide variation in the outcome methods used. However, all approaches were broadly grouped into 3 categories: 1) "gestalt" impression of overall symptomatic improvement (n = 45 papers); 2) postoperative change in specific signs or symptoms (n = 20); or 3) results of various standardized assessment scales (n = 22). Among standardized scales, 11 general function measures were used, compared with 6 disease-specific tools. Only 3 papers used scales validated in patients with CM-I. To facilitate a uniform comparison of these heterogeneous approaches, the authors appraised articles in multiple domains defined a priori as integral to reporting clinical outcomes in CM-I. Notably, only 7 articles incorporated patient-response instruments when reporting outcome, and only 22 articles explicitly assessed quality of life. CONCLUSIONS The methods used to evaluate clinical outcomes in CM-I are inconsistent and frequently not comparable, complicating efforts to analyze results across studies. Development, validation, and incorporation of a small number of disease-specific patient-based instruments will improve the quality of research and care of CM-I patients. PMID:25380104

Greenberg, Jacob K; Milner, Eric; Yarbrough, Chester K; Lipsey, Kim; Piccirillo, Jay F; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

2014-11-01

48

Syringomyelia Associated with Type I Chiari Malformation A 21Year Retrospective Study on 75 Cases Treated by Foramen Magnum Decompression with a Special Emphasis on the Value of Tonsils Resection  

Microsoft Academic Search

Summary  ?The purpose of the present study is to evaluate retrospectively the effects of several intra-operative manipulations on the\\u000a results of foramen magnum decompression (FMD) in patients having syringomyelia associated with type I Chiari malformation.\\u000a Seventy-five patients having syringomyelia associated with Chiari I malformation were operated on between 1975 and 1996. This\\u000a population was grouped into 4 subgroups according to the

J. Guyotat; P. Bret; E. Jouanneau; A.-C. Ricci; C. Lapras

1998-01-01

49

Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.  

PubMed

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

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

50

Chiari 1 Malformation Presenting as Central Sleep Apnea during Pregnancy: A Case Report, Treatment Considerations, and Review of the Literature  

PubMed Central

Purpose: Chiari malformation (CM) type-1 frequently causes obstructive or central sleep-disordered breathing (SDB) in both adults and children, although SDB is relatively rare as a presenting manifestation in the absence of other neurological symptoms. The definitive treatment of symptomatic CM is surgical decompression. We report a case that is, to our knowledge, a novel manifestation of central sleep apnea (CSA) due to CM type-1 with severe exacerbation and initial clinical presentation during pregnancy. Methods: Case report from tertiary care comprehensive sleep medicine center with literature review of SDB manifestations associated with CM type-1. PubMed search was conducted between January 1982 and October 2013. Results: We report a 25-year-old woman with severe CSA initially presenting during her first pregnancy that eventually proved to be caused by CM type-1. The patient was successfully treated preoperatively by adaptive servoventilation (ASV), with effective resolution of SDB following surgical decompression, and without recurrence in a subsequent pregnancy. Our literature review found that 58% of CM patients with SDB had OSA alone, 28% had CSA alone, 8 (10%) had mixed OSA/CSA, and 6 (8%) had hypoventilation. Of CM patients presenting with SDB, 50% had OSA, 42% had CSA, 8% had mixed OSA/CSA, and 10.4% had hypoventilation. We speculate that CSA may develop in CM patients in whom brainstem compression results in excessive central chemoreflex sensitivity with consequent hypocapnic CSA. Conclusion: Chiari malformation type-1 may present with a diversity of SDB manifestations, and timely recognition and surgical referral are necessary to prevent further neurological deficits. ASV therapy can effectively manage CSA caused by CM type-1, which may initially present during pregnancy. PMID:25386156

St. Louis, Erik K.; Jinnur, Praveen; McCarter, Stuart J.; Duwell, Ethan J.; Benarroch, Eduardo E.; Kantarci, Kejal; Pichelmann, Mark A.; Silber, Michael H.; Boeve, Bradley F.; Olson, Eric J.; Morgenthaler, Timothy I.; Somers, Virend K.

2014-01-01

51

Histological and biomechanical study of dura mater applied to the technique of dura splitting decompression in Chiari type I malformation.  

PubMed

Many techniques are described to treat Chiari type I malformation. One of them is a splitting of the dura, removing its outer layer only to reduce the risks of cerebrospinal fluid (CSF) leak. We try to show the effectiveness of this technique from histological and biomechanical observations of dura mater. Study was performed on 25 posterior fossa dura mater specimens from fresh human cadavers. Dural composition and architecture was assessed on 47 transversal and sagittal sections. Uniaxial mechanical tests were performed on 22 dural samples (15 entire, 7 split) to focus on the dural macroscopic mechanical behavior comparing entire and split samples and also to understand deformation mechanisms. We finally created a model of volume expansion after splitting. Dura mater was composed of predominant collagen fibers with a few elastin fibers, cranio-caudally orientated. The classical description of two distinct layers remained inconstant. Biomechanical tests showed a significant difference between entire dura, which presents an elastic fragile behavior, with a small domain where deformation is reversible with stress, and split dura, which presents an elasto-plastic behavior with a large domain of permanent strain and a lower stress level. From these experimental results, the model showed a volume increase of approximately 50% below the split area. We demonstrated the capability of the split dura mater to enlarge for suitable stress conditions and we quantified it by biomechanical tests and experimental model. Thus, dural splitting decompression seems to have a real biomechanical substrate to envision the efficacy of this Chiari type I malformation surgical technique. PMID:20440557

Chauvet, Dorian; Carpentier, Alexandre; Allain, Jean-Marc; Polivka, Marc; Crépin, Jérôme; George, Bernard

2010-07-01

52

Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature  

PubMed Central

Introduction Cystic fibrosis, an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene, is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge, our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation, in this case in a 10-month-old, full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay, macrocephaly, bulging anterior fontanel, and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle, obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development; alternatively, this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis. PMID:21838874

2011-01-01

53

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

PubMed Central

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

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

2013-01-01

54

Hydrodynamic and Longitudinal Impedance Analysis of Cerebrospinal Fluid Dynamics at the Craniovertebral Junction in Type I Chiari Malformation  

PubMed Central

Elevated or reduced velocity of cerebrospinal fluid (CSF) at the craniovertebral junction (CVJ) has been associated with type I Chiari malformation (CMI). Thus, quantification of hydrodynamic parameters that describe the CSF dynamics could help assess disease severity and surgical outcome. In this study, we describe the methodology to quantify CSF hydrodynamic parameters near the CVJ and upper cervical spine utilizing subject-specific computational fluid dynamics (CFD) simulations based on in vivo MRI measurements of flow and geometry. Hydrodynamic parameters were computed for a healthy subject and two CMI patients both pre- and post-decompression surgery to determine the differences between cases. For the first time, we present the methods to quantify longitudinal impedance (LI) to CSF motion, a subject-specific hydrodynamic parameter that may have value to help quantify the CSF flow blockage severity in CMI. In addition, the following hydrodynamic parameters were quantified for each case: maximum velocity in systole and diastole, Reynolds and Womersley number, and peak pressure drop during the CSF cardiac flow cycle. The following geometric parameters were quantified: cross-sectional area and hydraulic diameter of the spinal subarachnoid space (SAS). The mean values of the geometric parameters increased post-surgically for the CMI models, but remained smaller than the healthy volunteer. All hydrodynamic parameters, except pressure drop, decreased post-surgically for the CMI patients, but remained greater than in the healthy case. Peak pressure drop alterations were mixed. To our knowledge this study represents the first subject-specific CFD simulation of CMI decompression surgery and quantification of LI in the CSF space. Further study in a larger patient and control group is needed to determine if the presented geometric and/or hydrodynamic parameters are helpful for surgical planning. PMID:24130704

Martin, Bryn A.; Kalata, Wojciech; Shaffer, Nicholas; Fischer, Paul; Luciano, Mark; Loth, Francis

2013-01-01

55

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

PubMed Central

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

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

56

American Syringomyelia & Chiari Alliance Project  

MedlinePLUS

Patients, Family & Friends: For those living with Chiari malformation and syringomyelia — and the families and friends who support them — information and support are vital in understanding the conditions and making the ...

57

Pediatric and adult Chiari malformation Type I surgical series 1965-2013: a review of demographics, operative treatment, and outcomes.  

PubMed

OBJECT Chiari malformation Type I (CM-I) is a hindbrain disorder associated with elongation of the cerebellar tonsils, which descend below the foramen magnum into the spinal canal. It occurs in children and adults. Clinical symptoms mainly develop from alterations in CSF flow at the foramen magnum and the common subsequent development of syringomyelia. METHODS The authors reviewed English-language reports of pediatric, adult, and combined (adult and pediatric) surgical series of patients with CM-I published from 1965 through August 31, 2013, to investigate the following: 1) geographical distribution of reports; 2) demographics of patients; 3) follow-up lengths; 4) study durations; 5) spectrum and frequency of surgical techniques; 6) outcomes for neurological status, syrinx, and headache; 7) frequency and scope of complications; 8) mortality rates; and 9) differences between pediatric and adult populations. Research and inclusion criteria were defined, and all series that contained at least 4 cases and all publications with sufficient data for analysis were included. RESULTS The authors identified 145 operative series of patients with CM-I, primarily from the United States and Europe, and divided patient ages into 1 of 3 categories: adult (> 18 years of age; 27% of the cases), pediatric (? 18 years of age; 30%), or unknown (43%). Most series (76%) were published in the previous 21 years. The median number of patients in the series was 31. The mean duration of the studies was 10 years, and the mean follow-up time was 43 months. The peak ages of presentation in the pediatric studies were 8 years, followed by 9 years, and in the adult series, 41 years, followed by 46 years. The incidence of syringomyelia was 65%. Most of the studies (99%) reported the use of posterior fossa/foramen magnum decompression. In 92%, the dura was opened, and in 65% of these cases, the arachnoid was opened and dissected; tonsillar resection was performed in 27% of these patients. Postoperatively, syringomyelia improved or resolved in 78% of the patients. Most series (80%) reported postoperative neurological outcomes as follows: 75% improved, 17% showed no change, and 9% experienced worsening. Postoperative headaches improved or resolved in 81% of the patients, with a statistical difference in favor of the pediatric series. Postoperative complications were reported for 41% of the series, most commonly with CSF leak, pseudomeningocele, aseptic meningitis, wound infection, meningitis, and neurological deficit, with a mean complication rate of 4.5%. Complications were reported for 37% of pediatric, 20% of adult, and 43% of combined series. Mortality was reported for 11% of the series. No difference in mortality rates was seen between the pediatric and adult series. CONCLUSIONS Before undergoing surgical treatment for CM-I, symptomatic patients and their families should be given clear information about the success of treatment and potential complications. Furthermore, surgeons may benefit from comparing published data with their own. In the future, operative CM-I reports should provide all details of each case for the purpose of comparison. PMID:25479580

Arnautovic, Aska; Splavski, Bruno; Boop, Frederick A; Arnautovic, Kenan I

2014-12-01

58

Is atlantoaxial instability the cause of Chiari malformation? Outcome analysis of 65 patients treated by atlantoaxial fixation.  

PubMed

OBJECT Understanding that atlantoaxial instability is the cause of Chiari malformation (CM), the author treated 65 patients using atlantoaxial stabilization. The results are analyzed. METHODS Cases of CM treated using atlantoaxial fixation during the period from January 2010 to November 2013 were reviewed and analyzed. Surgery was aimed at segmental arthrodesis. RESULTS The author treated 65 patients with CM in the defined study period. Fifty-five patients had associated syringomyelia. Forty-six patients had associated basilar invagination. Thirty-seven patients had both basilar invagination and syringomyelia. Three patients had been treated earlier using foramen magnum decompression and duraplasty. According to the extent of their functional capabilities, patients were divided into 5 clinical grades. On the basis of the type of facetal alignment and atlantoaxial instability, the patients were divided into 3 groups. Type I dislocation (17 patients) was anterior atlantoaxial instability wherein the facet of the atlas was dislocated anterior to the facet of the axis. Type II dislocation (31 patients) was posterior atlantoaxial instability wherein the facet of the atlas was dislocated posterior to the facet of the axis. Type III dislocation (17 patients) was the absence of demonstrable facetal malalignment and was labeled as "central" atlantoaxial dislocation. In 18 patients, dynamic images showed vertical, mobile and at-least partially reducible atlantoaxial dislocation. All patients were treated with atlantoaxial plate and screw fixation using techniques described in 1994 and 2004. Foramen magnum decompression or syrinx manipulation was not performed in any patient. Occipital bone and subaxial spinal elements were not included in the fixation construct. One patient died, and death occurred in the immediate postoperative phase and was related to a vertebral artery injury incurred during the operation. One patient had persistent symptoms. In the rest of the patients there was gratifying clinical improvement. More remarkably, in 7 patients, the symptoms of lower cranial nerve paresis improved. No patient worsened in their neurological function after surgery. Reductions in the size of the syrinx and regression of the CM were observed in 6 of 11 cases in which postoperative MRI was possible. During the follow-up period, there was no delayed worsening of neurological function or symptoms in any patient. Sixty-three patients improved after surgery, and the improvement was sustained during the average follow-up period of 18 months. CONCLUSIONS On the basis of outcomes in this study, it appears that the pathogenesis of CM with or without associated basilar invagination and/or syringomyelia is primarily related to atlantoaxial instability. The data suggest that the surgical treatment in these cases should be directed toward atlantoaxial stabilization and segmental arthrodesis. Except in cases in which there is assimilation of the atlas, inclusion of the occipital bone is neither indicated nor provides optimum stability. Foramen magnum decompression is not necessary and may be counter-effective in the long run. PMID:25415487

Goel, Atul

2014-11-21

59

Chiari Malformation: Symptoms  

MedlinePLUS

... memory, judgment, and reasoning 10 © 2012 C&S Patient Education Foundation, ® This presentation is for informational purposes, consult a qualified professional for medical advice. Emotional Issues Feelings of depression or anxiety should be ...

60

Chiari Malformation: Treatment  

MedlinePLUS

... professional for medical advice. 13 Recovery Surgical Complications Success of Decompression Other Diseases Duration of Symptoms Lifestyle Mental Attitude Factors that can affect recovery Patient should discuss in ...

61

Chiari Malformation: Diagnosis  

MedlinePLUS

... qualified professional for medical Neurological Exam cont. 6 Reflexes Testing the deep tendon reflexes, the doctor uses ... Normal Hypoactive (less than normal) No reflex Description Reflex Grading Scale Motor Function Evaluation of motor function ...

62

The Comparative Morphometric Study of the Posterior Cranial Fossa : What Is Effective Approaches to the Treatment of Chiari Malformation Type 1?  

PubMed Central

Objective The objective of this study was to investigate changes in the posterior cranial fossa in patients with symptomatic Chiari malformation type I (CMI) compared to a control group. Methods We retrospectively reviewed clinical and radiological data from 12 symptomatic patients with CMI and 24 healthy control subjects. The structures of the brain and skull base were investigated using magnetic resonance imaging. Results The length of the clivus had significantly decreased in the CMI group than in the control group (p=0.000). The angle between the clivus and the McRae line (p<0.024), as the angle between the supraocciput and the McRae line (p<0.021), and the angle between the tentorium and a line connecting the internal occipital protuberance to the opisthion (p<0.009) were significantly larger in the CMI group than in the control group. The mean vertical length of the cerebellar hemisphere (p<0.003) and the mean length of the coronal and sagittal superoinferior aspects of the cerebellum (p<0.05) were longer in the CMI group than in the control group, while the mean length of the axial anteroposterior aspect of the cerebellum (p<0.001) was significantly shorter in the CMI group relative to control subjects. Conclusion We elucidate the transformation of the posterior cranial fossa into the narrow funnel shape. The sufficient cephalocaudal extension of the craniectomy of the posterior cranial fossa has more decompression effect than other type extension of the craniectomy in CMI patients. PMID:24379947

Hwang, Hyung Sik; Moon, Jae Gon; Kim, Chang Hyun; Oh, Sae-Moon; Song, Joon-Ho

2013-01-01

63

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

PubMed Central

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

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

2013-01-01

64

Cranial malformations in related white lions (Panthera leo krugeri).  

PubMed

White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844

Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E

2010-11-01

65

Evaluating the relationship of the pB-C2 line to clinical outcomes in a 15-year single-center cohort of pediatric Chiari I malformation.  

PubMed

OBJECT The clinical significance of radiological measurements of the craniocervical junction in pediatric Chiari I malformation (CM-I) is yet to be fully established across the field. The authors examined their institutional experience with the pB-C2 line (drawn perpendicular to a line drawn between the basion and the posterior aspect of the C-2 vertebral body, at the most posterior extent of the odontoid process at the dural interface). The pB-C2 line is a measure of ventral canal encroachment, and its relationship with symptomatology and syringomyelia in pediatric CM-I was assessed. METHODS The authors performed a retrospective review of 119 patients at the Monroe Carell Jr. Children's Hospital at Vanderbilt University who underwent posterior fossa decompression with duraplasty, 78 of whom had imaging for review. A neuroradiologist retrospectively evaluated preoperative and postoperative MRI examinations performed in these 78 patients, measuring the pB-C2 line length and documenting syringomyelia. The pB-C2 line length was divided into Grade 0 (< 3 mm) and Grade I (? 3 mm). Statistical analysis was performed using the t-test for continuous variables and Fisher's exact test analysis for categorical variables. Multivariate logistic and linear regression analyses were performed to assess the relationship between pB-C2 line grade and clinical variables found significant on univariate analysis, controlling for age and sex. RESULTS The mean patient age was 8.5 years, and the mean follow-up duration was 2.4 years. The mean pB-C2 line length was 3.5 mm (SD 2 mm), ranging from 0 to 10 mm. Overall, 65.4% of patients had a Grade I pB-C2 line. Patients with Grade I pB-C2 lines were 51% more likely to have a syrinx than those with Grade 0 pB-C2 lines (RR 1.513 [95% CI 1.024-2.90], p = 0.021) and, when present, had greater syrinx reduction (3.6 mm vs 0.2 mm, p = 0.002). Although there was no preoperative difference in headache incidence, postoperatively patients with Grade I pB-C2 lines were 69% more likely to have headache reduction than those with Grade 0 pB-C2 lines (RR 1.686 [95% CI 1.035-2.747], p = 0.009). After controlling for age and sex, pB-C2 line grade remained an independent correlate of headache improvement and syrinx reduction. CONCLUSIONS Ventral canal encroachment may explain the symptomatology of select patients with CM-I. The clinical findings presented suggest that patients with Grade I pB-C lines2, with increased ventral canal obstruction, may experience a higher likelihood of syrinx reduction and headache resolution from decompressive surgery with duraplasty than those with Grade 0 pB-C2 lines. PMID:25479579

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

2015-02-01

66

The upper airway: congenital malformations.  

PubMed

The upper airway extends from the nasal aperture to the subglottis and can be the site of multiple types of congenital malformations leading to anatomical or functional obstruction. This can cause severe respiratory distress. Newborns are obligate nasal breathers; therefore nasal obstruction can lead to airway compromise and respiratory distress. The etiologies are varied and include, choanal atresia, pyriform aperture stenosis, and rarely tumors such as glioma, encephalocele, teratoma, or dermoid. More common upper airway congenital anomalies include laryngomalacia, vocal cord paralysis, and subglottic stenosis. Laryngolmalacia is the most common congenital laryngeal anomaly. Inspiratory stridor often does not present until two weeks after birth and resolves by 18 months of age. Most cases are managed with watchful waiting. Severe cases require a surgical intervention. Bilateral vocal cord paralysis is usually idiopathic. In certain cases, paralysis may occur secondary to central nervous system abnormality including Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, or hypoxia. Severe cases may necessitate endotracheal intubation and tracheostomy. Congenital subglottic stenosis is the third most common laryngeal anomaly. It is defined as a diameter of less than 4mm of the cricoid region in a full-term infant, and less than 3mm in a premature infant. This condition is the most common laryngeal anomaly that requires tracheotomy in newborns. Laryngotracheoplasty may be required to achieve decanulation. Knowledge of the upper airway embryological development and congenital anomalies is off prime importance in assessing the newborn with respiratory distress. In most cases flexible endoscopy establishes the diagnosis. Management is tailored to each condition and its degree of severity. PMID:16798587

Daniel, Samuel J

2006-01-01

67

Spinal cord malformations.  

PubMed

Malformations of the spinal cord are one of the most frequent malformations. They should be clearly divided into two completely different families of malformations: open dysraphisms and occult dysraphisms. Open dysraphism mostly consists in myelomeningocele (MMC). Its incidence is 1/1000 live births with a wide variation. Folic acid supplementation has been shown to reduce its risk. In most cases, the diagnosis is done prenatally by serum screening and ultrasound and may lead to termination of pregnancy. In case of decision to continue pregnancy, surgical treatment must be achieved during the first days of life, and in 50 to 90% of cases, a ventricular shunt must be installed. The follow-up of these children must be continued throughout life looking for late complications (Chiari II and syringomyelia, vertebral problems, neuropathic bladder, tethered cord). Occult dysraphisms are a heterogeneous group of malformations. Lipomas (filum and conus) are the most frequent and their treatment remains controversial. Diastematomyelia, neurenteric cysts, dermal sinus, and more complex forms (Currarino syndrome) belong to this group. Most of them can and must be diagnosed prenatally or at birth by careful examination of the lower back for the cutaneous stigmata of the disease to decrease the risk of neurological, urological, or orthopedic permanent handicap. PMID:23622306

Zerah, Michel; Kulkarni, Abhaya V

2013-01-01

68

Amphibian malformations  

USGS Publications Warehouse

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.

National Wildlife Health Center

1998-01-01

69

Arnold Hague's Saddle  

USGS Multimedia Gallery

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

2009-07-22

70

Intraoperative aneurysmal subarachnoid hemorrhage after rupture of a previously undiagnosed intracranial aneurysm during Chiari decompression.  

PubMed

A type I Chiari malformation occurs when caudal displacement of the cerebellar tonsils below the level of the foramen magnum obstructs the normal flow of cerebrospinal fluid (CSF) between the cranial and spinal spaces, a condition that often needs surgical decompression to restore normal CSF circulation. Abrupt changes in CSF flow dynamics after Chiari decompression can affect the intracranial CSF dynamics to the extent that a previously undiagnosed intracranial aneurysm remote from the site can rupture. The authors describe the development of an intraoperative aneurysmal subarachnoid hemorrhage that occurred as a result of spontaneous rupture of a previously undiagnosed right distal posterior inferior cerebellar artery in a 57-year-old woman with type I Chiari malformation who was undergoing surgical decompression. The mechanism of the aneurysmal rupture appears to be related to the changes of CSF flow dynamics during surgical decompression. Normally, pressure equilibrium between the two sides of the aneurysmal wall prevents its rupture, but factors that significantly affect this equilibrium, such as systemic hypertension, can cause the aneurysm to rupture. To our knowledge, the concept of spontaneous intraoperative rupture of intracranial aneurysm remote from the site of surgery has been described twice previously but under different scenarios. This scenario, to our knowledge, has not been previously described. PMID:24113160

Sorour, Mohammad; Bowers, Christian A; Couldwell, William T

2014-03-01

71

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

PubMed Central

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

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

2013-01-01

72

C1-C2 arthrodesis after transoral odontoidectomy and suboccipital craniectomy for ventral brain stem compression in Chiari I patients.  

PubMed

Chiari I malformations are often associated with congenital craniocervical anomalies such as platybasia, basilar invagination, and retroflexion of the odontoid process. Management of ventral brain stem compression associated with Chiari I malformations remains controversial, but several authors report a significant rate of failure with suboccipital decompression alone in the presence of pronounced ventral brain stem compression (VBSC). Treatment options described in the literature for these patients involve anterior, posterior, or combined decompressions with or without concurrent arthrodesis. A combined anterior and posterior approach provides a definitive circumferential decompression but also significantly disrupts the stability of the occipitocervical junction usually necessitating occipitocervical fixation. We describe an alternative surgical treatment for Chiari I patients with significant ventral brain stem compression where a combined anterior and posterior decompression was considered necessary. We report two patients who underwent transoral odontoidectomy with preservation of the anterior arch of the atlas and suboccipital craniectomy with C1 laminectomy followed by C1-C2 arthrodesis. Preservation of the anterior arch of the atlas in conjunction with C1-C2 arthrodesis stabilizes the occipito-atlanto-axial segments while conserving more cervical mobility as compared to an occipitocervical fusion. PMID:18629549

Hwang, Steven W; Heilman, Carl B; Riesenburger, Ron I; Kryzanski, James

2008-09-01

73

C1–C2 arthrodesis after transoral odontoidectomy and suboccipital craniectomy for ventral brain stem compression in Chiari I patients  

PubMed Central

Chiari I malformations are often associated with congenital craniocervical anomalies such as platybasia, basilar invagination, and retroflexion of the odontoid process. Management of ventral brain stem compression associated with Chiari I malformations remains controversial, but several authors report a significant rate of failure with suboccipital decompression alone in the presence of pronounced ventral brain stem compression (VBSC). Treatment options described in the literature for these patients involve anterior, posterior, or combined decompressions with or without concurrent arthrodesis. A combined anterior and posterior approach provides a definitive circumferential decompression but also significantly disrupts the stability of the occipitocervical junction usually necessitating occipitocervical fixation. We describe an alternative surgical treatment for Chiari I patients with significant ventral brain stem compression where a combined anterior and posterior decompression was considered necessary. We report two patients who underwent transoral odontoidectomy with preservation of the anterior arch of the atlas and suboccipital craniectomy with C1 laminectomy followed by C1–C2 arthrodesis. Preservation of the anterior arch of the atlas in conjunction with C1–C2 arthrodesis stabilizes the occipito–atlanto-axial segments while conserving more cervical mobility as compared to an occipitocervical fusion. PMID:18629549

Heilman, Carl B.; Riesenburger, Ron I.; Kryzanski, James

2008-01-01

74

Arnold Hague's Chair  

USGS Multimedia Gallery

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

75

Arnold Schwarzenegger ANAEROBIC DIGESTER  

E-print Network

Arnold Schwarzenegger Governor ANAEROBIC DIGESTER IMPLEMENTATION ISSUES Phase II - A Survey who took concrete steps to install an anaerobic digestion (AD) facility and documentation motivated by being able to reduce odor and use the digested solids as animal bedding. Neither

76

Anorectal malformations  

Microsoft Academic Search

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,

Marc A Levitt; Alberto Peña

2007-01-01

77

Budd-Chiari syndrome in a patient of diabetic ketoacidosis  

PubMed Central

We report a rare case of Budd-Chiari syndrome developing in a patient undergoing treatment for diabetic ketoacidosis. A 27-year-old female presented with newly detected Type 1 diabetes with sepsis in ketoacidosis. During the process of treatment, she developed pain abdomen, ascites, and pedal edema. Investigations revealed an alteration of liver function and imaging characteristics of acute on chronic Budd–Chiari syndrome. All known etiological factors for Budd–Chiari syndrome were negative. Diabetic ketoacidosis, being a severely dehydrated state often associated with sepsis, may precipitate an acute presentation of previously asymptomatic Budd–Chiari syndrome. PMID:22701830

Dasgupta, Arundhati; Saikia, Uma Kaimal; Sharma, Dipti; Choudhury, Bikash

2012-01-01

78

A case of neck pain: The presentation of Chairi 1 malformations in children  

PubMed Central

Chiari 1 malformations (CIM) in children can develop into a debilitating disease, however, they usually present with apparently benign symptoms, such as moderate headache and neck pain. Early identification and treatment of this condition can lead to an overall decrease in morbidity and mortality associated with this disease. We are reporting on a child that initially presented with neck pain and no neurological findings. PMID:24550627

Haran, John P; Pezzella, Lina

2014-01-01

79

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiograph  

Microsoft Academic Search

The transverse diameter of the foramen occipitale magnum (f. o. m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation

J. A. Bliesener; L. R. Schmidt

1980-01-01

80

Anorectal malformations.  

PubMed

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

81

Anorectal malformations  

PubMed Central

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

82

Arnold Schwarzenegger ANAEROBIC DIGESTER  

E-print Network

Arnold Schwarzenegger Governor ANAEROBIC DIGESTER IMPLEMENTATION ISSUES Phase I - A Survey of U concrete steps to install an anaerobic digestion (AD) facility and documentation of the factors to reduce odor and use the digested solids as animal bedding. Neither of these factors was a motivator

83

Arteriovenous Malformations and Other Vascular Malformation Syndromes  

PubMed Central

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation–arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations. PMID:23125071

Whitehead, Kevin J.; Smith, Matthew C. P.; Li, Dean Y.

2013-01-01

84

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

85

Budd-Chiari syndrome and liver transplantation  

PubMed Central

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

Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

2015-01-01

86

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

Federal Register 2010, 2011, 2012, 2013

...Duane Arnold Energy Center, once...grants to NextEra Energy Duane Arnold...Duane Arnold Energy Center. Pursuant...a significant effect on the quality of the human environment [75 FR 13318...2010. For the Nuclear Regulatory...

2010-04-05

87

arnold school of public health arnold school of public health  

E-print Network

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

Almor, Amit

88

Arnold Schwarzenegger THE CENTRAL CALIFORNIA  

E-print Network

Arnold Schwarzenegger Governor THE CENTRAL CALIFORNIA OZONE STUDY APPENDIX C: CENTRAL CALIFORNIA OZONE STUDY VOLUME 3: SUMMARY OF FIELD OPERATIONS Prepared For: California Energy Commission Public Interest Energy Research Program Prepared By: California Air Resources Board PIERFINALPROJECTREPORT March

89

Arnold Schwarzenegger THE CENTRAL CALIFORNIA  

E-print Network

Arnold Schwarzenegger Governor THE CENTRAL CALIFORNIA OZONE STUDY APPENDIX B: CENTRAL CALIFORNIA OZONE STUDY VOLUME 2: FIELD OPERATIONS PLAN Prepared For: California Energy Commission Public Interest Energy Research Program Prepared By: California Air Resources Board PIERFINALPROJECTREPORT March 2007 CEC

90

Arnold Schwarzenegger THE CENTRAL CALIFORNIA  

E-print Network

Arnold Schwarzenegger Governor THE CENTRAL CALIFORNIA OZONE STUDY Prepared For: California Energy Commission Public Interest Energy Research Program Prepared By: California Air Resources Board Planning and Technical Support Division California Air Resources Board California Environmental Protection

91

Arnold Schwarzenegger THE CENTRAL CALIFORNIA  

E-print Network

Arnold Schwarzenegger Governor THE CENTRAL CALIFORNIA OZONE STUDY APPENDIX A: CENTRAL CALIFORNIA OZONE STUDY VOLUME 1: FIELD STUDY PLAN Prepared For: California Energy Commission Public Interest Energy Research Program Prepared By: California Air Resources Board PIERFINALPROJECTREPORT March 2007 CEC-500

92

Curriculum Vitae: ARNOLD W. SCHUMANN  

E-print Network

Societies and Journal Editorial Service: American Society of Horticultural Science: 2007 present Editorial: 1994 present. Florida State Horticultural Society: 2001 present American Society of Agronomy: 19941 Curriculum Vitae: ARNOLD W. SCHUMANN Associate Professor of Soil and Water Science, University

Jawitz, James W.

93

Arnold Schwarzenegger CALIFORNIA OCEAN WAVE  

E-print Network

Arnold Schwarzenegger Governor CALIFORNIA OCEAN WAVE ENERGY ASSESSMENT Prepared For: California this report as follows: Previsic, Mirko. 2006. California Ocean Wave Energy Assessment. California Energy Systems Integration · Transportation California Ocean Wave Energy Assessment is the final report

94

Arnold Schwarzenegger INTEGRATED FORECAST AND  

E-print Network

Arnold Schwarzenegger Governor INTEGRATED FORECAST AND RESERVOIR MANAGEMENT (INFORM) FOR NORTHERN Commission Energy-Related Environmental Research Joseph O' Hagan Contract Manager Joseph O' Hagan Project Manager Kelly Birkinshaw Program Area Manager ENERGY-RELATED ENVIRONMENTAL RESEARCH Martha Krebs, Ph

95

09-NIF Dedication: Arnold Schwarzenegger  

ScienceCinema

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

Governor Arnold Schwarzenegger

2010-09-01

96

Development projects: Secondary school, Arnold   

E-print Network

This BULLETIN describes a secondary school at Arnold, Nottinghamshire, designed by the Development Group of the Architects and Building Branch of the Ministry of Education in collaboration with the Local Education Authority. It was the sixth...

Anonymous

97

[Budd-Chiari syndrome illustrated by four case reports].  

PubMed

Budd-Chiari syndrome (BCS) represents obstruction of hepatic venous drainage. Patients with BCS must be managed individually, because the localisation of the obstruction, the cause, and natural history of the specific lesion differ between patients. We report four cases of Budd-Chiari syndrome where the first patient (who was protein C-deficient, took an oral contraceptive, and smoked) was successfully treated with transjugular intrahepatic portosystemic shunt (TIPS), the second patient (with polycythaemia vera) was treated with venesection and anticoagulation, the third patient underwent a successful liver transplantation. The last patient had a congenital vascular web and was treated by stenting. PMID:12107952

Grønbaek, Henning; Nielsen, Dennis Tønner; Astrup, Lone Bording

2002-06-17

98

MALFORMATIONS, MALFORMATIONS EVERYWHERE ... Prepared by Juan Swanepoel & Marieka Gryzenhout  

E-print Network

afflicted by malformation symptoms are commercial pistachio in Iran and the South African native tree karee. Malformations of pistachio are found to be caused by a phytoplasma, but the causal agent for karee is still to the same foe as its relatives mango and pistachio ­ malformations (Fig. 1a, b). #12;20 Fig. 1 Malformations

99

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

interest are those that estimate the value of resources at risk to wildland fire, the costs of fireArnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY the landscape level changes in wildfire, habitat, and other dynamics. The modification of terminology do

100

Arnold Schwarzenegger THE CENTRAL CALIFORNIA  

E-print Network

. It was coordinated with the California Regional PM2.5/PM10 Air Quality Study (CRPAQS) which sought to improve a coordinated air quality/meteorology field program extending from 1 December 1999 through 31 January 2001Arnold Schwarzenegger Governor THE CENTRAL CALIFORNIA OZONE STUDY APPENDIX D: METEOROLOGICAL

101

Treatment for Chiari 1 malformation (CIM): analysis of a pediatric surgical series.  

PubMed

Children may present a peculiar picture of CIM, as syncopes and acute paraparesis. In a series of 99 children operated for CIM at FINCB there were no major surgical morbidity nor mortality. The preoperative symptoms improved more in this pediatric series than in the adult cases treated at the same institution in the same period; a reason could be the shorter duration of symptoms and another the children plasticity. An untreated nonsyndromic craniosynostosis was present in 10 cases. In our hands, the results of the limited extradural decompression were poor. In some CIM associated with psychiatric symptoms an unexpected improvement was observed after tonsilar resection. The associated Syringomyelia reduced in more than 80% of children and disappeared in a significant number. The rare associated tethered cord (5%) needed a double treatment, detethering by itself being insufficient to treat also tonsillar descent. The clinical symptoms are often more serious in children than in the adults, but the results of surgery, especially on the syrinx, are better. PMID:21879328

Valentini, Laura; Visintini, Sergio; Saletti, Veronica; Chiapparini, Luisa; Estienne, Margherita; Solero, Carlo Lazzaro

2011-12-01

102

Posterior fossa malformations.  

PubMed

Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy-Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations. PMID:21596278

Shekdar, Karuna

2011-06-01

103

Congenital Hepatic Vascular Malformations  

Microsoft Academic Search

\\u000a Congenital hepatic vascular malformations are rare entities that result in abnormal shunting of blood through the liver. Three\\u000a different types of shunting can occur: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal\\u000a vein) and portovenous (portal vein to hepatic vein). Malformations result from alterations in the formation of blood vessels\\u000a during fetal development and can occur as

Guadalupe Garcia-Tsao

104

Fetal bronchopulmonary malformations.  

PubMed

Abstract Introduction: Fetal body tumors are rare, but the ability to diagnose them has improved over recent years. Most masses discovered in the chest results from fetal bronchopulmonary malformations, such as congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Congenital cystic adenomatoid malformation and bronchopulmonary sequestration have a reported incidence of 50% and 33% of all prenatally diagnosed lung lesions, respectively. Material and methods: Retrospective analysis of the congenital cystic adenomatoid malformation and bronchopulmonary sequestration cases diagnosed or surveilled at our department, between January 2003 and March 2013. Prenatal examination, evolution, management and patient outcome were analyzed. Results: A total of 918 fetal malformations were diagnosed at our hospital, 17 of them representing fetal bronchopulmonary malformations. The majority were diagnosed during the second trimester and stabilized or regressed during the third trimester of pregnancy. The pregnancies and deliveries had no other relevant findings or complications, except in three cases. Nine children required surgery. All of the children are healthy and have a normal development, with regular surveillance by the pediatricians. Discussion: The majority of these fetal lung masses are isolated findings that partially regress during intrauterine life. With adequate postnatal surveillance and eventual surgery the prognosis is good. PMID:25394612

Nunes, Carla; Pereira, Isabel; Araújo, Cláudia; Santo, Susana Ferreira; Carvalho, Rui Marques; Melo, Antonieta; Graça, Luís Mendes

2014-12-01

105

Cavernous malformations in pregnancy.  

PubMed

Cavernous malformation is a relatively rare disease, but is important in the etiology of cerebral hemorrhage in pregnant and puerperal women. The risk of bleeding is particularly high in patients with a previous history of bleeding, patients with a family history of cavernous malformations, and patients with the causative cerebral cavernous malformation gene. Cavernous malformations are more likely to bleed or to increase in size during pregnancy, under the influence of female hormones and vascular growth factors such as vascular endothelial growth factor. We report our strategy for the treatment of cavernous malformations in pregnant women, with reference to the relevant literature. Asymptomatic patients and those with mild symptoms are usually followed up conservatively by magnetic resonance imaging, without active treatment, but surgical treatment is indicated in patients with severe or progressive symptoms; surgery should also be considered in patients with mild symptoms having risk factors for bleeding. If surgical treatment is selected, the operation plan needs to be devised in collaboration with the specialties of anesthesiology and obstetrics and gynecology, rather than by the brain surgeon alone, in view of the possibility of occurrence of complications specific to pregnant women, such as complications related to weight gain and difficulty in securing the airway, which develop during the perioperative period. PMID:23979052

Yamada, Shuichi; Nakase, Hiroyuki; Nakagawa, Ichiro; Nishimura, Fumihiko; Motoyama, Yasushi; Park, Young-Su

2013-01-01

106

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.  

PubMed

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed. PMID:16716158

Vercellino, N; Nozza, P; Oddone, M; Bava, G L

2006-07-01

107

Arnold Hely and Australian Adult Education  

ERIC Educational Resources Information Center

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…

Morris, Roger

2011-01-01

108

Vascular malformations revisited.  

PubMed

Vascular malformations are congenital anomalies that can affect each part of the vasculature. Combined forms are common and they are often part of complex syndromes. Most malformations are diagnosed during infancy, but some get obvious only later in life. The field of vascular malformations is emerging with recently described new entities and treatments. Still, misdiagnosis is common in this field, leading to nosologic confusion and wrong treatment. Clinical evaluation and imaging are the gold standard for diagnostic confirmation. Sclerotherapy and embolization are the main treatment techniques but are also used preoperatively to reduce blood loss and shrink the lesion if surgery is planned. Despite new treatment options, especially if extensive in size or involving vulnerable structures, vascular malformations are still considered chronic diseases and cause significant morbidity. Common understanding and agreement on terminology and a multidisciplinary approach are the basis of successful treatment and long-term support for these patients. Continuing research in the field of vascular anomalies will improve knowledge and create further treatment options. PMID:25537054

Clemens, Robert K; Pfammatter, Thomas; Meier, Thomas O; Alomari, Ahmad I; Amann-Vesti, Beatrice R

2015-01-01

109

Arnold’s nerve cough reflex: evidence for chronic cough as a sensory vagal neuropathy  

PubMed Central

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

Gibson, Peter G.; Birring, Surinder S.

2014-01-01

110

Is Arnold diffusion relevant to global diffusion?  

E-print Network

Global diffusion of Hamiltonian dynamical systems is investigated by using a coupled standard maps. Arnold web is visualized in the frequency space, using local rotation numbers, while Arnold diffusion and resonance overlaps are distinguished by the residence time distributions at resonance layers. Global diffusion in the phase space is shown to be accelerated by diffusion across overlapped resonances generated by the coupling term, rather than Arnold diffusion along the lower-order resonances. The former plays roles of hubs for transport in the phase space, and accelerate the diffusion.

Seiichiro Honjo; Kunihiko Kaneko

2003-07-27

111

Research status of Budd-Chiari syndrome in China  

PubMed Central

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

Dang, Xiaowei; Li, Luhao; Xu, Peiqin

2014-01-01

112

Three-dimensional tori and Arnold tongues  

NASA Astrophysics Data System (ADS)

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.

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

2014-03-01

113

Arnold Schwarzenegger REAL-TIME GRID RELIABILITY  

E-print Network

Arnold Schwarzenegger Governor REAL-TIME GRID RELIABILITY MANAGEMENT California ISO Phasor Application Summary Report Prepared For: California Energy Commission Public Interest Energy Research Program Prepared By: Lawrence Berkeley National Laboratory Consortium for Electric Reliability Technology Solutions

114

Arnold Schwarzenegger REAL-TIME GRID RELIABILITY  

E-print Network

Arnold Schwarzenegger Governor REAL-TIME GRID RELIABILITY MANAGEMENT California ISO Real: California Energy Commission Public Interest Energy Research Program Prepared By: Lawrence Berkeley National Laboratory Consortium for Electric Reliability Technology Solutions APPENDIXC October 2008 CEC-500

115

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

116

Three-dimensional tori and Arnold tongues  

SciTech Connect

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.

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

117

Familial Cavernous Malformations (CCM) - Common Hispanic Mutation  

MedlinePLUS

... Learn More Familial Cavernous Malformations (CCM) - Common Hispanic Mutation What is Familial Cavernous Malformations (CCM)? Cerebral Cavernous ... Malformations (CCM)? CCM may be inherited due to mutations in one of three genes, CCM1, CCM2, or ...

118

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects  

PubMed Central

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia?/? knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia+/? and Nfia?/? phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia+/? and Nfia?/? mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects. PMID:17530927

Alkuraya, Fowzan S; Donovan, Diana J; Xi, Qiongchao; Turbe-Doan, Annick; Li, Qing-Gang; Campbell, Craig G; Shanske, Alan L; Sherr, Elliott H; Ahmad, Ayesha; Peters, Roxana; Rilliet, Benedict; Parvex, Paloma; Bassuk, Alexander G; Harris, David J; Ferguson, Heather; Kelly, Chantal; Walsh, Christopher A; Gronostajski, Richard M; Devriendt, Koenraad; Higgins, Anne; Ligon, Azra H; Quade, Bradley J; Morton, Cynthia C; Gusella, James F; Maas, Richard L

2007-01-01

119

Arteriovenous Malformation Management  

SciTech Connect

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.

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

120

Arnold: An Anthropomorphic Autonomous Robot for Human Environments  

Microsoft Academic Search

We describe the general concept, system architecture, hardware and the first behavioral abilities of Arnold, a mobile autonomous service robot with a robot arm with seven degrees of freedom and a dual stereo camera head. Arnold is anthropomorphic for better adaptation to typical human environments and to allow for human-like behavioral strategies in solving complex tasks. Arnold was designed for

Thomas Bergener; Carsten Bruckhoff; Percy Dahm; Herbert Janßen; Frank Joublin; Rainer Menzner

1997-01-01

121

Abruptio Placentae during Fetal Myelomeningocele Repair  

Microsoft Academic Search

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

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

2006-01-01

122

Amphibian Population Declines and Malformations  

E-print Network

Journal of Science 49:70-71 Alberta Naturalist 11:1-4 Conservation Biology 7:355-362, 8:72-85, 10 growth ·Organophosphate Insecticides: Chemicals & Effects: Above plus malformations and altered behavior

Gray, Matthew

123

Macroglossia due to venous malformation  

Microsoft Academic Search

Massive vascular malformation involving tongue can cause significant functional impairment. In this report we describe a rare\\u000a case of extensive venous malformation involving tongue leading to obstructive sleep apnoea, inability to speak, eat, severe\\u000a discomfort due to exposure induced dryness and ulceration. Multimodality treatment approach comprising of sclerotherapy, electrocautery\\u000a and radiation therapy was used in this case.

T. S Anand; Ritu Mittal; T. B. Shashidhar; R. K. Sharma

2006-01-01

124

Malformations of cortical development  

PubMed Central

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

Pang, Trudy; Atefy, Ramin; Sheen, Volney

2012-01-01

125

Pancreatic Arteriovenous Malformation  

PubMed Central

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

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

2014-01-01

126

Ants in Parking Lots Arnold L. Rosenberg  

E-print Network

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

Massachusetts at Amherst, University of

127

Arnold Schwarzenegger DATA SOURCES FOR CLIMATE CHANGE  

E-print Network

Arnold Schwarzenegger Governor DATA SOURCES FOR CLIMATE CHANGE RESEARCH WITH A COMPUTABLE GENERAL-Holst, University of California, Berkeley PIERPROJECTREPORT June 2007 CEC-500-2006-080 #12;California Climate Change for Climate Change Research with a Computable General Equilibrium (CGE) Model of the California Economy

128

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

129

Guide to the Arnold Arboretum Horticultural Library  

E-print Network

Guide to the Arnold Arboretum Horticultural Library of Harvard University 2009 #12;RED = CIRCULATING COLLECTION A Bibliography and biographies AO Public programs Ba Horticultural color charts Bd Horticulture Ra Encyclopedias Rb General Rc (by Geographic areas) Rd Nursery Rf Tree care and maintenance Rg

Liu, X. Shirley

130

Michael L. Arnold Publications PUBLICATIONS Books  

E-print Network

in plants. In preparation. 2. Ballerini, E.S., K. Mockaitis, J. Barb, S.J. Knapp, N.H. Martin, A.N. Brothers structure and hybridization for two Louisiana irises. In preparation. 4. Ishibashi, C.D.A., E.S. Ballerini. (Invited Review) 7. Ballerini, E.S., K. Mockaitis and M.L. Arnold. 2013. Transcriptome sequencing

Arnold, Jonathan

131

Prosocial Youth: The Legacy of Arnold Goldstein  

ERIC Educational Resources Information Center

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

Amendola, Mark; Oliver, Robert

2008-01-01

132

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

133

Current management of the Budd-Chiari syndrome.  

PubMed Central

Twenty-six patients with the Budd-Chiari syndrome were treated surgically at the Johns Hopkins Hospital. Twenty-one of the patients were female and five were male, with a median age at diagnosis of 37 years. Nine patients had polycythemia vera, 6 were receiving estrogen therapy, 5 had a previous hepatitis A or B infection, and 4 had cirrhosis. There was one case each of hepatic malignancy, paroxysmal nocturnal hemoglobinuria, and idiopathic thrombocytopenic purpura. In five cases no etiologic factors or associated disorders were identified. Ascites was the most common presenting feature in this group of patients. Hepatic function at the time of diagnosis, as measured by standard serum chemistries, was only minimally abnormal. The diagnosis of the Budd-Chiari syndrome was confirmed in all 26 patients by hepatic vein catheterization. Inferior vena cavography was also performed and revealed caval occlusion in 4 patients, significant caval obstruction in 13 patients, and a normal vena cava in 9 patients. Interpretation of the vena cavogram was helpful in selecting the appropriate surgical procedure for each patient. Twenty-three of the twenty-six patients underwent percutaneous liver biopsy before operation, with no morbidity or mortality. Four patients had well-established cirrhosis noted on biopsy. Thirty mesenteric-systemic venous shunts were performed on the 26 patients. In 11 patients a mesocaval shunt was performed and in one instance conversion to a mesoatrial shunt was required as a second procedure. In 15 patients a mesoatrial shunt was performed as the initial procedure. Graft thrombosis occurring in 2 of these 15 patients prompted one revision in 1 patient and 2 revisions in the second patient. After mesenteric-systemic venous shunt, eight of the patients (31%) died before discharge from the hospital. The remaining 18 patients in this series were discharged from the hospital alive and well with patent shunts. Patients were followed for a median of 43 months (range, 9 months to 13 years). Five late deaths occurred between 5 and 84 months after the operation. Three- and five-year actuarial survival rates were 65% and 59%, respectively. PMID:2375646

Klein, A S; Sitzmann, J V; Coleman, J; Herlong, F H; Cameron, J L

1990-01-01

134

Pulmonary arteriovenous malformations.  

PubMed

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

Shovlin, Claire L

2014-12-01

135

Delamination technique together with longitudinal incisions for treatment of Chiari I/syringomyelia complex: a prospective clinical study  

PubMed Central

Background Treatment modalities in Chiari malformation type 1(CMI) accompanied by syringomyelia have not yet been standardized. Pathologies such as a small posterior fossa and thickened dura mater have been discussed previously. Various techniques have been explored to enlarge the foramen magnum and to expand the dura. The aim of this clinical study was to explore a new technique of excision of the external dura accompanied by widening the cisterna magna and making longitudinal incisions in the internal dura, without disturbing the arachnoid. Methods Ten patients with CMI and syringomyelia, operated between 2004 and 2006, formed this prospective series. All cases underwent foramen magnum decompression of 3 × 3 cm area with C1–C2 (partial) laminectomy, resection of foramen magnum fibrous band, excision of external dura, delamination and widening of internal dura with longitudinal incisions. Results Patients were aged between 25 and 58 years and occipital headache was the most common complaint. The mean duration of preoperative symptoms was 4 years and the follow-up time was 25 months. Clinical progression was halted for all patients; eight patients completely recovered and two reported no change. In one patient, there was a transient cerebrospinal fluid (CSF) fistula that was treated with tissue adhesive. While syringomyelia persisted radiologically with radiological stability in five patients; for three patients the syringomyelic cavity decreased in size, and for the remaining two it regressed completely. Conclusion Removal of the fibrous band and the outer dural layer, at level of foramen magnum, together with the incision of inner dural layer appears to be good technique in adult CMI patients. The advantages are short operation time, no need for duraplasty, sufficient posterior fossa decompression, absence of CSF fistulas as a result of extra arachnoidal surgery, and short duration of hospitalization. Hence this surgical technique has advantages compared to other techniques. PMID:19545443

Kotil, Kadir; Ton, Tu?rul; Tari, Rabia; Savas, Yildiray

2009-01-01

136

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

PubMed

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

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

2011-12-01

137

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency  

Microsoft Academic Search

Human FOXP2 deficiency has been identified as a cause of hereditary developmental verbal dyspraxia. Another member of the same gene family, FOXP1, has expression patterns that overlap with FOXP2 in some areas of the brain, and FOXP1 and FOXP2 have the ability to form heterodimers. These findings suggest the possibility that FOXP1 may also contribute to proper speech development. However,

Christopher W Carr; Daniel Moreno-De-Luca; Colette Parker; Holly H Zimmerman; Nikki Ledbetter; Christa Lese Martin; William B Dobyns; Omar A Abdul-Rahman

2010-01-01

138

[Bilateral multilobular cystic adenomatoid malformation].  

PubMed

We reported a case of bilateral and multilobar Congenital Cystic Adenomatoid Malformation (C.C.A.M.) in a four months old child with good clinical results after resections of the lesions. This is a relatively rare form of pulmonary illness. The final prognosis, in those patients, depends on the type of malformation, the presence or absence of fetal hydrops and on the degree of affected lung. There have been reported a few cases of multiple affectation. We will consider the physiopathological aspects of the case, late clinical presentation and treatment and the positive surgical response based in the findings of the functional and anatomic imagen studys. PMID:8679395

Tristán, J U; Gracía Urgellés, X; Wiehoff Neumann, A; Hernández Briz Estévez Rosas, S; Ruiz, M P; Pavcovich Calvo, F M

1995-10-01

139

Abernethy malformation: a case report  

PubMed Central

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

2012-01-01

140

Reconstruction of middle ear malformations  

PubMed Central

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

Schwager, Konrad

2008-01-01

141

Congenital Pulmonary Malformation in Children  

PubMed Central

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life. PMID:24278678

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

142

Management of perinatal lung malformations.  

PubMed

This review uses the most up-to-date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of non-immune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent. PMID:25310108

Macardle, C A; Kunisaki, S M

2015-02-01

143

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

SciTech Connect

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

Sarawagi, Radha, E-mail: sarawagi_r@yahoo.co.uk; Keshava, Shyamkumar N., E-mail: aparna_shyam@yahoo.com; Surendrababu, Narayanam R. S., E-mail: nrssbabu@yahoo.com [Christian Medical College, Department of Radiology (India); Zachariah, Uday G., E-mail: udayzachariah@cmcvellore.ac.in; Eapen, Eapen C., E-mail: eapen@cmcvellore.ac.in [Christian Medical College, Department of Gastroenterology (India)

2011-02-15

144

Behcet¿s disease in Budd-Chiari syndrome.  

PubMed

Background/aimsBehcet¿s disease (BD) is a well-known cause of Budd-Chiari syndrome (BCS). Data are lacking on the presentation and outcome of BCS related to BD.MethodsWe investigated the relationship between BD and BCS in 14 patients with both diseases and compared the results to 92 BCS patients without BD.ResultsMale gender (p¿=¿0.003), North African origin (P¿=¿0.007) and inferior vena cava obstruction (P <0.0001) were more frequent in patients with BD and BCS than in those with BCS alone and the plasma C-reactive protein level was higher (p¿=¿0.003). Two of the patients with the combined diseases underwent recanalization of the vena cava and the hepatic veins, none received transjugular intrahepatic portosystemic shunts (TIPS), one received a surgical shunt and one underwent liver transplantation. TIPS were less frequent in patients with BD and BCS than in those with BCS alone (P¿=¿0.019). Eighty six per cent of patients with BCS and BD received corticosteroids and immunosuppressive therapy. The 5-year transplantation-free survival rate was 63% in patients with BCS alone and 91% in those without BD (P¿=¿0.11). In our series and in the literature, a high number of patients [12 (61.5%) and 11 (64.7%) respectively] treated with anticoagulation and corticosteroids and/or immunosuppressants did not require invasive treatment.ConclusionThis study shows a higher frequency of IVC obstruction in patients with BCS and BD. Medical treatment with anticoagulation and immunosuppressive agents may improve the symptoms of BCS. Therefore early management with immunosuppressive and anticoagulation therapy appears to be the treatment of choice in patients with BCS and BD. PMID:25213625

Desbois, Anne; Rautou, Pierre; Biard, Lucie; Belmatoug, Nadia; Wechsler, Bertrand; Resche-Rigon, Mathieu; Zarrouk, Virginie; Fantin, Bruno; Pineton de Chambrun, Marc; Cacoub, Patrice; Valla, Dominique; Saadoun, David; Plessier, Aurélie

2014-09-13

145

Origin of a leucogranitic gneiss (Gneiss Chiari) from Orobic Alps (N Italy)  

NASA Astrophysics Data System (ADS)

The Orobic basement (Southern Alps) mainly consists of pelitic and psammitc metasiliciclastic rocks with minor metagranitoids. A peculiar orthogneiss occurs at the top of Southalpine basement near the contact with Permo-Mesozoic cover rocks: the Gneiss Chiari del Corno Stella (or Gneiss Chiari). The Gneiss Chiari show a very homogeneous chemical composition similar to that of tourmaline leucogranites. They show a restricted silica range (75-80 wt%), high Al2O3 (>13 wt%) and alkali contents. They are poor in CaO (<0.35 wt%), MgO (<0.3 wt%), Fe2O3t (< 0.60wt%) and TiO2 ("0.05 wt%). Several characteristic and discriminant trace elements, such as Rb, Ba, Sr, Y and Zr have been chosen to underline the exceptional chemical composition and homogeneity of the granitic protholith of Gneiss Chiari. Although K2O is only 20 to 30% higher than in normal biotite granites, Rb is enriched more than 10%, reaching even 500 ppm. Rb is probably related to muscovite as well as to Kfs. The Gneiss Chiari are also characterized by high K/Rb and Rb/Zr ratios, low Ba, Sr and HFSE. In the Qtz-Ab-Or system, the Gneiss Chiari plot very close to the minimum in the range between 0.5-1.0 Kb, suggesting that they may have crystallized from a near 100%-liquid magma under water-saturated conditions at very high crustal levels. The deviation of some samples away from the minimum is probably a result of fractionation and therefore some samples do not represent the true bulk composition of the original granitic melt. In this system liquidus temperatures of these compositions ranges between 750-700 oC. The same range is obtdined from Zr saturation temperatures ( Watson &Harrison, 1983). Fractionation is dominated by Kfs and the best evidence for crystal fractionation consist of: (1) enrichment in Rb, Cs and depletion in Ba, Sr and Eu; (2) Sr and Ba both increase; (3) Rb/Sr ratios increase with decreasing Ba; (4) TiO2, LREE, Th, Ba, Sr, Y and Ce/Y decrease with decreasing Zr, whereas Rb/Sr and Sr/Ba increase. These trends also suggest that disturbance by late- or post-magmatic hydrothermal alteration is minimal. Y abundances are unusually high, though unevenly distributed. This element may be bound to apatite and to a smaller extent to tourmaline. All the samples exhibit low total REE and negative Eu anomaly, more pronounced with increasing Rb/Sr ratios. This features are consistent with the scarcity of zircon and monazite and suggest feldspars fractionation. The highly peraluminous and low-Ca composition of the Gneiss Chiari is typical of pelite-derived anatectic magma. The enrichment of the Gneiss Chiari in the incompatible elements K, Rb and Th strongly supports their crustal source. LILE (Rb, Sr and Ba) abundances in the Gneiss Chiari are compatible with their derivation by partial melting of pelites under fluid-absent condition implying dehydration melting of muscovite. A fluid-saturated melting regime, in which sufficient fluid was available to produce the maximum possible melt would produce a Sr enriched melt, which is not observed in Gneiss Chiari. It is important to emphasize that the critical melt fraction (>20%) does not represent the lowest melt fraction at which a melt may migrate, as small-degree partial melts may be efficiently separated from source by deformation-enhanced processes rather than their buoyancy alone.

Bergomi, M. A.; Boriani, A.

2003-04-01

146

Lightweight Specialized 3-Valued Logic Shape Gilad Arnold  

E-print Network

Lightweight Specialized 3-Valued Logic Shape Analyzer Gilad Arnold Electrical Engineering for supporting my work on this research. #12;Lightweight Specialized 3-Valued Logic Shape Analyzer Gilad Arnold instantiated by this frame- work give precise and meaningful results compared to actual (concrete) heap

California at Irvine, University of

147

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

ERIC Educational Resources Information Center

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

Brodie, Carolyn S.

2005-01-01

148

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

E-print Network

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

Féjoz, Jacques

149

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

ERIC Educational Resources Information Center

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…

Wheeler, David L.

1999-01-01

150

The Arnold Arboretum of Harvard University: Plants  

NSDL National Science Digital Library

The Arnold Arboretum of Harvard University provides this in-depth Web site featuring plants found at the Arboretum and related information. Visitors to this site will find sections featuring selected plants at the Arboretum, collections management, on-site projects, a plant-information hotline, and a detailed table listing bloom times for dozens of plants; guidelines for adjusting dates for localities beyond New England are provided. The Featured Plants section, for example, includes a look at 18 of the Arboretum's 600+ trees and shrubs over 100 years old and a detailed introduction to the art of bonsai. Plant lovers anywhere should enjoy this interesting and nicely presented Web site.

2003-01-01

151

Syringomyelia  

MedlinePLUS

... congenital malformation involving the hindbrain (cerebellum) called a Chiari I malformation . This malformation occurs during fetal development ... in the spinal cord. Not all patients with Chiari malformations will develop a syrinx, however. SM can ...

152

Cryptic vascular malformations involving the brainstem  

SciTech Connect

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.

Yeates, A.; Enzmann, D.

1983-01-01

153

[Malformations of the esophagus: diagnosis and therapy].  

PubMed

Esophageal malformations are rare and can occur sporadically or as a component of various syndromes. The variations and classifications are manifold. With the available modern operation techniques most malformations can be resolved with good results. However, esophageal malformations are often combined with further malformations which limit the prognosis. The separation of the trachea and esophagus after gastrulation is not yet completely researched. The results so far indicate that the localized expression of various homeodomain transcription factors is essential for normal development of the trachea and esophagus. PMID:23423505

Falkeis, C; Hager, T; Freund-Unsinn, K; Wohlschläger, J; Veits, L; Hager, J

2013-03-01

154

Budd-Chiari syndrome complicating hepatic sarcoidosis: definitive treatment by liver transplantation: a case report.  

PubMed

Sarcoidotic involvement of the liver is frequent, albeit uncommonly symptomatic. Severe complications are rare, but may seldom require liver transplantation. Budd-Chiari syndrome has been described in a few patients with hepatic sarcoidosis. Herein we have reported the case of a young woman suffering from hepatic sarcoidosis who developed severe cholestasis and chronic Budd-Chiari syndrome. She successfully underwent orthotopic liver transplantation (OLT) and is asymptomatic with normal liver function at 3 years follow-up. Histopathological assessment of the liver explant demonstrated a florid granulomatous process, with involvement of the large intrahepatic veins, providing an anatomical basis for the vascular flow disturbances. This case adds further evidence that liver transplantation may be the curative treatment for complicated sarcoidotic liver disease. PMID:19857764

Delfosse, V; de Leval, L; De Roover, A; Delwaide, J; Honoré, P; Boniver, J; Detry, O

2009-10-01

155

Chiari type I presenting as left glossopharyngeal neuralgia with cardiac syncope  

Microsoft Academic Search

.   Glossopharyngeal neuralgia is an uncommon craniofacial pain syndrome that is occasionally associated with cardiac syncope.\\u000a However, we relate Chiari I syndrome as a cause of this clinical picture for the first time in the literature. The authors\\u000a analyze the relevant literature and discuss the pathogenesis and treatment of associated syndromes. We describe the case of\\u000a a 45-year-old female patient

Paulo Henrique Aguiar; Oswaldo Tella; Carlos Pereira; Fábio Godinho; Renata Simm

2002-01-01

156

Four cases of trisomy 18 syndrome with limb reduction malformations.  

PubMed Central

Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations. Images PMID:6492096

Christianson, A L; Nelson, M M

1984-01-01

157

Diffuse malformations of cortical development.  

PubMed

Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

Bahi-Buisson, Nadia; Guerrini, Renzo

2013-01-01

158

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation  

PubMed Central

AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.?? PMID:10873992

Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.

2000-01-01

159

Management of Pulmonary Arteriovenous Malformations  

PubMed Central

Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up. PMID:22379273

Meek, Mary E.; Meek, James C.; Beheshti, Michael V.

2011-01-01

160

Scalp arteriovenous malformations in young  

PubMed Central

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.

Gupta, Rakesh; Kayal, Akshat

2014-01-01

161

The importance of being lucky: A tribute to William Arnold.  

PubMed

I present here my tribute to William Arnold, a giant and a pioneer of biophysics of photosynthesis. We honor the man, the science and the philosophy of science he has provided us since 1932. PMID:24271282

Lavorel, J

1996-05-01

162

Complicated pneumothorax and congenital lung cystic malformation.  

PubMed

Congenital cystic adenomatoid malformation, also named congenital pulmonary airway malformation (CPAM), is a congenital lung abnormality which is uncommon in adults. The usual radiological appearance of CPAM is a cystic space-occupying lesion. We present one case of CPAM with unusual clinical and radiological findings, a complicated spontaneous pneumothorax with intracystic haemorrhage with successful conservative initial treatment, despite acute haemodynamic instability. PMID:24694267

Attou, Rachid; Reper, Pascal

2014-04-01

163

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.

Center., Northern P.

1997-01-01

164

Cervical spine arterio venous malformation  

PubMed Central

We present an unusual case of a young patient who presented to our emergency department with a history of sudden onset of pain on the left side of the neck and numbness to the left arm after lifting a small weight. Patient continued to work as normal for approximately 30?min after the event and then attended the emergency department as numbness in the left arm was not resolving. On examination there was no sensorymotor deficit in the lower limbs but neurological deficits were found in the upper limbs which made us suspect a diagnosis of cervical spine injury/brachial plexus. The patient then rapidly developed numbness in both upper and lower limbs and eventually became aphasic and developed a rapid, shallow respiration and was unable to maintain the airway. The patient was then intubated and ventilated. The patient was then transferred to a neurosurgical centre after the relevant investigations was found to have an arteriovenous malformation of spinal cord. PMID:23349172

Parla, Giridhar; Ameh, Victor

2013-01-01

165

Two stage surgical management of the Budd-Chiari syndrome associated with obstruction of the inferior vena cava.  

PubMed

A new, staged surgical approach to the treatment of Budd-Chiari syndrome complicated by inferior vena caval obstruction has been described. The first stage consists of a mesoatrial shunt. After an interval to allow hepatic decongestion, re-establishment of caval flow and overall improvement in the status of the patient, a portacaval shunt is established and the mesoatrial shunt removed. Such a staged procedure produced an excellent result in the patient reported upon in this study and represents a treatment option in similar patients with Budd-Chiari syndrome complicated by obstruction of the inferior vena cava. PMID:6463819

Warren, W D; Potts, J R; Fulenwider, J T; Millikan, W J; Henderson, J M

1984-08-01

166

A gene map of congenital malformations.  

PubMed Central

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

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

1994-01-01

167

Multifocal and Metameric Spinal Cord Arteriovenous Malformations  

PubMed Central

Summary We describe 19 (16.0%) multiple vascular malformations (AVMs) in 119 spinal cord arteriovenous malformations (SCAVMs). The associated lesions were eight vertebral vascular malformations, two cutaneous, four limbs, four radicular AVMs, three bifocal SCAVMs; one patient had a bifocal cord lesion associated with vertebral and limb localisations. Various syndromic associations were seen: nine Cobb, two Klippel-Trenaunay-Weber, one Parkes Weber. An additional subgroup of unclassified associations is constituted by seven cases with bifocal intradural uni or multimetameric lesions. In our SCAVMs series, the incidence of multiple vascular lesions is high, in particular multifocal intradural malformations. Metameric distribution is the most frequent type of multiplicity. Identification of the myelomeric level involved in SCAVM allows segmental link between various lesions of mesodermal or neural crest origin to be discussed. PMID:20670488

Matsumaru, Y.; Pongpech, S.; Laothamas, J.; Alvarez, H.; Rodesch, G.; Lasjaunias, P.

1999-01-01

168

Intrahepatic collateral recanalization in symptomatic Budd-Chiari syndrome: a single-center experience.  

PubMed

The authors present a single-institutional experience with intrahepatic collateral vessel recanalization as a treatment option in symptomatic Budd-Chiari syndrome (BCS). Over a period of 26 months, this procedure was performed in four symptomatic patients in whom standard hepatic vein recanalization was not feasible or had failed, with a follow-up duration ranging from 7 to 44 months. Based on these cases, intrahepatic collateral vessel recanalization is a promising treatment option in suitable patients with symptomatic BCS and is deserving of further study. PMID:20537910

Mammen, Thomas; Keshava, Shyamkumar; Eapen, C E; Moses, Vinu; Babu, N R S Surendra; Kurien, George; Chandy, George

2010-07-01

169

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

PubMed

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

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

2014-04-01

170

Protein C and protein S deficiency presenting as Budd-Chiari syndrome.  

PubMed

Protein C and S are vitamin K-dependent natural anticoagulants. They play a major role in hemostasis by degrading the activated factor V and factor VIII. Deficiencies of protein C and protein S are associated with increased risk of thrombotic events. The combined occurrence of protein C and S deficiency has been rarely reported. We report a 6-year-old boy with Budd-Chiari syndrome due to combined protein C and protein S deficiency. He was managed with low molecular weight heparin and discharged on long-term warfarin therapy. PMID:23751604

Uvaraj, Periasamy; Rathisharmila, Ramar; Ilamaran, Veerappan

2013-09-01

171

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

2012-01-01

172

Malformation and plastic surgery in childhood  

PubMed Central

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

Siegert, Ralf; Magritz, Ralph

2014-01-01

173

Mapping the Arnold web with a GPU-supercomputer  

E-print Network

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

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

2011-12-21

174

Pulmonary arteriovenous malformations: therapeutic options.  

PubMed

We have treated 21 patients (13 female, 8 male) with pulmonary arteriovenous malformations (PAVMs). Mean age at diagnosis was 37.5 years (range, 15 to 72 years). Presenting symptoms included dyspnea on exertion (67%), hereditary hemorrhagic telangiectasia (57%), and major neurologic events (33%). In our early experience, 8 patients had no specific treatment; their case histories illustrate the major neurologic complications of untreated PAVMs. Nine patients (8 primarily, 1 after recurrence) underwent conservative surgical excision; 4 had lobectomy, and 5 had segmentectomy or subsegmental excision. One patient underwent staged bilateral thoracotomies for multiple bilateral lesions. The arterial oxygen tension was found to increase after excision of large or solitary PAVMs. All surgically treated patients were relieved of dyspnea, and none had postoperative recurrence of PAVMs or neurologic complications related to PAVMs. Five patients underwent balloon occlusion of PAVMs. Two patients chose to have solitary PAVMs occluded rather than undergo thoracotomy. One underwent surgical excision 5 years later, and the other required repeat balloon embolization 4 years later when recanalization of the PAVMs was documented. Three patients with numerous PAVMs received palliation with multiple balloon embolizations. The high incidence of associated major neurologic complications mandates aggressive treatment of PAVMs whenever feasible. Conservative surgical resection remains the treatment of choice. Balloon embolization offers an alternative therapy for patients who are poor surgical risks or those whose lesions are too numerous to resect. PMID:8347006

Puskas, J D; Allen, M S; Moncure, A C; Wain, J C; Hilgenberg, A D; Wright, C; Grillo, H C; Mathisen, D J

1993-08-01

175

Delayed presentation of anorectal malformations  

PubMed Central

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

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

2008-01-01

176

Surgical treatment for venous malformation.  

PubMed

Sclerotherapy is generally the preferred treatment for venous malformation (VM) with surgery usually playing an adjunctive role. This study presents our experience with surgical treatment of VMs. Consecutive patients were identified from our vascular anomalies database 1996-2011 and patient demographics, location of the lesion, type of tissue(s) affected and symptoms were analysed. The patients completed a questionnaire to assess the impact of surgery on the severity of symptoms, appearance, function and overall quality of life (QoL), using a visual analogue scale of 0 (no symptom) to 10 (maximal symptom). They also rated their overall satisfaction of treatment using a scale of 0 (complete dissatisfaction) to 10 (complete satisfaction). Fifty patients with VM underwent a total of 58 procedures. Complication occurred in six patients (9.7% of operations), including transient sensory loss (n=3) and permanent frontal branch palsy (n=1), haematoma formation (n=1) and minor wound dehiscence (n=1). At least 50% improvement in symptoms of background pain, acute episodic pain, contour deformity and skin discolouration occurred in 88.9%, 92.3%, 83.3% and 75.0% of patients, respectively. At least 50% improvement in the appearance, function and overall QoL occurred in 54.3%, 71.4% and 70.4% of patients, respectively. The mean overall patient satisfaction with the treatment was 8.9 (range, 1-10). Surgery remains an important treatment modality for selected patients with VM having low complication rates and high patient satisfaction. It improves the appearance, function and overall QoL for the majority of the patients by reducing the severity of pain, contour deformity and skin discolouration. PMID:24012651

Steiner, Frederica; FitzJohn, Trevor; Tan, Swee T

2013-12-01

177

Arnold Schwarzenegger TIME-OF-USE WATER METER EFFECTS  

E-print Network

Arnold Schwarzenegger Governor TIME-OF-USE WATER METER EFFECTS ON CUSTOMER WATER USE; Master Meter Ed Amelung; Southern California Edison Company ­ Matt Garcia, Curtis DeWoody, and James · Transportation TimeofUse Water Meter Impacts on Customer Water Use is the final report for the project 500 07022

178

Arnold Schwarzenegger A REVIEW OF LAND USE/LAND COVER  

E-print Network

Arnold Schwarzenegger Governor A REVIEW OF LAND USE/LAND COVER AND AGRICULTURAL CHANGE MODELS in this report. #12;Please cite this report as follows: Jones, R. 2005. A Review of Land Use/Land Cover for the information in this report; nor does any party represent that the uses of this information will not infringe

179

Stability of planar multifluid plasma equilibria by Arnold's method  

SciTech Connect

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

Holm, D.D.

1983-01-01

180

Magic Tutorial #10: The Interactive Router Michael Arnold  

E-print Network

Magic Tutorial #10: The Interactive Router Michael Arnold O Division Lawrence Livermore National in this tutorial: Cntl­R, Cntl­N 1. Introduction The Magic interactive router, Irouter, provides an interactive, and hint­layers are explained. 2. Getting Started ­ `Cntl­R', `Cntl­N', `:iroute' and `:iroute help

Martin, Alain

181

Chemical Process Modeling in Modelica Ali Baharev Arnold Neumaier  

E-print Network

Chemical Process Modeling in Modelica Ali Baharev Arnold Neumaier Fakultät für Mathematik, Universität Wien Nordbergstra�e 15, A-1090 Wien, Austria Abstract Chemical process models are highly for general-purpose chemical process modeling have been built. Multi- ple steady-states in ideal two

Neumaier, Arnold

182

Arnold Schwarzenegger COST AND VALUE OF WATER USE AT  

E-print Network

Arnold Schwarzenegger Governor COST AND VALUE OF WATER USE AT COMBINED-CYCLE POWER PLANTS PreparedFilippo. 2006. Cost and Value of Water Use at Combined-Cycle Power Plants. California Energy Commission, PIERFilippo, Consultant. The report is entitled Cost and Value of Water Use at Combined- Cycle Power Plants. This project

183

Logic in Context Arnold Neumaier and Flaviu Adrian Marginean  

E-print Network

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

Neumaier, Arnold

184

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

185

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience  

SciTech Connect

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.

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

186

[Hyperkeratotic vascular malformations. Presentation of three cases].  

PubMed

Hyperkeratotic vascular malformations (verrucous hemangiomas) are infrequent vascular lesions present from birth. Initially, they are reminiscent of port wine stains or childhood hemangioma, but over time they gradually take on their typical warty and hyperkeratotic appearance. These changes are probably due to trauma, scratching and bleeding episodes. Because the lesion is deep and goes beyond the clinical lesion, treatment is difficult and involves many recurrences. We present three cases of this vascular malformation, in two males aged 45 and 62 and a 30-year-old female. All three had the lesion from birth, and presented with frequent bleeding episodes. PMID:16476321

Piqué, Enric; Pérez-Cejudo, Juan A; Palacios, Santiago; Martínez, María Sol

2005-12-01

187

Sequelae of dental trauma: the malformed tooth  

PubMed Central

Here, we report a case of 10-year-old boy who came with a complaint of missing upper front teeth and was also concerned about his aesthetics. Significant history of trauma was present in his toddler period. Diagnosis of malformed upper right central incisor (11) by radiological investigations was carried out. Surgery was performed and there was removal of the impacted malformed upper right central incisor (11). Healing was uneventful. The patient is under follow-up for aesthetic rehabilitation to be carried out. PMID:23362061

Chaudhary, Seema; Chaitra, T R; Vijayran, Manisha; Kulkarni, Adwait Uday

2013-01-01

188

Arnold 8 Biosafety Laboratory WEB: medicine.tufts.edu/Research/Arnold8biosafetyLab EMAIL: communityrelations@tufts.edu PHONE (Community Relations): 617.627.3780  

E-print Network

Arnold 8 Biosafety Laboratory WEB: medicine.tufts.edu/Research/Arnold8biosafetyLab · EMAIL of Medicine, a world leader in infectious disease research, to develop innovative strategies to detect Caucasians. As a biosafety level 3 (BSL-3) facility, the new lab will provide a fully regulated, safe

Dennett, Daniel

189

Arnold 8 Biosafety Laboratory WEB: medicine.tufts.edu/Research/Arnold8biosafetyLab EMAIL: communityrelations@tufts.edu PHONE (Community Relations): 617.627.3780  

E-print Network

Arnold 8 Biosafety Laboratory WEB: medicine.tufts.edu/Research/Arnold8biosafetyLab · EMAIL in infectious disease research, to develop innovative strategies to detect, prevent and treat many diseases. As a biosafety level 3 (BSL-3) facility, the proposed lab will provide a fully regulated, safe and secure

Dennett, Daniel

190

Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum.  

PubMed

Congenital pulmonary airway malformations (CPAM) are a family of hamartomatous disorders due to the uncontrolled overgrowth of the terminal bronchioles. Congenital pulmonary airway malformations can co-exist with cardiovascular and/or urogenital malformations, but their association with thoracopulmonary malformations is extremely rare. We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis. PMID:22414029

Pizzi, Marco; Fassan, Matteo; Ludwig, Kathrin; Cassina, Matteo; Gervasi, Maria Teresa; Salmaso, Roberto

2012-06-01

191

Refractory hypoxemia in a 23-year-old patient with Budd-Chiari syndrome.  

PubMed

Antiphospholipid syndrome is an autoimmune disorder characterized by a hypercoagulable state, leading to arterial and venous thrombosis. We present a 23-year-old patient, suspected of having Budd-Chiari syndrome due to antiphospholipid syndrome, who developed severe and progressive hypoxemia, requiring prolonged mechanical ventilation. After a detailed but unsuccessful workup, a contrast CT scan revealed an occluded superior vena cava and azygos vein-superior vena cava junction and massive right-to-left shunting through a network of systemic to pulmonary venous collaterals. Restoring normal blood flow from the azygos vein into the right atrium by stenting the azygos-superior vena cava junction resolved the hypoxemia immediately. Within the same procedure, the hepatic outflow obstruction was successfully treated by stenting a severe stenosis of the suprahepatic inferior vena cava caused by calcified thrombus. PMID:25367480

Bunge, Jeroen J H; Wiersema, Ubbo S; Moelker, Adriaan; van Bommel, Jasper; Tjwa, Eric T T L

2014-11-01

192

A caval homograft for Budd-Chiari syndrome due to inferior vena cava obstruction  

PubMed Central

Transjugular intrahepatic portosystemic shunt (TIPS) is the standard treatment of Budd-Chiari syndrome (BCS) non responsive to medical therapy. However, patients with inferior vena cava (IVC) obstruction proximal to the atrium do not benefit from TIPS and a surgical approach is mandatory. We report the case of BCS due to intrapericardial IVC obstruction. We describe a novel surgical approach using a fresh caval homograft. An attempt to balloon dilatation of the IVC obstruction was complicated by right atrial disruption with tamponade and ventricular fibrillation. Lately, the patient successfully underwent a reconstruction of the cavo-atrial continuity by the interposition of a fresh caval homograft, a novel surgical approach never described before for BCS. Further follow-up revealed progressive reduction and resolution of ascites, and overall clinical improvement. IVC obstruction near to the atrium can be surgically approached with a new technique consisting in inferior vena cava resection and replacement with a caval homograft. PMID:23717741

Mancuso, Andrea; Martinelli, Luigi; De Carlis, Luciano; Rampoldi, Antonio Gaetano; Magenta, Giovanni; Cannata, Aldo; Belli, Luca Saverio

2013-01-01

193

Angiographically occult arteriovenous malformations of the brain  

PubMed Central

Six patients with cerebral arteriovenous malformations which did not show any pathological circulation at angiography are described. Computed tomogram appearances of such lesions may be difficult to distinguish from tumours. The need for surgical exploration in localised high attenuation lesions of uncertain nature is stressed, and the literature is reviewed. Images PMID:731249

Bell, B. A.; Kendall, B. E.; Symon, L.

1978-01-01

194

Segmental costovertebral malformation associated with lipomyelomeningocoele.  

PubMed

We describe 2 patients with segmental costovertebral malformation, a form of spondylocostal dysostosis, associated with tethering of the conus to a lipomyelomeningocoele. Such an association is rare. In both these patients the defects occurred sporadically. The relevant literature is reviewed. PMID:15936198

Nadkarni, Trimurti D; Menon, Ram Kumar; Desai, Ketan I; Goel, Atul

2005-06-01

195

Additional congenital defects in anorectal malformations  

Microsoft Academic Search

From 1974 until 1995 a total of 264 (141 ?, 123 ?) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of

E. A. M. Hassink; P. N. M. A. Rieu; B. C. J. Hamel; R. S. V. M. Severijnen; F. H. J. M. van der Staak; C. Festen

1996-01-01

196

Congenital vascular malformations in scintigraphic evaluation  

PubMed Central

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

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

2014-01-01

197

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

SciTech Connect

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.

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

198

Correction of the scimitar syndrome, a rare cardiac venous anomaly, leading to Budd–Chiari syndrome: a case report  

PubMed Central

Introduction Scimitar syndrome is a congenital heart disease characterized by an abnormal drainage of the right lung into the inferior vena cava, the right atrium or a variety of venous connections from the anomalous pulmonary vein to a systemic vein. This left-to-right shunt induces pulmonary hypertension and is an indication for surgical repair in cases of a history of recurrent pneumonia or significant left-to-right shunting. A corrective approach, which consists of rerouting the anomalous pulmonary flow to the left atrium, is usually performed. Complications of scimitar repair are stenosis, thrombosis and occlusion of the scimitar vein and its deviation. Case presentation This case report describes a 53-year-old Caucasian woman with known scimitar syndrome, undergoing surgical repair due to invaliding symptoms of dyspnoea, and presenting with postoperative Budd–Chiari syndrome due to anomalous drainage of her right hepatic vein into the left atrium. It is an interesting cause of liver pathology caused by Budd–Chiari that never has been described before. Conclusions This case report emphasizes the importance of a thorough preoperative evaluation, and the importance of antecedents in newly presenting pathology. It is an interesting cause of a known hepatic syndrome, the Budd–Chiari syndrome. This case report is of interest to many specialties, including Hepatology, Cardiology, Radiology and Cardiovascular Surgery. It exposes a new interesting anatomic variation of the scimitar syndrome with significant postoperative implications. PMID:25113120

2014-01-01

199

Color image encryption based on gyrator transform and Arnold transform  

NASA Astrophysics Data System (ADS)

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.

Sui, Liansheng; Gao, Bo

2013-06-01

200

PEOPLE IN PHYSICS: Interview with Sir Arnold Wolfendale FRS  

NASA Astrophysics Data System (ADS)

Sir Arnold Wolfendale was born on 25 June 1927, the son of Arnold and Doris Wolfendale. His BSc in Physics with First Class honours from the University of Manchester in 1948 was followed by a PhD in 1953 and a DSc in 1970. He was elected a Fellow of the Royal Society in 1977, and of the Royal Astronomical Society in 1973. In 1951 he married Audrey Darby, and they have twin sons. Sir Arnold's career has included lecturing posts at the Universities of Manchester, Durham, Ceylon and Hong Kong, and he was head of department at Durham. He retired from teaching in 1992 and was knighted in 1995. From 1991 to 1995 he was Astronomer Royal. Since 1996 he has been Professor of Experimental Physics with the Royal Institution of Great Britain. He has given lectures in many countries and in many places, and has had several books published on the subject of cosmic rays and astrophysics. He lives in Durham.

Wiltsher, Conducted by Nicholas

1997-11-01

201

Arteriovenous malformation detected by small bowel endoscopy.  

PubMed

Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine. PMID:25473391

Fujii, Takaaki; Morita, Hiroki; Sutoh, Toshinaga; Takada, Takahiro; Tsutsumi, Soichi; Kuwano, Hiroyuki

2014-09-01

202

Laser treatment of congenital vascular malformations.  

PubMed

Treatment of vascular malformations is one of the main indications for laser application in dermatology. The argon laser is suitable for coagulation of superficial lesions, the Nd:YAG laser for thicker ones. Vaporization or excision of vascular lesions can be performed by means of the CO2 laser. International standard of argon laser therapy of port wine stains are 60 to 70% good results in adult patients afflicted with red and purple lesions. In contrast argon laser therapy of pink lesions and of children is less successful. But more recently the flashlamp pumped dye laser has improved treatment results in children, since this laser acts much more vessel specific than the argon laser. Other congenital vascular lesions that respond to laser therapy are capillary hemangiomas, cavernous hemangiomas, and lymphangiomas. Future development may expand application of laser in the treatment of vascular malformations. PMID:2090705

Landthaler, M; Hohenleutner, U

1990-01-01

203

Dandy–Walker malformation: An incidental finding  

PubMed Central

Dandy–Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging. PMID:20838490

Tadakamadla, Jyothi; Kumar, Santhosh; Mamatha, G. P.

2010-01-01

204

Embolization and radiosurgery for arteriovenous malformations  

PubMed Central

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

Plasencia, Andres R.; Santillan, Alejandro

2012-01-01

205

Malformations of cortical development and epilepsy  

PubMed Central

Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures, A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etioiogic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD, The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. PMID:18472484

Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.

206

Congenital lung malformations: an ongoing controversy  

PubMed Central

Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management. PMID:23484999

Burge, DM; Marven, SS

2013-01-01

207

Congenital Intracranial Vascular Malformations in Children*  

PubMed Central

The clinical, laboratory, and other features of 16 children with congenital intracranial vascular malformations seen over a period of 15 years are presented. 13 patients had an arteriovenous (AV) malformation, 2 patients an aneurysm of the vein of Galen, and 1 a congenital internal carotid/internal jugular fistula. Based on onset of symptoms the patients ranged in age from 3 months to 16 years with an average age of 7½ years; however, 5 patients had their first clinical manifestation before 6 years of age. Unfortunately, definitive diagnosis could not be made until an average of 15½ years. The most important clinical manifestations were focal or generalized seizures and spontaneous intracranial bleeding, each occurring in 6 patients. Of 2 patients who presented with hydrocephalus, 1 had had an unexplained episode of cardiac failure during infancy. Inequality in the size of the legs, and periodic headaches were the initial manifestations in 2 other patients. Analysis of this series of patients with intracranial AV malformations suggests the following diagnostic recommendations: careful auscultation of the skull for bruits should be performed in all infants and children with cardiac failure of unknown aetiology; patients with focal seizures refractory to anticonvulsant therapy should be re-examined at frequent intervals to detect focal neurological deficit which otherwise may go unnoticed; and, finally, patients with a seizure disorder who develop focal signs of neurological deficit deserve a complete diagnostic investigation, including contrast studies. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:5314563

Lagos, Jorge C.; Riley, Harris D.

1971-01-01

208

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

ERIC Educational Resources Information Center

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

Dietz, Mark David

2010-01-01

209

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

210

Long-term Outcome of Budd-Chiari Syndrome: A Single Center Experience  

PubMed Central

BACKGROUND Budd-Chiari syndrome (BCS) is defined as hepatic venous outflow obstruction (HVOO). BCS is an uncommon, life-threatening liver disorder. This study describes the clinical and etiological characteristics in addition to the longterm outcome of BCS in a single referral center in Tehran, Iran. METHODS We reviewed long-term outcome of patients who were diagnosed with BCS between 1989 and 2012 at Shariati Hospital, a tertiary hospital affiliated with Tehran University of Medical Sciences, Tehran, Iran. The diagnosis was confirmed by at least two imaging techniques. A comprehensive analysis of the clinical and paraclinical manifestations, etiology and long-term outcome of the disease was conducted. RESULTS Seventy one patients (43 female) with a diagnosis of Budd-Chiari syndrome were identified during the 22 year period of study. The age were ranged from 17 to 64 years (median: 29 years). We excluded 16 patients because of incomplete information or follow up. The remaining 55 cases were the subjects of this study. Underlying etiologies consisted of congenital thrombophilia factors in 50% (28 cases) which was defined as protein C deficiency (12 cases), protein S deficiency (3 cases), antithrombin deficiency (3 cases) and factor V Leiden mutation (10 cases). Etiology was unknown in 18% (10 cases). Acquired causes of thrombophilia were observed in 25% (14 cases) that consisted of 9 cases of myeloproliferative disease and 5 cases of autoimmune diseases. In 3 cases pregnancy was the only etiology. The main clinical presentations were abdominal pain in 33 (60%), abdominal distention in 21 (38.2%), and jaundice in 10 (18%) cases. The main clinical signs were ascites (76.4%), splenomegaly (34%), hepatomegaly (25.5%) and deep vein thrombosis (1.8%). All 55 patients were treated with anticoagulants (heparin followed by warfarin) and supportive care. Two cases underwent mesocaval shunt surgery, 2 patients required transjugular portosystemic shunt (TIPS) and 5 were referred for liver transplantation. A total of 17 (30%) patients died during 22 years of follow up. CONCLUSION BCS, although uncommon in Iran, is a challenging liver disease with an important burden. Medical therapy that includes anticoagulation seems to be effective in most cases although the prognosis is guarded. In long-term follow up, 40% of cases will need liver transplant or die from end stage liver disease. PMID:24829685

Nozari, Neda; Vossoghinia, Hassan; Malekzadeh, Fatemeh; Kafami, Lila; Mirheidari, Mahyar; Malekzadeh, Reza

2013-01-01

211

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice. PMID:18308707

Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar

2008-01-01

212

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

PubMed Central

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

Eivazi, Behfar; Werner, Jochen A.

2014-01-01

213

Macrocephaly–capillary malformation syndrome: Three new cases  

Microsoft Academic Search

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

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

214

Hemangiomas and Vascular Malformations: Current Theory and Management  

PubMed Central

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

Richter, Gresham T.; Friedman, Adva B.

2012-01-01

215

Temporal variability in birth prevalence of cardiovascular malformations  

Microsoft Academic Search

OBJECTIVETo investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare “anatomical” and “physiological” diagnostic hierarchies within a population.DESIGNRetrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy.SETTINGThe resident population of one health region.PATIENTSAll infants live born from 1985 to 1997 with cardiovascular malformations confirmed by echocardiography, cardiac catheterisation, surgery or autopsy.MAIN

C Wren; S Richmond; L Donaldson

2000-01-01

216

A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland  

Microsoft Academic Search

Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and

K. S. Kuehl; C. A. Loffredo

2006-01-01

217

Hydromyelia  

MedlinePLUS

... children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, ... primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord ...

218

Syringomyelia  

MedlinePLUS

... to an abnormality of the brain called a Chiari I malformation, named after one of the physicians ... location depend on the type of syringomyelia. In Chiari malformation, the main goal of surgery is to ...

219

Syringomyelia  

MedlinePLUS

... a congenital abnormality of the brain called a Chiari I malformation. This malformation occurs during the development ... 533-3231 Fax: 916-652-8190 American Syringomyelia & Chiari Alliance Project (ASAP) P.O. Box 1586 Longview, ...

220

Malformations Among the X-Linked Intellectual Disability Syndromes  

PubMed Central

Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814

Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis

2013-01-01

221

EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.  

PubMed

An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases. PMID:24482415

Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

2014-03-01

222

Elevated serum erythropoietin in a patient with polycythaemia vera presenting with Budd-Chiari syndrome.  

PubMed

Polycythaemia vera (PV) is a clonal disorder of bone marrow stem cells characterised by erythrocytosis. Diagnosis of PV requires exclusion of secondary causes of polycythaemia. It has been held that an elevated erythropoietin (Epo) level strongly indicates secondary erythrocytosis and excludes PV diagnosis, to the extent that the reduced serum Epo level is currently listed as a minor criterion in the WHO classification scheme for PV. However, patients with PV who co-present with Budd-Chiari syndrome have been documented with elevated serum Epo levels. For these patients, identification of the Janus kinase 2 (JAK2) V617F point mutation along with the transient nature of the Epo elevation provides certainty of PV diagnosis, as illustrated by the proband. In this case report, the patient's positive response to cytoreductive therapy (hydroxyurea 500?mg daily) and phlebotomy (750?mL over three phlebotomies) further supports validity of PV diagnosis with elevated Epo. The patient remains on rivaroxaban (Xarelto) for treatment of her portal vein thrombosis. PMID:25452296

Jones, Catherine; Levy, Yair; Tong, Alex W

2014-01-01

223

Investigation on etiology of hepatic venous obstruction budd-Chiari syndrome.  

PubMed

Budd-Chiari syndrome (BCS) is an uncommon clinical condition with a complex etiology. Pathogenesis of BCS is still poorly understood. We included hepatic veno-occlusive lesion tissues of 20 patients (patients group) with hepatic venous obstruction BCS and compared with 20 similar tissues with other etiologies (control group). Morphological changes in hepatic veno-occlusive lesion tissues and the positive expression of proliferating cell nuclear antigen (PCNA), C-myc, and P-53 were observed by the pathological examination (H&E staining) and immunohistochemistry assay. Our results showed that PCNA and C-myc positive cell densities were significantly higher in patient group than control group. P-53 positive cell density showed increasing trends in patients than control group. Moreover, we observed irregular hyperplasia in intimal tissue, fibrous connective tissue, and smooth muscle cell, accompanied by tissue degeneration (hyaloid degeneration and fibrinoid degeneration) and a large quantity of inflammatory cell infiltration. In conclusion, an overexpression of PCNA, C-myc, and a weak positive expression of P53 might launch the extremely irregular hepatic venous intimal hyperplasia, which is probably one of the etiologies of hepatic venous obstruction BCS. PMID:25096503

Tian, Zhi-Long; Jia, Gao-Lei; Xi, Hai-Lin; Feng, Su; Wang, Xiao-Kai; Li, Rui

2014-12-01

224

The Arnold cat map, the Ulam method and time reversal  

NASA Astrophysics Data System (ADS)

We study the properties of the Arnold cat map on a torus with several periodic sections using the Ulam method. This approach generates a Markov chain with the Ulam matrix approximant. We study numerically the spectrum and eigenstates of this matrix showing their relation with the Fokker-Planck relaxation and the Kolmogorov-Sinai entropy. We show that, in the frame of the Ulam method, the time reversal property of the map is preserved only on a short Ulam time which grows only logarithmically with the matrix size. Parallels with the evolution in a regime of quantum chaos are also discussed.

Ermann, L.; Shepelyansky, D. L.

2012-03-01

225

Arnold cat map, Ulam method and time reversal  

E-print Network

We study the properties of the Arnold cap map on a torus with a several periodic sections using the Ulam method. This approach generates a Markov chain with the Ulam matrix approximant. We study numerically the spectrum and eigenstates of this matrix showing their relation with the Fokker-Plank relaxation and the Kolmogorov-Sinai entropy. We show that, in the frame of the Ulam method, the time reversal property of the map is preserved only on a short Ulam time which grows only logarithmically with the matrix size. Parallels with the evolution in a regime of quantum chaos are also discussed.

Leonardo Ermann; Dima L. Shepelyansky

2011-07-03

226

Laser treatment of oral vascular malformations  

NASA Astrophysics Data System (ADS)

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

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

2014-01-01

227

Intraventricular cavernous malformation radiologically mimicking meningioma.  

PubMed

We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM. PMID:19119474

Jin, Sung-Chul; Ahn, Jae-Sung; Kwun, Byung-Duk; Kwon, Do Hoon

2008-11-01

228

Stereotactic radiosurgery of intracranial cavernous malformations.  

PubMed

Despite increasing worldwide experience, the role of stereotactic radiosurgery (SRS) in the management of cerebral cavernous malformations (CMs) remains controversial. Microsurgical excision of easily accessible CMs is typically safe; therefore, removal remains the gold standard for most of the symptomatic hemispheric lesions. However, there is now sufficient evidence supporting the use of SRS for the difficult cases. Waiting for the cumulative morbidity of the natural history to justify intervention does not serve the patient's interest, therefore, we argue for early radiosurgical intervention. Carefully designed randomized controlled trials might resolve controversies concerning the role of SRS in treating cerebral CMs. PMID:24093575

Nagy, Gábor; Kemeny, Andras A

2013-10-01

229

Congenital lung malformations: informing best practice.  

PubMed

The management of congenital lung malformations is controversial both in the prenatal and postnatal periods. This article attempts to inform best practice by reviewing the level of evidence with regard to prenatal diagnosis, prognosis, and management and postnatal management, including imaging, surgical indication, surgical approach, and risk of malignancy. We present a series of clinically relevant statements along those topics and analyze the evidence for each. In the end, we make a plea for an adequate description of the lesions, both before and after birth, which will allow future comparisons between management options and the initiation of prospective registries. PMID:25459011

Baird, Robert; Puligandla, Pramod S; Laberge, Jean-Martin

2014-10-01

230

Brain arteriovenous malformations: from diagnosis to treatment.  

PubMed

Brain arteriovenous malformations (bAVM) are a major cause of morbidity in young people. The main mode of presentation is with a cerebral bleeding or seizures, although nowadays, due to the increased use of MRI, more asymptomatic bAVMs are encountered. The clinical course of asymptomatic bAVMs seems to be mild in comparison to bAVMs that presented with a cerebral hemorrhage. This finding may lead to a paradigm shift regarding treatment of asymptomatic bAVMs. This review discusses the latest findings in bAVM epidemiology and natural history, and compares the optimal imaging modalities and best treatment options. PMID:21464809

Buis, D R; Van Den Berg, R; Lagerwaard, F J; Vandertop, W P

2011-03-01

231

Endovascular approaches to pial arteriovenous malformations.  

PubMed

Endovascular approaches to arteriovenous malformations (AVMs) are often necessary to define and help treat these often complex lesions. Angiography provides important information to help plan surgical or radiosurgical approaches. Modern embolization techniques allow AVMs to be treated with the goals of making surgery safer and easier, eliminating high-risk features in patients with AVMs who are otherwise not candidates for treatment, and even potentially curing the patient of the lesion. Liquid embolic agents have significantly advanced what is possible with endovascular treatment of AVMs. PMID:24994088

Sanborn, Matthew R; Park, Min S; McDougall, Cameron G; Albuquerque, Felipe C

2014-07-01

232

Role of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

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

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

233

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype  

PubMed Central

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

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

2005-01-01

234

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis  

Microsoft Academic Search

Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by

Robert F. Hevner

2005-01-01

235

Long term respiratory outcomes of congenital thoracic malformations.  

PubMed

The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631

Davenport, Mark; Eber, Ernst

2012-04-01

236

Field Guide to Malformations of Frogs and Toads  

E-print Network

Field Guide to Malformations of Frogs and Toads With Radiographic Interpretations U.S. Department and Toads With Radiographic Interpretations Carol U. Meteyer USGS National Wildlife Health Center Madison. Suggested citation: Meteyer, C.U. 2000. Field guide to malformations of frogs and toads with radiographic

Torgersen, Christian

237

Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases  

PubMed Central

Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings. PMID:23373038

Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

2012-01-01

238

The ear and its malformations: strange beliefs and misconceptions  

Microsoft Academic Search

Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and

Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi

2003-01-01

239

Stereotactic proton beam therapy for intracranial arteriovenous malformations  

Microsoft Academic Search

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

Frederik J. A. I.. Vernimmen; Jacobus P. Slabbert; Jennifer A. Wilson; Shaheeda Fredericks; Roger Melvill

2005-01-01

240

Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure  

Microsoft Academic Search

Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21

José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvão do Amaral Campos; Kenji Nishinari; Nelson Wolosker

2010-01-01

241

Isospectral flow and Liouville-Arnold integration in loop algebrast  

NASA Astrophysics Data System (ADS)

Some standard examples of Hamiltonian systems that are integrable by classical means are cast within the framework of isospectral flows in loop algebras. These include: the Neumann oscillator, the cubically nonlinear Schrödinger systems and the sine-Gordon equation. Each system has an associated invariant spectral curve and may be integrated via the Liouville-Arnold technique. The linearizing map is the Abel map to the associated Jacobi variety, which is deduced through separation of variables in hyperellipsoidal coordinates. More generally, a family of moment maps is derived, embedding certain finite dimensional symplectic manifolds, which arise through Hamiltonian reduction of symplectic vector spaces, into rational coadjoint orbits of loop algebras widetilde{mathfrak{g}}^+ ? widetilde{mathfrak{g}mathfrak{l}}(r)^+.Integrable Hamiltonians are obtained by restriction of elements of the ring of spectral invariants to the image of these moment maps; the isospectral property follows from the Adler-Kostant-Symes theorem. The structure of the generic spectral curves arising through the moment map construction is examined. Spectral Darboux coordinates are introduced on rational coadjoint orbits in widetilde{mathfrak{g}mathfrak{l}}(r)^{ + *}, and these are shown to generalize the hyperellipsoidal coordinates encountered in the previous examples. Their relation to the usual algebro-geometric data, consisting of linear flows of line bundles over the spectral curves, is given. Applying the Liouville-Arnold integration technique, the Liouville generating function is expressed in completely separated form as an abelian integral, implying the Abel map linearization in the general case.

Harnad, J.

242

Endoscopic assisted cochlear implants in ear malformations.  

PubMed

The aim of present study is to describe the use of the endoscopic assisted cochlear implant approach in cases with severely malformed temporal bones and with anomalous anatomy of the inner ear and tympanic cavity. Eight patients with malformed middle and inner ear and bilateral profound hearing loss were operated using an endoscopic assisted cochlear implant procedure at our tertiary university referral center between January and September 2013. Five patients received a cochlear implant using a suprameatal endoscopic assisted approach. A chart review of clinical data and videos from the operations was performed. All procedures were re-analyzed and codified. In all patients, discharge from hospital was on the third day post-surgery. No immediate or late postoperative complications were noted. The current mean follow-up is 6 months, with range between 4 and 12 months. This approach proved to be successful in cochlear implant placement. It guaranteed a very good control on the facial nerve, even in cases with difficult anatomical conditions, mainly thanks to the endoscopic procedure. It also permitted an appropriate anatomical orientation of the abnormal middle ear with a direct safe cochleostomy, when the round window position would have been difficult to treat using a traditional approach. PMID:25085636

Marchioni, Daniele; Soloperto, Davide; Guarnaccia, Maria C; Genovese, Elisabetta; Alicandri-Ciufelli, Matteo; Presutti, Livio

2014-08-01

243

Mid-hindbrain malformations due to drugs taken during pregnancy.  

PubMed

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

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

2014-04-01

244

The Budd-Chiari syndrome. Treatment by mesenteric-systemic venous shunts.  

PubMed Central

Twelve patients with the Budd-Chiari syndrome have been managed surgically. Ten of the patients were female, two were male, with a mean age of 40 years. Three of the patients had polycythemia vera, two had pre-existing cirrhosis, one had ingested estrogens, one had an occult tumor, and in four there were no associated factors. Ten patients presented with ascites and two with bleeding esophageal varices. The diagnosis was confirmed in all 12 patients by liver biopsy and hepatic vein catheterization. Inferior vena cavography revealed the abdominal vena cava to be thrombosed in six patients. The superior mesenteric vein was used to decompress the congested liver in all 12 patients. In five patients, a mesocaval shunt (MCS) was performed and in seven patients, a mesoatrial shunt (MAS) was carried out. There were four hospital deaths (two MCS, two MAS). One late death (MAS) occurred from liver failure following shunt thrombosis. Two additional patients (one MCS, one MAS) re-developed ascites immediately following surgery and angiography revealed a thrombosed shunt. Ascites has been controlled with a LeVeen shunt in these two patients, but liver biopsies showed progression to cirrhosis. The remaining five patients (three MAS, two MCS) did well, and angiography revealed patent shunts. Two of these patients, however, re-developed ascites at 4 and 10 months following MAS and required a second MAS. Follow-up ranges from 6 to 68 months. In three of the patients (two MCS, one MAS) with patent shunts, liver biopsy shows a remarkable return toward normal liver architecture and histology. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. Fig. 6. Fig. 7. PMID:6615056

Cameron, J L; Herlong, H F; Sanfey, H; Boitnott, J; Kaufman, S L; Gott, V L; Maddrey, W C

1983-01-01

245

Treatment of Budd-Chiari syndrome with a focus on transjugular intrahepatic portosystemic shunt  

PubMed Central

AIM: To evaluate long-term complications and survival in patients with Budd-Chiari syndrome (BCS) referred to a Danish transjugular intrahepatic portosystemic shunt (TIPS) centre. METHODS: Twenty-one consecutive patients from 1997-2008 were retrospectively included [15 women and 6 men, median age 40 years (range 17-66 years)]. Eighteen Danish patients came from the 1.8 million catchment population of Aarhus University Hospital and three patients were referred from Scandinavian hospitals. Management consisted of tests for underlying haematological, endocrinological, or hypercoagulative disorders parallel to initiation of specific treatment of BCS. RESULTS: BCS was mainly caused by thrombophilic (33%) or myeloproliferative (19%) disorders. Forty-three percents had symptoms for less than one week with ascites as the most prevalent finding. Fourteen (67%) were treated with TIPS and 7 (33%) were manageable with treatment of the underlying condition and diuretics. The median follow-up time for the TIPS-treated patients was 50 mo (range 15-117 mo), and none required subsequent liver transplantation. Ascites control was achieved in all TIPS patients with a marked reduction in the dose of diuretics. A total of 14 TIPS revisions were needed, mostly of uncovered stents. Two died during follow-up: One non-TIPS patient worsened after 6 mo and died in relation to transplantation, and one TIPS patient died 4 years after the TIPS-procedure, unrelated to BCS. CONCLUSION: In our BCS cohort TIPS-treated patients have near-complete survival, reduced need for diuretics and compared to historical data a reduced need for liver transplantation. PMID:23383365

Neumann, Anders Bay; Andersen, Stine Degn; Nielsen, Dennis Tønner; Holland-Fischer, Peter; Vilstrup, Hendrik; Grønbæk, Henning

2013-01-01

246

Spectral CT imaging in patients with Budd-Chiari syndrome: investigation of image quality.  

PubMed

To assess the image quality of monochromatic imaging from spectral CT in patients with Budd-Chiari syndrome (BCS), fifty patients with BCS underwent spectral CT to generate conventional 140 kVp polychromatic images (group A) and monochromatic images, with energy levels from 40 to 80, 40 + 70, and 50 + 70 keV fusion images (group B) during the portal venous phase (PVP) and the hepatic venous phase (HVP). Two-sample t tests compared vessel-to-liver contrast-to-noise ratio (CNR) and signal-to-noise ratio (SNR) for the portal vein (PV), hepatic vein (HV), inferior vena cava. Readers' subjective evaluations of the image quality were recorded. The highest SNR values in group B were distributed at 50 keV; the highest CNR values in group B were distributed at 40 keV. The higher CNR values and SNR values were obtained though PVP of PV (SNR 18.39 ± 6.13 vs. 10.56 ± 3.31, CNR 7.81 ± 3.40 vs. 3.58 ± 1.31) and HVP of HV (3.89 ± 2.08 vs. 1.27 ± 1.55) in the group B; the lower image noise for group B was at 70 keV and 50 + 70 keV (15.54 ± 8.39 vs. 18.40 ± 4.97, P = 0.0004 and 18.97 ± 7.61 vs. 18.40 ± 4.97, P = 0.0691); the results show that the 50 + 70 keV fusion image quality was better than that in group A. Monochromatic energy levels of 40-70, 40 + 70, and 50 + 70 keV fusion image can increase vascular contrast and that will be helpful for the diagnosis of BCS, we select the 50 + 70 keV fusion image to acquire the best BCS images. PMID:24833430

Su, Lei; Dong, Junqiang; Sun, Qiang; Liu, Jie; Lv, Peijie; Hu, Lili; Yan, Liangliang; Gao, Jianbo

2014-11-01

247

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

PubMed Central

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

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

2015-01-01

248

Treatment of Budd-Chiari syndrome with inferior vena cava thrombosis  

PubMed Central

The aim of this study was to evaluate the initial results of 41 patients with Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) thrombosis, with regard to the clinical safety and feasibility of the therapeutic approaches selected according to the classification of the condition. Forty-one patients with BCS and IVC thrombosis were admitted for retrospective analysis. All 41 patients were classified as having one of three types of BCS. Interventional therapy was used successfully in 28 patients (68.3%), 7 patients (17.1%) were given conservative treatment and 6 patients (14.6%) were treated with surgical shunts. The interventional approach was used in 29 patients in total and was successful in 28 patients (all those of types I and II, and 3 of the 4 patients of type III with acute thrombosis; 96.6%). None of these 28 patients had pulmonary embolism, pericardial tamponade or intra-abdominal bleeding. After 1–5 years, 4 patients (9.8%) had a second dilation of the IVC. In the 7 cases treated in a conservative manner, 2 cases succumbed to upper gastrointestinal bleeding and 1 case succumbed to liver and kidney failure. This study indicates that the classification of BCS patients with IVC thrombosis is helpful in selecting a therapeutic approach. Interventional therapy is the first therapeutic choice for BCS patients with IVC thrombosis of type I, type II or type III with acute thrombosis. For the patients of type III with an obsolete thrombus, surgical shunts or conservative treatment are the main therapeutic methods. PMID:23596497

WANG, RUIHUA; MENG, QINGYI; QU, LIFENG; WU, XUEJUN; SUN, NIANFENG; JIN, XING

2013-01-01

249

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

PubMed

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., 2014. © 2014 Wiley Periodicals, Inc. PMID:25425533

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

2014-11-25

250

Associated malformations in patients with limb reduction deficiencies.  

PubMed

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

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

2010-01-01

251

Multimodality imaging of pancreatic arteriovenous malformation.  

PubMed

Arteriovenous malformation of the pancreas (PAVM) is a very rare entity, although it may be increasingly diagnosed with the expanding use of cross-sectional imaging of the abdomen. PAVM is characterized by a network of tangled vasculature within and surrounding all or part of the pancreas, resulting in the shunting of the arteries of the pancreas directly into the portal venous system. Here, we present a patient with chronic abdominal pain and pancreatitis found to have PAVM, based on the findings of computed tomography, magnetic resonance imaging, endoscopic retrograde cholangiopancreatography, and angiography. Differential considerations are discussed. Although PAVM is uncommon, it should be considered in the differential of patients with recurrent abdominal pain or gastrointestinal bleeding. PMID:25262988

Hansen, Wendy; Maximin, Suresh; Shriki, Jabi E; Bhargava, Puneet

2015-01-01

252

Familial Dandy-Walker malformation and leukodystrophy.  

PubMed

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968

Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B

1997-05-01

253

Intracranial arteriovenous malformation: contralateral steal phenomena.  

PubMed

Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with 133Xe single-photon emission computed tomography. Contralateral regions of hypoperfusion were detected in all cases. Steal severity was assessed according to the contralateral steal index [ISteal(c)]. ISteal(c) was greater than 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and greater than 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males (p less than 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preoperatively identify patients at high risk for a poor surgical outcome. PMID:2477740

Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J

1989-05-01

254

Third ventricular cavernous malformation: an unusual lesion.  

PubMed

Cavernomas constitute 5-10% of all the vascular malformations of the CNS. They commonly present during the 2nd and 5th decades of life. Intraventricular cavernomas constitute rare pathological entity, constituting 2.5-10.8% of cerebral cavernomas. (1) The natural history of intraventricular cavernomas remains undefined to some extent. Those in third ventricle are different in biological nature and need more aggressive therapy. These cavernomas appear to have the ability to grow very rapidly, resulting in significant morbidity. It is not known whether waiting after acute hemorrhage from an intraventricular cavernoma improves our ability to remove the lesion safely or if waiting unnecessarily increases the risk of hydrocephalus, additional bleeding, or further lesion growth. PMID:23952135

Patibandla, Mohana Rao; Thotakura, Amit Kumar; Panigrahi, Manas Kumar

2014-01-01

255

Two major patterns of nongenetic malformations are found at autopsy.  

PubMed

Patterns of malformations seen in autopsies may contribute to the understanding of their pathogenetic mechanisms. Two entities, acardiac twins (ATs) and amniotic band disruption complex (ABDC), have distinct patterns, indicating different mechanisms, namely vascular perfusion deficit and external disruption. With ATs and ABDC as model groups, this study was undertaken to see if other dysmorphic infants with the characteristic defects of these models formed distinct and numerically important groups. A total of 192 autopsies with nongenetic malformations was divided into groups including (1) those with defects found in the ATs but not in the ABDC, (2) those with defects found only in the ABDC, and (3) those with a mixture of exclusive defects from each model group. The cases followed the characteristic defects of ATs or ABDC in 20% (group 1) and 28% (group 2), respectively, forming 2 large and distinct groups; only 4% had mixed malformations (group 3). Group 1 had different characteristics from group 2 as a result of the frequent multiple malformations, often with congenital heart defects (CHDs), internal and inferior malformations. These cases were probably related to a vascular perfusion deficit. Group 2 had a majority of females and single, external, and superior defects, but it lacked CHDs and inferior malformations. These cases were likely due to external disruption. Two large and distinct groups of autopsies with nongenetic malformations were thus identified, and their mechanisms are proposed to be similar to those of the model groups. PMID:21105785

Davies, Belinda R; Giménez-Scherer, Juan Antonio

2011-01-01

256

A developmental and genetic classification for midbrain-hindbrain malformations  

PubMed Central

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

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

257

Temporary umbilical loop colostomy for anorectal malformations.  

PubMed

Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137

Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

2012-11-01

258

Amplatzer vascular plugs in congenital cardiovascular malformations  

PubMed Central

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

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

2013-01-01

259

STABILITY OF LAGRANGE ELEMENTS FOR THE MIXED DOUGLAS N. ARNOLD AND MARIE E. ROGNES  

E-print Network

STABILITY OF LAGRANGE ELEMENTS FOR THE MIXED LAPLACIAN DOUGLAS N. ARNOLD AND MARIE E. ROGNES Computing at Simula Research Laboratory. 1 arXiv:0907.3438v1[math.NA]20Jul2009 #12;2 DOUGLAS N. ARNOLD AND MARIE E. ROGNES Here, · div and · 0 denote the norms on H(div, ) and L2 (), · , · is the L2 () inner

Arnold, Douglas N.

260

Arnold Arboretum: South Central China and Tibet: Hotspot of Diversity  

NSDL National Science Digital Library

For well over one hundred years, The Arnold Arboretum has sent scientists to document and explore the various corners of Asia. In the early 1920s, the Arboretum sent an expedition that remained in the Hengduan Mountain region for three years. Upon their return, the expedition returned with all types of flora and fauna, including stuffed birds, seeds, and hundreds of photographic images. This online collection contains digitized materials from that notable expedition, and subsequent expeditions that have taken place in the 1990s and the 2000s. Visitors can dive right in by clicking on the "Search Expedition Collections" section where they can look at images of rock specimens, read reports from the expeditions, and browse interactive maps of the region. It's a tremendous collection, and one that will warrant several return visits.

261

Arnold Arboretum: South Central China and Tibet: Hotspot of Diversity  

NSDL National Science Digital Library

For well over one hundred years, The Arnold Arboretum has sent scientists to document and explore the various corners of Asia. In the early 1920s, the Arboretum sent an expedition that remained in the Hengduan Mountain region for three years. Upon their return, the expedition returned with all types of flora and fauna, including stuffed birds, seeds, and hundreds of photographic images. This online collection contains digitized materials from that notable expedition, and subsequent expeditions that have taken place in the 1990s and the 2000s. Visitors can dive right in by clicking on the "Search Expedition Collections" section where they can look at images of rock specimens, read reports from the expeditions, and browse interactive maps of the region. It's a tremendous collection, and one that will warrant several return visits.

2009-06-01

262

[Intestinal malrotation: genetics features and other congenital malformations in children].  

PubMed

The article is devoted to features of prenatal development of children with intestinal malrotation. Mass, height, head and chest circumferences of children after birth have been studied. In addition all associated malformations, a blood group (ABO system) and the rhesus-factor have been investigated. In comparison to the control group of newborn the disorders of prenatal development have included associated malformations, low anthropometric data after birth, decreasing of pA gene frequency. Notable, children with intestinal malrotation have had high frequency of malformations as in the abdominal and thoracic cavities as outside intestinal innervations: the small pelvis, the facial skeleton, the upper and lower extremity. PMID:22379897

Botvin'ev, O K; Eremeeva, A V; Razumovskaia, I N; Kondrikova, E V

2011-01-01

263

Otosclerosis associated with type B-1 inner ear malformation  

PubMed Central

Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis. PMID:20948592

De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

2010-01-01

264

A case of lymphatic malformation/lymphangioma of the scrotum  

PubMed Central

Lymphatic malformation/lymphangioma of the scrotum is rare. It is caused by lymphatic abnormalities and the most common sites are the neck and axilla. The scrotum is one of the most uncommon sites. We report the case of a 12-year-old boy with pathologically confirmed cystic lymphangioma/lymphatic malformation in the scrotum. The diagnosis was suspected from ultrasonography and magnetic resonance imaging. The most common cause of a cystic mass in the scrotum is scrotal hydrocele, but cystic lymphangioma/lymphatic malformation should be considered as a differential diagnosis for multicystic scrotal mass. PMID:23986836

Akaike, Gensuke; Nozaki, Taiki; Makidono, Akari; Saida, Yukihisa; Hirabayashi, Takeshi; Suzuki, Koyu

2012-01-01

265

Prenatal diagnosis and management of fetal cardiovascular malformations.  

PubMed

Screening for fetal cardiovascular malformations is widely performed. Its accuracy is not yet satisfactory, but better training of ultrasonographers and extension from the four-chamber view to the study of the outflow tract are probably clues to an improvement. The main impact of prenatal diagnosis is still the termination of pregnancy for severe malformations and for those associated with chromosomal or extracardiac anomalies. There is now evidence that prenatal diagnosis improves perinatal morbidity or mortality for some malformations. New information about the molecular genetic basis of congenital heart disease will help in management and counselling. PMID:10813571

Todros, T

2000-04-01

266

Syndromes and malformations associated with congenital heart disease in a population-based study  

Microsoft Academic Search

Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic\\/multiply malformed infants is routinely carried out. Malformations were classified by

Victor Grech; Miriam Gatt

1999-01-01

267

Nuclear medicine dynamic investigations in the diagnosis of Budd-Chiari syndrome  

PubMed Central

AIM: To investigate the hepatic hemodynamics in the Budd-Chiari syndrome (BCS) using per-rectal portal scintigraphy (PRPS) and liver angioscintigraphy (LAS). METHODS: Fourteen consecutive patients with BCS were evaluated by PRPS between 2003 and 2012. Ten of them underwent LAS and liver scan (LS) with Tc-99m colloid. Eleven patients had clinical manifestations and three were asymptomatic, incidentally diagnosed at PRPS. The control group included 15 healthy subjects. We used new parameters at PRPS, the liver transit time of portal inflow and the blood circulation time between the right heart and liver. PRPS offered information on the hepatic areas missing venous outflow or portal inflow, length and extent of the lesions, open portosystemic shunts (PSS), involvement of the caudate lobe (CL) as an intrahepatic shunt and flow reversal in the splenic vein. LAS was useful in the differential diagnosis between the BCS and portal obstructions, highlighting the hepatic artery buffer response and reversed portal flow. LS offered complementary data, especially on the CL. RESULTS: We described three hemodynamic categories of the BCS with several subtypes and stages, based on the finding that perfusion changes depend on the initial number and succession in time of the hepatic veins (HVs) obstructions. Obstruction of one hepatic vein (HV) did not cause opening of PSS. The BCS debuted by common obstruction of two HVs had different hemodynamic aspects in acute and chronic stages after subsequent obstruction of the third HV. In chronic stages, obstruction of two HVs resulted in opening of PSS. The BCS, determined by thrombosis of the terminal part of the inferior vena cava, presented in the acute stage with open PSS with low speed flow. At least several weeks are required in the obstructions of two or three HVs for the spontaneous opening of dynamically efficient PSS. The CL seems to have only a transient important role of intrahepatic shunt in several types of the BCS. CONCLUSION: Dynamic nuclear medicine investigations assess the extent and length of hepatic venous obstructions, open collaterals, areas without portal inflow, hemodynamic function of the CL and reverse venous flow. PMID:24799994

Dragoteanu, Mircea; Balea, Ioan-Adrian; Piglesan, Cecilia-Diana

2014-01-01

268

Malformation syndromes associated with disorders of sex development.  

PubMed

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517

Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D

2014-08-01

269

Variants in CUL4B are Associated with Cerebral Malformations.  

PubMed

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

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

2015-01-01

270

Management strategy after diagnosis of Abernethy malformation: a case report  

PubMed Central

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

2012-01-01

271

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

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

272

Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation  

PubMed Central

Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision. PMID:20591266

Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.

2003-01-01

273

Multiple medullary venous malformations decreasing cerebral blood flow: Case report  

SciTech Connect

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

Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. (Research Institute for Brain and Blood Vessels, Akita (Japan))

1991-02-01

274

Novel transcatheter closure of internal iliac arteriovenous malformation.  

PubMed

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

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

2011-05-01

275

Contemporary Themes: Congenital Malformations and the Problem of their Control*  

PubMed Central

The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth. PMID:4262651

Lowe, C. R.

1972-01-01

276

Intracranial hypertension associated with unruptured cerebral arteriovenous malformations.  

PubMed

Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilledema (6 patients), headache (6), transient nonepileptic focal symptoms (4), visual obscurations (3), ipsilateral carotid or ocular bruits (3), abnormal visual fields (3), focal seizures (2), and progressive visual loss (1). Enhanced computed tomography (CT) or magnetic resonance imaging (MRI) demonstrated the malformations in all 6 patients. The malformations were large, supplied by the branches of the middle and anterior cerebral arteries, with the posterior cerebral artery contributing in 3 patients, and all drained into the superior sagittal sinus. Associated venous obstruction was seen in 2 patients. Four patients underwent excision of the arteriovenous malformation, with resolution of papilledema in all 4. Measurements of cortical arterial and venous pressures during surgery in 3 patients showed decreased feeding artery pressures and elevated draining vein pressures, which normalized after removal of the malformation. Treatment in the 2 remaining patients consisted of medical therapy (acetazolamide, furosemide, steroids) alone in 1 patient, and in conjunction with proton beam radiation in the other. Papilledema resolved in the former patient, but the patient receiving proton beam radiation still had papilledema 2 years later. Intracranial hypertension associated with unruptured cerebral arteriovenous malformations occurs in young patients with high flow malformations that drain into the superior sagittal sinus, and is likely the result of increased cortical venous and superior sagittal sinus pressure. Excision of the malformation effectively reduces the intracranial pressure. PMID:2193610

Chimowitz, M I; Little, J R; Awad, I A; Sila, C A; Kosmorsky, G; Furlan, A J

1990-05-01

277

Sleep Spindle Alterations in Patients with Malformations of Cortical Development  

PubMed Central

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

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

2009-01-01

278

Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

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

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

2000-01-01

279

Giant cystic cerebral cavernous malformation with multiple calcification - case report.  

PubMed

Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

Kim, Il-Chun; Kwon, Ki-Young; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

2013-09-01

280

Cerebral arteriovenous malformation associated with moyamoya disease.  

PubMed

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

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

2014-10-01

281

Intraoperative embolization of cerebral arteriovenous malformations.  

PubMed

Nineteen patients with large cortical or deep seated cerebral arteriovenous malformation (AVM) were treated with intraoperative embolization using bucrylate (isobutyl-2-cyanoacrylate, IBC). In three cases of medium-sized AVM, the procedure was followed by a total excision of the lesion during the same operation. The results were excellent. In one case a hematoma and brain swelling following embolization necessitated total removal immediately afterwards. In eight patients embolization was carried out in two or three stages, to achieve a gradual obliteration of the shunt and to diminish the risk of postoperative brain swelling. Nevertheless, in three of these patients, postoperative hemiplegia was seen, which, however, improved considerably over a 1-2 year period. Complete occlusion of the shunt was obtained in only two patients. Seven patients underwent single-stage embolization, which resulted in partial obliteration of the AVM in six of them. In two of these, this treatment had been proposed for the accompanying symptoms of seizures and ischemic attacks. In all but one case the epileptic seizures decreased or disappeared completely after embolization. One patient suffered intracerebral bleeding three months after partial obliteration. Mortality was zero. It is argued that an alteration of the cerebral circulation with subsequent hyperemia is the most important sequela of rapid obliteration of large AVMs. Some details concerning the structure of cerebral AVMs are discussed. PMID:3736906

van Alphen, H A

1986-01-01

282

[Laparoscopic surgical treatment of anorectal malformations].  

PubMed

Anorectal Malformations (ARM) include a wide spectrum of anomalies, ranging from anal and rectal agenesis (usually associated with a recto-urethral, rectovaginal or recto-vestibular fistula) to ano-cutaneous fistula. On the basis of studies on the anatomy of the muscular structures contained in the pelvic cavity and on the physiology of the mechanisms which regulate the continence, many different techniques have been performed to allow a surgical treatment for the ARMs and to obtain post-operative results as nearer as possible to normality, that is to an adequate colic motility and a defecation control. In 2000, a new surgical technique for high and intermediate ARMs has been introduced, the laparoscopically assisted ano-rectal pull-through (LAARP) according to Georgeson. At the Department of Pediatric Surgery, Bologna University, from 2000 to nowadays, we have treated with LAARP 7 cases of high ARMs, all male patients and with colostomy. The average age at operation was between 2 and 10 months. PMID:17533901

Lima, M; Antonellini, C; Ruggeri, G; Libri, M; Gargano, T; Mondardini, M C

2006-01-01

283

Changing spectrum of Budd-Chiari syndrome in India with special reference to non-surgical treatment  

PubMed Central

AIM: To evaluate patterns of obstruction, etiological spectrum and non-surgical treatment in patients with Budd-Chiari syndrome in India. METHODS: Forty-nine consecutive cases of Budd-Chiari syndrome (BCS) were prospectively evaluated. All patients with refractory ascites or deteriorating liver function were, depending on morphology of inferior vena cava (IVC) and/or hepatic vein (HV) obstruction, triaged for radiological intervention, in addition to anticoagulation therapy. Asymptomatic patients, patients with diuretic-responsive ascites and stable liver function, and patients unwilling for surgical intervention were treated symptomatically with anticoagulation. RESULTS: Mean duration of symptoms was 41.5 ± 11.2 (range = 1-240) mo. HV thrombosis (HVT) was present in 29 (59.1%), IVC thrombosis in eight (16.3%), membranous obstruction of IVC in two (4%) and both IVC-HV thrombosis in 10 (20.4%) cases. Of 35 cases tested for hypercoagulability, 27 (77.1%) were positive for one or more hypercoagulable states. Radiological intervention was technically successful in 37/38 (97.3%): IVC stenting in seven (18.9%), IVC balloon angioplasty in two (5.4%), combined IVC-HV stenting in two (5.4%), HV stenting in 11 (29.7%), transjugular intrahepatic portosystemic shunt (TIPS) in 13 (35.1%) and combined TIPS-IVC stenting in two (5.4%). Complications encountered in follow-up: death in five, re-stenosis of the stent in five (17.1%), hepatic encephalopathy in two and hepatocellular carcinoma in one patient. Of nine patients treated medically, two showed complete resolution of HVT. CONCLUSION: In our series, HVT was the predominant cause of BCS. In the last five years with the availability of sophisticated tests for hypercoagulability, etiologies were defined in 85.7% of cases. Non-surgical management was successful in most cases. PMID:18186568

Amarapurkar, Deepak N; Punamiya, Sundeep J; Patel, Nikhil D

2008-01-01

284

Rapid development of a hepatocellular carcinoma in isolated thrombosis of hepatic veins (classic Budd–Chiari syndrome): case report and review of literature  

PubMed Central

Budd–Chiari syndrome and membranous obstruction of the inferior vena cava frequently result in the development of mostly benign hepatic lesions. In cases of membranous obstruction of the inferior vena cava, which is prevalent mostly in the East, these lesions often progress to hepatocellular carcinoma. In contrast, malignant transformation has not yet been recognised in patients with isolated hepatic vein thrombosis. We report the case of a 37-year-old male Caucasian who presented with acute Budd–Chiari syndrome without involvement of the inferior vena cava. Despite porto-caval shunting, a hepatocellular carcinoma developed within several months. Three hepatic lesions were treated by radiofrequency thermal ablation until liver transplantation was performed. This report emphasises the possibility of malignant transformation of regenerative nodules in patients with disturbed hepatic perfusion in general. Physicians must be aware of this when assessing regenerative nodules, especially as no unambiguous predictors for the development of hepatocellular carcinoma have been identified so far. PMID:22125582

Walldorf, Jens; Tannapfel, Andrea; Holzhausen, Hans Jürgen; Wittekind, Christian; Seufferlein, Thomas; Settmacher, Utz; Fleig, Wolfgang E; Dollinger, Matthias M

2009-01-01

285

Acute Budd-Chiari syndrome with hepatic failure and obstruction of the inferior vena cava as presenting manifestations of hereditary protein C deficiency.  

PubMed Central

The protein C system is essential in limiting the activation of coagulation in vivo. We report on a 29 year old woman with Budd-Chiari syndrome and occlusion of the inferior vena cava who presented with acute liver failure. She was successfully treated with an emergency mesoatrial shunt. Eight months after surgery, she has no ascites and normal liver function. She had a low concentration of plasma protein C on admission to hospital and during the follow up. Protein C deficiency subsequently was found in her father and two sisters, who were asymptomatic. Hereditary protein C deficiency should be considered in patients with Budd-Chiari syndrome. Images Figure 1 Figure 2 PMID:2387522

Bourlière, M; Le Treut, Y P; Arnoux, D; Castellani, P; Bordigoni, L; Maillot, A; Antoni, M; Botta, D; Pol, B; Gauthier, A P

1990-01-01

286

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

SciTech Connect

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.

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

287

Long-term follow-up after successful transjugular intrahepatic portosystemic shunt placement in a pediatric patient with Budd-Chiari syndrome.  

PubMed

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. PMID:18756372

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

2008-01-01

288

Percutaneous endovascular creation of an inferior vena cava in a patient with caval agenesis, Budd-Chiari syndrome, and iliofemorocaval thrombosis.  

PubMed

A 29-year-old woman with acute iliofemorocaval thrombosis was discovered to have suprarenal caval agenesis with azygous continuation, hepatic congestion, and fibrosis as a result of chronic Budd-Chiari syndrome. Three staged procedures were performed: pharmacomechanical thrombolysis of acute thromboses, transfemoral liver biopsy and hemodynamic assessment, and percutaneous endovascular creation of a "neocava" lined with endografts. Symptomatic improvement and patency were maintained at 12-week follow-up. PMID:24365505

Haskal, Ziv J; Potosky, Darryn R; Twaddell, William S

2014-01-01

289

Epidemiology and natural history of arteriovenous malformations.  

PubMed

The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233

Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S

2001-01-01

290

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

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

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

2013-01-01

291

Classification of Arnold-Beltrami Flows and their Hidden Symmetries  

E-print Network

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...

Fre, Pietro

2015-01-01

292

Plasma Propulsion Testing Capabilities at Arnold Engineering Development Center  

NASA Technical Reports Server (NTRS)

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.

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

2007-01-01

293

The quantum realization of Arnold and Fibonacci image scrambling  

NASA Astrophysics Data System (ADS)

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.

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

2014-05-01

294

Local Model of Arteriovenous Malformation of the Human Brain  

NASA Astrophysics Data System (ADS)

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.

Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

2013-02-01

295

Anorectal Malformations Associated with Esophageal Atresia in Neonates  

PubMed Central

Purpose Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia. Methods Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted. Results The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems. Conclusion This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality. PMID:24010103

Byun, Shin Yun; Lim, Ryoung Kyoung; Park, Kyung Hee; Kim, Hae Young

2013-01-01

296

Neuroimaging of Dandy-Walker malformation: new concepts.  

PubMed

Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects. Hydrocephalus plays an important role in the development of symptoms and neurological outcome in patients with DWM, and the aim of surgical treatment is usually the control of hydrocephalus and the posterior fossa cyst. Imaging modalities, especially magnetic resonance imaging, are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Persistent Blake's cyst is seen as a retrocerebellar fluid collection with cerebrospinal fluid signal intensity and a median line communication with the fourth ventricle, commonly associated with hydrocephalus. Mega cisterna magna presents as an extraaxial fluid collection posteroinferior to an intact cerebellum. Retrocerebellar arachnoid cysts frequently compress the cerebellar hemispheres and the fourth ventricle. Patients with DWM show an enlarged posterior fossa filled with a cystic structure that communicates freely with the fourth ventricle and hypoplastic vermis. Comprehension of hindbrain embryology is of utmost importance for understanding the cerebellar malformations, including DWM, and other related entities. PMID:24132069

Correa, Gustavo Gumz; Amaral, Lázaro Faria; Vedolin, Leonardo Modesti

2011-12-01

297

Comparison of an animal model of arteriovenous malformation with human arteriovenous malformation.  

PubMed

This study assessed the blood flow and histological changes of an animal model of arteriovenous malformation (AVM) over 84 days in 71 rats, and compared the histological findings to 17 specimens of human AVM. Carotid-jugular fistula blood flow positively correlated with time. The maximum flow rate occurred at 42 days, at which time the nidus was considered mature and was histologically similar to human AVMs. Morphological similarities between the model and human AVM vessels included heterogeneously thickened walls, splitting of the elastic lamina, thickened endothelial layers, endothelial cushions, lack of tight junctions, loss of endothelial continuity, endothelial-subendothelial adherent junctions, and luminally directed filopodia. These findings support the theory that vascular changes in human AVMs are secondary to increased flow and provide a basis for using this model in studies of AVMs. PMID:19910197

Tu, Jian; Karunanayaka, Athula; Windsor, Apsara; Stoodley, Marcus A

2010-01-01

298

Cutaneous vascular malformation in a guinea pig (Cavia porcellus).  

PubMed

A skin lesion classified as a vascular malformation is reported in a young-adult, female guinea pig. The physical examination revealed a 3 x 2-cm irregularly shaped violaceous plaque located on the left caudal flank. The surface of the plaque was ulcerated and bled intermittently, resulting in fatal blood loss. On histology the mass consisted of variably sized vascular spaces filled with red blood cells and variable amounts of extramedullary haematopoietic cells, lined by well-differentiated endothelial cells often surrounded by one layer of spindle-shaped cells. Based on immunohistochemistry, the spindle cell population was confirmed to be smooth muscle cells and no proliferation of endothelial cells was found with the Ki67 proliferation marker. Histological and immunohistochemical findings were consistent with a vascular malformation. Classification of vascular malformations and potential treatments are discussed. To the authors' knowledge, this is the first reported case of a cutaneous vascular lesion in a guinea pig. PMID:14989706

Osofsky, Anna; De Cock, Hilde E V; Tell, Lisa A; Norris, Aimee J; White, Stephen D

2004-02-01

299

Spinal dysraphism: genetic relation to neural tube malformations.  

PubMed Central

The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column. Of 364 sibs of index patients, 9 had an encephaly and 6 spina bifida cystica, a pro-proportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly. It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations. PMID:794474

Carter, C O; Evans, K A; Till, K

1976-01-01

300

[Congenital malformations of the lung, the radiologist's point of view].  

PubMed

Congenital lung malformations include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. They may, however, be discovered later, incidentally or in connection with non-specific symptoms, sometimes severe. Knowledge of their radiological appearances is necessary for their detection. Proper technique and analysis of cross-sectional imaging, computed tomography and magnetic resonance imaging, allow a definitive diagnosis in most patients and pre-treatment evaluation of surgical cases. This review will describe the radiological aspects of congenital pulmonary malformations, especially those which may occur in late childhood or adult life. When present, alternative diagnoses will be discussed. A distinction will be made between anomalies originating from bronchopulmonary structures, such as bronchial atresia, bronchogenic cyst, congenital lobar overinflation, cystic adenomatoid malformation, and forms related to vascular anomalies (vascular rings, anomalous left pulmonary artery, pulmonary underdevelopment, proximal interruption of the pulmonary artery, pulmonary sequestration, scimitar syndrome). PMID:22742469

Berteloot, L; Bobbio, A; Millischer-Bellaïche, A-E; Lambot, K; Breton, S; Brunelle, F

2012-06-01

301

Management of scrotal arteriovenous malformation with transcatheter embolisation coils and percutaneous sclerotherapy under angiographic guidance.  

PubMed

Arteriovenous malformations of the scrotum are infrequent and are usually treated by a combination of endovascular embolisation and surgery. We present a case of scrotal arteriovenous malformation treated effectively by a combination of endovascular and direct percutaneous techniques. PMID:25492446

So, Wing Lung Alvin; Chaganti, Joga; Waugh, Richard; Ferguson, Richard J

2014-12-10

302

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 ...

303

Pulmonary arteriovenous malformations presenting as refractory heart failure  

PubMed Central

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

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

2014-01-01

304

Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)  

PubMed Central

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

Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

2013-01-01

305

Prenatal diagnosis of congenital renal and urinary tract malformations  

PubMed Central

Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified ­malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and ­requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through­out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

Hindryckx, A.; De Catte, L.

2011-01-01

306

Uncommon cavernous malformation of the optic chiasm: a case report  

PubMed Central

Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans. PMID:22892383

2012-01-01

307

Maternal smoking habits and congenital malformations: a population study.  

PubMed Central

Maternal smoking habits in 67 609 singleton pregnancies were examined. The overall incidence of congenital malformations was 2.8% in both non-smokers and smokers. On analysing congenital defects according to individual systems there was no significant difference in the incidence of malformations according to the number of cigarettes smoked, except for neural tube defects. Further analysis, taking social class into account, showed that neural tube defects were less common in non-smokers in social classes I and II. This study suggests that maternal smoking does not have teratogenic effects in the offspring, except in the case of neural tube defects, where the effect is at most modest. PMID:466337

Evans, D R; Newcombe, R G; Campbell, H

1979-01-01

308

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis  

PubMed Central

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of severe cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed.???Keywords: arteriovenous malformation; cystic fibrosis PMID:10435171

Ledson, M; Wahbi, Z; Harris, P; Walshaw, M

1999-01-01

309

Congenital bilateral perisylvian syndrome (CBPS): do concomitant esophageal malformations indicate a poor prognosis?  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early prenatal injury, characterised by a bad prognosis due to severe cortical disorganization. However, it can not be excluded that the association of CBPS and esophageal malformation is purely coincidental. PMID:11508551

Küker, W; Friese, S; Riethmüller, J; Krägeloh-Mann, I

2000-12-01

310

[Coexistence of pulmonary sequestration and congenital cystic adenomatoid malformation. Case report and review of literature].  

PubMed

This paper presents a case report of an infant, with a prenatally diagnosed congenital lung malformation, which proved to be pulmonary sequestration and congenital cystic adenomatoid malformation. The authors discuss current knowledge on diagnosis, clinical course and suggestions of ante- and postnatal management of patients with pulmonary sequestration or/and congenital cystic lung malformation. PMID:24964242

Sanocki, Marcin Tomasz; Dudek, Anna; Krenke, Katarzyna; Karolczak, Maciej; Motylewicz, Barbara; Kulus, Marek

2014-01-01

311

STATE OF CALIFORNIA --THE RESOURCES AGENCY Arnold Schwarzenegger, Governor CALIFORNIA ENERGY COMMISSION  

E-print Network

1 STATE OF CALIFORNIA -- THE RESOURCES AGENCY Arnold Schwarzenegger, Governor CALIFORNIA ENERGY COMMISSION 1516 Ninth Street Sacramento, California 95814 WEBSITES Main website: www.energy.ca.gov Children AT THE CALIFORNIA ENERGY COMMISSION The Commission The CEC is California's primary energy policy and planning agency

Kammen, Daniel M.

312

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

E-print Network

STATE OF CALIFORNIA ­ THE RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY Manufacturers of Major Home Appliances Dear Appliance Manufacturer: California is participating in the State), and will be administered within the state by the California Energy Commission. California is currently developing its

313

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

E-print Network

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

Barrett, Jeffrey A.

314

Books, Photos, & Videos providing complementary information to Song Yet Sung Special Collections: ARNOLD COLLECTION (Maryland History)  

E-print Network

: ARNOLD COLLECTION (Maryland History) Andrews, E.A.. Slavery and the domestic slavetrade in the United, Minister of the Protestant Episcopal Church in Maryland. Now republished with other tracts and dialogues, a black man, who lived forty years in Maryland, South Carolina and Georgia, as a slave .... Lewiston, PA

Maryland, Baltimore County, University of

315

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

E-print Network

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 Technology School of Public Health (http://sph.sc.edu), Department of Exercise Science. This endowed chair is one

Almor, Amit

316

Early Stage Soliton Observations in the Sulu Sea* ZACHARY D. TESSLER AND ARNOLD L. GORDON  

E-print Network

Early Stage Soliton Observations in the Sulu Sea* ZACHARY D. TESSLER AND ARNOLD L. GORDON Lamont internal waves, identified as solitons, at three locations. Solitary internal waves have since been of the soliton generation site near Pearl Bank in the Sulu Archipelago. From here, waves propagate toward

Gordon, Arnold L.

317

First numerical evidence of global Arnold diffusion in quasi--integrable systems  

E-print Network

We provide numerical evidence of global diffusion occurring in slightly perturbed integrable Hamiltonian systems and symplectic maps. We show that even if a system is sufficiently close to be integrable, global diffusion occurs on a set with peculiar topology, the so--called Arnold web, and is qualitatively different from Chirikov diffusion, occurring in more perturbed systems.

Massimiliano Guzzo; Elena Lega; Claude Froeschle'

2004-07-26

318

Laser Direct Writing of Hydrous Ruthenium Dioxide Micro-Pseudocapacitors Craig B. Arnold1  

E-print Network

Laser Direct Writing of Hydrous Ruthenium Dioxide Micro-Pseudocapacitors Craig B. Arnold1 , Ryan C. ABSTRACT We are using a laser engineering approach to develop and optimize hydrous ruthenium dioxide (Ru The manufacture of thin film hydrous ruthenium dioxide pseudocapacitors is generally considered difficult due

Arnold, Craig B.

319

The feasibility of reservoir monitoring using time-lapse marine CSEM Arnold Orange1  

E-print Network

The feasibility of reservoir monitoring using time-lapse marine CSEM Arnold Orange1 , Kerry Key1 , and Steven Constable1 ABSTRACT Monitoring changes in hydrocarbon reservoir geometry and pore-fluid properties- hibit small but measureable changes that are characteristic of reservoir-depletion geometry

Key, Kerry

320

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

E-print Network

is in preparation and will be pub- lished elsewhere. Somatic embryogenesis in pistil callus of basket willow (Salix if plants could be propagated via somatic embryogenesis. In order to facilitate identificationSomatic embryos from callus of Salix viminalis L. L. Grönroos, S. von Arnold T. Ericsson Department

Paris-Sud XI, Université de

321

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

E-print Network

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

Awanou, Gerard

322

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

ERIC Educational Resources Information Center

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

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

2005-01-01

323

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

ERIC Educational Resources Information Center

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…

Volkov, Boris B.

2011-01-01

324

STATE OF CALIFORNIA NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION  

E-print Network

95814 (916) 654-4631 #12;California Energy Commission Alternative and Renewable Fuel and VehicleSTATE OF CALIFORNIA ­ NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION 1516 NINTH STREET SACRAMENTO, CA 95814-5512 www.energy.ca.gov NOTICE OF NON AWARD PON-08

325

STATE OF CALIFORNIA NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION  

E-print Network

of 2009 Cost Share: Alternative and Renewable Fuel and Vehicle Technology Program." The Energy Commission (916) 654-4631 #12;l California Energy Commission Alternative and Renewable Fuel and Vehicle TechnologySTATE OF CALIFORNIA ­ NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY

326

STATE OF CALIFORNIA NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION  

E-print Network

STATE OF CALIFORNIA ­ NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY of this addendum is to make revisions to: · Section 10: Program Requirements · Section 11: Payment Timeframe Section 10, Program Requirements Add the following language to the end of Section 10 on Page 7

327

Synthesis of (-)-Morphine Douglass F. Taber,* Timothy D. Neubert, and Arnold L. Rheingold  

E-print Network

Synthesis of (-)-Morphine Douglass F. Taber,* Timothy D. Neubert, and Arnold L. Rheingold gave a single alcohol 21 (Scheme * To whom correspondence should be addressed. E-mail: taberdfI, MeOH, reflux; (c) Na, EtOH, reflux; (d) HCl, H2O, reflux; (e) (CH3O)2CO, NaOMe, MeOH, reflux; (f) LDA

Taber, Douglass

328

Layer-wise training of deep generative models Ludovic Arnold, Yann Ollivier  

E-print Network

Layer-wise training of deep generative models Ludovic Arnold, Yann Ollivier Abstract When using deep, multi-layered architectures to build generative models of data, it is difficult to train all layers at once. We propose a layer-wise training procedure admitting a performance guarantee compared

Ollivier, Yann

329

4.1.1.6 Quiet and slowly varying radio emissions Arnold O. Benz  

E-print Network

of the solar radio emission that is constant in time. As the quiet solar emission is the strongest source4.1.1.6 Quiet and slowly varying radio emissions of the sun Arnold O. Benz The solar atmosphere emits radio emission at all wavelengths and at all times. Its total flux density varies with magnetic

330

4.1.1.6 Radio emission of the Arnold O. Benz  

E-print Network

, it is the component of the solar radio emission that is constant in time. As the quiet solar emission is the strongest4.1.1.6 Radio emission of the quiet Sun Arnold O. Benz The solar atmosphere emits radio emission at all wavelengths and at all times. Its total flux density varies with magnetic activity as manifest

331

ENERGY DISTRIBUTION OF MICROEVENTS IN THE QUIET SOLAR CORONA Arnold O. Benz  

E-print Network

ENERGY DISTRIBUTION OF MICROEVENTS IN THE QUIET SOLAR CORONA Arnold O. Benz Institute of Astronomy of the pixels in quiet regions of the solar corona. The changes in coronal emission measure indicate impulsive can only come from observations of the corona. Of particular interest are time variations in coronal

332

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

ERIC Educational Resources Information Center

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…

Ramos, Francisco; Krashen, Stephen

2013-01-01

333

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

ERIC Educational Resources Information Center

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…

Banks, Alan

334

Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations  

Microsoft Academic Search

Hereditary hemorrhagic telangiectasia (HHT) is a heterogeneous disease that can present with a variety of clinical manifestations. The neurovascular complications of this disease, especially in children, may be potentially devastating. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 patients under the age of 16 were

T. Krings; S. M. Chng; A. Ozanne; H. Alvarez; G. Rodesch; P. L. Lasjaunias

2005-01-01

335

Anorectal malformations associated with a presacral tumor and sacral defect  

Microsoft Academic Search

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An

Yoshiaki Tsuchida; Watit Watanasupt; Toshio Nakajo

1989-01-01

336

The role of colostomy in the management of anorectal malformations  

Microsoft Academic Search

The role of the colostomy in the definitive correction of anorectal malformations is controversial with regard no only to indications for its use, but also to location and type. We reviewed the records of 272 patients with 307 colostomies and analyzed the frequency of complications related to these controversial points. There were 250 completely divided and 57 loop colostomies, constructed

Steven Wilkins; Alberto Pefia

1988-01-01

337

Macrocephaly-capillary malformation syndrome: three new cases.  

PubMed

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

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

2012-02-15

338

Surgical treatment of venous malformations in Klippel-Trénaunay syndrome  

Microsoft Academic Search

Purpose: Klippel-Trénaunay syndrome (KTS) is a complex congenital anomaly, characterized by varicosities and venous malformations (VMs) of one or more limbs, port-wine stains, and soft tissue and bone hypertrophy. Venous drainage is frequently abnormal because of embryonic veins, agenesis, hypoplasia, valvular incompetence, or aneurysms of deep veins. We previously reported on the surgical management of KTS. In this article, we

Audra A Noel; Peter Gloviczki; Kenneth J Cherry; Thom W Rooke; Anthony W Stanson; David J Driscoll

2000-01-01

339

Congenital Malformations and Birthweight in Areas with Potential Environmental Contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris

1992-01-01

340

Congenital malformations and birthweight in areas with potential environmental contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins

2009-01-01

341

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation  

PubMed Central

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

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

2005-01-01

342

LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE  

EPA Science Inventory

C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...

343

Magnetic resonance imaging in the malformative syndromes with mental retardation  

Microsoft Academic Search

We reported on thirteen children affected with malformative syndromes associated with mental retardation. MRI examination showed in all of them different types of anomalies; agenesis of corpus callosum, ventricular dilatation and cerebral matter alterations were the most frequent findings. The authors give a brief description of the clinical reports and of the anomalies observed with MRI; they conclude that MRI

O. Gabrielli; U. Salvolini; G. V. Coppa; C. Catassi; R. Rossi; A. Manca; R. Lanza; P. L. Giorgi

1990-01-01

344

Polymicrogyria: a common and heterogeneous malformation of cortical development.  

PubMed

Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. PMID:24888723

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

345

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation  

E-print Network

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation in the Sultanate of Oman in the beginning of 2005 in plantations at Sohar in the Sultanate of Oman. The affected inflorescences were factor 1 . -tubulin Mango (Mangifera indica) is an important perennial crop in the Sultanate of Oman

346

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

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…

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

347

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

PubMed

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

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-04-01

348

Radiological anatomy of the vascularization of cranial dural arteriovenous malformations  

Microsoft Academic Search

Summary Knowledge of the radiological anatomy of the cranial durai vascularization allows a flexible and appropriate approach to the pretherapeutic investigation of cranial durai arteriovenous malformations. The variability of the origin of these arteries requires that several possible sources of vascular supply be investigated — internal carotid, internal maxillary, ascending pharyngeal, occipital and vertebral — and that each of their

P. Lasjaunias; L. Lopez-Ibor; A. Abanou; Ph. Halimi

1984-01-01

349

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

PubMed

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

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

1992-02-01

350

Recurrent Arteriovenous Malformation of the Scrotum Secondary to Pelvic Trauma  

Microsoft Academic Search

We describe a case of recurrent scrotal arteriovenous malformation (AVM) in a young man secondary to pelvic fracture sustained during a road traffic accident. This was diagnosed as a lipoma on the ultrasound and clinical examination. To our knowledge, this is the first reported case of recurrent scrotal AVM secondary to trauma.

Vineet Agrawal; Pankaj Dangle; Suks Minhas; David Ralph; Nim Christopher

2006-01-01

351

Rolandic arteriovenous malformations: improvement in limb function by IBC embolization.  

PubMed

Three patients with arteriovenous malformations in the rolandic region and significant limb deficit showed virtually complete functional recovery after awake operative embolization of most of the malformations using isobutyl-2 cyanoacrylate. Two of these patients, with functionally useless hands, had sustained the deficits months earlier as the result of a specific brain-damaging event: one as a result of surgery and the other as a result of a hemorrhage. Both of these showed significant return of function during the awake operative embolization procedure. The other patient had had progressive leg weakness over a 2 year period. The theory of steal phenomenon as an explanation for progressive neurologic deficits in association with large arteriovenous malformations must be extended to explain apparently stable deficits after some brain trauma (surgery or hemorrhage). These results suggest that some patients with arteriovenous malformations and without clinical deficits who are near a critical level of "near ischemia" may be thrown out of balance by an acute interceding event. PMID:3927674

Fox, A J; Girvin, J P; Viñuela, F; Drake, C G

1985-01-01

352

Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

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.

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

353

ASAP Newsletter  

MedlinePLUS

... ASAP publication for people and families affected by Chiari, syringomyelia, related disorders as well as health care ... A Support Group Register Your Support Group Conditions Chiari Malformation Syringomyelia Medical Articles Related Disorders Patient Handbook ...

354

cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations  

PubMed Central

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

355

Selection of treatment modalities for Budd-Chiari Syndrome in China: A preliminary survey of published literature  

PubMed Central

AIM: To evaluate the frequency of use of various treatment modalities for Budd-Chiari syndrome (BCS) in China by conducting a preliminary survey of relevant literature. METHODS: All papers regarding the treatment of BCS in Chinese patients were identified by searching PubMed, Chinese Scientific and Technological Journal, and China National Knowledge Infrastructure databases. Data regarding the number of BCS patients treated with different treatment modalities over time were collected. The proportions of BCS patients undergoing various treatment modalities were calculated. RESULTS: Overall, 300 of 3005 papers initially retrieved were included. These papers included 23352 BCS patients treated with different treatment modalities. The treatment modalities include surgery (n = 8625), interventional treatment (n = 13940), surgery combined with interventional treatment (n = 363), medical therapy (n = 277), other treatments (n = 91), and no treatment (n = 56). After 2005, the number of BCS patients treated with surgery was drastically decreased, but the number of BCS patients who underwent interventional treatment was almost maintained. Shunt surgery was the most common type of surgery (n = 3610). Liver transplantation was rarely employed (n = 2). Balloon angioplasty with or without stenting was the most common type of interventional treatment (n = 13747). Transjugular intrahepatic portosystemic shunt was rarely employed (n = 81). CONCLUSION: Selection of treatment modalities for BCS might be different between China and Western countries. Further work should be necessary to establish a unanimous therapeutic strategy for BCS in China. PMID:25132785

Qi, Xing-Shun; Ren, Wei-Rong; Fan, Dai-Ming; Han, Guo-Hong

2014-01-01

356

Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study  

SciTech Connect

Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

Lv, Ming-ming, E-mail: lvmingming001@163.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: fanxindong@yahoo.com.cn [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: sulixin1975@126.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)

2013-10-15

357

Transjugular intrahepatic portocaval shunt placed through the strut of an inferior vena cava stent in a patient with Budd-Chiari syndrome: a technical modification.  

PubMed

Transjugular intrahepatic portocaval shunt (TIPS) is performed in patients with symptomatic Budd-Chiari syndrome (BCS) who do not have repairable hepatic veins. We report the case of a patient who had an inferior vena cava (IVC) stent placed previously as part of the management for BCS, and who subsequently required TIPS. The TIPS tract was created through the strut of the previously placed IVC stent; the TIPS stent was placed after dilatation of the liver parenchyma as well as the strut of the IVC stent. This novel technique of "strutplasty" of a previously placed stent as part of TIPS has not been reported in the literature. PMID:20139245

Surendrababu, N R S; Keshava, S N; Eapen, C E; Zachariah, U G

2010-01-01

358

[Isolated cervicothoracic spinal amyotrophy caused by hydromyelia. Stabilization by a ventricular shunt].  

PubMed

A 25-year-old man developed marked weakness of the upper limbs and shoulder girdle over a period of 6 months. On examination there was amyotrophy, fasciculations and areflexia of the upper limbs with increased lower limb reflexes. Sensation and CSF were normal. CT scan showed a thickened cord with a central medullary cavity of triangular shape with a ventral base. Myelobulbography showed a type I Arnold-Chiari malformation. Spinal angiography was normal. Isotopic studies showed early ventricular reflux. Although infusion tests gave negative results a ventriculoperitoneal shunt was performed and the condition stabilized. Follow-up examination 4 years later confirmed the absence of sensory disorders and nervous arthropathies. The mechanism of production of cervical cord lesions during hydromyelia may be related to hydrocephalus, with fluid absorption across the ependymal walls, or to venous stasis determined by the Arnold-Chiari malformation. The ventral extension of the central cord cavity accounted for the isolated atypical lesion of the anterior horns. PMID:6710016

Petit, H; Rousseaux, M; Gozet, G; Mazingue, M

1984-01-01

359

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

NASA Technical Reports Server (NTRS)

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

Stamp, Andrew P.; Dowling, Timothy E.

1993-01-01

360

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.  

PubMed

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

2012-08-01

361

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment  

PubMed Central

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.

Mouchtouris, Nikolaos; Chitale, Ameet; Starke, Robert M.; Tjoumakaris, Stavropoula I.; Rosenwasser, Robert H.; Jabbour, Pascal M.

2015-01-01

362

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

2011-01-01

363

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation  

PubMed Central

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

2012-01-01

364

[Iliac vessels malformations as a cause of gluteal varices].  

PubMed

Gluteal varices are caused by different malformations (congenital or other disorders) within pelvic vessels. They are usually congenital, rarely acquired disorders. The rarity of incidence, diagnostic difficulties and sometimes ineffective methods of treatment made the authors of this article to present a case of 51-year-old patient with hemorrhoids with concomitant left gluteal varices caused by internal iliac artery-vein fistula. PMID:18175563

Rudnicki, Piotr; Mazur, Ireneusz; Sosada, Krystyn; Koz?owski, Andrzej; Jopek, Janusz; Sitkiewicz, Tomasz

2007-01-01

365

Characteristics influencing informed consent on a congenital malformations registry.  

PubMed Central

Maryland law requires that all babies born with "sentinel birth defects" be reported to the State Department of Health, but mothers may deny consent for further contact. Consent was not strongly related to maternal age, race, or self-reported data on exposures, smoking, and drugs but was much less likely if the infant was dead. Selection bias in congenital malformations research may lead to underrepresentation of lethal defects, but self-reported data appear to be unbiased. PMID:3354744

Law, C; Robertson, M O; Panny, S R; Wulff, L M

1988-01-01

366

Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities  

Microsoft Academic Search

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

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

1993-01-01

367

An interesting finding in a congenital cystic adenomatoid malformation.  

PubMed

Here we describe a case of antenatally diagnosed congenital cystic adenomatoid malformation. Due to increasing cyst size and fetal hydrops an antenatal drain was inserted. The lesion was excised surgically soon after birth due to significant respiratory distress. During histological assessment an area of squamous metaplasia was found within the cyst wall. This developed as a result of the drain placement. At 4-year follow-up the child remains well and has experienced no long-term respiratory sequalae. PMID:23093507

Jones, Katherine Elizabeth; Teo, Ying; Lakhoo, Kokila

2012-01-01

368

Congestive hepatopathy secondary to large renal arteriovenous malformation  

PubMed Central

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

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

2013-01-01

369

[Medication-based therapy of infantile hemangioma and lymphatic malformations].  

PubMed

The therapy of vascular tumors and malformations should be interdisciplinary and performed according to available guidelines. Infantile hemangiomas (IH) are the most frequent vascular tumors of childhood and do not require treatment in most cases. If the IH is complicated by its location (e.g. facial or genital) or if the lesion threatens to cause loss of function, small localized IH should be treated by laser- or cryotherapy. If the IH is diffuse or rapidly growing it can be successfully treated using the ? blocker propranolol. The mechanism underlying the efficacy of this medication-based therapy is not completely understood and this still represents an experimental therapy. The results of molecular studies on vascular malformations have indicated new strategies for medical therapies. However, lymphatic malformations (LM) are still treated by surgery where possible, or sclerotherapy. Further investigations are necessary to determine whether new drugs such as the mTOR inhibitor rapamycin may be effective for treatment of diffuse LM. First case reports seem to be promising. PMID:24434958

Rössler, J; Braunschweiger, F; Schill, T

2014-01-01

370

Guidelines for the treatment of head and neck venous malformations  

PubMed Central

Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

2013-01-01

371

Prenatal diagnosis of lethal fetal malformation in Irish obstetric practice.  

PubMed

The diagnosis of lethal fetal malformation prenatally has profound implications for the pregnancy, the expectant couple and the medical care provided. The aim of this study was to investigate these implications and the medical factors pertaining to prenatal diagnosis of lethal fetal abnormality in current obstetric practice in Ireland. Data was collected prospectively from all cases of lethal fetal malformation diagnosed at the Fetal Medicine Unit, University College Hospital Galway from December 1997 to June 1998 inclusive. Diagnosis was made on the basis of ultrasound findings and invasive procedures (amniocentesis and chorionic villus sampling). Thirteen cases of lethal fetal abnormality were diagnosed: Edward's syndrome, Patau's syndrome, bilateral multicystic renal dysplasia, Potters sequence, hypoplastic left heart, anencephaly with craniorrhachischisis, lethal osteogenesis imperfecta and non-immune hydrops. Intrauterine death occurred in four cases. Four women had preterm complications e.g. preterm premature rupture of membranes, preterm labour, placental abruption, coagulopathy and severe pre-eclampsia. Three pregnancies progressed to term, two of which had a vaginal delivery and one had an elective caesarean section for malpresentation, all of which were early neonatal deaths. Three women chose to travel abroad in order to obtain a termination of pregnancy. Obstetric and neonatal dilemmas in management of lethal fetal malformation are discussed. PMID:10360111

Byrne, B M; Morrison, J J

1999-03-01

372

The malformations of the urinary system in autosomal disorders.  

PubMed

Data from the world literature about the pathology of the urinary system in autosomal chromosomal disorders are analyzed and compared with our own morphological investigations of this system in 63 cases of chromosomal disorders (Patau's, Edwards', Down's, Orbeli's, Wolf-Hirschhorn's syndromes, partial trisomy B and inversion of chromosome 2). The urinary system is most frequently involved in "cat-eye", triploidy, Orbeli's, Patau's and Edwards' syndromes. All known malformations of the urinary system are observed in children with chromosomal diseases, except infantile polycystic kidney and medullary "sponge" kidney. The authors recognize specific and nonspecific abnormalities of the urinary system. Nonspecific abnormalities, as simple renal dysgenesis, may be observed in all chromosomal disorders. Specific abnormalities are found only in certain chromosomal diseases. These malformations are an excess of embryonal lobulation of the kidney with the increase of its weight and cystic changes (Patau's syndrome), crossed renal ectopy with fusion and horseshoe kidney (Edwards' syndrome), unilateral renal agenesis (Orbeli's syndrome), hypospadia (Wolf-Hirschhorn's syndrome). A possible pathogenesis of malformations of the urinary system in chromosomal disorders is discussed. PMID:127413

Kravtzova, G I; Lazjuk, G I; Lurie, I W

1975-10-20

373

Computational modelling for the embolization of brain arteriovenous malformations.  

PubMed

Treatment of arteriovenous malformations (AVMs) of the brain often requires the injection of a liquid embolic material to reduce blood flow through the malformation. The type of the liquid and the location of injection have to be carefully planned in a pre-operative manner. We introduce a new model of the interaction of liquid embolic materials with blood for the simulation of their propagation and solidification in the AVM. Solidification is mimicked by an increase of the material's viscosity. Propagation is modelled by using the concept of two-fluids modelling and that of scalar transport. The method is tested on digital phantoms and on one anatomically derived patient AVM case. Simulations showed that intuitive behaviour of the two-fluid system can be confirmed and that two types of glue propagation through the malformation can be reproduced. Distinction between the two types of propagation could be used to identify fistulous and plexiform compartments composing the AVM and to characterize the solidification of the embolic material in them. PMID:22056793

Orlowski, Piotr; Summers, Paul; Noble, J Alison; Byrne, James; Ventikos, Yiannis

2012-09-01

374

Maternal smoking and congenital malformations: an epidemiological study.  

PubMed Central

In a case-control study undertaken in several hospitals in Connecticut, it was found that women who reported smoking more than 20 cigarettes a day during pregnancy had a relative risk of about 1.6 for congenital malformations in the offspring of that pregnancy compared with women who said they had not smoked at all during pregnancy. However, there was no significant increase in risk among women who reported smoking 20 or fewer cigarettes a day during pregnancy compared with those who said they had not smoked at all during pregnancy. The higher risk among moderate and heavy smokers could not be attributed to any of the potentially confounding variables considered in this study; furthermore, it was specific to smoking during pregnancy rather than before pregnancy, and increased with the average amount smoked a day. Nevertheless, because the increase in risk was modest, because response bias could exist in a study of this type, and because no other studies have examined in detail the smoking-congenital malformation hypothesis, further research is needed to determine whether the relationship between maternal smoking and congenital malformations in offspring is causal. PMID:355285

Kelsey, J L; Dwyer, T; Holford, T R; Bracken, M B

1978-01-01

375

Arnol'd Nonlinear Stability Theorems and their Application to the Atmosphere and Oceans  

Microsoft Academic Search

Within the context of atmospheric and oceanic fluid dynamicsthe problems of nonlinear stability and instability, particularlythe Arnol'd second type nonlinear stability, are surveyed.The stability criteria obtained by means of the energy-Casimirand energy-Lagrange methods are presented for a varietyof models, the estimates for various generalized perturbationenergy and enstrophy are given. Potential applications of thesecriteria are shown in the estimation of bounds

Mu Mu; Yong-Hui Wu

2001-01-01

376

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

E-print Network

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

Terasaki, Mark

377

Bill malformations in double-crested cormorants with low exposure to organochlorines  

SciTech Connect

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.

Kuiken, T.; Fox, G.A.; Danesik, K.L.

1999-12-01

378

Aortic Runoff as a Sign of Intracranial Arteriovenous Malformation: Report of Two Cases  

PubMed Central

Background Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. Case Presentation We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease. Conclusion Precise echocardiography revealed the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis. PMID:23724190

Moradian, Maryam; Nokhostin-Davari, Paridokht; Merajie, Mahmood; Pouraliakbar, Hamid-Reza

2013-01-01

379

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis.  

PubMed

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of sever cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed. PMID:10435171

Ledson, M J; Wahbi, Z; Harris, P; Walshaw, M J

1999-06-01

380

Primary intra osseous venous malformation of nasal bone: A rare case report  

PubMed Central

Primary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

Pati, Ajit Kumar; Nayak, Bibhuti Bhusan; Choudhury, Arun Kumar; Rout, Debesh Kumar

2014-01-01

381

Translation of the V. I. Arnold paper "From Superpositions to KAM Theory" (Vladimir Igorevich Arnold. Selected — 60, Moscow: PHASIS, 1997, pp. 727-740)  

NASA Astrophysics Data System (ADS)

V. I. Arnold (12 June 1937-3 June 2010) published several papers where he described, in the form of recollections, his two earliest research problems (superpositions of continuous functions and quasi-periodic motions in dynamical systems), the main results and their interrelations: [A1], then [A2] (reprinted as [A4, A6]), and [A3] (translated into English by the author as [A5]). The first exposition [A1] has never been translated into English; however, it contains many details absent in the subsequent articles. It seems therefore that publishing the English translation of the paper [A1] would not be superfluous. What follows is this translation. In many cases, the translator gives complete bibliographic descriptions of various papers mentioned briefly in the original Russian text. The English translations of papers in Russian are also pointed out where possible. A related material is contained also in Arnold's recollections "On A.N. Kolmogorov". Slightly different versions of these reminiscences were published several times in Russian and English [A7-A12]. The early history of KAM theory is also discussed in detail in the recent brilliant semi-popular book [A13].

Sevryuk, Mikhail B.

2014-11-01

382

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

PubMed Central

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

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

2014-01-01

383

Symptoms of Sleep Disordered Breathing in Children with Craniofacial Malformations  

PubMed Central

Study Objective: The purpose of this study was to investigate the frequency of sleep disordered breathing (SDB) symptoms in a clinical sample of children with congenital craniofacial malformations (CFM) followed at a tertiary medical center and non-selected for sleep problems. Methods: Cross-sectional study of 575 children aged 2-18 years followed at the Craniofacial Anomalies Program between March 2007 and May 2011. The Sleep-Related Breathing Disturbance scale of the Pediatric Sleep Questionnaire was used to screen for SDB, snoring, and sleepiness. A cutoff value ? 0.33 of the total answered questions identified children with positive screening for SDB symptoms. Results: Overall, 25% of children screened positive for SDB, 28% for snoring, and 20% for sleepiness. In children with non-syndromic CFM, those with Robin sequence had the highest frequency of SDB, snoring, and sleepiness (43%, 44%, and 38%, respectively). In children with syndromic CFM, velocardiofacial/ DiGeorge syndrome had the highest frequency of SDB and sleepiness (48% and 43%, respectively). Children with Treacher Collins had the highest frequency of snoring (83%). The presence of cleft palate was not associated with an increased frequency of SDB symptoms. Nevertheless, children with syndromic CFM, compared to those with non-syndromic CFM, had a higher SDB score (0.27 ± 0.21 vs.0.21 ± 0.19, p = 0.003) and were more likely to have sleepiness (26% vs. 18%, p = 0.05). Conclusions: Congenital craniofacial malformations in children are associated with high risk for SDB symptoms. Our findings should encourage a high index of suspicion for SDB in children with CFM, with a low threshold for further testing and close follow-up. Citation: Moraleda-Cibrián M; Edwards SP; Kasten SJ; Berger M; Buchman SR; O'Brien LM. Symptoms of sleep disordered breathing in children with craniofacial malformations. J Clin Sleep Med 2014;10(3):307-312. PMID:24634629

Moraleda-Cibrián, Marta; Edwards, Sean P.; Kasten, Steven J.; Berger, Mary; Buchman, Steven R.; O'Brien, Louise M.

2014-01-01

384

Biamnial alpha fetoprotein concentration in twins, one with multiple malformations.  

PubMed Central

In the 18th week of pregnancy in a 22 year old patient, twins were diagnosed by ultrasound. It was found that one twin had an abnormal skull outline and an echo-free area covered by a thin membrane in the region of the abdomen. The second embryo showed no sign of malformation. Amniocentesis was performed and the AFP in both samples of amniotic fluid were in the pathological range. Our own observations with indirect immunofluorescence confirmed that one twin with defects leading to abnormally high AFP levels can cause pathological AFP levels in the amniotic sac of a healthy twin. Images PMID:6209397

Huber, J; Wagenbichler, P; Bartsch, F

1984-01-01

385

Sonohysterography is a useful diagnostic approach for uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is a rare cause of abnormal uterine bleeding; nevertheless, it is a potentially life-threatening condition when the diagnosis is not made. We report a case of uterine AVM with a secondary uterine hematoma diagnosed 2 weeks after curettage due to spontaneous abortion. Ultrasound examination revealed a mixed echogenic mass of approximately 4 cm × 1.5 cm with no blood flow and an additional contiguous heterogeneous mass with turbulent blood flow depicted by color Doppler. Transvaginal sonohysterography enabled us to exclude residual chorionic tissues and to make precise diagnosis of uterine AVM with a secondary hematoma. PMID:24888955

Mishina, Miyuki; Hasegawa, Junichi; Nakamura, Masamitsu; Ichizuka, Kiyotake; Sekizawa, Akihiko; Okai, Takashi

2014-06-01

386

An Unusual Left Upper Quadrant Mass: A Bronchopulmonary Foregut Malformation  

PubMed Central

We report a case of a lady who presented with epigastric discomfort. Physical examination revealed a large left upper quadrant mass filling the left upper quadrant. Following extensive preoperative evaluation, she underwent resection of this 9 × 10 × 11 centimeter mass with en bloc excision of a portion of the left hemidiaphragm. She made an uneventful postoperative recovery. Histopathology revealed a bronchopulmonary foregut malformation with pulmonary sequestration. This developmental anomaly of the foregut typically occurs in the thoracic cavity; however, it can occur below the diaphragm. Herein we report a case and a detailed review of the embryology, clinical features, and management of these extremely rare clinical entities. PMID:23533917

McDermott, R. L.; Kavanagh, D. O.; Bartosik, W.; Quinn, C.; O'Connell, P. R.

2013-01-01

387

Pediatric postcricoid vascular malformation: a diagnostic and treatment challenge.  

PubMed

Hemangioma of the upper aerodigestive tract is a rarely reported occurrence in the pediatric literature. To date, there have been three published case reports of postcricoid hemangiomas contributing to unexplained dysphagia and respiratory distress. We present three children with a history of swallowing difficulty and stridor who were found to have an occult postcricoid mass. Valsalva maneuvers confirmed the suspicion of a vascular malformation in both patients. Transoral laser therapy (KTP and CO2) was used to ablate the lesions. The patients are symptom-free at 5 months, 5 years, and 2 weeks, respectively. The diagnostic challenge in evaluating these children and the therapeutic choices are described. PMID:15961166

Zur, Karen B; Wood, Robert E; Elluru, Ravindhra G

2005-12-01

388

[Anesthetic management of a neonate with congenital cystic adenomatoid malformation].  

PubMed

We report the anesthetic management of a female neonate with congenital cyst adenoid malformation (CCAM) type III of the lung who underwent the lower right lobe resection 22 days after birth. General anesthesia was induced with propofol and rocuronium. The trachea was intubated with a 3.0 standard tube. Anesthesia was maintained with sevoflurane in an air/oxygen mixture and fentanyl. Intraoperative anesthetic course was uneventful except transient desaturation during lung compression. Immediately, the saturation was restored by interruption of lung compression. One lung ventilation was not necessary in this operation. Postoperative course was uneventful. Patient was discharged home on the 28th postoperative day. PMID:24558943

Tominaga, Hiroki; Hatori, Eiki; Takeda, Junzo; Morisaki, Hiroshi

2014-01-01

389

[Some features of the nose in craniofacial malformations].  

PubMed

In craniofacial malformations, the nose is variably affected: in its location, its shape or by lack of development. In this short chapter, some of the common problems encountered by the specialized teams are summarized. Craniofacial astronomies can modify the skeleton of the nose during growth, sometime at an early age. However, most rhinoplasties are performed at adulthood. The nasal pyramid may present deformations that produce functional and aesthetics impairment that should be treated when necessary. Respiratory problems should be recognized as early as possible and treated in priority. PMID:25303936

Arnaud, E

2014-12-01

390

Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation  

PubMed Central

BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.?METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation diagnosed antenatally as pulmonary malformation is presented and the indications for surgical intervention are discussed.?RESULTS—In five infants in whom an antenatal ultrasound scan had detected a congenital lung malformation at 18-19 weeks gestation a final diagnosis of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation was made postnatally. Postnatal ultrasound and computerised axial tomographic scans confirmed the diagnosis of sequestration by delineating anomalous vascular supply. Cystic changes were also observed in the basal area of the sequestration in all patients. Four children remained asymptomatic and one infant presented at 10 months of age with pneumonia. The mean age at surgical resection was 6.8 months (range 2-10). Histopathological examination confirmed intralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in two patients and extralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in three patients. The mean period of follow up was four years (range 1-8). The children remain well and are developing normally.?CONCLUSIONS—The importance of seeking an anomalous blood supply in children with congenital lung lesions is emphasised. Pulmonary sequestration and congenital cystic adenomatoid malformation probably share a common embryogenesis despite diverse morphology. The natural history of antenatally diagnosed lung masses is variable. Early postnatal surgical resection of pulmonary sequestration with cystic adenomatoid malformation is recommended. Surgical excision should be conservative, sparing the normal lung parenchyma.?? PMID:10413723

Samuel, M.; Burge, D.

1999-01-01

391

Arnol'd diffusion in a system with 2.5 degrees of freedom: Classical and quantum mechanical approaches  

SciTech Connect

Arnol'd diffusion, a universal phenomenon in nonlinear dynamics, is analyzed for a model system with 2.5 degrees of freedom. Only the three primary order resonances are taken into account, and the results obtained by using classical and quantum mechanical approaches are compared. It is shown that the parameter dependence of the rate of quantum Arnol'd diffusion is similar to the classical one, but the quantum diffusion coefficient is smaller by approximately an order of magnitude. It is found that the existence of a threshold with respect to perturbation parameters, pointed out earlier, is not an indispensable feature of quantum Arnol'd diffusion. It is shown that a quantum system with weakly overlapping resonances can exhibit mixed dynamics that has no classical counterpart (diffusion along a resonance superimposed by oscillations across the overlapped resonances).

Malyshev, A. I., E-mail: malyshev@phys.unn.ru; Chizhova, L. A. [Nizhni Novgorod State University (Russian Federation)

2010-05-15

392

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

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

Dyer, Bill

393

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

PubMed Central

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

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

2009-01-01

394

COMPARING THE EFFECTS OF RETINOIC ACID ON AMPHIBIAN LIMB DEVELOPMENT AND LETHALITY: CHRONIC EXPOSURE RESULTS IN LETHALITY NOT LIMB MALFORMATIONS  

EPA Science Inventory

Recently, high frequencies of malformations have been reported in amphibians across the United States. It has been suggested that the malformations may be the result of xenobiotic disruption of retinoid signaling pathways during embryogenesis and tadpole development. Therefore, a...

395

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

Microsoft Academic Search

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

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

2006-01-01

396

Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by discrete venous malformations of varying size and appearance that are present on the skin and within the gastrointestinal tract. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. A serious complication is gastrointestinal bleeding. Because venous malformations were described historically as cavernous hemangiomas,

Walter K Nahm; Sharon Moise; Lawrence F Eichenfield; Amy S Paller; Laura Nathanson; Denise M Malicki; Sheila Fallon Friedlander

2004-01-01

397

MALFORMATION, MORTALITY AND PARASITES IN NORTHERN LEOPARD FROGS IN MN AND ND.  

Technology Transfer Automated Retrieval System (TEKTRAN)

In 2000 a field study compared the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)lake sites, one site with history of high incidence of malformations (CWB)and one with low incidence (BUT). Tadpoles were reared in enclosures ...

398

MALFORMATION VERSUS MORTALITY, A STUDY OF NORTHERN LEOPARD FROG DEVELOPMENT IN SITU.  

Technology Transfer Automated Retrieval System (TEKTRAN)

Field studies were designed to compare the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)Lake sites. Site selection was based on survey data that indicated one site had a high incidence of malformations (CWB) versus low inci...

399

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

SciTech Connect

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.

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

400

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

Microsoft Academic Search

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

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

1992-01-01

401

Uterine arteriovenous malformation successfully embolized with a liquid polymer, isobutyl 2-cyanoacrylate.  

PubMed

A uterine arteriovenous malformation was diagnosed angiographically in a 27-year-old woman presenting with recurrent menometrorrhagia. Bilateral hypogastric artery embolization with a liquid polymer, isobutyl 2-cyanoacrylate (Bucrylate), resulted in subsequent normal menses. Bucrylate offers a number of advantages over other agents previously used to embolize uterine arteriovenous malformations. PMID:3752185

Markoff, G; Quagliarello, J; Rosen, R J; Beckman, E M

1986-09-01

402

Embolization of intracranial arteriovenous malformations and fistulas with polyvinyl alcohol particles and platinum fibre coils  

Microsoft Academic Search

In order to reduce the recanalization rate of arteriovenous malformations and multiple dural arteriovenous fistulas, embolization was carried out with polyvinyl alcohol (PVA) particles combined with platinum fibre coils in 20 patients. The malformation was occluded more effectively than by PVA alone. Distal deposition of the emboli was obtained by improved steerable catheters (Tracker-18-unibody) and guidewires. The complication rate was

P. H. Nakstad; S. J. Bakke; J. K. Hald

1992-01-01

403

Mediastinal venous vascular malformations: report of two cases, with discussion of imaging findings and classification systems.  

PubMed

Mediastinal vascular malformations are interesting group of disorders, which are rarely seen in clinical practice. In this case report, we discuss two cases of venous vascular malformations in the anterior and posterior mediastinum. Also, we discuss the findings on cross-sectional imaging and review the classification schemes of these lesions. PMID:24393540

Robert, Andres; Raymond, Daniel; Bolen, Michael; Renapurkar, Rahul

2014-01-01

404

Congenital malformations after the use of inhaled budesonide in early pregnancy  

Microsoft Academic Search

Objective: To study possible teratogenic risks with the use of an inhaled glucocorticoid, budesonide, in early pregnancy.Methods: Using the Swedish Medical Birth Registry, congenital malformations were studied in 2014 infants whose mothers had used inhaled budesonide for asthma in early pregnancy. The presence of congenital malformations was checked further with auxilliary registries.Results: No increase in the general rate of congenital

Bengt Källén; Hakan Rydhstroem; Anders Åberg

1999-01-01

405

The diagnostic yield of rescreening for arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.  

PubMed

The diagnostic yield of rescreening children with hereditary hemorrhagic telangiectasia at regular intervals for arteriovenous malformations is unclear. Here, we show that when children with initially negative screening were reassessed after 5 years, no new arteriovenous malformations were detected suggesting that longer intervals between screenings may be adequate. PMID:24797954

Latino, Giuseppe A; Al-Saleh, Suhail; Carpenter, Susan; Ratjen, Felix

2014-07-01

406

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations  

PubMed Central

Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

2013-01-01

407

Cardiovascular malformations and organic solvent exposure during pregnancy in Finland  

SciTech Connect

In order to investigate the possible association between cardiovascular malformations and maternal exposure to organic solvents during the first trimester of pregnancy, 569 cases and 1,052 controls were retrospectively studied. The cases represented all infants with diagnosed cardiovascular malformations born in Finland in 1982-1984, and the controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife using a structured questionnaire. Exposures to organic solvents at work during the first trimester of pregnancy were slightly more prevalent among the mothers of affected infants (10.4%) than among those of controls (7.8%). Logistic regression analysis of exposure to organic solvents showed an adjusted relative odds ratio of 1.3 (95% confidence interval, 0.8-2.2). In the analysis of ventricular septal defect, exposure to organic solvents showed an adjusted relative odds ratio of 1.5 (95% confidence interval, 1.0-3.7).

Tikkanen, J.; Heinonen, O.P.

1988-01-01

408

CHARGE association in Sweden: malformations and functional deficits.  

PubMed

CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

2005-03-15

409

Antenatal and postnatal management of congenital cystic adenomatoid malformation.  

PubMed

Congenital thoracic malformations (CTMs) are a heterogeneous group of rare disorders that may involve the airways or lung parenchyma. The authors have focused on the condition that causes the most controversy, namely, congenital cystic adenomatoid malformation (CCAM). The reported incidence is 3.5 and 0.94 per 10,000 live births for CTMs and CCAMs respectively. Ultrasound is the antenatal imaging modality of choice for screening for CCAMs whilst magnetic resonance imaging is complimentary for morphological and volumetric evaluation of the foetal lung. Most CCAMs are detected antenatally with only a small proportion presenting postnatally. Only a few CCAMs cause foetal problems, with foetal hydrops being the best predictor of death. Although many CCAMs regress during pregnancy, most remain detectable postnatally by CT scans. Surgical excision of symptomatic lesions is relatively straightforward, but management of asymptomatic lesions is controversial. Some surgeons adopt a "wait and see" approach operating only on those patients who develop symptoms, but others operate on asymptomatic patients usually within the first year of life. Due to the potential of malignant transformation, children should have long term follow up. There is an urgent need to delineate the natural history of antenatally detected CCAMs to guide future management. PMID:22726873

Kotecha, S; Barbato, A; Bush, A; Claus, F; Davenport, M; Delacourt, C; Deprest, J; Eber, E; Frenckner, B; Greenough, A; Nicholson, A G; Antón-Pacheco, J L; Midulla, F

2012-09-01

410

Chronic Encapsulated Intracerebral Hematoma Associated with Cavernous Malformation  

PubMed Central

Chronic encapsulated intracerebral hematoma (CEIH) is a rare cerebrovascular disease that behaves as a slowly expanding lesion with a gradual onset. It is well established that CEIH is associated with arteriovenous malformations; however, CEIH associated with cavernous malformation (CM) is extremely rare. We herein report a case of CEIH associated with CM, and discuss its pathogenesis. A 12-year-old female was admitted to our hospital because of a one week history of progressive headache and nausea. Brain computed tomography scan and magnetic resonance imaging showed an intracerebral hematoma surrounded by edema in the right frontal lobe. One week later, her headache and nausea worsened, and a brain computed tomography scan revealed the enlargement of hematoma. A right frontal craniotomy was performed. The capsule, mass, and hematoma were totally removed. Histological examination confirmed the diagnosis of CEIH associated with CM. Immunohistochemical analysis revealed increased expression of vascular endothelial growth factor (VEGF) and the VEGF receptor-1 in the endothelium and fibroblasts. Our findings suggest that the activated VEGF pathway might have positively contributed to development of CEIH in the present patient. PMID:24653802

Wada, Kojiro; Sakakibara, Fumihiro; Mori, Kentaro

2014-01-01

411

A tortuous proximal urethra in urorectal septum malformation sequence?  

PubMed

We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence. PMID:24665006

Lin, Henry J; Lugo, Hector; Tran, Thu; Tovar, Jason P; Corral, Julia; Zork, Noelia M; Smith, Lynne M; French, Samuel W; Barajas, Luciano

2014-05-01

412

Pituitary gland and axial skeletal malformations in human fetuses with spina bifida.  

PubMed

The purpose of the present study was to describe the pituitary gland and axial skeleton, including the sella turcica, in human fetuses with spina bifida. Ten fetuses with gestational ages (GA) 15 1/2-28 weeks were investigated radiographically (Faxitron X-ray apparatus) and immunohistochemically. Four of the fetuses have been described previously. The study showed that nine fetuses had minor or no skeletal abnormalities in the vertebral bodies of the spine, and one fetus had severely malformed vertebral bodies. In all cases the sella turcica and the pituitary gland were malformed. Adenopituitary tissue was in all cases located in both the sella turcica and the pharyngeal submucosa. The most severe sella turcica/pituitary gland malformation was seen in the fetus with the malformed spine. The connection between the prenatally registered sella turcica/pituitary gland malformation and the endocrinological status of children with spina bifida should be emphasized in future studies. PMID:10661842

Kjaer, I; Fischer Hansen, B; Reintoft, I; Keeling, J W

1999-12-01

413

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

PubMed

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

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

2013-06-01

414

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

ERIC Educational Resources Information Center

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

Lindemann, Valeska

1974-01-01

415

Transcatheter brachial fistula creation for treatment of pulmonary arteriovenous malformations.  

PubMed

Pulmonary arteriovenous malformations (PAVMs) are thought to form as a result of exclusion of hepatic venous blood from part of the pulmonary circulation. Surgical arteriovenous (AV) fistula creation has demonstrated therapeutic potential to reverse PAVM formation. We sought to demonstrate the feasibility and safety of transcatheter AV fistula creation for this indication. Fluoroscopically guided puncture from the basilic vein into the brachial artery using a Brockenbrough needle and sharpened 0.014" wire created a tract between these vessels. After balloon dilation of the tract, a covered stent was deployed, resulting in a functioning brachial AV fistula. The procedure was technically successful, with no clinical complications at 4 months follow-up. Repeat diagnostic catheterization revealed marked improvement in systemic saturation and near-resolution of PAVMs in the pilot patient. This report suggests that transcatheter brachial arteriovenous fistula formation is technically feasible, and may be effective in managing PAVMs in select single-ventricle patients. PMID:23765690

Esch, Jesse J; Marshall, Audrey C; Porras, Diego

2014-04-01

416

Amphibian ocular malformation associated with frog virus 3.  

PubMed

During an on-going amphibian ecology study, a free-ranging American bullfrog (Rana catesbeiana) metamorph was captured in a pitfall trap adjacent to a constructed farm pond at the Plateau Research and Education Center (PREC) on the Cumberland Plateau near Crossville, Tennessee, USA. Grossly, the right eye was approximately 50% the size of the left. Stereo and light microscopic examination revealed two granulomas within the orbit. Electron microscopic examination revealed virus particles scattered throughout one structure but mostly aggregated toward the center. Subsequent PCR and sequencing (GenBank accession Number EF175670) confirmed frog virus 3 (FV3). This represents the first report of a malformation in an anuran associated with FV3. PMID:17604194

Burton, Elizabeth C; Miller, Debra L; Styer, Eloise L; Gray, Matthew J

2008-09-01

417

Type II congenital pulmonary airway malformation in an esophageal lung  

PubMed Central

A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

2013-01-01

418

Congenital Cystic Adenomatoid Malformation with Bronchial Atresia in Elderly Patients  

PubMed Central

Congenital cystic adenomatoid malformation (CCAM) is an uncommon, nonhereditary anomaly caused by arrest of lung. Patients with CCAM may present with respiratory distress as newborns, or may remain asymptomatic until later in life. CCAM type I is rarely found in association with bronchial atresia (BA) in adults; we present such a case. Case: A 54-year-old female presented with chronic cough and blood-tinged sputum. Physical examination and laboratory tests were unremarkable. Chest radiographs and a CT scan of the chest showed multiple large air-filled cysts consistent with a CCAM in the right lower lobe, and an oval-shaped opacity in the distal right middle lobal bronchus. Based on the radiologic findings, right middle lobectomy and a medial basal segmentectomy of the right lower lobe were performed via a thoracotomy. These lesions were consistent with Stocker's Type I CCAM and BA in the different lobes. PMID:23101017

Kwak, Hyun Jung; Moon, Ji-Yong; Kim, Sa-Il; Kim, Tae Hyung; Sohn, Jang Won; Kim, Sang-Heon; Shin, Dong Ho; Park, Sung Soo; Chung, Won Sang

2012-01-01

419

[Multiple bilateral pulmonary nodules revealing a congenital cystic adenomatoid malformation].  

PubMed

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality, representing about 25% of all congenital lung lesions. It is very rare that presentation is delayed until adulthood. We report a case of 63-year-old woman without notable pathological antecedents in whom a systematic chest X-ray revealed multiple bilateral pulmonary nodules. The patient was asymptomatic and her physical examination was normal. CT scan showed bilateral liquid rounded thin-walled densities of various size, with a homogeneous non calcified content. The diagnosis was based on radiological findings and surgery. The result of histopathological examination obtained by thoracic surgery confirmed CCAM without malignancy. The postoperative follow up showed an excellent recovery. PMID:22522042

Aichaouia, C; Farah, S; Dabboussi, S; Moatamri, Z; M'hamdi, S; Bougrine, F; Bouzaiene, A; Khadhraoui, M; Cheikh, R

2012-08-01

420

Ulnar Nerve Compression at Guyon's Canal by an Arteriovenous Malformation  

PubMed Central

Guyon's canal at the wrist is not the common site of ulnar nerve compression. Ganglion, lipoma, anomalous tendon and muscles, trauma related to an occupation, arthritis, and carpal bone fracture can cause ulnar nerve compression at the wrist. However, ulnar nerve compression at Guyon's canal by vascular lesion is rare. Ulnar artery aneurysm, tortous ulnar artery, hemangioma, and thrombosis have been reported in the literature as vascular lesions. The authors experienced a case of ulnar nerve compression at Guyon's canal by an arteriovenous malformation (AVM) and the patient's symptom was improved after surgical resection. We can not easily predict vascular lesion as a cause of ulnar nerve compression at Guyon's canal. However, if there is not obvious etiology, we should consider vascular lesion as another possible etiology. PMID:19242575

Kim, Sung Soo; Kang, Hee In; Lee, Seung Jin

2009-01-01

421

Embolization of Arteriovenous Malformation with Diluted Mixture of NBCA  

PubMed Central

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

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

2000-01-01

422

Dual technique for obliteration of small arteriovenous malformations.  

PubMed

A 17-year-old man underwent an incomplete excision of a left fronto-parietal arterio-venous malformation (AVM), under image guidance. An initial attempt to treat the residual AVM by embolization was unsuccessful. The craniotomy was then re-opened in the angiography suite and the residual AVM was excised by, first, following the microcatheter within the arterial feeding vessel to the AVM and, secondly, by using metallic clips as radiographic markers to locate the position of the AVM during superselective angiography. The dual technique described is likely to be useful in selected cases with small residual AVMs and AVMs near eloquent areas of the brain, where the extent of surgical dissection and postoperative morbidity can be minimized by the precise localization of the AVM. PMID:12389892

Gnanalingham, K; Taylor, W; Watkins, L

2002-08-01

423

Histopathological changes in cerebral arteriovenous malformations following Gamma Knife radiosurgery.  

PubMed

Histological, immunohistochemical and electron microscopic investigations were carried out in a series of surgical pathology material that was removed from 7 patients. They were harboring cerebral arteriovenous malformations (AVMs) that had been previously treated with Leksell Gamma Knife radiosurgery, and presented subsequent bleeding 10-52 months after treatment. Light microscopic studies revealed a spindle cell proliferation in the connective tissue stroma and in the subendothelial region of the irradiated AVM vessels. The histological, immunohistochemical and ultrastructural characteristics of the spindle cell population in the Leksell Gamma Knife-treated AVMs are similar to those designated as myofibroblasts in wound healing processes and pathological fibromatoses. Considering that similar cell modifications have not been demonstrated in control, nonirradiated AVM specimens, these myofibroblasts might contribute to the shrinking process and final occlusion of AVMs after radiosurgery. PMID:17317989

Szeifert, György T; Timperley, Walter R; Forster, David M C; Kemeny, Andras A

2007-01-01

424

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI  

PubMed Central

BACKGROUND AND PURPOSE Periventricular nodular heterotopia are common malformations of cortical development that are associated with many clinical syndromes and with many different neuroimaging phenotypes. The purpose of this study was to determine whether specific malformation phenotypes may be related to location, side, or number of PNH as assessed by MR imaging. MATERIALS AND METHODS MR images of 200 patients previously diagnosed with PNH were retrospectively analyzed. PNH were classified according to their location along the ventricles (anterior, posterior, or diffuse), side (unilateral or bilateral), and number of nodules (<5, 6–10, or >10). The cerebrum, brain stem and cerebellum were analyzed to assess associated anomalies. Associations between PNH location and the presence of other anomalies were tested by using Fisher exact test and ?2 test. RESULTS Posterior PNH were significantly associated with malformations of the cerebral cortex, diminished white matter volume, and mid-/hindbrain anomalies. Diffuse PNH were associated with diminished white matter volume, callosal “anomalies,” and the presence of megacisterna magna. Unilateral PNH were strongly associated with cortical malformations. CONCLUSIONS Certain malformation complexes are associated with PNH in specific locations: posterior PNH with cerebral cortical and mid-/hindbrain malformations and diffuse PNH with callosal anomalies and megacisterna magna. Knowledge of these associations should allow more directed analyses of brain MR imaging in patients with PNH. In addition, knowledge of these associations may help to direct studies to elucidate the causes of these malformation complexes. PMID:23064591

González, G.; Vedolin, L.; Barry, B.; Poduri, A.; Walsh, C.; Barkovich, A.J.

2013-01-01

425

Risk of malformations associated with residential proximity to hazardous waste sites in Washington State.  

PubMed

Hazardous waste sites often contain substances harmful to fetal development. Using linked birth-hospital discharge and hazardous sites data for Washington State, we evaluated the association between malformation occurrence and maternal residential proximity to hazardous waste sites. Cases (N=63,006) were infants born 1987-2001 with malformations. Controls (N=315,030) were randomly selected infants without malformations born during these years. Distance between maternal residence and nearest hazardous waste site was measured using geographic information systems (GIS) software. Odds ratio (OR) estimates of the relative risk of malformation at varying distances were calculated. Relative to living >5 miles from a site, living < or = 5 miles was associated with increased risk of any malformations in offspring (for >2- < or = 5 miles: OR 1.15: 95% Confidence Interval (CI): 1.10, 1.21; for >1- < or = 2 miles: OR 1.26, 95% CI: 1.20, 1.32; for >0.5- < or = 1 miles: OR 1.28, 95% CI: 1.22, 1.35; for < or = 0.5 miles: OR 1.33, 95% CI: 1.27, 1.40.) Risk estimates varied by urban vs. rural maternal residence and by specific malformation type. Hazardous waste sites are often located within populated areas. Thus, the possibility of increased malformation occurrence among those in close proximity deserves closer scrutiny. PMID:17046743

Kuehn, Carrie M; Mueller, Beth A; Checkoway, Harvey; Williams, Marcia

2007-03-01

426

Malformations of Cortical Development: Diagnostic Accuracy of Fetal MR Imaging  

PubMed Central

Purpose: To determine the diagnostic accuracy of fetal magnetic resonance (MR) imaging for malformations of cortical development by using postnatal MR imaging as reference standard. Materials and Methods: Eighty-one patients who had undergone fetal and postnatal MR imaging of the brain were identified in this institutional review board–approved, HIPAA-compliant study. Images were retrospectively reviewed in consensus by two pediatric neuroradiologists who were blinded to clinical information. Sensitivity and specificity were calculated according to retrospective review of the images and clinical reports for fetal MR images. The Fisher exact test was used to compare results for fetuses imaged before and after 24 gestational weeks and for image review versus clinical reports for fetal MR images. Results: Median gestational age at fetal MR imaging was 25.0 weeks (range, 19.71–38.14 weeks). Postnatal MR imaging depicted 13 cases of polymicrogyria, three cases of schizencephaly, and 15 cases of periventricular nodular heterotopia. Sensitivity and specificity of fetal MR imaging were 85% and 100%, respectively, for polymicrogyria; 100% each for schizencephaly; and 73% and 92%, respectively, for heterotopia. When heterotopia was seen in two planes, specificity was 100% and sensitivity was 67%. Sensitivity for heterotopia decreased to 44% for fetuses younger than 24 weeks. According to reports for fetal MR images, prospective sensitivity and specificity, respectively, were 85% and 99% for polymicrogyria, 100% and 99% for schizencephaly, and 40% and 91% for heterotopia. Conclusion: Fetal MR imaging had the highest sensitivity for polymicrogyria and schizencephaly. Specificity was 100% for all cortical malformations when the abnormality was seen in two planes. Sensitivity for heterotopia was lower for fetuses younger than 24 weeks. Knowledge of the gestational age is important, especially for counseling patients about heterotopia. © RSNA, 2012 PMID:22495681

Cuneo, Addison A.; Barkovich, A. James; Hashemi, Zary; Bartha, Agnes I.; Xu, Duan

2012-01-01

427

NPHP4 Variants are Associated with Pleiotropic Heart Malformations  

PubMed Central

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

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

428

Advanced Echocardiographic Imaging of the Congenitally Malformed Heart  

PubMed Central

There have been significant advancements in the ability of echocardiography to provide both morphological and functional information in children with congenitally malformed hearts. This progress has come through the development of improved technology such as matrix array probes and software which allows for the off line analysis of images to a high standard. This article focuses on these developments and discusses some newer concepts in advanced echocardiography such is multi-planar reformatting [MPR] and tissue motion annular displacement [TMAD]. Our aim is to discuss important aspects related to the quality and reproducibility of data, to review the most recent published data regarding advanced echocardiography in the malformed heart and to guide the reader to appropriate text for overcoming the technical challenges of using these methods. Many of the technical aspects of image acquisition and post processing have been discussed in recent reviews by the authors and we would urge readers to study these texts to gain a greater understanding [1]. The quality of the two dimensional image is paramount in both strain analysis and three dimensional echocardiography. An awareness of how to improve image quality is vital to acquiring accurate and usable data. Three dimensional echocardiography (3DE) is an attempt to visualise the dynamic morphology of the heart. Although published media is the basis for theoretical knowledge of how to practically acquire images, electronic media [eg.www.3dechocardiography.com] is the only way of visualising the advantages of this technology in real time. It is important to be aware of the limitations of this technology and that much of the data gleaned from using these methods is at a research stage and not yet in regular clinical practice. PMID:23228075

Black, D; Vettukattil, J

2013-01-01

429

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

PubMed Central

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

Sundararajan, Elankovan

2014-01-01

430

NEW FRAGILE AUTHENTICATION WATERMARK FOR IMAGES a) Jiri Fridrich, b) Miroslav Goljan, and c) Arnold C. Baldoza  

E-print Network

NEW FRAGILE AUTHENTICATION WATERMARK FOR IMAGES a) Jiri Fridrich, b) Miroslav Goljan, and c) Arnold#$LU#)RUFH ^IULGULFK##EJ#####`#ELQJKDPWRQ#HGX##EDOGR]D#FRQFHQWULF#QHW ABSTRACT In this paper, we propose a new fragile certain security gaps common to many previously proposed fragile watermarks. A block cipher is used

Fridrich, Jessica

431

Alexandra Williams - 'Bonnie Sweet Recorder': some issues arising from Arnold Dolmetsch's early English recorder performances - Early Music 35:1  

Microsoft Academic Search

The work of Arnold Dolmetsch (1858–1940) with the recorder was crucial to the subsequent mass revival of the instrument in England. This article discusses in particular two newly discovered recorder programmes of his, dated 1900; it examines the significance of these and some of his later programmes in terms of overall instrumentation and repertory, and questions some long-held beliefs about

Alexandra Williams

2007-01-01

432

VECTOR DIAGNOSTICS IN DEMENTIA DERIVED FROM BAYES' THEOREM Arnold B. Mitnitski, Janice E. Graham, Alexander J. Mogilner, Kenneth Rockwood  

E-print Network

VECTOR DIAGNOSTICS IN DEMENTIA DERIVED FROM BAYES' THEOREM Arnold B. Mitnitski, Janice E. Graham dementia diagnoses are estimated from the Canadian Study of Health and Aging (CSHA) database. This method emerging diagnostic categories which might better account for the heterogeneity of the dementia sub

Mitnitski, Arnold B.

433

SYMPTOMS AND SIGNS IN DEMENTIA: SYNERGY AND ANTAGONISM Janice E. Graham, Arnold B. Mitnitski, Alexander J. Mogilner, Denis Gauvreau,  

E-print Network

SYMPTOMS AND SIGNS IN DEMENTIA: SYNERGY AND ANTAGONISM Janice E. Graham, Arnold B. Mitnitski no cognitive impairment, cognitive impairment but no dementia, mild, moderate and severe forms of Alzheimer's disease and vascular dementia, 4 subtypes of possible Alzheimer's disease, Parkinson's dementia

Mitnitski, Arnold B.

434

Atmospheric histories and growth trends Diane J. Ivy, Tim Arnold, Christina M. Harth, L. Paul Steele, Jens Mhle,  

E-print Network

Atmospheric histories and growth trends of C4 F10 , C5 F12 , C6 F14 , C7 F16 and C8 F18 * Diane J. Ivy, Tim Arnold, Christina M. Harth, L. Paul Steele, Jens Mühle, Matthew Rigby, Peter K. Salameh(s) 2012. CC Attribution 3.0 License. Atmospheric Chemistry and Physics Atmospheric histories and growth

435

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult.  

PubMed

Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. PMID:24672262

Enuh, Hilary A; Arsura, Edward L; Cohen, Zaza; Diaz, Keith T; Nfonoyim, Jay M; Cosentino, Phillip J; Saverimuttu, Jessie K

2014-01-01

436

Congenital cystic adenomatoid malformation of lung: Report of two cases with review of literature.  

PubMed

Congenital cystic adenomatoid malformations (CCAM) also known as congenital pulmonary airway malformation is a developmental, non-hereditary, hamartomatous abnormality of lung with unknown etiology. It is a rare disease with an incidence of 1 in 25,000 to 1 in 35,000. It is a disease of infancy with most of the cases diagnosed within first 2 years of life. We report autopsy findings of two fetuses with congenital cystic adenomatoid malformation (Stocker Type II and I) with brief review of literature. PMID:24049259

Chikkannaiah, Panduranga; Kangle, Ranjit; Hawal, Manjiri

2013-07-01

437

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult  

PubMed Central

Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. PMID:24672262

Enuh, Hilary A; Arsura, Edward L; Cohen, Zaza; Diaz, Keith T; Nfonoyim, Jay M; Cosentino, Phillip J; Saverimuttu, Jessie K

2014-01-01

438

Congenital cystic adenomatoid malformation of lung: Report of two cases with review of literature  

PubMed Central

Congenital cystic adenomatoid malformations (CCAM) also known as congenital pulmonary airway malformation is a developmental, non-hereditary, hamartomatous abnormality of lung with unknown etiology. It is a rare disease with an incidence of 1 in 25,000 to 1 in 35,000. It is a disease of infancy with most of the cases diagnosed within first 2 years of life. We report autopsy findings of two fetuses with congenital cystic adenomatoid malformation (Stocker Type II and I) with brief review of literature. PMID:24049259

Chikkannaiah, Panduranga; Kangle, Ranjit; Hawal, Manjiri

2013-01-01

439

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

PubMed Central

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 head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

Obrador, S; Soto, M; Silvela, J

1975-01-01

440

Colostomy in anorectal malformations: a procedure with serious but preventable complications  

Microsoft Academic Search

PurposeColostomy for patients with anorectal malformations decompresses an obstructed colon, avoids fecal contamination of the urinary tract, and protects a future perineal operation. The procedure is associated with several significant complications.

Alberto Pena; Melissa Migotto-Krieger; Marc A. Levitt

2006-01-01

441

Venous Malformation Between the External and Internal Jugular Vein Results in Swelling: Multidetector Computed Tomography Imaging  

PubMed Central

Venous malformation between the external and internal jugular vein characterized by nonfluctant, painless, and nonpulsatile swelling on the right side of his neck while the individual was singing was reported in a 45-year-old man. Interestingly, there was no skin lesion observed on his neck. The swelling increased in size when the patient was shouting (Valsalva maneuver) and diminished in size during periods of rest. Contrast enhanced multi detector computed tomography (MDCT) angiography indicated the presence of a venous malformation between the external and internal jugular vein. The patient was administered a conservative treatment strategy. Notably, only symptomatic malformations or lesions causing important aesthetic prejudice require surgical treatment. In this case, there were no symptoms or esthetic issues. Thus, we recommend diagnosis using MDCT imaging for vascular malformations at contraindicate magnetic resonance imaging (MRI).

Demir, Berrin; Kantarci, Mecit; Sumbullu, M. Akif; Yuce, Ihsan

2008-01-01

442

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

PubMed

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

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

2014-10-01

443

[Computed tomography in the diagnosis of congenital cystic adenomatoid malformation of the lung in children].  

PubMed

Cystic adenomatoid malformations of the lung belong to a group of abnormalities, the only treatment is surgery. This raises the question as to the earliest detection of this lung abnormality in children. Up to the present, there have been cases of late diagnosis of this abnormality masked by an inflammatory process in the lung, its abscess, and even tuberculosis lesion of lung tissue. We describe a case of cystic adenomatoid malformation of the lung in a child, by discussing the capabilities of chest computed tomography in the diagnosis of lung malformations in children. When inflammatory lung changes are found in children, it is necessary to keep in mind that these alterations may develop in the presence of the malformation. To clarify the pattern of the disease, by applying current radiodiagnostic techniques, allows the choice of optimal treatment policy and the time and volume of surgical intervention. PMID:25276886

Il'ina, N A; Alekseeva, A L

2014-01-01

444

Coffee consumption during pregnancy and selected congenital malformations: a nationwide case-control study.  

PubMed Central

Finland leads the world in per capita coffee consumption. To evaluate the hypothesis that coffee consumption during pregnancy is teratogenic, 755 pairs of mothers of malformed children and their controls were personally interviewed soon after delivery. After excluding tea drinkers and pairs with inadequate information, the study group included 706 pairs. Study subjects consisted of mothers of children with 112 defects of the central nervous system, 241 orofacial clefts, 210 structural defects of the skeleton, and 143 cardiovascular malformations. The coffee consumption during pregnancy was similar for the mothers of malformed or non-malformed children. The comparison of the mothers drinking at least four cups of coffee a day during pregnancy with those not consuming coffee at all showed a relative risk point estimate of 1.0 with the 95 per cent confidence limits of 0.7 and 1.3. PMID:6638236

Kurppa, K; Holmberg, P C; Kuosma, E; Saxén, L

1983-01-01

445

[Malformations of urinary system in our series of children--treatment approaches].  

PubMed

The purpose of the study was to analyze treatment approaches in children with malformations of urinary system. The retrospective study comprised 557 children (196 boys and 361 girls) aged 1-18 years with malformations of urinary system hospitalized in 2000-2007 in the Department of Pediatric Nephrology, University Children's Hospital, Lublin. Primary and secondary vesicoureteral reflux (269 children), ureteral obstruction (102 children), urethral obstruction (91 children) and renal duplication (83 children) were the most common malformations observed. In 26 children, multiple urinary system malformations were diagnosed. 332 children required surgery including 113 with vesicoureteral reflux. However, in the majority of children with vesicoureteral reflux, on an average 18-month pharmacologic treatment resulted in complete recovery. PMID:18924512

Bienia?, Beata; Borzecka, Halina; Wieczorkiewicz-P?aza, Anna; Majewski, Marek; Sikora, Przemys?aw; Ksiazek, Ewelina; Zajaczkowska, Ma?gorzata

2008-01-01

446

Intravascular use of isobutyl 2-cyanoacrylate: Part 1 Treatment of intracranial arteriovenous malformations.  

PubMed

The intravascular use of the rapidly polymerizing acrylic compound, isobutyl 2-cyanoacrylate (IBC), in 10 patients with intracranial arteriovenous malformations (AVMs) is described. The monomer was introduced into each malformation at craniotomy using angiographic control and microvascular dissection technique to identify, isolate, and inject the major components of each vascular lesion while attempting to preserve normal arterial circulation. Postoperative angiography was used routinely to evaluate the results of IBC embolization. Four patients underwent the injection and immediate surgical excision of an intracranial AVM, and 6 underwent injection alone; 3 of the latter had residual malformation demonstrated on postoperative angiography, and 1 of these patients had the remnants of her malformation occluded by a second embolic procedure. There was no operative mortality nor permanent neurological morbidity. Three patients suffered transient neurological dysfunction in the immediate postoperative period. PMID:7207772

Samson, D; Ditmore, Q M; Beyer, C W

1981-01-01

447

Long-term pathological follow-up of cerebral arteriovenous malformations treated by embolization with bucrylate.  

PubMed

We examined 17 intracranial arteriovenous malformations that were resected after treatment by embolization using bucrylate (isobutyl-2-cyanoacrylate). In nine specimens removed 5 days to 16 months after embolization therapy, a series of pathologic changes was seen, including patchy mural angionecrosis (adjacent to bucrylate fragments) up to six weeks after embolization, the presence of bucrylate in vessel walls and fibromuscular intimal cushions, and the occurrence (after several months) of entirely extravascular bucrylate. Occasional parts of recanalized vascular malformations were identified. Bucrylate was present within arteriovenous malformations as late as 16 months after embolization, although the amount appeared to be diminished. These findings suggest a specific sequence of events in the interaction between bucrylate and mural components within the malformations and may explain some important complications of embolization therapy (e.g., delayed hemorrhage after embolization). PMID:3511383

Vinters, H V; Lundie, M J; Kaufmann, J C

1986-02-20

448

Small intestinal vascular malformation bleeding: A case report with imaging findings  

PubMed Central

The small intestine is approximately 5-6 m long and occupies a large area in the abdominal cavity. These factors preclude the use of ordinary endoscopy and X-ray to thoroughly examine the small intestine for bleeding of vascular malformations. Thus, the diagnosis of intestinal bleeding is very difficult. A 47-year-old man presented at the hospital 5 mo ago with dark stool. Several angiomas were detected by oral approach enteroscopy, but no active bleeding was observed. Additionally, no lesions were detected by anal approach enteroscopy; however, gastrointestinal tract bleeding still occurred for an unknown reason. We performed an abdominal vascular enhanced computed tomography examination and detected ileal vascular malformations. Ileum angioma and vascular malformation were detected by a laparoscopic approach, and segmental resection was performed for both lesions, which were confirmed by pathological diagnosis. This report systemically emphasizes the imaging findings of small intestinal vascular malformation bleeding. PMID:25320550

Cui, Jun; Huang, Liu-Ye; Lin, Shu-Juan; Yi, Long-Zhi; Wu, Cheng-Rong; Zhang, Bo

2014-01-01

449

Vascular endothelial growth factor and type 2 receptor for this factor in vascular malformations.  

PubMed

Immunohistochemical study revealed higher level of VEGF expression in vascular malformations compared to that in normal vessels of the adjacent tissue. VEGF expression was slightly higher in the endothelium of arteriovenous angiodysplasias than in venous angiodysplasias. Enzyme immunoassay of tissue extracts showed that the concentrations of VEGF and VEGFR2 differ in arteriovenous and venous malformations. The concentrations of VEGF and VEGFR2 differed more significantly in primary and recurrent forms of arteriovenous angiodysplasias (as compared to venous angiodysplasias). PMID:22268049

Pavlov, K A; Gershtein, E S; Dubova, E A; Shchegolev, A I

2011-02-01

450

Completely extradural intraspinal arteriovenous malformation in the lumbar spine: a case report  

PubMed Central

Introduction Spinal vascular malformations can be classified in arteriovenous malformations, cavernomas, and capillary telangiectasias. Arteriovenous malformations are the most common spinal vascular anomaly and may be located intra- and/or perimedullary. According to their nidus type and hemodynamic flow patterns, they can be differentiated into fistulous, glomerular and juvenile categories. In our case, a hyperintense extradural mass was misinterpreted as a neurinoma. The histological analysis revealed typical signs of an arteriovenous malformation. Case presentation A 57-year-old Caucasian woman presented with back pain and hypesthesia in digiti two to four of her left foot. Magnetic resonance imaging showed a long-segment intraspinal extradural soft-tissue mass in the left L4 - S1 paravertebral region with homogeneous enhancement of contrast medium. Due to another similar lesion in the lower ankle and additional cutaneous manifestations, the suspected diagnosis was a systemic disease with neurinomas (e.g. Recklinghausen’s disease). To clear up the origin and type of this lesion exploratory surgery with a hemilaminectomy of L5 was performed. This showed abnormally arterialized, dilated, and tortuous vessels. After complete resection, the intra-operative impression of an arteriovenous malformation was confirmed by a neuropathologist. Conclusions Completely extradural intraspinal arteriovenous malformations in the lumbar spine are extremely rare. In magnetic resonance imaging they are often misinterpreted as a tumor. Arteriovenous malformations can cause compression and venous congestion, or mask symptoms like a spinal disk herniation. In cases presenting with these symptoms and magnetic resonance imaging findings, an extradural intraspinal arteriovenous malformation should be considered as a possible diagnosis. Pre-operative angiography or magnetic resonance imaging angiography can be used to verify the diagnosis. PMID:24957385

2014-01-01

451

Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence.  

PubMed

Three cases of cerebellar vermis agenesis are reported and the relevant literature (19 other cases) is reviewed. Other posterior fossa malformations, such as a mega-cisterna magna, arachnoid cyst and Dandy-Walker syndrome, are discussed both from the pathological and clinical view point. We put forward a hypothesis that agenesis of the cerebellar vermis and Dandy-Walker syndrome could be regarded as two different stages of the same malformation. PMID:503277

Mercuri, S; Curatolo, P; Giuffrè, R; Di Lorenzo, N

1979-09-01

452

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children  

Microsoft Academic Search

We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic\\/structural\\u000a abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the\\u000a kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal malformations (37.8%).\\u000a Horse-shoe kidney was

Ilmay Bilge; Hulya Kayserili; Sevinc Emre; Ahmet Nayir; Aydan Sirin; Turgut Tukel; Firdevs Bas; Gulleyla Kilic; Seher Basaran; Hulya Gunoz; Memnune Apak

2000-01-01

453

Alternative approach to the repair of Ebstein’s malformation: intracardiac repair with ventricular unloading  

Microsoft Academic Search

Background. Moderate to severe Ebstein’s malformation remains a surgical challenge. Although the various approaches that have been used are appropriate and successful in many patients, there are many for which these approaches are suboptimal. To improve the prognosis for patients across the full spectrum of Ebstein’s malformation, alternative surgical approaches are necessary.Methods. From December 1995 to October 1997, 10 patients

Stefano M Marianeschi; Doff B McElhinney; V. Mohan Reddy; Norman H Silverman; Frank L Hanley

1998-01-01

454

Nitrosatable drug exposure during the first trimester of pregnancy and selected congenital malformations  

PubMed Central

BACKGROUND Nitrosatable drugs can react with nitrite in the stomach to form N-nitroso compounds, and results from animal studies suggest that N-nitroso compounds are teratogens. With data from the National Birth Defects Prevention Study, the relation between prenatal exposure to nitrosatable drugs and limb deficiencies, oral cleft, and heart malformations in offspring was examined. METHODS Maternal reports of drugs taken during the first trimester of pregnancy were classified with respect to nitrosatability for mothers of 741 babies with limb deficiencies, 2,774 with oral cleft malformations, 8,091 with congenital heart malformations, and 6,807 without major congenital malformations. Nitrite intake was estimated from maternal responses to a food frequency questionnaire. RESULTS Isolated transverse limb deficiencies and atrioventricular septal defects were associated with secondary amine drug exposures (adjusted odds ratios [aOR] 1.51, 95% confidence limit [CI] 1.11, 2.06 and aOR 1.97, 95% CI 1.19, 3.26, respectively). Tertiary amines were associated with hypoplastic left heart syndrome (aOR 1.50, 95% CI 1.10, 2.04) and single ventricle (aOR 1.61, 95% CI 1.06, 2.45). These two malformations were also significantly associated with amide drugs. For several malformations, the strongest associations with nitrosatable drug use occurred among mothers with the highest estimated dietary nitrite intake, especially for secondary amines and atrioventricular septal defects (highest tertile of nitrite, aOR 3.30, 95% CI 1.44, 7.58). CONCLUSION Prenatal exposure to nitrosatable drugs may be associated with several congenital malformations, especially with higher nitrite intake. The possible interaction between nitrosatable drugs and dietary nitrite on risk of congenital malformations warrants further attention. PMID:22903972

Brender, Jean D.; Werler, Martha M; Shinde, Mayura U; Vuong, Ann M; Kelley, Katherine E.; Huber, John C.; Sharkey, Joseph R.; Griesenbeck, John S.; Romitti, Paul A.; Malik, Sadia; Suarez, Lucina; Langlois, Peter H.; Canfield, Mark A.

2012-01-01

455

Infant mortality from congenital malformations in the United States, 1970–1997  

Microsoft Academic Search

OBJECTIVE:We examined a trend in infant mortality caused by congenital malformations in the United States, particularly for the racial disparity between whites and nonwhites.METHODS:We used US annual summary data on cause-specific infant mortality for 1970–97 and detailed birth and infant death linked data for 1985–87, 1989–91, and 1995–97.RESULTS:Congenital malformations became a more prominent cause of infant mortality in 1997 and

Kwang-sun Lee; Babak Khoshnood; Li Chen; Stephen N Wall; William J Cromie; Robert L Mittendorf

2001-01-01

456

2008 by The University of Chicago. All rights reserved.DOI: 10.1086/527498 Appendix from P. A. Hohenlohe and S. J. Arnold, "MIPoD: A  

E-print Network

and regional population means for body and tail vertebral counts in Thamnophis and Nerodia Species Subspecies Francisco Peninsula 147.00 71.00 57a Fox 1951 T. elegans Lassen Co., CA 167.52 80.59 708 Arnold and Phillips 1999 T. elegans Humboldt Co., CA 151.73 71.25 481 Arnold and Phillips 1999 T. couchii Feather River, CA

Arnold, Stevan J.

457

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.  

PubMed

Purpose:The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has not been established.Methods:We analyzed PDCD10 small interfering RNA-treated endothelial cells for stress fibers, Rho kinase activity, and permeability. Rho kinase activity was assessed in cerebral cavernous malformation lesions. Brain permeability and cerebral cavernous malformation lesion burden were quantified, and clinical manifestations were assessed in prospectively enrolled subjects with PDCD10 mutations.Results:We determined that PDCD10 protein suppresses endothelial stress fibers, Rho kinase activity, and permeability in vitro. Pdcd10 heterozygous mice have greater lesion burden than other Ccm genotypes. We demonstrated robust Rho kinase activity in murine and human cerebral cavernous malformation vasculature and increased brain vascular permeability in humans with PDCD10 mutation. Clinical phenotype is exceptionally aggressive compared with the more common KRIT1 and CCM2 familial and sporadic cerebral cavernous malformation, with greater lesion burden and more frequent hemorrhages earlier in life. We first report other phenotypic features, including scoliosis, cognitive disability, and skin lesions, unrelated to lesion burden or bleeding.Conclusion:These findings define a unique cerebral cavernous malformation disease with exceptional aggressiveness, and they inform preclinical therapeutic testing, clinical counseling, and the design of trials.Genet Med advance online publication 14 August 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.97. PMID:25122144

Shenkar, Robert; Shi, Changbin; Rebeiz, Tania; Stockton, Rebecca A; McDonald, David A; Mikati, Abdul Ghani; Zhang, Lingjiao; Austin, Cecilia; Akers, Amy L; Gallione, Carol J; Rorrer, Autumn; Gunel, Murat; Min, Wang; Marcondes de Souza, Jorge; Lee, Connie; Marchuk, Douglas A; Awad, Issam A

2014-08-14

458

[Laser and intense pulsed light in the treatment of infantile haemangiomas and vascular malformations].  

PubMed

The use of the indications of the laser in treating vascular malformations and infantile haemangiomas is based on the theory of selective photothermolysis, in which the oxyhaemoglobin is the target chromophore on which the light of the laser acts, thus avoiding damage to neighbouring tissues. The pulsed dye laser is the most employed and at present is the treatment of choice in capillary malformations (port-wine stains). A variable response is obtained, with a substantial clearing of the colour of the lesion after several sessions. Application at early ages seems to improve the results. Venous malformations, especially those localised in the mucosa, respond better to the Nd:YAG laser; lymphatic malformations to the CO2 laser. Arteriovenous malformations rarely respond. Use of the pulsed dye laser in the phase of proliferation of the haemangiomas is subject to controversy, except where there is ulceration. A rapid re-epithelialization is obtained in these cases following its use. In the involution phase, patients with residual vascular lesions can benefit from other lasers such as KTP or Nd:YAG. If they show an atrophic surface and scars these complications improve with the CO2 laser or Er:YAG. New treatment modalities are emerging, such as photodynamic therapy, whose efficacy and safety, both in the treatment of haemangiomas and vascular malformations, have yet to be confirmed. PMID:15148516

Sánchez Carpintero, I; Mihm, M C; Waner, M

2004-01-01

459

Laser treatment in the management of infantile hemangiomas and capillary vascular malformations.  

PubMed

Vascular lesions encountered in dermatology can be divided into vascular malformations and vascular tumors, namely infantile hemangiomas (IH). Vascular malformations can further be subdivided by their flow characteristics and vessel type. Slow, or low-flow lesions are either capillary vascular malformations (CVMs), venous malformations, or lymphatic malformations. Fast, or high-flow lesions include an arterial component, and are categorized as arteriovenous malformations. IH and CVMs are among the most common benign vascular lesions seen and treated in dermatology. CVMs are present at birth and grow as the individual does, whereas IH usually appear days to weeks later and may rapidly enlarge for a period of months to a year before gradually involuting. As the technology has evolved, early and often laser treatment with the pulsed dye 595-nm laser has become our standard therapy of choice. More recently, we have started more patients on combination therapy for IH with the topical beta blocker timolol. If left untreated, CVMs darken and thicken, making them increasingly difficult to successfully treat with lasers. IH involute, sometimes resulting in fibrofatty, atrophic plaques. These individuals can undergo ablative fractional resurfacing with a fractional CO2 laser to improve the texture and appearance of these lesions. PMID:23499132

Brauer, Jeremy A; Geronemus, Roy G

2013-03-01

460

Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations: a nationwide cohort study  

PubMed Central

Objectives To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. Design Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. Setting Denmark. Participants Pregnant women in Denmark between 1997 and 2009 and their offspring. Primary outcome measures For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused exposure during pregnancy. Results The authors identified 848?786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual SSRIs. Furthermore, the authors found no association with dosage. Conclusions The apparent association between SSRI use and congenital malformations of the heart may be confounded by indications. The moderate absolute risk increase combined with uncertainty for causality still requires the risk versus benefit to be evaluated in each individual case. PMID:22710132

Andersen, Jon Traerup; Petersen, Morten; Broedbaek, Kasper; Jensen, Jonas Krogh; Afzal, Shoaib; Gislason, Gunnar H; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

2012-01-01

461

Heat conduction in systems with Kolmogorov-Arnold-Moser phase space structure  

E-print Network

We study heat conduction in a billiard channel formed by two sinusoidal walls and the diffusion of particles in the corresponding channel of infinite length; the latter system has an infinite horizon, i.e., a particle can travel an arbitrary distance without colliding with the rippled walls. For small ripple amplitudes, the dynamics of the heat carriers is regular and analytical results for the temperature profile and heat flux are obtained using an effective potential. The study also proposes a formula for the temperature profile that is valid for any ripple amplitude. When the dynamics is regular, ballistic conductance and ballistic diffusion are present. The Poincar\\'e plots of the associated dynamical system (the infinitely long channel) exhibit the generic transition to chaos as ripple amplitude is increased.When no Kolmogorov-Arnold-Moser (KAM) curves are present to forbid the connection of all chaotic regions, the mean square displacement grows asymptotically with time t as tln(t).

I. F. Herrera-González; H. I. Pérez-Aguilar; A. Mendoza-Suárez; E. S Tututi

2012-09-28

462

Color image hiding based on the phase retrieval technique and Arnold transform.  

PubMed

A new (to our knowledge) method is proposed in this paper for color image hiding and extracting using the phase retrieval algorithm in the fractional Fourier transform (FRFT) domain and Arnold transform (ART). Based on a cascaded phase iterative FRFT algorithm, the three channels (R, G, and B) of the secret color image permuted by ART are encrypted. Then the encoded information is embedded in the blue channel (B channel) of the enlarged color host image. Using the security enhanced encryption method, not only the random phase mask and the wavelength but also the transform parameters of ART and FRFT are provided as additional keys for decryption. It is shown that the security of information hiding will be enhanced. Computer simulations are performed to show the hiding capacity of the proposed system. Numerical results are presented to verify the validity and efficiency of the proposed method. PMID:21556114

Shi, Xiaoyan; Zhao, Daomu

2011-05-10

463

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

SciTech Connect

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

Basko, D.M., E-mail: denis.basko@grenoble.cnrs.fr [Laboratoire de Physique et Modelisation des Milieux Condenses, Universite de Grenoble 1 and CNRS, BP166, 38042 Grenoble (France)

2011-07-15

464

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

NASA Technical Reports Server (NTRS)

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

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

1992-01-01

465

Patterns of hippocampal abnormalities in malformations of cortical development  

PubMed Central

Objective To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities. Methods A total of 122 consecutive patients with MRI diagnosis of MCD (53 males, age range 1–58 years) were included in the study. Hippocampal measurements were made on 1–3?mm coronal T1?weighted MRIs and compared with MRIs of normal controls. Results A total of 39 patients had focal cortical dysplasia, 5 had hemimegalencephaly, 5 had lissencephaly?agyria?pachygyria, 11 had SLH, 11 had PNH, 12 had bilateral contiguous PNH, 5 had schizencephaly, and 34 had polymicrogyria. The frequency of hippocampal abnormalities in these patients with MCD was 29.5%. A small hippocampus was present in all types of MCD. Only patients with lissencephaly and SLH had an enlarged hippocampus. Abnormalities in hippocampal rotation and shape were present in all types of MCD; however, these predominated in PNH. None of the patients with lissencephaly?agyria?pachygyria or SLH had hyperintense signal on T2 or FLAIR images or abnormal hippocampal internal architecture. Conclusion A small hippocampus was present in