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1

Acute Porphyria in a Patient with Arnold Chiari Malformation  

PubMed Central

Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

2015-01-01

2

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

Microsoft Academic Search

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

M. Roth

1986-01-01

3

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. PMID:25653995

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

2014-01-01

4

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

PubMed

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

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

2014-12-01

5

Anaesthesia for caesarean section in a patient with syringomyelia and Arnold-Chiari type I malformation  

Microsoft Academic Search

A 37-year-old primiparous woman with syringomyelia and Arnold-Chiari type I malformation was scheduled to undergo elective caesarean section for a fetus in the breech presentation. Caesarean section was performed under general anaesthesia without complications; all we observed was an exaggerated response to atracurium. The patient was discharged home 7 days after the operation without neurological deterioration. General anaesthesia was chosen

M Agust??; R Adàlia; C Fernández; C Gomar

2004-01-01

6

Anaesthesia for caesarean section in a patient with syringomyelia and Arnold-Chiari type I malformation.  

PubMed

A 37-year-old primiparous woman with syringomyelia and Arnold-Chiari type I malformation was scheduled to undergo elective caesarean section for a fetus in the breech presentation. Caesarean section was performed under general anaesthesia without complications; all we observed was an exaggerated response to atracurium. The patient was discharged home 7 days after the operation without neurological deterioration. General anaesthesia was chosen in this patient to avoid any spinal manipulation that could increase intracranial pressure or reduce intraspinal pressure and cause deterioration of neurological symptoms. Syringomyelia is a progressive myelopathy characterised by cystic degeneration within the spinal cord, which causes severe neurological deficits. The anaesthetic management is discussed. PMID:15321417

Agustí, M; Adàlia, R; Fernández, C; Gomar, C

2004-04-01

7

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

PubMed Central

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

McArthur, Ross A

1994-01-01

8

Arnold–Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest  

PubMed Central

Chiari in 1891 described a constellation of anomalies at the base of the brain inherited congenitally, the characteristic of which are (1) extension of a tongue of cerebellar tissue posterior to the medulla and cord that extends into the cervical spinal canal; (2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and (3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality. Chiari recognized four types of abnormalities. Presently, the term has come to be restricted to Chiari’s types I and II, that is, to cerebellomedullary descent without and with a meningomyelocele, respectively. The association of Arnold–Chairi malformation and high cervical cord infarction is unusual. The most common syndrome, anterior spinal artery syndrome (ASAS), is caused by interruption of blood flow to the anterior spinal artery, producing ischaemia in the anterior two-thirds of the cord, with resulting neurologic deficits. Causes of ASAS include aortic disease, postsurgical, sepsis, hypotension and thromboembolic disorders. The authors present an interesting case of cervical cord infarction due to anterior spinal artery thrombosis in a patient of type 1 Arnold–Chiari malformation without any of the above predisposing factors. PMID:22701030

Wani, Abdul Majid; Zayyani, Najah R; Al Miamini, Wail; Khoujah, Amer M; Alharbi, Zeyad; Diari, Mohd S

2011-01-01

9

Syringomyelia and Arnold-Chiari malformation associated with neck pain and left arm radiculopathy treated with spinal manipulation.  

PubMed

An 18-year-old female patient presented with left dominant neck pain after a motor vehicle collision. Her cervical spine MRI revealed syringomyelia with associated Type I Arnold-Chiari malformation. Some researchers have reported that these might be considered contraindications to spinal manipulation. Nevertheless, her benign and functional clinical examination suggested otherwise and she underwent four manipulative treatments in 2 weeks. By the end of the treatment plan and after 1-month follow-up, she was asymptomatic, no adverse effects were noted and her outcome assessment score decreased from 56% to 0%. This case illustrates that spinal manipulation may be a useful adjunctive treatment procedure for spinal pain, even in the presence of syringomyelia and Chiari malformation, which may not necessarily be a contraindication to spinal manipulation, when performed by a skilled and well-trained physician. PMID:25385566

Tieppo Francio, Vinicius

2014-01-01

10

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

11

Reoperation for Chiari Malformations  

Microsoft Academic Search

Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of

David Sacco; R. Michael Scott

2003-01-01

12

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.  

PubMed

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome. PMID:24387693

Peters, Tess; Perrier, Renee; Haber, Richard M

2014-01-01

13

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

14

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

PubMed Central

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

Sergent, Adam W.; Cofano, Gregory P.

2014-01-01

15

[Endotracheal intubation for a neonatal patient complicated with Arnold-Chiari malformation using a Pentax airway scope with a neonatal-type INTLOCK blade (ITL-N)].  

PubMed

Several previous reports have established the Pentax Airway Scope (Pentax AWS, S-100, HOYA-PENTAX, Tokyo, Japan) as an efficient tool for endotracheal intubation in adult patients. To date, however, there are no reports on its use with the INTLOCK blade for neonatal and pediatric patients. In this case, we performed tracheal intubation using a Pentax AWS attached to a neonatal-type INTLOCK blade (ITL-N) twice, 1 day and 10 days after birth, in a neonatal patient complicated with Arnold-Chiari malformation. The patient weighed 2.2 kg and was 47 cm tall. The first operation consisted of the repair of a meningocele ; the second was for the insertion of an indwelling Ommaya reservoir. We initially attempted tracheal intubation using a Miller's laryngoscope in the first operation and a Macintosh laryngoscope in the second, but we could not achieve tracheal intubation with either of these instruments. Upon switching to a Pentax AWS with an ITL-N, however, we successfully achieved tracheal intubation in both operations. Further research is needed to facilitate the effective use of the Pentax AWS in such cases. PMID:23697196

Hoshijima, Hiroshi; Takeuchi, Risa; Imamura, Toshikatsu; Iwase, Yoshinori; Nagasaka, Hiroshi; Matsumoto, Nobuyuki

2013-04-01

16

Radiological Evaluation of Myelomeningocele — Chiari II Malformation  

Microsoft Academic Search

Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a

Charles Raybaud; Elka Miller

17

Nocturnal apnea in Chiari type I malformation  

Microsoft Academic Search

A 4-year-old girl presented with sleep-disordered breathing. Her parents described breathing pauses of up to 20 s and progressive\\u000a tiredness during the day. Obstructive apneas from an enlarged adenoid were thought to be the most probable cause. However,\\u000a an adenotomy did not resolve the problem. Polysomnography demonstrated central apneas, and cerebral magnetic resonance imaging\\u000a revealed a Chiari type I malformation. We

Lonneke A. M. Aarts; Michèl A. A. P. Willemsen; Nele L. E. VandenBussche; René van Gent

2011-01-01

18

Stenogyria - not only in Chiari II malformation.  

PubMed

Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory. PMID:25282544

Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Br?goszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

2014-12-15

19

Imaging of Chiari type I malformation and syringohydromyelia.  

PubMed

Chiari malformations are anatomic anomalies that comprise a broad spectrum of neurologic conditions. The most common malformation, a Chiari type I malformation, can present with a variety of signs and symptoms, most frequently an occipital Valsalva-induced headache. Cranial and spinal magnetic resonance (MR) imaging is used to identify the degree of tonsillar descent and document the presence of syringohydromyelia. The advent of cine-MR flow imaging (cine as in "cinema") has provided new insight as to the dynamic process involved in the evolution of this pathophysiology. This article reviews the neuroimaging of this fascinating disorder. PMID:24287386

McVige, Jennifer W; Leonardo, Jody

2014-02-01

20

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. PMID:25065525

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

2015-03-01

21

Chiari Type I Malformation in a Pediatric Population  

PubMed Central

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

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

2011-01-01

22

Chiari type I malformation causing central apnoeas in a 4-month-old boy  

Microsoft Academic Search

Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of a Chiari type I malformation. Surgical repair resulted in complete

Mieke J. A. Van den Broek; Anne-Sophie Arbues; François Chalard; Nathalia M. Pinto Da Costa; Ha Trang; Georg Dorfmuller; Philippe P. Evrard; Isabelle Husson; Laurent J. Servais

2009-01-01

23

Children with Growth Hormone Deficiency and Chiari I Malformation: A Morphometric Analysis of the Posterior Cranial Fossa  

Microsoft Academic Search

Objective: The posterior fossa (PF) has been found to be small in various forms of Chiari malformation. Explanations involving a connection between growth hormone deficiency (GHD) and Chiari I malformation (CIM) have been proposed. However, to date, no quantitative analysis of the PF of patients with CIM and GHD has been performed. Our study was performed to determine the geometry

R. Shane Tubbs; John C. Wellons III; Matthew D. Smyth; Alfred A. Bartolucci; Jeffrey P. Blount; W. Jerry Oakes; Paul A. Grabb

2003-01-01

24

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

25

Optical Coherence Tomography in Patients with Chiari I Malformation  

PubMed Central

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

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

2015-01-01

26

Optical coherence tomography in patients with Chiari I malformation.  

PubMed

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

Figus, Michele; Posarelli, Chiara; Nasini, Francesco; Perrini, Paolo; Miccoli, Mario; Baggiani, Angelo; Ferreras, Antonio; Nardi, Marco

2015-01-01

27

Intradiploic occipital pseudomeningocele in a patient with remote history of surgical treatment of Chiari malformation.  

PubMed

An intradiploic CSF pseudocyst is a rare entity that has been described in association with trauma, as a sequela of untreated hydrocephalus, or occasionally as a congenital finding in older adults. The authors present the case of a woman with a remote history of a posterior fossa intradural procedure, in which she underwent Chiari malformation decompression, Silastic substitute-assisted duraplasty, and occipitocervical fusion; she presented 19 years later with recurrent symptoms of Chiari malformation. She was found to have an occipital intradiploic pseudomeningocele, arising within her dorsal occipitocervical fusion mass and resulting in dorsal hindbrain compression. She underwent a posterior fossa decompression and revision of her failed duraplasty, and she had a good recovery. This case demonstrates intradiploic CSF pseudomeningocele as a rare potential delayed complication of an intradural procedure for the treatment of Chiari malformation with occipitocervical fusion. PMID:25147975

Mahaney, Kelly B; Menezes, Arnold H

2014-11-01

28

Chiari type I malformation causing central apnoeas in a 4-month-old boy.  

PubMed

Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of a Chiari type I malformation. Surgical repair resulted in complete resolution of the symptoms, normal respiratory parameters during sleep and normal psychomotor development. This case illustrates a very early presentation of the Chiari type I malformation with central apnoeas and suggests that this aetiology should be considered in the differential diagnosis of central apnoeas in infants, especially when they are associated with other neurological sign or symptom. PMID:18783970

Van den Broek, Mieke J A; Arbues, Anne-Sophie; Chalard, François; Pinto Da Costa, Nathalia M; Trang, Ha; Dorfmuller, Georg; Evrard, Philippe P; Husson, Isabelle; Servais, Laurent J

2009-09-01

29

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

30

Surgical treatment of Chiari I malformation complicated with syringomyelia  

PubMed Central

The aim of this study was to evaluate the curative effects of various surgical procedures on Chiari I malformation (CMI) complicated with syringomyelia. A total of 185 patients with CMI complicated with syringomyelia who received treatment between January 1997 and December 2011 were recruited. All patients underwent posterior fossa decompression in which the lamina of the first cervical vertebra was removed, with the removal of the second or third depending on the severity of the cerebellar tonsil herniation. Of the patients, 76 underwent large-bone-window decompression and duraplasty, while 109 underwent small-bone-window decompression, displaced cerebellar tonsil resection and duraplasty. The curative effects of the different surgical procedures were analyzed retrospectively. Clinical symptoms were eliminated or improved in 156 patients (84.3%) by the time of discharge from hospital. A total of 148 patients were evaluated using magnetic resonance imaging (MRI) which revealed that the cisterna magna was reconstructed in 92 patients and spinal syrinx was reduced in 75. Follow-up was performed on 147 patients (79.5%) for between 3 months and 12 years. During the follow-up, symptoms were eliminated or improved in 110 patients (74.8%), not improved in 26 (17.7%) and deteriorated in 11 (7.5%). MRI was performed on 95 patients during follow-up examinations and the cisterna magna was reconstructed in 87 patients and spinal syrinx was reduced in 79. Small-bone-window decompression plus duraplasty is an effective surgical procedure for treating CMI complicated with syringomyelia and intraoperative cerebellar tonsillectomy significantly aids patient recovery. PMID:23251294

BAO, CHANGSHUN; YANG, FUBING; LIU, LIANG; WANG, BING; LI, DINGJUN; GU, YINGJIANG; ZHANG, SHULING; CHEN, LIGANG

2013-01-01

31

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

ERIC Educational Resources Information Center

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

Elam, Mary Jane; Vaughn, John A.

2011-01-01

32

Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome.  

PubMed

The purpose of this investigation was to evaluate the prevalence of Chiari malformation, cervical spine anomalies, and neurologic deficits in patients with velocardio-facial syndrome. This study was a prospective evaluation of 41 consecutive patients with velocardiofacial syndrome, documented by fluorescence in situ hybridization, between March of 1994 and September of 1998. The 23 girls and 18 boys ranged in age from 0.5 to 15.2 years, with a mean age of 6.7 years. Nineteen patients were assessed with magnetic resonance imaging, 39 underwent lateral cephalometric radiography, and all patients were examined for neurologic deficits. Eight of 19 patients (42 percent) had anomalies of the craniovertebral junction, including Chiari type I malformations (n = 4), occipitalization of the atlas (n = 3), and narrowing of the foramen magnum (n = 1). One patient with Chiari malformation required suboccipital craniectomy with laminectomy and decompression. Fourteen of 41 patients (34 percent) had demonstrated neurologic deficits; 10 patients (24 percent) had velar paresis (6 unilateral and 4 bilateral). Chiari malformations, cervical spine anomalies, and neurologic deficits are common in velocardiofacial syndrome. Because these findings may influence the outcome of surgical intervention, routine assessment of patients with velocardiofacial syndrome should include careful orofacial examination, lateral cephalometric radiography, and magnetic resonance imaging of the craniovertebral junction. PMID:10883607

Hultman, C S; Riski, J E; Cohen, S R; Burstein, F D; Boydston, W R; Hudgins, R J; Grattan-Smith, D; Uhas, K; Simms, C

2000-07-01

33

Bone Regrowth and Recurrence of Symptoms following Decompression in the Infant with Chiari II Malformation  

Microsoft Academic Search

The Chiari malformation is the leading cause of death in infants with myelodysplasia. While controversial, early operative decompression may halt or reverse the progression of symptoms. If symptoms recur after initial improvement, attention is directed to assuring shunt patency and the absence of hydromyelia and not to reassessment of the area of bone decompression. Three infants are presented who initially

Roger J. Hudgins; William R. Boydston

1995-01-01

34

MR evaluation of Chiari I malformations at 0.15 T.  

PubMed

Twelve patients with known or presumed Chiari I malformations and two with clinical diagnoses of multiple sclerosis were examined by magnetic resonance (MR) imaging. MR confirmed or established the diagnosis of Chiari I malformation in all 14 cases. The spin-echo technique with a short time to echo (TE = 40 msec) and a short time to recover (TR = 1000 msec) provided optimum imaging of tonsillar position, hydromyelia cavities, and cervicomedullary "kinking." Long TE (greater than 80 msec) and TR (greater than 2000 msec) increase the signal intensity of cerebrospinal fluid and may obscure the pathology. Sagittal, transaxial, and coronal images provided complementary data; sagittal and coronal views best imaged the abnormal spinal cord and tonsils, but slitlike cavities were best seen on transaxial images. Cervicomedullary kinking was found in 10 (71%) of 14 patients and in 90% of the hydromyelic patients. This high incidence suggests that in other radiologic techniques tonsillar herniation masks the kinking. Symptoms of the Chiari I malformation overlap those of demyelinating diseases and brain tumors. Our early experience suggests MR is the preferred noninvasive procedure for identifying Chiari I malformation. Moreover, the ability to portray the variable cavity morphology of hydromyelia directly offers the potential for improved shunt placement. PMID:3873794

Spinos, E; Laster, D W; Moody, D M; Ball, M R; Witcofski, R L; Kelly, D L

1985-06-01

35

Young onset Hemifacial Spasm in patients with Chiari type I malformation  

Microsoft Academic Search

Hemifacial spasm (HFS) resulting from Chiari type I malformation (CIM) is rare. We retrospectively evaluated five patients with CIM and HFS among a series of 103 subjects. The frequency of HFS associated to CIM was of 4.85%. The clinical profile did not differ from the classical primary cases except for young-onset development of facial spasms in patients with CIM. Three

Andre Carvalho Felício; Clecio de Godeiro Jr; Vanderci Borges; Sonia Maria de Azevedo Silva; Henrique Ballalai Ferraz

2008-01-01

36

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

PubMed

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

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

2012-01-01

37

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

38

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

39

Audio-vestibular manifestations of Chiari malformation and outcome of surgical decompression: a case report.  

PubMed

Sensorineural hearing loss, tinnitus, dizziness and ataxia are recognised symptoms associated with Chiari malformations but they are rarely the presenting complaints. Patients with such symptoms are frequently referred to otolaryngologists and audiological physicians. We report a case of a 13-year-old girl who presented complaining of tinnitus and impaired hearing, and was subsequently diagnosed as having a type I Chiari malformation. Pure tone audiogram showed a mild hearing impairment on the left side and the speech audiogram was normal. Auditory brain stem responses and the electronystagmography were abnormal. The patient underwent posterior fossa decompression following which her tinnitus disappeared, the hearing problem recovered and some of the abnormal electrophysiological parameters were corrected. PMID:8944883

Ahmmed, A U; Mackenzie, I; Das, V K; Chatterjee, S; Lye, R H

1996-11-01

40

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

PubMed

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

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

1997-09-01

41

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

PubMed Central

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

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

2014-01-01

42

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

PubMed Central

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

2014-01-01

43

Evidence of familial syringomyelia in discordant association with Chiari type I malformation.  

PubMed

We report a sister and two half brothers who presented with magnetic resonance imaging (MRI)-proven syringomyelia and associated Chiari type I malformation in two cases. The individuals have the same mother but two different fathers. The mother shows no clinical signs of syringomyelia. The two fathers died through unknown causes. In a third healthy son of the mother by a relationship with a third father syringomyelia was excluded by MRI. We believe that an autosomal-dominant predisposition is the primary factor in the appearance of syringomyelia in these cases. PMID:16834711

Robenek, M; Kloska, S P; Husstedt, I W

2006-07-01

44

Acute deterioration of a Chiari I malformation: an uncommon neurosurgical emergency  

Microsoft Academic Search

Objectives  Report and discuss acute neurological deterioration of Chiari I malformation (CMI), surgical treatment and timing, clinical\\u000a outcome and literature review.\\u000a \\u000a \\u000a \\u000a \\u000a Case report  We report a recent case of a 15-year-old girl admitted for an acute neurological deterioration caused by an undiagnosed hindbrain\\u000a herniation that required an urgent foramen magnum decompression and external ventricular drainage insertion. Moreover, we\\u000a report and discuss the

Benedetta Ludovica Pettorini; Anna Gao; Desiderio Rodrigues

2011-01-01

45

Partial Rhombencephalosynapsis and Chiari Type II Malformation in a Child: a True Association Supported by DTI Tractography  

Microsoft Academic Search

Partial rhombencephalosynapsis (PRECS) has been recently reported in association with Chiari II (CII). However, its existence\\u000a as a true malformation is challenged due to the anatomical changes potentially induced by CII. The aim of this report was\\u000a to investigate the contribution of midbrain\\/hindbrain tractography in this setting. A 13-year-old boy with a known CII malformation\\u000a and operated myelomeningocele was referred

Laura Merlini; Joel Fluss; Christian Korff; Sylviane Hanquinet

46

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

47

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

48

Chiari Malformation  

MedlinePLUS

... whether the brain stem is working correctly. Somatosensory evoked potential (SSEP) testing helps determine whether messages from the ... MORE ON THIS TOPIC Hydrocephalus Brain and Nervous System Scoliosis Your Brain & Nervous System Scoliosis Brain and ...

49

Chiari Malformation  

MedlinePLUS

... developing a tethered cord later in life. Spinal curvature is common among individuals with syringomyelia or CM Type I. Two types of spinal curvature can occur in conjunction with CMs: scoliosis, a ...

50

Duraplasty with freeze-dried cadaveric dura versus occipital pericranium for Chiari type I malformation: Comparative study  

Microsoft Academic Search

Summary  During the period from October 1, 1989 to October 1, 1995 a total of 26 cases of Chiari type I malformation not associated\\u000a with syringomyelia were attended in our Hospital. All patients underwent cranio-cervical decompression, with occipital craniectomy\\u000a and removal of the posterior arch of C1. In 3\\/26 (11.5%) cases an additional C2 laminectomy had to be performed and in

V. Vanaclocha; N. Saiz-Sapena

1997-01-01

51

The first posterior fossa decompression for Chiari malformation: the contributions of Cornelis Joachimus van Houweninge Graftdijk and a review of the infancy of "Chiari decompression".  

PubMed

Over the past several decades, our understanding of the pathophysiology of hindbrain hernias has markedly increased. Additionally, with the advent of MRI, diagnosis of these entities is common. Although the history of the discovery of what are now known as the Chiari malformations is well known, publications regarding the historical surgical treatment of these is, to our knowledge, not extant. Many have attributed the first successful patient series to Gardner in the 1950s. However, and unknown to many, the first description of a hindbrain decompression was in 1930 by the Dutchman Cornelis Joachimus van Houweninge Graftdijk. This neurosurgeon also added to our understanding the pathophysiology of hindbrain herniation and its relationship to raised intracranial pressure. The present paper reviews the contributions of this early pioneer of neurosurgery. PMID:21626007

Mortazavi, Martin M; Tubbs, R Shane; Hankinson, Todd C; Pugh, Jeffrey A; Cohen-Gadol, Aaron A; Oakes, W Jerry

2011-11-01

52

Task-Specific and General Cognitive Effects in Chiari Malformation Type I  

PubMed Central

Objective Our objective was to use episodic memory and executive function tests to determine whether or not Chiari Malformation Type I (CM) patients experience cognitive dysfunction. Background CM is a neurological syndrome in which the cerebellum descends into the cervical spine causing neural compression, severe headaches, neck pain, and number of other physical symptoms. While primarily a disorder of the cervico-medullary junction, both clinicians and researchers have suspected deficits in higher-level cognitive function. Design and Methods We tested 24 CM patients who had undergone decompression neurosurgery and 24 age- and education-matched controls on measures of immediate and delayed episodic memory, as well as three measures of executive function. Results The CM group showed performance decrements relative to the controls in response inhibition (Stroop interference), working memory computational speed (Ospan), and processing speed (automated digit symbol substitution task), but group differences in recall did not reach statistical significance. After statistical control for depression and anxiety scores, the group effects for working memory and processing speed were eliminated, but not for response inhibition. This response inhibition difference was not due to overall general slowing for the CM group, either, because when controls' data were transformed using the linear function fit to all of the reaction time tasks, the interaction with group remained statistically significant. Furthermore, there was a multivariate group effect for all of the response time measures and immediate and delayed recall after statistical control of depression and anxiety scores. Conclusion These results suggest that CM patients with decompression surgery exhibit cognitive dysfunction compared to age- and education-matched controls. While some of these results may be related to anxiety and depression (likely proxies for chronic pain), response inhibition effects, in particular, as well as a general cognitive deficit persisted even after control for anxiety and decompression. PMID:24736676

Allen, Philip A.; Houston, James R.; Pollock, Joshua W.; Buzzelli, Christopher; Li, Xuan; Harrington, A. Katherine; Martin, Bryn A.; Loth, Francis; Lien, Mei-Ching; Maleki, Jahangir; Luciano, Mark G.

2014-01-01

53

Sudden unexpected nocturnal death in Chiari type 1 malformation and potential role of opioid analgesics  

PubMed Central

Background: Chiari malformation type 1 (CM1) is a common congenital anomaly of the craniocervical junction. CM1 is reported to run a usually benign course and patients typically experience no symptoms or chronic, slowly progressive symptoms. However, recent reports indicate that a subset of patients with CM1 may present with acute deterioration and sudden unexpected death (SUD). We report a case of SUD during sleep in a young man with CM1, which we believe was related to the administration of common and therapeutic doses of narcotic analgesics for the management of pain. We will clarify the pathophysiology of acute deterioration and SUD in CM1 and the possibility that the adverse effects of opiate analgesics likely were the leading cause of death in our patient. Case Description: In this review, we present a 29-year-old male with worsening headache secondary to previously diagnosed CM1. The patient died suddenly and unexpectedly after administration of common and therapeutic doses of narcotic analgesics for the management of pain. Conclusion: The mechanism(s) of acute neurological deterioration and sudden death in patients with CM1 remains poorly understood. We believe the rapid fatal deterioration in our patient following administration of opioids suggests that this category of medication may cause sudden unexpected “neurogenic” cardiac death in CM1 patients by inducing sleep-related breathing difficulties and associated hypercapnia. Hypercapnia by further increasing intracranial pressure can result in a sudden pressure-induced decompensation of the cardiopulmonary control centers in the brain stem and cause instantaneous cardiorespiratory arrest. PMID:24778905

Roohi, Fereydoon; Gropen, Toby; Kula, Roger W.

2014-01-01

54

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes  

PubMed Central

Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. A putative genetic contribution to CMI is suggested by familial aggregation and twin studies. Experimental models and human morphometric studies have suggested an underlying paraxial mesoderm insufficiency. We performed a case-control association study of 303 tag single nucleotide polymorphisms (SNP) across 58 candidate genes involved in early paraxial mesoderm development in a sample of 415 CMI patients and 524 sex-matched controls. A subgroup of patients diagnosed with classical, small-PCF CMI by means of MRI-based PCF morphometry (n?=?186), underwent additional analysis. The genes selected are involved in signalling gradients occurring during segmental patterning of the occipital somites (FGF8, Wnt, and retinoic acid pathways and from bone morphogenetic proteins or BMP, Notch, Cdx and Hox pathways) or in placental angiogenesis, sclerotome development or CMI-associated syndromes. Single-marker analysis identified nominal associations with 18 SNPs in 14 genes (CDX1, FLT1, RARG, NKD2, MSGN1, RBPJ1, FGFR1, RDH10, NOG, RARA, LFNG, KDR, ALDH1A2, BMPR1A) considering the whole CMI sample. None of these overcame corrections for multiple comparisons, in contrast with four SNPs in CDX1, FLT1 and ALDH1A2 in the classical CMI group. Multiple marker analysis identified a risk haplotype for classical CMI in ALDH1A2 and CDX1. Furthermore, we analyzed the possible contributions of the most significantly associated SNPs to different PCF morphometric traits. These findings suggest that common variants in genes involved in somitogenesis and fetal vascular development may confer susceptibility to CMI. PMID:23437350

Urbizu, Aintzane; Toma, Claudio; Poca, Maria A.; Sahuquillo, Juan; Cuenca-León, Ester; Cormand, Bru; Macaya, Alfons

2013-01-01

55

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

56

Posterior fossa decompression and the cerebellum in Chiari type II malformation: a preliminary MRI study  

PubMed Central

Objectives Chiari type II malformation (CII) is a congenital deformity of the hindbrain. The posterior fossa and cerebellum are small in CII. The cerebellar atrophy is associated with cognitive and motor deficits. Brainstem compression occurs in some patients with CII for whom posterior fossa decompression may be life saving. The aim was to determine whether posterior fossa decompression can prevent or reduce the cerebellar atrophy in CII. Methods Cerebellar volumes and their tissue types (gray matter, white matter, and CSF volumes) from brain MRI were compared among four CII patients, aged 9.5 to 16.5 years, who had had posterior fossa decompression in infancy, 28 CII patients who had not had posterior fossa decompression, and ten age-matched normal controls. Parametric and non-parametric tests investigated group differences. Results Compared to controls, mean cerebellar volume was significantly smaller in CII patients (p<0.0001). Mean CSF volume within the cerebellar fissures and fourth ventricle was significantly smaller in patients without posterior fossa decompression compared to the CII patients who had the decompression, p=0.043. Mean CSF volume of the latter group was similar to the controls. Other cerebellar volumetric measurements did not differ between the CII groups. Conclusions Posterior fossa decompression normalizes CSF spaces within the posterior fossa in CII but does not prevent the cerebellar atrophy. The author proposes that surgical expansion of the posterior fossa should be considered in infants with CII who have a significantly small posterior fossa, to prevent or reduce the deficits associated with the cerebellar atrophy. PMID:21221976

2011-01-01

57

Abnormal movements associated with oropharyngeal dysfunction in a child with Chiari I malformation.  

PubMed

BackgroundChiari I malformations (CM I) are rare hindbrain herniations. Dysphagia and other oropharyngeal dysfunctions may be associated with CM I, but to our knowledge, no clinical presentation similar to ours has ever been reported. The purpose of this communication is to draw attention to a unique and atypical clinical presentation of a child with CM I.Case presentationA 7-year-old boy was evaluated for a two month history of atypical movements which would occur in the evening, and last for an hour after eating. These stereotypical movements with the head and chest bending forward and to the left side, accompanied by a grimace, were associated with sensation of breath locking without cyanosis. Pain and dysphagia were absent. The neurological examination was normal. The possibility of Sandifer syndrome posturing occurring with gastroesophageal reflux disease was considered but neither pain nor back hyperextension were associated with the atypical movements. Neither proton pump inhibitors (PPI) nor prokinetic agents improved his symptoms.Upper endoscopy and esophageal biopsy did not reveal eosinophilic esophagitis nor reflux esophagitis. Ear, throat and nose (ENT) exam was normal. A severe gastroparesis was demonstrated on milkscan study. Two 24 hour oesophageal pH probe studies pointed out severe gastroesophageal reflux (GER). High resolution manometric evaluation of the oesophagus revealed normal sphincter pressures and relaxations with no dysmotility of the esophageal body. Electroencephalography and polysomnography were normal. A brain magnetic resonance imaging (MRI) was performed and revealed a CM I: cerebellar tonsils extending to 12 mm, with syringomyelia (D4-D5).For a long period of time, the child¿s abnormal movements were considered to be nothing but tics and the CM I a fortuitous finding. Since the child remained symptomatic despite medical treatment, it was decided to proceed with surgery. One year after the onset of his symptoms. He underwent posterior fossa decompression with upper cervical laminectomy and expansion duroplasty. Postoperative MRI confirmed adequate decompression. His atypical posture and dyspnea completely resolved after surgery and he remains asymptomatic two years later.ConclusionChildren may have atypical presentations of CM I. Thus, CM I diagnosis should be considered in unexplained atypical oropharyngeal dysfunctions. PMID:25491728

Berthet, Stéphanie; Crevier, Louis; Deslandres, Colette

2014-12-10

58

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

59

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

PubMed Central

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

60

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

61

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

PubMed

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

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

2015-03-01

62

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

PubMed Central

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, no such role of FOXP1 has been established to date. Recently, a child was reported who presented with a 3p13-14.1 deletion of four genes, including FOXP1, and a constellation of deficits that included speech delay. In this study, we report the case of a patient with a single deletion of FOXP1. This patient presented with speech and motor developmental delays, a Chiari I malformation, and epileptiform discharges. The nature of the speech deficit is different from the primary oromotor verbal dyspraxia found in patients with FOXP2 deficiency. The patient's developmental deficits may support a role for FOXP1 in the development of verbal and motor skills. PMID:20571508

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

2010-01-01

63

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

PubMed

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

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

2015-03-01

64

Chiari I malformation and intra-cranial hypertension:a case-based review  

Microsoft Academic Search

Objective  To present clinical and morphological findings before and after surgery in a child with Chairi I malformation (CMI) and intra-cranial\\u000a hypertension (IH). The literature is reviewed and pathophysiologic factors are discussed.\\u000a \\u000a \\u000a \\u000a Clinical presentation  A 13-year-old obese boy with a 3-week history of headaches, neck pain, torticollis and progressive visual deterioration was\\u000a admitted. Bi-lateral chronic papilloedema and decrease in visual acuity were

Senta Kurschel; Richard Maier; Verena Gellner; Hans Georg Eder

2007-01-01

65

Physical model from 3D ultrasound and magnetic resonance imaging scan data reconstruction of lumbosacral myelomeningocele in a fetus with Chiari II malformation.  

PubMed

?Rapid prototyping is becoming a fast-growing and valuable technique for physical models in case of congenital anomalies. Manufacturing models are generally built from three-dimensional (3D) ultrasound, computed tomography, and fetal magnetic resonance imaging (MRI) scan data. Physical prototype has demonstrated to be clinically of value in case of complex fetal malformations and may improve antenatal management especially in cases of craniosynostosis, orofacial clefts, and giant epignathus. In addition, it may enhance parental bonding in visually impaired parents and have didactic value in teaching program. Hereby, the first 3D physical model from 3D ultrasound and MRI scan data reconstruction of lumbosacral myelomeningocele in a third trimester fetus affected by Chiari II malformation is reported. PMID:25686895

Werner, Heron; Lopes, Jorge; Tonni, Gabriele; Araujo Júnior, Edward

2015-04-01

66

Effect of craniovertebral decompression on CSF dynamics in Chiari malformation Type I studied with computational fluid dynamics  

PubMed Central

Object The effect of craniovertebral decompression surgery on CSF flow dynamics in patients with Chiari malformation Type I (CM-I) has been incompletely characterized. The authors used computational fluid dynamics to calculate the effect of decompression surgery on CSF flow dynamics in the posterior fossa and upper cervical spinal canal. Methods Oscillatory flow was simulated in idealized 3D models of the normal adult and the CM-I subarachnoid spaces (both previously described) and in 3 models of CM-I post–craniovertebral decompressions. The 3 postoperative models were created from the CM model by virtually modifying the CM model subarachnoid space to simulate surgical decompressions of different magnitudes. Velocities and pressures were computed with the Navier-Stokes equations in Star-CD for multiple cycles of CSF flow oscillating at 80 cycles/min. Pressure gradients and velocities were compared for 8 levels extending from the posterior fossa to the C3–4 level. Relative pressures and peak velocities were plotted by level from the posterior fossa to C3–4. The heterogeneity of flow velocity distribution around the spinal cord was compared between models. Results Peak systolic velocities were generally lower in the postoperative models than in the preoperative CM model. With the 2 larger surgical defects, peak systolic velocities were brought closer to normal model velocities (equal values at C-3 and C-4) than with the smallest surgical defect. For the smallest defect, peak velocities were decreased, but not to levels in the normal model. In the postoperative models, heterogeneity in flow velocity distribution around the spinal cord increased from normal model levels as the degree of decompression increased. Pressures in the 5 models differed in magnitude and in pattern. Pressure gradients along the spinal canal in the normal and CM models were nonlinear, with steeper gradients below C3–4 than above. The CM model had a steeper pressure gradient than the normal model above C3–4 and the same gradient below. The postoperative models had lower pressure gradients than the CM model above C2–3. The most conservative decompression had lower pressure gradients than the normal model above C2–3. The two larger decompression defects had CSF pressure gradients below those in the normal model above C2–3. These 2 models had a less steep gradient above C-3 and a steeper gradient below. Conclusions In computer simulations, craniovertebral surgical defects generally diminished CSF velocities and CSF pressures. PMID:25084032

Linge, Svein O.; Mardal, Kent-A.; Helgeland, Anders; Heiss, John D.; Haughton, Victor

2014-01-01

67

Chiari Malformation: Treatment  

MedlinePLUS

... the cerebellum slumping down even further into the spinal area after surgery. Infections can range from superficial to serious. Additional ... not feeling up to par, doubt sucess of surgery 1 YEAR POST-OP Some patients are back to normal, full activity, no restrictions Others may still feel weak, ...

68

Chiari Malformation: Diagnosis  

MedlinePLUS

... Movement against resistance, less than normal Movement against gravity, but not resistance Full range of motion, not against gravity Some visible movement No muscle movement Description Normal ...

69

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

70

Comparison of dural grafts in Chiari decompression surgery: Review of the literature  

PubMed Central

Background: Decompression of Chiari malformation is a common procedure in both pediatric and adult neurosurgery. Although the necessity for some bony removal is universally accepted, other aspects of Chiari surgery are the subject of debate. The most controversial points include the optimal amount of bony removal, the use of duraplasty (and the type of material), the need for subarachnoid dissection, and the need for tonsillar shrinkage. Material and Methods: We critically reviewed the literature to elucidate the risks and benefits of different graft types and to clarify optimal treatment options therein. Based on our search results, 108 relevant articles were identified. With specific inclusion and exclusion criteria, we noted three studies that directly compared two tlpes of dural substitutes in Chiari malformation surgery. Results: Our review did not support the superiority of either autologous or nonautologous grafts when duraplasty is employed. Our institutional experience, however, dictates that when the pericranium is available and of good quality, it should be utilized for duraplasty. It is non-immunogenic, inexpensive, and capable of creating a watertight closure with the dura. Conclusions: Discrepancies between the three comparative studies analyzed are likely attributable to increases in pericranial quality and thickness with maturity. Future randomized studies with large numbers and the power to resolve differences in the relatively low rates of complications in Chiari surgery are warranted. PMID:20890412

Abla, Adib A.; Link, Timothy; Fusco, David; Wilson, David A.; Sonntag, Volker K.H.

2010-01-01

71

Brain Malformations  

MedlinePLUS

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

72

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

73

Expansion of Chiari I-associated syringomyelia after posterior-fossa decompression  

Microsoft Academic Search

Chiari I malformation (CMI) is an abnormality that involves caudal herniation of the cerebellar tonsils into the foramen magnum.\\u000a CMI has been shown to be closely associated with the development of syringomyelia (SM). Objects: Several theories have emerged to explain the apparent correlation between the existence of CMI with subsequent development\\u000a of SM. However, the exact mechanism of the evolution

Ziv Gil; Sujay Rao; Shlomo Constantini

2000-01-01

74

Malformed Frogs  

NSDL National Science Digital Library

This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.

Twin Cities Public Television, Inc.

2005-01-01

75

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...

76

Chiari's network: review of the literature.  

PubMed

The Chiari network, present in approximately 2% of the population, and is a reticulated network of fibers originating from the Eustachian connecting to different parts of the right atrium. Its presence results from incomplete reabsorption of the right valve of the sinus venosus. Chiari's network is often clinically insignificant. However, it has been reported to be involved in the pathogenesis of thromboembolic disease, endocarditis, arrhythmias, and entrapment of catheters upon percutaneous intervention. While initially discovered and researched using autopsy dissections, Chiari's network is often found as an incidental finding on diagnostic imaging studies, thus providing new methods for studying its incidence and clinical significance. PMID:20198476

Loukas, Marios; Sullivan, Ashley; Tubbs, R Shane; Weinhaus, Anthony J; Derderian, Trevor; Hanna, Michael

2010-12-01

77

American Syringomyelia & Chiari Alliance Project  

MedlinePLUS

... Malformation • Syringomyelia • Newsletter • Medical Articles • Related Disorders • BJO Scholarships • Patient Handbook • Get Free Info • BJO Equipment • Online ... Professional Login • Newsletter • Syringomyelia • Create an Account • BJO Scholarships • Medical Articles • BJO Equipment • Related Disorders • Parent Resources • ...

78

Arnold Schwarzenegger CERTS MICROGRID  

E-print Network

Arnold Schwarzenegger Governor CERTS MICROGRID LABORATORY TEST BED PIERFINALPROJECTREPORT Prepared, U.S. Department of Energy Richard DeBlasio and Benjamin Kroposki, National Renewable Energy Reliability Technology Solutions (CERTS). 2008. CERTS Microgrid Laboratory Test Bed. California Energy

79

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...

80

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

81

Cerebral Cavernous Malformation  

MedlinePLUS

NINDS Cerebral Cavernous Malformation Information Page Synonym(s): Cavernomas, Cavernous Angioma, Congenital Vascular Cavernous Malformations, Familial Hemangioma, Nevus Cavernosus, Vascular Erectile Tumor, Cavernous Malformation Table of Contents (click to jump to sections) ...

82

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

83

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

84

Budd–Chiari Syndrome Following Laparoscopic Cholecystectomy  

PubMed Central

Patients with thrombophilic disorder while undergoing intra-abdominal surgery may develop splanchnic vein thrombosis which can have dire consequences. Here we report a case of a 38-year-old female who developed acute Budd–Chiari syndrome after a laparoscopic cholecystectomy. She had polycythemia vera which was not diagnosed before surgery. In this report we want to highlight presurgical evaluation of routine biochemical tests and ultrasonography suggestive of myeloproliferative disorders were missed which led to the Budd–Chiari syndrome. We recommend a meticulous look at the routine evaluation done prior to cholecystectomy is essential.

Amarapurkar, Pooja D.; Parekh, Sunil J.; Sundeep, Punamiya; Amarapurkar, Deepak N.

2013-01-01

85

An unusual presentation of a right atrial Chiari network.  

PubMed

In 1897, the anatomist Chiari described a structure in the right atrium connected to the Eustachian valve identified as the embryological vestige of the right valve of the sinus venosus. The discovery of a mass in the right atrium obliges the clinician to perform a broad differential diagnosis among a tumour, vegetations on the tricuspid valve, an atrial thrombus and Chiari network. We present a case of Chiari network in a 55-year-old Italian woman. PMID:18006092

Patanè, Salvatore; Anfuso, Carmelo; Marte, Filippo; Minutoli, Fabio; Di Bella, Gianluca; Coglitore, Sebastiano

2009-02-01

86

[Midline-malformations of brain shown by computed tomography (author's transl)].  

PubMed

The so-called midline-malformations of the brain which include alterations of ventricles or arachnoid spaces formerly only were found by invasive procedures performed because of their various clinical signs. Since cranial computerized tomography is available, by this new noninvasive method all these disturbances can be diagnosed safely. The paper is referring to the most frequent and essential exponents of these midline-malformations together with their main features in anatomy, pathomorphology, clinical and radiological signs. The persistent performed cavities especially the cavum septi pellucidi, the cavum Vergae and the cavum veli interpositi, additionally the agenesis of the corpus callosum, the Dandy-Walker-syndrome and the Chiari-malformations are described by typical cases. In conclusion the reliability of diagnosis in all cases of midline-malformations will be mostly sufficient by plain axial computed tomograms due to very clearly defined unmistakable pictures. PMID:7302205

Ratzka, M; Sörensen, N; Wodarz, R

1981-11-01

87

Arnold Schwarzenegger CERTS MICROGRID  

E-print Network

Arnold Schwarzenegger Governor CERTS MICROGRID LABORATORY TEST BED Technical Advisory Committee Microgrid Test Bed Project 30 April 2008 Lawrence Berkeley National Laboratory Building 90 Room 4133 1 and Steve Waslo, U.S. Department of Energy Ben Kroposki, National Renewable Energy Laboratory Mohammed

88

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

89

Arnold Hague's Bridle  

USGS Multimedia Gallery

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

90

Anorectal malformations  

PubMed Central

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, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life. PMID:17651510

Levitt, Marc A; Peña, Alberto

2007-01-01

91

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

92

Complications of Chiari and Salter osteotomies a cadaver study  

Microsoft Academic Search

Previous investigations of the Chiari and Salter osteotomies showed that intraoperative vessel and nerve injuries are described repeatedly in the case of both pelvic osteotomies. The aim of our investigations was the exposure of each operation step in anatomic specimens to show the anatomic landmarks and potential risks. We performed nine Chiari osteotomies and five Salter osteotomies on formalin-fixed cadavers.

K. Birnbaum; A. Pastor; A. Prescher; K.-D. Heller

2001-01-01

93

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 diet. Nearly 18 months later, Mr. Arnold was cancer free. "I knew that my life had been spared so

Almor, Amit

94

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

Federal Register 2010, 2011, 2012, 2013, 2014

...containment in the design basis loss-of-coolant...containment integrated leakage...Arnold Energy Center (Duane Arnold...the overall integrated leakage rate...consequences of design-basis accidents...Arnold Energy Center. The reactor...the overall integrated leakage rate...Arnold Energy Center, once as...Arnold's revised......

2010-04-05

95

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

96

Budd-Chiari syndrome and liver transplantation.  

PubMed

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

2015-02-01

97

Changes in the pelvis after the chiari and salter osteotomies  

Microsoft Academic Search

Pelvic osteotomies were simulated on a macerated female pelvis using the techniques of Chiari and Salter. The effect of varying amounts of medial or angular displacement upon the actual and radiological displacement of the acetabulum were then measured and compared.

W. Kiisswetter; H. Magers

1985-01-01

98

Transjugular intrahepatic portosystemic shunt (TIPSS) for Budd Chiari syndrome.  

PubMed

We report a four year old boy who presented with liver failure secondary to anti-thrombin III deficiency related Budd Chiari syndrome. He was treated with TIPSS (transjugular intrahepatic porto systemic shunt) which reversed the encephalopathy, normalised the liver function and improved growth, pre-empting the need for a liver transplantation. This is the first reported case of TIPSS in a child with a fulminant presentation of Budd-Chiari Syndrome. PMID:20622284

Hasija, R P; Nagral, A; Marar, S; Bavdekar, A R

2010-06-01

99

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY Citation: USDA Forest Service, Pacific Southwest Research Station. 2009. Biomass to Energy: Forest PRODUCTION, AND OTHER BENEFITS PIERFINALPROJECTREPORT Prepared For: California Energy Commission Public

100

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

101

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

102

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

103

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

104

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

105

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

106

Michael L. Arnold Publications PUBLICATIONS Books  

E-print Network

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

Arnold, Jonathan

107

Numerical simulations of the pulsating flow of cerebrospinal fluid flow in the cervical spinal canal of a Chiari patient.  

PubMed

The flow of cerebrospinal fluid (CSF) in a patient-specific model of the subarachnoid space in a Chiari I patient was investigated using numerical simulations. The pulsating CSF flow was modeled using a time-varying velocity pulse based on peak velocity measurements (diastole and systole) derived from a selection of patients with Chiari I malformation. The present study introduces the general definition of the Reynolds number to provide a measure of CSF flow instability to give an estimate of the possibility of turbulence occurring in CSF flow. This was motivated by the fact that the combination of pulsating flow and the geometric complexity of the spinal canal may result in local Reynolds numbers that are significantly higher than the commonly used global measure such that flow instabilities may develop into turbulent flow in these regions. The local Reynolds number was used in combination with derived statistics to characterize the flow. The results revealed the existence of both local unstable regions and local regions with velocity fluctuations similar in magnitude to what is observed in fully turbulent flows. The results also indicated that the fluctuations were not self-sustained turbulence, but rather flow instabilities that may develop into turbulence. The case considered was therefore believed to represent a CSF flow close to transition. PMID:24529910

Helgeland, Anders; Mardal, Kent-Andre; Haughton, Victor; Reif, Bjørn Anders Pettersson

2014-03-21

108

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

PubMed

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

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

2014-01-01

109

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY, 2008 Acknowledgments Funding for this work was provided by the Public Interest Energy Research program at the California Energy Commission (contract Energy Commission-500-03-019). Substantial in-kind resources were

110

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY;12-2 #12;Appendix 12: Biomass to Energy Project Team, Committee Members and Project Advisors Research Team. Nechodom's background is in biomass energy policy development and public policy research. Peter Stine

111

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY and Electricity 1. Report to the Biomass to Energy Project (B2E) Principal Authors: Dennis Schuetzle, TSS;10-2 #12;Appendix 10: Power Plant Analysis for Conversion of Forest Remediation Biomass to Renewable Fuels

112

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY or recommendations of the study. 1. INTRODUCTION 1.1 Domain Description The study area for the Biomass to Energy (B2 and environmental costs and benefits of using forest biomass to generate electrical power while changing fire

113

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

Arnold Schwarzenegger Governor BIOMASS TO ENERGY: FOREST MANAGEMENT FOR WILDFIRE REDUCTION, ENERGY Informatics Group, LLC Notice of Change in Scenario Naming Conventions Key assumptions, modeling structures three management scenarios. Fire modeling outputs included the number of acres in three classes of fire

114

Arnold Schwarzenegger BIOMASS TO ENERGY  

E-print Network

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

115

Arnold Schwarzenegger THE CARBON DIOXIDE  

E-print Network

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

116

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

117

Vladimir Arnold Boris Khesin and Serge Tabachnikov,  

E-print Network

in His Own Words In 1990 the second author interviewed V. Arnold for a Russian magazine Kvant (Quantum: The attitude of society (not only in the USSR) to fundamental science in general, and to mathe- matics pseudoscience" in the former Soviet Union. 378 Notices of the AMS Volume 59, Number 3 #12;Vladimir Arnold, circa

Berry, Michael Victor

118

Advanced alveolar echinococcosis disease associated with Budd–Chiari syndrome  

PubMed Central

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

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

2015-01-01

119

ARNOLD MESA ROADLESS AREA, ARIZONA.  

USGS Publications Warehouse

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

Wolfe, Edward W.; McColly, Robert A.

1984-01-01

120

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

121

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

122

Arnold’s web and diffusion in the Stark-Quadratic-Zeeman problem  

Microsoft Academic Search

The Arnold web and the Arnold diffusion arise when an integrable Hamiltonian system is slightly perturbed: the first concerns\\u000a the peculiar topology characterizing the set of the resonance lines in phase space, the latter the extremaly slow motion (if\\u000a any) along these lines. While Arnold has proved the possibility of diffusion, it is still unknown if the phenomenon is generic

B. Cordani

2008-01-01

123

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.  

PubMed

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

Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; 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

2007-05-25

124

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

125

Arnold Schwarzenegger DEVELOPING WAVE ENERGY IN  

E-print Network

-Related Environmental Research Neal Fishman Ocean Program Manager Mike Gravely Office Manager Drew Bohan Energy Systems Energy Commission, PIER Energy-Related Environmental Research Program & California Ocean ProtectionArnold Schwarzenegger Governor DEVELOPING WAVE ENERGY IN COASTAL CALIFORNIA: POTENTIAL SOCIO

126

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

127

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

128

Management strategy for facial venous malformations  

PubMed Central

Venous malformations (VMs) are slow-flow vascular malformations, caused by abnormalities in the development of the veins. Venous malformations vary in size and location within the body. When the skin or tissues just under the skin are affected, they appear as slightly blue-colored skin stains or swellings. These can vary in size from time to time because of swelling within the malformation. As these are vascular malformations, they are present at birth and grow proportionately with the child. Venous malformations can be very small to large in size, and sometimes, can involve a significant area within the body, When the venous malformation is well localized, this may cause localized swelling, however, when the venous malformation is more extensive, there may be more widespread swelling of the affected body part. Some patients with venous malformations have abnormal blood clotting within the malformation. Most venous malformations cause no life-threatening problems for patients. Some venous malformations cause repeated pain due to intermittent swelling and congestion of the malformation or due to the formation of blood clots within the malformation. Rarely, venous malformations may be part of a syndrome (an association of several clinically recognizable features) or be linked to an underlying genetic abnormality. We present 12 cases of venous malformations of the head and neck area, which have been managed at our hospital. PMID:25298729

Kumar, Shailendra; Kumar, Vijay; Kumar, Sanjeev; Kumar, Surender

2014-01-01

129

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

130

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

131

Best Practices in Nutrition for Children With Myelomeningocele  

Microsoft Academic Search

Children born with myelomeningocele (MMC), the most severe form of spina bifida, face multiple challenges throughout their life span. Neurogenic bowel, neurogenic bladder, Arnold-Chiari II malformation, and hydrocephalus are common complications that have implications for elimination, feeding, and learning. Nutrition education and intervention that use the concepts of family-centered care beginning in infancy and continuing throughout childhood, adolescence, and adulthood

Wendy Wittenbrook

2010-01-01

132

Progressive tentorial cavernous malformation  

PubMed Central

Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions. PMID:22439109

Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro

2012-01-01

133

Pediatric dural arteriovenous malformations.  

PubMed

Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128

Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia

2014-07-01

134

[Unusual presentation of rib malformation].  

PubMed

Rib malformation and anatomical variations are not well known and are still often underdiagnosed. Usually, rib malformations are fortuitously discovered. We describe here the case of a girl, 4 years and 4 months old, who presented at the emergency unit for fever and an anterior tumefaction of the ribcage, without any other symptoms. She was eupneic with a normal pulmonary auscultation and viral tonsillitis with a negative streptococcus test. The thoracic tumefaction was parasternal, painless, and fixed and measured approximately 2.5 × 2cm. Ultrasound findings consisted of a duplicated and hypoechogenic hypertrophy of the sterno-costal cartilage of the 4th left rib. Magnetic resonance imaging (MRI) confirmed the diagnosis of chondral bifidity of the sterno-costal junction of the 4th left rib. Fever, due to the viral tonsillitis, disappeared after 4 days. Rib malformations are rare, often anterior, unilateral, and preferentially located on the 3rd or the 4th rib. The main malformative rib lesions are bifid ribs, rib spurs, and widened ribs. Very rarely, they can be associated with Gorlin-Goltz syndrome or with other malformations such as VATER complex. The main differential diagnoses of these rib malformations are traumatic, tumoral, and infectious etiologies. In case of tumoral diseases, the topography of the lesion focuses the etiologic diagnosis: whereas an anterior and cartilaginous lesion is always benign, a lateral or posterior lesion can be an Ewing sarcoma. Rib malformation investigation consists in meticulous questioning, a complete clinical examination looking for any associated anomaly, completed by basic imaging explorations such as plain thoracic radiography focused on the ribcage and ultrasound. Finally, complementary computerized tomography or preferably MRI, depending on the anatomic location of the lesion, confirms the final diagnosis, as presented in our case report, and removes any uncertainty. PMID:23037576

Cosson, M-A; Breton, S; Aprahamian, A; Grevent, D; Cheron, G

2012-11-01

135

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

136

Intralesional radiofrequency in venous malformations.  

PubMed

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

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

2015-03-01

137

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

PubMed

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

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

2014-01-01

138

Intracranial vascular malformations: MR and CT imaging  

SciTech Connect

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

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

1985-08-01

139

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

140

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

141

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

142

Arnold Schwarzenegger REFINING ESTIMATES OF WATER-  

E-print Network

Arnold Schwarzenegger Governor REFINING ESTIMATES OF WATER- RELATED ENERGY USE IN CALIFORNIA environmentally safe, affordable, and reliable energy services and products to the marketplace. The PIER Preferred Advanced Generation · Industrial/Agricultural/Water EndUse Energy Efficiency · Renewable

143

Arnold Schwarzenegger CLIMATE CHANGE IMPLICATIONS FOR  

E-print Network

for Managing Northern California Water Resources in the Latter 21st Century. California Energy Commission environmentally safe, affordable, and reliable energy services and products to the marketplace. The PIER ProgramArnold Schwarzenegger Governor CLIMATE CHANGE IMPLICATIONS FOR MANAGING NORTHERN CALIFORNIA WATER

144

Congratulations to Vladimir Igorevich Arnol'd  

NASA Astrophysics Data System (ADS)

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

2007-06-01

145

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

146

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

147

Amphibian Population Declines and Malformations  

E-print Network

1 Amphibian Population Declines and Malformations Matthew J. Gray University of Tennessee Hyla regilla, ORBufo periglenes, CR Extinct, 1989 Worldwide Amphibian Population Declines Global Amphibian of Amphibian Declines Prior 1970s: 1970-mid-1980s: Late 80s-Now: ·Few extinctions; some localized die-offs ·Few

Gray, Matthew

148

Classification and diagnosis of ear malformations  

PubMed Central

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

Bartel-Friedrich, Sylva; Wulke, Cornelia

2008-01-01

149

Arnold Pick and German neuropsychiatry in Prague.  

PubMed

Circumscribed focal atrophy with frontal lobe dementia and progressive aphasia, as described originally by Arnold Pick, has been recognized recently as being much more common than previously believed. Although Pick disease became linked with argyrophilic inclusions (Pick bodies) and swollen neurons (Pick cells), the majority of focal atrophies have findings that are a variation of the classic histologic features. We discuss Pick's background and the circumstances that led to his major contributions to the study of behavioral neurology. We also review his original articles, the articles that subsequently established the entity of Pick disease, and historical documents pertaining to the continuation of German-language education in Prague after Prague's independence from the Austro-Hungarian monarchy. Arnold Pick's life and career exemplify the integration of neurology, psychiatry, and neuropathology, which represents one of the major contributions of German neuropsychiatry to the study of the nervous system. Pick is a major intellectual ancestor of present-day neurology. PMID:8815860

Kertesz, A; Kalvach, P

1996-09-01

150

Arteriovenous malformations in the brain  

Microsoft Academic Search

Opinion statement  Arteriovenous malformations (AVM) are a leading cause of intracerebral hemorrhage, especially among the young. Because they\\u000a pose a lifelong risk of serious bleeding, definitive treatment to obliterate the AVM should be pursued in the majority of\\u000a patients. Microsurgical resection of a small AVM located in the superficial or noneloquent brain achieves high cure rates\\u000a with low morbidity, and is

Glenn D. Graham

2002-01-01

151

Interventional therapeutic techniques in Budd-Chiari syndrome  

SciTech Connect

Purpose. To analyze the results obtained with percutaneous therapeutic procedures in patients with Budd-Chiari syndrome (BCHS). Methods. Between August 1991 and April 1993, seven patients with BCHS were treated in our hospital. Three presented with a congenital web; in another three cases the hepatic veins and/or the inferior vena cava (IVC) were compromised after major hepatic surgery; one patient presented with a severe stenosis of the intrahepatic IVC due to hepatomegaly. Results. One of the patients with congenital web has required several new dilatations due to restenosis; one patient required a transjugular intrahepatic portosystemic shunt procedure while awaiting a liver transplantation. The two postsurgical patients with stenosed hepatic veins did not require any new procedure after the placement of metallic endoprostheses. However, the patient with liver transplantation presented IVC restenosis after balloon angioplasty that required the deployment of metallic endoprostheses. In the patient with hepatomegaly a self-expandable prosthesis was placed in the intrahepatic portion of the IVC before (4 months) a liver transplantation. Conclusion. Interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with BCHS. For IVC stenoses, the results obtained with balloon angioplasty are at least as good as those obtained with surgery.

Bilbao, Jose Ignacio; Pueyo, Jesus Ciro; Longo, Jesus Maria; Arias, Mercedes [Universidad de Navarra, Department of Radiology, Clinica Universitaria, Facultad de Medicina (Spain); Herrero, Jose Ignacio [Universidad de Navarra, Department of Internal Medicine, Clinica Universitaria, Facultad de Medicina (Spain); Benito, Alberto; Barettino, Maria Dolores; Perotti, Juan Pablo [Universidad de Navarra, Department of Radiology, Clinica Universitaria, Facultad de Medicina (Spain); Pardo, Fernando [Universidad de Navarra, Department of Surgery, Clinica Universitaria, Facultad de Medicina (Spain)

1997-03-15

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

Thomas R. Arnold Biography Head of Americas -Real Estate  

E-print Network

Thomas R. Arnold Biography Head of Americas - Real Estate Thomas (Tom) Arnold joined ADIA as Head of Americas - Real Estate in 2009 and is based in Abu Dhabi. As Head of Americas - Real Estate, Tom of the US investment team. He is also a member of ADIA's Executive Committee and Real Estate Steering

Lotko, William

154

2. Assistent bei Arnold Sommerfeld und bei David Hilbert  

E-print Network

Niels Bohr (1885 ­ 1962). 21 Arnold Sommerfeld: Atombau und Spektrallinien. Friedr. Vieweg & Sohn. Aufl. von Band 2, Harry Deutsch, Frankfurt 1978. 11 #12;Arnold Sommerfeld (l.) mit Niels Bohr (r.) im ganze Serie von ¨uberarbeiteten und erg¨anzten Auflagen erlebte, machte die Bohr- Sommerfeldsche

Alsmeyer, Gerold

155

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

156

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

157

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Megalencephaly-capillary malformation syndrome On this page: Description Genetic changes ... Glossary definitions Reviewed February 2014 What is ... malformation syndrome? Megalencephaly-capillary malformation syndrome (MCAP) is ...

158

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. PMID:25624933

Gupta, Rakesh; Kayal, Akshat

2014-01-01

159

Arnold A. Lazarus (1932-2013).  

PubMed

Arnold A. Lazarus, distinguished professor emeritus at the Graduate School of Applied and Professional Psychology, Rutgers University, passed away on October 1, 2013. He is regarded as one of the founders of behavior therapy and one of its leading practitioners and teachers. Throughout his career Lazarus enjoyed the rare distinction of being one of the most influential, creative, and highly regarded clinical practitioners in the field of clinical psychology. To those fortunate to have been his students, colleagues, or friends, Lazarus's intelligence, creativity, kindness, and mischievous and often irreverent wit made him very special indeed. PMID:25197839

Davison, Gerald C; Wilson, G Terence

2014-09-01

160

Intramedullary spinal cord cavernous malformations.  

PubMed

Although originally the subject of rare case reports, intramedullary spinal cord cavernous malformations (CMs) have recently surfaced in an increasing number of case series and natural history reports in the literature. The authors reviewed 27 publications with 352 patients to consolidate modern epidemiological, natural history, and clinical and surgical data to facilitate decision making when managing these challenging vascular malformations. The mean age at presentation was 42 years without a sex predilection. Thirty-eight percent of the cases were cervical, 57% thoracic, 4% lumbar, and 1% unspecified location. Nine percent of the patients had a family history of CNS CMs. Twenty-seven percent of the patients had an associated cranial CM. On presentation 63% of the patients had motor deficits, 65% had sensory deficits, 27% had pain, and 11% had bowel or bladder dysfunction. Presentation was acute in 30%, recurrent in 16%, and progressive in 54% of cases. An overall annual hemorrhage rate was calculated as 2.5% for 92 patients followed up for a total of 2571 patient-years. Across 24 reviewed surgical series, a 91% complete resection rate was found. Transient morbidity was seen in 36% of cases. Sixty-one percent of patients improved, 27% were unchanged, and 12% were worse at the long-term follow-up. Using this information, the authors review surgical nuances in treating these lesions and propose a management algorithm. PMID:20809755

Gross, Bradley A; Du, Rose; Popp, A John; Day, Arthur L

2010-09-01

161

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.

Northern Prairie Wildlife Research Center.

1997-01-01

162

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.  

PubMed

Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review of published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM. PMID:18000912

Conway, Robert L; Pressman, Barry D; Dobyns, William B; Danielpour, Moise; Lee, John; Sanchez-Lara, Pedro A; Butler, Merlin G; Zackai, Elaine; Campbell, Lindsey; Saitta, Sulagna C; Clericuzio, Carol L; Milunsky, Jeff M; Hoyme, H Eugene; Shieh, Joseph; Moeschler, John B; Crandall, Barbara; Lauzon, Julie L; Viskochil, David H; Harding, Brian; Graham, John M

2007-12-15

163

Arnold B. Arons (1916-2001)  

NASA Astrophysics Data System (ADS)

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

Warren, Bruce A.

164

Midline cerebral malformations and schizophrenia.  

PubMed

To investigate a possible association of midline cerebral malformations with psychotic disorders, MRI and CT scans were blindly evaluated for 52 patients with schizophrenia, 9 with schizoaffective disease, and 79 consecutive nonpsychotic control subjects. Midline abnormalities were present in 10 of 61 patients (16.4%) versus 4 of 79 control subjects (5.1%; P < 0.05, chi-square). Of 52 schizophrenic patients, 8 had abnormalities of the septum pellucidum (SP): 5 had cavum vergae (CaV), 2 had cavum septum pellucidum (CaSP), and 1 had agenesis of the corpus callosum and SP. Of 9 schizoaffective patients, 2 had SP abnormalities: 1 CaV and 1 CaSP. Abnormalities of the SP, especially CaV, were significantly more frequent in women than in men (P < 0.02, chi-square). PMID:8369638

Scott, T F; Price, T R; George, M S; Brillman, J; Rothfus, W

1993-01-01

165

Fibrinolysis status in the Budd-Chiari syndrome in China.  

PubMed

Pathogenesis and clinical characteristics of the Budd-Chiari syndrome (BCS) in Asia are somewhat different from the ones observed in Western countries. Obstruction of the inferior vena cava (IVC) or of the hepatic veins is caused to a greater extent by membranous webs than by thrombosis. Impaired fibrinolysis has been found in European patients with BCS, but its status in Chinese patients with this condition is still unknown. To explore the characteristics of fibrinolysis in BCS patients in this country, we measured the euglobulin lysis time (ELT) for overall fibrinolysis and the plasma levels of five fibrinolytic components in 65 Chinese patients with BCS and 43 healthy controls. In patients, ELTs were slightly shorter than in controls (mean, 293 vs. 357 min, P?54 years; mean ELT?=?242, 198, and 289 min, respectively, all P??0.05). ELT in the subgroup without thrombosis was shorter than in controls (mean, 288 vs. 358 min, P??0.05). By and large, overall fibrinolytic potential was slightly increased in Chinese patients with BCS in this study, but fibrinolysis differed according to its baseline characteristics. Compared with the one seen in BCS patients from Western countries, BCS in China exhibits certain special changes in fibrinolysis and we were able to explain some of these changes. PMID:24911452

Ke, Zhang; Hao, Xu; Ning, Wei; Mao-Heng, Zu; Yu-Fei, Fu

2014-06-01

166

Budd-Chiari syndrome: A single-center experience  

PubMed Central

AIM: To investigate challenges, risk factors, prognostic indicators, and treatment outcomes associated with Budd-Chiari syndrome (BCS) at a tertiary care center. METHODS: A retrospective cohort study was conducted at the University of Pennsylvania in patients with a diagnosis of BCS or hepatic vein thrombosis. All patients receiving care at the University of Pennsylvania, and who had at least 2 clinical encounters in the University of Pennsylvania Health system from January 1, 2008 to September 10, 2013 were eligible for study inclusion. Data were extracted from the electronic medical record of each patient, and recorded in a secure Research Electronic Data Capture database. Logistic regression analyses were applied to identify predictors of outcome of liver transplant (LT) or death. RESULTS: Between January 1, 2008 and September 10, 2013, forty-seven patients were identified. Median age was 42.4 years. Thirty-one (66.0%) were women. A majority were Caucasian (68.1%). At diagnosis, 43 (91.5%) patients had ascites, 27 (57.4%) patients had a hematologic disorder associated with a hypercoagulable state and 26 (55.3%) had cirrhosis. Forty (85.1%) patients were on anticoagulation (AC), 30 (63.8%) of whom were maintained on warfarin. Two patients (4.3%) underwent thrombolytic therapy. A transjugular intrahepatic portosystemic shunt (TIPS) was placed in 21 (44.7%) patients, 19 (90.5%) of whom were also on AC. Twenty-one (44.7%) received AC alone. Over a median of 974 d, 8 (17.0%) patients received LT, and 10 (21.3%) died. The median time from listing to death was 26 mo [interquartile range (IQR) = 16, 65)]. TIPS with AC was utilized more frequently in younger patients (P = 0.02). Age, cirrhosis and chronic kidney disease (CKD) were significant predictors of LT or death. CONCLUSION: AC alone was employed as frequently as TIPS with AC, though the latter was used more frequently in younger patients with polycythemia vera. There were no significant differences in treatment outcome regardless of the therapeutic intervention employed. Significant predictors of poor prognosis included age, cirrhosis and CKD. PMID:25473178

Pavri, Tanya M; Herbst, Alan; Reddy, Rajender; Forde, Kimberly A

2014-01-01

167

Cephalic Pancreaticoduodenectomy for Bleeding Duodenal Arteriovenous Malformation  

PubMed Central

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

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

2014-01-01

168

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

169

19. Historic American Buildings Survey, Arnold Moses, Photographer February 23, ...  

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

19. Historic American Buildings Survey, Arnold Moses, Photographer February 23, 1937, VIEW FROM BALCONY SHOWING ONE SIDE BAY IN DIRECT ELEVATION. - St. Paul's Chapel, Broadway & Fulton Streets, New York, New York County, NY

170

Arnold Schwarzenegger A DESIGN GUIDE FOR EARLY-MARKET  

E-print Network

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

171

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

ERIC Educational Resources Information Center

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

Gregory, Anne

1985-01-01

172

Hybrid fitness across time and habitats Michael L. Arnold1  

E-print Network

.g. the acqui- sition of antibiotic resistance; [6]). Recently, this obser- vation has been used to argue Trends in Ecology and Evolution review, Arnold and Hodges [1] argued that plant and animal hybrids could

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

173

Internship experience at the Arnold Arboretum of Harvard University  

E-print Network

are offered within Harvard University's academic programs, and public classes are also offered. Organizational Structure and Personnel of the Arnold Arboretum of Harvard University Dr. Robert Cook currently serves as Director of the Arnold Arboretum. He... emergence by blocking sunlight, and add nutrients to the soil (Monheiser, 2001). In addition to these functions, mulch also helps to protect shallow-rooted plants from cold temperature injury and guards against frost-heaving from successive freezing...

Faris, Marissa D.

2001-01-01

174

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

Federal Register 2010, 2011, 2012, 2013, 2014

...operation for the Duane Arnold Energy Center (DAEC). The DAEC is...the town of Palo. Possible alternatives to the proposed action (license...include no action and reasonable alternative energy sources. As discussed in Section...

2010-10-20

175

An update on the diagnosis and management of Budd-Chiari syndrome.  

PubMed

Budd-Chiari syndrome is a rare disorder caused by hepatic venous outflow obstruction and resulting hepatic dysfunction. Despite a lack of prospective randomized trials, much progress has been made in its management over the last 20 years. The main goals of treatment are to ameliorate hepatic congestion and prevent further thrombosis. The selective use of anticoagulation, vascular stents, transjugular intrahepatic portosystemic stent-shunt and liver transplant has resulted in a significant increase in survival. The diagnosis, initial management and long-term follow-up of patients with Budd-Chiari syndrome is reviewed. The concept of individualization of treatment and a stepwise approach to invasive procedures is also discussed. PMID:23237258

MacNicholas, Ross; Olliff, Simon; Elias, Elwyn; Tripathi, Dhiraj

2012-12-01

176

Stent angioplasty of narrowed portocaval shunt in Budd Chiari syndrome: a case report  

PubMed Central

Background Hepatic vein thrombosis (Budd-Chiari Syndrome) is a rare disorder resulting from an obstruction to the outflow of blood from the liver. Early decompression is needed to prevent liver dysfunction and death. Radiological intervention includes angioplasty of stenosis and webs and the placement of transjugular intrahepatic portosystemic shunts (TIPPS). Side-to-side portacaval shunt (SSPCS) remains the gold standard for achieving good long-term results. Case presentation A 37-year old lady underwent side-to-side portacaval shunt for Budd Chiari syndrome. She had early shunt blockage and this was successfully treated with the placement of a metallic stent across the shunt. Conclusion At five years, she remains asymptomatic, with normal liver functions, no ascites, and normal flow through the stent on Colour Doppler examination. PMID:19117529

2009-01-01

177

Genetics Home Reference: Cerebral cavernous malformation  

MedlinePLUS

... inheritance ; malformation ; mutation ; nervous system ; pattern of inheritance ; population ; protein ; retina ; sporadic You may find definitions for these and many other terms in the Genetics Home Reference Glossary . See also Understanding Medical Terminology . ...

178

Congenital hand anomaly: etiology and associated malformations.  

PubMed

Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly. PMID:3007544

Goldberg, M J; Bartoshesky, L E

1985-08-01

179

The microcephaly-capillary malformation syndrome.  

PubMed

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

2011-09-01

180

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

181

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

182

Venous Malformation: update on etiopathogenesis, diagnosis & management  

PubMed Central

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

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

2011-01-01

183

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

E-print Network

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

Hall, Julie Maria

2014-07-05

184

Pulmonary arteriovenous malformation mimicking congenital cystic adenomatoid malformation in a newborn  

Microsoft Academic Search

Congenital pulmonary arteriovenous malformations (AVMs) are rare lesions, usually asymptomatic. We report on the case of a baby who was thought to have a congenital cystic adenomatoid malformation of the left upper lobe based on prenatal and postnatal imaging. Final pathology revealed a congenital pulmonary AVM. Neither the child nor her family have any evidence of hereditary hemorrhagic telangiectasia. To

Andreana Bütter; Mohammad Emran; Ayman Al-Jazaeri; Dorothée Bouron-Dal Soglio; Sarah Bouchard

2006-01-01

185

Arnold's dream: a search for higher-order helicity David Shea Vela-Vick  

E-print Network

Arnold's dream: a search for higher-order helicity invariants David Shea Vela-Vick Joint of the scalar Laplacian on R3. Shea Vela-Vick (Columbia University) Arnold's dream Rice University 2 / 25 #12-Vick (Columbia University) Arnold's dream Rice University 2 / 25 #12;Background and Motivation Fluid mechanics

Vela-Vick, David Shea

186

Peripheral neuropathy and object length perception by effortful (dynamic) touch: A case study  

Microsoft Academic Search

The spatial extents of hand-held objects can be perceived nonvisually by wielding them. This ability of effortful or dynamic touch to exploit the mass moments of an object to perceive its length was evaluated with a 40-years old right-handed woman with surgically treated Arnold-Chiari Type 1 Malformation and cervical syrinx. At the time of the experiment she presented with loss

Claudia Carello; Jeffrey Kinsella-Shaw; Eric L. Amazeen; M. T. Turvey

2006-01-01

187

Bisphenol A induces otolith malformations during vertebrate embryogenesis  

E-print Network

Bisphenol A induces otolith malformations during vertebrate embryogenesis Gibert et al. Gibert et) #12;RESEARCH ARTICLE Open Access Bisphenol A induces otolith malformations during vertebrate Background: The plastic monomer and plasticizer bisphenol A (BPA), used for manufacturing polycarbonate

Paris-Sud XI, Université de

188

Extrapyramidal dysfunction with cerebral arteriovenous malformations 1  

PubMed Central

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

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

1974-01-01

189

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

190

Analysis and improvement of the quantum Arnold image scrambling  

NASA Astrophysics Data System (ADS)

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

Jiang, Nan; Wang, Luo

2014-07-01

191

Extracorporeal Shock Wave Lithotripsy in Ureteral and Kidney Malformations  

Microsoft Academic Search

Introduction: Extracorporeal shock wave lithotripsy (SWL) has long been accepted worldwide in the treatment of kidney stone disease. Upper ureter calculi in ureteral and kidney malformations are rather frequent (10–25%). The aims of this retrospective study were to determine whether malformations might impair fragment expulsion. Material and Methods: From 1986 to 1995, 203 patients with ureteral and kidney malformations were

Michele Gallucci; Andrea Vincenzoni; Manlio Schettini; Pasquale Fortunato; Antonella Cassanelli; Antonio Zaccara

2001-01-01

192

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

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

Familial Dandy-Walker malformation and leukodystrophy  

Microsoft Academic Search

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.

Véronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne

1997-01-01

195

Bronchopulmonary foregut malformations. The spectrum of anomalies.  

PubMed

Ventral anomalies of accessory pulmonary tissue have been classified as "bronchopulmonary foregut malformations." Between July 1, 1981, and May 31, 1985, 10 children with bronchopulmonary malformations have been cared for on the Pediatric Surgical Service at the University of Virginia. Six patients had bronchogenic cysts, one in an extrathoracic location and one associated with a pulmonary sequestration. Diagnosis was suspected in each case by plain chest radiographs and confirmed by computed tomography scans and ultrasound. Four patients had pulmonary sequestrations, two in association with diaphragmatic hernias. One patient had accessory pulmonary tissue, best classified as a tracheal lobe. Diagnosis in this patient was confirmed by bronchography. Nine patients underwent excision of the malformation without event. In one patient, a bronchogenic cyst was treated successfully by thoracoscopy. Review of the anatomy of these malformations leads to the conclusion that three embryologic events are cardinal in determining their ultimate form: (1) investment of the anomalous pulmonary tissue by the pulmonary artery; (2) the degree of involution of the original foregut communication; and (3) the stage of development leading to pleural investment. PMID:3707230

Rodgers, B M; Harman, P K; Johnson, A M

1986-05-01

196

Stepwise Angioplasty and Catheter Directed Thrombolysis for Budd-Chiari Syndrome Complicated with Floating Thrombus in Inferior Vena Cava  

PubMed Central

Recently, we experienced a rare case of Budd-Chiari Syndrome. The case was a 57-year-old female patient. Venous return had been severely disturbed by the membranous occlusion of the IVC and a giant floating thrombus. After catheter directed thrombolysis combined with stepwise percutaneous angioplasty, the IVC was recanalized sufficiently and the thrombus was completely resolved. PMID:24995066

2014-01-01

197

Stepwise angioplasty and catheter directed thrombolysis for budd-Chiari syndrome complicated with floating thrombus in inferior vena cava.  

PubMed

Recently, we experienced a rare case of Budd-Chiari Syndrome. The case was a 57-year-old female patient. Venous return had been severely disturbed by the membranous occlusion of the IVC and a giant floating thrombus. After catheter directed thrombolysis combined with stepwise percutaneous angioplasty, the IVC was recanalized sufficiently and the thrombus was completely resolved. PMID:24995066

Mitsuoka, Hiroshi; Saito, Takaaki; Higashi, Shigeki

2014-01-01

198

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

PubMed

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

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

2015-01-01

199

A SIMPLE CARD GUESSING GAME REVISITED Arnold Knopfmacher  

E-print Network

A SIMPLE CARD GUESSING GAME REVISITED Arnold Knopfmacher://www.wits.ac.za/helmut/index.htm Submitted: January 4, 2000; Accepted: March 3, 2000. Abstract. A deck of cards consisting of m red and n black cards is given.* * A guess is made as to the colour of the top card, after which

Prodinger, Helmut

200

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

201

Arnold Schwarzenegger TIME-OF-USE WATER METER EFFECTS  

E-print Network

Manager Michael Lozano, P.E. Program Area Lead Industrial/Agriculture/Water End Use Virginia Lew Office Generation · Industrial/Agricultural/Water EndUse Energy Efficiency · Renewable Energy TechnologiesArnold Schwarzenegger Governor TIME-OF-USE WATER METER EFFECTS ON CUSTOMER WATER USE

202

Please Join Us as Dr. Arnold F. Stancell Presents  

E-print Network

recommendations for improved offshore drilling safety following the BP oil spill tragedy. Dr. StancellPlease Join Us as Dr. Arnold F. Stancell Presents "BP Oil Tragedy: What Went Wrong and Leadership in an explosion and fire aboard the Deep Water Horizon drilling rig. The spill gushed five million barrels of oil

Miami, University of

203

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

204

Improving weapons of mass destruction intelligence Arnold Kanter  

E-print Network

1 Improving weapons of mass destruction intelligence Arnold Kanter The Scowcroft Group 900;2 Combating the spread of weapons of mass destruction (WMD) is one of the most important foreign policy constituent parts. Weapons of mass destruction are different. Each WMD agent poses different risks and very

Deutch, John

205

The flight of a golf ball Douglas N. Arnold  

E-print Network

The flight of a golf ball Douglas N. Arnold University of Minnesota, Minneapolis 1 The trajectory of a golf ball A skilled golfer hitting a drive can accelerate his club head from zero to 120 miles per hour return to earth at a point 256 yards from the tee. In fact, observation of golf ball trajectories reveals

Arnold, Douglas N.

206

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

207

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

PubMed

Case report is presented, which describes a patient with thromboemboli trapped in the Chiari network within the right heart and resistant to thrombolysis. The right atrial masses were completely removed under cardiopulmonary bypass. Histological evaluation confirmed a mixed thromboemboli, with thrombus structures showing signs of organization and surrounded by a fibrous capsule. A heterozygous methylenetetrahydrofolate reductase gene polymorphism was found, and the plasma level of the plasminogen activator inhibitor type-1 (PAI-1) was 50% higher than the normal upper limit. In this presented case, the Chiari network displayed a protective function, but the expansion and organization of the thromboembolus caught there made it resistant to lytic therapy. Another important factor which could have influenced the resistance to thrombolysis was the high level of PAI-1. PAI-1 is the primary physiologic inhibitor of plasminogen activation in blood. Elevated pre-treatment levels of PAI-1 may reduce the efficacy of thrombolytic therapy by preventing or retarding clot dissolution. The patient's DNA was tested for a common single-base-pair polymorphism (four or five guanine bases) in the promoter region of the gene (4G/5G), but the presence of this variant allele was not confirmed: the patient was homozygous for the 5G allele (5G/5G genotype). PMID:19894103

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

2010-07-01

208

GI-Associated Hemangiomas and Vascular Malformations  

PubMed Central

Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

Yoo, Stephen

2011-01-01

209

Neuropathology of cerebral arteriovenous malformations in children.  

PubMed Central

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

Takashima, S; Becker, L E

1980-01-01

210

Treatment of arteriovenous malformations of the brain  

Microsoft Academic Search

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

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

2007-01-01

211

Statins and congenital malformations: cohort study  

PubMed Central

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

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

2015-01-01

212

Developmental genetic malformations of the cerebral cortex  

Microsoft Academic Search

Cortical malformations give rise to severe clinical manifestations such as epilepsy and mental retardation, but sometimes\\u000a to more subtle problems like dyslexia. From a clinical standpoint, such structural abnormalities are diagnosed by radiographic\\u000a and histologic findings, with disease classifications often based on these observations. Using this categorization, many of\\u000a the responsible genes have been determined and now provide a means

Volney L. Sheen; Christopher A. Walsh

2003-01-01

213

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.

214

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

215

Malformations in neotropical viperids: qualitative and quantitative analysis.  

PubMed

Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804

Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catão-Dias, J L

2013-11-01

216

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

217

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

218

The Budd Chiari syndrome: a 22 year male treated successfully with mesocaval shunt.  

PubMed

Budd Chiari syndrome (BCS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio cava junction. BCS could have serious consequences if not treated promptly. Comprehensive angiographic studies, computerised tomography, liver ultrasonography, histology and pathologic analyses are essential for establishing the disease severity, stratifying risk factors, choosing the appropriate therapy and objectively assessing the response. The main objective of therapy is to alleviate portal and IVC hypertension. Here we present a report of a young man with BCS who underwent mesocaval shunt. The eight months follow up showed that patient was free of symptoms and duplex scans confirmed the patency of the shunt. PMID:25272556

Malik, Noureen; Bhatti, Ahsin Manzoor; Husssain, Syed Mukarram; Mansoor, Junaid; Saeed, Farrukh

2014-05-01

219

A Case of Budd-Chiari Syndrome Associated with Alveolar Echinococcosis  

PubMed Central

Although alveolar echinococcosis (AE) can cause a serious disease with high mortality and morbidity similar to malign neoplasms. A 62-year-old woman admitted to a hospital located in Sivas, Turkey, with the complaints of fatigue and right upper abdominal pain. On contrast abdominal CT, a 54×70×45 mm sized cystic lesion was detected in the left lobe of the liver that was seen to extend to the posterior mediastinum and invade the diaphragm, esophagus, and pericardium. The cystic lesion was seen to be occluding the inferior vena cava and left hepatic vein at the level where the hepatic veins poured into the inferior vena cava. Bilateral pleural effusion was also detected. We discussed this secondary Budd-Chiari Syndrome (BCS) case, resulting from the AE occlusion of the left hepatic vein and inferior vena cava, in light of the information in literature. PMID:24039293

Alagozlu, Hakan; Gumus, Cesur; Alí, Celiksöz

2013-01-01

220

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

PubMed Central

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

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

2014-01-01

221

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

222

Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.  

PubMed

Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

1997-07-01

223

Somatic Mutations in Cerebral Cortical Malformations  

PubMed Central

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

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

2014-01-01

224

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

225

BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN  

PubMed Central

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

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

2009-01-01

226

Pretreatment imaging of peripheral vascular malformations  

PubMed Central

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

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

2015-01-01

227

Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete  

PubMed Central

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

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

2013-01-01

228

Spinal arteriovenous malformation masquerating zoster sine herpete.  

PubMed

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

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

2013-01-01

229

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. PMID:25624978

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

230

Congenital bronchopulmonary vascular malformations, “sequestration” and beyond  

PubMed Central

Congenital bronchopulmonary vascular malformations (BPVMs) include a broad spectrum of disorders that involve abnormalities in the form of disruptions of normal communication and/or presence of abnormal communication between one or more of the three main systems of the lung, namely, the airways, arteries, and veins. The establishment of abnormal communications by means of small openings or anastomoses is termed as malinosculation. The aim of this pictorial essay is to illustrate the imaging appearances of the various types of pulmonary malinosculation. PMID:25709164

Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

2015-01-01

231

MINIMAL COMPLETE SHIDOKU SYMMETRY GROUPS ELIZABETH ARNOLD, REBECCA FIELD, STEPHEN LUCAS, AND LAURA TAALMAN  

E-print Network

MINIMAL COMPLETE SHIDOKU SYMMETRY GROUPS ELIZABETH ARNOLD, REBECCA FIELD, STEPHEN LUCAS, AND LAURA;2 ELIZABETH ARNOLD, REBECCA FIELD, STEPHEN LUCAS, AND LAURA TAALMAN 5 7 8 2 3 9 1 6 8 9 2 7 5 2 1 7 8 6 4 8 9

Arnold, Elizabeth A.

232

Tribute to Vladimir Arnold Boris Khesin and Serge Tabachnikov, Coordinating Editors  

E-print Network

Tribute to Vladimir Arnold Boris Khesin and Serge Tabachnikov, Coordinating Editors V ladimir in his own words In 1990, one of us (S.T.) interviewed V. Arnold for a Russian magazine "Kvant" (Quantum only in the USSR) to fundamental science in general, and to mathematics in particular, is well

Toronto, University of

233

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

234

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

235

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

236

Cerebral cavernous malformations (cavernomas) in the pediatric age-group  

Microsoft Academic Search

Cavernomas are vascular malformations composed of a compact mass of sinusoidal-type vessels that are immediately contiguous with one another and have no intervening parenchyma. Cavernous malformations were previously held to be a rare pathology occurring predominantly in adults. New neuroradiological techniques such as computed tomography (CT) and magnetic resonance imaging (MRI) demonstrate, on the contrary, that these lesions are also

C. Mazza; R. Scienza; A. Beltramello; R. Da Pian

1991-01-01

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

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 recently metamorphosed frogs that were collected in Minnesota, Vermont, Wisconsin and Maine and examined on the northern leopard frog (Rana pipiens). The malformations and the method of their classification are reported

Torgersen, Christian

239

COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS  

Microsoft Academic Search

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

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

240

Research Report Genetic interactions among cortical malformation genes that  

E-print Network

Research Report Genetic interactions among cortical malformation genes that influence consequences of decreasing the activity of nematode gene homologs within the LIS1 pathway that are associated with a human cortical malformation termed lissencephaly. Bioinformatic analysis revealed the nud-2 gene

Caldwell, Guy

241

Lumbar extradural arteriovenous malformation: case report and literature review  

Microsoft Academic Search

Background contextMost spinal arteriovenous malformations (AVMs) are dural arteriovenous fistulas in which a singularly intradural venous drainage emanates from an extradural nidus. A pure extradural spinal arteriovenous malformation (E-AVM), in the absence of a vertebral body (cavernous) hemangioma, is extremely rare, and full clinical, radiological, and operative descriptions are scant.

Laurence A. G. Marshman; Karoly M. David; Sanjiv J. Chawda

2007-01-01

242

Intralesional laser therapy for vascular malformations.  

PubMed

Intralesional laser therapy for the treatment of vascular malformations (VMs) has been previously reported for select patient populations. Larger studies, over a wider variety of indications, are needed to better define the potential role of this technology. In the current study, a 12-year, retrospective review of 44 patients who underwent 73 intralesional Nd:YAG or diode laser treatments of VMs was performed. The most commonly encountered lesions were venous malformations (66%) and the most commonly involved anatomic locations were the head and neck regions (41%) and lower extremity (39%). Primary indications for treatment were enlargement (73%) and pain (52%). Lesion size was reduced in 94% of cases after treatment and pain was improved in 91% of cases. Minor postoperative complications occurred in 16 (36%) patients. There was no difference in treatment response among various VM subtypes or anatomic locations (P=0.497, P=0.866) or in the incidence of complications (P=0.531, P=0.348). Age was the only factor associated with an increased risk of complications (odds ratio, 1.034; P=0.038). When used in accordance with the suggested guidelines, intralesional laser therapy is a safe and effective treatment modality for VMs of varying compositions and locations. PMID:24625513

Ma, Linda W; Levi, Benjamin; Oppenheimer, Adam J; Kasten, Steven J

2014-11-01

243

Conquer Chiari  

MedlinePLUS

... resulting in quicker diagnoses for children. Click on Nicole's picture to enter our pediatric section for pediatric related articles, literature and support. Nicole, age 11 CCWAA'15 will take place on ...

244

Pediatric Chiari  

MedlinePLUS

... sure everything was okay with me. The doctor told them everything was fine. I just remember saying, "But how ... mom asked what I was doing and I told her, "I never knew this is what my fingers felt like." ...

245

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

246

Diagnosis and management of pulmonary arteriovenous malformations  

PubMed Central

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

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

2002-01-01

247

Multimodal device for assessment of skin malformations  

NASA Astrophysics Data System (ADS)

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

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

2013-11-01

248

Outcome of cochlear implantation in children with cochlear malformations.  

PubMed

The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended. PMID:24407715

Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

2015-03-01

249

Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations  

PubMed Central

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

Norstedt Wikner, Birgitta

2014-01-01

250

Recent advances in the genetic etiology of brain malformations.  

PubMed

In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931

Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M

2013-08-01

251

Quantum image encryption based on generalized Arnold transform and double random-phase encoding  

NASA Astrophysics Data System (ADS)

A quantum realization of the generalized Arnold transform is designed. A novel quantum image encryption algorithm based on generalized Arnold transform and double random-phase encoding is proposed. The pixels are scrambled by the generalized Arnold transform, and the gray-level information of images is encoded by the double random-phase operations. The keys of the encryption algorithm include the independent parameters of coefficients matrix, iterative times and classical binary sequences, and thus, the key space is extremely large. Numerical simulations and theoretical analyses demonstrate that the proposed algorithm with good feasibility and effectiveness has lower computational complexity than its classical counterpart.

Zhou, Nan Run; Hua, Tian Xiang; Gong, Li Hua; Pei, Dong Ju; Liao, Qing Hong

2015-01-01

252

Ultrasound and Doppler features of budd-Chiari syndrome in pediatric population.  

PubMed

Budd-Chiari syndrome (BCS) occurs as a result of hepatic venous outflow obstruction. In the pediatric population, the etiologies vary as compared with the adult population. Decompensation can occur faster in this set of patients. Ultrasound and Doppler represent important imaging modalities for diagnosing BCS in children. The imaging features differ depending upon the level of obstruction, acuteness of the condition, and secondary decompensation. Caudate lobe hypertrophy is a salient feature. Obstruction at the level of hepatic veins may be manifested by ostial narrowing, echogenic thrombus, and altered flow patterns in the form of turbulent flow, nonvisualization of the veins, or reversal of flow. Obstruction in the inferior vena cava may present as an echogenic web, membrane, or thrombus with turbulent flow to absent flow within depending upon the degree of luminal compromise. Collateral formation is an important distinctive feature of subacute and chronic BCS. Collaterals that develop may be of intrahepatic or extrahepatic type. Secondary signs of liver failure would be present in late stages. Understanding the clinical presentation and imaging features can help in achieving the correct diagnosis because an early diagnosis of the disease will impact patient management. PMID:25706364

Trivedi, Chintan R; Thakkar, Hemangini; Sannananja, Bhagya; Shah, Hardik Uresh

2015-03-01

253

Pulmonary vascular malformation complicating cryptococcal pneumonia in an immunocompetent patient  

PubMed Central

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

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

2014-01-01

254

Contracted foal syndrome associated with multiple malformations in two foals.  

PubMed

Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

2014-02-01

255

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 ; ...

256

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

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

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

257

Vein of Galen malformations: epidemiology, clinical presentations, management.  

PubMed

The vein of Galen aneurysmal malformation is a congenital vascular malformation that comprises 30% of the pediatric vascular and 1% of all pediatric congenital anomalies. Treatment is dependent on the timing of presentation and clinical manifestations. With the development of endovascular techniques, treatment paradigms have changed and clinical outcomes have significantly improved. In this article, the developmental embryology, clinical features and pathophysiology, diagnostic workup, and management strategies are reviewed. PMID:22107867

Recinos, Pablo F; Rahmathulla, Gazanfar; Pearl, Monica; Recinos, Violette Renard; Jallo, George I; Gailloud, Philippe; Ahn, Edward S

2012-01-01

258

Laparoscopic approach in the management of anorectal malformations.  

PubMed

Seventeen years have passed since the first description of the laparoscopic approach for anorectal malformation and approximately 68 articles have been published on the subject. In this review article, we aim to describe the advantages as well as the indications and contraindications of this approach when dealing with each specific type of anorectal malformation, according to what has been described in the literature and to our own experience. The ideal and undisputable indication for laparoscopy remains for cases in which the abdomen needs to be entered to repair the malformation. Only 10 % of male patients with anorectal malformation are born with a recto-bladder neck fistula that requires an abdominal approach, this represents an ideal indication for laparoscopy. In females, only the complex cloacae with a common channel length greater than 3 cm are the ones that require a laparotomy; they represent about 30 % of the cloacae. However, the repair of this type of cloacae also requires sophisticated and technically demanding maneuvers that have never been done laparoscopically. In cases of recto-urethral prostatic fistulas the malformation can be repaired either way: laparoscopically or posterior sagitally. In all other malformations: recto-perineal fistula, recto-urethral bulbar fistula, anorectal malformation without fistula, rectal atresia, recto-vestibular fistula; no justification for laparoscopy could be found; and in some cases, laparoscopy is contraindicated. In the published reports, there is no evidence supporting the idea that laparoscopic repair results in better functional results when compared with non-laparoscopic operation; there is a tendency to omit information relevant to bowel control such as the characteristics of the sacrum and the presence or absence of tethered cord; and most authors do not compare results between comparable malformations. PMID:25725614

Bischoff, Andrea; Martinez-Leo, Bruno; Peña, Alberto

2015-05-01

259

Innumeracy and the Fires of the Inquisition V. I. Arnol'd  

E-print Network

Innumeracy and the Fires of the Inquisition V. I. Arnol'd 28 January 1998 We live in an insane of the Inquisition to Spain and Western civilization as a whole. 1 #12; Branches of science, which for many years

Arnold, Vladimir Igorevich

260

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, such as labor? Yes. 4. Can the loan be used for working capital, research, or development? No. 5. How do

261

STATE OF CALIFORNIA NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor AMENDED NOTICE OF PROPOSED AWARD  

E-print Network

STATE OF CALIFORNIA ­ NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor AMENDED NOTICE,000,000 82 Awardee 2 Stion Corporation Stion MOCVD Capital Project $5,000,000 $5,000,000 79 Awardee Clean

262

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.C. 20585 Petition to Exempt from Preemption California's Water Conservation Standards for Residential, the California Energy Commission submits the enclosed petition for exemption from federal preemption

263

Node Localisation in Wireless Ad Hoc Networks Jon Arnold, Nigel Bean, Miro Kraetzl, Matthew Roughan  

E-print Network

Node Localisation in Wireless Ad Hoc Networks Jon Arnold, Nigel Bean, Miro Kraetzl, Matthew Roughan, Australia Email:{nigel.bean,matthew.roughan}@adelaide.edu.au Abstract-- Wireless ad hoc networks often

Roughan, Matthew

264

Giant Cystic Cerebral Cavernous Malformation with Multiple Calcification - Case Report  

PubMed Central

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; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

2013-01-01

265

Morphological variation of "complex vertebral malformation" in Holstein calves.  

PubMed

A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were homozygous affected, 16 were heterozygous, and 29 were homozygous normal. Calves affected by CVM were growth retarded. Vertebral lesions identified by radiography were present in 61 cases, of which 58 also had costal malformation. Malformation of the head, primarily in the form of dysplasia or palatoschisis, was present in 15 cases. Bilateral symmetric flexion of the carpal and metacarpophalangeal joints was present in all cases, whereas posterior arthrogryposis was found in 54 cases. Interventricular septal defects occurred in 33 calves, often in combination with other cardiac malformations. A wide spectrum of additional malformations was found. Other congenital syndromes were in most cases distinguishable from CVM on a morphological basis. However, a calf with a prenatal infection with bovine virus diarrhea virus constituted a phenocopy. The study demonstrated that the morphological expression of CVM is wide, but certain aspects, i.e., growth retardation, vertebral malformation, and symmetric arthrogryposis, are almost constant findings. However, cases without vertebral defects and phenocopies constitute a diagnostic problem. A presumptive diagnosis of CVM can in most cases be based on necropsy findings combined with information on descent and paternal CVM genotype, whereas a definitive diagnosis requires genotyping. PMID:15586570

Agerholm, Jorgen S; Bendixen, Christian; Arnbjerg, Jens; Andersen, Ole

2004-11-01

266

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.  

PubMed

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. PMID:25192502

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2014-07-01

267

Surgical approaches to brainstem cavernous malformations.  

PubMed

Brainstem cavernous malformations (CMs) are low-flow vascular lesions in eloquent locations. Their presentation is often marked with symptomatic hemorrhages that appear to occur more frequently than hemorrhage from supratentorial cavernomas. Brainstem CMs can be removed using 1 of the 5 standard skull-base approaches: retrosigmoid, suboccipital (with or without telovelar approach), supracerebellar infratentorial, orbitozygomatic, and far lateral. Patients being referred to a tertiary institution often have lesions that are aggressive with respect to bleeding rates. Nonetheless, the indications for surgery, in the authors' opinion, are the same for all lesions: those that are symptomatic, those that cause mass effect, or those that abut a pial surface. Patients often have relapsing and remitting courses of symptoms, with each hemorrhage causing a progressive and stepwise decline. Many patients experience new postoperative deficits, most of which are transient and resolve fully. Despite the risks associated with operating in this highly eloquent tissue, most patients have had favorable outcomes in the authors' experience. Surgical treatment of brainstem CMs protects patients from the potentially devastating effects of rehemorrhage, and the authors believe that the benefits of intervention outweigh the risks in patients with the appropriate indications. PMID:20809766

Abla, Adib A; Turner, Jay D; Mitha, Alim P; Lekovic, Gregory; Spetzler, Robert F

2010-09-01

268

Which is the best surgery for Budd-Chiari syndrome: Venous decompression or liver transplantation? A single-center experience with 50 patients  

Microsoft Academic Search

The optimal treatment of Budd-Chiari syndrome (BCS) remains an open question. It is still a matter of controversial discussion whether venous decompression or liver transplantation is superior. To elucidate the role and prognosis of both surgical options in our own experience, a consecutive series of 50 patients treated between 1981 and 1993 was retrospectively analyzed. Twelve patients had different types

Burckhardt Ringe; Hauke Lang; Karl-Jürgen Oldhafer; Michael Gebel; Peer Flemming; Axel Georgii; Hans-Georg Borst; Rudolf Pichlmayr

1995-01-01

269

Acute Budd–Chiari syndrome caused by tumor thrombus of the inferior vena cava secondary to non-small cell lung cancer  

Microsoft Academic Search

Budd–Chiari syndrome secondary to lung cancer is very rare. The clinical features of this disease have not been well described, as only a few cases have been reported in the past 3 decades. We analyzed 5 such cases, including the present case, and have identified certain features of lung cancer that may play a role in this syndrome. All cases

Kohei Fujita; Young Hak Kim; Mitsuru Yoshino; Masataka Ichikawa; Tadashi Mio; Michiaki Mishima

2010-01-01

270

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.

271

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

PubMed

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

Curtis, Scott

2011-09-01

272

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

PubMed

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

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

2013-12-01

273

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

274

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

275

Vein of Galen arteriovenous malformation mimicking coarctation of the aorta.  

PubMed

Arteriovenous malformation of the vein of Galen is a rare congenital intracranial anomaly lacking a capillary bed and subsequent aneurysmal enlargement of the arterial and venous system, warranting careful management due to associated morbidity and mortality. Coarctations of aorta demonstrate similar neonatal echocardiographic signs to the vein of Galen arterial malformation (VGAM). We present a boy at 37 weeks of gestation whose initial ultrasound and echocardiographic investigations showed a dominant right ventricle and isthmal hypoplasia, suggestive of coarctation of aorta. Follow-up ultrasound and echocardiography revealed an arteriovenous malformation involving middle and posterior cerebral artery branches, eliminating coarctation of aorta. VGAM was confirmed by further ultrasound and angiographic investigation, which demonstrated a tangle of cerebral and choroidal arterial branches centrally feeding into an enlarged vein of Galen. The boy's hemodynamic and neurological statuses were confirmed to be stable despite increased venous pressure. Elective embolization at 7 months of age was complicated by a cerebrovascular accident, resulting in right hemiparesis despite no residual cardiac issues. This case demonstrates that rarely, arteriovenous malformations such as the vein of Galen malformations may be the primary cause of patients presenting with coarctation of aorta. The rarity of this condition and its guarded prognosis make our case of special interest to cardiologists and the perinatal care team. PMID:25368688

Firdouse, Mohammed; Agarwal, Arnav; Mondal, Tapas

2014-12-01

276

Defining anural malformations in the context of a developmental problem  

USGS Publications Warehouse

This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

277

Gross congenital malformation at birth in a government hospital.  

PubMed

A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management. PMID:24748359

Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

2014-01-01

278

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

279

Bone lengthening in malformed upper limbs: a four year experience.  

PubMed

Bone lengthening by corticotomy, gradual distraction and stabilization with an external frame has proved to be effective in the repair of osseous defects in lower extremities. More recently this technique has been introduced also in the treatment of post-traumatic deformities and malformations of the upper limbs. From 1989 to 1992 we treated 38 patients (46 upper limbs) with bone lengthening of which 12 (16 upper limbs) affected by post-traumatic deformities and 26 (30 upper limbs) by malformations. We present herein our four year experience with malformed cases only. The results suggest that bone lengthening is a simple and reliable procedure to obtain good function, to correct angular deviations and, also, to give a better esthetic appearance. Satisfying results, low complication rates and simple execution recommend its use in the treatment of many congenital malformations of the upper limbs, usually in association with traditional techniques. However, we are now strongly selecting the indications in order to improve our future results. We stress in particular that the treatment of some malformations, as ulnar or radial club hands, could be radically modified by introduction of bone lengthening. PMID:7618398

Pajardi, G; Campiglio, G L; Candiani, P

1994-01-01

280

A familial venous malformation locus is on chromosome 9p  

SciTech Connect

Venous malformation is the most common vascular malformation affecting 0.2% of the population. Depending upon size and location, these slow-flow lesions may cause pain, anatomic distortion and threaten life. Most venous malformations occur sporadically and present as solitary lesions. For this reason, determining their pathogenic bases has proven elusive. However, venous malformations also occur in several rare syndromes, some of which demonstrate Mendelian inheritance. As a first step towards identifying the pathogenic bases for these lesions, we have mapped a locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24.5 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. A maximum LOD score of 4.11 at {theta} = 0.05 is obtained with several markers within the interval. The interferon gene cluster, which has previously been implicated in angiogenesis, and the multiple tumor suppressor gene, responsible for several types of malignant tumors, also lie within this interval and are potential candidates.

Boon, L.M.; Mulliken, J.B. [Children`s Hospital, Boston, MA (United States); Vikkula, M. [Harvard Medical School, Boston, MA (United States)] [and others

1994-09-01

281

[Situs inversus of the fibula: medialized fibula].  

PubMed

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

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

2015-04-01

282

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

E-print Network

Biosafety Laboratory's research. According to the World Health Organization, tuberculosis infects as much: communityrelations@tufts.edu · PHONE (Community Relations): 617.627.3780 Individual. Community. World. ARNOLD 8 of Medicine, a world leader in infectious disease research, to develop innovative strategies to detect

Dennett, Daniel

283

Basic research Malformations of cortical development and epilepsy  

E-print Network

Malformations of cortical development (MCDs) are brain malformations that result from abnormalities affecting the normal processes of cortical development and involving cells that under normal circumstances would participate in formation of the cerebral cortex. Epileptic seizures result from paroxysmal, uncontrolled discharges of electricity from the brain that arise predominantly from the cerebral cortex. It is not surprising therefore that MCDs are often associated with recurrent seizures, and that these seizures may be difficult to control. The seizures in MCDs arise as a consequence of either malpositioning of normal cortical neurons or 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

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

284

Dural arteriovenous malformation in the anterior cranial fossa.  

PubMed

Two cases of dural arteriovenous malformation (AVM) at the base of the anterior cranial fossa are described. In both cases an intracerebral hematoma following the rupture of the AVM was the first indication of the disease. In one case, the malformation was supplied both by the anterior ethmoidal artery and frontopolar artery draining into the superior sagittal sinus. In the second case, the right anterior ethmoidal artery with draining veins into the superior sagittal sinus and sphenoparietal sinus was the feeding vessel. Surgical evacuation of the hematoma and excision of the malformation was performed on both patients. The typical clinical signs and radiological findings are described. A review of the pertinent literature is given. PMID:10350203

Gliemroth, J; Nowak, G; Arnold, H

1999-03-01

285

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 ...

286

A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome.  

PubMed

There are many overgrowth syndromes described in the literature. Few are associated with vascular malformations. We describe a rare, newly described syndrome with features of overgrowth and vascular malformations. PMID:25709171

Gopal, Balaji; Keshava, Shyamkumar N; Selvaraj, Deepak

2015-01-01

287

A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome  

PubMed Central

There are many overgrowth syndromes described in the literature. Few are associated with vascular malformations. We describe a rare, newly described syndrome with features of overgrowth and vascular malformations. PMID:25709171

Gopal, Balaji; Keshava, Shyamkumar N; Selvaraj, Deepak

2015-01-01

288

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

289

Regression of a Large Congenital Hepatic Arteriovenous Malformation  

PubMed Central

Congenital hepatic arteriovenous malformations are rarely seen in association with persistent neonatal pulmonary hypertension. We report the case of a full-term female newborn who presented with heart failure and respiratory distress soon after birth. Echocardiographic investigation revealed severe persistent pulmonary hypertension and patent ductus arteriosus. Here we report spontaneous regression in size of both the feeder vessel and the vascular bed of the congenital hepatic arteriovenous malformation. We postulate that our conservative use of oral heart failure therapy, in the form of diuretic agents and captopril, decreased the congestion and diameter of the affected vessels. PMID:25873838

Zakaria, Rania; Mostafa, Fatma Alzahraa; Hamza, Hala

2015-01-01

290

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

291

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

292

Human malformations of the midbrain and hindbrain: review and proposed classification scheme  

Microsoft Academic Search

Although a great deal of interest in the genetics and etiology of cerebral, particularly forebrain, malformations has been generated in the past decade, relatively little is known about the basis of congenital malformations of the structures of the posterior fossa, namely the midbrain, cerebellum, pons, and medulla. In this review, we present a classification scheme for malformations of the midbrain

Melissa A. Parisi; William B. Dobyns

2003-01-01

293

Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands  

Technology Transfer Automated Retrieval System (TEKTRAN)

Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

294

Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans  

ERIC Educational Resources Information Center

A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

2009-01-01

295

A molecular and genetic view of human renal and urinary tract malformations  

Microsoft Academic Search

A molecular and genetic view of human renal and urinary tract malformations.Malformations of the kidney and lower urinary tract are common causes of chronic renal failure in infants and young children, but little is known about the molecular pathogenesis of these disorders. In animal experiments, the main causes of malformation are mutations, chemical and pharmaceutical teratogens, obstruction of fetal urinary

Adrian S Woolf

2000-01-01

296

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

297

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

298

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

PubMed

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

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

2014-10-01

299

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

300

Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation  

ERIC Educational Resources Information Center

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…

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

2012-01-01

301

Epileptogenic temporal cavernous malformations: Operative strategies and postoperative seizure outcomes  

Microsoft Academic Search

Operative treatment of epileptogenic cavernous malformations (CM) continues under debate. Most studies focus on surgery for supratentorial CM in general. For temporal lobe CM, surgical decision-making concerns in particular whether to perform lesionectomy alone or the additional excision of mesial temporal structures. The purpose of this case series was to evaluate operative strategies used to treat epileptogenic temporal CM and

Kristen Upchurch; John M. Stern; Noriko Salamon; Sandra Dewar; Jerome Engel Jr.; Harry V. Vinters; Itzhak Fried

2010-01-01

302

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...

303

The North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Fowle, Suzanne C.

304

Digital Subtraction Angiography for Arteriovenous Malformations in Stereotactic Radiosurgery  

Microsoft Academic Search

Images coming from digital subtraction angiography (DSA) are affected by a perspective distortion due to the use of image intensifiers. As a result, DSA cannot be used for the accurate definition of stereotactic coordinates. A correction method has been developed to enable the use of DSA for the radiosurgery of arteriovenous malformations. A software program and a special phantom tool

E. Piovan; M. Dal Sasso; G. P. Urbani; R. Sartori; R. Foroni; A. Benati

1996-01-01

305

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

306

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

307

Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)  

Microsoft Academic Search

A 26-year-old lady was seen in antenatal clinic. Her anomaly scan at 20 weeks showed significant fetal abdominal ascites and an enlarged echo bright right lung with cardiac displacement. These findings were consistent with recognised type III congenital cystic adenomatoid malformation (CCAM). An induction of labour was undertaken at 32 weeks' gestation due to increasing maternal morbidity. Labour was complicated

D. Ankers; N. Sajjad; P. Green; J. L. McPartland

2010-01-01

308

Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon  

PubMed Central

Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491

Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

2013-01-01

309

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

310

Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas  

Microsoft Academic Search

Seven patients with facial and scalp capillary hemangiomas with associated vascular and nonvascular intracranial malformations are presented. All patients were female. The most important anomalies include: Dandy-Walker disease, cerebellar hypoplasia, arterial angiomas, and abnormal origin and intracranial distribution of some of the principal cerebral arteries.

I. Pascual-Castroviejo

1978-01-01

311

Living Related Donor Liver Transplantation with Atrio-Caval Anastomosis of Inferior Vena Cava Graft Stored in Deep-Freeze for Budd-Chiari Syndrome  

PubMed Central

We have previously reported our experience in inferior vena cava resection and reconstruction techniques during liver transplantation for Budd-Chiari syndrome. Herein, we present on a case that demonstrates the importance of experience in complex vascular reconstruction techniques for living donor liver transplantation. A 15-year-old boy was scheduled for living donor liver transplantation for Budd-Chiari syndrome. Venous occlusion was extended up to the right atrial orifice of the supra-hepatic vena cava. Retro- and supra-hepatic segments of the vena cava was resected. Inferior vena cava graft stored in deep-freeze was available. Venous reconstruction was performed with end-to-end atrio-caval anastomosis. Surgical treatment was completed with the implantation of the right liver lobe donated by the patient’s mother. Post-surgical course was uneventful. PMID:25737776

Yaylak, F.; Ince, V.; Barut, B.; Unal, B.; Kilic, M.; Yilmaz, S.

2015-01-01

312

Altered intrinsic properties of neuronal subtypes in malformed epileptogenic cortex.  

PubMed

Neuronal intrinsic properties control action potential firing rates and serve to define particular neuronal subtypes. Changes in intrinsic properties have previously been shown to contribute to hyperexcitability in a number of epilepsy models. Here we examined whether a developmental insult producing the cortical malformation of microgyria altered the identity or firing properties of layer V pyramidal neurons and two interneuron subtypes. Trains of action potentials were elicited with a series of current injection steps during whole cell patch clamp recordings. Cells in malformed cortex identified as having an apical dendrite had firing patterns similar to control pyramidal neurons. The duration of the second action potential in the train was increased in paramicrogyral (PMG) pyramidal cells, suggesting that these cells may be in an immature state, as was previously found for layer II/III pyramidal neurons. Based on stereotypical firing patterns and other intrinsic properties, fast-spiking (FS) and low threshold-spiking (LTS) interneuron subpopulations were clearly identified in both control and malformed cortex. Most intrinsic properties measured in malformed cortex were unchanged, suggesting that subtype identity is maintained. However, LTS interneurons in lesioned cortex had increased maximum firing frequency, decreased initial afterhyperpolarization duration, and increased total adaptation ratio compared to control LTS cells. FS interneurons demonstrated decreased maximum firing frequencies in malformed cortex compared to control FS cells. These changes may increase the efficacy of LTS while decreasing the effectiveness of FS interneurons. These data indicate that differential alterations of individual neuronal subpopulations may endow them with specific characteristics that promote epileptogenesis. PMID:21167139

George, Amanda L; Jacobs, Kimberle M

2011-02-16

313

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

314

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

SciTech Connect

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

Boyvat, Fatih, E-mail: boyvatf@yahoo.com; Aytekin, Cueneyt; Harman, Ali; Ozin, Yasemin [Baskent University, Faculty of Medicine, Department of Radiology (Turkey)

2006-10-15

315

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

316

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

317

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

318

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

E-print Network

Stage Development, Demonstration, and Product Launch of Cummins Westport ISX11.9 G natural gas engine $1&T Compressed Natural Gas Aerial Lift Trucks for California $6,499,200 $0 80.5% Finalist 44 Transpower ElecSTATE OF CALIFORNIA ­ NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY

319

Arnold Tongues in human cardiorespiratory systems Mark McGuinness and Young Hong  

E-print Network

is a pacemaker for respiration). Examination of the Arnold tongues reveals that while RSA can cause synchronisation, the strongest mechanism for synchronisation is CVC, so that the heart is acting as a pacemaker that the heart can act as a pacemaker for respiration, and that this is a stronger mechanism for synchronisation

McGuinness, Mark

320

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

321

TRANSIT LIGHT-CURVE SIGNATURES OF ARTIFICIAL OBJECTS Luc F. A. Arnold  

E-print Network

TRANSIT LIGHT-CURVE SIGNATURES OF ARTIFICIAL OBJECTS Luc F. A. Arnold Observatoire de Haute Earth-like planets by the transit method, will a fortiori also be able to detect the transits distinguishable from natural transits. If only one artificial object transits, detecting its artificial nature

Arnold, Luc

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

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

ERIC Educational Resources Information Center

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

Koelsch, William A.

2008-01-01

324

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,000,000 $5,000,000 82 Awardee 2 Stion Corporation Stion MOCVD Capital Project $5,000,000 $5,000,000 79 Capital Project $5,000,000 $5,000,000 79 Awardee 3* Solar Power, Inc. Photovoltaic Panel Manufacturing

325

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

326

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.

327

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

E-print Network

tothereservoir-monitoringproblembyanalyzingrepresenta- tive 2D models.These studies show that CSEM responses exThe feasibility of reservoir monitoring using time-lapse marine CSEM Arnold Orange1 , Kerry Key1 remaining reserves. We examine the applicability of the marine controlled-source electromagnetic CSEM method

Key, Kerry

328

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

329

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-5512 (916) 654-4381 www.energy.ca.gov Addendum 4 April 5, 2010 PON-09-006 GRANT SOLICITATION APPLICATION PACKAGE Alternative and Renewable Fuel and Vehicle Technology Program Subject Area: Alternative

330

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-5512 (916) 654-4381 www.energy.ca.gov Addendum 5 April 26, 2010 PON-09-006 GRANT SOLICITATION APPLICATION PACKAGE Alternative and Renewable Fuel and Vehicle Technology Program Subject Area: Alternative

331

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

332

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.

333

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

E-print Network

remaining reserves. We examine the applicability of the marine controlled-source electromagnetic CSEM methodThe feasibility of reservoir monitoring using time-lapse marine CSEM Arnold Orange1 , Kerry Key1 and suggest the method could be utilized with present-day technology. INTRODUCTION The utility of the marine

Constable, Steve

334

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

E-print Network

Via E-Filing RE: Klamath Hydroelectric Project (FERC Project No. 2082). California Energy CommissionSTATE OF CALIFORNIA ­ THE RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY COMMISSION 1516 NINTH STREET SACRAMENTO, CA 95814-5512 www.energy.ca.gov April 19, 2007 Ms. Philis Posey

335

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

E-print Network

STATE OF CALIFORNIA -- CALIFORNIA NATURAL RESOURCES AGENCY Arnold Schwarzenegger, Governor Preservation Officer (SHPO) to ensure proposed projects will have no adverse effects on any historic resources and to categorically exclude some projects from the SHPO's direct review and consultation. Because of their nature

336

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

E-print Network

.state.ca.us]. Notices and documents for this proceeding are posted to the Energy Commission website at [www.energy.ca.gov/recovery at [www.energy.ca.gov/recovery]. Date: November 23, 2010 STATE OF CALIFORNIA ENERGY RESOURCES CONSERVATIONSTATE OF CALIFORNIA -- NATURAL RESOURCES AGENCY ARNOLD SCHWARZENEGGER, Governor CALIFORNIA ENERGY

337

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

NASA Astrophysics Data System (ADS)

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

Guo, Qing; Liu, Zhengjun; Liu, Shutian

2010-12-01

338

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.

339

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

340

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

341

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

342

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

343

Radiotherapy for intraarticular venous malformations of the knee.  

PubMed

Intraarticular venous malformation (IAVM) of the knee is a rare vascular disease that manifests with pain, swelling, and hemarthrosis. A young man with left knee pain and swelling was admitted to our institution for the treatment of the IAVM of the left knee which was diagnosed by a local orthopedic doctor via arthroscopy. A total dose of 40 Gy of radiotherapy was delivered with a daily dose of 2.0 Gy using 6 MV X-ray beams and a linear accelerator through anteroposterior portals. Fifteen months after radiotherapy, follow-up examination using radiologic imaging showed distinct shrinkage of the venous malformations. Swelling and pain of the left knee had decreased, and range of motion of the left knee was maintained. This report describes a case involving a 38-year-old man with IAVM of the left knee in whom favorable outcomes were obtained in response to radiotherapy. PMID:25017778

Fujita, Takeshi; Okimoto, Tomoaki; Ito, Katsuyoshi; Tanabe, Masahiro; Matsunaga, Naofumi

2014-11-01

344

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

PubMed

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

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

2014-05-01

345

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. PMID:25629087

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

2015-01-01

346

An unusual presentation of type II Abernethy malformation.  

PubMed

Abernethy malformation is a rare anomaly of the splanchnic venous system. We report a case of an unusual portosystemic shunt via a dilated inferior mesenteric vein. A 20-year-old woman was referred to our hospital with complains of nonspecific abdominal pain for almost 3 years and hematochezia since 15 months old. Computed tomography and further transhepatic splenoportography revealed a hypoplastic portal vein and a giant inferior mesenteric vein, via which part of the portal venous blood drained into the inferior vena cava. The patient underwent a surgical ligation of the portocaval shunt and recovered well. We believe that this is the first case of type II Abernethy malformation presenting as a portosystemic shunt via the giant inferior mesenteric vein. PMID:24530574

Lu, Jingbo; Lin, Zhiqi; Liu, Hao; Liu, Zhengjun

2014-08-01

347

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.  

PubMed

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. PMID:25711261

Uysal, Berfin; Dönmez, Osman; Uysal, Fahrettin; Akac?, Okan; Vuru?kan, Berna Aytaç; Berdeli, Afig

2015-02-01

348

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

349

Epidemiology, diagnostics and treatment of vascular tumours and malformations.  

PubMed

Vascular tumours and vascular malformations are common vasculose anomalies characteristic for dissimilar clinical course, specific biological as well as immune cytological and histological properties. Vascular lesions classification system and their detailed division into groups and subgroups were elaborated and implemented in Rome, in 1996, during meeting of the International Society for the Study of Vascular Anomalies (ISSVA). It was based on modification of an earlier going division by Mullikien and G?owacki from 1982. Infantile hemangiomas are the most numerous group of benign tumours of mesenchymal origin. Vascular malformations appear definitely less often. They are composed of normal endothelium lined displastic vessels which originate from vascular tissue abnormal morphogenesis. In contrast, in hemangiomas, at the proliferation stage, increased, multiplication of endothelial cells is observed as well as of fibroblasts, mastocytes and macrophages. Infantile hemangiomas are usually not present at the moment of birth and white chloasma with superficial teleangiectasis appears which increases within 3-4 weeks and gets bright red colour and reveal very characteristic clinical course basing on intensive growth period and involution long process. Vascular malformations are observed most often at the delivery moment or they may appear at an early childhood. They enlarge proportionally along with the child's growth and their sudden expansion may be triggered by an infection, hormonal changes or trauma. Contrary to hemangiomas, they do not subside spontaneously and their abrupt increase may result in impairment or deformation of important anatomical structures. Infantile hemangiomas and vascular malformations require different and individual treatments which are often multi-stage procedures carried on in specialistic centres of plastic surgery, vascular surgery or maxillofacial surgery. PMID:24979522

Wójcicki, Piotr; Wójcicka, Karolina

2014-01-01

350

Parenting children with anorectal malformations: implications and experiences  

Microsoft Academic Search

Parents play a crucial role in the life of a child suffering from an anorectal malformation (ARM), since their guidance contributes\\u000a to the degree to which the child learns to cope with his or her disability. We investigated whether they experience stress\\u000a in parenting such a child and also attempted to identify somatic or behavioral characteristics in the child that

E. A. M. Hassink; A. T. M. Brugman-Boezeman; L. M. H. Robbroeckx; P. N. M. A. Rieu; E. M. van Kuyk; P. M. A. Wels; C. Festen

1998-01-01

351

VATER association: report of a case with three unreported malformations.  

PubMed Central

The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the bladder and penis and an askeletal rudimentary tail. The latter have not previously been described. Images PMID:3351894

Dusmet, M; Fête, F; Crusi, A; Cox, J N

1988-01-01

352

Ultrasound diagnosis and perinatal management of surgically correctable fetal malformations.  

PubMed

Among 276 fetal malformations detected during the nine year period there were 97 potentially correctable anomalies which are described in detail as are the antenatal and postnatal corrective procedures undertaken. On 35 hydrocephalic fetuses 9 were operated upon postnatally in the last 2 yr. Three months after the operation four of the babies were found to be developing normally, three moderately well while two were severely retarded. Two out six babies with cystic hygroma were successfully operated after birth and their development is now normal. Of 23 malformations of the gastro-intestinal tract (two diaphragmatic hernias, three esophageal, four duodenal and four jejunal atresias, seven omphalocele, three gastroschisis) 13 babies were successfully operated and are developing normally. In 8 out of 10 antenatally detected cases of obstructive uropathy antenatal intervention was undertaken. In one case a shunt catheter was inserted for the last three weeks before delivery. Puncture and urine evacuation was performed in seven of the babies. Five were live born and surgical correction was successfully undertaken after birth, while two died (one multiple malformations and the other respiratory distress syndrome). After excluding multiple and chromosomal anomalies the best results are obtained in the correction of gastro-intestinal tract atresia (9 of 11) and obstructive uropathy (5 of 7), where once a passage has been established the baby develops normally. Interventions such as shunts in hydrocephalic babies are always a matter for discussion in relation to the final outcome, but when there is no other choice, this too is a way of endeavouring to help such a baby. Early antenatal diagnosis is therefore extremely important when interruption of pregnancy is still feasible. In cases of malformations detected at a later gestational age early diagnosis facilitates the assessment of the development of the affected organ, possible timely antenatal correction, team consultation regarding the time and mode of delivery and preparations for postnatal correction. Such an antenatal approach makes it possible to significantly influence the perinatal outcome. PMID:6239438

Kurjak, A; Gogolja, D; Kogler, A; Latin, V; Rajhvajn, B

1984-01-01

353

Novel Image-Guided Management of a Uterine Arteriovenous Malformation  

SciTech Connect

The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

Przybojewski, Stefan J., E-mail: drstefanp@hotmail.com; Sadler, David J. [University of Calgary, Diagnostic Imaging Department, Foothills Hospital (Canada)

2011-02-15

354

Asymmetric crying facies: a possible marker for congenital malformations.  

PubMed

Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of Fallot (TOF) and deletion of chromosome 22q11. PMID:16318980

Rioja-Mazza, Dora; Lieber, Ernest; Kamath, Vasudeva; Kalpatthi, Ram

2005-10-01

355

Risk of Endovascular Treatment of Brain Arteriovenous Malformations  

Microsoft Academic Search

Background and Purpose—Independently assessed data on frequency, severity, and determinants of neurological deficits after endovascular treatment of brain arteriovenous malformations (AVMs) are scarce. Methods—From the prospective Columbia AVM Study Project, 233 consecutive patients with brain AVM receiving1 endovascular treatments were analyzed. Neurological impairment was assessed by a neurologist using the Rankin Scale before and after completed endovascular therapy. Multivariate logistic

A. Hartmann; J. Pile-Spellman; C. Stapf; R. R. Sciacca; A. Faulstich; J. P. Mohr; H. C. Schumacher; H. Mast

2002-01-01

356

Malformations of cortical development: clinical features and genetic causes.  

PubMed

Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders. PMID:24932993

Guerrini, Renzo; Dobyns, William B

2014-07-01

357

Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis  

SciTech Connect

Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

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

1995-12-31

358

Sonographic markers for early diagnosis of fetal malformations  

PubMed Central

Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

2013-01-01

359

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

360

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

Federal Register 2010, 2011, 2012, 2013, 2014

...of operation for Duane Arnold Energy Center (DAEC). DAEC is located...Cedar Rapids, Iowa. Potential alternatives to the proposed action (license...include no action and reasonable alternative energy sources. The draft Supplement 42...

2010-02-10

361

Haemangiomas and vascular malformations of the limb in children.  

PubMed

Haemangiomas and vascular malformations of the limb in children are often difficult to manage. The role of surgery and intervention in current management is still not clear. The aim of this study was to review our experience of such patients. Patients were identified using the health board database of inpatient admissions between 1999 and 2003. Clinical notes were reviewed and data collected looking at patient demographics, site of lesion, clinical findings, investigative procedures, intervention and follow-up. A total of 288 patients were identified with a diagnosis of "Haemangioma" or "vascular malformation". Thirty-eight of these patients were found to have limb haemangiomas or vascular malformations (20 boys and 18 girls). The median age at referral was 1.9 years (0-13.2). The clinical presentation included gigantism, swelling, bruising, bleeding and cosmetic concern. Cosmetic concerns and bleeding being the most frequent. Investigative modalities were used in 19 patients. These included ultrasound, CT, MRI and angiography. Many patients had more then one imaging modality employed. Treatment options included observation, steroids, laser, embolisation and surgical excision. Twenty-five patients (66%) required surgical intervention. Most patients were required one or two procedures, mainly laser or simple excision. However two patients required multiple procedures while one patient with Kasabach-Merritt syndrome required a limb amputation. Patients were followed-up for a median of 3.75 years (0.08-14). Two patients were lost to follow-up. Two patients were noted to have related psychological problems. Haemangiomas and vascular malformations of the limb can be associated with significant functional impairment, especially if they are extending to deeper tissue planes. Such patients are likely to require surgical intervention. For many patients referred to tertiary care, surgery is still the mainstay of treatment and the only curative option. Serious complications were more common in patients with arterio-venous malformations and Kasabach-Merritt syndrome. Two of 38 patients (5.3%) were referred for formal psychological assessment. Given the potential for psychological morbidity we fear this is an aspect of care that may be under-recognised and require further specialist input. PMID:17390139

Steven, Mairi; Kumaran, Nagarajan; Carachi, Robert; Desai, Ashish; Bennet, George

2007-06-01

362

A syndromal and an isolated form of uterine arteriovenous malformations: two case-reports.  

PubMed

Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions were found in conjunction with other congenital malformations suggesting the diagnosis of hemihyperplasia/lipomatosis syndrome. Etiology, symptoms, diagnostic and therapeutic work-up are discussed; pathological findings are illustrated. PMID:11728664

Geerinckx, I; Willemsen, W; Hanselaar, T

2001-12-10

363

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

364

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

PubMed Central

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

Tsauo, Jiaywei; Li, Xiao

2015-01-01

365

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

PubMed

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

Tsauo, Jiaywei; Li, Xiao

2015-03-01

366

Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report.  

PubMed

Background. Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of hematopoietic stem cells involving all blood cells. Erythrocytes have increased susceptibility to complement-mediated haemolysis. Thrombosis is the leading cause of mortality and follows episodes of acute hemolysis. Eculizumab, a monoclonal antibody blocking activation of complement C5 is currently used in the treatment of PNH. Recent results demonstrated that eculizumab effectively reduces thrombosis. Description of case. We present a 30-year-old male patient admitted with abdominal and lumbar pain. Thorough investigation revealed severe hemolytic anemia requiring transfusions and hepatosplenomegaly. Imaging findings were compatible with a Budd-Chiari syndrome. Flow cytometry confirmed the PNH diagnosis. Due to refractory ascites he underwent a transjugular intrahepatic portal-systemic shunt (TIPS) and eculizumab administration was started. Results. He has already completed three years of eculizumab treatment and he is transfusion independent. There is also a significant reduction in fatigue with improvement in his quality of life. Doppler scans of his TIPS persistently show it to be patent. Conclusions. Classical PNH patients with thrombosis and severe intravascular hemolysis are particularly challenging to manage. For these patients, eculizumab is a reasonable therapeutic option, expecting that by decreasing the risk for thrombosis, life expectancy may be increased. PMID:23935352

Mandala, E; Lafaras, C; Goulis, I; Tsioni, K; Georgopoulou, V; Ilonidis, G

2013-01-01

367

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

368

Mutations in ?- and ?-tubulin encoding genes: implications in brain malformations.  

PubMed

The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression pattern. Members of this family encode dimeric proteins consisting of two closely related subunits (? and ?), representing the major constituents of microtubules. Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance (axon outgrowth and maintenance). Different mutations in ?/?-tubulin genes (TUBA1A, TUBA8, TUBB2A, TUBB4A, TUBB2B, TUBB3, and TUBB) might alter the dynamic properties and functions of microtubules in several ways, effecting a reduction in the number of functional tubulin heterodimers and causing alterations in GTP binding and disruptions of the binding of other proteins to microtubules (motor proteins and other microtubule interacting proteins). In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. Dysmorphisms of the basal ganglia (fusion between the caudate nucleus and putamen with absence of the anterior limb of the internal capsule) and hippocampi were also observed. A rare form of leukoencephalopathy characterized by hypomyelination with atrophy of the basal ganglia an cerebellum (H-ABC) was also recently described. The present review, describing the structural and functional features of tubulin genes, aims to revise the main cerebral associated malformations and related clinical aspects, suggesting a genotype-phenotype correlation. PMID:25008804

Romaniello, Romina; Arrigoni, Filippo; Bassi, Maria Teresa; Borgatti, Renato

2015-03-01

369

Late presentation of congenital cystic adenomatoid malformation of the lung  

SciTech Connect

Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

1984-06-01

370

[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

371

Polypoid Arteriovenous Malformation Presenting with Jejunojejunal Intussusceptions in an Adult  

PubMed Central

Jejunal polypoid arteriovenous malformations (AVMs) and jejunojejunal intussusceptions are both rare. Here, we present the case of a 61-year-old woman who suffered intermittent episodes of abdominal pain over the course of 13 years. A computed tomography scan of her abdomen and pelvis revealed a distal jejunojejunal intussusception. A suspected low density mass was observed at the tip of the intussusception. Treatment comprised laparoscopic small bowel resection with end-to-end jejunostomy. The final diagnosis was a polypoid AVM measuring 5×3.5×3 cm. We suggest that polypoid AVM should be considered as a differential diagnosis in patients presenting with small intestinal neoplasms. PMID:25505727

Lim, Doo-Ho; Seo, Myeongsook; Yun, Ji Hyun; Kim, Tae Hyung; Jung, Hwoon-Yong; Kim, Jin-Ho; Park, Young Soo

2014-01-01

372

Treatment of vascular malformation of the gastrointestinal tract  

NASA Astrophysics Data System (ADS)

Vascular malformations of the gastrointestinal tract are rare phenomenon. They are generally manifested by upper or lower GI - bleeding and do not resolve spontaneously. Emergency intervention is necessary. This paper reports on 10 cases, treated in the Dept. of Pediatric surgery of the FU Berlin, recorded from 1981 to 1999. We use the Nd:YAG laser 1064 nm, Fibertom 5100, Dornier, Germany, with a 600nm barefiber. Reduction in size of the hemangiomas and stop of the GI-bleeding was achieved in all cases.

Waldschmidt, Juergen; Stroedter, L.; Doede, T.; Kischkel, A.

2000-06-01

373

["Arnold Näf: an extract from notes of the entire veterinary medicine of 1864"].  

PubMed

Arnold Näf studied Veterinary Medicine at the Tierarzneischule in Zürich from 1861 to 1864. During the lectures in clinical medicine he made several notes, which were published in the book: "Arnold Näf: Notes from the entire veterinary medicine 1864". In the present work the person of prosector Meyer together with his lectures about obstetrics, horse shoeing, specific pathology and therapy as well as prescription science are described in more detail. Hans Jakob Meyer was born in Schlieren, January 10, 1831 and died May 8, 1895. He was teaching Veterinary Medicine from 1855 to 1895 at the Tierarzneischule in Zürich. The therapy about glanders, mange and strangles in the horse was compared with the contemporary literature. Partial agreement with the application of substances used at that time has been found. PMID:18306935

Baumgartner, M

2008-01-01

374

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

375

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...

376

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

377

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

Microsoft Academic Search

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.

Jeanette C. Ramer; R. L. Ladda; A. E. Lin; Robin Winter; Ségolène Aymé; Rosanna Pallotta

1995-01-01

378

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs  

USGS Publications Warehouse

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

2001-01-01

379

A review of contemporary options for medical management of hemangiomas, other vascular tumors, and vascular malformations.  

PubMed

Vascular anomalies include vascular tumors and vascular malformations. With growing pharmacologic options and parallels to cancer treatment and biology, the hematologist-oncologist has assumed a more prominent role in clinical care and research relating to these diagnoses. This also is a growing area for targeted therapies and drug repositioning. We performed a review of contemporary options for medical management of these lesions. PubMed was searched for "vascular anomaly", "hemangioma", "vascular malformation", "arteriovenous malformation", "capillary malformation", "cerebral cavernous malformation", "lymphatic malformation", and "venous malformation", each with "drug treatment" as a modifier. Manuscripts were reviewed to verify diagnoses, indications for treatment, dose-schedules, evidence of effectiveness, toxicities, and mechanisms of action. ClinicalTrials.gov also was reviewed for relevant trials. More than 20 agents were identified which have been used to treat vascular anomalies. Rigorous studies are lacking for many of these. The rarity of these tumors has limited development of medical approaches to treatment. Cooperative group trials will be needed to prove the effectiveness of drugs which have shown promise in cases and small series. The observant clinician remains a powerful tool for identifying potential new treatments for vascular tumors and malformations. PMID:23665062

Blatt, Julie; McLean, Thomas W; Castellino, Sharon M; Burkhart, Craig N

2013-09-01

380

Congenital malformations in offspring of women with hyperglycemia first detected during pregnancy  

Microsoft Academic Search

Objectives: Our aim was to determine risk factors for congenital malformations in offspring of women with hyperglycemia first detected during pregnancy (i.e., women with gestational diabetes). Study Design: A total of 3743 pregnancies complicated by gestational diabetes mellitus delivered at >20 weeks of gestation were reviewed for the presence of congenital malformations diagnosed before hospital discharge. Anomalies were categorized as

Ute M. Schaefer; Giulana Songster; Anny Xiang; Kathleen Berkowitz; Thomas A. Buchanan; Siri L. Kjos

1997-01-01

381

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach  

Microsoft Academic Search

Genetic malformations of the cerebral cortex are important causes of neurologic morbidity in children because they are often associated with developmental delay, motor disturbances (cerebral palsy), and epilepsy. Primary autosomal recessive microcephaly is a cortical malformation with a low incidence of epilepsy. One of its causative genes, ASPM, might play an important role in regulating proliferation of neuronal progenitor cells.

Ganeshwaran H. Mochida

2004-01-01

382

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach  

Microsoft Academic Search

Genetic malformations of the cerebral cortex are important causes of neurologic morbidity in children because they are often associated with developmental delay, motor disturbances (cerebral palsy), and epilepsy. Primary autosomal recessive microcephaly is a cortical malformation with a low incidence of epilepsy. One of its causative genes, ASPM, might play an important role in regulating proliferation of neuronal progenitor cells.

Ganeshwaran H. Mochida

2005-01-01

383

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

384

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

385

Long-time octreotide in an adolescent with severe haemorrhagic gastrointestinal vascular malformation  

Microsoft Academic Search

Gastrointestinal vascular malformations are a rare cause of acute or chronic blood loss. Usually they are treated by endoscopic obliteration or surgical resection. When such a therapy is inapplicable, pharmacotherapy may be required. At the age of 15 years, our female patient suffered from transfusion dependent recurrent gastrointestinal haemorrhage due to multiple gastrointestinal vascular malformations. Gastroscopy, coloscopy and capsule endoscopy

Carl Friedrich Classen; Dieter Haffner; Christina Hauenstein; Ricarda Wolf; Ulrike Kyank

2011-01-01

386

Brainstem auditory evoked potential abnormalities in vascular malformations of the posterior fossa  

Microsoft Academic Search

Recent reports indicate that malformations of arteries and veins in the posterior fossa are a common cause of facial spasm and trigeminal neuralgia. More rarely they may also cause facial nerve paresis and hearing loss. When vascular malformations are present, brainstem auditory evoked potentials (BAEPs) sometimes show abnormalities similar to those usually recorded in patients with tumours in the cerebellopontine

U. W. Buettner; M. Stöhr; E. Koletzki

1983-01-01

387

[Spain, New Spain and the autopsy of an anatomic malformation].  

PubMed

Almost 250 years ago the autopsy of Agustin de Ahumada y Villalon was performed by Domingo Russi, Chief Surgeon at the Royal Hospital for Natives in Mexico City. This situation will be unimportant if the former wasn't the 42nd Viceroy of New Spain; his autopsy showed a situs inversus totalis, and probably this is the first scientific report of such malformation. For many years the report by Mathew Baillie (1761-1823) of an autopsy with the same findings as the first of its kind was believed, but actually the former almost three decades earlier was performed. In 1688 Jean M. Mery (1645-1722) at the Paris Academy of Medicine gave a talk reporting autopsy findings of the same malformations. Some aspects of the life of both personages are described, the autopsy report is showed and a short history about postmortem studies are mentioned mainly those made in Spain and New Spain. Through many centuries a very close relationship has been kept and medicine has not been the exception, in the field of human pathology in the middle third of the 20th century a distinguished pathologist, Dr. Isaac Costero-Tudanca, migrated to Mexico and gave flowering to pathology and a great generation of Mexican pathologists was generated headed by Dr. Ruy Perez-Tamayo. PMID:18807740

de la Garza-Villaseñor, J Lorenzo; Pantoja-Millán, Juan Pablo

2008-01-01

388

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations  

PubMed Central

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype. PMID:25354366

Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P.; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

2014-01-01

389

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations  

PubMed Central

Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

2013-01-01

390

Dural arteriovenous malformations in the anterior cranial fossa.  

PubMed

Two cases of dural arteriovenous malformation (DAVM) fed by the anterior ethmoidal artery in the anterior cranial fossa are reported, one of them examined by magnet resonance imaging (MRI). Only one other case with MRI findings so far has been published. Fourty-eight previously reported cases are reviewed. One of our patients presented with subdural haematoma (SDH) without subarachnoid or intracerebral haemorrhage. The other patient had a nasal bleed without any neurological manifestations. In comparison with previously reported cases, the clinical manifestation of our cases is infrequent (1 patient with nasal bleed, and 2 patients with pure SDH that is 2 and 4%, respectively, in the literature). Feeder was the anterior ethmoidal artery either unilateral or bilateral. Drainage of DAVMs was through a markedly dilated vascular sac into the superior sagittal sinus (SSS). The high incidence of haemorrhage from DAVM in the anterior fossa is related to this vascular sac. Magnetic resonance imaging (MRI) showed a flow void area in the left frontal region on T 1-weighted images in one case. These cases were treated by surgical excision of the malformation with good results. Aetiology, clinical presentation, and treatment of these rare DAVMs in the anterior cranial fossa is discussed. PMID:7847155

Ba?kaya, M K; Suzuki, Y; Seki, Y; Negoro, M; Ahmed, M; Sugita, K

1994-01-01

391

Morphological and functional aspects of progenitors perturbed in cortical malformations  

PubMed Central

In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs), which are renowned for their unique morphological and behavioral characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signaling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area. PMID:25729350

Bizzotto, Sara; Francis, Fiona

2015-01-01

392

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

393

The surgical management and outcome of congenital mediastinal malformations  

PubMed Central

We reviewed our institutional experience with congenital mediastinal masses and compared the postnatal management and outcome of patients with or without prenatal diagnosis. Between January 1997 and August 2011, 24 patients underwent surgical procedures for congenital mediastinal mass. For eight patients, the mass was detected by prenatal ultrasonography at 27 weeks of gestation (range 22–35). Postnatal management consisted in open surgery for seven patients at a mean age of 9 months (range 1 day–20 months) and sclerotherapy for one lymphangioma at 5 months of life. Sixteen patients had postnatal diagnosis at 137 months (±194) of median age. Eight bronchogenic cysts, seven bronchopulmonary foregut malformations, five teratomas, three lymphangiomas and one haemangioma were operated on. The median age at resection was 28 months (1 day–15 years). There were four emergency procedures and no surgical mortality. The median follow-up was 45 months (3–144). The duration of mechanical ventilation and hospital stay was, respectively, 4.6 h and 7.5 days for antenatal patients and 24.3 h and 14.3 days for postnatal diagnosed patients. Prenatal diagnosis allows early management of congenital mediastinal malformations. Early resection can be performed prior to the occurrence of symptoms ?1 year of life and is associated with an excellent outcome and less morbidity. PMID:22394988

Ballouhey, Quentin; Galinier, Philippe; Abbo, Olivier; Andrieu, Guillaume; Baunin, Christiane; Sartor, Agnès; Rittié, Jean Luc; Léobon, Bertrand

2012-01-01

394

Split cord malformation associated with spinal open neural tube defect  

PubMed Central

Objective: To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment. Methods: A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi Arabia between 1995 and 2010. Results: There were 6 girls and 5 boys; their age ranged from less than a year to 9 years (mean 4.2 years). Six patients had type I SCM, and 5 patients type II SCM. The CT and MRI imaging showed characteristic bony, cartilaginous, or fibrous septum, and other SONTD-associated anomalies. Seven patients were graded A & B according to the Frankel grading score, and none of them required surgery, while worsening neurology led to surgical intervention in 3 patients, with clinical improvement after surgery, and one patient that underwent cord untethering remained stable. Conclusion: Split cord malformation is not uncommon among patients with SONTD. It tends to involve mainly the lumbar spine, and female predominance is more remarkable in type I. Neurological manifestations of SCM may be superimposed with SONTD. Surgery is effective for symptomatic patients, and not indicated in the severely disabled. PMID:25551111

Elgamal, Essam A.; Hassan, Hamdy H.; Elwatidy, Sherif M.; Altwijri, Ikhllas; Alhabib, Amro F.; Jamjoom, Zain B.; Murshid, Waleed R.; Salih, Mustafa A.

2014-01-01

395

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

396

Prediction of the hazard of foetal malformation in pregnant women with epilepsy.  

PubMed

The data collected in the Australian Register of antiepileptic drugs in pregnancy have been studied in the hope of defining simple items of information that could be recorded at initial interview of pregnant women with epilepsy, and which might allow estimation of the risk of the pregnancy resulting in a malformed foetus. Analysis of the data showed that dose of valproate, but not intake of other commonly used antiepileptic drugs, in the current pregnancy, and a past history of a pregnancy involving a malformed foetus, statistically significantly increased the malformation hazard in the current pregnancy, and that continuing alcohol intake might decrease it. Plotting the hazard against valproate dose in monotherapy, with or without histories of (i) previous pregnancies with foetal malformations (FMs), and (ii) continuing alcohol intake, provided quantitative information concerning the degree of increased risk. It is hoped that this information may help in advising about the risk of foetal malformation (FM) in individual pregnancies. PMID:24880523

Vajda, F J E; O'Brien, T J; Graham, J; Lander, C M; Eadie, M J

2014-08-01

397

Cerebral volumetric analysis over time in children with malformations of cortical development: a quantitative investigation.  

PubMed

Malformations of cortical development are common neurological disorders characterized by disruptions in the normal development of cerebral gray and white matter during fetal life. We performed a quantitative, partly longitudinal investigation of cerebral volumes in a cohort of children with cortical malformations to investigate how their anatomical abnormalities change over time. Cortical malformation subjects showed volumetric curves that were comparable with those reported for healthy individuals, and reached peak cerebral volume, gray matter volume, and white matter volume at ages similar to those reported for healthy children. Volumes of heterotopic gray matter, however, demonstrated increases that were out of proportion to changes in cortical volume or caudate nucleus volume, suggesting that misplaced gray matter can have a unique pattern of maturation. Our findings demonstrate that overall brain growth in children with cortical malformations appears to mirror that of the healthy population, although malformed regions can show distinct growth patterns. PMID:21189336

Walker, Linsey M; Poduri, Annapurna; Chang, Bernard S

2011-02-01

398

The archipelago of Fernando de Noronha: an intriguing malformed toad hotspot in South America.  

PubMed

Malformed anurans raise concern among scientists, because deformities may relate to the recent global crisis among amphibian populations, although declining populations also may be associated with other causes (e.g., diseases, over-exploitation, and land use/land cover change). We examined a sample of toads (Rhinella jimi, Bufonidae) from an introduced population in the Archipelago of Fernando de Noronha, Brazil where malformations of anurans were thought to be high. Our sample of 159 specimens from the site revealed that 44.6% of all specimens had one or more malformations. Incidence of malformed toads on the mainland sites was substantially lower: 10.5% at Itamaracá, and 3.7% at Propriá. We describe the malformations observed, including six undescribed types of malformation of anurans, and we pose possible hypotheses to explain this high incidence of malformed toads. In addition to existing hypotheses, we suggest for the first time the hypothesis that lack of predation pressures contributes to numbers of malformed toads. We indicate the need of specific studies to understand the causes of malformations in the R. jimi population of Fernando de Noronha, which is thought to be extreme foci of malformed amphibians in the world. Our results may improve local conservation action plans as this is an alien population that may be affecting endemic fauna, and may affect populations in other parts of the world, because toad species of the genus Rhinella are recognized as exceptional colonizers. More importantly, unknown variables in these toads' environment are evidently affecting toads during development, which should be a concern for all species that inhabit the area, perhaps even humans. PMID:20112047

Toledo, Luís Felipe; Ribeiro, Ricardo S

2009-09-01

399

An update on the management of Budd-Chiari syndrome: the issues of timing and choice of treatment.  

PubMed

Because of the rarity of Budd-Chiari syndrome (BCS), the flow chart of management comes from expert opinion and is not evidence based. To report an update on the management of BCS. I performed a review on published papers on BCS in an attempt to speculate in particular on the timing and the choice of treatment. Some authors suggest that the management of BCS should follow a step-wise strategy. Anticoagulation and medical therapy should be the first-line treatment. Revascularization or transjugular intrahepatic portosystemic shunt should be performed in case of no response to medical therapy. Orthotopic liver transplant should be used as a rescue therapy. The biggest criticism of this flow chart is that it is based on the assumption that patients with BCS should receive further treatment only when hemodynamic effects on portal hypertension become clinically evident, thus paying little attention to the chronic ischemic liver damage effects on hepatic function and to the possibility of preventing liver failure by relieving impaired hepatic veins outflow. Recently, I presented a proposal of a new algorithm for the management of BCS, in which medical therapy alone is suggested only for patients without any sign of portal hypertension, irrespective of whether early interventional treatment is suggested when either any symptoms or signs of portal hypertension appear, with the aim of preventing hepatic fibrosis development, disease progression, and finally improving outcome. Given that the benefit of treatments for BCS is not under debate, guidelines for the management of BCS should be re-evaluated and updated, with particular attention to both the timing and the choice of treatment. PMID:25590783

Mancuso, Andrea

2015-03-01

400

Development of a canine model with diffuse hepatic vein obstruction (Budd?Chiari syndrome) via endovascular occlusion.  

PubMed

The aim of the present study was to develop a reliable and reproducible canine model to mimic human diffuse hepatic vein obstruction (Budd?Chiari syndrome, BCS). A total of 24 canines were divided into an experimental (n=18) and a control (n=6) group. Under the guidance of digital subtraction angiography, a balloon catheter was delivered to the target hepatic vein (the common trunk of the left hepatic and middle hepatic veins) via the right external jugular vein. The balloon was inflated to completely block the vessels. For the canines in the experimental group, a mixture of N?butyl?cyanoacrylate (NBCA) and lipiodol (3?5 ml) was injected via the balloon catheter. Canines in the control group were injected with equal volumes of normal saline. Liver function and pathology were examined at 4, 6 and 8 weeks following surgery. BCS was successfully established in all members of the experimental group and there were no serious complications in either group. The left and middle hepatic veins and common trunk were completely obstructed at 4, 6 and 8 weeks following surgery in the experimental group, while in the control group, the hepatic vein remained unobstructed at 4 weeks. There was hepatocyte congestion and edema at 4 weeks following surgery in the experimental group and the edema became aggravated following 6 weeks. At 8 weeks following surgery, there was necrosis of hepatocytes and significant thickening of the hepatic vein tunica intima in addition to an increased number of elastic fibers. In conclusion, the present study demonstrates that a reliable and reproducible canine model of BCS can be developed by endovascular obstruction of the hepatic vein. PMID:24345960

Shen, Bin; Zhang, Qingqiao; Wang, Xiaolong; Xu, Hao; Zu, Maoheng; Wu, Meng; Gao, Zhikang; Wang, Wenliang; Xiao, Jinchang; Wang, Yong

2014-02-01

401

Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies  

USGS Publications Warehouse

Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

402

Growing Dural Sinus Malformation with Associated Developmental Venous Anomaly, Multiple Cavernomas and Facial Venous Malformation in an Infant  

PubMed Central

Summary This is an unusual case report of an infant, who initially presented with a facial haemangioma and was later diagnosed to have a dural sinus malformation (DSM) involving the torcula. The DSM increased in size lateralising to the right transverse sinus at three months of age. Postnatal enlargement of the dural sinus has not been described before suggesting a delay in the maturation of the dural sinus which normally would occur antenatally. There was a further association with a complex developmental venous anomaly (DVA) draining the right cerebral hemisphere into the deep cerebral vein and multiple cavernous malformations. The DVA was not clearly demonstrated at age one month but was more obvious at age three months. This would be the first reported case of DSM associated with a DVA. Increasing venous hypertension probably contributed to the poor opacification of the DVA on follow-up angiography at age six months and to the haemorrhagic changes within the cavernomas on magnetic resonance imaging (MRI). The therapeutic goal was to correct venous hypertension by partially embolising the dural shunts to remodel the cerebral vasculature and preserve the patent sinus. The treatment strategy and possible link between the complex disease entities presented in this infant are discussed. Despite these attemps, the lesion continued to grow compressing the posterior fossa structures. The infant died at nine months of age. PMID:20594504

Mohamed, Z.; Batista, LL.; Sachet, M.; Mahadevan, J.; Alvarez, H.; Lasjaunias, P.

2002-01-01

403

Analysis of Maternal Risk Factors Associated With Congenital Vertebral Malformations  

PubMed Central

Study Design A retrospective chart review of cases with congenital vertebral malformations (CVM) and controls with normal spine morphology. Objective To determine the relative contribution of maternal environmental factors (MEF) during pregnancy including maternal insulin dependent diabetes mellitus, valproic acid, alcohol, smoking, hyperthermia, twin gestation, assisted reproductive technology, in-vitro fertilization and maternal clomiphene usage to CVM development. Summary of Background Data Congenital vertebral malformations (CVM) represent defects in formation and segmentation of somites occurring with an estimated incidence of between 0.13–0.50 per 1000 live births. CVM may be associated with congenital scoliosis, Klippel-Feil syndrome, hemifacial microsomia and VACTERL syndromes, and represent significant morbidity due to pain and cosmetic disfigurement. Methods A multicenter retrospective chart review of 229 cases with CVM and 267 controls with normal spine morphology between the ages of 1–50 years was performed in order to obtain the odds ratio (OR) of MEF related to CVM among cases vs. controls. CVM due to an underlying syndrome associated with a known gene mutation or chromosome etiology were excluded. An imputation based analysis was performed in which subjects with no documentation of MEF history were treated as no maternal exposure.” Univariate and multivariate analysis was conducted to calculate the OR. Results Of the 229 total cases, 104 cases had single or multiple CVM without additional congenital malformations (CM) (Group 1) and 125 cases had single or multiple CVM and additional CM (Group 2). Nineteen percent of total cases had an identified MEF. The OR (95% CI, P-value) for MEF history for Group 1 was 6.0 (2.4–15.1, P<0.001) in the univariate analysis. The OR for MEF history in Group 2 was 9.1 (95%CI, P-value) (3.8–21.6, P<0.001) in the univariate analysis. The results were confirmed in the multivariate analysis, after adjusting for age, gender, and institution. Discussion These results support a hypothesis for an association between the above MEF during pregnancy and CVM and have implications for development of prevention strategies. Further prospective studies are needed to quantify association between CVM and specific MEF. PMID:23446706

Hesemann, Jennifer; Lauer, Emily; Ziska, Stephen; Noonan, Kenneth; Nemeth, Blaise; Scott-Schwoerer, Jessica; McCarty, Catherine; Rasmussen, Kristen; Goldberg, Jacob M.; Sund, Sarah; Eickhoff, Jens; Raggio, Cathleen L.; Giampietro, Philip F.

2014-01-01

404

Progress in the treatment of congenital malformations of the hand.  

PubMed

Treatment of congenital malformations of the hand and forearm has progressed not only from new procedures, but especially due to a new technique, namely microsurgery. Microsurgery enables skilled hand surgeons to operate on the tiny hands of babies without damaging the anatomical structures. The optimal time for the correction of many deformities is during the first 2 years of life. This gives excellent adaptation of the corrected structures to their altered function, especially in combination with a long period of further growth. Several new procedures are described which have been made possible only since the introduction of microsurgery, either by microvascular anastomoses or by meticulous dissection technique (toe transplantation, proximal toe phalanx transplantation, nail wall formation in complex syndactyly, transposition of digital parts in polydactyly and radial club hand). PMID:2256343

Buck-Gramcko, D

1990-01-01

405

Can arteriovenous malformation prevent the diagnosis of brain death?  

PubMed

We present a case of a 14-year-old boy with spontaneous intracranial hemorrhage that was referred to us to confirm the diagnosis of brain death with cerebral angiography. In the left carotid angiogram, there was no arterial flow above the craniovertebral junction. But in the right carotid angiogram, there was arterial flow up to the level of posterior communicating artery. Right posterior cerebral artery was filled with contrast medium via patent posterior communicating artery and later, an opacifying arteriovenous malformation (AVM) was detected which was also seen in the vertebral angiogram. Although the angiographic findings of the patient did not confirm the angiographic criteria for the diagnosis of brain death, it could not be also excluded because the only cerebral flow was the filling of the AVM and no other cerebral perfusion was detected. PMID:25142907

Ergun, Onur; Birgi, Erdem; Tatar, Idil Gunes; Oztekin, Mehmet Fevzi; Hekimoglu, Baki

2015-04-01

406

Advances and innovations in brain arteriovenous malformation surgery.  

PubMed

Arteriovenous malformations (AVMs) of the brain are very complex and intriguing pathologies. Since their initial description by Luschka and Virchow in the middle of the 19th century, multiple advances and innovations have revolutionized their management and surgical treatment. Here, we review the historical landmarks in the surgical treatment of AVMs and then illustrate the most recent and futuristic technologies aiming to improve outcomes in AVM surgeries. In particular, we examine potential advances in patient selection, imaging, surgical technique, neuroanesthesia, and postoperative neuro-rehabilitation and quantitative assessments. Finally, we illustrate how concurrent advances in radiosurgery and endovascular techniques might present new opportunities to treat AVMs more safely from a surgical perspective. PMID:24402494

Bendok, Bernard R; El Tecle, Najib E; El Ahmadieh, Tarek Y; Koht, Antoun; Gallagher, Thomas A; Carroll, Timothy J; Markl, Michael; Sabbagha, Randa; Sabbagha, Asma; Cella, David; Nowinski, Cindy; Dewald, Julius P A; Meade, Thomas J; Samson, Duke; Batjer, H Hunt

2014-02-01

407

Quantification of intracerebral steal in patients with arteriovenous malformation  

SciTech Connect

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

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

1986-08-01

408

Recessive LAMC3 mutations cause malformations of occipital cortical development  

PubMed Central

The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin ?3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations. PMID:21572413

Barak, Tanyeri; Kwan, Kenneth Y; Louvi, Angeliki; Demirbilek, Veysi; Sayg?, Serap; Tüysüz, Beyhan; Choi, Murim; Boyac?, Hüseyin; Doerschner, Katja; Zhu, Ying; Kaymakçalan, Hande; Y?lmaz, Saliha; Bak?rc?o?lu, Mehmet; Ça?layan, Ahmet Okay; Öztürk, Ali Kemal; Yasuno, Katsuhito; Brunken, William J; Atalar, Ergin; Yalç?nkaya, Cengiz; Dinçer, Alp; Bronen, Richard A; Mane, Shrikant; Özçelik, Tayfun; Lifton, Richard P; Šestan, Nenad; Bilgüvar, Kaya; Günel, Murat

2012-01-01

409

[Toe transplantation in congenital malformations of the hand].  

PubMed

Toe transfer is a well established procedure for thumb and finger reconstruction after mutilation. The indications in congenital malformations are a mater of controversy. Out of a personal series of 209 patients, 42 were children presenting a congenital malformation. Thirty six, with 46 transfers were available for review. There is only one failure at the beginning of our experience. The main indication was absence of pinch either due to absence of thumb (like in congenital band syndrome or some extreme cases of ulnar club hand or cleft hand) or absence of long finger (like in symbrachydactyly monodactylous type) or lack of both thumb and finger (like in peromelic type of symbrachydactyly). In this last type, we have been disappointed by the functional result of the distal implantation of two second toes taken from both feet; we have proposed a "stub" operation consisting in a second toe transfer on the anterior aspect of the radial epiphysis to take advantage of the mobility of the wrist and the availability of plenty tendon transfer (in this proximal situation). When planing to "built" an absent pincer, an early age is mandatory for operation (mean 12 months), to ensure a good cortical integration. A less frequent indication is a partial toe transfer with a vascularized epiphysis to provide growth and mobility in some cases of thumb hypoplasia (like in symbrachydactyly or Blauth and Manske type III b). Results are difficult to assess due to the early operation but if the mobility has been disappointing (mean 32 degrees), sensibility (mean 2PD 5 mm) and growth were excellent. PMID:9554130

Foucher, G

1997-11-01

410

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

411

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

412

Intralesional bleomycin injection in management of low flow vascular malformations in children.  

PubMed

Low flow vascular malformations are challenging to manage, particularly with their propensity to grow, and can lead to severe disfigurement and dysfunction. Traditional surgical excision is fraught with tedious dissection and complications, particularly in the head and neck region. Trends toward less invasive techniques, such as intralesional sclerotherapy, are proving to be successful independent treatments or adjuncts in management in low flow vascular malformations. This study was a retrospective case note review, over an 8-year period, reporting the outcomes of 32 children (mean = 5.8 years, range = 5 months-11.5 years) with radiologically confirmed low flow vascular malformations, treated with serial intralesional bleomycin injection (IBI) therapy. Patient demographics, lesion characteristics, imaging findings, treatment course, radiological and clinical response to treatment were recorded. An overall 91% (n = 29) response rate was achieved, with 28% obtaining complete resolution for low flow vascular malformations. Lesions were sub-categorized into venous malformation, including mixed venous-capillary (n = 27) or lymphatic malformation (LM) (n = 5). Twenty-seven of 32 children experienced no complications. Local complications included superficial skin infection (n = 2), skin necrosis (n = 1), hyperpigmentation, and minor contour deformity. There was no recurrence and no systemic side-effects to bleomycin. Mean follow-up was 38 months (range = 6-95 months). In conclusion, serial intralesional bleomycin injections can be effective and also safe in a paediatric population for the successful management of symptomatic or disfiguring low flow vascular malformations. PMID:25204206

Mohan, Anita T; Adams, Saleigh; Adams, Kevin; Hudson, Donald A

2015-04-01

413

Notch-1 signalling is activated in brain arteriovenous malformations in humans  

PubMed Central

A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that, compared with control brain vascular tissue, Notch-1 signalling was activated in smooth muscle and endothelial cells of the lesional tissue. Western blotting showed an activated form of Notch-1 in brain arteriovenous malformations, irrespective of clinical presentation and with or without preoperative embolization, but not in normal cerebral vessels from controls. In addition, the Notch-1 ligands Jagged-1 and Delta-like-4 and the downstream Notch-1 target Hes-1 were increased in abundance and activated in human brain arteriovenous malformations. Finally, increased angiogenesis was found in adult rats treated with a Notch-1 activator. Our findings suggest that activation of Notch-1 signalling is a phenotypic feature of brain arteriovenous malformations, and that activation of Notch-1 in normal vasculature induces a pro-angiogenic state, which may contribute to the development of vascular malformations. PMID:19812212

ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.

2009-01-01

414

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

415

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

416

Non-integrability of the fourth Painlevé equation in the Liouville-Arnold sense  

NASA Astrophysics Data System (ADS)

In this paper we are concerned with the integrability of the fourth Painlevé equation (PIV) from the point of view of the Hamiltonian dynamics. We prove that the fourth Painlevé equation with parameters a = m, b = -2(1 + 2n + m) where m, n \\in { Z} , is not integrable in the Liouville-Arnold sense by means of meromorphic first integrals. We explicitly compute formal and analytic invariants of the second variational equations which generate topologically the differential Galois group. In this way our calculations and the Ziglin-Ramis-Morales-Ruiz-Simó method yield the non-integrability results.

Stoyanova, Tsvetana

2014-05-01

417

Hamilton-Jacobi equation, heteroclinic chains and Arnol'd diffusion in three time scales systems  

E-print Network

Interacting systems consisting of two rotators and a point mass near a hyperbolic fixed point are considered, in a case in which the uncoupled systems have three very different characteristic time scales. The abundance of quasi periodic motions in phase space is studied via the Hamilton-Jacobi equation. The main result, a high density theorem of invariant tori, is derived by the classical canonical transformation method extending previous results. As an application the existence of long heteroclinic chains (and of Arnol'd diffusion) is proved for systems interacting through a trigonometric polynomial in the angle variables.

Giovanni Gallavotti; Guido Gentile; Vieri Mastropietro

1998-01-02

418

Red blood cell malformations Cell shapes Modeling and simulation of red blood cell light scattering  

E-print Network

that have a "sickle" appearance (see figure to left). This malformed geometry prevents cells from traveling, this simulation models healthy RBCs. These shapes are quite regular, and have been studied extensively

California at Berkeley, University of

419

Giant cavernous malformations in young adults: report of two cases, radiological findings and surgical consequences.  

PubMed

Cerebral cavernous malformations, also known as cavernous angioma or cavernoma, are a type of vascular disorder. They consist of abnormally large vascular cavities or sinusoid channels of varying size. The majority of cavernous malformations in the brain are small and do not always present with symptoms. A minority of large cavernous malformations, known as giant cavernous malformations (GCM), can cause neurological symptoms (such as headaches, focal neurologic deficits and seizures), which are probably related to hemorrhage and mass effect. GCM grow steadily in size over time, due to repetitive episodes of bleeding. The purpose of this paper is to document two case reports of patients with GCM, illustrate the radiological appearance, discuss the neurosurgical consequences, and to provide a literature analysis. PMID:25597205

Parizel, M R; Menovsky, T; Van Marck, V; Lammens, M; Parizel, P M

2014-01-01

420

Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide  

EPA Science Inventory

The present study was performed to determine experimental conditions for thalidomide induction of fetal malformations and to understand the molecular mechanisms underlying thalidomide teratogenicity in cynomolgus monkeys. Cynomolgus monkeys were orally administered (±)-thalidomid...

421

Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal  

E-print Network

11/09 Clinical Features: Lissencephaly and subcortical band heterotopia (SBH) are brain malformations caused by deficient neuronal migration. Lissencephaly--"smooth brain" with absent (agyria MRI scans and give recommendations regarding genetic testing. Please contact Mary King at 773

Das, Soma

422

Ethical language and decision-making for prenatally diagnosed lethal malformations  

PubMed Central

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

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

2014-01-01

423

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

PubMed

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

Tosi, B; Maestro, S; Marcheschi, M

1995-10-01

424

Multispectral assessment of skin malformations using a modified video-microscope  

NASA Astrophysics Data System (ADS)

A simplified method is proposed for alternative clinical diagnostics of skin malformations. A modified digital microscope, additionally equipped with a fourcolour LED (450 nm, 545 nm, 660 nm and 940 nm) subsequent illumination system, was applied for assessment of skin cancerous lesions and cutaneous inflammations. Multispectral image analysis was performed to map distributions of skin erythema index, bilirubin index, melanoma/nevus differentiation parameter, and fluorescence indicator. The skin malformation monitoring has shown that it is possible to differentiate melanoma from other pathologies.

Bekina, A.; Diebele, I.; Rubins, U.; Zaharans, J.; Derjabo, A.; Spigulis, J.

2012-10-01

425

Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease  

Microsoft Academic Search

OBJECTIVES: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. PATIENTS AND METHODS: A total of 491 patients with anorectal malformations or Hirschsprung disease were sent a questionnaire, which assessed QL (mental, physical), disease-specific functioning (defecation-related), perceived

Esther E Hartman; Frans J Oort; Mirjam AG Sprangers; Marianne JG Hanneman; Heurn van L. W. E; Zacharias J. de Langen; Gerard C. Madern; Paul NMA Rieu; David C. van der Zee; Nic Looyaard; Marina van Silfhout-Bezemer; Daniel C Aronson

2008-01-01

426

Pediatric intramedullary cavernous malformation of the conus medullaris: case report and review of the literature  

Microsoft Academic Search

Cavernous malformations of the conus medullaris are rare lesions; only 9 cases have been reported in the literature. Most\\u000a cases are described in adults and only one case has been reported in pediatric age group. In this report, the authors describe\\u000a a 16-year-old male presenting with acute myelopathy due to an intramedullary cavernous malformation of the conus medullaris.\\u000a The clinical,

Mahmoud Reza Khalatbari; Mehrdokht Hamidi; Yashar Moharamzad

2011-01-01

427

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

PubMed

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

Requena, L; Sangueza, O P

1997-10-01

428

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study  

Microsoft Academic Search

Recent molecular studies have revealed that a 22q11 deletion is frequently detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). As one of the major clinical manifestations in these three syndromes is conotruncal cardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation. Fluorescence in

Kazuhiro Takahashi; Sachiko Kido; Kenji Hoshino; Kiyoshi Ogawa; Hirofumi Ohashi; Yoshimitsu Fukushima

1995-01-01

429

Transvenous Onyx embolization of a subependymal deep arteriovenous malformation with a single drainage vein: technical note  

PubMed Central

Cerebral arteriovenous malformations (AVMs) are uncommon. Treatment options include embolization, radiosurgery and surgery, separately or combined, the final goal being complete occlusion of the malformation. We describe the case of a symptomatic small subependymal AVM with a single deep drainage vein previously treated unsuccessfully by radiosurgery and transarterial embolization. The AVM was successfully embolized transvenously using Onyx, achieving complete occlusion in a single treatment session. PMID:23542648

Martínez-Galdámez, Mario; Saura, Pedro; Saura, Javier; Muñiz, Jesus; Albisua, Julio; Pérez-Higueras, Antonio

2013-01-01

430

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human  

PubMed Central

Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh) signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations in humans. Moreover, deranged Shh and BMP signaling is correlated with severe anorectal malformations in both mouse and humans. PMID:24524909

Runck, Laura A.; Method, Anna; Bischoff, Andrea; Levitt, Marc; Peña, Alberto; Collins, Margaret H.; Gupta, Anita; Shanmukhappa, Shiva; Wells, James M.; Guasch, Géraldine

2014-01-01

431

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

PubMed

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

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

2008-01-01

432

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

433

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

PubMed

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

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

2014-01-01

434

Generalized Arnold map-based optical multiple color-image encoding in gyrator transform domain  

NASA Astrophysics Data System (ADS)

A novel optical multiple color-image security system based on generalized Arnold map in gyrator transform domain is investigated. In this cryptosystem, a color image is decomposed into R, G, and B channels. Each channel is independently permutated with generalized Arnold map and then gyrator transformed. The gyrator spectrum of each channel is multiplied together to generate a single-channel encrypted image. Similarly, multiple images are processed separately to produce their respective single-channel encrypted images. After that all the single-channel encrypted images are combined to construct a single encrypted image as input information and multiplied with a random phase mask, and then phase- and amplitude-truncated to get the first encrypted image and first asymmetric key, respectively. Finally, the first encrypted image is gyrator transformed and then phase- and amplitude-truncated to obtain the final encrypted image and second asymmetric key, respectively. The individual decryption key, random phase key, asymmetric keys, transformation angles, control parameters, and initial conditions significantly enhance the security of the system and thus ensure the resistance against existing attacks. In addition, this method avoids crosstalk noise and consequently increases the multiplexing capacity. The proposed system can be implemented by using optoelectronic architecture. Numerical simulation results are presented to test the validity and security of the proposal.

Rafiq Abuturab, Muhammad

2015-05-01

435

Damage-Free Laser Printing of Organic Electronic Molecules (DMR-0819860) IRG-B: S. Bernhard and C. B. Arnold  

E-print Network

Damage-Free Laser Printing of Organic Electronic Molecules (DMR-0819860) IRG-B: S. Bernhard and C. B. Arnold Small organic electronic molecules have emerged as important competitors to traditional organic polymers for light emitting and harvesting applications. Their greater stability in air

Petta, Jason

436

CONTROL OF SOYBEAN RUST IN A DETERMINATE CULTIVAR AT THE RATTRAY ARNOLD RESEARCH STATION, ZIMBABWE, 2004-05.  

Technology Transfer Automated Retrieval System (TEKTRAN)

Fungicide trials for the management of soybean rust were done at the Rattray Arnold Research Station, Zimbabwe during the 2003-04 growing season. Soybean rust was first recorded in the plots on 10 Mar 05, at 83 DAP, between the second and third fungicide application, thus all treatments were applie...

437

Range Dependent Phase Gradient Autofocus Douglas G. Thompson, James S. Bates, David V. Arnold, David G. Long,  

E-print Network

Range Dependent Phase Gradient Autofocus Douglas G. Thompson, James S. Bates, David V. Arnold, which is valid for most SAR systems. However, lower alti- tude SA& have large range dependencies that cannot be ignored. A new phase estimator for PGA is introduced and extended to allow range dependence

Long, David G.

438

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.

439

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.

440

Curriculum Vitae Arnold Lee Swindlehurst 1991, Ph.D., Stanford University, Electrical Engineering. Thesis advisor: Prof. Thomas  

E-print Network

-President of Research, ArrayComm LLC, San Jose, CA. On per- sonal development leave from Brigham Young UniversityCurriculum Vitae ­ Arnold Lee Swindlehurst Education 1991, Ph.D., Stanford University, Electrical to Estimation and Identification." Dissertation research was in the general area of parametric estimation theory

Swindlehurst, A. Lee

441

An Immigrant's Dream and the Audacity of HopeThe 2004 Convention Addresses of Barack Obama and Arnold Schwarzenegger  

Microsoft Academic Search

Smith and Nimmo assert that contemporary political conventions orchestrate an important legitimation ritual. Asignificant part of this ritual is composed of speechmaking. The 2004 Democratic and Republican conventions had a few notable speech moments. Specifically, the speeches by Illinois State Senator Barack Obama and California Governor Arnold Schwarzenegger garnered attention for both them and their party leaders. Along with the

Babak Elahi; Grant Cos

2005-01-01

442

The Multiparticle Quantum Arnol'd Cat: a test case for the decoherence approach to quantum chaos  

E-print Network

A multi-particle extension of the Arnol'd Cat Hamiltonian system is defined and examined. We propose to compute its Alicki-Fannes quantum dynamical entropy, to validate (or disprove) the validity of the decoherence approach to quantum chaos. A first set of numerical experiments is presented and discussed.

Giorgio Mantica

2010-07-06

443

An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis  

PubMed Central

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

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

2014-01-01

444

[Health assessment of newborns with congenital urinary malformation].  

PubMed

Improvement in diagnosis of prenatal congenital urinary malformations (CUM) resulted in increased detection of CUM cases among newborns. To facilitate medical care for CUM newborns, we have developed an objective method of CUM newborns' health assessment. We studied 40 case histories of newborns with prenatally detected CUM admitted to urological clinics (20 with diagnosis of poor health and 20 with moderate condition severity) and 40 CUM newborns examined outpatiently (moderate health hazard). The computer analysis of the available data has established 13 most informative diagnostic criteria: 4 sonographic criteria, 3 lab criteria and 6 physical exam criteria estimated by 4 points - from 0 to 4. The criteria were pooled to a table which was used as a scale to assess general health condition. After delivery, CUM newborn gets inpatient health assessment by a neonatologist using 13 criteria. According to the total score, the condition is assessed as satisfactory (0-5), moderately severe (6-11), severe ( > 12). Efficacy of such health assessment was proved in a population study of 312 prenatal CUM newborns. Grouping of such newborns helps design of programs of further examination and management. PMID:21874668

Iushko, E I; Strotski?, A V; Dubrov, V I; Tkachenko, A K

2011-01-01

445

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

Porter, Forbes D.; Herman, Gail E.

2011-01-01

446

Endovascular and microsurgical treatment of cerebral arteriovenous malformations: Current recommendations  

PubMed Central

Background: Cerebral arteriovenous malformations (AVMs) can be a heterogeneous pathological entity whose management requires a complex decision-making process due to the risks associated with their treatment and natural history. Despite the recently published conclusions of the aborted Randomized Trial of Brain Unruptured AVMs (ARUBA) trial, the authors of this article believe multimodality intervention in general and microsurgical resection in particular continue to play a major role in the management of carefully selected ruptured or unruptured AVMs. Methods: The authors provide an overview of their methodology for endovascular intervention and microsurgical resection and share their technical nuances for successful embolization and microsurgical resection of AVMs with special emphasis on complication avoidance. Results: The authors have achieved successful outcomes in embolization and resection of cerebral AVMs when using their methodology. Conclusions: These lesions are among the most technically difficult pathological entities handled by the cerebrovascular specialist, and an overview of technical concepts to help systematize this challenging and variable endeavor can improve the safety of their treatment.

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

2015-01-01

447

Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

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

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

1996-03-29

448

Neocortical malformation as consequence of nonadaptive regulation of neuronogenetic sequence  

NASA Technical Reports Server (NTRS)

Variations in the structure of the neocortex induced by single gene mutations may be extreme or subtle. They differ from variations in neocortical structure encountered across and within species in that these "normal" structural variations are adaptive (both structurally and behaviorally), whereas those associated with disorders of development are not. Here we propose that they also differ in principle in that they represent disruptions of molecular mechanisms that are not normally regulatory to variations in the histogenetic sequence. We propose an algorithm for the operation of the neuronogenetic sequence in relation to the overall neocortical histogenetic sequence and highlight the restriction point of the G1 phase of the cell cycle as the master regulatory control point for normal coordinate structural variation across species and importantly within species. From considerations based on the anatomic evidence from neocortical malformation in humans, we illustrate in principle how this overall sequence appears to be disrupted by molecular biological linkages operating principally outside the control mechanisms responsible for the normal structural variation of the neocortex. MRDD Research Reviews 6:22-33, 2000. Copyright 2000 Wiley-Liss, Inc.

Caviness, V. S. Jr; Takahashi, T.; Nowakowski, R. S.

2000-01-01

449

Perceptual enhancement of arteriovenous malformation in MRI angiography displays  

NASA Astrophysics Data System (ADS)

The importance of presenting medical images in an intuitive and usable manner during a procedure is essential. However, most medical visualization interfaces, particularly those designed for minimally-invasive surgery, suffer from a number of issues as a consequence of disregarding the human perceptual, cognitive, and motor system's limitations. This matter is even more prominent when human visual system is overlooked during the design cycle. One example is the visualization of the neuro-vascular structures in MR angiography (MRA) images. This study investigates perceptual performance in the usability of a display to visualize blood vessels in MRA volumes using a contour enhancement technique. Our results show that when contours are enhanced, our participants, in general, can perform faster with higher level of accuracy when judging the connectivity of different vessels. One clinical outcome of such perceptual enhancement is improvement of spatial reasoning needed for planning complex neuro-vascular operations such as treating Arteriovenous Malformations (AVMs). The success of an AVM intervention greatly depends on fully understanding the anatomy of vascular structures. However, poor visualization of pre-operative MRA images makes the planning of such a treatment quite challenging.

Abhari, Kamyar; Baxter, John S. H.; Eagleson, Roy; Peters, Terry; de Ribaupierre, Sandrine

2012-02-01

450

Heavy-charged-particle radiosurgery for intracranial arteriovenous malformations.  

PubMed

We have treated over 400 patients with symptomatic inoperable intracranial arteriovenous malformations (AVMs) with stereotactic heavy-charged-particle Bragg peak radiosurgery at the University of California at Berkeley in a collaborative program with Stanford University Medical Center and the University of California Medical Center, San Francisco. A long-term dose-searching clinical trial protocol has been developed and we have followed more than 250 patients for more than 2 years. Initially, radiation doses ranged from 45 to 35 GyE, and now doses of 25, 20, 15 and, under special circumstances, 10 GyE, depending on a number of factors, are being evaluated. The characteristics of charged-particle beams provide a relatively homogeneous dose distribution with the 90% isodose contour to the periphery of the lesion. When the entire arterial phase of the AVM core is included in the treatment field, the rates for complete obliteration 3 years after treatment are: 90-95% for volumes less than or equal to 4 cm3; 90-95% for volumes greater than 4 and less than or equal to 14 cm3; and 60-70% for volumes greater than 14 cm3. The total obliteration rate for all volumes up to 70 cm3 is approximately 80-85%. For complete radiation-induced obliteration there is a relationship of dose and volume primarily, and location secondarily. Results on relationships between dose, AVM obliteration, and complications and sequelae of the radiosurgical procedure are presented and discussed. PMID:1808655

Fabrikant, J I; Levy, R P; Steinberg, G K; Silverberg, G D; Frankel, K A; Phillips, M H; Lyman, J T

1991-01-01

451

Control of epilepsy associated with cerebral arteriovenous malformations after radiosurgery  

PubMed Central

OBJECTIVE—To investigate the effect of radiosurgery for symptomatic epilepsy associated with cerebral arteriovenous malformations (AVMs).?METHODS— Thirty five patients with unruptured epileptogenic AVMs were studied with a mean follow up of 43.0 months. The duration of epilepsy before radiosurgery ranged from 2 months to 21 years (mean 2.8 years). Fifteen patients showed partial seizures; eight of these had associated secondary generalisation. The remaining 20 patients showed only generalised seizures without preceding focal seizures.?RESULTS—At the final follow up examination, 28 patients remained seizure free, whereas seizures continued in seven. Variables significantly associated with continuity of seizures after radiosurgery were the number of seizures before therapy (p<0.01) and duration of epilepsy (p<0.05). According to Engel's classification, the 10patients with intractable seizures before treatment included five with grade I, four with grade III, and one with grade IV. The frequency of seizures began to decrease several months after radiosurgery; much shorter than the time required for morphological change in the AVMs.?CONCLUSIONS—Radiosurgery seems to be beneficial for seizure control in patients with unruptured epileptogenic AVM.?? PMID:9810932

Kurita, H.; Kawamoto, S.; Suzuki, I.; Sasaki, T.; Tago, M.; Terahara, A.; Kirino, T.

1998-01-01

452

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination  

PubMed Central

We describe a novel spontaneous mouse mutant, laggard (lag), characterized by a flat head, motor impairment and growth retardation. The mutation is inherited as an autosomal recessive trait, and lag/lag mice suffer from cerebellar ataxia and die before weaning. lag/lag mice exhibit a dramatic reduction in brain size and slender optic nerves. By positional cloning, we identify a splice site mutation in Kif14. Transgenic complementation with wild-type Kif14-cDNA alleviates ataxic phenotype in lag/lag mice. To further confirm that the causative gene is Kif14, we generate Kif14 knockout mice and find that all of the phenotypes of Kif14 knockout mice are similar to those of lag/lag mice. The main morphological abnormality of lag/lag mouse is severe hypomyelination in central nervous system. The lag/lag mice express an array of myelin-related genes at significantly reduced levels. The disrupted cytoarchitecture of the cerebellar and cerebral cortices appears to result from apoptotic cell death. Thus, we conclude that Kif14 is essential for the generation and maturation of late-developing structures such as the myelin sheath, cerebellar and cerebral cortices. So far, no Kif14-deficient mice or mutation in Kif14 has ever been reported and we firstly define the biological function of Kif14 in vivo. The discovery of mammalian models, laggard, has opened up horizons for researchers to add more knowledge regarding the etiology and pathology of brain malformation. PMID:23308235

Fujikura, Kohei; Setsu, Tomiyoshi; Tanigaki, Kenji; Abe, Takaya; Kiyonari, Hiroshi; Terashima, Toshio; Sakisaka, Toshiaki

2013-01-01

453

Gastric foregut cystic developmental malformation: Case series and literature review  

PubMed Central

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

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

2015-01-01

454

Endovascular Management of Arteriovenous Malformations of the Brain  

PubMed Central

Arteriovenous malformations (AVMs) of the brain are rare, complex, vascular lesions that can result in significant morbidity and mortality. Modern treatment of brain AVMs is a multimodality endeavor, requiring a multidisciplinary team with expertise in cerebrovascular neurosurgery, endovascular intervention, and radiation therapy in order to provide all therapeutic options and determine the most appropriate treatment regimen depending on patient characteristics and AVM morphology. Current therapeutic options include microsurgical resection, radiosurgery (focused radiation), and endovascular embolization. Endovascular embolization is primarily used as a preoperative adjuvant before microsurgery or radiosurgery. Palliative embolization has been used successfully to reduce the risk of hemorrhage, alleviate clinical symptoms, and preserve or improve neurological function in inoperable or nonradiosurgical AVMs. Less frequently, embolization is used as ‘primary therapy’ particularly for smaller, surgically difficult lesions. Current embolic agents used to treat brain AVMs include both solid and liquid agents. Liquid agents including N-butyl cyanoacrylate and Onyx are the most commonly used agents. As newer embolic agents become available and as microcatheter technology improves, the role of endovascular treatment for brain AVMs will likely expand. PMID:25187772

Bruno, Charles A.; Meyers, Philip M.

2013-01-01

455

Discovery of familial cerebral cavernous malformation in a Saudi population.  

PubMed

Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1/CCM1 might be the possible target gene that is mutated in this region. PMID:24265337

Nahrir, Shahpar; Al-Hameed, Majed H; Al-Sinaidi, Omar A; Al Shakweer, Wafa

2013-01-01

456

Somatic activation of AKT3 causes hemispheric developmental brain malformations.  

PubMed

Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G?A, creating p.E17K) that was not present in the patient's blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralog in the brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to the brain could represent an important cause of complex neurogenetic disease. PMID:22500628

Poduri, Annapurna; Evrony, Gilad D; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K; Hills, L Benjamin; Heinzen, Erin L; Hill, Anthony; Hill, R Sean; Barry, Brenda J; Bourgeois, Blaise F D; Riviello, James J; Barkovich, A James; Black, Peter M; Ligon, Keith L; Walsh, Christopher A

2012-04-12

457

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations  

PubMed Central

Summary Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that 2/8 HMG samples showed trisomy of chromosome 1q, encompassing many genes, including AKT3, which is known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G?A, creating p.E17K) that was not present in the patient’s blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralogue in brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to brain could represent an important cause of complex neurogenetic disease. PMID:22500628

Poduri, Annapurna; Evrony, Gilad D.; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K.; Hills, L. Benjamin; Heinzen, Erin L.; Hill, Anthony; Hill, R. Sean; Barry, Brenda J.; Bourgeois, Blaise F.D.; Riviello, James J.; Barkovich, A. James; Black, Peter M.; Ligon, Keith L.; Walsh, Christopher A.

2012-01-01

458

Midbrain–hindbrain malformations in patients with malformations of cortical development and epilepsy: A series of 220 patients  

PubMed Central

Summary Midbrain–hindbrain malformations (MHM) may coexist with malformations of cortical development (MCD). This study represents a first attempt to investigate the spectrum of MHM in a large series of patients with MCD and epilepsy. We aimed to explore specific associations between MCD and MHM and to compare two groups of patients: MCD with MHM (wMHM) and MCD without MHM (w/oMHM) with regard to clinical and imaging features. Two hundred and twenty patients (116 women/104 men, median age 28 years, interquartile range 20–44 years at the time of assessment) with MCD and epilepsy were identified at the Departments of Neurology and Pediatrics, Innsbruck Medical University, Austria. All underwent high-resolution MRIs (1.5-T) between 01.01.2002 and 31.12.2011. Midbrain–hindbrain structures were visually assessed by three independent raters. MHM were seen in 17% (38/220) of patients. The rate of patients wMHM and w/oMHM differed significantly (p = 0.004) in three categories of MCD (category I – to abnormal neuronal proliferation; category II – to abnormal neuronal migration; and category III – due to abnormal neuronal late migration/organization): MCD due to abnormal neuronal migration (31%) and organization (23%) were more commonly associated with MHM compared to those with MCD due to abnormal neuronal proliferation (9%). Extensive bilateral MCD were seen more often in patients wMHM compared to those w/oMHM (63% vs. 36%; p = 0.004). In wMHM group compared to w/oMHM group there were higher rates of callosal dysgenesis (26% vs. 4%; p < 0.001) and hippocampal abnormalities (52% vs. 27%; p < 0.001). Patients wMHM were younger (median 25 years vs. 30 years; p = 0.010) at the time of assessment and had seizure onset at an earlier age (median 5 years vs. 12 years; p = 0.043) compared to those w/oMHM. Patients wMHM had higher rates of learning disability (71% vs. 38%; p < 0.001), delayed developmental milestones (68% vs. 35%; p < 0.001) and neurological deficits (66% vs. 47%; p = 0.049) compared to those w/oMHM. The groups (wMHM and w/oMHM) did not differ in their response to antiepileptic treatment, seizure outcome, seizure types, EEG abnormalities and rate of status epilepticus. Presence of MHM in patients with MCD and epilepsy is associated with severe morphological and clinical phenotypes. PMID:23810707

Kuchukhidze, Giorgi; Koppelstaetter, Florian; Unterberger, Iris; Dobesberger, Judith; Walser, Gerald; Höfler, Julia; Zamarian, Laura; Haberlandt, Edda; Rostasy, Kevin; Ortler, Martin; Czech, Thomas; Feucht, Martha; Bauer, Gerhard; Delazer, Margarete; Felber, Stephan; Trinka, Eugen

2013-01-01

459

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

PubMed

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

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

2015-02-01

460

Parasite (Ribeiroia ondatrae) infection linked to amphibian malformations in the western United States  

USGS Publications Warehouse

Parasites and pathogens can influence the survivorship, behavior, and very structure of their host species. For example, experimental studies have shown that trematode parasites can cause high frequencies of severe limb malformations in amphibians. In a broad-scale field survey covering parts of California, Oregon, Washington, Idaho, and Montana, we examined relationships between the frequency and types of morphological abnormalities in amphibians and the abundance of trematode parasite infection, pH, concentrations of 61 pesticides, and levels of orthophosphate and total nitrate. We recorded severe malformations at frequencies ranging from 1% to 90% in nine amphibian species from 53 aquatic systems. Infection of larvae by the trematode Ribeiroia ondatrae was associated with, and functionally related to, higher frequencies of amphibian limb malformations than found in uninfected populations (???5%). Parasites were concentrated around the basal tissue of hind limbs in infected anurans, and malformations associated with infection included skin webbings, supernumerary limbs and digits, and missing or malformed hind limbs. In the absence of Ribeiroia, amphibian populations exhibited low (0-5%) frequencies of abnormalities involving missing digits or distal portions of a hind limb. Species were affected differentially by the parasite, and Ambystoma macrodactylum, Hyla regilla, Rand aurora, R. luteiventris, and Taricha torosa typically exhibited the highest frequencies of abnormalities. None of the water-quality variables measured was associated with malformed amphibians, but aquatic snail hosts (Planorbella spp.) were significant predictors of the presence and abundance of Ribeiroia infection. Morphological comparisons of adult specimens of Ribeiroia collected from different sites and raised in experimental definitive hosts suggested that all samples represented the same species - R. ondatrae. These field results, coupled with experimental research on the effects of Ribeiroia on amphibians, demonstrate that Ribeiroia infection is an important and widespread cause of amphibian limb malformations in the western United States. The relevance of trematode infection to declines of amphibian populations and the influence of habitat modification on the pathology and life cycle of Ribeiroia are emphasized as areas requiring further research.

Johnson, P.T.J.; Lunde, K.B.; Thurman, E.M.; Ritchie, E.G.; Wray, S.N.; Sutherland, D.R.; Kapfer, J.M.; Frest, T.J.; Bowerman, J.; Blaustein, A.R.

2002-01-01

461

Unusual leg malformations in screech owls from a South Carolina Superfund site  

USGS Publications Warehouse

In 1995, the discovery of leg malformations in several screech owl (Otis asio) nestlings and in their female parent at a Department of Energy (DOE) Superfund site in South Carolina prompted an investigation into the nature of the observed abnormalities. Surviving nestlings and the female parent were transferred to a captive screech owl breeding colony at the USGS Patuxent Wildlife Research Center, Laurel, MD. The malformed female parent and her offspring were each mated with normal owls from the colony for 3 yr. Matings of the malformed female produced five malformed and six normal owls; all owls produced by matings of normal offspring were normal. Malformed offspring were euthanized when it became apparent that their physical distress precluded survival under normal conditions of colony care. Euthanized owls were necropsied and examined for skeletal development. Detailed descriptions of eight malformed owls are presented. Results of the matings indicated that the leg malformations were caused by a genetic trait in the female parent that was heterozygous dominant. The characteristic was lethal except in occasional mild manifestations and resembled an extreme form of a dominant abnormality previously described for domestic fowl called duplicate polydactyly. Other reports of skeletal abnormalities in wild birds and potential environmental causes of genetic mutations at the DOE Super-fund site are presented. Other studies performed at the DOE Superfund site do not implicate elevated (above background) ionizing radiation from '37Cs, the dominant radio-nuclide where the owls were captured, as the cause of the mutation. The cause of this genetic abnormality remains unknown.

Albers, P.H.; Hoffman, D.J.; Brisbin, I.L., Jr.

2001-01-01

462

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

PubMed Central

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

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

2014-01-01

463

Human gene copy number spectra analysis in congenital heart malformations  

PubMed Central

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency “spectra” to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (?200 kb) and losses (?100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ? 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ? 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

Mahnke, Donna K.; Struble, Craig A.; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A.; Simpson, Pippa M.; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

2012-01-01

464

Aberrant Lymphatic Endothelial Progenitors in Lymphatic Malformation Development  

PubMed Central

Lymphatic malformations (LMs) are vascular anomalies thought to arise from dysregulated lymphangiogenesis. These lesions impose a significant burden of disease on affected individuals. LM pathobiology is poorly understood, hindering the development of effective treatments. In the present studies, immunostaining of LM tissues revealed that endothelial cells lining aberrant lymphatic vessels and cells in the surrounding stroma expressed the stem cell marker, CD133, and the lymphatic endothelial protein, podoplanin. Isolated patient-derived CD133+ LM cells expressed stem cell genes (NANOG, Oct4), circulating endothelial cell precursor proteins (CD90, CD146, c-Kit, VEGFR-2), and lymphatic endothelial proteins (podoplanin, VEGFR-3). Consistent with a progenitor cell identity, CD133+ LM cells were multipotent and could be differentiated into fat, bone, smooth muscle, and lymphatic endothelial cells in vitro. CD133+ cells were compared to CD133? cells isolated from LM fluids. CD133? LM cells had lower expression of stem cell genes, but expressed circulating endothelial precursor proteins and high levels of lymphatic endothelial proteins, VE-cadherin, CD31, podoplanin, VEGFR-3 and Prox1. CD133? LM cells were not multipotent, consistent with a differentiated lymphatic endothelial cell phenotype. In a mouse xenograft model, CD133+ LM cells differentiated into lymphatic endothelial cells that formed irregularly dilated lymphatic channels, phenocopying human LMs. In vivo, CD133+ LM cells acquired expression of differentiated lymphatic endothelial cell proteins, podoplanin, LYVE1, Prox1, and VEGFR-3, comparable to expression found in LM patient tissues. Taken together, these data identify a novel LM progenitor cell population that differentiates to form the abnormal lymphatic structures characteristic of these lesions, recapitulating the human LM phenotype. This LM progenitor cell population may contribute to the clinically refractory behavior of LMs. PMID:25719418

Wu, June K.; Kitajewski, Christopher; Reiley, Maia; Keung, Connie H.; Monteagudo, Julie; Andrews, John P.; Liou, Peter; Thirumoorthi, Arul; Wong, Alvin

2015-01-01

465

Enrichment and Training Improve Cognition in Rats with Cortical Malformations  

PubMed Central

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

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

2013-01-01

466

Human brain arteriovenous malformations express lymphatic-associated genes  

PubMed Central

Objective Brain arteriovenous malformations (AVMs) are devastating, hemorrhage-prone, cerebrovascular lesions characterized by well-defined feeding arteries, draining vein(s) and the absence of a capillary bed. The endothelial cells (ECs) that comprise AVMs exhibit a loss of arterial and venous specification. Given the role of the transcription factor COUP-TFII in vascular development, EC specification, and pathological angiogenesis, we examined human AVM tissue to determine if COUP-FTII may have a role in AVM disease biology. Methods We examined 40 human brain AVMs by immunohistochemistry (IHC) and qRT-PCR for the expression of COUP-TFII as well as other genes involved in venous and lymphatic development, maintenance, and signaling. We also examined proliferation and EC tube formation with human umbilical ECs (HUVEC) following COUP-TFII overexpression. Results We report that AVMs expressed COUP-TFII, SOX18, PROX1, NFATC1, FOXC2, TBX1, LYVE1, Podoplanin, and vascular endothelial growth factor (VEGF)-C, contained Ki67-positive cells and heterogeneously expressed genes involved in Hedgehog, Notch, Wnt, and VEGF signaling pathways. Overexpression of COUP-TFII alone in vitro resulted in increased EC proliferation and dilated tubes in an EC tube formation assay in HUVEC. Interpretation This suggests AVM ECs are further losing their arterial/venous specificity and acquiring a partial lymphatic molecular phenotype. There was significant correlation of gene expression with presence of clinical edema and acute hemorrhage. While the precise role of these genes in the formation, stabilization, growth and risk of hemorrhage of AVMs remains unclear, these findings have potentially important implications for patient management and treatment choice, and opens new avenues for future work on AVM disease mechanisms. PMID:25574473

Shoemaker, Lorelei D; Fuentes, Laurel F; Santiago, Shauna M; Allen, Breanna M; Cook, Douglas J; Steinberg, Gary K; Chang, Steven D

2014-01-01

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Epileptogenic temporal cavernous malformations: operative strategies and postoperative seizure outcomes.  

PubMed

Operative treatment of epileptogenic cavernous malformations (CM) continues under debate. Most studies focus on surgery for supratentorial CM in general. For temporal lobe CM, surgical decision-making concerns in particular whether to perform lesionectomy alone or the additional excision of mesial temporal structures. The purpose of thi