Sample records for arnold chiari malformation

  1. Acute porphyria in a patient with Arnold Chiari malformation.

    PubMed

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

    2015-02-20

    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. 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. 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.

  2. Arnold-Chiari malformation and nystagmus of skew

    PubMed Central

    Pieh, C.; Gottlob, I.

    2000-01-01

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

 PMID:10864619

  3. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

    PubMed

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-05-01

    SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.

  4. [Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

    PubMed

    Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

    2016-01-01

    Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

  5. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    PubMed Central

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

    2016-01-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

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

    ERIC Educational Resources Information Center

    Mittler, Joel E.

    1986-01-01

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

  7. Orofacial clinical features in Arnold Chiari type I malformation: A case series.

    PubMed

    de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

    2018-04-01

    Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

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

    PubMed Central

    Tieppo Francio, Vinicius

    2014-01-01

    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

  9. Chiari Malformation

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Chiari Malformation KidsHealth / For Parents / Chiari Malformation What's in this ... balance problems, and other symptoms. What Is a Chiari Malformation? Normally, the cerebellum sits at the back of ...

  10. Not all cases of nyctalopia are benign: Unusual and serendipitous presentation of Arnold-Chiari Type 1 malformation at a Pediatric Tertiary Care Center.

    PubMed

    Patra, Kailash Chandra; Kirtane, Abhijeet Prakash

    2016-01-01

    The Arnold-Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities. Papilledema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To underscore this noteworthy complication, the authors report a case of an 8-year-old boy who presented with nyctalopia and suboccipital headaches, but was diagnosed serendipitously as a case of papilledema due to Chiari I malformation.

  11. Management of parturients in active labor with Arnold Chiari malformation, tonsillar herniation, and syringomyelia

    PubMed Central

    Ghaly, Ramsis F.; Tverdohleb, Tatiana; Candido, Kenneth D.; Knezevic, Nebojsa Nick

    2017-01-01

    Background: Arnold-Chiari malformation Type 1 (ACM-1) in parturients is a topic of ongoing discussion between obstetricians and anesthesiologists. The primary unanswered question remains; How should the anesthesia provider proceed with labor analgesia and anesthesia for cesarean section when confronted with an advanced, asymptomatic, or minimally symptomatic case of ACM-1 during labor? Case Description: A 24-year-old, ASA II, G1P0 full-term parturient presented to Labor and Delivery for vaginal delivery. A diagnosis of ACM-1 was made 12 years ago when a brain magnetic resonance imaging (MRI) was performed for right-sided numbness following a rear-end motor vehicle collision. The patient had been asymptomatic since then and had been seen by an outside neurologist frequently for the past 10 years. During the anesthesia evaluation, it was noted that she had an exaggerated patellar reflex, and a questionable left-sided Babinski; subsequently, an MRI study was requested. Review of a brain MRI demonstrated an advanced form of ACM with a 1.7 cm transtonsillar herniation and a large syrinx extending from C1 down to C5. Following a discussion with the patient, family, and primary OB team, a plan for elective cesarean section was made per neurosurgical recommendations. This was conducted uneventfully under general anesthesia. The patient had no complaints in the post-anesthesia care unit. Conclusion: Unfamiliarity of health care providers with regards to ACM-1 parturients can be countered by increasing awareness of this condition throughout medical specialties involved in their care. The Ghaly Obstetric Guide to Arnold-Chiari malformation Type 1, along with proper training of anesthesia care providers regarding the specificities of ACM-1 parturients aids in better management and understanding of this complex condition. PMID:28217389

  12. Management of parturients in active labor with Arnold Chiari malformation, tonsillar herniation, and syringomyelia.

    PubMed

    Ghaly, Ramsis F; Tverdohleb, Tatiana; Candido, Kenneth D; Knezevic, Nebojsa Nick

    2017-01-01

    Arnold-Chiari malformation Type 1 (ACM-1) in parturients is a topic of ongoing discussion between obstetricians and anesthesiologists. The primary unanswered question remains; How should the anesthesia provider proceed with labor analgesia and anesthesia for cesarean section when confronted with an advanced, asymptomatic, or minimally symptomatic case of ACM-1 during labor? A 24-year-old, ASA II, G1P0 full-term parturient presented to Labor and Delivery for vaginal delivery. A diagnosis of ACM-1 was made 12 years ago when a brain magnetic resonance imaging (MRI) was performed for right-sided numbness following a rear-end motor vehicle collision. The patient had been asymptomatic since then and had been seen by an outside neurologist frequently for the past 10 years. During the anesthesia evaluation, it was noted that she had an exaggerated patellar reflex, and a questionable left-sided Babinski; subsequently, an MRI study was requested. Review of a brain MRI demonstrated an advanced form of ACM with a 1.7 cm transtonsillar herniation and a large syrinx extending from C1 down to C5. Following a discussion with the patient, family, and primary OB team, a plan for elective cesarean section was made per neurosurgical recommendations. This was conducted uneventfully under general anesthesia. The patient had no complaints in the post-anesthesia care unit. Unfamiliarity of health care providers with regards to ACM-1 parturients can be countered by increasing awareness of this condition throughout medical specialties involved in their care. The Ghaly Obstetric Guide to Arnold-Chiari malformation Type 1, along with proper training of anesthesia care providers regarding the specificities of ACM-1 parturients aids in better management and understanding of this complex condition.

  13. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation.

    PubMed

    Moore, Hannah E; Moore, Kevin R

    2014-11-01

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords "Chiari" and "Chiari 1" to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation

  14. Sleep disturbance: a forgotten syndrome in patients with Chiari I malformation.

    PubMed

    Ferré Masó, A; Poca, M A; de la Calzada, M D; Solana, E; Romero Tomás, O; Sahuquillo, J

    2014-06-01

    Chiari type I malformation (CM-I) is characterised by caudal ectopia of the cerebellar tonsils through the foramen magnum. This is associated with brain stem, high spinal cord, and cranial nerve compression phenomena. The most frequent symptoms are occipital headaches and dizziness. Less well-known symptoms are sleep disorders and nocturnal respiratory abnormalities. MEDLINE and information from patients evaluated at the Neurosurgery and Clinical Neurophysiology Departments at Hospital Universitario Vall d'Hebron. Review article based on data obtained from MEDLINE articles since 1966, using combinations of the following keywords: «Chiari malformation» or «Arnold-Chiari malformation» and «sleep apnea» or «sleep disorders». CM-I patients show a higher prevalence of sleep disorders than that observed in the general population. Some studies report a 50% prevalence of sleep apnea-hypopnea syndrome (SAHS), probably associated with sudden death in some cases. These results support analysing sleep respiratory parameters in theses patients. Identifying SAHS symptoms may help optimise treatment, thereby improving quality of life and prognosis. Copyright © 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  15. Headache in children with Chiari I malformation.

    PubMed

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (<5 mm, N = 12), mild (5-9 mm, N = 27), and severe tonsillar ectopia (≥10 mm, N = 6), respectively. Twenty-four out of 33 (73%) cases with Chiari 1 malformation complained of headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  16. Unusual Association: Cerebral Arteriovenous Malformation and Chiari Type I Malformation.

    PubMed

    Ogul, Hayri; Kantarci, Mecit

    2017-06-01

    Cerebral arteriovenous malformation (AVM) is a common type of cerebral vascular malformation. The imaging findings are enlarged vessels, thrombosed sinuses, and hemorrhage or gliosis on adjacent brain parenchyma. Magnetic resonance (MR) imaging can be used safely for diagnosis. Chiari type I malformation is characterized by a caudal descent of the cerebellar tonsil. Coincidence of cerebral AVM and Chiari type I malformation is very rare. In this paper, the authors report MR imaging findings of a patient with coincidence of cerebral AVM and Chiari type I malformation.

  17. Neuro-ophthalmology of type 1 Chiari malformation

    PubMed Central

    Shaikh, Aasef G.; Ghasia, Fatema F.

    2016-01-01

    Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits. PMID:26843890

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

    PubMed

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

    2010-02-01

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

  19. Chiari I Malformation in Nephropathic Cystinosis

    PubMed Central

    Rao, Kavya I; Hesselink, John; Trauner, Doris A

    2015-01-01

    Objective To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. Study design Magnetic resonance imaging (MRI) scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. Results Ten of 53 (18.9%) cystinosis patients had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. Conclusions Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and MRI scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms. PMID:26265281

  20. Psychosis risk syndrome comorbid with panic attack disorder in a cannabis-abusing patient affected by Arnold-Chiari malformation type I.

    PubMed

    Del Casale, Antonio; Serata, Daniele; Rapinesi, Chiara; Simonetti, Alessio; Tamorri, Stefano Maria; Comparelli, Anna; De Carolis, Antonella; Savoja, Valeria; Kotzalidis, Georgios D; Sani, Gabriele; Tatarelli, Roberto; Girardi, Paolo

    2012-01-01

    An 18-year-old man with Arnold-Chiari malformation (ACM) type I developed sudden panic attacks. He also manifested sleep disorder, cannabis abuse, and psychosis-risk syndrome (PRS). Although with average-superior intelligence, he had executive dysfunction. This prompted us to explore the relation between ACM, cannabis abuse, PRS and panic disorder. We report the case and briefly review the literature focusing on ACM and psychiatric disorders. Behavior therapy led to gradual abstinence from cannabis with disappearance of anxiety symptoms. The patient is currently well and maintained on omega-3 polyunsaturated fatty acids. Locus coeruleus compression and cannabis abuse may have triggered the symptoms, and the latter might also be PRS-related. PRS and anxiety symptoms should be explored in ACM patients to allow better prevention of psychosis and anxiety disorders. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Papilloedema due to Chiari I malformation

    PubMed Central

    Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

    2011-01-01

    The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation. PMID:22675036

  2. Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation.

    PubMed

    Hüsler, Margaret R; Danzer, Enrico; Johnson, Mark P; Bebbington, Michael; Sutton, Leslie; Adzick, N Scott; Wilson, R Douglas

    2009-11-01

    To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II). This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed. Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal defect (OEIS complex). For the total cohort, impaired lower extremity function was seen in 38%, impaired bladder function in 64%, and ventriculoperitoneal shunting in 8%. Four fetuses with a myelocystocele developed hindbrain herniation in the third trimester of pregnancy. The preterm delivery rate was 38%. Five of eight (63%) neonates with postnatally diagnosed myelocystoceles had mothers with a body mass index over 30. Prenatal differentiation between closed and open NTD is not always possible. Postnatal outcome of isolated myelocystocele and MMC seems to be more favorable than for an NTD with ACM II (shunt requirement). Incontinence is the major childhood morbidity. Maternal obesity may be a risk factor for closed NTDs.

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

    PubMed

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

    2014-04-15

    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. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. The Chiari 3 Malformation and a Systemic Review of the Literature.

    PubMed

    Young, Richard M; Shafa, Justin S; Myseros, John S

    2015-01-01

    Chiari type 3 is a rare hindbrain malformation that has been reported in the literature primarily as case reports and case series. Radiological, pathophysiological and surgical definitions of the malformation are inconsistent in the literature and subsequently can be confusing, and outcomes have also been uniformly poor. The definition of this rare malformation will be clarified through a case presentation. A retrospective review of prior publications in the PubMed and MEDLINE databases was performed looking for reports of 'Chiari 3 +/- malformation' and 'occipital encephalocele'. Relevant papers were reviewed and compiled into table format with associated descriptions of a Chiari type 3 malformation. A case illustration is presented with radiological and intraoperative imaging to reinforce and clarify the definition. Upon review of the prior publications in the detail of the descriptions and imaging associated with each article, there is a wide range of variability in the description of what is considered a Chiari 3 malformation. Occipital, occipitocervical and high cervical defects have all been described as Chiari 3 malformation. Our case illustration presents a patient with an occipitocervical encephalocele with neural elements, which is the classic and accepted definition of the Chiari 3 malformation. Chiari type 3 is a rare congenital malformation, and prior publications describing this developmental disorder have not demonstrated a consensus in its definition. In addition, outcomes have traditionally been reported as poor. This case illustration of a Chiari type 3 enforces the definition of an occipitocervical encephalocele with hindbrain herniation, and with proper management not all Chiari 3 malformation patients have bad outcomes. © 2015 S. Karger AG, Basel.

  5. Familial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature.

    PubMed

    Nagy, Laszlo; Mobley, James; Ray, Coby

    2016-01-01

    This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the transmission of Chiari malformation. The family reported in this study also has a significant incidence of Ehlers-Danlos. Three sisters, including a set of twins, presented with confirmed cases of Chiari malformation and four of the five children of the twin sisters presented with confirmed or suspected Chiari malformation. Of note, the non-twin sister has three children who are unaffected. This report provides further evidence for a shared loci between the Chiari malformation and Ehlers-Danlos.

  6. Chiari III malformation: a comprehensive review of this enigmatic anomaly.

    PubMed

    Ivashchuk, Galyna; Loukas, Marios; Blount, Jeffrey P; Tubbs, R Shane; Oakes, W Jerry

    2015-11-01

    Chiari III is one of the rarest of the Chiari malformations and is characterized by a high cervical or low occipital encephalocele and osseous defect with or without spinal cord involvement and may include many of the anatomical characteristics seen in the Chiari II malformation. Herein, we provide a comprehensive review of this rare anomaly as well as a translation of Chiari's original description. We review all reported cases of Chiari III malformation found in the extant literature. Out of 57 reported cases of Chiari III malformation, encephaloceles were in a high cervical/low occipital position in 23, 8 were in a high cervical position, 17 were in low occipital position, and the position in 9 cases was not reported. The pathogenesis of Chiari III malformation remains unclear. The majority of patients have concomitant hydrocephalus. Brain parts occurring in the sac from the most to least common include the following: cerebellum, occipital lobe, and parietal lobe. The severity of symptoms is correlated with the amount of brain structures within the encephalocele. Neurologic functional outcomes have been varied and depend on the neurological status of the patient before surgery.

  7. Type I Chiari malformation presenting central sleep apnea.

    PubMed

    Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

    2014-04-01

    Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  8. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

    PubMed Central

    2013-01-01

    Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia. PMID:23432975

  9. Association of Chiari malformation and vitamin B12 deficit in a family.

    PubMed

    Welsch, Melanie; Antes, Sebastian; Kiefer, Michael; Meyer, Sascha; Eymann, Regina

    2013-07-01

    A clear etiology of Chiari malformation is still lacking. Some associations between this disorder and genetical variations have been reported. Documented cases of familial Chiari malformation in three consecutive generations are rare. Furthermore, an association of Chiari disorder and vitamin B12 deficit has rarely been described in literature. In this study, three generations of a family suffering from Chiari 1 or Chiari 0 malformation have been examined with MRI, clinically and laboratory (hemograms). Chiari malformation could be confirmed in all presented patients: While the F2 generation (children: 1 × ♀, 1 × ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari type 1, the male F0 generation showed Chiari 0 malformation. F0 and F1 generation further presented with syringomyelia (F0: C4-D1; F1: C4-D2). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relive successfully cerebellar and hydrocephalus associated progressing clinical symptoms. The hemograms of generation 1 and 2 revealed familial vitamin B12 deficit. A hereditary component is discussed in Chiari malformation, yet proved etiology is still lacking. As folic acid plays an important role in the development of the neural tube, vitamin B12 deficit might have some impact on the development of Chiari malformations.

  10. [Cerebrovenous orthostatic reactivity in pathology of the craniovertebral junction (Chiari malformation)].

    PubMed

    Shakhnovich, V A; Mitrofanova, E V; Shimanskiy, V N; Konovalov, N A; Shkarubo, A N

    2015-01-01

    Chiari malformation is characterized by herniation of the cerebellar tonsils into the foramen magnum, which leads to disturbance of CSF circulation through the craniovertebral junction. Orthostatic stress, which leads to the movement of SCF through the craniovertebral junction, is an adequate method to detect these disorders. It is accompanied by changes in the intracranial pressure, affecting the cerebrovenous orthostatic reactivity (CVOR), which is noninvasively assessed in patients with Chiari malformation. The study involved 35 patients with Chiari malformation (26 patients with Chiari I and 9 patients with Chiari II) aged 4 to 58 years (of them 12 males). Hydrocephalus was diagnosed in 4 examined patients and myelosyringosis was diagnosed in 6 patients. Transcranial Doppler sonography was used to record the venous blood flow in the tentorial sinus of the brain while changing body position on the fracture table from +90° to -30°. There is significant CVOR abnormality in most patients with Chiari malformation (more than 90%), which is characterized by either increased CVOR (sometimes 5-6-fold compared to the upper normal level (considerable hyperreactivity) or complete absence of any changes during the orthostatic load (areactivity). Before surgical treatment, CVOR of patients with Chiari malformation is often characterized by areactivity, as well as a moderate or significant hyperreactivity. After surgical treatment (decompression of the foramen magnum), patients with Chiari malformation demonstrate significant normalization of the craniovertebral volumetric ratios and CVOR if often characterized by normoreactivity (in 63%) or, more rarely, moderate hyperreactivity. The rate of venous blood flow in the tentorial sinus of the brain in patients with Chiari malformation can be increased before the surgery and normalizes after surgery. The high incidence of disturbance of CVOR (over 90%) in patients with Chiari malformation was revealed. After surgical treatment

  11. Transverse Sinus Stenosis in Adult Patients With Chiari Malformation Type I

    PubMed Central

    Saindane, Amit M.; Bruce, Beau B.; Desai, Nilesh K.; Roller, Lauren A.; Newman, Nancy J.; Biousse, Valérie

    2014-01-01

    OBJECTIVE Transverse sinus stenosis is an imaging finding very highly associated with elevated intracranial pressure (ICP). Patients with the Chiari I malformation may potentially have elevated ICP due to impairment of CSF flow at the foramen magnum. This study evaluated whether patients with Chiari I malformation have transverse sinus stenosis and other imaging findings indicative of elevated ICP. MATERIALS AND METHODS Thirty patients with Chiari I malformation treated surgically and 76 control subjects were identified retrospectively. All control subjects and all patients with Chiari I malformation (preoperatively) underwent standardized contrast-enhanced brain MRI including a contrast-enhanced 3D T1-weighted sequence from which curved reformats of the transverse sinuses were generated. Two different readers blinded to the diagnosis then independently evaluated these curved reformats for severity of transverse sinus stenosis. Orbital and skull-base findings previously described in association with elevated ICP were also evaluated. Frequency of MRI findings between the two groups was compared. RESULTS Patients with Chiari I malformation had significantly greater frequency of unilateral or bilateral transverse sinus stenosis than did control subjects (p < 0.001). There was complete interreader agreement on presence or absence of transverse sinus stenosis by patient (κ = 1.0 [95% CI, 0.89–1.0]). Logistic regression analysis controlling for age, sex, and body mass index found that transverse sinus stenosis significantly predicted Chiari I malformation versus control status (odds ratio, 11.2 [95% CI, 2.1–59.0]; p = 0.004) but that no other features were significantly associated with the Chiari I malformation. Patients with Chiari I malformation who had transverse sinus stenosis had significantly greater pituitary flattening than did those without transverse sinus stenosis (p = 0.02). CONCLUSION Patients with Chiari I malformation have higher likelihood of trans

  12. Transverse sinus stenosis in adult patients with Chiari malformation type I.

    PubMed

    Saindane, Amit M; Bruce, Beau B; Desai, Nilesh K; Roller, Lauren A; Newman, Nancy J; Biousse, Valérie

    2014-10-01

    Transverse sinus stenosis is an imaging finding very highly associated with elevated intracranial pressure (ICP). Patients with the Chiari I malformation may potentially have elevated ICP due to impairment of CSF flow at the foramen magnum. This study evaluated whether patients with Chiari I malformation have transverse sinus stenosis and other imaging findings indicative of elevated ICP. Thirty patients with Chiari I malformation treated surgically and 76 control subjects were identified retrospectively. All control subjects and all patients with Chiari I malformation (preoperatively) underwent standardized contrast-enhanced brain MRI including a contrast-enhanced 3D T1-weighted sequence from which curved reformats of the transverse sinuses were generated. Two different readers blinded to the diagnosis then independently evaluated these curved reformats for severity of transverse sinus stenosis. Orbital and skull-base findings previously described in association with elevated ICP were also evaluated. Frequency of MRI findings between the two groups was compared. Patients with Chiari I malformation had significantly greater frequency of unilateral or bilateral transverse sinus stenosis than did control subjects (p < 0.001). There was complete interreader agreement on presence or absence of transverse sinus stenosis by patient (κ = 1.0 [95% CI, 0.89-1.0]). Logistic regression analysis controlling for age, sex, and body mass index found that transverse sinus stenosis significantly predicted Chiari I malformation versus control status (odds ratio, 11.2 [95% CI, 2.1-59.0]; p = 0.004) but that no other features were significantly associated with the Chiari I malformation. Patients with Chiari I malformation who had transverse sinus stenosis had significantly greater pituitary flattening than did those without transverse sinus stenosis (p = 0.02). Patients with Chiari I malformation have higher likelihood of transverse sinus stenosis, which may reflect associated

  13. The quality of life and psychiatric morbidity in patients operated for Arnold-Chiari malformation type I.

    PubMed

    Bakim, Bahadir; Goksan Yavuz, Burcu; Yilmaz, Adem; Karamustafalioglu, Oguz; Akbiyik, Meral; Yayla, Sinan; Yuce, Ismail; Alpak, Gokay; Tankaya, Onur

    2013-10-01

    There are some case reports that highlight the association of Arnold-Chiari malformation (ACM) with psychiatric symptoms. We assessed the association between ACM and psychiatric symptoms and risk factors in terms of psychiatric morbidity and evaluated the quality of life after surgery. This study consisted of sixteen patients who underwent decompression operation at the Department of Neurosurgery of Sisli Etfal Hospital. The MINI plus, Short-Form McGill Pain Questionnaire and WHOQOL-BREF-TR were administered to patients. About 43.8% of the patients had a psychiatric disorder. About 50% of the patients had co-existing syringomyelia of which 50% with syringomyelia had a psychiatric disorder. Patients with syringomyelia without any psychiatric disorder had significantly lower scores on physical domain of WHOQOL-BREF-TR (p = 0.02) than the patients without syringomyelia and psychiatric disorder. Subjects with a psychiatric disorder had lower scores on four domains of WHOQOL-BREF-TR. The patients with psychiatric diagnoses had significantly higher scores on affective pain index (p = 0.021) and total pain index (p = 0.037) than the patients without any psychiatric disorder. The presence of a psychiatric condition influences not only the physical aspect but also deteriorates the psychological and social relations and environmental aspect. Moreover the presence of a psychiatric disorder increases the perception of pain and causes more discomfort.

  14. Isolated unilateral trismus as a presentation of Chiari malformation: case report.

    PubMed

    Feinberg, Michelle; Babington, Parker; Sood, Shawn; Keating, Robert

    2016-05-01

    The authors present a case of Chiari malformation manifesting as isolated trismus, describe the typical symptoms associated with Chiari malformation, and discuss the potential anatomical causes for this unique presentation. A 3-year-old boy presented with inability to open his jaw for 6 weeks with associated significant weight loss. The results of medical and radiological evaluation were negative except for Type I Chiari malformation with cerebellar tonsils 12 mm below the level of the foramen magnum. The patient underwent Chiari decompression surgery. Postoperatively, his ability to open his mouth was significantly improved, allowing resumption of a regular diet. Postoperative MRI revealed almost complete resolution of the syringobulbia. To the best of the authors' knowledge, this is the first reported case of isolated trismus from Chiari malformation with syringobulbia.

  15. Chiari I malformation as part of the Floating-Harbor syndrome?

    PubMed

    Kurzbuch, Arthur R; Magdum, Shailendra

    2016-12-01

    We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

    PubMed

    Ejarque, Ismael; Millán-Salvador, José M; Oltra, Silvestre; Pesudo-Martínez, José V; Beneyto, Magdalena; Pérez-Aytés, Antonio

    2015-05-01

    Noonan syndrome (NS) and other syndromes with a similar phenotype, such as LEOPARD, cardiofaciocutaneous, Costello and Legius, are associated to mutations in genes included in the RAS/MAPK pathway (RASopathies), which is an important signalling pathway related to cell proliferation. Tonsillar descent into the upper cervical spinal canal, known as Arnold-Chiari malformation (ACM), has been reported in patients with NS and this has led some researchers to suggest that ACM could be part of the phenotypic spectrum of NS. We report two cases of NS and ACM. Case 1: 29-year-old female with Noonan phenotype who underwent surgery at the age of nine years due to pulmonary valve stenosis. At the age of 27, she presented symptomatic ACM that required surgical decompression. She presented the c.922A>G (N308D) mutation in the gene PTPN that belongs to the RAS/MAPK pathway. Case 2: a 10-year-old female with Noonan phenotype and asymptomatic ACM detected in magnetic resonance imaging of the brain. She was a carrier of the c.923A>G (N308S) mutation in gene PTPN11. Six patients with this association have been found in the literature, four with the Noonan phenotype and two with LEOPARD. Our two patients provide supplementary evidence that backs up the hypothesis by which ACM would be part of the phenotypic spectrum of NS. The small number of reported cases of patients with this association does not allow us to draw up recommendations about when and how often neuroimaging studies should be performed; a careful neurological examination, however, should be included in the anticipatory health guidelines in syndromes involving the RAS/MAPK pathway.

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

    PubMed

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

    2015-09-01

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

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

    PubMed Central

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

    2015-01-01

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

  19. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    PubMed

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. 2014 BMJ Publishing Group Ltd.

  20. Syringohydromyelia in Patients with Chiari I Malformation: A Retrospective Analysis.

    PubMed

    Gad, K A; Yousem, D M

    2017-09-01

    The association of syringohydromyelia with Chiari I malformation has a wide range, between 23% and 80% of cases in the current literature. In our experience, this range might be overestimated compared with our observations in clinical practice. Because there is an impact of Chiari I malformation-associated syringohydromyelia on morbidity and surgical intervention, its diagnosis is critical in this patient population. Identifying related variables on the basis of imaging would also help identify those patients at risk of syrinx formation during their course of disease. We performed a retrospective analysis of the MR imaging studies of 108 consecutive cases of Chiari I malformation. A multitude of factors associated with syrinx formation were investigated, including demographic, morphometric, osseous, and dynamic CSF flow evaluation. Thirty-nine of 108 (36.1%) patients with Chiari I malformation had syringohydromyelia. On the basis of receiver operating characteristic curve analysis, a skull base angle (nasion-sella-basion) of 135° was found to be a statistically significant classifier of patients with Chiari I malformation with or without syringohydromyelia. Craniocervical junction osseous anomalies (OR = 4.3, P = .001) and a skull base angle of >135° (OR = 4.8, P = .0006) were most predictive of syrinx formation. Pediatric patients (younger than 18 years of age) who developed syringohydromyelia were more likely to have associated skull base osseous anomalies than older individuals ( P = .01). Our findings support evidence of the role of foramen magnum blockage from osseous factors in the development of syringohydromyelia in patients with Chiari I malformation. © 2017 by American Journal of Neuroradiology.

  1. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation.

    PubMed

    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Schöpf, Veronika; Brugger, Peter C; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor

    2016-05-01

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm(2), 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p = .003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. • FA in the fetal midbrain is elevated in Chiari II malformations. • FA is not elevated in hydrocephalus and mild ventriculomegaly without Chiari II. • Measuring FA may help distinguish different causes for enlarged ventricles prenatally. • Elevated FA may aid in the diagnosis of open neural tube defects. • Elevated FA might contribute to stratification for prenatal surgery in Chiari II.

  2. Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

    PubMed

    Buell, Thomas J; Heiss, John D; Oldfield, Edward H

    2015-10-01

    This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. The Chiari 3.5 malformation: a review of the only reported case.

    PubMed

    Fisahn, Christian; Shoja, Mohammadali M; Turgut, Mehmet; Oskouian, Rod J; Oakes, W Jerry; Tubbs, R Shane

    2016-12-01

    In 1894, Giuseppe Muscatello described what we believe to be the only case of an occipitocervical encephalocele with a communication to the stomach. This case and its history and context compared to the Chiari 3 malformation as described 3 years earlier by Hans Chiari are presented. Based on the uniqueness of this case, we propose the term Chiari 3.5 malformation be used to describe its anatomical derailment.

  4. Chiari I malformation presenting as downbeat nystagmus: clinical presentation, diagnosis, and management.

    PubMed

    Goodwin, Denise; Halvorson, Ami R

    2012-02-15

    Chiari I malformation is a congenital, neurological condition that is characterized by defects of the skull base resulting in herniation of the cerebellum through the foramen magnum into the cervical spinal canal. Because the condition can result in visual symptoms, patients will often search for answers from their eye care providers; A 28-year-old Hispanic diabetic male with a 10-year history of nystagmus was referred to the neuro-ophthalmic disease clinic following the initiation of oscillopsia 1 year previous. Downbeat nystagmus, which worsened in right and down gaze, was evident. Cranial nerve testing was unremarkable, but the patient did report trouble with choking on food and drink. Neuroimaging revealed Chiari I malformation. The patient underwent a suboccipital craniectomy which resulted in lessened nystagmus and improved symptoms; The majority of patients with Chiari I malformation have an onset of symptoms in the second or third decade of life. Most commonly, a suboccipital headache that worsens with Valsalva maneuver is present. Visual symptoms include retro-orbital pain, flashing lights or floaters, blurred vision, photophobia, diplopia, transient vision loss, and peripheral vision loss. Objective evidence is often lacking in these patients; however, horizontal or vertical nystagmus is present in up to 45% of those with Chiari I malformation. Surgery has proven to be an effective and safe method to treat symptomatic Chiari I malformation. American Optometric Association.

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

    PubMed

    Tubbs, R Shane

    2015-10-01

    Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Hemifacial spasm associated with type 1 Chiari malformation: a retrospective study of 13 cases.

    PubMed

    Li, Ning; Zhao, Wei-Guo; Pu, Chun-Hua; Yang, Wen-Lei

    2017-04-01

    Hemifacial spasm (HFS) associated with type 1 Chiari malformation is particularly uncommon and is limited to isolated case report. The aims of this study were to report the clinical correlates of patients who had simultaneously HFS and type 1 Chiari malformation and to present the outcome of these patients treated with microvascular decompression (MVD) surgery. We retrospectively evaluated 13 patients who had simultaneously HFS and type 1 Chiari malformation among 675 HFS patients. Clinical features and radiological findings were collected from each patient and analyzed. All these 13 patients were surgically treated with MVD through retro-mastoid microsurgical approach, and postoperative outcomes were evaluated. A review of literature about this association was also provided. In this study, the frequency of type 1 Chiari malformation in HFS patients was 1.9 %. The clinical profile of this series of patients did not differ from typical form of primary HFS. MVD achieved satisfactory results in 11 patients (85 %) in short- and long-term follow-up. There was no mortality or severe complication occurred postoperatively. Although rare, clinician should be aware of the association of HFS and type 1 Chiari malformation and consider MVD as an effective surgical management.

  7. [Expansive suboccipital cranioplasty in Chiari 1 malformation (a case report and technical notes)].

    PubMed

    Korshunov, A E; Kushel', Yu V

    In this case report, we describe the use of expansive suboccipital cranioplasty in Chiari-1 malformation. The technique improves the efficacy and safety of treatment for Chiari-1 malformation. The technique can be used as an adjunct treatment together with any variant of posterior fossa decompression, including duroplasty and extradural decompression.

  8. A novel technique to treat acquired Chiari I malformation after supratentorial shunting.

    PubMed

    Potgieser, Adriaan R E; Hoving, Eelco W

    2016-09-01

    The acquired Chiari I malformation with abnormal cranial vault thickening is a rare late complication of supratentorial shunting. It poses a difficult clinical problem, and there is debate about the optimal surgical strategy. Some authors advocate supratentorial skull enlarging procedures while others prefer a normal Chiari decompression consisting of a suboccipital craniectomy, with or without C1 laminectomy and dural patch grafting. We illustrate three cases of symptomatic acquired Chiari I malformation due to inward cranial vault thickening. We describe a new surgical approach that appears to be effective in these patients. This approach includes the standard Chiari decompression combined with posterior fossa augmentation by thinning the occipital planum. Internal volume re-expansion of the posterior fossa by thinning the occipital planum appears to be an effective novel surgical strategy in conjunction with the standard surgical therapy of Chiari decompression.

  9. Acquired Chiari I Malformation with Syringomyelia Secondary to Colloid Cyst with Hydrocephalus-Case Report and Review of Literature.

    PubMed

    Thotakura, Amit Kumar; Marabathina, Nageswara R

    2017-12-01

    Acquired Chiari malformation and associated syringomyelia have been previously described following lumbar puncture/drainage, lumboperitoneal shunts, and spontaneous cerebrospinal fluid leakage. In addition to these etiologies, space-occupying lesions such as meningiomas, epidermoid cysts, medulloblastomas, and arachnoid cysts are rare causes of acquired Chiari malformation and syringomyelia. We report a rare case of colloid cyst with hydrocephalus causing secondary Chiari malformation with syringomyelia. A 58-year-old lady presented with neck pain and difficulty in walking and numbness of all 4 limbs of 1-year duration. Diagnostics with magnetic resonance imaging of the head and the cervical spine were done in the referring hospital. The patients was then referred with the diagnosis of colloid cyst with hydrocephalus and Chiari malformation 1 with cervicodorsal syringomyelia. She underwent colloid cyst excision through the transcallosal approach. Postoperatively the patient showed improvement in her symptomatology. Magnetic resonance imaging of the brain and cervical spine at 6 months' follow-up showed resolved Chiari malformation and resolving syrinx. Colloid cyst with hydrocephalus is a rare cause of secondary Chiari malformation with syringomyelia. Surgical management of the underlying lesion improves acquired Chiari malformation and associated syringomyelia. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Technique for Mini-open Decompression of Chiari Type I Malformation in Adults.

    PubMed

    Pakzaban, Peyman

    2017-08-01

    The technique for decompression of Chiari type I malformation relies on open exposure of craniocervical junction for suboccipital craniectomy and upper cervical laminectomy with or without duraplasty. There is no detailed technical report of a minimally invasive approach for Chiari decompression in adults. To describe a mini-open technique for decompression of Chiari type I malformation (including duraplasty) in adults. Six consecutive adult patients with symptomatic Chiari type I malformation underwent decompression through a 3 to 4 cm midline incision via a speculum retractor. All patients underwent a limited suboccipital craniectomy and C1 laminectomy with an ultrasonic bone scalpel. All patients underwent duraplasty with a synthetic dural substitute. In the 2 patients with syringomyelia, the arachnoid was opened and intradural dissection was carried out. In the remaining 4 patients, the arachnoid was left intact. All operations were completed successfully through the mini-open exposure. Mean surgery time, blood loss, and length of stay were 114 min, 55 mL, and 1.3 days, respectively. Mean follow-up was 13.2 months (range 9-18). All patients had excellent clinical outcomes as defined by scores of 15 (3 patients) or 16 (3 patients) on Chicago Chiari Outcome Scale. There were no neurological complications or cerebrospinal fluid leaks. Postop computed tomography revealed good boney decompression. In the 2 patients with syringomyelia, MRI at 6 months revealed resolution of the syrinx. Decompression of Chiari type I malformation in adults can be performed safely and effectively through the mini-open exposure described in this report. Copyright © 2017 by the Congress of Neurological Surgeons

  11. Diagnostic value of neuro-ophthalmological signs in cases of Chiari I malformation.

    PubMed

    Bekerman, Inessa; Sigal, Tal; Kimiagar, Itzhak; Almer, Zina Evy; Vaiman, Michael

    2016-12-01

    Our purpose was to evaluate the diagnostic value of measuring diameters of optic nerve sheath (ONSD), presence/absence of papilledema, tortuosity of the optic nerve, flattening of the posterior sclera, and intraocular protrusion of the prelaminar optic nerve for intracranial pressure assessment in cases of Chiari I malformation. In a retrospective study, MRI data of 37 consecutive pediatric patients with Chiari malformation and data of 400 patients without intracranial pathology were compared and analyzed. ONSDs were measured at the point where the ophthalmic artery crosses the optic nerve (anatomical landmark). The correlation analysis was performed with clinical findings, gender, age, papilledema, and other neuro-ophthalmological findings. ONSD was enlarged in 38 % of cases of Chiari malformation. The enlargement was bilateral, no correlation with age or gender was found (p = 0.67 and p = 0.76, respectively). The presence of papilledema was detected in 19 % of cases presenting less valuable diagnostic sign if compared with ONSD. The tortuosity of the optic nerve was found in 22 % of cases, but in three patients, it was unilateral. All patients with enlarged ONSD and other neuro-ophthalmological signs present were treated surgically, while most of the patients without these signs (20/23) were treated conservatively. In majority of pediatric cases of Chiari malformation, the ONSD is not enlarged and other neuro-ophthalmological signs are not present. Detecting the enlarged ONSD and other neuro-ophthalmological signs in cases of Chiari malformation may indicate the elevated intracranial pressure and necessity for urgent surgical intervention.

  12. Cyclical vomiting syndrome secondary to a Chiari I malformation-a case report.

    PubMed

    White, William L; Bagga, Veejay; Campbell, David I; Hart, Anthony R; Ushewokunze, Shungu

    2017-12-01

    Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation type I. We report the case of a 12-year-old child diagnosed with cyclical vomiting syndrome and a Chiari malformation type I. The patient received symptomatic relief following a craniocervical decompression.

  13. Chiari decompression outcomes using ligamentum nuchae harvest and duraplasty in pediatric patients with Chiari malformation type I.

    PubMed

    Cools, Michael J; Quinsey, Carolyn S; Elton, Scott W

    2018-04-13

    OBJECTIVE The choice of graft material for duraplasty in decompressions of Chiari malformations remains a matter of debate. The authors present a detailed technique for harvesting ligamenta nuchae, as well as the clinical and radiographic outcomes of this technique, in a case series. METHODS The authors conducted a retrospective study evaluating the outcomes of Chiari malformation type I decompression and duraplasty in children aged 0-18 years at a single institution from 2013 to 2016. They collected both intraoperative and postoperative variables and compared them qualitatively to published data. RESULTS During the study period, the authors performed 25 Chiari malformation decompressions with ligamentum nuchae graft duraplasties. Of the 25 patients, 10 were females, and the mean age at surgery was 8.6 years (range 13 months to 18 years). The median operative time was 163 minutes (IQR 152-187 minutes), with approximately 10 minutes needed by a resident surgeon to harvest the graft. The mean length of stay was 3 nights (range 2-6 nights), and the mean follow-up was 12.6 months (range 0.5-43.5 months). One patient (4%) developed a CSF leak that was repaired using an oversewing patch. There were no postoperative pseudomeningoceles or infections. Of the 19 patients presenting with a syrinx, imaging showed improvement in 10 (53%) and 8 (42%) had stable syrinx size on imaging. Of 16 patients presenting with a symptomatic Chiari malformation, 14 (87.5%) experienced resolution of symptoms and in 1 (4%) symptoms remained the same. One patient (4%) presented with worsening syrinx and symptoms 1.5 months after initial surgery and underwent repeat decompression. CONCLUSIONS The authors describe a series of clinical and imaging outcomes of patients who underwent Chiari malformation decompression and duraplasty with a harvested ligamentum nuchae. The rates of postoperative CSF leak are similar to established techniques of autologous and artificial grafts, with similarly

  14. Cough-Associated Changes in CSF Flow in Chiari I Malformation Evaluated by Real-Time MRI.

    PubMed

    Bhadelia, R A; Patz, S; Heilman, C; Khatami, D; Kasper, E; Zhao, Y; Madan, N

    2016-05-01

    Invasive pressure studies have suggested that CSF flow across the foramen magnum may transiently decrease after coughing in patients with symptomatic Chiari I malformation. The purpose of this exploratory study was to demonstrate this phenomenon noninvasively by assessing CSF flow response to coughing in symptomatic patients with Chiari I malformation by using MR pencil beam imaging and to compare the response with that in healthy participants. Eight symptomatic patients with Chiari I malformation and 6 healthy participants were studied by using MR pencil beam imaging with a temporal resolution of ∼50 ms. Patients and healthy participants were scanned for 90 seconds (without cardiac gating) to continuously record cardiac cycle-related CSF flow waveforms in real-time during resting, coughing, and postcoughing periods. CSF flow waveform amplitude, CSF stroke volume, and CSF flow rate (CSF Flow Rate = CSF Stroke Volume × Heart Rate) in the resting and immediate postcoughing periods were determined and compared between patients and healthy participants. There was no significant difference in CSF flow waveform amplitude, CSF stroke volume, and the CSF flow rate between patients with Chiari I malformation and healthy participants during rest. However, immediately after coughing, a significant decrease in CSF flow waveform amplitude (P < .001), CSF stroke volume (P = .001), and CSF flow rate (P = .001) was observed in patients with Chiari I malformation but not in the healthy participants. Real-time MR imaging noninvasively showed a transient decrease in CSF flow across the foramen magnum after coughing in symptomatic patients with Chiari I malformation, a phenomenon not seen in healthy participants. Our results provide preliminary evidence that the physiology-based imaging method used here has the potential to be an objective clinical test to differentiate symptomatic from asymptomatic patients with Chiari I malformation. © 2016 by American Journal of Neuroradiology.

  15. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Foramen magnum decompression for Chiari I malformation: a procedure not to be underestimated.

    PubMed

    Duddy, John Charles; Allcutt, David; Crimmins, Darach; O'Brien, David; O'Brien, Donncha Finbarr; Rawluk, Daniel; Sattar, Mohammed Taufiq; Young, Steven; Caird, John

    2014-06-01

    Chiari I malformation may be treated with foramen magnum decompression (FMD). We aim to describe the symptoms with which patients initially present, and to determine the number and type of complications occurring after FMD for Chiari I malformation. Retrospective review of medical records for patients who had FMD performed for Chiari I malformation between January 2009 and December 2011. Post-operative outcomes were recorded and analysed. Patient demographic details and other relevant medical conditions were also noted. Between January 2009 and December 2011, 54 FMDs were performed for Chiari I malformation. Among them, 40(74%) patients were female and 14 patients (26%) were male. The majority of patients (42.6%) were aged 16-39 years and 24.07% of patients were children aged < 16 years. A total of 30(55.6%) patients had documented evidence of a syrinx pre-operatively. 18(33.3%) patients developed complications. Nine of these developed multiple complications while nine had a single problem. One mortality was reported. Ten (18.5%) patients developed hydrocephalus requiring shunting. Two patients developed subdural collections requiring evacuation associated with hydrocephalus. Six (11.1%) patients developed post-operative infections: two CNS infections; one wound infection; and three other infections. FMD for Chiari I malformation is a procedure which carries risk. In particular, the risk of developing post-operative hydrocephalus requiring permanent shunting is relatively high. ICP monitoring prior to FMD may be required to definitively rule out raised intracranial pressure.

  17. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    PubMed Central

    Tarani, Luigi; Del Balzo, Francesca; Costantino, Francesco; Properzi, Enrico; D’Eufemia, Patrizia; Liberati, Natascia; Spalice, Alberto

    2010-01-01

    Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation. PMID:21589844

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

    PubMed Central

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

    2014-01-01

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

  19. [Type I Chiari malformation associated with cerebellar atrophy. Case report].

    PubMed

    Moscote-Salazar, Luis Rafael; Calderón-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Lee-Aguirre, Ángel; Alcalá-Cerra, Gabriel

    2017-01-01

    Chiari malformation is characterized by caudal displacement of the cerebellar tonsils that penetrate into the spinal canal through the foramen magnum, achieving reach the atlas or axis. trunk and any drop of the fourth ventricle is observed. Typically is seen in young adults. In some cases scoliosis and Syringomyelic cavities may occur. The authors present (as far as they know) the first case in the literature with long term follow-up, of a caucasian woman with an unusual form of cerebellar atrophy and Chiari Type I malformation, suffering from weakness in his upper and lower extremities with rapidly progression. The patient was successfully treated with suboccipital decompression and C1 laminectomy.

  20. Chiari I malformation with underlying pseudotumor cerebri: Poor symptom relief following posterior decompression surgery.

    PubMed

    Alnemari, Ahmed; Mansour, Tarek R; Gregory, Stephanie; Miller, William K; Buehler, Mark; Gaudin, Daniel

    2017-01-01

    
 Pseudotumor cerebri (PTC) patients exhibit clear clinical signs and symptoms of higher intracranial pressure (ICP) without ventricular enlargement or mass lesions. The clinical picture of patients with PTC can sometimes be similar to that of Chiari Malformation type I (CMI). There is some evidence that Chiari I malformation and PTC may coexist, which raises the question of whether PTC is an idiopathic disease or a complication of posterior decompression surgery-treatment of choice for Chiari I malformation. A retrospective review of electronic medical records of patients diagnosed with PTC at the University of Toledo Medical Center (UTMC) was performed. The objective was to determine whether PTC patients had a concurrent diagnosis of Chiari I malformation and whether the diagnosis of PTC occurred before or after posterior decompression surgery. Out of the 8 eligible patient medical records reviewed, 5 patients diagnosed with PTC had undergone posterior decompression surgery for Chiari I malformation at anywhere from several days to three years prior to being diagnosed with PTC. The diagnosis of PTC was based on temporary symptomatic relief following lumbar puncture which also showed elevated CSF opening pressures. Finally, a VP shunt was placed in each of the 5 patients to relieve the elevated intracranial pressure which resulted in the complete resolution of the patients' symptoms. Our study focuses on patients who were diagnosed with and treated for CMI then reported back to the clinic within several days to three years complaining of symptoms of headache. Upon re-presenting to the clinic, a CSF flow study was performed which showed normal flow of CSF. Then, these patients underwent a lumbar puncture which demonstrated an elevated opening pressure (and ICP) and a temporary relief of the headache with lumbar drainage. A VP shunt was placed for each patient to treat for PTC, and the patients' headaches were relieved. This study suggests that the presence of

  1. The Risk of Athletes with Chiari Malformations Suffering Catastrophic Injuries during Sports Participation is Low

    PubMed Central

    Meehan, William P.; Jordaan, Marc; Prabhu, Sanjay P.; Carew, Liz; Mannix, Rebekah C.; Proctor, Mark R.

    2014-01-01

    Objective To estimate the risk of athletes with Chiari malformations sustaining a catastrophic injury. Design Retrospective, descriptive cohort study. Participants All patients diagnosed with Chiari malformation at our institution between June 2008 and November 2011. Assessment of Risk Factors Participants were mailed a questionnaire regarding the number of seasons they participated in organized athletics. Magnetic resonance images were reviewed to describe the characteristics of respondent’s Chiari malformations. Main Outcome Measures Whether or not the patient had sustained an injury resulting in death, coma, or paralysis. Results We had a 53% (N=147) response rate. Respondents were a mean age of 15 years (SD 2 years) at the time of diagnosis. The mean length of protrusion of the cerebellar tonsils below the foramen magnum was 11.2mm (SD 5.7mm). The majority of respondents had pointed cerebellar tonsils and some degree of crowding within the foramen magnum. During a total of 1,627 athletic seasons played by patients with Chiari malformation, 0 respondents (95% CI 0.0000, 0.0023) sustained an injury resulting in death, coma or paralysis. Likewise, during 191 collision sport athletic seasons, 0 (95% CI 0.0000, 0.0191) respondents sustained an injury resulting in death, coma or paralysis. Conclusions The risk of athletes with Chiari malformations suffering catastrophic injuries during sports participation is low. This estimate of risk should be considered when making return-to-play decisions. Given the variability of anatomical consideration for patients with Chiari malformations, however, each return-to-play decision must continue to be made on a case-by-case basis, considering all of the available information. PMID:24905537

  2. Brainstem conundrum: the Chiari I malformation.

    PubMed

    Mueller, D

    2001-04-01

    To describe the Chairi I Malformation in relation to the anatomy of the brain and spinal cord, the common manifestations of the condition, diagnostic considerations, and management for the primary care provider. Extensive review of the world-wide scientific literature on the condition, supplemented with actual case studies. The adult Chairi I Malformation is an insidious congenital brainstem anomaly that consists of caudal displacement of the cerebellar tonsils, brainstem and fourth ventricle into the upper cervical space, resulting in overcrowding of the posterior fossa. Due to the vague, and often ambiguous presenting symptoms of Chiari I Malformation, many patients are misdiagnosed with conditions such as multiple sclerosis, fibromyalgia, chronic fatigue syndrome, or psychiatric disorders. Patients frequently experience symptoms months to years prior to accurate diagnosis and often incur irreversible neurologic deficits.

  3. Development of profound Chiari I malformation and cerebellar tissue loss and resolution following shunting of posterior fossa extra-axial cyst. Case report.

    PubMed

    Khan, Rabia; Oakes, Peter; Tubbs, R Shane; Oakes, W Jerry

    2017-01-01

    Chiari I malformation can be due to a multitude of etiologies such as craniosynostosis or hydrocephalus. A posterior fossa extra-axial cyst (PFEAC) appears to be an extremely rare cause of this form of hindbrain herniation. Herein, we report a case of PFEAC that presented with no Chiari I malformation and then presented months later with a significant Chiari I malformation. Following shunt placement of a PFEAC, striking reversal of the Chiari malformation as well as reconstitution of the cerebellum was noted. Patients with PFEAC might develop a Chiari I malformation and this might be treated with shunting of the PFEAC alone.

  4. Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report.

    PubMed

    Nagashima, Hiroaki; Mizukawa, Katsu; Taniguchi, Masaaki; Yamamoto, Yusuke; Kohmura, Eiji

    Gorham's syndrome is a rare bone disorder characterized by massive osteolysis of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. A 25-year-old woman with Chiari I malformation associated with Gorham's syndrome presented with aggressive paresthesia following bacterial meningitis. Axial magnetic resonance imaging (MRI) and computed tomography (CT) cisternography revealed CSF leakage in the right petrous apex. A presyrinx state was diagnosed based on the clinical symptoms and MRI findings. With resolution of the bacterial meningitis, the spinal edema and tonsillar ectopia also improved. Surgical repair of the CSF leakage was performed by an endoscopic endonasal transsphenoidal approach to prevent recurrence of meningitis. The postoperative course was uneventful. Skull base osteolysis in Gorham's syndrome may induce Chiari I malformation and CSF leakage. We should pay attention to acute progression of clinical symptoms because Gorham's syndrome may predispose to development of Chiari I malformation and may be complicated by CSF leakage. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  5. Surgical management of Chiari I malformation based on different cerebrospinal fluid flow patterns at the cranial-vertebral junction.

    PubMed

    Fan, Tao; Zhao, HaiJun; Zhao, XinGang; Liang, Cong; Wang, YinQian; Gai, QiFei

    2017-10-01

    Chiari I malformation has been shown to present different cerebrospinal fluid (CSF) flow patterns at the cranial-vertebral junction (CVJ). Posterior fossa decompression is the first-line treatment for symptomatic Chiari I malformation. However, there is still controversy on the indication and selection of decompression procedures. This research aims to investigate the clinical indications, outcomes, and complications of the decompression procedures as alternative treatments for Chiari I malformation, based on the different CSF flow patterns at the cranial-vertebral junction. In this study, 126 Chiari I malformation patients treated with the two decompression procedures were analyzed. According to the preoperative findings obtained by using cine phase-contrast MRI (cine PC-MRI), the abnormal CSF flow dynamics at the CVJ in Chiari I malformation was classified into three patterns. After a preoperative evaluation and an intraoperative ultrasound after craniectomy, the two procedures were alternatively selected to treat the Chiari I malformation. The indication and selection of the two surgical procedures, as well as their outcomes and complications, are reported in detail in this work. Forty-eight patients underwent subdural decompression (SDD), and 78 received subarachnoid manipulation (SAM). Ninety patients were diagnosed as having Chiari I malformation with a syrinx. Two weeks after the operation, the modified Japanese Orthopedic Association (mJOA) scores increased from the preoperative value of 10.67 ± 1.61 to 12.74 ± 2.01 (P < 0.01). The mean duration of follow-up was 24.8 months; the mJOA scores increased from the postoperative value of 12.74 ± 2.01 to 12.79 ± 1.91 at the end of follow-up (P = 0.48). More complications occurred in the patients who underwent SAM than in those who received SDD (SAM 11 of 78 (9.5%) vs SDD 2 of 48 (3.5%)). The abnormal CSF flow dynamics at the CVJ in Chiari I malformation can be classified into three patterns. A SAM

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

    PubMed

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

    2012-01-01

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

  7. Relationship between Cough-Associated Changes in CSF Flow and Disease Severity in Chiari I Malformation: An Exploratory Study Using Real-Time MRI.

    PubMed

    Bezuidenhout, A F; Khatami, D; Heilman, C B; Kasper, E M; Patz, S; Madan, N; Zhao, Y; Bhadelia, R A

    2018-05-10

    Currently no quantitative objective test exists to determine disease severity in a patient with Chiari I malformation. Our aim was to correlate disease severity in symptomatic patients with Chiari I malformation with cough-associated changes in CSF flow as measured with real-time MR imaging. Thirteen symptomatic patients with Chiari I malformation (tonsillar herniation of ≥5 mm) were prospectively studied. A real-time, flow-sensitized pencil-beam MR imaging scan was used to measure CSF stroke volume during rest and immediately following coughing and relaxation periods (total scan time, 90 seconds). Multiple posterior fossa and craniocervical anatomic measurements were also obtained. Patients were classified into 2 groups by neurosurgeons blinded to MR imaging measurements: 1) nonspecific Chiari I malformation (5/13)-Chiari I malformation with nonspecific symptoms like non-cough-related or mild occasional cough-related headache, neck pain, dizziness, paresthesias, and/or trouble swallowing; 2) specific Chiari I malformation (8/13)-patients with Chiari I malformation with specific symptoms and/or objective findings like severe cough-related headache, myelopathy, syringomyelia, and muscle atrophy. The Spearman correlation was used to determine correlations between MR imaging measurements and disease severity, and both groups were also compared using a Mann-Whitney U test. There was a significant negative correlation between the percentage change in CSF stroke volume (resting to postcoughing) and Chiari I malformation disease severity ( R = 0.59; P = .03). Mann-Whitney comparisons showed the percentage change in CSF stroke volume (resting to postcoughing) to be significantly different between patient groups ( P = .04). No other CSF flow measurement or anatomic measure was significantly different between the groups. Our exploratory study suggests that assessment of CSF flow response to a coughing challenge has the potential to become a valuable objective noninvasive

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

    PubMed Central

    Watts, Laura; Wordsworth, Paul

    2015-01-01

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

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

    PubMed

    Watts, Laura; Wordsworth, Paul

    2015-11-11

    X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition. 2015 BMJ Publishing Group Ltd.

  10. Beckwith-Wiedemann syndrome and Chiari I malformation--a case-based review of central nervous system involvement in hemihypertrophy syndromes.

    PubMed

    Udayakumaran, Suhas; Onyia, Chiazor U

    2015-05-01

    Beckwith-Wiedemann syndrome (BWS) is an unusual complex of abnormalities that includes mainly omphalocele, macroglossia, gigantism, visceromegaly, and neonatal hypoglycemia. Type I Chiari malformation, on the other hand, is defined as ectopia of the cerebellar tonsils below the plane of the foramen magnum. Only one case of association of BWS with Chiari I malformation has been previously reported in the literature. Several conditions involving congenital hemihypertrophy have been previously reported in association with Type I Chiari malformation. The pathophysiological mechanism for most of these associations is thought to be quite complex and still remains unclear. However, the presence of tonsillar herniation in BWS has been explained by Tubbs and Oakes in the only one existing case report of BWS with Type I Chiari malformation in the literature, to be due to associated hemihypertrophy of the skull base. We additionally suggest that cerebellar hypertrophy may also contribute to the tonsillar herniation and fourth ventricular outlet obstruction. We now report our recent experience on this association following a review of the literature on association of other hemihypertrophy syndromes with the central nervous system anomalies. We believe that a common pathogenesis of Type I Chiari malformation occurs in conditions of hemihypertrophy including BWS, probably secondary to dysmorphology involving the posterior cranial fossa, and is not just an associated finding.

  11. Cephalometric oropharynx and oral cavity analysis in Chiari malformation Type I: a retrospective case-control study.

    PubMed

    Urbizu, Aintzane; Ferré, Alex; Poca, Maria-Antonia; Rovira, Alex; Sahuquillo, Juan; Martin, Bryn A; Macaya, Alfons

    2017-02-01

    OBJECTIVE Traditionally, Chiari malformation Type I has been related to downward herniation of the cerebellar tonsils as a consequence of an underdeveloped posterior cranial fossa. Although the common symptoms of Chiari malformation Type I are occipital headaches, cervical pain, dizziness, paresthesia, and sensory loss, patients often report symptoms related to pharyngeal dysfunction such as choking, regurgitation, dysphagia, aspiration, chronic cough, and sleep disorders. In addition, tracheal intubation is often difficult in these patients. The purpose of this study was to analyze the morphological features of the oropharynx and oral cavity in patients with Chiari malformation Type I to help identify underlying anatomical anomalies leading to these debilitating symptoms. METHODS Seventy-six adult patients with symptomatic Chiari malformation Type I with cerebellar tonsillar descent greater than 5 mm below the foramen magnum and a small posterior cranial fossa and 49 sex-matched controls were selected to perform a retrospective case-control MRI-based morphometric study in a tertiary hospital. Eleven linear and areal parameters of the oropharyngeal cavity on midsagittal T1-weighted MRI were measured and the average values between patients and control cohorts were compared. Correlations between variables showing or approaching statistical significance in these structures and posterior cranial fossa measurements related with the occipital bone were sought. RESULTS Significant differences were detected for several oropharynx and oral cavity measures in the patient cohort, primarily involving the length and thickness of the soft palate (p = 9.5E-05 and p = 3.0E-03, respectively). A statistically significant (p < 0.01) moderate correlation between some of these variables and posterior cranial fossa parameters was observed. CONCLUSIONS The existence of structural oropharyngeal and oral cavity anomalies in patients with Chiari malformation Type I was confirmed, which may

  12. Chiari I malformation with and without basilar invagination: a comparative study.

    PubMed

    Klekamp, Jörg

    2015-04-01

    Chiari I malformation is the most common craniocervical malformation. Its combination with basilar invagination in a significant proportion of patients is well established. This study presents surgical results for patients with Chiari I malformation with and without additional basilar invagination. Three hundred twenty-three patients underwent 350 operations between 1985 and 2013 (mean age 43 ± 16 years, mean history of symptoms 64 ± 94 months). The clinical courses were documented with a score system for individual neurological symptoms for short-term results after 3 and 12 months. Long-term outcomes were analyzed with Kaplan-Meier statistics. The mean follow-up was 53 ± 58 months (the means are expressed ± SD). Patients with (n = 46) or without (n = 277) basilar invagination in addition to Chiari I malformation were identified. Patients with invagination were separated into groups: those with (n = 31) and without (n = 15) ventral compression by the odontoid in the foramen magnum. Of the 350 operations, 313 dealt with the craniospinal pathology, 28 surgeries were undertaken for degenerative diseases of the cervical spine, 3 were performed for hydrocephalus, and 6 syrinx catheters were removed for cord tethering. All craniospinal operations included a foramen magnum decompression with arachnoid dissection, opening of the fourth ventricle, and a duraplasty. In patients without invagination, craniospinal instability was detected in 4 individuals, who required additional craniospinal fusion. In patients with invagination but without ventral compression, no stabilization was added to the decompression. In all patients with ventral compression, craniospinal stabilization was performed with the foramen magnum decompression, except for 4 patients with mild ventral compression early in the series who underwent posterior decompression only. Among those with ventral compression, 9 patients with caudal cranial nerve dysfunctions underwent a combination of transoral

  13. Analysis of the Volumes of the Posterior Cranial Fossa, Cerebellum, and Herniated Tonsils Using the Stereological Methods in Patients with Chiari Type I Malformation

    PubMed Central

    Vurdem, Ümit Erkan; Acer, Niyazi; Ertekin, Tolga; Savranlar, Ahmet; İnci, Mehmet Fatih

    2012-01-01

    Objective. The aim of this study was to determine the posterior cranial fossa volume, cerebellar volume, and herniated tonsillar volume in patients with chiari type I malformation and control subjects using stereological methods. Material and Methods. These volumes were estimated retrospectively using the Cavalieri principle as a point-counting technique. We used magnetic resonance images taken from 25 control subjects and 30 patients with chiari type I malformation. Results. The posterior cranial fossa volume in patients with chiari type I malformation was significantly smaller than the volume in the control subjects (P < 0.05). In the chiari type I malformation group, the cerebellar volume was smaller than the control group, but this difference was not statistically significant (P > 0.05). In the chiari type I malformation group, the ratio of cerebellar volume to posterior cranial fossa volume was higher than in the control group. We also found a positive correlation between the posterior cranial fossa volume and cerebellar volume for each of the groups (r = 0.865, P < 0.001). The mean (±SD) herniated tonsillar volume and length were 0.89 ± 0.50 cm3 and 9.63 ± 3.37 mm in the chiari type I malformation group, respectively. Conclusion. This study has shown that posterior cranial fossa and cerebellum volumes can be measured by stereological methods, and the ratio of these measurements can contribute to the evaluation of chiari type I malformation cases. PMID:22629166

  14. Demographic confounders in volumetric MRI analysis: is the posterior fossa really small in the adult Chiari 1 malformation?

    PubMed

    Roller, Lauren A; Bruce, Beau B; Saindane, Amit M

    2015-04-01

    Measurement of posterior fossa volume has been proposed to have diagnostic utility and physiologic significance in the Chiari malformation type 1. This study evaluated the effects of demographics on posterior fossa volume and total intracranial volume in adult control subjects, adult patients with Chiari malformation type 1, and adult patients with idiopathic intracranial hypertension, who may share some imaging features of patients with Chiari malformation type 1. Twenty-eight patients with Chiari malformation type 1, 21 patients with idiopathic intracranial hypertension, and 113 control subjects underwent brain MRI including contrast-enhanced 3D gradient-recalled echo (GRE) T1-weighted imaging. Linear measurements of the posterior fossa and intracranial space were obtained. Manual segmentation of the posterior fossa and intracranial space was performed to yield posterior fossa volume and total intracranial volume. Age, sex, race, and body mass index (weight in kilograms divided by the square of height in meters; BMI) were controlled for when comparing cohorts. Three of the 12 linear measurements significantly predicted total intracranial volume (accounting for 74% of variance), and four predicted posterior fossa volume (54% of variance). Age, race, sex, and BMI each statistically significantly influenced posterior fossa volume and total intracranial volume. No statistically significant differences in posterior fossa volume, total intracranial volume, or ratio of posterior fossa volume to total intracranial volume were seen between the Chiari malformation type 1 group and control group after controlling for demographics. Patients with idiopathic intracranial hypertension were more likely than control subjects to have smaller posterior fossa volumes (odds ratio [OR]=1.81; p=0.01) and larger total intracranial volumes (OR=1.24; p=0.06). Linear measurements of the posterior fossa are not strong predictors of posterior fossa volume. Age, race, sex, and BMI have

  15. A Systematic Review of Chiari I Malformation: Techniques and Outcomes.

    PubMed

    Zhao, Jian-Lan; Li, Mei-Hua; Wang, Chun-Liang; Meng, Wei

    2016-04-01

    To elucidate the most efficacious treatments of Chiari I malformation (CIM). A literature search was performed using PubMed, CINAHL/Ovid, Cochrane library, and the Elsevier database. The key words "Chiari I malformation," "Chiari malformation type I," "surgery," and "treatment" were used for the search. Articles had to be peer reviewed and provide primary outcomes measured by clinical and radiographic outcomes after surgical treatments. Exclusion criteria included non-English-language articles, case reports, commentaries, information from textbooks and expert opinions, and articles that did not provide outcomes concerning specific surgical methods. Patients included were classified into 4 groups according the procedure: only bony decompression but not duroplasty (group I), bony decompression plus duroplasty (group II), bony decompression plus the resection of tonsils (group III), and shunt (group IV). Eighteen studies were identified. Groups II and III had a significantly higher improvement rate (82.25%, 86.10%, P < 0.05) of outcomes with regard to clinical signs and symptoms than the other groups. Group IV showed a statistically higher rate (30.49%, P < 0.05) of aggregating clinical signs and symptoms. In patients with syringomyelia, group III showed better clinical improvement (96.08%). Group II displayed a significantly higher rate of decrease in the size of cavities (83.33%, P < 0.05). Group IV had a statistically higher rate of increase in the size of cavities (33.87%, P < 0.05). Only bony decompression cannot achieve satisfactory outcomes. Bony decompression plus duroplasty showed the most favorable outcomes. Resection of tonsils was not recommended because of the high rate of side effects. Shunt may aggregate clinical signs and symptoms and increase the size of cavities. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus.

    PubMed

    Liang, Jie; Wu, Weifei; Ru, Neng; Chen, Jianfeng

    2017-01-01

    The syrinx can occur in any region of the spinal cord and is common in cervical and/or thoracic region, and distributing along spinal cord is unusual, especially association with Chiari II malformation and scoliosis. To report a first case of entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. The patient began to experience symptoms of bilateral hand weakness in adulthood. In this patient, MR imaging of the brain and spine showed syrinx along entire spine and hydrocephalus, cerebellar tonsillar herniation, and expansion of the fourth ventricle and posterior cranial fossa. The patient underwent operative treatment to prevent the progression of her neurological deficit. At 12 months' follow-up, the patient's neurological deficit remains stable with the scoliosis left untreated. Foramen magnum decompression, duraplasty and syrinx-shunting are effective methods even to CM II and entire syrinx.

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

    PubMed Central

    2009-01-01

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

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

    PubMed Central

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

    2006-01-01

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

  19. Cavalier King Charles Spaniels with Chiari-like malformation and Syringomyelia have increased variability of spatio-temporal gait characteristics.

    PubMed

    Olsen, Emil; Suiter, Emma Jane; Pfau, Thilo; McGonnell, Imelda M; Matiasek, Kaspar; Giejda, Anna; Volk, Holger Andreas

    2017-06-06

    Chiari-like malformation in the Cavalier King Charles Spaniel is a herniation of the cerebellum and brainstem into or through the foramen magnum. This condition predisposes to Syringomyelia; fluid filled syrinxes within the spinal cord. The resulting pathology in spinal cord and cerebellum create neuropathic pain and changes in gait. This study aims to quantify the changes in gait for Cavalier King Charles Spaniel with Chiari-like malformation and Syringomyelia. We compared Cavalier King Charles Spaniel with Chiari-like malformation with (n = 9) and without (n = 8) Syringomyelia to Border Terriers (n = 8). Two video cameras and manual tracking was used to quantify gait parameters. We found a significant increase in coefficient of variation for the spatio-temporal characteristics and ipsilateral distance between paws and a wider base of support in the thoracic limbs but not in the pelvic limbs for Cavalier King Charles Spaniels compared with the border terrier.

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

    PubMed Central

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

    2013-01-01

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

  1. Bilateral Vocal Fold Paralysis After Surgery Immediately in Adult Patient With Chiari Malformation.

    PubMed

    Chen, Yan; Yue, Jianhong; Yuan, Weixiu

    2016-06-01

    The authors report the case of a 50-year-old woman with a bilateral vocal fold paralysis after foramen magnum decompression and resection of partial cerebellar tonsil for Chiari malformation. The possible mechanisms of postoperative bilateral vocal fold paralysis are discussed.

  2. No significant difference between chiari malformation type 1.5 and type I.

    PubMed

    Liu, Wei; Wu, Hongxing; Aikebaier, Yalikun; Wulabieke, Maoliti; Paerhati, Rexiti; Yang, Xiaopeng

    2017-06-01

    Chiari malformation Type 1.5 (CM 1.5) was defined as the association of Chiari malformation Type I (CM I) and brainstem herniation. The objective was to demonstrate the difference of clinical features and surgical outcomes between CM 1.5 and CM I. All CM 1.5 and CM I adult patients who underwent posterior fossa decompression with duraplasty at our institution between 2006 and 2010 were retrospectively reviewed. Clinical characteristics, imaging features, and long-term outcomes were compared between CM 1.5 and CM I patients. A total of 142 adult patients were enrolled, including 27 CM 1.5 and 115 CM I patients. The average follow-up period was 102 months. Age at diagnosis was significantly younger in CM 1.5 group than CM I group (p=0.039). And the degree of tonsillar herniation was significantly more severe in CM 1.5 group than CM I group (p<0.001). There was no significant difference in other clinical and imaging characteristics. Moreover, improvement of symptoms was observed in 21 CM 1.5 patients (77.8%) and 94 CM I patients (81.7%), and no significant difference was detected (p=0.637). There was no significant difference in the resolution of syringomyelia between CM 1.5 (72.7%) and CM I (76.5%) patients, either (p=0. 710). Although CM 1.5 patients presented with brainstem herniation and more severe tonsillar herniation, other clinical and imaging features and surgical outcomes were similar with CM I patients. We think CM 1.5 is just a subtype of CM I, rather than a unique type of Chiari malformations. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Spontaneous C1 anterior arch fracture as a postoperative complication of foramen magnum decompression for Chiari malformation type 1

    PubMed Central

    Hirano, Yoshitaka; Sugawara, Atsushi; Mizuno, Junichi; Takeda, Masaaki; Watanabe, Kazuo; Ogasawara, Kuniaki

    2011-01-01

    Background: C1 fracture accounts for 2% of all spinal column injuries and 10% of cervical spine fractures, and is most frequently caused by motor vehicle accidents and falls. We present a rare case of C1 anterior arch fracture following standard foramen magnum decompression for Chiari malformation type 1. Case Description: A 63-year-old man underwent standard foramen magnum decompression (suboccipital craniectomy and C1 laminectomy) under a diagnosis of Chiari malformation type 1 with syringomyelia in June 2009. The postoperative course was uneventful until the patient noticed progressive posterior cervical pain 5 months after the operation. Computed tomography of the upper cervical spine obtained 7 months after the operation revealed left C1 anterior arch fracture. The patient was referred to our hospital at the end of January 2010 and C1–C2 posterior fusion with C1 lateral mass screws and C2 laminar screws was carried out in March 2010. Complete pain relief was achieved immediately after the second operation, and the patient resumed his daily activities. Conclusion: Anterior atlas fracture following foramen magnum decompression for Chiari malformation type 1 is very rare, but C1 laminectomy carries the risk of anterior arch fracture. Neurosurgeons should recognize that fracture of the atlas, which commonly results from an axial loading force, can occur in the postoperative period in patients with Chiari malformation. PMID:22059133

  4. Intradiploic pseudomeningocele and ossified occipitocervical pseudomeningocele after decompressive surgery for Chiari I malformation: report of two cases and literature review.

    PubMed

    Kurzbuch, Arthur R; Magdum, Shailendra; Jayamohan, Jayaratnam

    2017-04-01

    Intradiploic cerebrospinal fluid (CSF) collections are rare findings. The authors describe two pediatric patients with iatrogenically induced occipital CSF collections after decompressive surgery for Chiari I malformation. The first patient presents a large occipital intradiploic pseudomeningocele and the second patient an intradiploic pseudomeningocele merging with an ossified occipitocervical pseudomeningocele. Though being rarities after decompression for Chiari I malformation, intradiploic fluid collection and ossified pseudomeningocele should be considered if patients represent with aggravating presurgical or new symptoms.

  5. Two distinct populations of Chiari I malformation based on presence or absence of posterior fossa crowdedness on magnetic resonance imaging.

    PubMed

    Taylor, Davis G; Mastorakos, Panagiotis; Jane, John A; Oldfield, Edward H

    2017-06-01

    OBJECTIVE A subset of patients with Chiari I malformation demonstrate patent subarachnoid spaces around the cerebellum, indicating that reduced posterior fossa volume alone does not account for tonsillar descent. The authors distinguish two subsets of Chiari I malformation patients based on the degree of "posterior fossa crowdedness" on MRI. METHODS Two of the coauthors independently reviewed the preoperative MR images of 49 patients with Chiari I malformation and categorized the posterior fossa as "spacious" or "crowded." Volumetric analysis of posterior fossa structures was then performed using open-source DICOM software. The preoperative clinical and imaging features of the two groups were compared. RESULTS The posterior fossae of 25 patients were classified as spacious and 20 as crowded by both readers; 4 were incongruent. The volumes of the posterior fossa compartment, posterior fossa tissue, and hindbrain (posterior fossa tissue including herniated tonsils) were statistically similar between the patients with spacious and crowed subtypes (p = 0.33, p = 0.17, p = 0.20, respectively). However, patients in the spacious and crowded subtypes demonstrated significant differences in the ratios of posterior fossa tissue to compartment volumes as well as hindbrain to compartment volumes (p = 0.001 and p = 0.0004, respectively). The average age at surgery was 29.2 ± 19.3 years (mean ± SD) and 21.9 ± 14.9 years for spacious and crowded subtypes, respectively (p = 0.08). Syringomyelia was more prevalent in the crowded subtype (50% vs 28%, p = 0.11). CONCLUSIONS The authors' study identifies two subtypes of Chiari I malformation, crowded and spacious, that can be distinguished by MRI appearance without volumetric analysis. Earlier age at surgery and presence of syringomyelia are more common in the crowded subtype. The presence of the spacious subtype suggests that crowdedness alone cannot explain the pathogenesis of Chiari I malformation in many patients, supporting

  6. Early analysis of operative management of Chiari I malformation in pediatric cystic fibrosis patients.

    PubMed

    Samples, Derek C; Thoms, Dewey J; Tarasiewicz, Izabela

    2018-04-02

    Chiari I malformation, defined as herniation of the cerebellar tonsils at least 5 mm below the foramen magnum, can result from congenital or acquired pathology. While the mechanism is not well understood, an association between Chiari I and cystic fibrosis has been described in the literature. The lifelong respiratory status management necessitated by cystic fibrosis creates a greater risk of Chiari symptomatology as well as post-operative CSF-related complications in the setting of duraplasty secondary to recurrent transient increases in intracranial pressure. We will review the literature, describe our experience with these patients, and propose bony decompression as an approach to treatment. A retrospective review of pediatric patients treated at our institution with both cystic fibrosis and Chiari I was performed. Since our first case in 2016, our department has evaluated four patients carrying that dual diagnosis. All four underwent posterior fossa decompression surgery. Two patients had incidental pathology. Two symptomatic patients exhibited headaches and/or coordination difficulty. Half of the patients had associated syringomyelia. All patients were offered posterior fossa decompression utilizing intraoperative ultrasound. All four patients underwent posterior fossa decompression without duraplasty. Average operative time was 128 min. There were no complications post-operatively. Average hospital stay was 3.8 days. Average surgical length of stay was 2.3 days. Morbidity and mortality were 0%. The longest follow-up to date is 20 months. The two asymptomatic patients remained so post-operatively. The child with headaches and imbalance had complete resolution of his symptoms after surgery, as did the toddler with headaches. Both patients with syringomyelia demonstrated significant decrease in the size of their syrinxes on imaging performed at least 3 months post-operatively. Based on the literature and our experience, we recommend considering posterior

  7. Comparison of Porcine and Bovine Collagen Dural Substitutes in Posterior Fossa Decompression for Chiari I Malformation in Adults.

    PubMed

    Lee, Christine K; Mokhtari, Tara; Connolly, Ian D; Li, Gordon; Shuer, Lawrence M; Chang, Steven D; Steinberg, Gary K; Hayden Gephart, Melanie

    2017-12-01

    Posterior fossa decompression surgeries for Chiari malformations are susceptible to postoperative complications such as pseudomeningocele, external cerebrospinal fluid (CSF) leak, and meningitis. Various dural substitutes have been used to improve surgical outcomes. This study examined whether the collagen matrix dural substitute type correlated with the incidence of postoperative complications after posterior fossa decompression in adult patients with Chiari I malformations. A retrospective cohort study was conducted of 81 adult patients who underwent an elective decompressive surgery for treatment of symptomatic Chiari I malformations, with duraplasty involving a dural substitute derived from either bovine or porcine collagen matrix. Demographics and treatment characteristics were correlated with surgical outcomes. A total of 81 patients were included in the study. Compared with bovine dural substitute, porcine dural substitute was associated with a significantly higher risk of pseudomeningocele occurrence (odds ratio, 5.78; 95% confidence interval, 1.65-27.15; P = 0.01) and a higher overall complication rate (odds ratio, 3.70; 95% confidence interval, 1.23-12.71; P = 0.03) by univariate analysis. There was no significant difference in the rate of meningitis, repeat operations, or overall complication rate between the 2 dural substitutes. In addition, estimated blood loss was a significant risk factor for meningitis (P = 0.03). Multivariate analyses again showed that porcine dural substitute was associated with pseudomeningocele occurrence, although the association with higher overall complication rate did not reach significance. Dural substitutes generated from porcine collagen, compared with those from bovine collagen, were associated with a higher likelihood of pseudomeningocele development in adult patients undergoing Chiari I malformation decompression and duraplasty. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Fourth Ventriculostomy in Occlusion of the Foramen of Magendie Associated with Chiari Malformation and Syringomyelia

    PubMed Central

    Orakdogen, Metin; Emon, Selin Tural; Erdogan, Baris; Somay, Hakan

    2015-01-01

    We present four cases of hydrocephalus caused by occlusion of foramen of Magendie associated with Chiari Type I malformation and syringomyelia. The aim of this study is to evaluate the results of surgical treatment via fourth ventriculostomy with catheter from the fourth ventricle to the upper cervical subarachnoid space. Obstructive tetraventricular hydrocephalus due to occlusion of the foramina of Luschka and Magendie can be treated with cerebrospinal fluid shunting, opening the membranes with suboccipital craniotomy, placement of a catheter, endoscopic third ventriculostomy, and endoscopic fourth ventriculostomy. Our aim was to solve all the pathologies such as Chiari malformation, hydrocephalus, and syringomyelia in one approach. Thus, the treatment consisted of posterior fossa decompression and exploration. All the patients were treated with suboccipital craniectomy and C1 laminectomy with excision of the membrane obstructing the foramen of Magendie. Fourth ventriculostomy with cathetering from fourth ventricle to upper cervical subarachnoid space was performed. The postoperative period was uneventful in all the patients. Neurological status of all the patients improved. Tetraventricular hydrocephalus and syrinx were reduced in the control cranial magnetic resonance imaging. Complications such as infection and catheter migration were not observed during the follow-up period. Treatment with fourth ventriculostomy using a catheter from fourth ventricle to upper cervical subarachnoid space could be a treatment of choice in cases with hydrocephalus caused by occlusion of the foramina of Magendie, with associated Chiari Type I malformation and syringomyelia. PMID:28663969

  9. Transoral Decompression and Anterior Stabilization of Atlantoaxial Joint in Patients with Basilar Impression and Chiari Malformation Type I: A Technical Report of 2 Clinical Cases.

    PubMed

    Shkarubo, Alexey N; Kuleshov, Alexander A; Chernov, Ilia V; Vetrile, Marchel S

    2017-06-01

    Presentation of clinical cases involving successful anterior stabilization of the C1-C2 segment in patients with invaginated C2 odontoid process and Chiari malformation type I. Clinical case description. Two patients with C2 odontoid processes invagination and Chiari malformation type I were surgically treated using the transoral approach. In both cases, anterior decompression of the upper cervical region was performed, followed by anterior stabilization of the C1-C2 segment. In 1 of the cases, this procedure was performed after posterior decompression, which led to transient regression of neurologic symptoms. In both cases, custom-made cervical plates were used for anterior stabilization of the C1-C2 segment. During the follow-up period of more than 2 years, a persistent regression of both the neurologic symptoms and Chiari malformation was observed. Anterior decompression followed by anterior stabilization of the C1-C2 segment is a novel and promising approach to treating Chiari malformation type I in association with C2 odontoid process invagination. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. [Oropharyngeal dysphagia associated with Chiari I malformation and syringomyelia J].

    PubMed

    Cortés-Medina, Julio César; Cárdenas-Lara, Armando; Guerrero-Rascón, Carlos Alberto; Rodríguez-Bautista, Heber

    2014-01-01

    Dysphagia associated with neurological disease is an important clinical manifestation in the diagnosis of injury that justifies the compression of the brainstem and lower cranial nerves. To emphasize the study of dysphagia in a patient with Chiari I malformation associated with syringomyelia in the absence of primary gastroenterological symptoms. We describe the case of a 62 year-old woman with oropharyngeal dysphagia of six years of evolution, cervicobrachialgia, ptosis and facial diplexia. Magnetic resonance imaging is an essential element for establishing the etiologic diagnosis of neurogenic dysphagia.

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

    ERIC Educational Resources Information Center

    Elam, Mary Jane; Vaughn, John A.

    2011-01-01

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

  12. Do the cerebellar tonsils move during flexion and extension of the neck in patients with Chiari I malformation? A radiological study with clinical implications.

    PubMed

    Tubbs, R Shane; Kirkpatrick, Christina M; Rizk, Elias; Chern, Joshua J; Oskouian, Rod J; Oakes, W Jerry

    2016-03-01

    In the past, diagnosis of the Chiari I malformation has primarily been made on midsagittal MRI. We hypothesized that based on the frequent presentation of opisthotonos in patients with hindbrain hernia (primarily Chiari II malformation but sometimes Chiari I malformation) that the hyperextension might be a compensatory technique used by such patients to bring the cerebellar tonsils up out of the cervical spine. This prospective study reviewed imaging of patients with Chiari I malformation who underwent flexion/extension MRI for evaluation of their hindbrain herniation. Age-matched controls were used for comparison. In general, there was elevation of the cerebellar tonsils with extension and increased descent with flexion of the cervical spine. In 72 % of patients, flexion of the neck resulted in descent of the cerebellar tonsils. In 64 % of patients, extension of the neck resulted in ascent of the cerebellar tonsils. In the 14 patients with an associated syrinx, 71 % were found to have caudal movement of the cerebellar tonsils with neck flexion, and only 43 % were observed to have any movement of the cerebellar tonsils in neck extension compared to patients without a syrinx where ascent of the tonsils was seen in only nine during neck extension. Two patients were observed to have the reverse finding of ascent of the cerebellar tonsils with neck flexion and descent of the cerebellar tonsils with neck extension. Five patients had no movement of the cerebellar tonsils in either flexion or extension of the neck, and one of these had a small syrinx. Although minimal and not in all patients, we observed elevation of the herniated cerebellar tonsils with extension of the cervical spine in patients with Chiari I malformation. This finding provides evidence as to why some patients with hindbrain herniation present with opisthotonos and supports earlier findings that CSF flow is reduced at the craniocervical junction in flexion in patients with Chiari I malformation.

  13. Sagittal MRI often overestimates the degree of cerebellar tonsillar ectopia: a potential for misdiagnosis of the Chiari I malformation.

    PubMed

    Tubbs, R Shane; Yan, Huang; Demerdash, Amin; Chern, Joshua J; Fries, Fabian N; Oskouian, Rod J; Oakes, W Jerry

    2016-07-01

    We hypothesized that by using coronal MRI, Chiari I malformation could be more precisely diagnosed, would provide simple anatomic landmarks, would provide information regarding asymmetry of hindbrain herniation, and would be a better method for analyzing the tonsillar herniation postoperatively when the opisthion has been removed. Fifty consecutive pediatric patients diagnosed with Chiari I malformation had comparison between the measurements of their caudally descended cerebellar tonsils on midsagittal and coronal MRI images. On MRI coronal imaging, tonsillar asymmetry was found in 48 patients. Maximal left tonsillar descent was 20.9 mm, and maximal right tonsillar descent was 17.4 mm. On MRI sagittal imaging, tonsillar descent ranged from 5 to 27.4 mm. Fifty-eight % of patients had syringomyelia. Five patients (10 %) on coronal MRI were found to have both cerebellar tonsils that were less than 3 mm below the foramen magnum. However, all of these patients had greater than 3 mm of tonsillar ectopia on sagittal imaging. Nineteen patients (38 %) on coronal MRI were found to have one of the cerebellar tonsils that were less than 3 mm below the foramen magnum. Similarly, each of these had greater than 3 mm of tonsillar ecotpia as measured on midsagittal MRI. Also, based on these findings, Chiari I malformation is almost always an asymmetrical tonsillar ectopia. Sagittal MRI overestimates the degree of tonsillar ectopia in patients with Chiari I malformation. Misdiagnosis may occur if sagittal imaging alone is used. The cerebellar tonsils are paramedian structures, and this should be kept in mind when interpreting midline sagittal MRI.

  14. [Posterior decompression of the craniovertebral junction in syringomyelia combined with Chiari-1 malformation in children].

    PubMed

    Sanakoeva, A V; Korshunov, A E; Kadyrov, Sh U; Khukhlaeva, E A; Kushel', Yu V

    to develop the algorithm for defining the amount of posterior decompression of the craniovertebral junction in children with syringomyelia combined with Chiari-1 malformation. Sixty eight children with syringomyelia and Chiari-1 malformation, under age of 18 years, underwent posterior decompression of the craniovertebral junction (PDCVJ) in the period from January 2001 to June 2016. Seven (10%) patients underwent extradural decompression (EDD), 16 (24%) patients underwent extra-arachnoid duraplasty (EAD), 25 (37%) patients underwent intra-arachnoid dissection (IAD) and duraplasty, and 20 (29%) patients underwent PDCVJ and placement of a fourth ventricle-subarachnoid shunt. Clinical improvement occurred in 85% of patients, and stabilization was observed in 11% of patients. Syringomyelia regressed in 78% of cases. There were no complications associated with EDD; however, re-operation was required in 3 (43%) cases. In the case of EAD, treatment results were satisfactory in 11 (79%) patients; re-operation was required in 2 (12.5%) cases; there were no complications in the early postoperative period. The highest complication rate of 6 (30%) cases was associated with shunt placement and duraplasty. However, long-term results in this group of patients were satisfactory in 16 (94%) cases, and MRI-based positive changes were observed in 100% of cases. According to our analysis, EAD is the method of choice for PDCVJ in children with syringomyelia and Chiari-1 malformation without myelopathy symptoms. In the presence of myelopathy symptoms, intra-arachnoid dissection (with or without shunting) is an acceptable alternative. To our opinion, the use of EDD in syringomyelia is unadvisable.

  15. Not all cases of nyctalopia are benign: Unusual and serendipitous presentation of Arnold–Chiari Type 1 malformation at a Pediatric Tertiary Care Center

    PubMed Central

    Patra, Kailash Chandra; Kirtane, Abhijeet Prakash

    2016-01-01

    The Arnold–Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities. Papilledema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To underscore this noteworthy complication, the authors report a case of an 8-year-old boy who presented with nyctalopia and suboccipital headaches, but was diagnosed serendipitously as a case of papilledema due to Chiari I malformation. PMID:27857798

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

    PubMed Central

    2011-01-01

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

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

    PubMed Central

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

    2010-01-01

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

  18. Evaluation of the central sleep apnea in asymptomatic children with Chiari 1 malformation: an open question.

    PubMed

    Zaffanello, Marco; Sala, Francesco; Sacchetto, Luca; Gasperi, Emma; Piacentini, Giorgio

    2017-05-01

    Type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to intermittent brain hypertension. In symptomatic children, central sleep apneas are shown in polysomnography evaluation. A central apnea index of 1/h or more is considered abnormal, but >5/h is clearly considered pathological. Therefore, central sleep apnea evaluation in pediatric age may show great age-related variability. We present three patients who were assessed by polysomnography with two different scores for central sleep apneas published in the literature: the method by Scholle (2011) and the American Academy of Sleep Medicine scoring system (2012). We speculated that the Scholle scoring system can be more helpful in assessing children with asymptomatic Chiari 1 malformation for a closer follow-up. More studies are needed.

  19. Racial, Socioeconomic, and Gender Disparities in the Presentation, Treatment, and Outcomes of Adult Chiari I Malformations.

    PubMed

    Krucoff, Max O; Cook, Steven; Adogwa, Owoicho; Moreno, Jessica; Yang, Siyun; Xie, Jichun; Firempong, Alexander O; Lad, Nandan; Bagley, Carlos A

    2017-01-01

    To examine the influence of race, gender, and socioeconomic factors on presentations and outcomes of adult Chiari I malformations. The charts of 638 adult patients with Chiari I malformations were reviewed, and 287 patients were included in the study. Race, gender, insurance status, symptoms, depth of cerebellar tonsillar herniation, and presence of syringomyelia were examined as covariates in multivariate logistic regression models to identify independent predictors of presentation and outcome. Patients with public insurance had a longer stay in the hospital (P = 0.01). A higher proportion of male patients presented with upper extremity weakness (P = 0.01), lower extremity weakness (P = 0.040), and cranial nerve findings (P = 0.02). Men had shorter onset to diagnosis times (P = 0.02), worse tonsillar herniation (P = 0.03), and more severe symptoms (P = 0.05). White patients more frequently presented with back pain (P = 0.03), and African American patients more frequently presented with lower extremity weakness (P = 0.01). African Americans had worse tonsillar herniation (P < 0.01) and were more likely to present with syringomyelia (P = 0.01). Multivariate regression analysis revealed that back pain (P < 0.01), upper extremity weakness (P ≤ 0.01), upper extremity paresthesias (P < 0.01), and upper with lower extremity paresthesias (P = 0.04) were significant predictors of syringomyelia. The only independent predictor of outcome was size of tonsillar herniation (P = 0.03). Significant differences in presentation of Chiari I malformation resulting from gender, race, and insurance status were quantified for the first time. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo).

    PubMed

    McCain, Stephanie; Souza, Marcy; Ramsay, Ed; Schumacher, Juergen; Hecht, Silke; Thomas, William

    2008-09-01

    A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq/L) and hypochloridemia (108 mEq/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the brain and skull was performed, and no abnormalities were noted. However, magnetic resonance imaging detected occipital bone thickening, crowding of the caudal cranial fossa with cerebellar compression and herniation, and cervical syringohydromyelia, which was consistent with a Chiari I-like malformation. Foramen magnum decompression was performed to relieve the compression of the cerebellum. The animal recovered well with subsequent resolution of clinical signs. Hypovitaminosis A has been proposed previously as the underlying etiology for this malformation in lions with similar clinical presentations. This lion's serum and liver vitamin A concentrations were low (100 ng/ml and 25.31 microg/g, respectively) compared to concentrations reported for domestic carnivores and support hypovitaminosis A as the underlying cause of this animal's Chiari I-like malformation.

  1. Chiari malformation may increase perivascular cerebrospinal fluid flow into the spinal cord: A subject-specific computational modelling study.

    PubMed

    Lloyd, Robert A; Fletcher, David F; Clarke, Elizabeth C; Bilston, Lynne E

    2017-12-08

    Syringomyelia is associated with Chiari I malformation, although the mechanistic link is unclear. Studies have suggested that cerebrospinal fluid enters the spinal cord via the perivascular spaces, and that changes in the timing of the subarachnoid pressures may increase flow into the spinal cord. This study aims to determine how Chiari malformation and syringomyelia alter the subarachnoid space pressures and hence perivascular flow. Subject-specific models of healthy controls (N = 9), Chiari patients with (N = 7) and without (N = 8) syringomyelia, were developed from magnetic resonance imaging (MRI), to simulate the subarachnoid pressures. These pressures were input to an idealised model of the perivascular space to evaluate potential differences in perivascular flow. Peak pressures in Chiari patients without a syrinx were higher than in controls (46% increase; p = .029) and arrived earlier in the cardiac cycle than both controls (2.58% earlier; p = .045) and syrinx patients (2.85% earlier; p = .045). The perivascular model predicted Chiari patients without a syrinx would have the greatest flow into the cord (p < .05) if the arterial pulse delay was between 4 and 10% of the cardiac cycle. Using phase-contrast MRI the mean arterial delay for all subjects was similar, and was estimated as 4.7 ± 0.2%. The perivascular pumping rate showed a strong positive correlation (R Adj 2 =0.85; p < .0001) with extended periods of high pressure that arrived earlier in the cardiac cycle, suggesting these pressure characteristics may play a role in syrinx development. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Surgical Decompression for Chiari Malformation Type I: An Age-Based Outcomes Study Based on the Chicago Chiari Outcome Scale.

    PubMed

    Gilmer, Holly S; Xi, Mengqiao; Young, Sonja H

    2017-11-01

    There is currently inadequate evidence on the efficacy of surgical decompression for Chiari malformation type I (CM1) in different age groups of patients. In this study, we compared postoperative outcomes across 3 different age groups using the Chicago Chiari Outcome Scale (CCOS). A total of 144 patients who underwent Chiari decompression at our institution between 2008 and 2014 were divided into 3 groups: group A, children age 0-18 years; group B, younger adults age 19-40 years; and group C, older adults, age 41+ years. Patient outcomes were assigned a numerical value based on the CCOS and subjected to statistical analysis. Direct comparisons were made across the 3 age groups. The mean overall score was 14.0 over a mean follow-up of 27.2 months. All 3 groups demonstrated clinical improvement following Chiari decompression; however, group A demonstrated significantly better postoperative improvements than groups B and C in total CCOS scores (7.8% and 12.2%, respectively; P < 0.001) and all the component scores except complications. Group B was not significantly different from group C in total score or any of the component scores. There was a logarithmic relationship between age and outcome (R 2  = 0.64), in which the outcome scores experienced an initial decline with increasing age but leveled off by early adulthood. A direct comparison among the age groups revealed a negative age effect on surgical decompression outcomes in CM1 patients. Children performed significantly better than younger and older adults. This finding supports early surgical intervention for symptomatic pediatric patients to achieve long-term surgical benefit. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  3. Computational Investigation of Cerebrospinal Fluid Dynamics in the Posterior Cranial Fossa and Cervical Subarachnoid Space in Patients with Chiari I Malformation.

    PubMed

    Støverud, Karen-Helene; Langtangen, Hans Petter; Ringstad, Geir Andre; Eide, Per Kristian; Mardal, Kent-Andre

    2016-01-01

    Previous computational fluid dynamics (CFD) studies have demonstrated that the Chiari malformation is associated with abnormal cerebrospinal fluid (CSF) flow in the cervical part of the subarachnoid space (SAS), but the flow in the SAS of the posterior cranial fossa has received little attention. This study extends previous modelling efforts by including the cerebellomedullary cistern, pontine cistern, and 4th ventricle in addition to the cervical subarachnoid space. The study included one healthy control, Con1, and two patients with Chiari I malformation, P1 and P2. Meshes were constructed by segmenting images obtained from T2-weighted turbo spin-echo sequences. CFD simulations were performed with a previously verified and validated code. Patient-specific flow conditions in the aqueduct and the cervical SAS were used. Two patients with the Chiari malformation and one control were modelled. The results demonstrated increased maximal flow velocities in the Chiari patients, ranging from factor 5 in P1 to 14.8 in P2, when compared to Con1 at the level of Foramen Magnum (FM). Maximal velocities in the cervical SAS varied by a factor 2.3, while the maximal flow in the aqueduct varied by a factor 3.5. The pressure drop from the pontine cistern to the cervical SAS was similar in Con1 and P1, but a factor two higher in P2. The pressure drop between the aqueduct and the cervical SAS varied by a factor 9.4 where P1 was the one with the lowest pressure jump and P2 and Con1 differed only by a factor 1.6. This pilot study demonstrates that including the posterior cranial fossa is feasible and suggests that previously found flow differences between Chiari I patients and healthy individuals in the cervical SAS may be present also in the SAS of the posterior cranial fossa.

  4. Resolution of Tachyarrhythmia Following Posterior Fossa Decompression Surgery for Chiari Malformation Type I.

    PubMed

    Elia, Christopher; Brazdzionis, James; Tashjian, Vartan

    2018-03-01

    Chiari malformation (CM) type I commonly presents with symptoms such as tussive headaches, paresthesias, and, in severe cases, corticobulbar dysfunction. However, patients may present with atypical symptoms lending to the complexity in this patient population. We present a case of a CM patient presenting with atypical cardiac symptoms and arrhythmias, all of which resolved after surgical decompression. A 31-year-old female presented with atypical chest pain, palpitations, tachycardia, headaches, and dizziness for 2 years. Multiple antiarrhythmics and ultimately cardiac ablation procedure proved to be ineffective. Magnetic resonance imaging revealed CM, and the patient ultimately underwent surgical decompression with subsequent resolution of her symptoms. The surgical management of CM patients presenting with atypical symptoms can be challenging and often lead to delays in intervention. To our knowledge this is the only reported case of a patient presenting with tachyarrhythmia and atypical chest pain with resolution after Chiari decompression. We believe the dramatic improvement documented in the present case should serve to advance Chiari decompression in CM patients presenting with refractory tachyarrhythmia in whom no other discernable cause has been elucidated. Further studies are needed to better correlate the findings and to hopefully establish a criteria for patients that will likely benefit from surgical decompression. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Evaluation of operative procedures for symptomatic outcome after decompression surgery for Chiari type I malformation.

    PubMed

    Kalb, Samuel; Perez-Orribo, Luis; Mahan, Mark; Theodore, Nicholas; Nakaji, Peter; Bristol, Ruth E

    2012-09-01

    The wide spectrum of symptoms and radiographic findings in patients with Chiari I malformation makes the decision to proceed with intervention controversial. We evaluated symptomatic outcomes using diverse surgical techniques in 104 patients who underwent decompression surgery. The symptoms of most patients improved. Patients with syringomyelia showed less symptomatic improvement; however, syringomyelia was not associated with postoperative symptomatic worsening. Durotomy was performed in 97.1% and arachnoid opening was performed in 60.6% with visualization of the fourth ventricle in 51.9% of patients. Neither arachnoid opening nor fourth ventricle visualization was associated with the clinical outcome. Duraplasty was performed in 94.2% of patients. A Chiari plate was used in 13.4% of patients and was associated with favorable outcomes. Use of postoperative steroids or muscle relaxants was not associated with outcome. Syringomyelia showed a 62.5% improvement rate on postoperative MRI. In conclusion, bony decompression and dural opening are important aspects of Chiari I surgery, with symptomatic improvement observed in most patients. Copyright © 2012. Published by Elsevier Ltd.

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

    PubMed

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

    2010-11-01

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

  7. Predictive Factors of Headache Resolution After Chiari Type 1 Malformation Surgery.

    PubMed

    Grangeon, Lou; Puy, Laurent; Gilard, Vianney; Hebant, Benjamin; Langlois, Olivier; Derrey, Stephane; Gerardin, Emmanuel; Maltete, David; Guegan-Massardier, Evelyne; Magne, Nicolas

    2018-02-01

    Headache is the main and often isolated symptom of patients with Chiari type 1 malformation (CM1). Classically described as occipital and exacerbated by cough, headaches may be poorly characterized, making it difficult to establish CM1 as the underlying cause. Current guidelines for surgical posterior fossa decompression are undefined. The challenge is to distinguish headaches related to CM1 from headaches coincidentally coexisting with CM1. We aimed to determine predictive factors of headache resolution after surgery and applied to our cohort the Chiari Severity Index, a recently developed predictive prognostic score. This retrospective study enrolled 49 patients with CM1 and preoperative headache. Standardized telephone interviews regarding headaches before and after surgery were conducted by the same neurologist; magnetic resonance imaging morphometric analyses were performed by an independent neuroradiologist. Headache resolution was defined as ≥50% reduction in frequency of headache days. Preoperative factors of headache resolution after multivariate analysis were attack duration <5 minutes (P = 0.001), triggering by Valsalva maneuvers (P = 0.003), severe intensity of attack (P = 0.05), occipital location (P = 0.05), and greater number of headache days per month (P = 0.04). These characteristics are part of International Headache Society diagnostic criteria for headache attributed to CM1. No radiologic predictive factor was demonstrated. Postoperative improvement was inversely correlated with Chiari Severity Index. This study confirms the relevance of International Headache Society criteria to identify headaches related to CM1. We propose their systematic use in a preoperative questionnaire. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Chiari malformation type 1-related headache: the importance of a multidisciplinary study.

    PubMed

    Curone, Marcella; Valentini, L G; Vetrano, I; Beretta, E; Furlanetto, M-; Chiapparini, L; Erbetta, A; Bussone, G

    2017-05-01

    Chiari type 1 Malformation (CM 1) is a structural defect consisting of a displacement of the cerebellar tonsils through the foramen magnum causing obstruction of cerebrospinal fluid (CSF) outflow. CM 1 has a variety of presentation with headache being the most common symptom. The evaluation and treatment of headache related to CM 1 are often difficult, because the pain in the occipital-suboccipital region or headache that is of cough-type suggests symptomatic CM 1, but patients suffering from CM 1 can also report migraine or tension-type headache. In 2015 we started a collaborative project in which our group of neurologists, neurosurgeons and neuroradiologists contribute to create a Chiari Special Outpatient Service; this was set up to provide a multidisciplinary evaluation, treatment and follow-up of patient suffering from CM 1. 201 patients (58 males, 143 females) suffering from CM 1 were multidisciplinary evaluated. Headache characteristics, clinical features, and treatment of patients are discussed. Further progress in multidisciplinary care of headache and CM 1 should be performed to define guidelines.

  9. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

  10. Sutures - separated

    MedlinePlus

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

  11. [Comparison of posterior fossa decompression with and without duraplasty for surgical management for adult Chiari malformation type Ⅰ].

    PubMed

    Li, H Y; Li, Y M; Chen, H; Li, Y; Shi, X W

    2017-07-04

    Objective: To evaluate and compare the efficacy between posterior fossa decompression without duraplasty (PFD) and posterior fossa decompression with duraplasty (PFDD) in the surgical management for adult Chiarimalformation. Methods: Fifty-seven patients suffered from Chiari malformation type Ⅰ were treated in Department of Neurosurgery, Henan Provincial People's Hospital from August 2008 to October 2013. Twenty-three patients received posterior fossa decompression without duraplasty and the other 34 patients received posterior fossa decompression with duraplasty. The clinical results were retrospectively analyzed to compare the efficacy of two different surgical approaches. Results: There was no death or severe neurological dysfunction case in 57 patients of the two groups. Patients undergoing PFD had shorter length of hospital stay[(13.7±3.5) d vs (16.2±4.1) d, P <0.05]and surgical time[(98.7±22.1) min vs (132.3±39.6)min, P <0.05]. Cerebrospinal fluid-related complications and intracranial infection were more common in patients undergoing PFDD[(0/23, 0) vs (8/34, 23.5%), P <0.05]. Clinical improvement was comparable in two groups[(15/23, 65.2%) vs (26/34, 76.5%), P >0.05]at the one-year follow-up. The rate of syrinx regression in patients with Syringomyelia was higher in patients undergoing PFDD[(3/12, 25%) vs (17/22, 77.3%), P <0.05]. Conclusion: For adult patients with Chiari malformation type Ⅰ, PFD has the advantages of simple manipulation, short length of hospital stay and low incidence of cerebrospinal fluid-related complications and intracranial infection, compared with PFDD. It is comparable to PFDD in clinical improvement, but the effect of PFD is not as good as that of PFDD in the aspect of syrinx regression.

  12. Acquired Chiari Malformation and Syringomyelia Secondary to Space-Occupying Lesions: A Systematic Review.

    PubMed

    Wang, Justin; Alotaibi, Naif M; Samuel, Nardin; Ibrahim, George M; Fallah, Aria; Cusimano, Michael D

    2017-02-01

    Acquired Chiari malformations (ACM) and associated syringomyelia secondary to space-occupying lesions can cause neurologic deficits independent of or in combination with the offending mass. Although type I Chiari malformations are traditionally treated with posterior fossa decompression, optimal surgical management of ACM and associated syringomyelia remains unclear. The purpose of this study is to review the current literature surrounding the management of ACM. A systematic review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Using the relevant keywords, articles were identified through multiple databases from inception to April 2016. Our primary outcome was postoperative resolution of tonsillar herniation, syringomyelia, and clinical symptoms and signs. Thirty studies (27 case reports and 3 case series), encompassing 44 patients, were included in the review. Meningiomas (36%) and arachnoid cysts (32%) were the lesions most commonly associated with ACM. Offending lesions were usually large (85%) and almost all were found in the posterior fossa (89%). Syringomyelia was present in 82% of cases. Overall, all but 1 patient had improvement or resolution of their syringomyelia after surgery and none required a syrinx shunt. Rates of tonsillar ascent, syrinx resolution, and neurologic recovery were similar in patients who underwent lesion removal alone versus those who underwent posterior fossa decompression and lesion removal. Space-occupying lesions in the posterior fossa are a rare cause of ACM and syringomyelia. Surgical management of the underlying lesion improves ACM and associated syringomyelia without the need for syrinx shunting. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. [Results of surgical treatment of syringomyelia associated with Chiari 1 malformation. An analysis of 125 cases].

    PubMed

    Zuev, A A; Pedyash, N V; Epifanov, D S; Kostenko, G V

    2016-01-01

    The rate of Chiari malformation (CM) in a population ranges from 3 to 8 per 100,000 population. In 62-80% of cases, CM is accompanied by the development of syringomyelia (SM) at various levels. The clinical picture in these patients is a combination of CM and SM manifestations; however, SM symptoms often prevail, which creates some problems in the diagnosis of the disease and in the choice of optimal treatment. On the basis of our own experience of surgical interventions, we aimed to clarify the indications for surgical treatment of SM associated with CM and to determine the optimal amount of surgery and the criteria for evaluation of treatment outcomes. Two hundred twenty five patients with a combination of syringomyelia and Chiari 1 malformation were examined in the period from 2011 to February 2015. Of them, 125 patients were operated on. The mean age of the operated patients was 56±8 years. The mean time from the appearance of the first signs of the disease to surgery was 75±82 months. All operations were performed by a single surgeon. The operations were carried out in the half-sitting (89.6%) or prone (10.4%) position. The operation included sparing suboccipital craniectomy, C1 arch resection, recovery of the cerebrospinal fluid (CSF) circulation along the posterior surface of the cerebellum, and reconstruction of the dura mater in the craniovertebral junction region. Exploration of the arachnoid mater of the cisterna magna after dura opening revealed no arachnopathy in 78 (62.4%) patients (Chiari 0 malformation according to Klekamp). The type 1 arachnopathy (by Klekamp) was detected in 31 patients (24.8%), and the type 2 arachnopathy was observed in 16 (12.8%). The condition of 109 (88%) patients was evaluated one year after the surgery. Sixty one (56%) patients had partial or complete regression of preoperative neurological symptoms. The disease stopped progressing in 44 patients (40%). The disease was progressing in 4 (3.7%) patients. No recurrence of a

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

    PubMed Central

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

    2013-01-01

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

  15. Delayed Retroclival and Cervical Spinal Subdural Hematoma Complicated by Preexisting Chiari Malformation in Adult Trauma Patient.

    PubMed

    Nguyen, Ha Son; Choi, Hoon; Kurpad, Shekar; Soliman, Hesham

    2017-09-01

    Traumatic spinal subdural hematoma involving the retroclival region and upper cervical spine is a rare pathology. To our knowledge, there have only been 2 prior cases in an adult trauma patient. We describe a patient with preexisting Chiari 1 malformation, who recently sustained a unilateral type 1 occipital condyle fracture with associated disruption of the tectorial membrane and transverse ligament, which returned with a retroclival subdural hematoma extending down to C7, causing spinal cord compression and symptomatic obstructive hydrocephalus. A 30-year-old female sustained a motor vehicle collision. Computed tomography C spine revealed a type I occipital condyle fracture. Magnetic resonance imaging C spine demonstrated disruption of the tectorial membrane and avulsion of the transverse ligament at its attachment to the left C1 tubercle; moreover, there was a Chiari 1 malformation. The patient was neurologically intact. A halo was recommended, but the patient opted for an aspen collar with close management. She was discharged but returned 3 days later with apneic episodes, along with bradycardia and hypertension. She was promptly intubated. Computed tomography head showed interval ventricular enlargement. Magnetic resonance imaging C spine revealed a new ventral hematoma spanning the retroclival region to C7, most pronounced at C2-C3. On examination, she opened her eyes to pain, her pupils were equal and reactive, and she withdrew in all extremities. An external ventricular drain was emergently placed. She underwent a suboccipital craniectomy, C1-3 laminectomies, and occiput-C4 instrumented fusion. The dura was significantly tense, and no epidural hematoma was observed during lateral exploration. Postoperatively, she woke up well, exhibiting a nonfocal neurologic examination. A diagnostic angiogram was negative. She was extubated uneventfully, and the external ventricular drain was weaned off in 4 days. Traumatic spinal subdural hematoma involving both the

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

    PubMed

    Dhandapani, Sivashanmugam; Srinivasan, Anirudh

    2016-01-01

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

  17. Occipital Neuralgia in Chiari I Malformation: Two Different Events or Two Different Faces of the Same Event?

    PubMed

    Tondo, Giacomo; De Marchi, Fabiola; Mittino, Daniela; Cantello, Roberto

    2017-11-29

    Occipital neuralgia (ON) is characterized by severe pain in the occipital region due to an irritation of the occipital nerves. Traumatic injuries, mass or vascular compression, and infective and inflammatory processes could cause ON. The dislocation of a nerve/muscle/tendon, as can happen in malformations such as the Chiari I malformation (CIM), also can be responsible. Usually, headaches associated with CIM and ON are distinguishable based on specific features of pain. However, the diagnosis is not easy in some cases, especially if a clear medical history cannot be accurately collected. Determining if the pain is related to ON rather than to CIM is important because the treatments may be different.

  18. Occipital Neuralgia in Chiari I Malformation: Two Different Events or Two Different Faces of the Same Event?

    PubMed Central

    De Marchi, Fabiola; Mittino, Daniela; Cantello, Roberto

    2017-01-01

    Occipital neuralgia (ON) is characterized by severe pain in the occipital region due to an irritation of the occipital nerves. Traumatic injuries, mass or vascular compression, and infective and inflammatory processes could cause ON. The dislocation of a nerve/muscle/tendon, as can happen in malformations such as the Chiari I malformation (CIM), also can be responsible. Usually, headaches associated with CIM and ON are distinguishable based on specific features of pain. However, the diagnosis is not easy in some cases, especially if a clear medical history cannot be accurately collected. Determining if the pain is related to ON rather than to CIM is important because the treatments may be different. PMID:29392103

  19. Factors associated with spinal fusion after posterior fossa decompression in pediatric patients with Chiari I malformation and scoliosis.

    PubMed

    Mackel, Charles E; Cahill, Patrick J; Roguski, Marie; Samdani, Amer F; Sugrue, Patrick A; Kawakami, Noriaki; Sturm, Peter F; Pahys, Joshua M; Betz, Randal R; El-Hawary, Ron; Hwang, Steven W

    2016-12-01

    OBJECTIVE The authors performed a study to identify clinical characteristics of pediatric patients diagnosed with Chiari I malformation and scoliosis associated with a need for spinal fusion after posterior fossa decompression when managing the scoliotic curve. METHODS The authors conducted a multicenter retrospective review of 44 patients, aged 18 years or younger, diagnosed with Chiari I malformation and scoliosis who underwent posterior fossa decompression from 2000 to 2010. The outcome of interest was the need for spinal fusion after decompression. RESULTS Overall, 18 patients (40%) underwent posterior fossa decompression alone, and 26 patients (60%) required a spinal fusion after the decompression. The mean Cobb angle at presentation and the proportion of patients with curves > 35° differed between the decompression-only and fusion cohorts (30.7° ± 11.8° vs 52.1° ± 26.3°, p = 0.002; 5 of 18 vs 17 of 26, p = 0.031). An odds ratio of 1.0625 favoring a need for fusion was established for each 1° of increase in Cobb angle (p = 0.012, OR 1.0625, 95% CI 1.0135-1.1138). Among the 14 patients older than 10 years of age with a primary Cobb angle exceeding 35°, 13 (93%) ultimately required fusion. Patients with at least 1 year of follow-up whose curves progressed more 10° after decompression were younger than those without curve progression (6.1 ± 3.0 years vs 13.7 ± 3.2 years, p = 0.001, Mann-Whitney U-test). Left apical thoracic curves constituted a higher proportion of curves in the decompression-only group (8 of 16 vs 1 of 21, p = 0.002). CONCLUSIONS The need for fusion after posterior fossa decompression reflected the curve severity at clinical presentation. Patients presenting with curves measuring > 35°, as well as those greater than 10 years of age, may be at greater risk for requiring fusion after posterior fossa decompression, while patients less than 10 years of age may require routine monitoring for curve progression. Left apical thoracic curves

  20. Direct numerical simulation of transitional hydrodynamics of the cerebrospinal fluid in Chiari I malformation: The role of cranio-vertebral junction.

    PubMed

    Jain, Kartik; Ringstad, Geir; Eide, Per-Kristian; Mardal, Kent-André

    2017-09-01

    Obstruction to the cerebrospinal fluid (CSF) outflow caused by the herniation of cerebellar tonsils as a result of Chiari malformation type I leads to altered CSF hydrodynamics. This contribution explores the minutest characteristics of the CSF hydrodynamics in cervical subarachnoid space (SAS) of a healthy subject and 2 Chiari patients by performing highly resolved direct numerical simulation. The lattice Boltzmann method is used for the simulations because of its scalability on modern supercomputers that allow us to simulate up to approximately 10 9 cells while resolving the Kolmogorov microscales. The results depict that whereas the complex CSF flow remains largely laminar in the SAS of a healthy subject, constriction of the cranio-vertebral junction in Chiari I patients causes manifold fluctuations in the hydrodynamics of the CSF. These fluctuations resemble a flow that is in a transitional regime rather than laminar or fully developed turbulence. The fluctuations confine near the cranio-vertebral junction and are triggered due to the tonsillar herniation, which perturbs the flow as a result of altered anatomy of the SAS. Copyright © 2016 John Wiley & Sons, Ltd.

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

    PubMed Central

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

    2014-01-01

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

  2. Audio-vestibular signs and symptoms in Chiari malformation type i. Case series and literature review.

    PubMed

    Guerra Jiménez, Gloria; Mazón Gutiérrez, Ángel; Marco de Lucas, Enrique; Valle San Román, Natalia; Martín Laez, Rubén; Morales Angulo, Carmelo

    2015-01-01

    Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common presentation is occipital headache, the association of audio-vestibular symptoms is not rare. The aim of our study was to describe audio-vestibular signs and symptoms in Chiari malformation type i (CM-I). We performed a retrospective observational study of patients referred to our unit during the last 5 years. We also carried out a literature review of audio-vestibular signs and symptoms in this disease. There were 9 patients (2 males and 7 females), with an average age of 42.8 years. Five patients presented a Ménière-like syndrome; 2 cases, a recurrent vertigo with peripheral features; one patient showed a sudden hearing loss; and one case suffered a sensorineural hearing loss with early childhood onset. The most common audio-vestibular symptom indicated in the literature in patients with CM-I is unsteadiness (49%), followed by dizziness (18%), nystagmus (15%) and hearing loss (15%). Nystagmus is frequently horizontal (74%) or down-beating (18%). Other audio-vestibular signs and symptoms are tinnitus (11%), aural fullness (10%) and hyperacusis (1%). Occipital headache that increases with Valsalva manoeuvres and hand paresthesias are very suggestive symptoms. The appearance of audio-vestibular manifestations in CM-I makes it common to refer these patients to neurotologists. Unsteadiness, vertiginous syndromes and sensorineural hearing loss are frequent. Nystagmus, especially horizontal and down-beating, is not rare. It is important for neurotologists to familiarise themselves with CM-I symptoms to be able to consider it in differential diagnosis. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  3. Spinning, hurting, still, afraid: Living life spaces with Type I Chiari Malformation.

    PubMed

    Andrews, Gavin J

    2018-01-31

    Human geography's varied engagement with the brain has involved considerations of the way people know and respond to their environments, and their place-based experiences with emotions, mental illnesses and disorders, intellectual disabilities and particular neurological conditions. This paper argues however that this scholarship could be augmented by, and existing expertise be directed towards, considering physical brain abnormalities and injuries. As a case in point it considers the spatial experience of living with Type 1 Chiari Malformation. Through interviews with four sufferers, the research articulates three domains that they have had to re-negotiate - home space, social space and medical space - emphasizing supportive and challenging aspects of each, as well as meaningful and affective qualities to encounters. The paper concludes with some pointers towards the future study of physical brain abnormalities and injuries and the kinds of knowledge it might create to increase awareness and inform care. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Acute deterioration in occult Chiari malformation following missile spinal trauma. Case report.

    PubMed

    Shahlaie, Kiarash; Hartman, Jonathan; Utter, Garth H; Schrot, Rudolph J

    2008-04-01

    Patients with Chiari malformation (CM) Type I typically experience chronic, slowly progressive symptoms. Rarely, however, do they suffer acute neurological deterioration following an iatrogenic decrease in caudal cerebrospinal fluid pressure due to, for example, a lumbar puncture. To our knowledge, acute neurological deterioration following missile spinal injury in CM has not been previously described. The authors report on a 16-year-old girl who was shot in the abdomen and lumbar spine. Although neurologically intact on initial workup, she developed precipitous quadriplegia and apnea in a delayed fashion. Tonsillar herniation with medullary compression and cerebellar infarction was diagnosed on magnetic resonance imaging. Suboccipital decompression resulted in significant neurological improvement. Well-formed tonsillar ectopia diagnosed at surgery suggested a preexisting CM. The authors conclude that missile spinal trauma can precipitate medullary compression and acute neurological decline, especially in patients with preexisting tonsillar ectopia. Immediate operative decompression to relieve impaction at the cervicomedullary junction can result in significant neurological recovery.

  5. Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery.

    PubMed

    García, Maitane; Lázaro, Esther; López-Paz, Juan Francisco; Martínez, Oscar; Pérez, Manuel; Berrocoso, Sarah; Al-Rashaida, Mohammad; Amayra, Imanol

    2018-05-15

    Chiari Malformation type I (CM-I) is a neurological disorder characterized by a displacement of the cerebellar tonsils through the foramen magnum into the spinal canal. Most research has focused on physical symptomatology but few studies include neuropsychological examinations. Moreover, although current research highlights the involvement of the cerebellum on higher cognitive functions, little is known about cognitive consequences associated with CM-I. The aim of this study is to analyze cognitive functioning between 39 CM-I patients and 39 healthy controls, matched by gender, age and years of education. Participants have been examined on a large battery of neuropsychological tests, including executive functioning, verbal fluency, spatial cognition, language, verbal memory, processing speed, facial recognition and theory of mind. Results show a poorer performance of the clinical group compared to the control group, even after controlling the effect of physical pain and anxious-depressive symptomatology. The findings suggest the presence of a generalized cognitive deficit associated with CM-I, which makes it necessary to focus attention not only on physical consequences, but also on cognitive ones.

  6. Morphometric features of posterior cranial fossa are different between Chiari I malformation with and without syringomyelia.

    PubMed

    Yan, Huang; Han, Xiao; Jin, Mengran; Liu, Zhen; Xie, Dingding; Sha, Shifu; Qiu, Yong; Zhu, Zezhang

    2016-07-01

    To investigate whether the posterior cranial fossa (PCF) morphology in Chiari I malformation without syringomyelia (also called syrinx) (CMI-only) is different from that in Chiari I malformation with syrinx (CMI-S). Nineteen CMI patients without syrinx constituted the CMI-only group, whereas 48 CMI patients with syrinx were assigned to the CMI-S group. Another cohort of 40 age-matched asymptomatic adolescents was enrolled to serve as the control group. Six measurements were evaluated and compared between these three groups from T1-weighted magnetic resonance (MR) imaging, including the length of the clivus (AB), the anteroposterior diameter of the foramen magnum (BC), the length of the supraocciput (CD), the anteroposterior diameter of the posterior fossa (DA), the posterior fossa height (BE) and the clivus gradient ([Formula: see text]). The posterior cranial fossa morphology in relation to syrinx severity was also investigated. Compared to the normal controls, the AB, CD, DA, BE and [Formula: see text] were significantly larger in the CMI-S group. Similar changes in AB, CD, DA and BE were also demonstrated in the CMI-only group, while the clivus gradient ([Formula: see text]) was found to be normal when compared with the control group. A significantly decreased clivus gradient was observed in the CMI-S group as compared to CMI-only group. In addition, the clivus was significantly flattened in patients with a distended-syrinx in comparison to those with a non-distended syrinx. Small size of the posterior fossa was detected both in CMI cases with and without syrinx. The clivus gradient served as the only morphologic difference in the PCF between CMI-S and CMI-only patients and was correlated with the severity of the syrinx, may support the theory that the restricted circulation of cerebrospinal fluid at the anterior paramedial subarachnoid space contributes to the formation of a syrinx.

  7. Complete Reversibility of the Chiari Type II Malformation After Postnatal Repair of Myelomeningocele.

    PubMed

    Beuriat, Pierre-Aurélien; Szathmari, Alexandru; Rousselle, Christophe; Sabatier, Isabelle; Di Rocco, Federico; Mottolese, Carmine

    2017-12-01

    It was believed that Chiari type II malformation (CM-II) was always present in a myelomeningocele (MMC). In fact, it is associated in about 80% of cases. Improvement of the hindbrain herniation after prenatal closure of MMC has challenged the idea that this condition was irreversible. Only 2 studies report ascent of the cerebellar tonsil after postnatal closure. This work aimed to study a large group of patients with MMC who benefited from a postnatal repair to evaluate the rate of long-term total reversibility of CM-II. Sixty-one patients were included. Mean time of follow-up was 8.1 years. The presence of CM-II after closure of the MMC was assessed on the most recent brain scan available for each patient. Forty-seven patients (77%) had a CM-II at birth (confirmed before the MMC repair). There was a significant correlation between the level of the malformation and the presence of a CM-II at birth (P = 0.003). After MMC closure, only 28 (45.9%) patients had a remaining CM-II. The reversibility rate was 40.4%. The reversibility was higher in lower level malformations (P = 0.004). The number of patients treated for hydrocephalus was significantly higher in the group of patients with remaining CM-II (P = 0.004). Only 11.5% of the children needed surgery for a symptomatic CM-II. MMC is not always associated with CM-II. The outcome of CM-II has improved. Postnatal closure can reverse the CM-II. This must be kept in mind when analyzing the result of prenatal series. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication.

    PubMed

    Rossini, Zefferino; Milani, Davide; Costa, Francesco; Castellani, Carlotta; Lasio, Giovanni; Fornari, Maurizio

    2017-10-01

    Chiari malformation type I is a hindbrain abnormality characterized by descent of the cerebellar tonsils beneath the foramen magnum, frequently associated with symptoms or brainstem compression, impaired cerebrospinal fluid circulation, and syringomyelia. Foramen magnum decompression represents the most common way of treatment. Rarely, subdural fluid collection and hydrocephalus represent postoperative adverse events. The treatment of this complication is still debated, and physicians are sometimes uncertain when to perform diversion surgery and when to perform more conservative management. We report an unusual occurrence of subdural fluid collection and hydrocephalus that developed in a 23-year-old patient after foramen magnum decompression for Chiari malformation type I. Following a management protocol, based on a step-by-step approach, from conservative therapy to diversion surgery, the patient was managed with urgent external ventricular drainage, and then with conservative management and wound revision. Because of the rarity of this adverse event, previous case reports differ about the form of treatment. In future cases, finding clinical and radiologic features to identify risk factors that are useful in predicting if the patient will benefit from conservative management or will need to undergo diversion surgery is only possible if a uniform form of treatment is used. Therefore, we believe that a management algorithm based on a step-by-step approach will reduce the use of invasive therapies and help to create a standard of care. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Comparison of spinal deformity in children with Chiari I malformation with and without syringomyelia: matched cohort study.

    PubMed

    Godzik, J; Dardas, A; Kelly, M P; Holekamp, T F; Lenke, L G; Smyth, M D; Park, T S; Leonard, J R; Limbrick, D D

    2016-02-01

    To describe curve patterns in patients with Chiari malformation I (CIM) without syringomyelia, and compare to patients with Chiari malformation with syringomyelia (CIM + SM). Review of medical records from 2000 to 2013 at a single institution was performed to identify CIM patients with scoliosis. Patients with CIM were matched (1:1) by age and gender to CIM + SM. Radiographic curve patterns, MRI-based craniovertebral junction parameters, and associated neurological signs were compared between the two cohorts. Eighteen patients with CIM-associated scoliosis in the absence of syringomyelia were identified; 14 (78 %) were female, with mean age of 11.5 ± 4.5 years. Mean tonsillar descent was 9.9 ± 4.1 mm in the CIM group and 9.1 ± 3.0 mm in the CIM + SM group (p = 0.57). Average syrinx diameter in the CIM + SM group was 9.0 ± 2.7 mm. CIM patients demonstrated less severe scoliotic curves (32.1° vs. 46.1°, p = 0.04), despite comparable thoracic kyphosis (43.7° vs. 49.6°, p = 0.85). Two (11 %) patients with CIM demonstrated thoracic apex left deformities compared to 9/18 (50 %) in the CIM + SM cohort (p = 0.01). Neurological abnormalities were only observed in the group with syringomyelia (6/18, or 33 %; p = 0.007). In the largest series specifically evaluating CIM and scoliosis, we found that these patients appear to present with fewer atypical curve features, with less severe scoliotic curves, fewer apex left curves, and fewer related neurological abnormalities than CIM + SM. Notably, equivalent thoracic kyphosis was observed in both groups. Future studies are needed to better understand pathogenesis of spinal deformity in CIM with and without SM.

  10. Cystic angiomatosis of the craniocervical junction associated with Chiari I malformation: case report and review of the literature.

    PubMed

    Pavanello, Marco; Piatelli, Gianluca; Ravegnani, Marcello; Consales, Alessandro; Rossi, Andrea; Nozza, Paolo; Milanaccio, Claudia; Carbone, Marco; Cama, Armando

    2007-06-01

    Cystic angiomatosis of the skull and spine is an exceptionally rare, benign vascular lesion. Both the vertebral bones and the skull may be affected. Diagnosis and treatment of this disease is multidisciplinary. Histological examination is ultimately required to make a diagnosis. When the craniocervical junction is involved, the site of biopsy should be carefully selected so as to reduce procedure-related morbidity, including cerebrospinal fluid leakage and spinal deformity. We present a case report of a 4-year-old boy with cystic angiomatosis of the skull base and upper cervical spine associated with a Chiari I malformation and provide a review of the pertinent literature.

  11. Efficacy of Posterior Fossa Decompression with Duraplasty for Patients with Chiari Malformation Type I: A Systematic Review and Meta-Analysis.

    PubMed

    Chai, Zhi; Xue, Xiaoming; Fan, Huijie; Sun, Lin; Cai, Hongyu; Ma, Yanmiao; Ma, Cungen; Zhou, Ran

    2018-05-01

    To quantitatively assess and compare the effectiveness and safety of posterior fossa decompression with duraplasty (PFDD) and posterior fossa decompression (PFD) in treating patients with Chiari malformation type I. PubMed, Embase, and Cochrane Library were searched through May 2017. Fourteen cohort studies comprising 3666 patients with Chiari malformation type I were included. Studies were pooled, and the relative risk (RR) and corresponding 95% confidence interval (CI) were calculated. The decrease in syringomyelia was better in patients in the PFDD group than in patients in the PFD group (RR = 1.57, 95% CI = 1.07-2.32, P heterogeneity  = 0.042, I 2  = 56.6%). The incidence of cerebrospinal fluid leak (RR = 5.23, 95% CI = 2.61-10.51, P heterogeneity  = 0.830, I 2  = 0%) and aseptic meningitis (RR = 4.02, 95% CI = 1.46-11.03, P heterogeneity  = 0.960, I 2  = 0%) significantly increased among patients in the PFDD group compared with patients in the PFD group. When stratifying by age, a significantly reduced risk in the reoperation rate was observed in the adult group. However, the clinical improvement and the incidence of wound infection were not significantly different between the 2 groups. This study confirmed that the decrease in syringomyelia was better for patients treated with PFDD than for patients treated with PFD alone. However, no significant difference was found in the clinical improvement and the reoperation rate between the 2 groups. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Chiari Malformation and Hydrocephalus Masking Neurocysticercosis.

    PubMed

    Rajpal, Sharad; Tomberlin, Colson; Bauer, Andrew; Forsythe, Robert C; Burneikiene, Sigita

    2018-06-01

    Various diagnostic characteristics associated with neurocysticercosis have been well studied; however, their potential to be implicated in other differential diagnoses has not been well demonstrated. We report the case of a 55-year-old Hispanic man who underwent a Chiari decompression surgery, which was complicated with hydrocephalus. Despite a ventriculoperitoneal shunt placement, he continued to have headaches and was soon found to have several skull base subarachnoid lesions, which were later diagnosed as the sequelae of an active neurocysticercosis infection. This case report highlights the importance of overlapping symptoms between diseases in a short temporal context. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. Radiological evolution of peri-odontoid pannus in a patient with Chiari I malformation: a case-based review.

    PubMed

    Sanders, Felipe Hada; Wang, Joy M H; Oskouian, Rod J; Tubbs, R Shane; Oakes, W Jerry

    2017-08-01

    The Chiari I malformation (CIM) is commonly encountered by neurosurgeons and can have different etiologies and clinical presentations. We report a CIM patient who presented with symptoms of ventral brain stem compression and was found to have a large peri-odontoid pannus. Posterior fossa decompression was performed with a planned second-stage odontoidectomy. However, at the 6-month follow-up, postoperative images demonstrated a mostly resolved pannus and improvement of the brain stem compression symptoms, and the patient progressed uneventfully without the need for odontoidectomy. This case illustrates the resolution of a significant and symptomatic peri-odontoid pannus in a patient with CIM without craniocervical fusion or odontoidectomy. Such a case indicates that not all peri-odontoid pannus formations in CIM patients are due to hypermobility at the craniocervical junction.

  14. Klippel-Feil syndrome and Dandy-Walker malformation.

    PubMed

    Karaman, A; Kahveci, H

    2011-01-01

    The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation.

  15. [Anatomy and malformations of the posterior cranial fossa].

    PubMed

    Struffert, T

    2016-11-01

    Many important structures are located in the confined space within the posterior cranial fossa. This article describes the main aspects of the anatomy. As a uniform classification of malformations of the posterior cranial fossa does not exist the main syndromes, such as Chiari malformations, zerebellar hypoplasia and dysplasia are discussed separately.

  16. Posterior fossa reconstruction using titanium plate for the treatment of cerebellar ptosis after decompression for Chiari malformation.

    PubMed

    Udani, Vikram; Holly, Langston T; Chow, Daniel; Batzdorf, Ulrich

    2014-01-01

    We describe our use of a perforated titanium plate to perform a partial posterior fossa cranioplasty in the treatment of cerebellar ptosis and dural ectasia after posterior fossa decompression (PFD). Twelve patients who had undergone PFD underwent posterior fossa reconstruction using a titanium plate. Symptoms were related to either descent of the cerebellum into the decompression or to dural ectasia into the craniectomy defect. Twelve patients who had undergone large suboccipital craniectomies and who presented with persistent headaches and some with neurological symptoms related to syringomyelia, underwent reoperation with placement of a small titanium plate. Ten of 12 patients showed symptomatic improvement after reoperation. Placement of a titanium plate appears to be an effective method of treatment of cerebellar ptosis and dural ectasia after PFD for Chiari malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    PubMed

    Ferreira, Jânio A; Botelho, Ricardo V

    2015-01-01

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

  18. Lumbar subdural cerebrospinal fluid collection with acute cauda equina syndrome after posterior fossa decompression for Chiari malformation Type I: case report.

    PubMed

    Darwish, Houssein A; Oldfield, Edward H

    2016-09-01

    This report describes the circumstances of a patient with a cauda equina syndrome due to the development of a lumbar subdural CSF collection with ventral displacement of the cauda equina shortly following posterior fossa decompression for Chiari malformation Type I (CM-I). This unusual, but clinically significant, complication was successfully treated with percutaneous drainage of the extraarachnoid CSF collection. Although there are a few cases of intracranial subdural hygroma developing after surgery for CM-I, often attributed to a pinhole opening in the arachnoid, as far as the authors can determine, a spinal subdural hygroma associated with surgery for CM-I has not been recognized.

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

    PubMed

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

    2015-07-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

    2015-11-01

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

  2. Brainstem auditory and somatosensory evoked potentials in relation to clinical and neuroimaging findings in Chiari type 1 malformation.

    PubMed

    Moncho, Dulce; Poca, Maria-Antonia; Minoves, Teresa; Ferré, Alejandro; Rahnama, Kimia; Sahuquillo, Juan

    2015-04-01

    The aim of this study was to describe the abnormalities found in the recordings of evoked potentials (EPs), in particular those of brainstem auditory evoked potentials and somatosensory evoked potentials, in a homogeneous series of patients with Chiari type 1 malformation (CM-1) and study their relationship with clinical symptoms and malformation severity. CM-1 is characterized by cerebellar tonsils that descend below the foramen magnum and may be associated with EP alterations. However, only a small number of authors have described these tests in CM-1, and the patient groups studied to date have been small and heterogeneous. The clinical findings, neuroimages, and EP findings were retrospectively studied in a cohort of 50 patients with CM-1. Seventy percent of patients had EP abnormalities (brainstem auditory evoked potential: 52%, posterior tibial nerve somatosensory evoked potential: 42%, and median nerve somatosensory evoked potential: 34%). The most frequent alteration was an increased central conduction time. Morphometric measurements differed between the normal and pathological groups, although no statistical significance was found when comparing these groups. A high percentage of patients with CM-1 show EP alterations regardless of their clinical or radiological findings, thus highlighting the necessity of performing these tests, especially in patients with few or no symptoms.

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

    PubMed Central

    Ferreira, Jânio A.; Botelho, Ricardo V.

    2015-01-01

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

  4. Complicated Pseudomeningocele Repair After Chiari Decompression: Case Report and Review of the Literature.

    PubMed

    De Tommasi, Claudio; Bond, Aaron E

    2016-04-01

    Pseudomeningocele is a recognised complication after posterior fossa decompression for Chiari malformation. Its management can be challenging and treatment options vary in literature. A difficult-to-treat case of a pseudomeningocele after posterior fossa decompression for a Chiari I malformation is presented. A 34-year-old woman underwent an initial decompression followed by multiple revision surgeries after the development of a symptomatic pseudomeningocele and a low-grade infection. Complications associated with standard treatment modalities, including lumbar drainage and dural repair, are discussed. A review of the existing literature is presented. The reported case ultimately required complete removal of all dural repair materials to eliminate the patient's low-grade infection, a muscular flap, and placement of a ventricular-peritoneal shunt for definitive treatment after a trial of a lumbar drain led to herniation and development of a syrinx. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Syringo-Subarachnoid Shunt for the Treatment of Persistent Syringomyelia Following Decompression for Chiari Type I Malformation: Surgical Results.

    PubMed

    Soleman, Jehuda; Roth, Jonathan; Bartoli, Andrea; Rosenthal, Daniel; Korn, Akiva; Constantini, Shlomi

    2017-12-01

    Approximately 30% of patients treated with foramen magnum decompression (FMD) for Chiari I-associated syringomyelia will show persistence, recurrence, or progression of the syrinx. This study evaluates the clinical and radiologic outcomes of syringo-subarachnoid shunt (SSS) as the treatment for persistent syringomyelia after FMD. Data were collected retrospectively. The primary outcome measurement was neurologic function (assessed with the Modified Japanese Orthopedic Association [mJOA] scale). Secondary outcome measurements were surgical complications, reoperation rate, and syrinx status on magnetic resonance imaging (MRI). Twenty-one patients (14 females [66.7%]) underwent SSS, either concurrent to the FMD or at a later stage. Two minor surgical complications were seen: a wound dehiscence and postoperative kyphosis, both requiring revision surgery. No major complication or mortality occurred. The median change in the mJOA score was an improvement of 3 out of a possible 17 points on the scale (mean follow-up, 24.9 months). Expressed as a percentage, overall improvement was 11.8% (95% confidence interval [CI], 5.9-17.6; P < 0.001). On postoperative MRI, shrinkage of the syrinx was seen in all but 1 patient in whom the syrinx remained unchanged. Expressed as percentage, the improvement of the syrinx surface was 76.3% (95% CI, 65.0-87.7; P < 0.001), and the improvement of syrinx span was 36.4% (95% CI, 21.8-50.9; P = 0.05). SSS for persistent, recurrent, or increasing syrinx following FMD for Chiari I malformation is a safe and effective surgical treatment when performed selectively by an experienced neurosurgeon. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    PubMed Central

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

    2011-01-01

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

  7. Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature

    PubMed Central

    Petraglia, Anthony L.; Chengazi, Harris U.; Chung, Mina M.; Silberstein, Howard J.

    2012-01-01

    Objective: Leber congenital amaurosis (LCA) is a rare, clinically and genetically heterogeneous disorder characterized by severe loss of vision in the first year of life, affecting approximately 3000 people in the United States. Some LCA patients manifest developmental abnormalities of the central nervous system (CNS) and neuroradiological studies have revealed a variety of cerebral anomalies in association with LCA; however, Chiari I malformations (CMI) have never been described. Case Description: We report two sisters who were referred to the pediatric neurosurgery clinic for evaluation of CMI. The elder sister presented with convergence nystagmus from 3 months of age and magnetic resonance imaging (MRI) demonstrated evidence of significant CMI. Her younger sister began developing nystagmus at 4 months of age. Both had symptomatic progression and underwent suboccipital decompression. Both were subsequently diagnosed with LCA. Case specifics and imaging findings are presented. Conclusions: CMI have been found in association with several genetic syndromes, but not with LCA. These patients represent the first reported cases of CMI with LCA and suggest an additional potential CNS anomaly. The unique occurrence in siblings and the association with another inherited disorder are suggestive of a genetic basis for CMI. PMID:22347674

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

    PubMed

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

    2015-09-19

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

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

    PubMed Central

    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

    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

  10. Acute Presentation of Chiari I Malformation with Hemiparesis in a Pediatric Patient.

    PubMed

    Miranda, Stephen P; Kimmell, Kristopher T; Silberstein, Howard J

    2016-01-01

    Chiari I malformation (CM-I) is defined by cerebellar tonsillar herniation through the foramen magnum. Patients typically present with chronic complaints, including headache, dizziness, and numbness, although there are few reports in the literature of pediatric patients presenting acutely with neurological deficit caused by CM-I. We report a child who presented acutely with hemiparesis and magnetic resonance imaging findings consistent with CM-I and spinal cord edema. A 3-year old boy with normal development presented with difficulty walking and increased drooling. His mother stated he was running into objects and had balance issues for several days. Neurological examination showed ataxia with falling to the right after a few steps and weakness of the right arm and leg. His medical history was remarkable only for mild asthma, although he had recently been treated for an upper respiratory viral infection. Computed tomography of the head demonstrated no brainstem mass. Magnetic resonance imaging of the head and cervical spine showed tonsillar ectopia approximately 2 cm below the craniocervical junction with increased T2 signal in the spinal cord from C1 to C3 consistent with syringomyelia and cord edema. The patient underwent suboccipital craniectomy with removal of the posterior arch of C1 and dural patch graft. His postoperative course was unremarkable, with complete resolution of his symptoms at his 1-month follow-up visit. This case highlights an unusual presentation of CM-I with neurological deficit related to spinal cord edema, possibly precipitated by the "water-hammer" effect of this patient's coughing fits. Providers should be aware of the acute presentations of CM-I. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Chiari-like displacement due to spontaneous intracranial hypotension in an adolescent: Successful treatment by epidural blood patch.

    PubMed

    Schönberger, Jan; Möhlenbruch, Markus; Seitz, Angelika; Bußmann, Cornelia; Bächli, Heidi; Kölker, Stefan

    2017-07-01

    Spontaneous intracranial hypotension is a rarely diagnosed cause of headache, especially in children and adolescents. It is due to cerebrospinal fluid (CSF) leakage via spinal fistulae occurring without major trauma. An adolescent patient presented with a 3-month history of strictly postural headache. Cranial magnetic resonance imaging (MRI) showed pronounced Chiari-like prolapse of the cerebellar tonsils, narrow ventricles and enlarged cerebral veins. On spinal MRI, myelographic sequences revealed a large collection of CSF around the first sacral roots. CT myelography proved extensive spinal CSF leakage. Hence, we applied epidural patches at multiple levels. Afterwards, symptoms and radiologic findings, including Chiari-like displacement, completely resolved. A Chiari-like descent of the cerebellar tonsils alone does not secure the diagnosis of a Chiari I malformation. Especially if other findings indicate spinal CSF leakage, a systematic work-up should be initiated. In most cases, interventional techniques seal the leak successfully, resulting in a favorable outcome. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  12. Chiari Malformation Type 1: A Systematic Review of Natural History and Conservative Management.

    PubMed

    Langridge, Benjamin; Phillips, Edward; Choi, David

    2017-08-01

    Chiari malformation type 1 (CM-1) is a variation of hindbrain development that can sometimes occur in asymptomatic individuals. Conventional treatment is surgical decompression, but little is known about the natural history of patients who do not undergo surgical management. This information is critical to determine how these patients should be managed. We conducted a systematic literature review to determine the natural history of CM-1, particularly in patients who did not undergo surgery and in asymptomatic individuals, to help patients and physicians determine when surgery is likely to be beneficial. The literature search was performed following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines using the electronic databases PubMed, Scopus, Cochrane Library, and Web of Science. Inclusion and exclusion criteria were predefined. In symptomatic patients who did not undergo surgery, headaches and nausea often improved, whereas ataxia and sensory disturbance tended not to improve spontaneously. Of patients, 27%-47% had an improvement in symptoms after 15 months, and 37%-40% with cough headache and 89% with nausea who were managed nonoperatively improved at follow-up. Most asymptomatic individuals with CM-1 remained asymptomatic (93.3%) even in the presence of syringomyelia. The natural history of mild symptomatic and asymptomatic CM-1 in adults is relatively benign and nonprogressive; the decision to perform surgical decompression should be based on severity and duration of a patient's symptoms at presentation. It is reasonable to observe a patient with mild or asymptomatic symptoms even in the presence of significant tonsillar descent or syringomyelia. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Hospitalization Cost Model of Pediatric Surgical Treatment of Chiari Type 1 Malformation.

    PubMed

    Lam, Sandi K; Mayer, Rory R; Luerssen, Thomas G; Pan, I Wen

    2016-12-01

    To develop a cost model for hospitalization costs of surgery among children with Chiari malformation type 1 (CM-1) and to examine risk factors for increased costs. Data were extracted from the US National Healthcare Cost and Utilization Project 2009 Kids' Inpatient Database. The study cohort was comprised of patients aged 0-20 years who underwent CM-1 surgery. Patient charges were converted to costs by cost-to-charge ratios. Simple and multivariable generalized linear models were used to construct cost models and to determine factors associated with increased hospital costs of CM-1 surgery. A total of 1075 patients were included. Median age was 11 years (IQR 5-16 years). Payers included public (32.9%) and private (61.5%) insurers. Median wage-adjusted cost and length-of-stay for CM-1 surgery were US $13 598 (IQR $10 475-$18 266) and 3 days (IQR 3-4 days). Higher costs were found at freestanding children's hospitals: average incremental-increased cost (AIIC) was US $5155 (95% CI $2067-$8749). Factors most associated with increased hospitalization costs were patients with device-dependent complex chronic conditions (AIIC $20 617, 95% CI $13 721-$29 026) and medical complications (AIIC $13 632, 95% CI $7163-$21 845). Neurologic and neuromuscular, metabolic, gastrointestinal, and other congenital genetic defect complex chronic conditions were also associated with higher hospital costs. This study examined cost drivers for surgery for CM-1; the results may serve as a starting point in informing the development of financial risk models, such as bundled payments or prospective payment systems for these procedures. Beyond financial implications, the study identified specific risk factors associated with increased costs. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. The prevalence of intraspinal anomalies in infantile and juvenile patients with "presumed idiopathic" scoliosis: a MRI-based analysis of 504 patients.

    PubMed

    Zhang, Wen; Sha, Shifu; Xu, Leilei; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

    2016-04-27

    Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aimed to investigate the prevalence and distribution of intraspinal anomalies in the infantile and juvenile patients with "presumed idiopathic" scoliosis and to explore the radiographic and clinical indicators with large sample size. A total of 504 infantile and juvenile patients diagnosed with "presumed idiopathic" scoliosis were examined for potentially-existing neural axis abnormalities by MRI. Patients were grouped into two cohorts according to the presence of neural axis abnormalities. Radiographic parameters including curve magnitude, curve pattern, location of apex, degree of thoracic kyphosis, and span of curve were recorded and compared between the two groups. The prevalence of the neural abnormalities between the infantile-age group and juvenile-age group was also compared. The student t test was used to evaluate the differences of continuous variables and the chi-square test was used to evaluate the difference of categorical variables. Fisher exact test was applied to detect the difference of the rate of intraspinal anomalies between the "infantile idiopathic scoliosis" and "juvenile idiopathic scoliosis" group. Involving the spinal cord, 94 patients (18.7%) were found to have a neural abnormality: Arnold-Chiari malformation alone in 43 patients, Arnold-Chiari malformation combined with syringomyelia in 18 patients, isolated syringomyelia in 13 patients, diastematomyelia in six patients, tethered cord combined with diastematomyelia in six patients, tethered cord alone in four patients, and other uncommon intraspinal abnormalities in the remaining four patients. Totally Arnold-Chiari

  15. The association between Chiari malformation Type I, spinal syrinx, and scoliosis.

    PubMed

    Strahle, Jennifer; Smith, Brandon W; Martinez, Melaine; Bapuraj, J Rajiv; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2015-06-01

    OBJECT Chiari malformation Type I (CM-I) is often found in patients with scoliosis. Most previous reports of CM-I and scoliosis have focused on patients with CM-I and a spinal syrinx. The relationship between CM-I and scoliosis in the absence of a syrinx has never been defined clearly. The authors sought to determine if there is an independent association between CM-I and scoliosis when controlling for syrinx status. METHODS The medical records of 14,118 consecutive patients aged ≤ 18 years who underwent brain or cervical spine MRI at a single institution in an 11-year span were reviewed to identify patients with CM-I, scoliosis, and/or syrinx. The relationship between CM-I and scoliosis was analyzed by using multivariate regression analysis and controlling for age, sex, CM-I status, and syrinx status. RESULTS In this cohort, 509 patients had CM-I, 1740 patients had scoliosis, and 243 patients had a spinal syrinx. The presence of CM-I, the presence of syrinx, older age, and female sex were each significantly associated with scoliosis in the univariate analysis. In the multivariate regression analysis, older age (OR 1.02 [95% CI 1.01-1.03]; p < 0.0001), female sex (OR 1.71 [95% CI 1.54-1.90]; p < 0.0001), and syrinx (OR 9.08 [95% CI 6.82-12.10]; p < 0.0001) were each independently associated with scoliosis. CM-I was not independently associated with scoliosis when controlling for these other variables (OR 0.99 [95% CI 0.79-1.29]; p = 0.9). CONCLUSIONS A syrinx was independently associated with scoliosis in a large pediatric population undergoing MRI. CM-I was not independently associated with scoliosis when controlling for age, sex, and syrinx status. Because CM-I is not independently associated with scoliosis, scoliosis should not necessarily be considered a symptom of low cerebellar tonsil position in patients without a syrinx.

  16. Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

    PubMed

    Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

    2017-01-01

    Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

  17. Magnetic resonance imaging-based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I: a pilot study.

    PubMed

    Alperin, Noam; Loftus, James Ryan; Bagci, Ahmet M; Lee, Sang H; Oliu, Carlos J; Shah, Ashish H; Green, Barth A

    2017-01-01

    OBJECTIVE This study identifies quantitative imaging-based measures in patients with Chiari malformation Type I (CM-I) that are associated with positive outcomes after suboccipital decompression with duraplasty. METHODS Fifteen patients in whom CM-I was newly diagnosed underwent MRI preoperatively and 3 months postoperatively. More than 20 previously described morphological and physiological parameters were derived to assess quantitatively the impact of surgery. Postsurgical clinical outcomes were assessed in 2 ways, based on resolution of the patient's chief complaint and using a modified Chicago Chiari Outcome Scale (CCOS). Statistical analyses were performed to identify measures that were different between the unfavorable- and favorable-outcome cohorts. Multivariate analysis was used to identify the strongest predictors of outcome. RESULTS The strongest physiological parameter predictive of outcome was the preoperative maximal cord displacement in the upper cervical region during the cardiac cycle, which was significantly larger in the favorable-outcome subcohorts for both outcome types (p < 0.05). Several hydrodynamic measures revealed significantly larger preoperative-to-postoperative changes in the favorable-outcome subcohort. Predictor sets for the chief-complaint classification included the cord displacement, percent venous drainage through the jugular veins, and normalized cerebral blood flow with 93.3% accuracy. Maximal cord displacement combined with intracranial volume change predicted outcome based on the modified CCOS classification with similar accuracy. CONCLUSIONS Tested physiological measures were stronger predictors of outcome than the morphological measures in patients with CM-I. Maximal cord displacement and intracranial volume change during the cardiac cycle together with a measure that reflects the cerebral venous drainage pathway emerged as likely predictors of decompression outcome in patients with CM-I.

  18. Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation.

    PubMed

    Badie, B; Mendoza, D; Batzdorf, U

    1995-08-01

    Smaller posterior fossa (PF) volume has been suggested to be one of the mechanisms responsible for tonsillar herniation through the foramen magnum in patients with Chiari I malformation (CM I). Although previous radiological analyses of the cranial anatomy have suggested a smaller PF volume in patients with CM I, the relationship of the PF volume to decompressive surgery has not been reported. We have measured the ratio of PF volume to supratentorial volume (PF ratio [PFR]) in 20 patients with CM I and 20 control patients by retrospectively studying their magnetic resonance images with a computerized image analyzer. The mean PFR in patients with CM I (with or without syringomyelia) was significantly smaller than for those in the control group (15.6 +/- 1.9 versus 17.5 +/- 1.2, P = 0.0008). Although PFR did not correlate with the extent of tonsillar herniation in patients with CM I, it did directly correlate with their age, i.e., younger patients with CM I (but not control patients) had smaller PFRs. All but three patients responded both clinically and radiographically to decompressive surgery. Those patients who did not benefit from surgical intervention had normal PFRs. We conclude that: 1) PFRs are smaller in most patients with CM I; 2) a smaller PF may be a primary cause of tonsillar herniation; 3) patients with CM I who have smaller PFRs tend to develop symptoms earlier than those with normal values; 4) patients with smaller PFRs tend to respond better to suboccipital decompression.

  19. Atypical cerebellar slump syndrome and external hydrocephalus following craniocervical decompression for Chiari I malformation: case report.

    PubMed

    Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S

    2014-01-01

    Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case.

  20. Atypical Cerebellar Slump Syndrome and External Hydrocephalus following Craniocervical Decompression for Chiari I Malformation: Case Report

    PubMed Central

    THAKAR, Sumit; DADLANI, Ravi; TAWARI, Manish; HEGDE, Alangar S

    2014-01-01

    Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499

  1. Trends in surgical treatment of Chiari malformation Type I in the United States.

    PubMed

    Wilkinson, D Andrew; Johnson, Kyle; Garton, Hugh J L; Muraszko, Karin M; Maher, Cormac O

    2017-02-01

    OBJECTIVE The goal of this analysis was to define temporal and geographic trends in the surgical treatment of Chiari malformation Type I (CM-I) in a large, privately insured health care network. METHODS The authors examined de-identified insurance claims data from a large, privately insured health care network of over 58 million beneficiaries throughout the United States for the period between 2001 and 2014 for all patients undergoing surgical treatment of CM-I. Using a combination of International Classification of Diseases (ICD) diagnosis codes and Current Procedural Terminology (CPT) codes, the authors identified CM-I and associated diagnoses and procedures over a 14-year period, highlighting temporal and geographic trends in the performance of CM-I decompression (CMD) surgery as well as commonly associated procedures. RESULTS There were 2434 surgical procedures performed for CMD among the beneficiaries during the 14-year interval; 34% were performed in patients younger than 20 years of age. The rate of CMD increased 51% from the first half to the second half of the study period among younger patients (p < 0.001) and increased 28% among adult patients between 20 and 65 years of age (p < 0.001). A large sex difference was noted among adult patients; 78% of adult patients undergoing CMD were female compared with only 53% of the children. Pediatric patients undergoing CMD were more likely to be white with a higher household net worth. Regional variability was identified among rates of CMD as well. The average annual rate of surgery ranged from 0.8 surgeries per 100,000 insured person-years in the Pacific census division to 2.0 surgeries per 100,000 insured person-years in the East South Central census division. CONCLUSIONS Analysis of a large nationwide health care network showed recently increasing rates of CMD in children and adults over the past 14 years.

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

    PubMed Central

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

    2013-01-01

    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

  3. Asymptomatic Chiari Type I malformation: should patients be advised against participation in contact sports?

    PubMed

    Spencer, Robert; Leach, Paul

    2017-08-01

    Chiari type I malformation (CM-I) is characterised by caudal displacement of the cerebellar tonsils through the foramen magnum, crowding the craniocervical junction. It is being increasingly diagnosed in asymptomatic patients due to the widespread availability of MRI, and there are case reports of these patients suffering sudden death or neurological injury following head or neck trauma, raising the issue of whether they should be prohibited from contact sport participation, given the likelihood of frequent trauma. General neurosurgical opinion is that patients who are symptomatic and those with an associated spinal cord syrinx should be offered foramen magnum decompression, however asymptomatic patients without syringomyelia are not offered this in the majority of cases. The authors performed a full review of the published literature, including all case reports, case series, studies and literature reviews regarding CM-I and either contact sports or trauma, excluding patients that had undergone surgical intervention and those becoming symptomatic in circumstances other than head or neck trauma. 21 case reports of CM-I patients deteriorating following trauma were identified, including four cases of sudden death following head or neck injury. However, studies of large samples of CM-I patients are yet to capture an incident of sudden death or acute neurological deterioration, suggesting that the risk is very low. CM-I patients may have an increased risk of concussion and post-concussion syndrome compared to the background population however. Overall, the authors feel that there should be no restriction of sports participation for CM-I patients, but a discussion to make them and their families aware of the possible increased risks is important.

  4. Clinical evidence for cervical myelopathy due to Chiari malformation and spinal stenosis in a non-randomized group of patients with the diagnosis of fibromyalgia.

    PubMed

    Heffez, Dan S; Ross, Ruth E; Shade-Zeldow, Yvonne; Kostas, Konstantinos; Shah, Sagar; Gottschalk, Robert; Elias, Dean A; Shepard, Alan; Leurgans, Sue E; Moore, Charity G

    2004-10-01

    While patients with fibromyalgia report symptoms consistent with cervical myelopathy, a detailed neurological evaluation is not routine. We sought to determine if patients with fibromyalgia manifest objective neurological signs of cervical myelopathy. Two hundred and seventy patients, 18 years and older, who carried the diagnosis of fibromyalgia but who had no previously recognized neurological disease underwent detailed clinical neurological and neuroradiological evaluation for the prevalence of objective evidence of cervical myelopathy and radiological evidence of cerebellar tonsillar herniation (Chiari 1 malformation) or cervical spinal canal stenosis. Patients were primarily women (87%), of mean age 44 years, who had been symptomatic for 8 years (standard deviation, 6.3 years). The predominant complaints were neck/back pain (95%), fatigue (95%), exertional fatigue (96%), cognitive impairment (92%), instability of gait (85%), grip weakness (83%), paresthesiae (80%), dizziness (71%) and numbness (69%). Eighty-eight percent of patients reported worsening symptoms with neck extension. The neurological examination was consistent with cervical myelopathy: upper thoracic spinothalamic sensory level (83%), hyperreflexia (64%), inversion of the radial periosteal reflex (57%), positive Romberg sign (28%), ankle clonus (25%), positive Hoffman sign (26%), impaired tandem walk (23%), dysmetria (15%) and dysdiadochokinesia (13%). MRI and contrast-enhanced CT imaging of the cervical spine revealed stenosis. The mean antero-posterior (AP) spinal canal diameter at C2/3, C3/4, C4/5, C5/6, C6/7 and C7/T1 was 13.5 mm, 11.8 mm, 11.5 mm, 10.4 mm, 11.3 mm and 14.5 mm respectively, (CT images). In 46% of patients, the AP spinal diameter at C5/6 measured 10 mm, or less, with the neck positioned in mild extension, i.e., clinically significant spinal canal stenosis. MRI of the brain revealed tonsillar ectopia >5 mm in 20% of patients (mean=7.1+/-1.8 mm), i.e., Chiari 1 malformation

  5. Are Herniated Cerebellar Tonsils the Main Culprit of Chiari Malformation Type I Symptoms? The Brainstem Compression Hypothesis seems to be Re-Elucidated and Revised.

    PubMed

    Selcuki, Mehmet; Mete, Mesut; Selcuki, Deniz

    2018-01-01

    The Chiari Malformation I (CM I) and the tethered cord syndrome (TCS) are both congenital abnormalities whose mechanisms are still not fully understood. The association of CM I and TCS has been reported only a few times previously. This retrospective study included 7 patients who were diagnosed with CM I and TCS, managed by cutting of the filum terminale. The mean follow-up period was 21 months and 28 days. Although all patients underwent an untethering surgical procedure by cutting the filum terminale only, all patients reported significant early postsurgical resolution of CM I symptoms and symptoms related to TCS as well. Patients with symptomatic CM I, even if lumbar MRI is normal and the patient asymptomatic for TCS, may have tethered spinal cord at the same time. It seems it would be worthwhile to investigate CM I patients for occult TCS with spinal somatosensory evoked potentials.

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

    PubMed Central

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

    2014-01-01

    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

  7. Odontoid process inclination in normal adults and in an adult population with Chiari malformation Type I.

    PubMed

    Besachio, David A; Khaleel, Ziyad; Shah, Lubdha M

    2015-12-01

    Posterior odontoid process inclination has been demonstrated as a factor associated with Chiari malformation Type I (CM-I) in the pediatric population; however, no studies to date have examined this measurement in the adult CM-I population. The purpose of this study was to evaluate craniocervical junction (CCJ) measurements in adult CM-I versus a control group. The odontoid retroflexion, odontoid retroversion, odontoid height, posterior basion to C-2 line measured to the dural margin (pB-C2 line), posterior basion to C-2 line measured to the dorsal odontoid cortical margin (pB-C2* line), and clivus-canal angle measurements were retrospectively analyzed in adult patients with CM-I using MRI. These measurements were compared with normative values established from CT scans of the cervical spine in adults without CM-I. A statistically significant difference was found between 55 adults with CM-I and 150 sex-matched controls (125 used for analysis) in the mean clivus-canal angle and the mean pB-C2 line. These data suggest that there are sex-specific differences with respect to measurements at the CCJ between men and women, with women showing a more posteriorly inclined odontoid process. There were also differences between the CM-I and control groups: a more acute clivus-canal angle was associated with CM-I in the adult population. These CCJ findings could have an influence on presurgical planning.

  8. International survey on the management of Chiari 1 malformation and syringomyelia: evolving worldwide opinions.

    PubMed

    Singhal, Ash; Cheong, Alexander; Steinbok, Paul

    2018-03-12

    In 2003, pediatric neurosurgeons were surveyed under the auspices of the education committee of the International Society for Pediatric Neurosurgery (ISPN) to determine prevailing opinions regarding the management of Chiari I malformation (C1M) with and without associated syringomyelia. In the ensuing years, there has been further information from multiple C1M studies, with regards to indications, success rates of different surgical interventions, and complications. The purpose of this study was to re-evaluate current opinions and practices in pediatric C1M. Pediatric neurosurgeons worldwide were surveyed, using an e-mail list provided by the ISPN communication committee chairperson. Respondents were given scenarios similar to the 2003 C1M survey in order to determine opinions regarding whether to surgically intervene, and if so, with which operations. Of 300 surveys electronically distributed, 122 responses were received (40.6% response rate)-an improvement over the 30.8% response rate in 2003. Pediatric neurosurgeons from 34 different countries responded. There was broad consensus that non-operative management is appropriate in asymptomatic C1M (> 90%) as well as asymptomatic C1M with a small syrinx (> 65%). With a large syrinx, a majority (almost 80%) recommended surgical intervention. Scoliotic patients with CIM were generally offered surgery only when there was a large syrinx. There has been a shift in the surgical management over the past decade, with a bone-only decompression now being offered more commonly. There remains, however, great variability in the operation offered. This survey, with a relatively strong response rate, and with broad geographic representation, summarizes current worldwide expert opinion regarding management of pediatric C1M. Asymptomatic C1M and C1M with a small syrinx are generally managed non-operatively. When an operation is indicated, there has been a shift towards less invasive surgical approaches.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

    2014-01-01

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

  11. Impact of body mass index on cerebellar tonsil position in healthy subjects and patients with Chiari malformation.

    PubMed

    Smith, Brandon W; Strahle, Jennifer; Kazarian, Erick; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2015-07-01

    It is unclear if there is a relationship between Chiari malformation Type I (CM-I) and body mass index (BMI). The aim of this study was to identify the relationship between BMI and cerebellar tonsil position in a random sample of people. Cerebellar tonsil position in 2400 subjects from a cohort of patients undergoing MRI was measured. Three hundred patients were randomly selected from each of 8 age groups (from 0 to 80 years). A subject was then excluded if he or she had a posterior fossa mass or previous posterior fossa decompression or if height and weight information within 1 year of MRI was not recorded in the electronic medical record. There were 1310 subjects (54.6%) with BMI records from within 1 year of the measured scan. Of these subjects, 534 (40.8%) were male and 776 (59.2%) were female. The average BMI of the group was 26.4 kg/m(2), and the average tonsil position was 0.87 mm above the level of the foramen magnum. There were 46 subjects (3.5%) with a tonsil position ≥ 5 mm below the level of the foramen magnum. In the group as a whole, there was no correlation (R(2) = 0.004) between BMI and cerebellar tonsil position. In this examination of 1310 subjects undergoing MRI for any reason, there was no relationship between BMI and the level of the cerebellar tonsils or the diagnosis of CM-I on imaging.

  12. Sleep-Related Breathing Disorders in Chiari Malformation Type 1: A Prospective Study of 90 Patients.

    PubMed

    Ferré, Álex; Poca, Maria A; de la Calzada, Maria D; Moncho, Dulce; Romero, Odile; Sampol, Gabriel; Sahuquillo, Juan

    2017-06-01

    The aim of the present study is to describe the prevalence of sleep disorders in a large group of patients with Chiari malformation type 1 (CM-1) and determine the presence of risk factors associated with these abnormalities. Prospective study with consecutive patient selection. We included 90 adult patients with CM-1, defined by the presence of a cerebellar tonsillar descent (TD) ≥3 mm. Clinical, neuroradiological studies, and nocturnal polysomnography (PSG) was carried out. In addition, patients were also subclassified into 2 CM subtypes: CM-1, with the obex above the foramen magnum (FM) and CM-1.5, in which along with a TD ≥3 mm, the obex was located below the FM. We observed a high prevalence (50%) of sleep-related breathing disorders (SRBDs) with predominant hypopnea. Only six patients showed a central apnea index of ≥5. Hypoventilation was observed in only three patients. SRBD severity was associated with male sex, older age, excess weight, and the presence of hydrocephalus. No differences in clinical or PSG parameters were found when comparing CM subtypes (CM-1 and CM-1.5). Sleep architecture study showed decreased sleep efficiency with an increase in arousal and waking after sleep onset. The presence of SRBDs was found to be associated with poorer sleep architecture parameters. This study confirms a high prevalence of SRBDs in patients with CM-1 and CM-1.5, with a predominant obstructive component. Nocturnal PSG recordings should be systematically conducted in these patients, especially those who are male, older, or overweight or those who present hydrocephalus. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  13. Dogs attending primary-care practice in England with clinical signs suggestive of Chiari-like malformation/syringomyelia.

    PubMed

    Sanchis-Mora, S; Pelligand, L; Thomas, C L; Volk, H A; Abeyesinghe, S M; Brodbelt, D C; Church, D B; Thomson, P C; McGreevy, P D; O'Neill, D G

    2016-10-29

    Chiari-like malformation/syringomyelia (CM/SM) in dogs describes a developmental disorder that can cause pain and reduced quality of life. This retrospective study aimed to report the period prevalence, clinical signs and risk factors for diagnosis of symptomatic CM/SM in the veterinary primary-care setting using a cross-sectional design. The study population included all dogs within the VetCompass Programme (September 1, 2009-June 13, 2014). Overall, the period prevalence of symptomatic CM/SM was 0.05 per cent (95 per cent CI 0.04 per cent to 0.06 per cent) for all breeds. The period prevalence in the Cavalier King Charles Spaniel (CKCS) was 1.6 per cent (95 per cent CI 1.2 to 2.06). Other breeds at increased odds included the King Charles Spaniel (KCS), Affenpinscher, Chihuahua and Pomeranian. Insured dogs had 4.6 times the odds (95 per cent CI 2.95 to 7.17) of having a diagnosis of CM/SM compared with uninsured dogs. Pain was the most commonly associated clinical sign (67 dogs, 72 per cent). Analgesics were prescribed to 72 (77.4 per cent) of the symptomatic dogs. Despite its low overall period prevalence, the high proportion of affected dogs identified with chronic pain suggests a significant welfare issue. Financial implications could impede the diagnostic process and lead to underestimation of the true prevalence. This study may help to inform clinicians about the clinical relevance and the need for improved awareness of clinical signs, particularly in high-risk breeds, to optimise the management of CM/SM in primary-care practice. British Veterinary Association.

  14. Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

    PubMed

    Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

    2017-01-01

    Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

    PubMed Central

    Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

    2006-01-01

    Background Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. Methods A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Results Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Conclusion Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment. PMID:17196099

  16. Risk factors for pressure sores in adult patients with myelomeningocele--a questionnaire-based study.

    PubMed

    Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

    2006-12-29

    Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment.

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

    PubMed

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

    2015-02-01

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

  18. Developments in the treatment of Chiari type 1 malformations over the past decade

    PubMed Central

    Pyne, Alexandra; Horn, Samantha R.; Poorman, Gregory W.; Janjua, Muhammad B.; Vasquez-Montes, Dennis; Bortz, Cole A.; Segreto, Frank A.; Frangella, Nicholas J.; Siow, Matthew Y.; Sure, Akhila; Zhou, Peter L.; Moon, John Y.; Diebo, Bassel G.; Vira, Shaleen N.

    2018-01-01

    Background Chiari malformations type 1 (CM-1), a developmental anomaly of the posterior fossa, usually presents in adolescence or early adulthood. There are few studies on the national incidence of CM-1, taking into account outcomes based on concurrent diagnoses. To quantify trends in treatment and associated diagnoses, as retrospective review of the Kid’s Inpatient Database (KID) from 2003-2012 was conducted. Methods Patients aged 0–20 with primary diagnosis of CM-1 in the KID database were identified. Demographics and concurrent diagnoses were analyzed using chi-squared and t-tests for categorical and numerical variables, respectively. Trends in diagnosis, treatments, and outcomes were analyzed using analysis of variance (ANOVA). Results Five thousand four hundred and thirty-eight patients were identified in the KID database with a primary diagnosis of CM-1 (10.5 years, 55% female). CM-1 primary diagnoses have increased over time (45 to 96 per 100,000). CM-1 patients had the following concurrent diagnoses: 23.8% syringomyelia/syringobulbia, 11.5% scoliosis, 5.9% hydrocephalus, 2.2% tethered cord syndrome. Eighty-three point four percent of CM-1 patients underwent surgical treatment, and rate of surgical treatment for CM-1 increased from 2003–2012 (66% to 72%, P<0.001) though complication rate decreased (7% to 3%, P<0.001) and mortality rates remained constant. Seventy percent of surgeries involved decompression-only, which increased neurologic complications compared to fusions (P=0.039). Cranial decompressions decreased from 2003–2012 (42.2–30.5%) while spinal decompressions increased (73.1–77.4%). Fusion rates have increased over time (0.45% to 1.8%) and are associated with higher complications than decompression-only (11.9% vs. 4.7%). Seven point four percent of patients experienced at least one peri-operative complication (nervous system, dysphagia, respiratory most common). Patients with concurrent hydrocephalus had increased; nervous system

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

    PubMed Central

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

    2015-01-01

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

  20. Cerebrospinal fluid velocity amplitudes within the cerebral aqueduct in healthy children and patients with Chiari I malformation.

    PubMed

    Bapuraj, J Rajiv; Londy, Frank J; Delavari, Nader; Maher, Cormac O; Garton, Hugh J L; Martin, Bryn A; Muraszko, Karin M; Ibrahim, El-Sayed H; Quint, Douglas J

    2016-08-01

    To assess the effects of cerebrospinal fluid (CSF) bidirectional motion in Chiari malformation type I (CMI), we monitored CSF velocity amplitudes on phase contrast MRI (PC-MRI) in patients before and after surgery; and in healthy volunteers. 10 pediatric volunteers and 10 CMI patients participated in this study. CMI patients underwent PC-MRI scans before and approximately 14 months following surgery. Two parameters-amplitude of mean velocity (AMV) and amplitude of peak velocity (APV) of CSF-were derived from the data. Measurements were made at the mid-portion of the cerebral aqueduct, and anterior and posterior compartments of the spinal canal at the craniovertebral junction (CVJ). AMV and APV within the cerebral aqueduct were greater in preoperative assessments of the CMI patients compared to normal volunteers. Statistical significance was noted when comparing aqueductal AMV between the preoperative values and normal controls (P = 0.03), and before and after surgery in the CMI patients (P = 0.02). Lower values of AMV (P = 0.02) were noted in the anterior CVJ compartment in the patients before and after surgery when compared to the normal volunteers. There were no significant correlations (P = 0.06) noted for the APV at the CVJ between the normal control and patients, before or after surgery. In pediatric CMI patients, AMV for CSF within the cerebral aqueduct and anterior CVJ subarachnoid space are significantly elevated preoperatively and normalize following surgery. Given the biphasic CSF motion, measuring amplitude accounts for cranial and caudal flow. It may offer an alternative parameter to assess postsurgical outcome. J. Magn. Reson. Imaging 2016;44:463-470. © 2016 Wiley Periodicals, Inc.

  1. Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale☆

    PubMed Central

    Milhorat, Thomas H.; Bolognese, Paolo A.; Nishikawa, Misao; Francomano, Clair A.; McDonnell, Nazli B.; Roonprapunt, Chan; Kula, Roger W.

    2018-01-01

    ) revealed upward migration of the CMD (mean, 5.1 mm, P < .001), ascent of the cerebellar tonsils (mean, 3.8 mm, P < .001), reduction of brain stem length (mean, 3.9 mm, P < .001), and improvement of scoliosis or syringomyelia in some cases. Conclusions Chiari malformation type I/TCS appears to be a unique clinical entity that occurs as a continuum with LLCT/TCS and is distinguished from generic CM-I by enlargement of the FM and the absence of a small PCF. Distinctive features include elongation and downward displacement of the hindbrain, normal position of the CMD, tight FT, and reduced CSF flow in the lumbar theca. There is preliminary evidence that SFT can reverse moderate degrees of tonsillar ectopia and is appropriate treatment for cerebellar ptosis after Chiari surgery in this cohort. PMID:19559924

  2. Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

    PubMed

    Markunas, Christina A; Tubbs, R Shane; Moftakhar, Roham; Ashley-Koch, Allison E; Gregory, Simon G; Oakes, W Jerry; Speer, Marcy C; Iskandar, Bermans J

    2012-04-01

    Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role

  3. Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations

    PubMed Central

    Markunas, Christina A.; Tubbs, R. Shane; Moftakhar, Roham; Ashley-Koch, Allison E.; Gregory, Simon G.; Oakes, W. Jerry; Speer, Marcy C.; Iskandar, Bermans J.

    2012-01-01

    Object Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Methods Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Results Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. Conclusions There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors

  4. Comparison of posterior fossa volumes and clinical outcomes after decompression of Chiari malformation Type I.

    PubMed

    Khalsa, Siri Sahib S; Siu, Alan; DeFreitas, Tiffani A; Cappuzzo, Justin M; Myseros, John S; Magge, Suresh N; Oluigbo, Chima O; Keating, Robert F

    2017-05-01

    OBJECTIVE Previous studies have indicated an association of Chiari malformation Type I (CM-I) and a small posterior fossa. Most of these studies have been limited by 2D quantitative methods, and more recent studies utilizing 3D methodologies are time-intensive with manual segmentation. The authors sought to develop a more automated tool to calculate the 3D posterior fossa volume, and correlate its changes after decompression with surgical outcomes. METHODS A semiautomated segmentation program was developed, and used to compare the pre- and postoperative volumes of the posterior cranial fossa (PCF) and the CSF spaces (cisterna magna, prepontine cistern, and fourth ventricle) in a cohort of pediatric patients with CM-I. Volume changes were correlated with postoperative symptomatic improvements in headache, syrinx, tonsillar descent, cervicomedullary kinking, and overall surgical success. RESULTS Forty-two pediatric patients were included in this study. The mean percentage increase in PCF volume was significantly greater in patients who showed clinical improvement versus no improvement in headache (5.89% vs 1.54%, p < 0.05) and tonsillar descent (6.52% vs 2.57%, p < 0.05). Overall clinical success was associated with a larger postoperative PCF volume increase (p < 0.05). These clinical improvements were also significantly associated with a larger increase in the volume of the cisterna magna (p < 0.05). The increase in the caudal portion of the posterior fossa volume was also larger in patients who showed improvement in syrinx (6.63% vs 2.58%, p < 0.05) and cervicomedullary kinking (9.24% vs 3.79%, p < 0.05). CONCLUSIONS A greater increase in the postoperative PCF volume, and specifically an increase in the cisterna magna volume, was associated with a greater likelihood of clinical improvements in headache and tonsillar descent in patients with CM-I. Larger increases in the caudal portion of the posterior fossa volume were also associated with a greater likelihood of

  5. Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

    PubMed

    Sardhara, Jayesh; Pavaman, Sindgikar; Das, Kuntal; Srivastava, Arun; Mehrotra, Anant; Behari, Sanjay

    2016-11-01

    Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature. We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration. A computed tomography scan of the cervical spine including the craniovertebral junction revealed spondylolisthesis of C2 over C3, atlantoaxial dislocation, occipitalization of the atlas, hypoplasia of the odontoid, and cleft posterior C1 arch. Additionally, the axis vertebra was found devoid of its posterior elements except bilaterally rudimentary pedicles. Magnetic resonance imaging revealed tonsilar herniation, suggesting associated Chiari type I malformation. CT angiogram of the vertebral arteries displayed persistent bilateral first intersegmental arteries crossing the posterior aspect of the C1/2 facet joint. This patient underwent foramen magnum decompression, C3 laminectomy with occipito-C3/C4 posterior fusion using screw and rod to maintain the cervical alignment and stability. We report this rare constellation of congenital craniovertebral junction anomaly and review the relevant literature. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Chiari type 1 malformation associated with central sleep apnea after high dose growth hormone (GH) therapy in a 12-year-old boy: A case report

    PubMed Central

    Mori, Toshihiko; Nishino, Eri; Jitsukawa, Tomomi; Hoshino, Emiko; Hirakawa, Satoshi; Kuroiwa, Yuki; Fuse, Shigeto; Yoto, Yuko; Tsutsumi, Hiroyuki

    2018-01-01

    Abstract. We describe the case of a short-statured 12-yr-old boy who developed a Chiari type 1 malformation associated with central sleep apnea after administration of high-dose GH therapy, which he had been receiving since the age of 10 yr and 4 mo. He responded well to GH therapy, and his height increased by 18.8 cm in 2 yr. At 12 yr and 4 mo of age, his mother reported that he had developed sleep apnea during the previous year and it had worsened over a month prior to presentation at our hospital. Otolaryngological examination did not reveal tonsillar or adenoidal hypertrophy. Polysomnography demonstrated severe central sleep apnea with an apnea-hypopnea index of 46.5/h. Sagittal T1-weighted magnetic resonance imaging (MRI) demonstrated herniation of the cerebellar tonsils 15 mm below the foramen magnum into the cervical spinal cord. Continuous positive airway pressure therapy initiated prior to performing neurosurgery was ineffective. Following uncomplicated foramen magnum decompression, his breathing pattern during sleep returned to normal. Sagittal MRI examination should be considered in patients who develop sleep apnea during/following administration of GH therapy. PMID:29403156

  7. Conquer Chiari

    MedlinePlus

    ... partnered with the University of Maryland Brain and Tissue Bank to establish a procedure for interested patients to register with the tissue bank using a special code created for Conquer Chiari. ...

  8. Validation of an International Classification of Diseases, Ninth Revision Code Algorithm for Identifying Chiari Malformation Type 1 Surgery in Adults.

    PubMed

    Greenberg, Jacob K; Ladner, Travis R; Olsen, Margaret A; Shannon, Chevis N; Liu, Jingxia; Yarbrough, Chester K; Piccirillo, Jay F; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

    2015-08-01

    The use of administrative billing data may enable large-scale assessments of treatment outcomes for Chiari Malformation type I (CM-1). However, to utilize such data sets, validated International Classification of Diseases, Ninth Revision (ICD-9-CM) code algorithms for identifying CM-1 surgery are needed. To validate 2 ICD-9-CM code algorithms identifying patients undergoing CM-1 decompression surgery. We retrospectively analyzed the validity of 2 ICD-9-CM code algorithms for identifying adult CM-1 decompression surgery performed at 2 academic medical centers between 2001 and 2013. Algorithm 1 included any discharge diagnosis code of 348.4 (CM-1), as well as a procedure code of 01.24 (cranial decompression) or 03.09 (spinal decompression, or laminectomy). Algorithm 2 restricted this group to patients with a primary diagnosis of 348.4. The positive predictive value (PPV) and sensitivity of each algorithm were calculated. Among 340 first-time admissions identified by Algorithm 1, the overall PPV for CM-1 decompression was 65%. Among the 214 admissions identified by Algorithm 2, the overall PPV was 99.5%. The PPV for Algorithm 1 was lower in the Vanderbilt (59%) cohort, males (40%), and patients treated between 2009 and 2013 (57%), whereas the PPV of Algorithm 2 remained high (≥99%) across subgroups. The sensitivity of Algorithms 1 (86%) and 2 (83%) were above 75% in all subgroups. ICD-9-CM code Algorithm 2 has excellent PPV and good sensitivity to identify adult CM-1 decompression surgery. These results lay the foundation for studying CM-1 treatment outcomes by using large administrative databases.

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

    PubMed Central

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

    2013-01-01

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

  10. Long-term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari-like malformation and syringomyelia.

    PubMed

    Plessas, I N; Rusbridge, C; Driver, C J; Chandler, K E; Craig, A; McGonnell, I M; Brodbelt, D C; Volk, H A

    2012-11-17

    The disease complex Chiari-like malformation (CM) and syringomyelia (SM) has been associated with the development of neuropathic pain (NeP), and commonly affects Cavalier King Charles spaniels (CKCS). This prospective cohort study followed 48 CKCSs with CM and/or SM and clinical signs suggestive of NeP for a period of 39 (±14.3) months from diagnosis. At the end of the study, 36 dogs were still alive; five dogs died of an unrelated or unknown cause, and seven were euthanased due to severe clinical signs suggestive of NeP. During the follow-up period, the clinical signs of scratching, facial rubbing behaviour, vocalisation and exercise ability were evaluated. Nine out of 48 dogs stopped scratching (P<0.001), but there was no statistically significant change in the number of dogs exhibiting exercise intolerance, vocalisation or facial rubbing behaviour. The overall severity of clinical signs based on a visual analogue scale (VAS) (0 mm: no clinical signs 100 mm: severe clinical signs) increased (from median 75 mm (interquartile ranges (IQR) 68-84) to 84 mm (IQR 71.5-91), P<0.001). A quarter of the dogs were static or improved. In general, the majority of the owners felt that the quality of life of their dogs was acceptable. Medical treatments received were gabapentin or pregabalin and/or intermittently, carprofen. The owner's perception of their animal's progress, and progress based on VAS, had strong positive correlation (Spearman's rank correlation (s(r)) 0.74, P<0.001). Overall, this study suggests that clinical signs suggestive of NeP progress in three-quarters of CKCSs with CM and/or SM.

  11. Pediatric Chiari malformation type I: long-term outcomes following small-bone-window posterior fossa decompression with autologous-fascia duraplasty

    PubMed Central

    Liu, Hai; Yang, Chenlong; Yang, Jun; Xu, Yulun

    2017-01-01

    Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both pediatric and adult patients, its prevalence, clinical features and management in the pediatric population are not well defined. The current study evaluated a consecutive case series of 92 children (38 females and 54 males) who were diagnosed with congenital CM-I. All patients underwent small-bone-window posterior fossa decompression with autologous-fascia duraplasty. Clinical and radiological features were analyzed and long-term follow-up data were recorded. Risk factors associated with clinical outcomes were investigated using comprehensive statistical methods. Out of the 92 children, 11 (12.0%) were asymptomatic. Associated ventricular dilation was observed in 24 children (26.1%) and concomitant syringomyelia was observed in 72 children (78.3%). A total of 44 children (47.8%) showed scoliosis on plain films. Follow-up data (mean duration, 88.6 months) were available for all patients. Syringomyelia was absent or markedly reduced in 56 patients (77.8%). Symptoms were alleviated in 66 patients, remained unchanged in 12 patients and progressed in 3 patients. Statistical analysis indicated that the cerebellar tonsillar descent (CTD) grade, basilar invagination and platybasia influenced the clinical outcome (P<0.05). In conclusion, early recognition and surgical treatment of CM-I in pediatric patients can lead to good outcomes. The current results suggested that small-bone-window posterior fossa decompression with autologous-fascia duraplasty was an effective safe treatment option with a low complication rate. High CTD grade, basilar invagination and platybasia were indicated to be predictors of poor clinical prognosis. PMID:29285106

  12. A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

    PubMed

    Ancot, Frédéric; Lemay, Philippe; Knowler, Susan P; Kennedy, Karen; Griffiths, Sandra; Cherubini, Giunio Bruto; Sykes, Jane; Mandigers, Paul J J; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

    2018-03-22

    Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance. We identified six cranial T1-weighted sagittal MRI measurements that were associated to maximum transverse diameter of the syrinx cavity. Increased syrinx transverse diameter has been correlated previously with increased likelihood of behavioral signs of pain. We next conducted a whole genome association study of these traits in 65 Cavalier King Charles Spaniel (CKCS) dogs (33 controls, 32 with extreme phenotypes). Two loci on CFA22 and CFA26 were found to be significantly associated to two traits associated with a reduced volume and altered orientation of the caudal cranial fossa. Their reconstructed haplotypes defined two associated regions that harbor only two genes: PCDH17 on CFA22 and ZWINT on CFA26. PCDH17 codes for a cell adhesion molecule expressed specifically in the brain and spinal cord. ZWINT plays a role in chromosome segregation and its expression is increased with the onset of neuropathic pain. Targeted genomic sequencing of these regions identified respectively 37 and 339 SNPs with significantly associated P values. Genotyping of tagSNPs selected from these 2 candidate loci in an extended cohort of 461 CKCS (187 unaffected, 274 SM affected) identified 2 SNPs on CFA22 that were significantly associated to SM strengthening the candidacy of this locus in SM development. We identified 2 loci on CFA22 and CFA26 that contained only 2 genes, PCDH17 and ZWINT, significantly associated to two traits associated with syrinx transverse

  13. Historical Perspective of Split Cord Malformations: A Tale of Two Cords.

    PubMed

    Saker, Erfanul; Loukas, Marios; Fisahn, Christian; Oskouian, Rod J; Tubbs, R Shane

    2017-01-01

    Our appreciation and understanding of what is now known as the split cord malformation (SCM) have a long history. The oldest known example of SCM is from roughly AD 100. Other isolated examples can be found in the large body of work of the pathologists of the 1800s, where the SCMs were found incidentally during autopsies. SCM has a rich history and has intrigued physicians for over 200 years. Many well-known figures from the past such as Chiari and von Recklinghausen, both pathologists, made early postmortem descriptions of SCM. With the advent of MRI, these pathological embryological derailments can now often be detected and appreciated early and during life. Our understanding and ability to treat these congenital malformations as well as the terminology used to describe them have changed over the last several decades. © 2016 S. Karger AG, Basel.

  14. Comparison of posterior fossa decompression with and without duraplasty for the surgical treatment of Chiari malformation type I in adult patients

    PubMed Central

    Chen, Junchen; Li, Yongning; Wang, Tianyu; Gao, Jun; Xu, Jincheng; Lai, Runlong; Tan, Dianhui

    2017-01-01

    Abstract Chiari malformation type I (CM-I) is a congenital neurosurgical disease about the herniation of cerebellar tonsil through the foramen magnum. A variety of surgical techniques for CM-I have been used, and there is a controversy whether to use posterior fossa decompression with duraplasty (PFDD) or posterior fossa decompression without duraplasty (PFD) in CM-I patients. Here, we compared the clinical results and effectiveness of PFDD and PFD in adult patients with CM-I. The cases of 103 adult CM-I patients who underwent posterior fossa decompression with or without duraplasty from 2008 to 2014 were reviewed retrospectively. Patients were divided into 2 groups according to the surgical techniques: PFDD group (n = 70) and PFD group (n = 33). We compared the demographics, preoperative symptoms, radiographic characteristics, postoperative complications, and clinical outcomes between the PFD and PFDD patients. No statistically significant differences were found between the PFDD and PFD groups with regard to demographics, preoperative symptoms, radiographic characteristics, and clinical outcomes(P > 0.05); however, the postoperative complication aseptic meningitis occurred more frequently in the PFDD group than in the PFD group (P = 0.027). We also performed a literature review about the PFDD and PFD and made a summary of these preview studies. Our study suggests that both PFDD and PFD could achieve similar clinical outcomes for adult CM-I patients. The choice of surgical procedure should be based on the patient's condition. PFDD may lead to a higher complication rate and autologous grafts seemed to perform better than nonautologous grafts for duraplasty. PMID:28121938

  15. Adding Expansile Duraplasty to Posterior Fossa Decompression May Restore Cervical Range of Motion in Grade 3 Chiari Malformation Type 1 Patients.

    PubMed

    Yilmaz, Adem; Urgun, Kamran; Aoun, Salah G; Colak, Ibrahim; Yilmaz, Ilhan; Altas, Kadir; Musluman, Murat

    2017-02-01

    Few studies have assessed the effect of Chiari malformation type 1 (CM-1) surgical decompression on cervical lordosis and range of motion (ROM). We aimed to assess the effect of expansile duraplasty on postoperative cervical mobility and spinal stability. This was a single-center retrospective review of prospectively collected data. Patients were included if they underwent surgical treatment for symptomatic CM-1 between the years 1999 and 2009. Cervical ROM and lordosis were assessed before and after surgery in all patients. Collected data also included clinical improvement, as well as surgical complications after the procedure. Patients were divided into 2 groups. The first group underwent a posterior fossa bony decompression alone, while the second group additionally received an expansile duraplasty. Patients were further subdivided into 3 subgroups on the basis of the severity of tonsillar herniation. A total of 76 patients fit our selection criteria. Fifty-five patients belonged to the duraplasty group. Twenty-one patients underwent bony decompression alone. The 2 groups were statistically demographically and clinically similar. There was no difference in clinical outcome or in ROM and cervical lordosis between the groups except for patients with severe tonsillar herniation (CM-I grade 3). These patients had a statistically significant improvement in their postoperative cervical motility without compromising their spinal stability. Adding an expansile duraplasty to craniovertebral decompression in CM-1 patients with severe tonsillar herniation may restore cervical ROM while preserving stability and alignment. This may relieve postoperative pain and improve clinical prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Chiari malformation Type I surgery in pediatric patients. Part 1: validation of an ICD-9-CM code search algorithm.

    PubMed

    Ladner, Travis R; Greenberg, Jacob K; Guerrero, Nicole; Olsen, Margaret A; Shannon, Chevis N; Yarbrough, Chester K; Piccirillo, Jay F; Anderson, Richard C E; Feldstein, Neil A; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

    2016-05-01

    OBJECTIVE Administrative billing data may facilitate large-scale assessments of treatment outcomes for pediatric Chiari malformation Type I (CM-I). Validated International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code algorithms for identifying CM-I surgery are critical prerequisites for such studies but are currently only available for adults. The objective of this study was to validate two ICD-9-CM code algorithms using hospital billing data to identify pediatric patients undergoing CM-I decompression surgery. METHODS The authors retrospectively analyzed the validity of two ICD-9-CM code algorithms for identifying pediatric CM-I decompression surgery performed at 3 academic medical centers between 2001 and 2013. Algorithm 1 included any discharge diagnosis code of 348.4 (CM-I), as well as a procedure code of 01.24 (cranial decompression) or 03.09 (spinal decompression or laminectomy). Algorithm 2 restricted this group to the subset of patients with a primary discharge diagnosis of 348.4. The positive predictive value (PPV) and sensitivity of each algorithm were calculated. RESULTS Among 625 first-time admissions identified by Algorithm 1, the overall PPV for CM-I decompression was 92%. Among the 581 admissions identified by Algorithm 2, the PPV was 97%. The PPV for Algorithm 1 was lower in one center (84%) compared with the other centers (93%-94%), whereas the PPV of Algorithm 2 remained high (96%-98%) across all subgroups. The sensitivity of Algorithms 1 (91%) and 2 (89%) was very good and remained so across subgroups (82%-97%). CONCLUSIONS An ICD-9-CM algorithm requiring a primary diagnosis of CM-I has excellent PPV and very good sensitivity for identifying CM-I decompression surgery in pediatric patients. These results establish a basis for utilizing administrative billing data to assess pediatric CM-I treatment outcomes.

  17. Comparison of Clinical and Radiographic Outcomes for Posterior Fossa Decompression with and without Duraplasty for Treatment of Pediatric Chiari I Malformation: A Prospective Study.

    PubMed

    Jiang, Enze; Sha, Shifu; Yuan, XinXin; Zhu, WeiGuo; Jiang, Jian; Ni, Hongbin; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

    2018-02-01

    The aim of this study was to prospectively compare the radiographic and clinical outcomes between the posterior fossa decompression (PFD) and PFD with duraplasty (PFDD) procedures in adolescent patients with Chiari malformation type I (CMI). Ninety adolescent patients with CMI were randomly assigned to undergo either PFDD or PFD. In both groups, a dissection from the occipital bone was performed. The dura was not opened in the PFD group, and the outer layer of dura was resected. However, in the PFDD group, the dura mater was opened and expanded. Data were analyzed for clinical outcome, complications, and syrinx resolution. The age, gender, and preoperative neurologic status were similar between the 2 groups. Compared with the PFD group, patients undergoing PFDD had significantly longer operation time, longer postoperative drainage time, and higher drainage volume. At the latest follow-up, no statistically significant difference was found between the 2 groups in terms of syrinx resolution. The clinical outcomes were similar in the PFDD and PFD group. Compared with the PFD group, patients in the PFDD group had a higher incidence of cerebrospinal fluid leak. Compared with the more aggressive decompression with duraplasty, PFD without duraplasty produces comparable radiologic and clinical outcomes and is associated with a lower risk of complications. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Fetoscopy for meningomyelocele repair: past, present and future

    PubMed Central

    Bevilacqua, Nicole Silva; Pedreira, Denise Araujo Lapa

    2015-01-01

    ABSTRACT Meningomyelocele is a malformation with high prevalence, and one of its main comorbidities is Arnold-Chiari malformation type II. The intrauterine repair of this defect has been studied to reduce the progressive spinal cord damage during gestation. The purpose of the present review was to describe the evolution of fetal surgery for meningomyelocele repair. Searches on PubMed database were conducted including articles published in the last 10 years. Twenty-seven articles were selected, 16 experimental studies and 11 studies in humans. A recent study demonstrated that the fetal correction results in better prognosis of neurological and psychomotor development, but open surgery, which has being used widely, has considerable maternal risks. Studies in animal and human models show that the endoscopic approach is feasible and leads to lower maternal morbidity rates. Two endoscopic techniques are currently under assessment - one in Germany and another in Brazil, and we believe that the endoscopic approach will be the future technique for prenatal repair of this defect. PMID:26154549

  19. Comparison of the scoliosis curve patterns and MRI syrinx cord characteristics of idiopathic syringomyelia versus Chiari I malformation.

    PubMed

    Zhu, Zezhang; Sha, Shifu; Chu, Winnie C C; Yan, Huang; Xie, Dingding; Liu, Zhen; Sun, Xu; Zhu, Weiguo; Cheng, Jack C Y; Qiu, Yong

    2016-02-01

    Although the more readily available MR imaging has brought about more incidental findings of idiopathic syringomyelia (IS), no published study has specifically addressed the clinical and imaging features of IS-associated scoliosis. Since IS and Chiari I malformation (CMI)-type syringomyelia are hypothesized to share a common underlying developmental pathomechanism, this study aimed to investigate the scoliosis curve patterns and MRI syrinx cord characteristics of patients with IS comparing with those seen in CMI. Sixty-one patients with scoliosis secondary to IS were identified and reviewed retrospectively. The curve pattern and specific curve features were recorded and compared with historic CMI controls. Location, size, and morphological appearance of the syrinx were systematically assessed on MR images. The maximal syrinx/cord ratio and rostrocaudal length of the syrinx in IS averaged 0.43 ± 0.16 (range 0.17-0.78) and 4.6 ± 2.5 (range 2-15) vertebral levels, respectively, both of which were smaller than those reported in CMI-type syringomyelia. Regarding the characteristics of IS-related scoliosis, sagittal profiles as well as the frequency of curve patterns and atypical features were all found to resemble those in patients with CMI (P > .05). Among the 47 individuals with a single thoracic curve, Fisher exact test revealed a significant correlation between curve convexity and the dominant side of deviated syrinx (83.3 % concordance rate, P = .021). In addition, apex of the thoracic curve trended toward being significantly correlated with the level of maximum expansion of the syrinx (P = .066). Radiological characteristics of scoliosis were found to be similar between idiopathic and CMI-type syrinx in both the coronal and sagittal planes, adding further evidence to the concept that these entities may be part of a spectrum of disease sharing a common pathophysiological mechanism. The thoracic spine in IS patients tended to be convex to the deviated side of

  20. Evaluation of soft tissue hypertrophy at the retro-odontoid space in patients with Chiari malformation type I on magnetic resonance imaging.

    PubMed

    Hayashi, Yasuhiko; Oishi, Masahiro; Sasagawa, Yasuo; Kita, Daisuke; Kozaka, Kazuto; Nakada, Mitsutoshi

    2018-06-02

    Chiari malformation type I (CM-I) is a well-known hindbrain disorder in which the cerebellar tonsils protrude through the foramen magnum. The soft tissues, including the transverse ligament and the tectorial membrane at the retro-odontoid space, can compress the cervicomedullary junction if they become hypertrophic. Twenty-two symptomatic CM-I patients (aged 5 to 19 years) were treated between 2007 and 2017 at our institute. The retro-odontoid soft tissue was evaluated using T2-weighted magnetic resonance imaging. Anterior-posterior (AP) distances and cranio-caudal (CC) distances of the soft tissue were measured in CM-I patients and 48 normal control children. Modified clivo-axial angles (CAA) were also evaluated as the index of ventral compression of the cervicomedullary junction. Of the 18 patients treated with foramen magnum decompression (FMD), 16 patients improved postoperatively, while the condition of 2 remained unchanged. The AP distances in the CM-I group (6.0 mm) were significantly larger than those in the control group (3.5 mm), whereas there were no apparent differences in the CC distances. Modified CAAs were obviously smaller in the CM-I group (131.5°) than in the control group (146.9°). Moreover, the AP distances were significantly reduced postoperatively (5.5 mm), though the other parameters did not change significantly. The retro-odontoid soft tissue in symptomatic CM-I patients can be hypertrophic enough to compress the cervicomedullary junction ventrally even if there are no combined osseous anomalies. FMD works to reduce the hypertrophic changes significantly, suggesting that downward tonsil movement might participate in hypertrophic soft tissue formation at the retro-odontoid space. Copyright © 2018 Elsevier Inc. All rights reserved.

  1. Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

    PubMed

    Merello, Elisa; Tattini, Lorenzo; Magi, Alberto; Accogli, Andrea; Piatelli, Gianluca; Pavanello, Marco; Tortora, Domenico; Cama, Armando; Kibar, Zoha; Capra, Valeria; De Marco, Patrizia

    2017-08-01

    Chiari malformation type I (CMI) is a congenital abnormality of the cranio-cerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation. The presence for a genetic basis to CMI is supported by many lines of evidence. The cellular and molecular mechanisms leading to CM1 are poorly understood. The occipital bone formation is dependent on complex interactions between genes and molecules with pathologies resulting from disruption of this delicate process. Whole-exome sequencing of affected and not affected individuals from two Italian families with non-isolated CMI was undertaken. Single-nucleotide and short insertion-deletion variants were prioritized using KGGSeq knowledge-based platform. We identified three heterozygous missense variants: DKK1 c.121G>A (p.(A41T)) in the first family, and the LRP4 c.2552C>G (p.(T851R)) and BMP1 c.941G>A (p.(R314H)) in the second family. The variants were located at highly conserved residues, segregated with the disease, but they were not observed in 100 unaffected in-house controls. DKK1 encodes for a potent soluble WNT inhibitor that binds to LRP5 and LRP6, and is itself regulated by bone morphogenetic proteins (BMPs). DKK1 is required for embryonic head development and patterning. LRP4 is a novel osteoblast expressed receptor for DKK1 and a WNT and BMP 4 pathways integrator. Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c.359G>T (p.(R120L)), in two unrelated patients. These findings implicated the WNT signaling in the correct development of the cranial mesenchyme originating the PF.

  2. Treatment practices for Chiari malformation type I with syringomyelia: results of a survey of the American Society of Pediatric Neurosurgeons.

    PubMed

    Rocque, Brandon G; George, Timothy M; Kestle, John; Iskandar, Bermans J

    2011-11-01

    The purpose of this study was to report the results of a survey of the American Society of Pediatric Neurosurgeons (ASPN) on treatment of Chiari malformation Type I (CM-I) with syringomyelia. A questionnaire was circulated during the 2006 meeting of the ASPN, in which surgeons were surveyed on their management of patients with CM-I and syringomyelia. The survey consisted of questions about 4 clinical scenarios, common causes of surgical failures, and complications. There were 72 respondents, representing more than 90% of attendees at the 2006 ASPN meeting and approximately half of the society's members. The majority of respondents (85%) reported that they perform posterior fossa decompression as first-line treatment for CM-I with syringomyelia. Seven percent perform bony decompression alone, 36% open the dura, and 27% shrink the tonsils. Very few respondents indicated that they offer syrinx drainage as first-line therapy (< 3%). Although all respondents reported that they treat symptomatic CM-I/syringomyelia patients surgically, 15% of respondents indicated that they do not operate on asymptomatic patients. Finally, respondents stated that their most common complications are pseudomeningocele and chemical meningitis. This survey, given to a representative group of experienced North American pediatric neurosurgeons, confirms that posterior fossa decompression is still the preferred treatment modality in children with CM-I and syringomyelia, regardless of symptoms. Although most surgeons open the dura, preferred techniques for decompression vary. In contrast to the results of past surveys, conservative follow-up is now only used by a minority of respondents and only in the asymptomatic patient, and primary syrinx drainage seems to have lost popularity. A multicenter trial of surgical outcomes has been designed based on the information from this survey.

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

    PubMed Central

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

    2013-01-01

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

  4. Hydromyelia

    MedlinePlus

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

  5. Syringomyelia

    MedlinePlus

    ... which brain tissue protrudes into your spinal canal (Chiari malformation). Other causes of syringomyelia include spinal cord tumors, ... protrusion of brain tissue into your spinal canal (Chiari malformation), symptoms generally may begin between ages 25 and ...

  6. Genetics Home Reference: spondylocostal dysostosis

    MedlinePlus

    ... spina bifida and a brain abnormality called a Chiari malformation. Although breathing problems can be fatal early in ... Resources MedlinePlus (6 links) Encyclopedia: Scoliosis Health Topic: Chiari Malformation Health Topic: Neural Tube Defects Health Topic: Scoliosis ...

  7. Total hip arthroplasty of dysplastic hip after previous Chiari pelvic osteotomy.

    PubMed

    Minoda, Yukihide; Kadowaki, Toru; Kim, Mitsunari

    2006-08-01

    Many reports have suggested that Chiari pelvic osteotomy would improve the results of acetabular component placement and fixation in subsequent total hip arthroplasty. However, little is known concerning the biomechanical, radiological, and clinical effects of Chiari pelvic osteotomy on subsequent total hip arthroplasty. Ten total hip arthroplasties for developmental dysplasia of the hip after previous Chiari pelvic osteotomy (Chiari group) were compared with 20 total hip arthroplasties for developmental dysplasia of the hip without previous surgery (control group). Preoperative patient demographic data and operative technique were well matched between the groups. The mean duration of follow-up was 3.0 years. Biomechanical, radiological, and clinical evaluations were performed. No acetabular or femoral components exhibited loosening. All patients had good or excellent clinical score according to the Merle d'Aubigne-Postel rating system at the most recent follow-up. Abductor force and joint force were smaller in the Chiari group, although long operative time, more blood loss, and verticalization of joint force were noted in this group. This limited study suggested that Chiari pelvic osteotomy changed the biomechanical features of the hip joint, and that this alteration might have compromised subsequent total hip arthroplasty.

  8. Automated Quantitation of Non-Steady Flow and Lumen Area Based on Temporal Correlation

    DTIC Science & Technology

    2001-10-25

    elevated intracranial pressure (ICP)), and Chiari malformation (herniation of hindbrain into the spinal canal) (3,4). Recently, noninvasive method...4] Pujol J, Roig C, et. al.: Motion of the Cerebellar Tonsils in Chiari Type I Malformation Studied by Cine Phase-Contrast MRI, Neurology 45

  9. Arnold Hely and Australian Adult Education

    ERIC Educational Resources Information Center

    Morris, Roger

    2011-01-01

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

  10. 75 FR 64748 - Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Availability of the Final...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-20

    ... action and reasonable alternative energy sources. As discussed in Section 9.4 of the final Supplement 42... NUCLEAR REGULATORY COMMISSION [Docket No. 50-331; NRC-2010-0048] Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Availability of the Final Supplement 42 to the Generic...

  11. In utero repair of myelomeningocele: experimental pathophysiology, initial clinical experience, and outcomes.

    PubMed

    Farmer, Diana L; von Koch, Cornelia S; Peacock, Warwick J; Danielpour, Moise; Gupta, Nalin; Lee, Hanmin; Harrison, Michael R

    2003-08-01

    Experimental work raises the possibility that in utero repair of myelomeningocele (MMC) may improve lower extremity, bladder, and bowel function, ameliorate the Arnold-Chiari malformation, and decrease the need for postnatal shunting. We previously developed fetal lamb models to create and reverse lower extremity damage and the Arnold-Chiari malformation in utero. We then applied our extensive experience with fetal surgery, including fetal endoscopic (fetoscopic) surgical manipulation, to develop techniques for MMC repair. A tertiary referral center. All patients treated between 1998 and 2002 for a prenatally diagnosed MMC. Either fetoscopic MMC repair, fetoscopic patch repair, or limited maternal hysterotomy and microsurgical 3-layered fetal MMC repair was performed. Gestational age at delivery, survival, neurologic outcome, and need for ventricular shunting at 1 year. Complete fetoscopic repair was accomplished in 1 fetus. Two other fetuses underwent partial fetoscopic procedures. The remaining 10 patients underwent limited maternal hysterotomy and microsurgical 3-layered fetal MMC repair. Four of 13 patients died, and the mean gestational age at delivery of 11 fetuses born alive was 31 weeks. Five of 9 required ventricular shunting by age 1 year. In 2 patients, lower extremity function improved by more than 2 vertebral levels compared with prenatal ultrasonography. Five of 10 patients who lived longer than 3 weeks required postnatal wound revision within 7 days after birth. Fetoscopic repair, although feasible, does not yet yield optimal surgical results. Open surgical repair before 22 weeks' gestation is physiologically sound and technically feasible. One third of patients appear to be spared the need for a shunt at age 1 year, but improvement in distal neurologic function is less clear. Additionally, fetal mortality is associated with this procedure. Our results complement the data published by groups at Children's Hospital of Philadelphia, in Pennsylvania

  12. Chiari Malformation

    MedlinePlus

    ... symptoms may vary among individuals and may include: neck pain hearing or balance problems muscle weakness or numbness ... hands. Some individuals also have severe arm and neck pain. Tethered cord syndrome occurs when a child’s spinal ...

  13. Arnold Tongues in Cell Dynamics

    NASA Astrophysics Data System (ADS)

    Jensen, Mogens

    In a recent work with Leo Kadanoff we studied the synchronization between an internal and an external frequency. One obtains a highly structured diagram with details that in essence are related to the difference between rational and irrational number. The synchronized regions appear as Arnold tongues that widen as the coupling between the frequencies increases. Such tongues have been observed in many physical systems, like in the Libchaber convective cell in the basement of the University of Chicago. In biological systems, where oscillators appear in in a broad variety, very little research on Arnold tongues has been performed. We discuss single cell oscillating dynamics triggered by an external cytokine signal. When this signal is overlaid by an oscillating variation, the two oscillators might couple leading to Arnold tongue diagram. When the tongues overlap, the cell dynamics can shift between the tongues eventually leading to a chaotic response. We quantify such switching in single cell experiments and in model systems based on Gillespie simulations. Kadanoff session.

  14. A points-based algorithm for prognosticating clinical outcome of Chiari malformation Type I with syringomyelia: results from a predictive model analysis of 82 surgically managed adult patients.

    PubMed

    Thakar, Sumit; Sivaraju, Laxminadh; Jacob, Kuruthukulangara S; Arun, Aditya Atal; Aryan, Saritha; Mohan, Dilip; Sai Kiran, Narayanam Anantha; Hegde, Alangar S

    2018-01-01

    OBJECTIVE Although various predictors of postoperative outcome have been previously identified in patients with Chiari malformation Type I (CMI) with syringomyelia, there is no known algorithm for predicting a multifactorial outcome measure in this widely studied disorder. Using one of the largest preoperative variable arrays used so far in CMI research, the authors attempted to generate a formula for predicting postoperative outcome. METHODS Data from the clinical records of 82 symptomatic adult patients with CMI and altered hindbrain CSF flow who were managed with foramen magnum decompression, C-1 laminectomy, and duraplasty over an 8-year period were collected and analyzed. Various preoperative clinical and radiological variables in the 57 patients who formed the study cohort were assessed in a bivariate analysis to determine their ability to predict clinical outcome (as measured on the Chicago Chiari Outcome Scale [CCOS]) and the resolution of syrinx at the last follow-up. The variables that were significant in the bivariate analysis were further analyzed in a multiple linear regression analysis. Different regression models were tested, and the model with the best prediction of CCOS was identified and internally validated in a subcohort of 25 patients. RESULTS There was no correlation between CCOS score and syrinx resolution (p = 0.24) at a mean ± SD follow-up of 40.29 ± 10.36 months. Multiple linear regression analysis revealed that the presence of gait instability, obex position, and the M-line-fourth ventricle vertex (FVV) distance correlated with CCOS score, while the presence of motor deficits was associated with poor syrinx resolution (p ≤ 0.05). The algorithm generated from the regression model demonstrated good diagnostic accuracy (area under curve 0.81), with a score of more than 128 points demonstrating 100% specificity for clinical improvement (CCOS score of 11 or greater). The model had excellent reliability (κ = 0.85) and was validated with

  15. Chiari malformation Type I surgery in pediatric patients. Part 2: complications and the influence of comorbid disease in California, Florida, and New York.

    PubMed

    Greenberg, Jacob K; Olsen, Margaret A; Yarbrough, Chester K; Ladner, Travis R; Shannon, Chevis N; Piccirillo, Jay F; Anderson, Richard C E; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

    2016-05-01

    OBJECTIVE Chiari malformation Type I (CM-I) is a common and often debilitating pediatric neurological disease. However, efforts to guide preoperative counseling and improve outcomes research are impeded by reliance on small, single-center studies. Consequently, the objective of this study was to investigate CM-I surgical outcomes using population-level administrative billing data. METHODS The authors used Healthcare Cost and Utilization Project State Inpatient Databases (SID) to study pediatric patients undergoing surgical decompression for CM-I from 2004 to 2010 in California, Florida, and New York. They assessed the prevalence and influence of preoperative complex chronic conditions (CCC) among included patients. Outcomes included medical and surgical complications within 90 days of treatment. Multivariate logistic regression was used to identify risk factors for surgical complications. RESULTS A total of 936 pediatric CM-I surgeries were identified for the study period. Overall, 29.2% of patients were diagnosed with syringomyelia and 13.7% were diagnosed with scoliosis. Aside from syringomyelia and scoliosis, 30.3% of patients had at least 1 CCC, most commonly neuromuscular (15.2%) or congenital or genetic (8.4%) disease. Medical complications were uncommon, occurring in 2.6% of patients. By comparison, surgical complications were diagnosed in 12.7% of patients and typically included shunt-related complications (4.0%), meningitis (3.7%), and other neurosurgery-specific complications (7.4%). Major complications (e.g., stroke or myocardial infarction) occurred in 1.4% of patients. Among children with CCCs, only comorbid hydrocephalus was associated with a significantly increased risk of surgical complications (OR 4.5, 95% CI 2.5-8.1). CONCLUSIONS Approximately 1 in 8 pediatric CM-I patients experienced a surgical complication, whereas medical complications were rare. Although CCCs were common in pediatric CM-I patients, only hydrocephalus was independently

  16. Colon perforation and Budd-Chiari syndrome in Behçet's disease.

    PubMed

    Baş, Yılmaz; Güney, Güven; Uzbay, Pınar; Zobacı, Ethem; Ardalı, Selin; Özkan, Ayşegül Taylan

    2015-05-02

    Behçet's disease is a chronic inflammatory disease involving multiple systems, with vasculitis being the most important pathological feature. Multiple colon perforations are thought to be secondary to vasculitis and they occur in patients with ulcers. These may be encountered within the entire colon but most commonly in the ileocecal region. Intestinal perforation and Budd-Chiari syndrome are infrequent in Behçet's disease, and are associated with high mortality and morbidity. Budd-Chiari syndrome results from occlusion of either hepatic veins or adjacent inferior vena cava, or both. We report a patient with Behçet's disease having multiple perforations in the transverse colon, descending colon, and sigmoid colon. The patient also had Budd-Chiari syndrome due to inferior vena cava thrombosis extending into the right and middle hepatic vein. Our observations are presented with a review of the literature. In Behçet's disease, treatment of colon perforation necessitates urgent surgery, whereas management of Budd-Chiari syndrome is directed towards the underlying cause. Behçet's disease, as a chronic multisystemic disease with various forms of vasculitis, is resistant to medical and surgical treatment. Prognosis is worse in Behçet's disease with colon perforation than that in Budd-Chiari syndrome alone.

  17. Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel

    PubMed Central

    Cross, Chloe; Griffiths, Sandra; McFadyen, Angus K.; Jovanovik, Jelena; Tauro, Anna; Kibar, Zoha; Driver, Colin J.; La Ragione, Roberto M.; Rusbridge, Clare

    2017-01-01

    Objectives To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI) of the brain and craniocervical junction. Methods This retrospective study, based on a previous quantitative analysis in the Griffon Bruxellois (GB), used 24 measurements taken on 130 T1-weighted MRI of hindbrain and cervical region. Associated brachycephaly was estimated using 26 measurements, including rostral forebrain flattening and olfactory lobe rotation, on 72 T2-weighted MRI of the whole brain. Both study cohorts were divided into three groups; Control, CM pain and SM and their morphometries compared with each other. Results Fourteen significant traits were identified in the hindbrain study and nine traits in the whole brain study, six of which were similar to the GB and suggest a common aetiology. The Control cohort had the most elliptical brain (p = 0.010), least olfactory bulb rotation (p = 0.003) and a protective angle (p = 0.004) compared to the other groups. The CM pain cohort had the greatest rostral forebrain flattening (p = 0.007), shortest basioccipital (p = 0.019), but a greater distance between the atlas and basioccipital (p = 0.002) which was protective for SM. The SM cohort had two conformation anomalies depending on the severity of craniocervical junction incongruities; i) the proximity of the dens (p <0.001) ii) increased airorhynchy with a smaller, more ventrally rotated olfactory bulb (p <0.001). Both generated ‘concertina’ flexures of the brain and craniocervical junction. Conclusion Morphometric mapping provides a diagnostic tool for quantifying symptomatic CM, secondary SM and their relationship with brachycephaly. It is hypothesized that CM pain is associated with increased brachycephaly and SM can result from different combinations of abnormalities of the forebrain, caudal fossa and

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

    PubMed

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

    2015-08-01

    OBJECT Osseous anomalies of the craniocervical junction are hypothesized to precipitate the hindbrain herniation observed in Chiari I malformation (CM-I). Previous work by Tubbs et al. showed that posterior angulation of the odontoid process is more prevalent in children with CM-I than in healthy controls. The present study is an external validation of that report. The goals of our study were 3-fold: 1) to externally validate the results of Tubbs et al. in a different patient population; 2) to compare how morphometric parameters vary with age, sex, and symptomatology; and 3) to develop a correlative model for tonsillar ectopia in CM-I based on these measurements. METHODS The authors performed a retrospective review of 119 patients who underwent posterior fossa decompression with duraplasty at the Monroe Carell Jr. Children's Hospital at Vanderbilt University; 78 of these patients had imaging available for review. Demographic and clinical variables were collected. A neuroradiologist retrospectively evaluated preoperative MRI examinations in these 78 patients and recorded the following measurements: McRae line length; obex displacement length; odontoid process parameters (height, angle of retroflexion, and angle of retroversion); perpendicular distance to the basion-C2 line (pB-C2 line); length of cerebellar tonsillar ectopia; caudal extent of the cerebellar tonsils; and presence, location, and size of syringomyelia. Odontoid retroflexion grade was classified as Grade 0, > 90°; Grade I,85°-89°; Grade II, 80°-84°; and Grade III, < 80°. Age groups were defined as 0-6 years, 7-12 years, and 13-17 years at the time of surgery. Univariate and multivariate linear regression analyses, Kruskal-Wallis 1-way ANOVA, and Fisher's exact test were performed to assess the relationship between age, sex, and symptomatology with these craniometric variables. RESULTS The prevalence of posterior odontoid angulation was 81%, which is almost identical to that in the previous report

  19. A case of a large Chiari network mimicking a right atrial thrombus.

    PubMed

    Erdogan, Sevinc Bayer; Akansel, Serdar; Sargın, Murat; Mete, Muge Evren Tasdemir; Arslanhan, Gokhan; Aka, Serap Aykut

    2017-01-01

    The Chiari network is described as a reticulated network of fibers connected to the Eustachian valve identified as the embryological remnant of the right valve of the sinus venosus. It is an incidental finding without any significant pathophysiological consequences. However, the presence of the Chiari network in the right atrium obliges the physician to differentiate from other right atrial pathologies. We present a case of a large Chiari network mimicking a right atrial thrombus with incidental finding in a 76-year-old man undergoing coronary artery bypass surgery.

  20. Clinically silent subdural hemorrhage causes bilateral vocal fold paralysis in newborn infant.

    PubMed

    Alshammari, Jaber; Monnier, Yan; Monnier, Philippe

    2012-10-01

    Bilateral congenital vocal fold paralysis (BVFP) may result from multiple etiologies or remain idiopathic when no real cause can be identified. If obstructive dyspnea is significant and requires urgent stabilization of the airway, then intubation is performed first and an MRI of the brain is conducted to rule out an Arnold-Chiari malformation that can benefit from a shunt procedure and thus alleviate the need for a tracheostomy. Clinically silent subdural hemorrhage without any birth trauma represents another cause of neonatal BVFP that resolves spontaneously within a month. It is of clinical relevance to recognize this potential cause of BVFP as its short duration may alleviate the need for a tracheostomy. In this article, we present such a case and review the literature to draw the otolaryngologist's attention to this possible etiology. Copyright © 2012. Published by Elsevier Ireland Ltd.

  1. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    PubMed

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  2. “Stealth cranioplasty:” A novel endeavor for symptomatic adult Chiari I patients with syringomyelia: Technical note, appraisal, and philosophical considerations

    PubMed Central

    Rahman, Asifur; Rana, Md. Sumon; Bhandari, Paawan Bahadur; Asif, Dewan Shamsul; Uddin, Abu Naim Wakil; Obaida, Abu Saleh Mohammad Abu; Rahman, Md. Atikur; Alam, Md. Shamsul

    2017-01-01

    Aim and Objective: In this article, we describe a novel technique of reconstruction of posterior fossa by cranioplasty with use of preshaped titanium mesh following posterior fossa decompression (PFD) for Chiari malformation type I (CMI) with syringomyelia (SM) in symptomatic adults. Materials and Methods: Eleven patients underwent limited PFD and expansive cranioplasty with preshaped titanium mesh, what we term as “Stealth Cranioplasty” (SCP), following arachnoid preserving duraplasty (APD) and hexagonal tenting of the duraplasty with the cranioplasty (HTDC) for the management of symptomatic adult CMI with SM. All these patients had syringes extending from 3 to >10 vertebral levels. Results: Seven male and four female symptomatic CMI adult patients, between age ranges of 22 and 44 years (mean 29.45 years), presented with different neurological symptoms related to CMI and SM for 6–84 months (mean 37.09 months). All the patients underwent PFD, APD followed by SCP and HTDC and were followed up for 7–54 months (mean 35.90 months). Of 11 patients, 8 patients improved according to the Chicago Chiari Outcome Scale (CCOS) with score of 13–15 while 3 patients remained unchanged with CCOS of 12, and there was no worsening. There was no complication related to Chiari surgery in any of the patients. All the patients had good reestablishment of cisterna magna. Two patients had marked reduction of syrinx while eight patients had moderate-to-mild reduction and one patient had no change of syrinx. None of the patients needed redo surgery. Conclusion: SCP is an effective, fruitful, and cost-effective technique for the management of symptomatic adult CMI with SM. This technique has the advantages of preventing complications and recurrences in addition to the improvement of symptoms by addressing the basic pathology. PMID:29021676

  3. 09-NIF Dedication: Arnold Schwarzenegger

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Governor Arnold Schwarzenegger

    2009-07-02

    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.

  4. 09-NIF Dedication: Arnold Schwarzenegger

    ScienceCinema

    Governor Arnold Schwarzenegger

    2017-12-09

    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.

  5. "Very much in love": The letters of Magda Arnold and Father John Gasson.

    PubMed

    Rodkey, Elissa N

    2017-07-01

    Magda Arnold (1903-2002), best known for her pioneering appraisal theory of emotion, belonged to the second generation of women in psychology who frequently experienced institutional sexism and career barriers. Following her religious conversion, Arnold had to contend with the additional challenge of being an openly Catholic woman in psychology at a time when Catholic academics were stigmatized. This paper announces the discovery of and relies upon a number of previously unknown primary sources on Magda Arnold, including approximately 150 letters exchanged by Arnold and Father John Gasson. This correspondence illuminates both the development of Arnold's thought and her navigation of the career challenges posed by her conversion. I argue that Gasson's emotional and intellectual support be considered as resources that helped Arnold succeed despite the discrimination she experienced. Given the romantic content of the correspondence, I also consider Arnold and Gasson in the context of other academic couples in psychology in this period and argue that religious belief ought to be further explored as a potential contributor to the resilience of women in psychology's history. © 2017 Wiley Periodicals, Inc.

  6. Chiari Malformation: Symptoms

    MedlinePlus

    ... hands Fatigue Nausea Shortness of breath Blurred Vision Tinnitus Difficulty swallowing Leg weakness % 98 84 72 69 ... system) may not work properly, which may cause tinnitus (ringing in the ears), depth perception, running into ...

  7. Chiari Malformation: Treatment

    MedlinePlus

    ... There are many variations: Surgical Steps Craniectomy- A piece of the skull is removed Laminectomy- Part of ... in to take the place of the removed piece of skull © 2012 C&S Patient Education Foundation, ® This ...

  8. Chiari Malformation: Diagnosis

    MedlinePlus

    ... Chronic Fatigue, Lupus, Migraines, Carpal Tunnel Syndrome and ALS (Lou Gehrig’s). These associations cause confusion to the ... Sclerosis Fibromyalgia Chronic Fatigue Lupus Migraines Carpal Tunnel ALS (Lou Gehrig’s) Milhorat’s landmark study of over 300 ...

  9. Arnold on Discovery Middeck (MDDK)

    NASA Image and Video Library

    2009-03-16

    S119-E-005004 (15 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, attired in his shuttle launch and entry suit, gives a “thumbs-up” signal on the middeck of Space Shuttle Discovery during postlaunch activities.

  10. Arnold on Discovery Flightdeck (FD)

    NASA Image and Video Library

    2009-03-16

    S119-E-005010 (15 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, attired in his shuttle launch and entry suit, gives a “thumbs-up” signal on the aft flight deck of Space Shuttle Discovery during postlaunch activities.

  11. Taking Chiari to School: A Guide for Parents

    MedlinePlus

    ... 7-9 Glossary of Educational Terms p. 12 Laws that Affect the Education of Disabled Children p. ... and help your child with Chiari succeed. 2 Laws that Affect the Education of Students The four ...

  12. Eculizumab in paroxysmal nocturnal hemoglobinuria with Budd-Chiari syndrome progressing despite anticoagulation

    PubMed Central

    2012-01-01

    Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive, life-threatening disorder characterized by chronic intravascular hemolysis caused by uncontrolled complement activation. Hepatic vein thrombosis (Budd-Chiari syndrome) is common in PNH patients. This case report describes the response to eculizumab (a humanized monoclonal antibody that inhibits terminal complement activation) in a 25-year-old male with progressive liver function deterioration despite standard anticoagulation therapy and transjugular intrahepatic porto-systemic shunt. The patient presented with anemia, severe thrombocytopenia, headache, abdominal pain, and distention. He was diagnosed with PNH, cerebral vein thrombosis, and Budd-Chiari syndrome. Despite adequate anticoagulation, diuretic administration, and placement of a transjugular shunt, additional thrombotic events and progressive liver damage were observed. Eculizumab therapy was initiated, resulting in rapid blockade of intravascular hemolysis, increased platelet counts, ascites resolution, and liver function recovery, all of which are presently sustained. Since starting eculizumab the patient has had no further thrombotic events and his quality of life has dramatically improved. This is the first report to confirm the role of complement-mediated injury in the progression of Budd-Chiari syndrome in a patient with PNH. This case shows that terminal complement blockade with eculizumab can reverse progressive thromboses and hepatic failure that is unresponsive to anticoagulation therapy and suggests that early initiation of eculizumab should be included in the therapeutic regimen of patients with PNH-related Budd-Chiari syndrome. PMID:23210433

  13. Three-dimensional imaging of redundant Chiari's network prolapsing into right ventricle.

    PubMed

    Betrián Blasco, Pedro; Sarrat Torres, Rebeca; Pijuan Domènech, Maria Antonia; Marimón Blanch, Cristina; Pérez Herrera, Verónica; Girona Comas, Josep

    2008-02-01

    An asymptomatic 1-month-old girl was studied in another institution because of the presence of a cardiac murmur, and referred to our center for further evaluation as a result of tricuspid valve abnormalities detected in the echocardiographic study. Echocardiography revealed a very redundant, thin, freely mobile structure in the right atrium, moving rapidly in (systole) and out (diastole) of the right ventricle through the tricuspid orifice. It arose from near the border of the inferior vena cava and attached to the atrial wall close to the coronary sinus ostium, suggesting an unusually prominent Chiari's network. Three-dimensional imaging allowed definition of the structure in all the planes and dimensions, and the relationship of the structure with right atrium and ventricle. Chiari's network is an embryonic remnant present in 2% to 3% of the population. The identification of a Chiari's network is important because the widely mobile structure within the right atrium can be confused with other entities, such as right heart vegetation, flail tricuspid leaflet, ruptured chordae tendinae, or a thrombus.

  14. Familial Budd-Chiari Syndrome in China: A Systematic Review of the Literature

    PubMed Central

    Qi, Xingshun; Wang, Juan; Ren, Weirong; Bai, Ming; Yang, Man; Han, Guohong; Fan, Daiming

    2013-01-01

    Familial occurrence of Budd-Chiari syndrome (BCS) has been reported in scattered cases, which potentially favors the congenital theory. A review of the literature was conducted to demonstrate this phenomenon in China. PubMed, VIP, and CNKI databases were searched for studies describing at least two Chinese BCS patients from the same one family. In the 18 eligible papers, 30 siblings or first-degree relatives from 14 families were diagnosed with BCS at 9 different centers. Common clinical presentations included varices of abdominal wall and lower limbs, edema of legs, and ascites. Type and location of obstruction were similar among these patients from the same one family. Screening for BCS was conducted in 65 family members from 3 families, demonstrating that 2 asymptomatic siblings from one family were further diagnosed with BCS. Factor V Leiden mutation was found in 3 of 4 patients from one family and in one of 2 patients from another one family. Prothrombin G20210A gene mutation was found in none of the 4 patients from the 2 families. In conclusion, our study showed the possibility of familial aggregation in Chinese BCS patients, but these available data cannot support the previous hypothesis that familial BCS originates from congenital vascular malformation. PMID:27335832

  15. 5 Things You Didn’t Know About Astronaut Ricky Arnold

    NASA Image and Video Library

    2018-03-20

    Nine years after his first trip to space, NASA’s Ricky Arnold is ready to begin his next adventure: a long-duration flight to the International Space Station. The former classroom teacher will be the point man for Year of Education on Station tasks during his mission, but his experience in schools around the world might match what he’ll gain while circling the world—check out 5 Things You Didn’t Know About Astronaut Ricky Arnold: Teacher Edition! HD Download link: https://archive.org/details/jsc2018m000151_5_Things_You_Didnt_Know_About_Astronaut_Ricky_Arnold _______________________________________ Follow Ricky's mission: Instagram: @astro_ricky Twitter: @astro_ricky FOLLOW THE SPACE STATION! Twitter: https://twitter.com/Space_Station Facebook: https://www.facebook.com/ISS Instagram: https://instagram.com/iss/

  16. jsc2017m001162_AstroMoment_RickyArnold_MP4

    NASA Image and Video Library

    2018-03-21

    Astronaut Moments with NASA astronaut Ricky Arnold----------------------------------- Ricky Arnold was selected to be an astronaut 2004. Before his NASA career, he worked in the marine sciences and as a teacher in places like Morocco, Saudi Arabia, and Indonesia. He recalls watching the Challenger accident with Christa McAuliffe, NASA’s first “Teacher in Space”. During his mission to the International Space Station launching on March 21, 2018, Ricky will conduct some of the lost lessons that Christa had planned to film during her mission. Learn more: https://www.nasa.gov/feature/nasa-challenger-center-collaborate-to-perform-christa-mcauliffe-s-legacy-experiments https://www.nasa.gov/astronauts/biographies/richard-r-arnold https://www.nasa.gov/press-release/nasa-television-coverage-set-for-space-station-crew-launch-docking

  17. Intradural pathology and pathophysiology associated with Chiari I malformation in children and adults with and without syringomyelia.

    PubMed

    Dlouhy, Brian J; Dawson, Jeffrey D; Menezes, Arnold H

    2017-12-01

    OBJECTIVE The pathophysiology underlying tonsillar herniation and CSF obstruction in Chiari malformation Type I (CM-I) is unclear, and the cause of CM-I-associated syringomyelia is not well understood. A better understanding of this pathophysiology is important for an improved treatment strategy. Therefore, the authors sought to identify, characterize, and examine the intradural pathology and CSF flow pathophysiology in the posterior fossa and at the level of the foramen magnum that occurs in the setting of CM-I. They determined the incidence of these intradural findings and assessed differences across age, with the degree of tonsillar herniation, and in the presence and absence of syringomyelia. METHODS A prospective database initiated in March 2003 recorded all intraoperative findings during surgical treatment of children and adults with CM-I with or without syringomyelia. A total of 389 surgeries for CM-I were performed in 379 patients between March 2003 and June 2016. A total of 109 surgeries were performed in 109 patients with CM-I (without osseoligamentous abnormalities) in whom both a posterior fossa extradural and intradural decompression with duraplasty was performed (first-time intradural procedures). Using a surgical microscope, intradural pathology and obstruction of CSF channels were identified and assessed. Student t-tests and Fisher's exact tests compared groups in a series of univariate analyses, followed by multivariate logistic regression. RESULTS The following intradural pathological entities were observed (prevalence noted in parentheses). These include those that did not obstruct CSF flow channels: opacified arachnoid (33.0%), thickened arachnoid (3.7%), ischemic and gliotic tonsils (40.4%), tonsillar cysts (0.9%), and inferior descent of the fourth ventricle and cervicomedullary junction (CMJ) (78.0%). The following intradural pathological entities were observed to obstruct CSF flow channels: medialized tonsils (100%), tonsil overlying and

  18. PEOPLE IN PHYSICS: Interview with Sir Arnold Wolfendale FRS

    NASA Astrophysics Data System (ADS)

    Wiltsher, Conducted by Nicholas

    1997-11-01

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

  19. The Arnol'd cat: Failure of the correspondence principle

    NASA Astrophysics Data System (ADS)

    Ford, Joseph; Mantica, Giorgio; Ristow, Gerald H.

    1991-07-01

    The classical Hamiltonian H = p2/2 m + ɛ( q2/2) Σδ[ s-( t/ T)] has an integrable mapping of the plane, [ qn+1 , pn+1 ]= [ qn+1 + pn, qn+2 pn], as its equations of motion. But then by introducing periodic boundary conditions via (mod 1) applied to both q and p variables, the equations of motion become the Arnol'd cat map, [ qn+1 , pn+1 ] = [ qn + pn, qn + 2 pn], (mod 1), revealing it to be one of the simplest fully chaotic systems which can be derived from a Hamiltonian and analyzed. Consequently, we here quantize the Arnol'd cat and examine its quantum motion for signs of chaos using algorithmic complexity as the litmus. Our analysis reveals that the quantum cat is not chaotic in the deep quantum domain nor does it become chaotic in the classical limit as required by the correspondence principle. We therefore conclude that the correspondence principle, as defined herein, fails for the quantum Arnol'd cat.

  20. A case-control study of cerebellar tonsillar ectopia (Chiari) and head/neck trauma (whiplash).

    PubMed

    Freeman, Michael D; Rosa, Scott; Harshfield, David; Smith, Francis; Bennett, Robert; Centeno, Christopher J; Kornel, Ezriel; Nystrom, Ake; Heffez, Dan; Kohles, Sean S

    2010-01-01

    Chiari malformation is defined as herniation of the cerebellar tonsils through the foramen magnum, also known as cerebellar tonsillar ectopia (CTE). CTE may become symptomatic following whiplash trauma. The purpose of the present study was to assess the frequency of CTE in traumatic vs non-traumatic populations. Case-control. Cervical MRI scans for 1200 neck pain patients were reviewed; 600 trauma (cases) and 600 non-trauma (controls). Half of the groups were scanned in a recumbent position and half were scanned in an upright position. Two radiologists interpreted the scans for the level of the cerebellar tonsils. A total of 1195 of 1200 scans were read. CTE was found in 5.7% and 5.3% in the recumbent and upright non-trauma groups vs 9.8% and 23.3% in the recumbent and upright trauma groups (p = 0.0001). The results described in the present investigation are first to demonstrate a neuroradiographic difference between neck pain patients with and without a recent history of whiplash trauma. The results of prior research on psychosocial causes of chronic pain following whiplash are likely confounded because of a failure to account for a possible neuropathologic basis for the symptoms.

  1. Congratulations to Vladimir Igorevich Arnol'd

    NASA Astrophysics Data System (ADS)

    2007-06-01

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

  2. Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype

    PubMed Central

    Van Bruggen, Leonie W. L.; Eggelmeijer, Wieteke; Noorman, Erik; Jacques, Arnold; Buys, Nadine; Janssens, Steven

    2017-01-01

    Chiari-like malformation (CM), syringomyelia (SM) and middle ear effusion (also called PSOM) are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS). Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British Veterinary Association’s Kennel Club (BVA/KC) scheme. This study evaluated the prevalence and estimated genetic parameter of CM, SM and middle ear effusion from 12 years of screening results. For SM, the classical method using the BVA/KC scheme, was compared with exact measuring of the central canal dilation. For CM, the BVA/KC scheme was compared with a more detailed scheme. Next to this the presence of microchip artifacts was assessed. 1249 screening of 1020 dogs were re-evaluated. Results indicated the presence of CM in all dogs, suggesting it has become a breed-specific characteristic. And although different grades of CM were observed, the condition did not deteriorate over time. SM was present in 39% of the dogs and a clear age effect was demonstrated, with SM increasing with age. This emphasizes the importance of screening at appropriate age, since SM can worsen with increasing age. One alternative is to promote repeated measures. The presence of middle ear effusion in this study was 19%–21% for dogs younger than 3 years, and 32%–38% for dogs older than 3 years. In as much as 60%, microchip artifacts were noticed, leading to the recommendation to place microchips in another location in breeds that are susceptible to developing SM. Finally, this study estimated the heritability of CM in this population, due to the lack of phenotypic variance, to be very low at 0.02–0.03. The heritability for SM central canal dilatation to be 0.30, compared to 0.13 for the classical BVA/KC method, using a model including the age effect and the combined effect of veterinary clinic and year of the evaluation. Genetic correlations were rather small, ranging from 0.16–0.33. As a

  3. Final Environmental Assessment: Construction of New Arnold Village Sewage Treatment Plant Arnold Air Force Base, Tennessee

    DTIC Science & Technology

    2004-05-01

    from the north. Most of the birds winter in western parts of the state, particularly at Reelfoot Lake and Dale Hollow Reservoir, but bald eagles may...Hydrology Hydrological features consist of surface waters ( lakes , rivers, streams, and springs) and groundwater. Arnold AFB lies within the Duck River and

  4. What Arnold Gesell Would Advocate Today

    ERIC Educational Resources Information Center

    Bergen, Doris

    2017-01-01

    The first issue of "Childhood Education," published in 1924, included an article by the eminent physician, Arnold Gesell. In the article, "The Significance of the Nursery School" he advocated for early childhood education, indicating its importance for both promoting the development of young children and supporting and…

  5. Budd-Chiari syndrome and liver transplantation

    PubMed Central

    Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

    2015-01-01

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

  6. Matthew Arnold and Minimal Competency Testing.

    ERIC Educational Resources Information Center

    Tuman, Myron C.

    1979-01-01

    Presents arguments by Robert Lowe and Matthew Arnold on the 19th century British "Payment by Results" Plan, whereby schools received funds for students who passed minimal competency tests. Emphasizes that the Victorian experience produced acrimonious teachers with low morale and encourages contemporary minimal testing advocates not to…

  7. General Henry Arnold Visits the Aircraft Engine Research Laboratory

    NASA Image and Video Library

    1944-11-21

    General Henry “Hap” Arnold, Commander of the US Army Air Forces during World War II, addresses the staff at the National Advisory Committee for Aeronautics (NACA) Aircraft Engine Research Laboratory on November 9, 1944. Arnold told the employees assembled in the hangar, “You’ve got a dual task. You’ve got a job ahead of you to keep the army and the navy air forces equipped with the finest equipment that you can for this war. You also have the job of looking forward into the future and starting now those developments, those experiments, that are going to keep us in our present situation—ahead of the world in the air. And that is quite a large order, and I leave it right in your laps.” Arnold served on the NACA’s Executive Committee in Washington from 1938 to 1944 and had been a strong advocate for the creation of the new engine research facility in Cleveland. Arnold believed in continual research and development. He pressed the nation’s aviation leaders to pursue the new jet engine technology, while simultaneously pushing to increase the performance of the nation’s largest piston engine for the B–29 Superfortress program. The general’s hectic wartime agenda limited his visit to the Cleveland laboratory to just a few hours, but he toured several of the NACA’s new test facilities including the Static Jet Propulsion Laboratory, the Icing Research Tunnel, and a B–24 Liberator in the hangar.

  8. STS-119 Extravehicular Activity (EVA) 1 Arnold in EMU

    NASA Image and Video Library

    2009-03-19

    ISS018-E-041089 (19 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, participates in the mission's first scheduled session of extravehicular activity (EVA) as construction and maintenance continue on the International Space Station. During the six-hour, seven-minute spacewalk, Arnold and astronaut Steve Swanson (out of frame), mission specialist, connected bolts to permanently attach the S6 truss segment to S5. The spacewalkers plugged in power and data connectors to the truss, prepared a radiator to cool it, opened boxes containing the new solar arrays and deployed the Beta Gimbal Assemblies containing masts that support the solar arrays.

  9. Joint hypermobility and headache: the glue that binds the two together--part 2.

    PubMed

    Martin, Vincent T; Neilson, Derek

    2014-09-01

    Past studies have reported that connective tissue disorders (CTDs) are more common in patients with specific types of headache disorders. The objectives of this study are (1) to review and critique the clinical studies reporting an association between joint hypermobility, CTDs and headache and (2) to postulate mechanisms though which CTDs might predispose to headache disorders. PubMed was searched for relevant articles with search terms that included joint hypermobility, Ehlers-Danlos syndrome, Marfan syndrome, and specific headache disorders. A narrative review was performed of these articles as well as those identified from the bibliography of these articles. Case reports and case control studies confirm an association between CTDs and migraine, coat-hanger headaches, carotid arterial dissections, intracranial hypotension, Arnold Chiari malformations-type 1, cervical spine disorders, and temporomandibular joint disorders. Observational cross-sectional studies suggest that the prevalence of CTDs is increased in patients with specific types of headache disorders. It is unknown if the CTDs directly cause these headaches disorders or are associated with them through other mechanisms. © 2014 American Headache Society.

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

    ERIC Educational Resources Information Center

    Dietz, Mark David

    2010-01-01

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

  11. Pathological findings in dicephalus dipus dibrachius: implications for mechanisms in two pairs of lateral conjoined twins.

    PubMed

    Itoh, K; Imai, Y; Obayashi, C; Hayashi, Y; Hanioka, K; Itoh, H

    1993-06-01

    The anatomical and pathological features of two pairs of dicephalic conjoined twins (case 1 and 2) are described. Both twins showed duplicitas lateralis representing diprosopus dipus dibrachius. There were two complete heads on two necks, one thorax, one abdomen and externally normal two arms and two legs. Case 1 showed dicephalus with anencephaly, two vertebral columns and two spinal cords, which converged from the thoracic region distally. The esophagus, stomachs and partial small intestines were duplicated, which fused at yolk sac (with Meckel's diverticulum). The heart was incompletely fused. The lungs and trachea were doubled. Two spinal cords were fused from the thoracic region caudally and showed myelomeningocele and Arnold-Chiari malformation in case 2. Two larynxes and two thracheas connected with the incompletely fused three lobes of lungs. The conjoined lungs were hypoplastic. The heart was single, showing ventral septal defect, transposition of great arteries, two cuspid aortic valves and preductal aortic coarctation. The duplicated esophagi were conjoined in Y-shape and single stomach, duodenum, intestine and colon were found. There were pairs of kidneys, adrenal glands and ureters and single female genitalia in both cases. These findings indicate that the craniocaudal paleoaxes were separated in the cranial region and converted or fused under the thoracic region like a Y-shape. Further development defects and deformations might be important factors to form malformations in these case.

  12. Primary Budd-Chiari Syndrome in Children: King's College Hospital Experience.

    PubMed

    Nobre, Susana; Khanna, Rajeev; Bab, Natalie; Kyrana, Eirini; Height, Sue; Karani, John; Kane, Pauline; Heaton, Nigel; Dhawan, Anil

    2017-07-01

    Primary Budd-Chiari syndrome is a rare cause of liver disease in children in the western world. Here we present a retrospective review of children with Primary Budd-Chiari syndrome presenting from January 2001 to November 2015 to our hospital. Seven children were identified. Their presentation was mostly chronic. All had predisposing factors for thrombosis and were started on anticoagulation. Radiological interventions (2 transjugular intrahepatic portosystemic shunts and 1 hepatic vein stenting), liver transplant and mesocaval shunt were done in 3, 2, and 1 patients, respectively; 1 child underwent bone marrow transplantation following transjugular intrahepatic portosystemic shunts and 1 child was managed only medically. After liver transplantation, one child died 3 years later as a result of subarachnoid haemorrhage, whereas others remain well at a median follow-up of 6 years. Despite high morbidity, the disease can have a good long-term outcome with a multidisciplinary approach.

  13. Arnold Gesell and the maturation controversy.

    PubMed

    Dalton, Thomas C

    2005-01-01

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

  14. Arnold B. Arons (1916-2001)

    NASA Astrophysics Data System (ADS)

    Warren, Bruce A.

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

  15. 75 FR 6737 - FPL Energy Duane Arnold, LLC; Notice of Availability of the Draft Supplement 42 to the Generic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-10

    ... NUCLEAR REGULATORY COMMISSION [Docket No. 50-331; NRC-2010-0048] FPL Energy Duane Arnold, LLC... License Renewal of Nuclear Plants, and Public Meeting for the License Renewal of Duane Arnold Energy... of operation for Duane Arnold Energy Center (DAEC). DAEC is located near Cedar Rapids, Iowa...

  16. Prosocial Youth: The Legacy of Arnold Goldstein

    ERIC Educational Resources Information Center

    Amendola, Mark; Oliver, Robert

    2008-01-01

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

  17. Difusión de Arnold en un modelo simple

    NASA Astrophysics Data System (ADS)

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

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

  18. Amphibian malformations

    USGS Publications Warehouse

    ,

    1998-01-01

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

  19. Fetal Endoscopic Surgery for Spina Bifida

    ClinicalTrials.gov

    2017-10-16

    Neural Tube Defects; Spina Bifida, Open; Myelomeningocele; Fetal Disease; Hydrocephalus; Chiari Malformation Type 2; Congenital Abnormality; Surgery; Maternal, Uterus or Pelvic Organs, Affecting Fetus

  20. Changes in CSF flow after one-stage posterior vertebral column resection in scoliosis patients with syringomyelia and Chiari malformation type I.

    PubMed

    Wang, Yingsong; Xie, Jingming; Zhao, Zhi; Zhang, Ying; Li, Tao; Si, Yongyu

    2013-05-01

    Phase contrast-cine MRI (PC-cine MRI) studies in patients with syringomyelia and Chiari malformation Type I (CM-I) have demonstrated abnormal CSF flow across the foramen magnum, which can revert to normal after craniocervical decompression with syrinx shrinkage. In order to investigate the mechanisms leading to postoperative syringomyelia shrinkage, the authors studied the hydrodynamic changes of CSF flow in the craniocervical junction and spinal canal in patients with scoliosis associated with syringomyelia after one-stage deformity correction by posterior vertebral column resection. Preoperative and postoperative CSF flow dynamics at the levels of the foramen magnum, C-7, T-7 (or apex), and L-1 were assessed by electrocardiogram-synchronized cardiac-gated PC-cine MRI in 8 adolescent patients suffering from severe scoliosis with syringomyelia and CM-I (scoliosis group) and undergoing posterior vertebral column resection. An additional 8 patients with syringomyelia and CM-I without spinal deformity (syrinx group) and 8 healthy volunteers (control group) were also enrolled. Mean values were obtained for the following parameters: the duration of a CSF cycle, the duration of caudad CSF flow (CSF downflow [DF]) and cephalad CSF flow (CSF upflow [UF]), the ratio of DF duration to CSF cycle duration (DF%), and the ratio of UF duration to CSF cycle duration (UF%). The ratio of the stationary phase (SP) duration to CSF cycle duration was calculated (SP%). The maximum downflow velocities (VD max) and maximum upflow velocities (VU max) were measured. SPSS (version 14.0) was used for all statistical analysis. Patients in the scoliosis group underwent one-stage posterior vertebral column resection for deformity correction without suboccipital decompression. The mean preoperative coronal Cobb angle was 102.4° (range 76°-138°). The mean postoperative Cobb angle was 41.7° (range 12°-75°), with an average correction rate of 59.3%. During the follow-up, 1 patient with

  1. The Cervical Spinal Canal Tapers Differently in Patients with Chiari I with and without Syringomyelia.

    PubMed

    Thompson, A; Madan, N; Hesselink, J R; Weinstein, G; Munoz del Rio, A; Haughton, V

    2016-04-01

    The cause of syringomyelia in patients with Chiari I remains uncertain. Cervical spine anatomy modifies CSF velocities, flow patterns, and pressure gradients, which may affect the spinal cord. We tested the hypothesis that cervical spinal anatomy differs between Chiari I patients with and without syringomyelia. We identified consecutive patients with Chiari I at 3 institutions and divided them into groups with and without syringomyelia. Five readers measured anteroposterior cervical spinal diameters, tonsillar herniation, and syrinx dimensions on cervical MR images. Taper ratios for C1-C7, C1-C4, and C4-C7 spinal segments were calculated by linear least squares fitting to the appropriate spinal canal diameters. Mean taper ratios and tonsillar herniation for groups were compared and tested for statistical significance with a Kruskal-Wallis test. Inter- and intrareader agreement and correlations in the data were measured. One hundred fifty patients were included, of which 49 had syringomyelia. C1-C7 taper ratios were smaller and C4-C7 taper ratios greater for patients with syringomyelia than for those without it. C1-C4 taper ratios did not differ significantly between groups. Patients with syringomyelia had, on average, greater tonsillar herniation than those without a syrinx. However, C4-C7 taper ratios were steeper, for all degrees of tonsil herniation, in patients with syringomyelia. Differences among readers did not exceed differences among patient groups. The tapering of the lower cervical spine may contribute to the development of syringomyelia in patients with Chiari I. © 2016 by American Journal of Neuroradiology.

  2. Image encryption with chaotic map and Arnold transform in the gyrator transform domains

    NASA Astrophysics Data System (ADS)

    Sang, Jun; Luo, Hongling; Zhao, Jun; Alam, Mohammad S.; Cai, Bin

    2017-05-01

    An image encryption method combing chaotic map and Arnold transform in the gyrator transform domains was proposed. Firstly, the original secret image is XOR-ed with a random binary sequence generated by a logistic map. Then, the gyrator transform is performed. Finally, the amplitude and phase of the gyrator transform are permutated by Arnold transform. The decryption procedure is the inverse operation of encryption. The secret keys used in the proposed method include the control parameter and the initial value of the logistic map, the rotation angle of the gyrator transform, and the transform number of the Arnold transform. Therefore, the key space is large, while the key data volume is small. The numerical simulation was conducted to demonstrate the effectiveness of the proposed method and the security analysis was performed in terms of the histogram of the encrypted image, the sensitiveness to the secret keys, decryption upon ciphertext loss, and resistance to the chosen-plaintext attack.

  3. A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation.

    PubMed

    Botelho, Ricardo Vieira; Bittencourt, Lia Rita Azeredo; Rotta, José Marcos; Tufik, Sergio

    2003-12-01

    Craniovertebral junction malformation (CVJM) or Chiari malformation in adults, with or without syringomyelia and basilar invagination, produces neuronal dysfunction of the brainstem, cerebellum, cranial nerves, and upper spinal cord. The respiratory center and some of its afferent and efferent components can be altered in these diseases. The authors studied patients with and without CVJM to determine whether this physical feature contributed to sleep disturbances. Respiratory manifestations during sleep were studied prospectively, by using whole-night polysomnography, in 32 symptomatic patients (CVJM group) and 16 healthy volunteers (control group). Patients with CVJM presented with more sleep disturbances (reports of snoring and apnea) than those in the control group. The apnea/hypopnea index values were higher in patients with CVJMs than in the control group (13 +/- 15 compared with 3 +/- 6; p = 0.007) and the rate of central sleep apneas was higher in the CVJM than in the control group (22 +/- 30 compared with 4 +/- 8%; p = 0.009). The apnea/hypopnea index was highest in the subgroup with basilar invagination than in the other subgroups. The central apneic episodes were more frequent in the patients with basilar invagination (35 +/- 40%; p = 0.001) and in those with syringomyelia (17.6 +/- 24.6%; p = 0.003) than in the control group (4 +/- 8%). Patients with symptomatic CVJM, especially those with basilar invagination, presented with more sleep respiratory compromise than did those in the control group. The incidence of sleep apnea/hypopnea syndrome is significantly higher in patients with CVJM.

  4. Budd-Chiari syndrome with upper gastrointestinal hemorrhage: Characteristic and long-term outcomes of endovascular treatment.

    PubMed

    Zhou, Peng-Li; Wu, Gang; Han, Xin-Wei; Yan, Lei; Zhang, Wen-Guang

    2017-12-01

    Purpose To identify the characteristics and evaluate the long-term outcomes of endovascular treatment of Budd-Chiari syndrome with upper gastrointestinal hemorrhage. Methods Forty-seven consecutive Budd-Chiari syndrome patients with upper gastrointestinal hemorrhage were referred for the treatment with percutaneous transluminal balloon angioplasty, and subsequently underwent follow-up. Data were retrospectively collected and follow-up observations were performed at 1, 2, 2-5, and 5-8 years postoperatively. Results Cirrhosis was presented in 16 patients, and splenoportography reviewed obvious varices in 18 patients. Percutaneous transluminal balloon angioplasty was technically successful in all patients. Major procedure-related complications occurred in 3 of the 47 patients (6.38%). The cumulative 1, 2, 2-5, and 5-8 year primary patency rates were 100% (46/46), 93.2% (41/44), 90.9% (40/44), and 86.4% (19/22), respectively. The cumulative 1, 2, 2-5, and 5-8 year secondary patency rates were 100% (47/47), 100% (44/44), 100% (44/44), and 95.5% (21/22), respectively. Mean and median duration of primary patency was 65.17 ± 3.78 and 69.0 ± 5.69 months, respectively. No upper gastrointestinal hemorrhage recurred during follow-ups. The mean survival time was 66.97 ± 3.61 months and the median survival time was 69.0 ± 4.10 months. Conclusion PTBA was an effective treatment that can prevent recurrence of the life-threatening complications and ensured long-term satisfactory clinical outcomes for Budd-Chiari syndrome patients with upper gastrointestinal hemorrhage. Percutaneous transhepatic variceal embolization was not recommended for all Budd-Chiari syndrome patients with upper gastrointestinal hemorrhage.

  5. Quantum watermarking scheme through Arnold scrambling and LSB steganography

    NASA Astrophysics Data System (ADS)

    Zhou, Ri-Gui; Hu, Wenwen; Fan, Ping

    2017-09-01

    Based on the NEQR of quantum images, a new quantum gray-scale image watermarking scheme is proposed through Arnold scrambling and least significant bit (LSB) steganography. The sizes of the carrier image and the watermark image are assumed to be 2n× 2n and n× n, respectively. Firstly, a classical n× n sized watermark image with 8-bit gray scale is expanded to a 2n× 2n sized image with 2-bit gray scale. Secondly, through the module of PA-MOD N, the expanded watermark image is scrambled to a meaningless image by the Arnold transform. Then, the expanded scrambled image is embedded into the carrier image by the steganography method of LSB. Finally, the time complexity analysis is given. The simulation experiment results show that our quantum circuit has lower time complexity, and the proposed watermarking scheme is superior to others.

  6. Arnold on S1 Truss during STS-119 Extravehicular Activity (EVA) 3

    NASA Image and Video Library

    2009-03-23

    ISS018-E-042546 (23 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, participates in the mission's third scheduled session of extravehicular activity (EVA) as construction and maintenance continue on the International Space Station. During the six-hour, 27-minute spacewalk, Arnold and Joseph Acaba (out of frame), mission specialist, helped robotic arm operators relocate the Crew Equipment Translation Aid (CETA) cart from the Port 1 to Starboard 1 truss segment, installed a new coupler on the CETA cart, lubricated snares on the "B" end of the space station's robotic arm and performed a few "get ahead" tasks.

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

    ERIC Educational Resources Information Center

    Gregory, Anne

    1985-01-01

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

  8. Managing Budd-Chiari syndrome: a retrospective review of percutaneous hepatic vein angioplasty and surgical shunting

    PubMed Central

    Fisher, N; McCafferty, I; Dolapci, M; Wali, M; Buckels, J; Olliff, S; Elias, E

    1999-01-01

    BACKGROUND—The role of percutaneous hepatic vein angioplasty in the management of Budd-Chiari syndrome has not been well defined. Over a 10 year period at our unit, we have often used this technique in cases of short length hepatic vein stenosis or occlusion, reserving surgical mesocaval shunting for cases of diffuse hepatic vein occlusion or failed angioplasty. 
AIMS—To review the outcome of angioplasty and surgical shunting to define their respective roles. 
PATIENTS—All patients treated by angioplasty or surgical shunting for non-malignant hepatic vein obstruction over a ten year period from 1987 to 1996. 
METHODS—A case note review of pretreatment features and clinical outcome. 
RESULTS—Angioplasty was attempted in 21 patients with patent hepatic vein branches and was succesful in 18; in three patients treatment was unsuccessful and these patients had surgical shunts. Fifteen patients were treated by surgical shunting only. Mortality according to definitive treatment was 3/18 following angioplasty and 8/18 following surgery; in most cases this reflected high risk status prior to treatment. Venous or shunt reocclusion rates were similar for both groups and were associated with subtherapeutic warfarin in half of these cases. Most surviving patients in both groups are asymptomatic although one surgical patient has chronic hepatic encephalopathy. 
CONCLUSION—With appropriate case selection, many patients with Budd-Chiari syndrome caused by short length hepatic vein stenosis or occlusion may be managed successfully by angioplasty alone. Medium term outcome is good following this procedure provided that anticoagulation is maintained. Further follow up is required to assess for definitive benefits but we suggest that this should be included as a valid initial approach in the algorithm for management of Budd-Chiari syndrome. 

 Keywords: Budd-Chiari syndrome; short length hepatic vein stenosis; hepatic vein occlusion; percutaneous hepatic vein

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

    NASA Astrophysics Data System (ADS)

    Sui, Liansheng; Gao, Bo

    2013-06-01

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

  10. ARNOLD MESA ROADLESS AREA, ARIZONA.

    USGS Publications Warehouse

    Wolfe, Edward W.; McColly, Robert A.

    1984-01-01

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

  11. Interventional Radiology in the Management of Budd Chiari Syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Beckett, David; Olliff, Simon, E-mail: simon.olliff@uhb.nhs.u

    Budd Chiari syndrome is an uncommon condition in the Western world but interventional radiology can contribute significantly to the management of the majority of patients. This review examines the role and technique of interventions including hepatic vein dilatation and stent insertion as well as thrombolysis and TIPS. Liver transplantation and surgical shunt surgery are discussed in relation to radiological interventions. With appropriate selection and technique, surgery is only required in a minority of patients.

  12. STS-119 Extravehicular Activity (EVA) 1 Arnold in Extravehicular Mobility Unit (EMU)

    NASA Image and Video Library

    2009-03-19

    ISS018-E-041104 (19 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, participates in the mission's first scheduled session of extravehicular activity (EVA) as construction and maintenance continue on the International Space Station. During the six-hour, seven-minute spacewalk, Arnold and astronaut Steve Swanson (out of frame), mission specialist, connected bolts to permanently attach the S6 truss segment to S5. The spacewalkers plugged in power and data connectors to the truss, prepared a radiator to cool it, opened boxes containing the new solar arrays and deployed the Beta Gimbal Assemblies containing masts that support the solar arrays. The blackness of space and Earth?s horizon provide the backdrop for the scene.

  13. The association between the pulse pressure gradient at the cranio-cervical junction derived from phase-contrast magnetic resonance imaging and invasively measured pulsatile intracranial pressure in symptomatic patients with Chiari malformation type 1.

    PubMed

    Frič, Radek; Lindstrøm, Erika Kristina; Ringstad, Geir Andre; Mardal, Kent-André; Eide, Per Kristian

    2016-12-01

    In symptomatic Chiari malformation type 1 (CMI), impaired intracranial compliance (ICC) is associated with an increased cranio-spinal pulsatile pressure gradient. Phase-contrast magnetic resonance imaging (MRI) represents a non-invasive modality for the assessment of the pulse pressure gradient at the cranio-cervical junction (CCJ). We wished to explore how the MRI-derived pulse pressure gradient (MRI-dP) compares with invasively measured pulsatile intracranial pressure (ICP) in CMI, and with healthy controls. From phase-contrast MRI of CMI patients and healthy controls, we computed cerebrospinal fluid (CSF) flow velocities and MRI-dP at the CCJ. We assessed bidirectional flow and compared the flow between the anterior and the posterior subarachnoid space at the CCJ. We computed total intracranial volume (ICV), ventricular CSF volume (VV), and posterior cranial fossa volume (PCFV). We analyzed the static and pulsatile ICP scores from overnight monitoring in CMI patients. Five CMI patients and four healthy subjects were included. The CMI group had a significantly larger extent of tonsillar ectopia, smaller PCFV, and a smaller area of CSF in the FM. The pulsatile ICP (mean ICP wave amplitude, MWA) was abnormally increased in 4/5 CMI patients and correlated positively with MRI-dP. However, the MRI-dP as well as the CSF flow velocities did not differ significantly between CMI and healthy subjects. Moreover, bidirectional flow was observed in both CMI as well as healthy subjects, with no significant difference. In symptomatic CMI patients, we found a significant association between the pulse pressure gradient at the CCJ derived from phase-contrast MRI and the pulsatile ICP (MWA) measured invasively. However, the MRI-dP was close to identical in CMI patients and healthy subjects. Moreover, the CSF flow velocities at the CCJ and the occurrence of bidirectional flow were not different in CMI patients and healthy individuals. Further studies are required to determine the

  14. Comparative observational study on the clinical presentation, intracranial volume measurements, and intracranial pressure scores in patients with either Chiari malformation Type I or idiopathic intracranial hypertension.

    PubMed

    Frič, Radek; Eide, Per Kristian

    2017-04-01

    OBJECTIVE Several lines of evidence suggest common pathophysiological mechanisms in Chiari malformation Type I (CMI) and idiopathic intracranial hypertension (IIH). It has been hypothesized that tonsillar ectopy, a typical finding in CMI, is the result of elevated intracranial pressure (ICP) combined with a developmentally small posterior cranial fossa (PCF). To explore this hypothesis, the authors specifically investigated whether ICP is comparable in CMI and IIH and whether intracranial volumes (ICVs) are different in patients with CMI and IIH, which could explain the tonsillar ectopy in CMI. The authors also examined whether the symptom profile is comparable in these 2 patient groups. METHODS The authors identified all CMI and IIH patients who had undergone overnight diagnostic ICP monitoring during the period from 2002 to 2014 and reviewed their clinical records and radiological examinations. Ventricular CSF volume (VV), PCF volume (PCFV), and total ICV were calculated from initial MRI studies by using volumetric software. The static and pulsatile ICP scores during overnight monitoring were analyzed. Furthermore, the authors included a reference (REF) group consisting of patients who had undergone ICP monitoring due to suspected idiopathic normal-pressure hydrocephalus or chronic daily headache and showed normal pressure values. RESULTS Sixty-six patients with CMI and 41 with IIH were identified, with comparable demographics noted in both groups. The occurrence of some symptoms (headache, nausea, and/or vomiting) was comparable between the cohorts. Dizziness and gait ataxia were significantly more common in patients with CMI, whereas visual symptoms, diplopia, and tinnitus were significantly more frequent in patients with IIH. The cranial volume measurements (VV, PCFV, and ICV) of the CMI and IIH patients were similar. Notably, 7.3% of the IIH patients had tonsillar descent qualifying for diagnosis of CMI (that is, > 5 mm). The extent of tonsillar ectopy was

  15. [The usefullness of percutaneous transluminal balloon angioplasty in the management of budd-Chiari syndrome].

    PubMed

    Kim, Se Hwan; Yu, Kyung Sool; Baek, Seung Min; Lee, Seung Yup; Kim, Hyun Su; Tak, Won Young; Kweon, Young Oh; Kim, Sung Kook; Choi, Yong Hwan; Chung, Joon Mo

    2002-06-01

    Membranous obstruction is the most common cause of Budd-Chiari syndrome in Orientals. Recently, percutaneous transluminal balloon angioplasty (PTBA) has been successfully applied as a treatment of membranous obstruction. We evaluated etiologies and clinical manifestations in our cases and the usefulness of PTBA. Twelve cases of Budd-Chiari syndrome were analyzed. 50.3 years was the average age of the cases (ranging from 37 to 67 years). Major symptoms or signs were superficial collateral vessels on the chest or the abdomen in 6 cases, ascites in 3, abdominal pain in 4, hepatomegaly in 4, splenomegaly in 3, melena or hematemesis in 2, and leg edema in 2. Upper gastrointestinal endoscopy showed esophageal varices in 6 cases and two of these 6 cases had gastric varices. Of 8 cases with liver cirrhosis, 4 were classified as Child-Pugh class A and 4 as B. Four patients with cirrhosis had concurrent hepatocellular carcinoma including 1 patient who was HBs Ag positive. Etiologies were membranous obstruction in 11 cases and protein C deficiency in 1 case. The main site of obstruction was IVC in 8 and hepatic vein in 4. PTBA was successfully performed in 8 cases of membranous obstruction. During the mean follow-up period of 27.6 months (12-40 months), there were no reobstructions except in 2 cases. The most common cause of Budd-Chiari syndrome in our cases was membranous obstruction of IVC. Percutaneous transluminal balloon angioplasty is a very useful treatment method.

  16. [Polythelia and renal malformation].

    PubMed

    Jójárt, G; Seres, E

    1992-07-12

    The authors found 241 polythelia (5.86) among 4113 schoolchildren (aged 6-14 years). They investigated 236 of the 241 with ultrasound and found 10 renal malformations (4.24%). Among 280 controls with respiratory infection, accident or tonsillectomy they found 9 renal malformations (3.21%). With screening of 1635 neonates they found 66 with accessory nipples (4.05%). Two of the 66 had renal malformations (3.03%), while among the 1957 control neonates 37 had renal malformations (1.89%). In the hospital and ambulancy the authors found 106 polythelia, five of them had renal abnormalities (4.72%). The authors did not found association of polythelia and renal malformation with ultrasound investigation of 408 children with polythelia.

  17. A regional survey of malformed frogs in Minnesota (USA) (Minnesota malformed frogs).

    PubMed

    Vandenlangenberg, Susan M; Canfield, Jeffrey T; Magner, Joseph A

    2003-02-01

    In late 1995, school children discovered malformed frogs in a south central Minnesota pond. Press coverage resulted in numerous citizen reports of frog malformation across Minnesota in 1996. After some initial site investigation, 3 affected frog sites and 4 nearby reference sites were selected for more detailed evaluation. Field biologists made 89 visits to study sites beginning spring 1997 through fall 1999 to examine the number and type of frog malformations. Over 5,100 Leopard frogs (Rana pipiens) were captured and examined at all study sites. Water elevations and associated littoral inundation were recorded from 1997-2000. Results indicate that malformation occurred at all study sites above historical background levels. Rana pipiens malformation across all sites over three seasons averaged 7.9% and ranged from 0 to 7% at reference sites and 4 to 23% at affected sites. At one northern Minnesota site, mink frog (Rana septentrionalis) malformation was 75% in 1998. A site characteristic common to the most affected sites was an elastic zone of littoral inundation. Climate driven hydrologic variation likely influenced water depth and associated breeding locations.

  18. Vascular malformations: an update.

    PubMed

    Gloviczki, Peter; Duncan, Audra; Kalra, Manju; Oderich, Gustavo; Ricotta, Joseph; Bower, Thomas; McKusick, Michael; Bjarnason, Haraldur; Driscoll, David

    2009-06-01

    Vascular malformations occur as a result of an arrest in the development of the vascular system. The modified Hamburg classification distinguishes arterial, venous, arteriovenous, capillary, lymphatic, and mixed vascular malformations. Each malformation is further subdivided based on anatomy and on the time when arrest in development of the embryogenesis occurred; malformations can be truncular or extratruncular. Progress in the last decade in management has been significant because of improvements in open surgical procedures and perfection of percutaneous and hybrid endovascular interventions and devices, such as balloons, stents, and stent-grafts. There has been increasing use of embolization for the treatment of malformations with coils, other particles, glue, or with endovascular placement of occlusive plugs. Absolute alcohol, detergent liquids, or foam have been used for sclerotherapy with improved efficacy. The agents are delivered percutaneously or through a catheter placed either into the feeding arteries or the draining veins. This review aims to aid vascular and endovascular specialists in staying familiar with vascular malformations. These specialists need to be able to evaluate the patients, perform treatment if appropriate, or refer complex cases to multidisciplinary vascular malformation clinics and vascular centers.

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

    NASA Astrophysics Data System (ADS)

    Fré, P.; Sorin, A. S.

    2015-07-01

    In the context of mathematical hydrodynamics, we consider the group theory structure which underlies the so named ABC flows introduced by Beltrami, Arnold and Childress. Main reference points are Arnold's theorem stating that, for flows taking place on compact three manifolds ℳ3, the only velocity fields able to produce chaotic streamlines are those satisfying Beltrami equation and the modern topological conception of contact structures, each of which admits a representative contact one-form also satisfying Beltrami equation. We advocate that Beltrami equation is nothing else but the eigenstate equation for the first order Laplace-Beltrami operator ★ g d, which can be solved by using time-honored harmonic analysis. Taking for ℳ3, a torus T 3 constructed as ℝ3/Λ, where Λ is a crystallographic lattice, we present a general algorithm to construct solutions of the Beltrami equation which utilizes as main ingredient the orbits under the action of the point group B A of three-vectors in the momentum lattice *Λ. Inspired by the crystallographic construction of space groups, we introduce the new notion of a Universal Classifying Group which contains all space groups as proper subgroups. We show that the ★ g d eigenfunctions are naturally arranged into irreducible representations of and by means of a systematic use of the branching rules with respect to various possible subgroups we search and find Beltrami fields with non trivial hidden symmetries. In the case of the cubic lattice the point group is the proper octahedral group O24 and the Universal Classifying Group is a finite group G1536 of order |G1536| = 1536 which we study in full detail deriving all of its 37 irreducible representations and the associated character table. We show that the O24 orbits in the cubic lattice are arranged into 48 equivalence classes, the parameters of the corresponding Beltrami vector fields filling all the 37 irreducible representations of G1536. In this way we obtain an

  20. A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions

    PubMed Central

    Eppelheimer, Maggie S.; Houston, James R.; Bapuraj, Jayapalli R.; Labuda, Richard; Loth, Dorothy M.; Braun, Audrey M.; Allen, Natalie J.; Heidari Pahlavian, Soroush; Biswas, Dipankar; Urbizu, Aintzane; Martin, Bryn A.; Maher, Cormac O.; Allen, Philip A.; Loth, Francis

    2018-01-01

    Purpose: Researchers have sought to better understand Chiari type I malformation (CMI) through morphometric measurements beyond tonsillar position (TP). Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. CMI is also associated with different prevalent conditions (PCs) such as syringomyelia, pseudotumor, Ehlers-Danlos syndrome (EDS), scoliosis, and craniocervical instability. The goal of this study was two-fold: (1) to identify unique morphological characteristics of PCs, and (2) to better explain inconsistent results from case-control comparisons of CMI. Methods: Image, demographic, and PC information was obtained through the Chiari1000, a self-report web-accessed database. Twenty-eight morphometric measurements (MMs) were performed on the cranial MR images of 236 pre-surgery adult female CMI participants and 140 female healthy control participants. Custom software was used to measure 28 structures within the posterior cranial fossa (PCF) compartment, craniocervical junction, oral cavity, and intracranial area on midsagittal MR images for each participant. Results: Morphometric analysis of adult females indicated a smaller McRae line length in CMI participants with syringomyelia compared to those without syringomyelia. TP was reduced in CMI participants with EDS than those without EDS. Basion to posterior axial line was significantly longer in CMI participants with scoliosis compared to those without scoliosis. No additional MMs were found to differ between CMI participants with and without a specific PC. Four morphometric differences were found to be consistently different between CMI participants and healthy controls regardless of PC: larger TP and a smaller clivus length, fastigium, and corpus callosum height in CMI participants. Conclusion: Syringomyelia, EDS, and

  1. Simulating transitional hydrodynamics of the cerebrospinal fluid at extreme scale

    NASA Astrophysics Data System (ADS)

    Jain, Kartik; Roller, Sabine; Mardal, Kent-Andre

    Chiari malformation type I is a disorder characterized by the herniation of cerebellar tonsils into the spinal canal through the foramen magnum resulting in obstruction to cerebrospinal fluid (CSF) outflow. The flow of pulsating bidirectional CSF is of acutely complex nature due to the anatomy of the conduit containing it - the subarachnoid space. We report lattice Boltzmann method based direct numerical simulations on patient specific cases with spatial resolution of 24 μm amounting meshes of up to 2 billion cells conducted on 50000 cores of the Hazelhen supercomputer in Stuttgart. The goal is to characterize intricate dynamics of the CSF at resolutions that are of the order of Kolmogorov microscales. Results unfold velocity fluctuations up to ~ 10 KHz , turbulent kinetic energy ~ 2 times of the mean flow energy in Chiari patients whereas the flow remains laminar in a control subject. The fluctuations confine near the cranio-vertebral junction and are commensurate with the extremeness of pathology and the extent of herniation. The results advocate that the manifestation of pathological conditions like Chiari malformation may lead to transitional hydrodynamics of the CSF, and a prudent calibration of numerical approach is necessary to avoid overlook of such phenomena.

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

    PubMed

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

    2015-01-01

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

  3. Cost-Effectiveness of Postoperative Ketamine in Chiari Decompression.

    PubMed

    McDowell, Michael M; Alhourani, Ahmad; Pearce-Smith, Beverly A; Mazurkiewicz, Anna; Friedlander, Robert M

    2018-02-01

    In Chiari I patients, postoperative pain and discomfort frequently slow the transition back to the home setting. We sought to determine the effect of standardized ketamine infusion protocols on hospital length of stay (LOS). This retrospective cohort study reviewed 100 consecutive adult patients undergoing Chiari I decompression. Fifty-nine patients were placed on a 2-3 mg/hr ketamine drip until postoperative day 1. This group was compared with a group who received 2-3 mg/hr of ketamine until postoperative day 2 (19 patients) and patients who did not receive ketamine at all (22 patients). Clinical characteristics, opioid use, LOS, and relative hospitalization costs were assessed. All narcotic amounts were converted into milligram equivalents of morphine. LOS of the short-ketamine group was 46.5 hours when compared with the long-ketamine group (66.8 hours) and no-ketamine group (56.9 hours). There was a statistically significant difference when comparing the short-ketamine group with the long-ketamine group and no-ketamine group together (P < 0.001), as well as when compared individually (P = 0.001 and 0.004). The mean cost of hospitalization was 20% less when a short-ketamine protocol was used (P < 0.001). Mean morphine milligram equivalents used postoperatively were 148 mg in the short-ketamine group, 196 mg in the long-ketamine group, and 187 mg in the no-ketamine group (P = 0.65). No adverse events from ketamine were noted. Ketamine at subanesthetic levels may be an effective tool to facilitate early return home postoperatively and may significantly reduce medical costs. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik

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

  5. 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)

    Sevryuk, Mikhail B.

    2014-11-01

    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].

  6. Neural Crest Origins of the Neck and Shoulder

    PubMed Central

    Matsuoka, Toshiyuki; Ahlberg, Per E.; Kessaris, Nicoletta; Iannarelli, Palma; Dennehy, Ulla; Richardson, William D.; McMahon, Andrew P.; Koentges, Georgy

    2005-01-01

    Summary The neck and shoulder region of vertebrates has undergone a complex evolutionary history. In order to identify its underlying mechanisms we map the destinations of embryonic neural crest and mesodermal stem cells using novel Cre-recombinase mediated transgenesis. The single-cell resolution of this genetic labelling reveals cryptic cell boundaries traversing seemingly homogeneous skeleton of neck and shoulders. Within this complex assembly of bones and muscles we discern a precise code of connectivity that mesenchymal stem cells of neural crest and mesodermal origin both obey as they form muscle scaffolds. Neural crest anchors the head onto the anterior lining of the shoulder girdle, while a Hox gene controlled mesoderm links trunk muscles to the posterior neck and shoulder skeleton. The skeleton that we identify as neural crest is specifically affected in human Klippel-Feil syndrome, Sprengel’s deformity and Arnold-Chiari I/II malformation, providing first insights into their likely aetiology. We identify genes involved in the cellular modularity of neck and shoulder skeleton and propose a new methodology for determining skeletal homologies that is based on muscle attachments. This has allowed us to trace the whereabouts of the cleithrum, the major shoulder bone of extinct land vertebrate ancestors which appears to survive as the scapular spine in living mammals. PMID:16034409

  7. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.

    PubMed

    Siddesh, Anjurani; Gupta, Geetika; Sharan, Ram; Agarwal, Meenal; Phadke, Shubha R

    2017-04-01

    Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

  8. Surgical management of venous malformations.

    PubMed

    Loose, D A

    2007-01-01

    Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

  9. Diagnosis and Management of Budd Chiari Syndrome: An Update

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu; Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org

    Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

  10. Bendectin and human congenital malformations.

    PubMed

    Shiono, P H; Klebanoff, M A

    1989-08-01

    The relationship between Bendectin exposure during the first trimester of pregnancy and the occurrence of congenital malformations was prospectively studied in 31,564 newborns registered in the Northern California Kaiser Permanente Birth Defects Study. The odds ratio for any major malformation and Bendectin use was 1.0 (95% confidence interval 0.8-1.4). There were 58 categories of congenital malformations; three of them were statistically associated with Bendectin exposure (microcephaly--odds ratio = 5.3, 95% confidence interval = 1.8-15.6; congenital cataract--odds ratio = 5.3, 95% confidence interval = 1.2-24.3; lung malformations (ICD-8 codes 484.4-484.8)--odds ratio = 4.6, 95% confidence interval = 1.9-10.9). This is exactly the number of associations that would be expected by chance. An independent study (the Collaborative Perinatal Project) was used to determine whether vomiting during pregnancy in the absence of Bendectin use was associated with these three malformations. Two of the three (microcephaly and cataract) had strong positive associations with vomiting in the absence of Bendectin use. We conclude that there is no increase in the overall rate of major malformations after exposure to Bendectin and that the three associations found between Bendectin and individual malformations are unlikely to be causal.

  11. A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy.

    PubMed

    Chinen, Naofumi; Koyama, Yasushi; Sato, Shinji; Suzuki, Yasuo

    2016-01-01

    A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    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

    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.

  13. Late Intrahepatic Hematoma Complicating Transjugular Intrahepatic Portosystemic Shunt for Budd-Chiari Syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Terreni, Natalia; Vangeli, Marcello; Raimondo, Maria Luisa

    Late intrahepatic hematoma is a rare complication of the transjugular intrahepatic portosystemic shunt (TIPS) procedure. We describe a patient with Budd-Chiari syndrome (BCS), who presented with a large inrahepatic hematoma 13 days after TIPS. Review of the literature reveals only two previous cases, both occurring in patients with BCS and presenting after a similar time interval. This potentially serious complication appears to be specific for TIPS in BCS.

  14. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

    PubMed Central

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

    2012-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM. PMID:27625812

  15. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

    PubMed

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

    2012-06-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

    Sundararajan, Elankovan

    2014-01-01

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

  18. Budd–Chiari Syndrome in Young Chinese: Clinical Characteristics, Etiology and Outcome of Recanalization from a Single Center

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Zhou, Wen-Jie, E-mail: 776260859@qq.com; Cui, Yan-Feng, E-mail: cuiyanfeng366@126.com; Zu, Mao-Heng, E-mail: cjr.zumaoheng@vip.163.com

    PurposeWe aimed to characterize the clinical profile, etiology, and outcomes of young Chinese patients with Budd–Chiari syndrome treated with recanalization.MethodsA total of 35 consecutive young patients (≤25 years of age) with primary Budd–Chiari syndrome treated with recanalization at our center were enrolled in this study between March 2011 and December 2014. Data on baseline information, etiology tests, therapeutic recanalization strategies, and follow-up were collected.ResultsThe most common clinical feature was ascites, present in 33 cases (94 %). Hepatic vein obstruction was present in 60 % (21/35) of patients, inferior vena cava obstruction in 3 % (1/35), and combined obstruction in 37 % (13/35). The most commonmore » risk factor for thrombosis was hyperhomocysteinemia (14/35, 40 %). Recanalization was technically successful in 32 of 35 patients (91 %), and clinically successful in 28 of these 32 patients (88 %). The cumulative 1- and 3-year primary patency rates were 75.2 and 54.3 %, respectively. The cumulative 1- and 3-year secondary patency rates were 89.3 and 89.3 %, respectively. The cumulative 1- and 3-year survival rates were 96.9 and 93.8 %, respectively.ConclusionIn this study, the most common type of lesion was hepatic vein obstruction, the most common thrombotic risk factor was hyperhomocysteinemia, and recanalization resulted in good mid-term outcomes in young Chinese patients with Budd–Chiari syndrome.« less

  19. Stories and photographs of William A. Arnold (1904-2001), a pioneer of photosynthesis and a wonderful friend.

    PubMed

    Choules, Lucinda; Govindjee

    2014-10-01

    William A. Arnold discovered many phenomena in photosynthesis. In 1932, together with Robert Emerson, he provided the first experimental data that led to the concept of a large antenna and a few reaction centers (photosynthetic unit); in 1935, he obtained the minimum quantum requirement of 8-10 for the evolution of one O2 molecule; in 1951, together with Bernard L. Strehler, he discovered delayed fluorescence (also known as delayed light emission) in photosynthetic systems; and in 1956, together with Helen Sherwood, he discovered thermoluminescence in plants. He is also known for providing a solid-state picture of photosynthesis. Much has been written about him and his research, including many articles in a special issue of Photosynthesis Research (Govindjee et al. (eds.) 1996); and a biography of Arnold, by Govindjee and Srivastava (William Archibald Arnold (1904-2001), 2014), in the Biographical Memoirs of the US National Academy of Sciences, (Washington, DC). Our article here offers a glimpse into the everyday life, through stories and photographs, of this remarkable scientist.

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

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

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

  1. Brainstem and cerebellar cavernous malformations.

    PubMed

    Atwal, Gursant S; Sarris, Christina E; Spetzler, Robert F

    2017-01-01

    Cavernous malformations are vascular lesions that occur throughout the central nervous system, most commonly in the supratentorial location, with brainstem and cerebellar cavernous malformations occurring more rarely. Cavernous malformations are associated with developmental venous anomalies that occur sporadically or in familial form. Patients with a cavernous malformation can present with headaches, seizures, sensorimotor disturbances, or focal neurologic deficits based on the anatomic location of the lesion. Patients with infratentorial lesions present more commonly with a focal neurologic deficit. Cavernous malformations are increasingly discovered incidentally due to the increasing use of magnetic resonance imaging. Understanding the natural history of these lesions is essential to their management. Observation and surgical resection are both reasonable options in the treatment of patients with these lesions. The clinical presentation of the patient, the location of the lesion, and the surgical risk assessment all play critical roles in management decision-making. © 2017 Elsevier B.V. All rights reserved.

  2. Congenital heart defects and extracardiac malformations.

    PubMed

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  3. Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

    PubMed

    Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

    2013-01-01

    We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

  4. Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease.

    PubMed

    Begum, Rukshana; Mahtab, Mamun Al; Mamun, Ayub Al; Moben, Ahmed Lutful; Hossain, Sharker Mohammad Shahadat; Das, Dulal Chandra; Malakar, Debraj; Or Rashid, Harun; Roy, Partho Protim; Rahman, Salimur

    2016-01-01

    The Budd-Chiari syndrome (BCS) is a rare disorder due to chronic liver disease (CLD), which is caused by the obstruction of hepatic venous outflow that can be located at any place from the small hepatic venules up to the entrance of the inferior vena cava (IVC) into the right atrium. Among the causes of BCS, the rarer one is coagulation factor deficiencies. Here, we report a case of BCS associated with deficiency of protein C resulting in thrombus in IVC. The patient was a 50-year-old male, who had been suffering from recurrent abdominal and leg swelling for a long period of 7 years. He was evaluated thoroughly, and other causes of liver cirrhosis were excluded. Begum R, Al Mahtab M, Al Mamun A, Moben AL, Hossain SMS, Das DC, Malakar D, Rashid HO, Roy PP, Rahman S. Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease. Euroasian J Hepato-Gastroenterol 2016;6(2):194-197.

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

    ERIC Educational Resources Information Center

    Ramos, Francisco; Krashen, Stephen

    2013-01-01

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

  6. Cerebellar and Brainstem Malformations.

    PubMed

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

    2016-08-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

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

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

    ERIC Educational Resources Information Center

    Volkov, Boris B.

    2011-01-01

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

  9. Budd-Chiari syndrome

    PubMed Central

    Martens, Pieter

    2015-01-01

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

  10. [Focus on Dandy-Walker malformation].

    PubMed

    Klein, O; Pierre-Kahn, A

    2006-09-01

    The aim of this review is to summarize our knowledge about Dandy-Walker malformation (DWM) and introduce recent notions about its prognosis. DWM is a malformation associating hypoplasia of the vermis, pseudocystic fourth ventricle, upward displacement of the tentorium, torcular and lateral sinuses and anterio-posterior enlargement of the posterior fossa. It is frequently associated with genetic anomalies, brain malformations (anomalies of gyration, grey matter heterotopias, meningoceles, corpus callosum agenesis...) or systemic malformations (heart, orthopedic, intestinal, urogenital and facial anomalies). It is also part of many syndromes. Its rarity, the difficulty of its diagnosis, the fact that the malformation is mainly known through hospitalized patients, mainly from neurosurgical departments, have made its definition variable and prevents us from having an accurate knowledge of its natural history and prognosis. Hydrocephalus, so frequent in neurosurgical series that some have included it in the definition, is actually rare as has been seen in prenatal series. Treatment, when necessary, is still controversial, the main options remaining cyst fenestration, ventriculo- and/or cystoperitoneal shunts and more recently endoscopic third ventriculostomy. The prognosis, commonly said to be unpredictable, is actually foreseeable after scrutinous observation of the brain anatomy, and mainly of the vermis. A cerebellar vermis with three groups of lobes and two main fissures, as identified on MRI T2 sagittal views, not only has the greatest chance to not be associated with other malformation but also to have a favorable neurocognitive outcome. On the contrary, a deeply dysgenetic vermis with only two or one recognizable lobes is not only constantly associated with other brain malformation but also with poor prognosis. This is a recent advance that may be important for those involved in prenatal counselling.

  11. Arnold on P3 Truss for P3 Nadir UCCAS Deployment during STS-119 Extravehicular Activity (EVA) 3

    NASA Image and Video Library

    2009-03-23

    ISS018-E-042523 (23 March 2009) --- Astronaut Richard Arnold, STS-119 mission specialist, participates in the mission's third scheduled session of extravehicular activity (EVA) as construction and maintenance continue on the International Space Station. During the six-hour, 27-minute spacewalk, Arnold and Joseph Acaba (out of frame), mission specialist, helped robotic arm operators relocate the Crew Equipment Translation Aid (CETA) cart from the Port 1 to Starboard 1 truss segment, installed a new coupler on the CETA cart, lubricated snares on the "B" end of the space station's robotic arm and performed a few "get ahead" tasks.

  12. Potentiometric surfaces of the Arnold Engineering Development Complex Area, Arnold Air Force Base, Tennessee, May and September 2011

    USGS Publications Warehouse

    Haugh, Connor J.; Robinson, John A.

    2016-01-29

    During May 2011, when water levels were near seasonal highs, water-level data were collected from 374 monitoring wells; and during September 2011, when water levels were near seasonal lows, water-level data were collected from 376 monitoring wells. Potentiometric surfaces were mapped by contouring altitudes of water levels measured in wells completed in the shallow aquifer, the upper and lower parts of the Manchester aquifer, and the Fort Payne aquifer. Water levels are generally 2 to 14 feet lower in September compared to May. The potentiometric-surface maps for all aquifers indicate a groundwater depression at the J4 test cell. Similar groundwater depressions in the shallow and upper parts of the Manchester aquifer are within the main testing area at the Arnold Engineering Development Complex at dewatering facilities.

  13. High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spinal Cord Abnormalities

    PubMed Central

    Gripp, Karen W.; Hopkins, Elisabeth; Doyle, Daniel; Dobyns, William B.

    2010-01-01

    Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal cord imaging studies in 27/28 individuals. Posterior fossa crowding with cerebellar tonsillar herniation (CBTH) was noted in 27/28 (96%), and in 10/17 (59%) with serial studies posterior fossa crowding progressed. Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%) and syrinx formation (25%). Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly. Comparison of images obtained in young infants to subsequent studies demonstrated postnatal development of posterior fossa crowding. This process of evolving megalencephaly and cerebellar enlargement is in keeping with mouse model data, delineating abnormal genesis of neurons and glia, resulting in an increased number of astrocytes and enlarged brain volume. In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation. PMID:20425820

  14. Intraspinal anomalies in early-onset idiopathic scoliosis.

    PubMed

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  15. Behçet's disease with endocarditis and the Budd-Chiari syndrome.

    PubMed Central

    McDonald, G S; Gad-Al-Rab, J

    1980-01-01

    Endocarditis of the mitral and aortic valves is described for the first time in a patient with Behçet's disease. A second patient had minor changes in the mitral valve similar to that seen in the vasculitis which occurs in this condition. Valvulitis in Behçet's disease probably has the same pathogenesis as the vasculitis. The second patient also had a rare combination of Behçet's disease and the Budd-Chiari syndrome, and the necropsy findings are described. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:7430372

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

    ERIC Educational Resources Information Center

    Banks, Alan

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

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

    NASA Astrophysics Data System (ADS)

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

    2012-08-01

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

  18. A developmental classification of malformations of the brainstem.

    PubMed

    Barkovich, A James; Millen, Kathleen J; Dobyns, William B

    2007-12-01

    With advances in imaging and genetics, malformations of the brainstem are being more commonly identified. We describe and classify brainstem anomalies in 138 patients ascertained over a period of 10 years Magnetic resonance imaging studies and, where available, clinical records of the patients were retrospectively reviewed. Malformations were segregated according to magnetic resonance findings and classified when possible by embryological mechanisms The most common location for anomalies was the pons, which was involved in 114 patients. The midbrain was involved in 45 patients, whereas the medulla was involved in 14. In 53 patients, more than 1 region was affected (all 3 regions in 6 patients, midbrain and pons in 39, and medulla and pons in 8). The malformations were divided into four groups: (1) malformations with abnormal brainstem segmentation, (2) malformations with segmental hypoplasia, (3) postsegmentation malformations, and (4) malformations associated with abnormal cortical organization The malformations of the brainstem identified in this study were diverse and complex. This proposed classification organizes them into groupings based on known genetics and embryological events. Use of this system will help clinicians and scientists to better understand these disorders and, ultimately, to better counsel families of affected patients.

  19. Associated malformations among infants with anophthalmia and microphthalmia.

    PubMed

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

    2012-03-01

    Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

  20. Rare malformation of glans penis: arteriovenous malformation.

    PubMed

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

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

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

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

  2. Dandy-Walker Malformation Presenting with Psychological Manifestations

    PubMed Central

    Dahanayake, Dulangi Maneksha Amerasinghe

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  3. Dandy-Walker Malformation Presenting with Psychological Manifestations.

    PubMed

    Rohanachandra, Yasodha Maheshi; Dahanayake, Dulangi Maneksha Amerasinghe; Wijetunge, Swarna

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.

  4. An enigmatic case presentation of Budd-Chiari syndrome with pulmonary embolism: An unusual syndrome with an uncommon complication.

    PubMed

    Al-Sharydah, A M; Al-Abdulwahhab, A H; Abu AlOla, H A

    2018-05-03

    In patients with a hypercoagulable state, such as patients with pulmonary embolism and/or Budd-Chiari syndrome, the complications from multiple gene mutations are more numerous than those from a single mutation. The authors present a woman with no major prior medical history who presented with pulmonary embolism and Budd-Chiari syndrome; this enigmatic co-occurrence has never been solely reported without underlying aetiology in a patient without prior medical conditions. A 20-year-old female presented to the emergency room complaining of a sudden onset of acute epigastric abdominal pain lasting for approximately 2 h. The patient's liver enzymes were severely elevated. Computed tomography of her abdomen showed thrombosed hepatic veins as well as supra-hepatic and hepatic portions of the inferior vena cava. She was becoming progressively hypotensive despite supplying intravenous fluid. Consequently, the patient received a contrast chest CT, which revealed the presence of acute pulmonary embolism; to confirm the diagnosis of a perfusion abnormality with normal ventilation, a clear radiograph in that region was obtained, denoting a V/Q study mismatch. Many details regarding the enigmatic mechanism behind the appearance of such a thrombotic co-occurrence in our patient are unclear. Since the anticardiolipin antibody IgG and IgM serum levels were normal, blood eosinophil count was persistently normal, and no signs of autoimmune disease were found, the diagnosis of autoimmune disease in the case under discussion is unlikely. Adding pulmonary embolism to the list of complications associated with Budd-Chiari syndrome is highly suggested, regardless of having predisposing condition(s). Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  5. Study of placenta of children born with congenital malformations.

    PubMed

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

    2003-01-01

    The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

  6. Hydrocephalus in Dandy-Walker malformation.

    PubMed

    Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore, Maria Consiglio; Ruggiero, Claudio; Trischitta, Vincenzo; Aliberti, Ferdinando; Cinalli, Giuseppe

    2011-10-01

    Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of "Dandy-Walker". An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a "real" Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.

  7. Brain Malformations

    MedlinePlus

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

  8. Personal benefits of public open space: a case study in Boston's Arnold Arboretum

    Treesearch

    Thomas A. More; John Blackwell

    1998-01-01

    Managers of urban parks need to document the benefits that their parks produce. Use level is a typical measure of such benefits, but simple use statistics can mask the rich diversity of people and activities that the parks serve. This study examined the uses and users of Boston's Arnold Arboretum during late summer in 1992. On 25 sample days, we recorded...

  9. Traumatic Transient Herniation Concomitant with Tonsillar Hemorrhagic Contusion in a Child

    PubMed Central

    Öğrenci, Ahmet; Koban, Orkun; Ekşi, Murat; Yaman, Onur; Dalbayrak, Sedat

    2017-01-01

    Downward displacement of cerebellar tonsils more than 5 mm below the foramen magnum is named as Chiari type I malformation and named benign tonsillar ectopia if herniation is less than 3 mm. It does not just depend on congenital causes. There are also some reasons for acquired Chiari Type 1 and benign tonsillar ectopia/herniation. Trauma is one of them. Trauma may increase tonsillar ectopia or may be the cause of new-onset Chiari type 1. The relationship between the tonsil contusion and its position is unclear. We present a case of pediatric age group with tonsillar herniation with a hemorrhagic contusion. Only 1 case has been presented so far in the literature. A case with unilateral tonsil contusion has not been presented to date. We will discuss the possible reasons for taking the place of the tonsils to the above level of the foramen magnum in the follow-up period, by looking at the literature. PMID:29104687

  10. Surgical Specialty Residents More Likely to Receive the Arnold P. Gold Humanism and Excellence in Teaching Award.

    PubMed

    Falcone, John L

    2015-01-01

    The Arnold P. Gold Humanism and Excellence in Teaching Awards are given by medical students to residents. The aim of this study is to evaluate the distribution of this award based on residency specialty. The hypothesis is that surgical residents more commonly receive this award. This was a retrospective study from 2004 to 2013. All award recipients were obtained from the Arnold P. Gold Foundation website. The specialties of award recipients were tabulated. The number of award winners per thousand specialty residents was estimated using the Accreditation Council for Graduate Medical Education Data Resource Book, adjusting for the number of awarding schools and resident specialties. All statistics used an α = 0.05. There were 2489 awards given during the study period, with 52.6% in medical specialties and 47.4% in surgical specialties (p = 0.45). The specialties most commonly awarded were General Surgery (22.3%), Internal Medicine (20.9%), and Obstetrics/Gynecology (20.4%). Adjusting for the number of eligible residents, there were 59.9 awards/1000 Obstetrics/Gynecology residents, 43.1 awards/1000 General Surgery residents, and 20.2 awards/1000 Internal Medicine residents (p < 0.001). Controlling for the number of eligible residents, the Arnold P. Gold Humanism and Excellence in Teaching Awards are more commonly given to surgical specialty residents. Copyright © 2015 Association of Program Directors in Surgery. Published by Elsevier Inc. All rights reserved.

  11. Biology of vascular malformations of the brain.

    PubMed

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

    2009-12-01

    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, sporadic brain arteriovenous malformation, and the arteriovenous malformations of hereditary hemorrhagic telangiectasia. Summary of Review- The identification of gene mutations and genetic risk factors associated with cerebral cavernous malformation, hereditary hemorrhagic telangiectasia, and sporadic arteriovenous malformation 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, cerebral cavernous malformation lesion formation involves a genetic 2-hit mechanism in which a germline mutation in one copy of a cerebral cavernous malformation 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. 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

  12. Arteriovenous Malformations

    MedlinePlus

    Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

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

    ERIC Educational Resources Information Center

    Christensen, Teresa M.

    2001-01-01

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

  14. Congenital malformations of the skull and meninges.

    PubMed

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  15. [A report of two Chinese familial Budd-Chiari syndrome].

    PubMed

    Feng, B; Xu, K; Jiang, H; Fu, W; Li, H; Guo, M; Liu, X; Wang, Z

    2000-09-01

    To investigate the etiology of two Chinese familial Budd-Chiari syndrome (BCS). Four patients with familial BCS (from A and B families), and the other 41 family members were detected by angiography, ultrasound Dopler, etiology analysis and Factor V Leiden (FvL) mutation analysis. Four BCS patients were proved by angiography, 2 by ultra sound Dopler in family A. Ten members in family A were varicosis in low extremeties. FvL mutation was detected in 4 of 6 patients and 2 normal family members. A II(2), A III(7, 11, 15,) B II(10) and B III(5) had FvL mutation. The FvL mutations were compatible with Mendel hereditary law. FvL mutation may be one of main risk factors and varicosis in low extremeties may be another risk factors for familial BCS.

  16. Acquired Uterine Arteriovenous Malformation and Retained Placenta Increta.

    PubMed

    Roach, Michelle K; Thomassee, May S

    2015-09-01

    Uterine arteriovenous malformations are rare and have been reported to occur after uterine trauma (eg, surgery, gestational trophoblastic disease, malignancy). A 33-year-old woman, gravida 3 para 3, presented 4 weeks post-cesarean delivery with episodic profuse vaginal bleeding. Pelvic ultrasonography and magnetic resonance imaging revealed a left uterine arteriovenous malformation. After consideration of all treatment options, total laparoscopic hysterectomy was performed. Acquired uterine arteriovenous malformations and placental ingrowth into the myometrium are increasingly reported after surgical uterine procedures. This case of a postpartum patient with both uterine arteriovenous malformation and retained placenta increta suggests a correlation between the two complications.

  17. Choledochal malformations: the Scottish experience.

    PubMed

    Yeung, Baldwin Po Man; Broadis, Emily; Maguire, Kirsty; Bradnock, Timothy J; Munro, Fraser D; Driver, Chris P; Haddock, Graham

    2012-06-01

    Excisional surgery for choledochal malformations in Scotland is currently performed in three specialist pediatric surgical centers using open or laparoscopic-assisted techniques. We reviewed the outcome of children who had excisional surgery in Scotland between 1992 and 2010. Case notes for all patients undergoing excisional surgery in any of the three specialist pediatric surgical centers in Scotland between 1992 and 2010 were retrospectively reviewed. A total of 25 patients were identified, with a female preponderance of 4:1. Of these, three patients (12%) were diagnosed by antenatal ultrasound scan. The commonest presenting symptoms were anorexia (56%), abdominal pain (52%), and jaundice (52%). Only 20% had the classical triad of abdominal pain, jaundice, and a palpable mass. Using the King's College Hospital classification, 14 patients had type 1 malformations, 8 had type 4 malformations, and 3 had type 2 malformations. Median age at operation was 2 years (range 35 days to 13.5 years). Two centers performed open excision while the third center used primarily a laparoscopic-assisted technique. Median follow-up was 2.1 years (range 30 days to 11.9 years). Three patients (12%) required repeat laparotomy. The wound infection rate was 8% (n=2). The recurrent cholangitis rate was 8% (n=2). There was one late death due to adhesive small bowel obstruction, 4 years after surgery. To date, no patient has developed biliary tree stones or liver failure. Choledochal malformation excisional surgery, either open or laparoscopic assisted, can be safely performed in appropriately equipped, pediatric surgical centers in Scotland by experienced pediatric surgeons. Copyright © 2012 by Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  18. A Novel Image Encryption Based on Algebraic S-box and Arnold Transform

    NASA Astrophysics Data System (ADS)

    Farwa, Shabieh; Muhammad, Nazeer; Shah, Tariq; Ahmad, Sohail

    2017-09-01

    Recent study shows that substitution box (S-box) only cannot be reliably used in image encryption techniques. We, in this paper, propose a novel and secure image encryption scheme that utilizes the combined effect of an algebraic substitution box along with the scrambling effect of the Arnold transform. The underlying algorithm involves the application of S-box, which is the most imperative source to create confusion and diffusion in the data. The speciality of the proposed algorithm lies, firstly, in the high sensitivity of our S-box to the choice of the initial conditions which makes this S-box stronger than the chaos-based S-boxes as it saves computational labour by deploying a comparatively simple and direct approach based on the algebraic structure of the multiplicative cyclic group of the Galois field. Secondly the proposed method becomes more secure by considering a combination of S-box with certain number of iterations of the Arnold transform. The strength of the S-box is examined in terms of various performance indices such as nonlinearity, strict avalanche criterion, bit independence criterion, linear and differential approximation probabilities etc. We prove through the most significant techniques used for the statistical analyses of the encrypted image that our image encryption algorithm satisfies all the necessary criteria to be usefully and reliably implemented in image encryption applications.

  19. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    MedlinePlus

    ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of MCAP is ... Brain Malformations Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) Megalencephaly-capillary malformation syndrome ...

  20. Dandy-Walker Malformation Presenting with Affective Symptoms.

    PubMed

    Batmaz, Mert; Balçik, Zeynep Ezgi; Özer, Ürün; Hamurişçi Yalçin, Burcu; Özen, Şakir

    2017-09-01

    Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these

  1. Congenital Vascular Malformation

    MedlinePlus

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

  2. Computed tomography of congenital brain malformations

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Sarwar, M.

    1984-01-01

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

  3. Management of lymphatic malformations in children.

    PubMed

    Bagrodia, Naina; Defnet, Ann M; Kandel, Jessica J

    2015-06-01

    To review the literature on lymphatic malformations and to provide current opinion about the management of these lesions. Current treatment options include nonoperative management, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New therapies are emerging, including sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management centers on the patient's quality of life. Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, in addition to knowledge gained from clinical practice. A patient-centered approach should guide timing and modality of treatment. Continued study of lymphatic malformations will increase and solidify a treatment algorithm for these complicated lesions.

  4. Update on the management of anorectal malformations.

    PubMed

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

    2013-09-01

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

  5. Risk factors for and causes and treatment of recurrence of inferior vena cava type of Budd-Chiari syndrome after stenting in China: A retrospective analysis of a large cohort.

    PubMed

    Li, Wen-Dong; Yu, Hui-Ying; Qian, Ai-Min; Rong, Jian-Jie; Zhang, Ye-Qing; Li, Xiao-Qiang

    2017-03-01

    To explore the risk factors for recurrence of inferior vena cava (IVC)-type Budd-Chiari syndrome (BCS) after stenting and evaluate the feasibility and primary outcomes of endovascular therapies for recurrent BCS. A retrospective analysis of 219 patients was performed to identify risk factors for recurrence. The images of the recurrent patients during follow-up duration and interventional surgery were also reviewed to find the possible reasons of recurrence. The outcome of endovascular therapies for recurrent BCS was evaluated by Kaplan-Meier analysis. Among the 219 patients, 172 patients with primary IVC-type BCS underwent stenting and 28 patients experienced recurrence. Multivariate analysis identified age, Child-Pugh score, MELD and total bilirubin as independent recurrent indicators. Possible causes of recurrence include thrombosis in the stent, re-obstruction in or above the stent, and stent-related hepatic vein obstruction. Twenty-five patients with recurrent BCS underwent endovascular therapies with a few complications and achieved a high level of short- and mid-term patency. Age, total bilirubin and severity of liver function are the main risk factors for BCS recurrence. These risks might contribute to thrombosis or subsequent fibrous obstruction. Endovascular therapies are effective and safe management options that yield positive outcomes for recurrent BCS. • Risk factors for recurrent Budd-Chiari syndrome were identified by multivariate analysis. • Causes of recurrent Budd-Chiari syndrome were investigated by assessing radiological images. • There is a correlation between risk factors and causes of recurrence. • Endovascular therapies for recurrent Budd-Chiari syndrome are effective and safe.

  6. Congenital malformations of human dermatoglyphs

    PubMed Central

    David, T. J.

    1973-01-01

    A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7 PMID:4693462

  7. Quantum color image watermarking based on Arnold transformation and LSB steganography

    NASA Astrophysics Data System (ADS)

    Zhou, Ri-Gui; Hu, Wenwen; Fan, Ping; Luo, Gaofeng

    In this paper, a quantum color image watermarking scheme is proposed through twice-scrambling of Arnold transformations and steganography of least significant bit (LSB). Both carrier image and watermark images are represented by the novel quantum representation of color digital images model (NCQI). The image sizes for carrier and watermark are assumed to be 2n×2n and 2n‑1×2n‑1, respectively. At first, the watermark is scrambled into a disordered form through image preprocessing technique of exchanging the image pixel position and altering the color information based on Arnold transforms, simultaneously. Then, the scrambled watermark with 2n‑1×2n‑1 image size and 24-qubit grayscale is further expanded to an image with size 2n×2n and 6-qubit grayscale using the nearest-neighbor interpolation method. Finally, the scrambled and expanded watermark is embedded into the carrier by steganography of LSB scheme, and a key image with 2n×2n size and 3-qubit information is generated at the meantime, which only can use the key image to retrieve the original watermark. The extraction of watermark is the reverse process of embedding, which is achieved by applying a sequence of operations in the reverse order. Simulation-based experimental results involving different carrier and watermark images (i.e. conventional or non-quantum) are simulated based on the classical computer’s MATLAB 2014b software, which illustrates that the present method has a good performance in terms of three items: visual quality, robustness and steganography capacity.

  8. [Hemangiomas and vascular malformations of the head and neck].

    PubMed

    Hassmann-Poznańska, Elibieta; Kurzyna, Agnieszka

    2006-01-01

    This paper presents the review of current knowledge regarding vascular lesions of the head and neck. For many years the term hemangioma was used to describe all vascular lesions. Mulliken and Glowacki classified congenital vascular lesions and recognized two distinct entities, hemangiomas-vascular tumors and vascular malformations. Hemangiomas are usually not present at birth, proliferate during first year of life and then involute. They are composed of proliferating endothelial cells. Vascular malformations are always present at birth although not always apparent, increase slowly in size throughout whole life and never involute. They enlarge by hypertrophy of malformed vessels. Vascular malformations can be further subdivided according to the type of involved vessels as arterial, arteriovenous, venous, capillary or lymphatic. Accurate diagnosis of hemangiomas and vascular malformations remains a challenge for physicians. Although majority of hemangiomas are self limiting lesions some of them may develop complications such as; ulceration, airway obstruction, ophthalmic complications, psychosocial consequences. Segmental hemangiomas are associated with the risk of structural anomalies such as those that occur in PHACE syndrome. Clinical presentation and forms of treatment of various forms of vascular malformations are presented. Vascular malformations have to be treated according to their histopathology and location, as well as their hemodynamic features shown by radiological examinations.

  9. Dandy-Walker malformation: analysis of 38 cases.

    PubMed

    Pascual-Castroviejo, I; Velez, A; Pascual-Pascual, S I; Roche, M C; Villarejo, F

    1991-04-01

    Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

  10. The presentation and management of complex female genital malformations.

    PubMed

    Acién, Pedro; Acién, Maribel

    2016-01-01

    Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

  11. Slide tracheoplasty outcomes in children with congenital pulmonary malformations.

    PubMed

    DeMarcantonio, Michael A; Hart, Catherine K; Yang, Christina J; Tabangin, Meredith; Rutter, Michael J; Bryant, Roosevelt; Manning, Peter B; de Alarcón, Alessandro

    2017-06-01

    Evaluate and compare surgical outcomes of slide tracheoplasty for the treatment of congenital tracheal stenosis in children with and without pulmonary malformations. Retrospective chart review at a tertiary care pediatric medical center. We identified patients with tracheal stenosis who underwent slide tracheoplasty from 2001 to 2014, and a subset of these patients who were diagnosed with congenital pulmonary malformations. Hospital course and preoperative and postoperative complications were recorded. One hundred thirty patients (18 with pulmonary malformations, 112 with normal pulmonary anatomy) were included. Pulmonary malformations included unilateral pulmonary agenesis (61%) and hypoplasia (39%). Children with pulmonary malformations had a greater median age compared to their normal lung anatomy counterparts. Preoperatively, patients with pulmonary malformations more frequently required preoperative mechanical ventilation (55.6% vs. 21.3%, P = .007), extracorporeal membrane oxygenation (ECMO) (11% vs. 0.9%, P = .05), and tracheostomy (22.2% vs. 3.6%, P = .01). Postoperatively, patients with pulmonary malformations more frequently required mechanical ventilation >48 hours (78% vs. 37%, P =.005) and ECMO use (11% vs. 0.9%, P = .05). Pulmonary malformation patients and children with normal anatomy did not differ in terms of postoperative tracheostomy (16.7% vs. 4.4%, P > .05), dehiscence (6% vs. 0%, P > .05%), restenosis (11% vs. 6%, P > .05) or postoperative figure 8 deformity (6% vs. 3%, P > .05). Mortality, however, was significantly increased (22.2% vs. 3.6%, P = .01) in children with pulmonary malformations. Although slide tracheoplasty can be successfully performed in patients with abnormal pulmonary anatomy, surgeons and families should anticipate a more difficult postoperative course, with possible associated prolonged mechanical ventilation, ECMO use, and higher mortality than in children with tracheal stenosis alone. 4. Laryngoscope, 127:1283-1287, 2017

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Baert, A.L.; Fevery, J.; Marchal, G.

    1983-03-01

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

  13. A Genealogical Analysis of Peter Arnold's Conceptual Account of Meaning in Movement, Sport and Physical Education

    ERIC Educational Resources Information Center

    Stolz, Steven A.; Thorburn, Malcolm

    2017-01-01

    We write as critical theorists who share an interest in how conceptions of physical education are taken forward in policy and practice. In this respect, we are particularly intrigued by Peter Arnold's conceptual account of meaning in movement, sport and physical education, and the subsequent ways in which his ideas have informed national…

  14. Head and neck vascular malformations: time-resolved MR projection angiography.

    PubMed

    Ziyeh, S; Schumacher, M; Strecker, R; Rössler, J; Hochmuth, A; Klisch, J

    2003-10-01

    Extracranial vascular anomalies can be divided into haemangiomas and vascular malformations. The latter can be subdivided on the basis of the predominant type of vascular channels. Separation of high- and low-flow vascular malformations is of clinical importance. We report preliminary observations on time-resolved magnetic resonance projection angiography (MRPA) of vascular malformations of the head and neck. We examined eight patients with vascular anomalies of the head and neck. On MRPA the time between the early arterial phase and enhancement of the malformation could be used to distinguish high- and low-flow lesions. High-flow arteriovenous malformations showed early, intense enhancement. Venous malformations were either not visible on MRPA or showed late enhancement of veins. One patient was examined after embolisation of an arteriovenous fistula of the mandible. Normal MRPA was taken to indicate absence of a residual lesion.

  15. Chronic cerebral herniation in shunted Dandy-Walker malformation.

    PubMed

    Naidich, T P; Radkowski, M A; McLone, D G; Leestma, J

    1986-02-01

    A review of serial computed tomography (CT) scans of 25 patients with the Dandy-Walker malformation revealed six patients with chronic downward transincisural herniation of the cerebrum after shunt decompression of the posterior fossa cyst or malfunction of a lateral ventricular drainage catheter, or both. Chronic cerebral herniation was detected postmortem in a seventh patient with the Dandy-Walker malformation. The CT findings and autopsy appearance of this previously undescribed feature of shunted Dandy-Walker malformation are illustrated.

  16. A case of pancreatic AV malformation in an elderly man.

    PubMed

    Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

    2018-06-01

    A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

  17. Dandy-Walker Malformation Presenting with Affective Symptoms

    PubMed Central

    BATMAZ, Mert; BALÇIK, Zeynep Ezgi; ÖZER, Ürün; HAMURİŞÇİ YALÇIN, Burcu; ÖZEN, Şakir

    2017-01-01

    Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these

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

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

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

  19. Field guide to malformations of frogs and toads: with radiographic interpretations

    USGS Publications Warehouse

    Meteyer, Carol U.

    2000-01-01

    In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

  20. CONGENITAL HEART MALFORMATIONS IN NEWBORN BABIES WITH LOW BIRTH WEIGHT.

    PubMed

    Luca, Alina-Costina; Holoc, Andreea-Simona; Iordache, C

    2015-01-01

    Congenital heart malformations represent a public health problem, holding a significant percentage of the total of heart diseases. Beside the elevated frequency of the malformations, we also notice their occurrence in newborn babies with low birth weight, increasing, thus, the risk of complications and late therapeutic approach. The goal of the study was to highlight the general and particular aspects of cardiovascular malformations epidemiology in newborn babies with low weight at birth, the correlation of the malformations with implied genetic and environmental factors, assessing the complications and their procedures on the therapeutic management. Our study was performed on a group of 271 patients, hospitalized in the Department of Pediatric Cardiology of "Sf. Maria" Emergency Clinical Hospital for Children of Iasi, during January 2011-December 2013. The patients were assessed based on anamnesis, clinical, biological and imagistic exam. The study lot was divided according to the type of the structural defect: 95% of the patients were diagnosed with non-cyanogenic congenital heart malformations and 5% with cyanogenic congenital heart malformations. Regarding the patient's origin background, we notice an elevated frequency of the rural environment (71%). The incidence of the malformations was high in premature low birth weight (48%), followed by premature very low birth weight (22%). In evolution, congenital heart malformations often get more complicated heart failure, arterial hypertension and respiratory infections being most often met. Mortality was maximum in the first year of life, a third of the cases being associated with chromosomal malformations. Congenital heart malformations in newborn patients with low weight at birth represented an elevated percentage of 44.13% of the total of the cases hospitalized for cardiovascular diseases from the Department of Pediatric Cardiology of Iasi. Many cases were associated with other congenital malformations or

  1. Abernethy malformation: a case report

    PubMed Central

    2012-01-01

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

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

    ERIC Educational Resources Information Center

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

    2005-01-01

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

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

    PubMed

    Harris, Ben

    2011-08-01

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

  4. Dandy-Walker malformation: a rare association with hypoparathyroidism.

    PubMed

    Coban, Dilek; Akin, Mustafa Ali; Kurtoglu, Selim; Oktem, Suat; Yikilmaz, Ali

    2010-12-01

    Dandy-Walker malformation is characterized by cystic dilatation of the fourth ventricle and an enlarged posterior cranial fossa with upward displacement of the tentorium, lateral sinuses, and torcular, with agenesis or hypoplasia of the cerebellar vermis. Dandy-Walker malformation occurs in approximately the 4th week of gestation and is associated with various abnormalities involving the cardiac, skeletal, genitourinary, and gastrointestinal systems. The parathyroid gland also forms in the 3rd and 4th gestational weeks. Reported here is the case of a male infant with Dandy-Walker malformation with ventricular and atrial septal defect, unilateral renal agenesis, and hypoparathyroidism. To our knowledge, this rare association with neural crest events during the development of Dandy-Walker malformation has not been reported previously. Crown Copyright © 2010. Published by Elsevier Inc. All rights reserved.

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

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

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

  6. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    PubMed Central

    Shamim, Faisal; Ullah, Hameed; Rehman, Azhar

    2012-01-01

    Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented. PMID:22345959

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

    PubMed Central

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

    2012-01-01

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

  8. Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?

    PubMed

    Mooy, C M; Clark, B J; Lee, W R

    1990-01-01

    This clinicopathological report describes an unusual combination of axial corneal malformation and angiodysgenesis in the uvea, retina and optic nerve in three eyes. In each specimen there was hypocellularity in the posterior axial stroma, with corresponding loss of the corneal endothelium. The vascular malformation consisted of numerous telangiectatic endothelium-lined tubes with inconspicuous or absent media. One globe was obtained from a stillborn fetus (36 weeks) in which renal agenesis and a sireniform malformation (mermaid fetus) occurred in conjunction with a Fallot's tetralogy, pulmonary hypoplasia and atresia of the trachea and duodenum. Eyes with almost identical malformations were obtained from a 39-week female neonate who died after 5 h as a consequence of renal agenesis and pulmonary hypoplasia. This combination of ocular tissue malformations can be explained by embryological studies, which have shown that the corneal stroma and endothelium and the ocular periendothelial vascular tissues are derived from the neural crest.

  9. Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.

    PubMed

    Li, Hui; Ma, Zhi; Xie, Ying; Tian, Feng

    The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established. This is the first reported patient with recurrence of hyperammonemia after interventional treatment; we discuss the therapeutic options for Abernethy malformation.

  10. Congenital extrahepatic portosystemic shunts (Abernethy malformation): a histopathologic evaluation.

    PubMed

    Lisovsky, Mikhail; Konstas, Angelos A; Misdraji, Joseph

    2011-09-01

    Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare malformation in which intestinal and splenic venous blood bypasses the liver and drains into systemic veins. Aside from the complete or near-complete absence of portal veins, other histologic features of Abernethy malformation have not been evaluated in the literature. The goal of this study was to detail the hepatic histopathology in 5 patients with Abernethy malformation diagnosed at our institution. Paraffin-embedded tissue sections from 1 explant, 2 liver tumor resections, and 2 liver biopsies were evaluated using hematoxylin and eosin stains, reticulin, elastic, and trichrome stains, and immunohistochemistry for D2-40. Histologic findings included absence of portal veins in small portal tracts, absent or hypoplastic portal veins in medium-sized and large-sized portal tracts, isolated capillaries and arterioles in the lobules, hypertrophy of hepatic artery branches, remodeling of the liver architecture, and nodular regenerative hyperplasia in 1 case. Two patients had hepatocellular carcinoma without cirrhosis, and 2 had focal nodular hyperplasia. In addition to loss of portal veins, Abernethy malformation is characterized by multiple abnormalities due to remodeling of the hepatic vasculature. Abernethy malformation may also be associated with hepatocellular carcinoma and focal nodular hyperplasia in some patients.

  11. Neuroimaging of Dandy-Walker malformation: new concepts.

    PubMed

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

    2011-12-01

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

  12. [Coexistence of female sexual organ malformation and urinary tract anomalies].

    PubMed

    Rzymski, P; Szpakowska-Rzymska, I; el Yubi, R; Wilczak, M; Sajdak, S; Opala, T

    2001-02-01

    The aim of the study was to estimate the correlation between sexual organs and urinary tract malformation. The retrospective analysis of clinical data obtained from 50 patients with sexual organs anomalies diagnosed in the Academic Gynaecological Centre between 1992-1999 was performed. Material included 24 patients with the Meyer-Rokitansky-Küster-Hauser syndrome and 26 with other sexual organs' malformations. Frequency of urinary tract anomalies was 42%, 11 patients with Meyer-Rokitansky-Küster-Hauser syndrome and 11 with other malformations. The gravity of urinary tract anomalies showed no statistical significant difference dependent on the type and symmetry of genital malformation. Urinary tract anomalies were more frequent in cases of asymmetric genital malformation and the difference was statistically significant. Intravenous urography proofed to be more sensitive than ultrasonography in diagnosing urinary tract anomalies.

  13. Ultrasound-guided high-intensity focused ultrasound ablation for treating uterine arteriovenous malformation.

    PubMed

    Yan, X; Zhao, C; Tian, C; Wen, S; He, X; Zhou, Y

    2017-08-01

    To explore HIFU treatment for uterine arteriovenous malformation. A case report. Gynaecological department in a university teaching hospital of China. A patient with uterine arteriovenous malformation. The diagnosis of uterine arteriovenous malformation was made through MRI. Ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation was performed. HIFU is effective in treating uterine arteriovenous malformation. The patient had reduction of the lesion volume and obvious symptom relief, without significant adverse effects. HIFU can be used as a new treatment option for uterine arteriovenous malformation. Ultrasound-guided high-intensity focused ultrasound ablation is effective in treating uterine arteriovenous malformation. © 2017 Royal College of Obstetricians and Gynaecologists.

  14. Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations

    PubMed Central

    Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

    2016-01-01

    Objective To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk for overall major congenital, cardiac, and central nervous system (CNS) malformations. Methods We used a cohort of completed pregnancies linked to liveborn infants derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. Results The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor–exposed was 5.9% versus 3.3% in the unexposed (unadjusted relative risk (RR), 1.82; 95% confidence interval (CI) 1.61 to 2.06), of cardiac malformations was 3.4% versus 1.2% (RR 2.95; 95% CI 2.50 to 3.47), and of CNS malformations was 0.27% versus 0.18% (RR 1.46; 95% CI 0.81 to 2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk for any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75 to 1.06) for overall malformations, 0.95 (95% CI 0.75 to 1.21) for cardiac malformations, and 0.54 (95% CI 0.26 to 1.11) for CNS malformations. Conclusions After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations. PMID:27926639

  15. Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

    PubMed

    Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

    2017-01-01

    To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

  16. An open-label study to evaluate sildenafil for the treatment of lymphatic malformations.

    PubMed

    Danial, Christina; Tichy, Andrea L; Tariq, Umar; Swetman, Glenda L; Khuu, Phuong; Leung, Thomas H; Benjamin, Latanya; Teng, Joyce; Vasanawala, Shreyas S; Lane, Alfred T

    2014-06-01

    Lymphatic malformations can be challenging to treat. Mainstay interventions including surgery and sclerotherapy are invasive and can result in local recurrence and complications. We sought to assess the effect of 20 weeks of oral sildenafil on reducing lymphatic malformation volume and symptoms in children. Seven children (4 boys, 3 girls; ages 13-85 months) with lymphatic malformations were given oral sildenafil for 20 weeks in this open-label study. The volume of the lymphatic malformation was calculated blindly using magnetic resonance imaging performed before and after 20 weeks of sildenafil. Lymphatic malformations were assessed clinically on weeks 4, 12, 20, and 32. Both the physician and parents evaluated the lymphatic malformation in comparison with baseline. Four subjects had a lymphatic malformation volume decrease (1.0%-31.7%). In 2 subjects, despite a lymphatic malformation volume increase (1.1%-3.7%), clinical improvement was noted while on sildenafil. One subject had a 29.6% increase in lymphatic malformation volume and no therapeutic response. Lymphatic malformations of all 6 subjects who experienced a therapeutic response on sildenafil softened and became easily compressible. Adverse events were minimal. A randomized controlled trial will be necessary to verify the effects of sildenafil on lymphatic malformations. Sildenafil can reduce lymphatic malformation volume and symptoms in some children. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  17. The Hungarian congenital malformation monitoring system.

    PubMed

    Czeizel, A

    1978-01-01

    The Hungarian Congenital Malformation Monitor has been operating since 1973 in order to detect the temporal and regional clusters of 12 indicator congenital malformations as early as possible. This Monitor takes part in the International Clearinghouse for Birth Defects Monitoring System. Three continuously increasing trends were detected in 1973--1976. They may be connected with the more complete notifications, although the increase of limb reduction deformities are only partly explained by this factor. Transitional (quarterly) significant clusters were observed in the case of anencephaly (1974, IV), spina bifida (1974, II; and 1975, III; 1976, III), cleft lip +/- cleft palate (1974, III). The possibility of three technical biases (changes in diagnosis, notification and evaluation of the given congenital malformation) has to be excluded before accepting the fact of a real epidemic. Subsequently, a case-control epidemiological study by personal interviews and with matched controls has to be performed.

  18. Progesterone receptors identified in vascular malformations of the head and neck.

    PubMed

    Duyka, Landon J; Fan, Chun Y; Coviello-Malle, Jean M; Buckmiller, Lisa; Suen, James Y

    2009-10-01

    To identify hormone receptors within vascular malformations (arteriovenous malformations [AVMs], venous malformations [VMs], and lymphatic malformations [LMs]) of the head and neck. Immunohistochemical staining for estrogen receptor (ER) and progesterone receptor (PR) was performed on archival vascular malformation tissue collected from both pediatric and adult patients. Tertiary referral center from 2006 to 2008. Twelve AVM, 10 VM, and eight LM specimens were stained for both ER and PR. Ten breast carcinoma specimens were used as controls, with the carcinoma cells serving as positive controls, and the endothelium and smooth muscle cells of the blood vessels serving as negative controls. Five normal supraglottic mucosal samples served as head and neck controls. The Fisher exact test was used for statistical analysis. Ten of the 12 (83%) AVM specimens stained diffusely positive for PR within the nuclei of the endothelium and smooth muscle of the malformed vessels (P < 0.0001). Five of the 10 (50%) VM specimens stained positive for PR (2 [20%] focal, 3 [30%] diffuse) within the nuclei of the endothelium and smooth muscle of the malformed vessels (P = 0.0325). Four of the eight (50%) LM specimens stained focally positive for PR within the nuclei of the endothelium of the malformed vessels (P = 0.0229). None of the vascular malformation specimens stained positive for ER. Our data suggest that PR, but not ER, is expressed in AVMs, VMs, and LMs of the head and neck.

  19. Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations

    PubMed Central

    Huybrechts, Krista F.; Hernández-Díaz, Sonia; Patorno, Elisabetta; Desai, Rishi J.; Mogun, Helen; Dejene, Sara Z.; Cohen, Jacqueline M.; Panchaud, Alice; Cohen, Lee; Bateman, Brian T.

    2017-01-01

    IMPORTANCE The frequency of antipsychotic (AP) use during pregnancy has approximately doubled during the last decade. However, little is known about their safety for the developing fetus, and concerns have been raised about a potential association with congenital malformations. OBJECTIVE To examine the risk for congenital malformations overall and cardiac malformations associated with first-trimester exposure to APs. DESIGN, SETTING, AND PARTICIPANTS This nationwide sample of 1 360 101 pregnant women enrolled in Medicaid with a live-born infant constituted the pregnancy cohort nested in the Medicaid Analytic Extract database, which included data from January 1, 2000, to December 31, 2010. Participants were enrolled in Medicaid from 3 months before their last menstrual period through at least 1 month after delivery. Relative risks (RRs) were estimated using generalized linear models with fine stratification on the propensity score to control for the underlying psychiatric disorders and other potential confounders. Data were analyzed during 2015. EXPOSURES Use of APs during the first trimester, the etiologically relevant period for organogenesis. MAIN OUTCOMES AND MEASURES Major congenital malformations overall and cardiac malformations identified during the first 90 days after delivery. RESULTS Of the 1 341 715 pregnancies that met inclusion criteria (mean [SD] age of women, 24.02 [5.77] years), 9258 (0.69%) filled at least 1 prescription for an atypical AP and 733 (0.05%) filled at least 1 prescription for a typical AP during the first trimester. Overall, 32.7 (95% CI, 32.4–33.0) per 1000 births not exposed to APs were diagnosed with congenital malformations compared with 44.5 (95% CI, 40.5–48.9) per 1000 births exposed to atypical and 38.2 (95% CI, 26.6–54.7) per 1000 births exposed to typical APs. Unadjusted analyses suggested an increased risk for malformations overall for atypical APs (RR, 1.36; 95% CI, 1.24–1.50) but not for typical APs (RR, 1.17; 95

  20. Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations.

    PubMed

    Huybrechts, Krista F; Hernández-Díaz, Sonia; Patorno, Elisabetta; Desai, Rishi J; Mogun, Helen; Dejene, Sara Z; Cohen, Jacqueline M; Panchaud, Alice; Cohen, Lee; Bateman, Brian T

    2016-09-01

    The frequency of antipsychotic (AP) use during pregnancy has approximately doubled during the last decade. However, little is known about their safety for the developing fetus, and concerns have been raised about a potential association with congenital malformations. To examine the risk for congenital malformations overall and cardiac malformations associated with first-trimester exposure to APs. This nationwide sample of 1 360 101 pregnant women enrolled in Medicaid with a live-born infant constituted the pregnancy cohort nested in the Medicaid Analytic Extract database, which included data from January 1, 2000, to December 31, 2010. Participants were enrolled in Medicaid from 3 months before their last menstrual period through at least 1 month after delivery. Relative risks (RRs) were estimated using generalized linear models with fine stratification on the propensity score to control for the underlying psychiatric disorders and other potential confounders. Data were analyzed during 2015. Use of APs during the first trimester, the etiologically relevant period for organogenesis. Major congenital malformations overall and cardiac malformations identified during the first 90 days after delivery. Of the 1 341 715 pregnancies that met inclusion criteria (mean [SD] age of women, 24.02 [5.77] years), 9258 (0.69%) filled at least 1 prescription for an atypical AP and 733 (0.05%) filled at least 1 prescription for a typical AP during the first trimester. Overall, 32.7 (95% CI, 32.4-33.0) per 1000 births not exposed to APs were diagnosed with congenital malformations compared with 44.5 (95% CI, 40.5-48.9) per 1000 births exposed to atypical and 38.2 (95% CI, 26.6-54.7) per 1000 births exposed to typical APs. Unadjusted analyses suggested an increased risk for malformations overall for atypical APs (RR, 1.36; 95% CI, 1.24-1.50) but not for typical APs (RR, 1.17; 95% CI, 0.81-1.68). After confounding adjustment, the RR was reduced to 1.05 (95% CI, 0.96-1.16) for

  1. Wound management with compression therapy and topical hemoglobin solution in a patient with Budd-Chiari Syndrome.

    PubMed

    Babadagi-Hardt, Zeynep; Engels, Peter; Kanya, Susanne

    2014-03-31

    Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases associated with disturbed blood flow a correlation between cause and effect is often diagnosed inappropriately. As a consequence, chronic wounds may develop and persist for years. We present a case of a patient with chronic venous insufficiency due to an occlusion of the inferior caval vein. Initially, a Budd-Chiari syndrome was diagnosed which is a thrombotic obstruction of the hepatic venous outflow. In addition, the patient developed an obstruction of the inferior caval vein and subsequently a chronic venous insufficiency. As a consequence, chronic leg ulcers developed with a history of more than 7 years. Various wound care approaches were performed without success in wound closure. Finally, a combination of compression therapy and topical application of a hemoglobin solution successfully led to fast and persistent wound closure. Chronic ulcers of the lower limb such as venous leg ulcers, even for patients with rare disorders like Budd-Chiari syndrome, are associated with oxygen supply disturbances resulting in a hypoxic status of the affected tissue. Therefore, an adequate oxygen supply to chronic wounds plays a pivotal role in successful wound healing. Compression therapy in combination with enhancement of the local oxygen supply by topically applied hemoglobin showed marked improvement of wound healing in the presented patient.

  2. Congenital malformations in offspring of women with a history of malignancy.

    PubMed

    Sabeti Rad, Zahra; Friberg, Britt; Henic, Emir; Rylander, Lars; Ståhl, Olof; Källén, Bengt; Lingman, Göran

    2017-02-15

    Survival after malignancy has increased and the question of risks, including risk for congenital malformations for the offspring of these women has become important. Data on congenital malformations in such offspring are limited. We compared congenital malformation in offspring, born 1994 to 2011 of women with a history of malignancy (at least 1 year before delivery) with all other offspring. Adjustment for confounders was mainly made by Mantel-Haenszel methodology. Data were obtained by linkage between Swedish national health registers. We identified 71,954 (4.1%) infants with congenital malformation, of which 47,081 (2.7%) were relatively severe (roughly corresponding to major malformation). Among 7284 infants to women with a history of malignancy 204 relatively severe malformations were found (2.8%; odds ratio [OR] = 1.04; 95% confidence interval [CI], 0.91-1.20). After in vitro fertilization, the risk of a relatively severe malformation was significantly increased in women without a history of malignancy (OR = 1.31; 95% CI, 1.24-1.38) and still more in women with such a history (risk ratio = 1.85; 95% CI, 1.08-2.97). However, there were no significant differences neither, for any malformations (OR = 1.04; 95% CI, 0.92-1.16) nor for relatively severe malformations (OR = 1.04; 95% CI, 0.91-1.20), when comparing offspring only after maternal history of malignancy. No general increase in malformation rate was found in infants born to women with a history of malignancy. A previously known increased risk after in vitro fertilization was verified and it is possible that this risk is further augmented among infants born of women with a history of malignancy. Birth Defects Research 109:224-233, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Carnevale, Francisco Cesar, E-mail: fcarnevale@uol.com.br; Szejnfeld, Denis, E-mail: denis@cura.com.br; Moreira, Airton Mota

    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.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Quateen, A.; Pech, M.; Berg, T.

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  6. Congenital Malformations in River Buffalo (Bubalus bubalis)

    PubMed Central

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  7. Inter-operator Reliability of Magnetic Resonance Image-Based Computational Fluid Dynamics Prediction of Cerebrospinal Fluid Motion in the Cervical Spine.

    PubMed

    Martin, Bryn A; Yiallourou, Theresia I; Pahlavian, Soroush Heidari; Thyagaraj, Suraj; Bunck, Alexander C; Loth, Francis; Sheffer, Daniel B; Kröger, Jan Robert; Stergiopulos, Nikolaos

    2016-05-01

    For the first time, inter-operator dependence of MRI based computational fluid dynamics (CFD) modeling of cerebrospinal fluid (CSF) in the cervical spinal subarachnoid space (SSS) is evaluated. In vivo MRI flow measurements and anatomy MRI images were obtained at the cervico-medullary junction of a healthy subject and a Chiari I malformation patient. 3D anatomies of the SSS were reconstructed by manual segmentation by four independent operators for both cases. CFD results were compared at nine axial locations along the SSS in terms of hydrodynamic and geometric parameters. Intraclass correlation (ICC) assessed the inter-operator agreement for each parameter over the axial locations and coefficient of variance (CV) compared the percentage of variance for each parameter between the operators. Greater operator dependence was found for the patient (0.19 < ICC < 0.99) near the craniovertebral junction compared to the healthy subject (ICC > 0.78). For the healthy subject, hydraulic diameter and Womersley number had the least variance (CV = ~2%). For the patient, peak diastolic velocity and Reynolds number had the smallest variance (CV = ~3%). These results show a high degree of inter-operator reliability for MRI-based CFD simulations of CSF flow in the cervical spine for healthy subjects and a lower degree of reliability for patients with Type I Chiari malformation.

  8. Tennessee Army National Guard (TNARNG) Range Expansion at Arnold Air Force Base, Tennessee. Environmental Assessment

    DTIC Science & Technology

    2012-11-01

    habitats and establish a permitting process for legal taking. A migratory bird is defined by the USFWS as any species or family of birds that lives...TNARNG leased area at Arnold AFB. No significant impacts have been identified for sensitive habitat or plant and animal species . (EA Section 4.3...potential significant adverse impacts to flora, fauna, and sensitive habitats and species . (See Chapter 5.0.) Cultural resources All areas have been

  9. Arnold Diffusion of Charged Particles in ABC Magnetic Fields

    NASA Astrophysics Data System (ADS)

    Luque, Alejandro; Peralta-Salas, Daniel

    2017-06-01

    We prove the existence of diffusing solutions in the motion of a charged particle in the presence of ABC magnetic fields. The equations of motion are modeled by a 3DOF Hamiltonian system depending on two parameters. For small values of these parameters, we obtain a normally hyperbolic invariant manifold and we apply the so-called geometric methods for a priori unstable systems developed by A. Delshams, R. de la Llave and T.M. Seara. We characterize explicitly sufficient conditions for the existence of a transition chain of invariant tori having heteroclinic connections, thus obtaining global instability (Arnold diffusion). We also check the obtained conditions in a computer-assisted proof. ABC magnetic fields are the simplest force-free-type solutions of the magnetohydrodynamics equations with periodic boundary conditions, and can be considered as an elementary model for the motion of plasma-charged particles in a tokamak.

  10. Optical image encryption using multilevel Arnold transform and noninterferometric imaging

    NASA Astrophysics Data System (ADS)

    Chen, Wen; Chen, Xudong

    2011-11-01

    Information security has attracted much current attention due to the rapid development of modern technologies, such as computer and internet. We propose a novel method for optical image encryption using multilevel Arnold transform and rotatable-phase-mask noninterferometric imaging. An optical image encryption scheme is developed in the gyrator transform domain, and one phase-only mask (i.e., phase grating) is rotated and updated during image encryption. For the decryption, an iterative retrieval algorithm is proposed to extract high-quality plaintexts. Conventional encoding methods (such as digital holography) have been proven vulnerably to the attacks, and the proposed optical encoding scheme can effectively eliminate security deficiency and significantly enhance cryptosystem security. The proposed strategy based on the rotatable phase-only mask can provide a new alternative for data/image encryption in the noninterferometric imaging.

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

    PubMed

    Curtis, Scott

    2011-09-01

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

  12. Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.

    PubMed

    Teusch, Veronika I; Wohlgemuth, Walter A; Hammer, Simone; Piehler, Armin P; Müller-Wille, René; Goessmann, Holger; Uller, Wibke

    2017-12-01

    In the treatment of venous malformations, ethanol may be administered in a gelified form to increase local effects and reduce systemic ones. The purpose of this prospective study was to evaluate the efficacy and safety of a commercially available viscous ethanol gel in the treatment of venous malformations. Thirty-one patients (mean age, 23.4 years; age range, 6.6-46.5 years) with venous malformations were prospectively scheduled for two ethanol-gel sclerotherapy sessions. Venous malformations were located at the lower extremity (n = 18), the upper extremity (n = 9), and the face (n = 4). Questionnaires to assess pain, clinical examinations, professional photographs, and contrast-enhanced MRI of the venous malformations were performed before and after therapy to measure therapy-induced changes. Two experienced radiologists blinded to the examination date and clinical status compared photographs and MR images before and after treatment. A mean of 4.2 mL of ethanol gel were administered per session. The technical success rate was 100%. Clinical success, defined as improvement or resolution of symptoms, was noted in 81% of patients. Mean pain score decreased, and the difference was statistically significant (3.9 vs 3.1, p = 0.005). In 54 treatment sessions where follow-up was available, four minor complications occurred. Comparison of photographs and MR images before and after treatment showed improvement in 35% and 93% of patients, respectively. Ethanol gel is an effective and safe sclerosing agent in the treatment of venous malformations.

  13. Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

    PubMed

    Raghunath, Azhwar; Perumal, Ekambaram

    2018-01-01

    The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

  14. Neurodevelopmental Malformations of the Cerebellar Vermis in Genetically Engineered Rats.

    PubMed

    Ramos, Raddy L; Van Dine, Sarah E; Gilbert, Mary E; Leheste, Joerg R; Torres, German

    2015-12-01

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformations are almost exclusively found along the primary fissure and are indicative of deficits of neuronal migration during cerebellar development. In the present report, we test the prediction that genetically engineered rats on Sprague-Dawley or Long-Evans backgrounds will also exhibit the same cerebellar malformations. Consistent with our hypothesis, we found that three different transgenic lines on two different backgrounds had cerebellar malformations. Heterotopia in transgenic rats had identical cytoarchitecture as that observed in wild-type rats including altered morphology of Bergmann glia. In light of the possibility that heterotopia could affect results from behavioral studies, these data suggest that histological analyses be performed in studies of cerebellar function or development when using genetically engineered rats on these backgrounds in order to have more careful interpretation of experimental findings.

  15. Imaging of head and neck venous malformations.

    PubMed

    Flis, Christine M; Connor, Stephen E

    2005-10-01

    Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team.

  16. Amphibian malformations and body condition across an agricultural landscape of northwest Argentina.

    PubMed

    Guerra, Cecilia; Aráoz, Ezequiel

    2016-09-26

    Agricultural landscapes support large amphibian populations because they provide habitat for many species, although agriculture affects amphibians through various mechanisms. Pollution with agrochemicals is the major threat to amphibian populations after habitat loss, as chemicals alter the ecophysiology of amphibians, putting their health and survival at risk. We aimed to assess the effect of different environments, sites, width of forest buffers and sampling years on the health of amphibians, which was estimated through the prevalence of malformations and body condition. During 3 yr of pitfall trapping, we captured 4491 amphibians. The prevalence of malformations was higher in the croplands than in the forests, while the body condition was better within forests. The prevalence of malformations was higher in the narrower forest site than in the wider forest site. The prevalence of malformations and the body condition were higher in the third year. The prevalence of malformations differed by species. We found 11 types of malformation, which mainly affected limbs and were unilateral or bilaterally asymmetrical. Our results showed that the prevalence of malformations and body condition reflect different aspects of the health of amphibians and that forest individuals are healthier than those from croplands. The results also highlight the importance of spatial configuration besides the conservation of natural habitats to preserve healthy amphibians in agricultural landscapes. The types of malformation that we found suggest that agrochemicals could be an important cause of malformations.

  17. Emergence of oropharyngeal, laryngeal and swallowing activity in the developing fetal upper aerodigestive tract: an ultrasound evaluation.

    PubMed

    Miller, Jeri L; Sonies, Barbara C; Macedonia, Christian

    2003-02-01

    The developing fetal upper aerodigestive system provides the structural support for respiratory and ingestive functions necessary to sustain life at birth. This study investigated prenatal development of upper aerodigestive anatomy and the association of emerging functions as predictors of postnatal feeding skills. Biometric measures of oral, lingual, pharyngeal and laryngeal structures were obtained in fetuses 15-38 weeks gestational age using a four-plane sonographic technique. Accompanying ingestive behaviors were tallied across development. The data from 62 healthy controls were compared to seven cases at risk for postnatal feeding and swallowing dysfunction (Type II Arnold Chiari Malformation, trisomy 18, polyhydramnios, intrauterine growth restriction, Brachmann-de Lange Syndrome). Significant (p<0.001) linear regressions occurred in pharyngeal and lingual growth across gestation while ingestive behavior such as suckling emerged in a sequence of basic to complex movement patterns. Jaw and lip movements progressed from simple mouth opening to repetitive open-close movements important for postnatal suckling. Lingual movements increased in complexity from simple forward thrusting and cupping to anterior-posterior motions necessary for successful suckling at term. Laryngeal movements varied from shallow flutter-like movements along the lumen to more complex and complete adduction-abduction patterns. Fetal swallowing primarily occurred in the presence of concomitant oral-facial stimulatory activity. Significant variations (p<0.01) in the form and function of the ingestive system occurred in comparisons of gestational age-matched controls to at-risk cases. We postulate that prenatal developmental indices of emerging aerodigestive skills may guide postnatal decisions for feeding readiness and, ultimately, advance the care of the premature, medically fragile neonate.

  18. Bronchoscopy findings in children with recurrent and chronic stridor.

    PubMed

    Najada, Abdelhamid S; Dahabreh, Muna M

    2011-01-01

    To describe the bronchoscopic findings and treatment decision of children with chronic or recurrent stridor referred to the pediatric respiratory clinic at Queen Rania Hospital for Children. All children who underwent flexible bronchoscopy at the pediatric bronchoscopy unit for chronic stridor from January 2009 to January 2010 were included. Stridor was divided into 3 groups: inspiratory, expiratory, or biphasic. All patients from 2 weeks of age till 14 years were included. Files of these patients were retrospectively reviewed. A specially formulated data sheet including clinical history and physical findings, type of stridor, bronchoscopic findings, and management decision was used. Radiologic investigation results were included when relevant. Flexible bronchoscopy was performed under sedation and topical anesthesia. A total of 64 children [35 (54.7%) male and 29 (45.3%) female] were included. Twenty-four patients had inspiratory stridor. There were 33 patients with biphasic stridor (subglottic stenosis in 9, paradoxical vocal cord movement in 6, vascular ring in 5, subglottic hemangioma in 3, vocal cord paralyses in 4, foreign body in 2, laryngeal web in 2, and absent vocal cord and tracheal bronchus in 1 each). Seven children had expiratory stridor. Of patients with laryngomalacia, 50% had associated tracheomalacia and 70% of those with laryngomalacia and all patients with tracheomalacia had associated gastroesophageal reflux. Two patients with paradoxical vocal cord movement were found to have Arnold-Chiari malformation. All patients with vascular rings underwent surgery. Flexible bronchoscopy should be performed in all patients with chronic or recurrent stridor to assess the airway and guide further investigations and management.

  19. Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

    PubMed

    Hart, Joseph; Miriyala, Kalpana

    2017-09-01

    Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

  20. Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation.

    PubMed

    Kundu, Somenath; Mitra, Subhra; Mukherjee, Shubhasis; Chakravorty, Anushree

    2010-11-01

    Arteriovenous malformations of the lung are rare pulmonary vascular disorders which can suddenly lead to life threatening complications. Haemothorax due to rupture of a pulmonary arteriovenous malformation (PAVM) is very rare. We report here a case of a 39 year-old lady who presented with an acute onset of shortness of breath due to right-sided massive haemothorax and was subsequently detected to have pulmonary as well as cerebral arteriovenous malformation (CAVM).

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

    PubMed

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

    2015-07-01

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

  2. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered.

  3. [Advances in genetics of congenital malformation of external and middle ear].

    PubMed

    Wang, Dayong; Wang, Qiuju

    2013-05-01

    Congenital malformation of external and middle ear is a common disease in ENT department, and the incidence of this disease is second only to cleft lip and palate in the whole congenital malformations of the head and face. The external and middle ear malformations may occur separately, or as an important ear symptom of the systemic syndrome. We systematically review and analysis the genetic research progress of congenital malformation of external and middle ear, which would be helpful to understand the mechanism of external and middle ear development, and to provide clues for the further discovery of new virulence genes.

  4. Epilepsy surgery in patients with malformations of cortical development.

    PubMed

    Lüders, Hans; Schuele, Stephan U

    2006-04-01

    Patients with malformations of cortical development often suffer from intractable focal epilepsy. This review considers recent progress in the selection and seizure outcome of patients undergoing resective epilepsy surgery for this condition. Patients with malformations of cortical development restricted to part or even a whole hemisphere may be candidates for epilepsy surgery even when, due to microscopic malformations, magnetic resonance imaging shows no detectable lesion. Despite recent advances in structural and functional imaging, the majority of patients with this condition undergo invasive evaluation. Patients with focal cortical dysplasia, with and without a detectable lesion on magnetic resonance imaging, often have a favorable outcome with epilepsy surgery. The underlying pathological substrate seems to be a better predictor for surgical outcome in patients with focal cortical dysplasia than the presence of a lesion on magnetic resonance imaging. Epilepsy surgery can be offered in a highly selected subgroup of patients with unilateral nodular heterotopia. Seizures in hemimegalencephaly may respond favorably to hemispherectomy, although most children will continue to have seizures and significant functional impairments. Patients with focal epilepsy due to malformations of cortical development are often intractable to medical management. Resective epilepsy surgery can be beneficial, particularly for patients with focal cortical dysplasia and unilateral hemispheric malformations.

  5. Dandy-Walker malformation: analysis of 19 cases.

    PubMed

    Alexiou, George A; Sfakianos, George; Prodromou, Neofytos

    2010-02-01

    Dandy-Walker malformation is a congenital disorder that involves the cerebellum and fourth ventricle. Regarding treatment, there is still controversy over the optimum surgical management. In the current study, we present 19 consecutive cases of Dandy-Walker malformation diagnosed between January 1992 and January 2008 that were treated in our institute. All patients presented with hydrocephalus at the time of diagnosis and were treated surgically. Combined drainage of the ventricular system and posterior fossa cyst, using a 3-way connector was performed in 5 patients. Posterior fossa cyst drainage alone was performed in 10 patients and the remaining 4 patients were treated by ventricular drainage alone. All patients improved after treatment. Dandy-Walker malformation is a developmental abnormality of the central nervous system associated with various brain and extracranial abnormalities. Surgical treatment remains controversial, whereas prognosis varies greatly according to the severity of syndrome and associated comorbidities.

  6. Numerical modeling process of embolization arteriovenous malformation

    NASA Astrophysics Data System (ADS)

    Cherevko, A. A.; Gologush, T. S.; Petrenko, I. A.; Ostapenko, V. V.

    2017-10-01

    Cerebral arteriovenous malformation is a difficult, dangerous, and most frequently encountered vascular failure of development. It consists of vessels of very small diameter, which perform a discharge of blood from the artery to the vein. In this regard it can be adequately modeled using porous medium. Endovascular embolization of arteriovenous malformation is effective treatment of such pathologies. However, the danger of intraoperative rupture during embolization still exists. The purpose is to model this process and build an optimization algorithm for arteriovenous malformation embolization. To study the different embolization variants, the initial-boundary value problems, describing the process of embolization, were solved numerically by using a new modification of CABARET scheme. The essential moments of embolization process were modeled in our numerical experiments. This approach well reproduces the essential features of discontinuous two-phase flows, arising in the embolization problems. It can be used for further study on the process of embolization.

  7. [Poland'syndrome and hand's malformations: about a clinic series of 37 patients].

    PubMed

    Foucras, L; Grolleau, J L; Chavoin, J P

    2005-04-01

    Poland's syndrome is a rare malformation which associates thoracic anomalies and anomalies of homolateral upper end. We wish to know the frequency of hand's malformations in this syndrome in our clinical experience. We have revised 37 patients who were seen initially for a thoracomammary anomaly. This clinical series from plastic surgery service of Toulouse has been revised to know the importance of hand's malformations. Hand's malformations in Poland's syndrome are rare in your study, they touch only 12% patients. We find only 4 malformations in 33 patients, four were lost. They were only females, we find three brachymesophalangies and a major form. Hand's malformations in Poland's syndrome are less frequent than classically. There is no parallelism between gravity of thoracic malformation and that one of upper end. In this series, we find only one case with syndactyly; originally, Poland's syndrome was named < Poland's syndactyly >. Finally, we think that we can talk about Poland's syndrome without anomaly of homolateral upper end, the major element is musculary agenesia of sternocostal pectoralis major. The search of homolateral upper end has to be systematic in front of suspicious of Poland's syndrome.

  8. Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in

    PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. Onmore » follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.« less

  9. Comparative transcriptomic analyses of normal and malformed flowers in sugar apple (Annona squamosa L.) to identify the differential expressed genes between normal and malformed flowers.

    PubMed

    Liu, Kaidong; Li, Haili; Li, Weijin; Zhong, Jundi; Chen, Yan; Shen, Chenjia; Yuan, Changchun

    2017-10-23

    Sugar apple (Annona squamosa L.), a popular fruit with high medicinal and nutritional properties, is widely cultivated in tropical South Asia and America. The malformed flower is a major cause for a reduction in production of sugar apple. However, little information is available on the differences between normal and malformed flowers of sugar apple. To gain a comprehensive perspective on the differences between normal and malformed flowers of sugar apple, cDNA libraries from normal and malformation flowers were prepared independently for Illumina sequencing. The data generated a total of 70,189,896 reads that were integrated and assembled into 55,097 unigenes with a mean length of 783 bp. A large number of differentially expressed genes (DEGs) were identified. Among these DEGs, 701 flower development-associated transcript factor encoding genes were included. Furthermore, a large number of flowering- and hormone-related DEGs were also identified, and most of these genes were down-regulated expressed in the malformation flowers. The expression levels of 15 selected genes were validated using quantitative-PCR. The contents of several endogenous hormones were measured. The malformed flowers displayed lower endogenous hormone levels compared to the normal flowers. The expression data as well as hormone levels in our study will serve as a comprehensive resource for investigating the regulation mechanism involved in floral organ development in sugar apple.

  10. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com; Neuville, A.; Labreze, C.

    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.

  11. Dynamic MRI for distinguishing high-flow from low-flow peripheral vascular malformations.

    PubMed

    Ohgiya, Yoshimitsu; Hashimoto, Toshi; Gokan, Takehiko; Watanabe, Shouji; Kuroda, Masayoshi; Hirose, Masanori; Matsui, Seishi; Nobusawa, Hiroshi; Kitanosono, Takashi; Munechika, Hirotsugu

    2005-11-01

    The purpose of our study was to assess the usefulness of dynamic MRI in distinguishing high-flow vascular malformations from low-flow vascular malformations, which do not need angiography for treatment. Between September 2001 and January 2003, 16 patients who underwent conventional and dynamic MRI had peripheral vascular malformations (six high- and 10 low-flow). The temporal resolution of dynamic MRI was 5 sec. Time intervals between beginning of enhancement of an arterial branch in the vicinity of a lesion in the same slice and the onset of enhancement in the lesion were calculated. We defined these time intervals as "artery-lesion enhancement time." Time intervals between the onset of enhancement in the lesion and the time of the maximal percentage of enhancement above baseline of the lesion within 120 sec were measured. We defined these time intervals as "contrast rise time" of the lesion. Diagnosis of the peripheral vascular malformations was based on angiographic or venographic findings. The mean artery-lesion enhancement time of the high-flow vascular malformations (3.3 sec [range, 0-5 sec]) was significantly shorter than that of the low-flow vascular malformations (8.8 sec [range, 0-20 sec]) (Mann-Whitney test, p < 0.05). The mean maximal lesion enhancement time of the high-flow vascular malformations (5.8 sec [range, 5-10 sec]) was significantly shorter than that of the low-flow vascular malformations (88.4 sec [range, 50-100 sec]) (Mann-Whitney test, p < 0.01). Dynamic MRI is useful for distinguishing high-flow from low-flow vascular malformations, especially when the contrast rise time of the lesion is measured.

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

    EPA Science Inventory

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

  13. Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

    PubMed

    Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

    2011-11-01

    One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, P<0.0001; hypospadias, P=0.0021; OFC, P=0.005; polydactyly, P=0.0867; syndactyly, P=0.1941; and accessory auricle anomaly, P=0.0011. The upward trend was as follows: CHD (P=0.0026), intestinal atresia/stenosis (P=0.0103), kidney malformations (P<0.0001), hypospadias (P=0.0021), OFC (P=0.005), and accessory auricle anomaly (P=0.0011). The incidence of hydrocephalus (P=0.0042) showed a downward trend. No statistical significant trend was found in anorectal malformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations

  14. Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

    PubMed

    Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

    2017-11-01

    The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p < 0.001), longer intubation times (p = 0.002), and higher perioperative death (p = 0.015) than controls. There was a tendency for worse overall survival than controls, mainly explained by the higher risk of early death (p = 0.06). No difference was found in outcomes between patients with abdominal GI malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  15. Recurrent High-Flow Arterio-Venous Malformation of the Thyroid Gland.

    PubMed

    Borchert, D H; Massmann, A; Kim, Y J; Bader, C A; Wolf, G; Eisele, R; Minko, P; Bücker, A; Glanemann, M

    2015-09-01

    Vascular malformations and hemangiomas of the thyroid gland are rare disorders. The first case of a patient with recurrent high-flow arterio-venous malformation of the right thyroid gland involving the right endolarynx is presented. In June 2013, a 42-year-old female patient presented to the surgical department with recurrent hoarseness and a soft, vibrating mass on the right side of her neck. In 1993, she underwent right subtotal hemithyroidectomy with embolization on the day before surgery for a high-flow arterio-venous malformation of the thyroid gland. Diagnostic work-up in 2013 demonstrated a complex recurrent high-flow arterio-venous malformation on the right side of her neck involving the endolarynx. Full function of the right vocal fold could not be ascertained. The lesion was embolized again and excised the following day. Intraoperative gross bleeding and scar tissue prevented visualization and monitoring of the recurrent laryngeal nerve. Gross bleeding was also noted on hemithyroidectomy after embolization in 1993. No therapy was needed for the endolaryngeal part of the lesion. Histology showed large arterio-venous malformations with thyroid tissue. She remains well without signs of recurrence 18 month later but with a definitive voice handicap. This is the first report of a recurrent high-flow arterio-venous malformation originally developing from the right thyroid gland involving the right endolarynx. Counseling, diagnostic, and therapeutic work-up of the patient was possible only with an interdisciplinary team. The endolaryngeal part of the hemangioma dried out after embolization and completion hemithyroidectomy. Her hoarseness has greatly improved but a definitive voice handicap remains. High-flow arterio-venous malformations of the thyroid gland are a rare disease, and recurrent lesions have not been reported. Interdisciplinary management of these patients is mandatory due to the complex nature of the underlying pathology. Recurrence might develop

  16. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

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

    2000-01-01

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

  17. Behcet's disease in Budd-Chiari syndrome.

    PubMed

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

    2014-01-01

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

  18. A proposal for classification of entities combining vascular malformations and deregulated growth.

    PubMed

    Oduber, Charlène E U; van der Horst, Chantal M A M; Sillevis Smitt, J Henk; Smeulders, Mark J C; Mendiratta, Vibhu; Harper, John I; van Steensel, Maurice A M; Hennekam, Raoul C M

    2011-01-01

    Agreement on terminology and nomenclature is fundamental and essential for effective exchange of information between clinicians and researchers. An adequate terminology to describe all patients showing vascular malformations combined with deregulated growth is at present not available. To propose a classification of patients with vascular malformations, not restricted to the face, and growth disturbances based on simple, clinically visible characteristics, on which clinicians and researchers can comment and which should eventually lead to an internationally accepted classification. Rooted in our joint experience we established a classification of vascular malformation not limited to the face, with growth disturbances. It is based on the nature and localization of the vascular malformations; the nature, localization and timing of growth disturbances; the nature of co-localization of the vascular malformations and growth disturbances; the presence or absence of other features. Subsequently a mixed (experienced and non-experienced) group of observers evaluated 146 patients (106 from the Netherlands; 40 from the UK) with vascular malformations and disturbed growth, using the classification. Inter-observer variability was assessed by estimating the Intra-Class Correlation (ICC) coefficient and its 95% confidence interval. We defined 6 subgroups within the group of entities with vascular malformation-deregulated growth. Scoring the patients using the proposed classification yielded a high inter-observer reproducibility (ICC varying between 0.747 and 0.895 for all levels of flow). The presently proposed classification was found to be reliable and easy to use for patients with vascular malformations with growth disturbances. We invite both clinicians and researchers to comment on the classification, in order to improve it further. This way we may obtain our final aim of an internationally accepted classification of patients, which should facilitate both clinical treatment

  19. Aeromagnetic map of the Arnold Mesa Roadless Area, Yavapai County, Arizona

    USGS Publications Warehouse

    Davis, Willard E.; Wolfe, Edward W.

    1983-01-01

    The Arnold Mesa Roadless Area is within the transition zone between the Colorado Plateaus to the northeast and the Basin and Range province to the southwest. The transition zone is a belt about 701 miles (120 km) wide that extends diagonally from northwest to south east across central Arizona and parallels the topographic margin of the plateaus. The study area is underlain by Precambrian rocks and gently dipping Paleozoic strata that are largely covered by basaltic lavas and pyroclastic deposits of Miocene age ( McKee and Anderson, 1971). Dacite breccia and tuff are locally interbedded with the basaltic rocks. Sedimentary deposits of late Cenozoic age are dominant in the Verde Valley from about Chasm Creek north; they accumulated in a depositional basin bounded on the west by the Verde fault.

  20. Evolution of congenital malformations of the umbilical-portal-hepatic venous system.

    PubMed

    Scalabre, Aurelien; Gorincour, Guillaume; Hery, Geraldine; Gamerre, Marc; Guys, Jean-Michel; de Lagausie, Pascal

    2012-08-01

    The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Linking Brain Arteriovenous Malformations With Anorectal Hemorrhoids: A Clinical and Anatomical Review

    PubMed Central

    Cuoco, Joshua A.; Hoehmann, Christopher L.; Hitscherich, Kyle; Zakhary, Sherry M.; Leheste, Joerg R.

    2017-01-01

    ABSTRACT Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary‐coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease. We also propose that brain arteriovenous malformations might share certain signaling dimensions with those of anorectal hemorrhoids. This working hypothesis provides casual anchors from which to understand vascular diseases characterized by arteriovenous lesions with a hemorrhagic‐ or bleeding‐risk component. Anat Rec, 2017. © The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. Anat Rec, 300:1973–1980, 2017. © 2017 The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. PMID:28696502

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke

    1999-11-15

    We successfully performed embolization therapy for a pelvic arteriovenous malformation by the retrograde transvenous approach using a liquid embolic material. This malformation was unique in that it had a single draining vein, which allowed this technique employing an occlusion balloon.

  3. [Management of occult malformations at the lateral skull base].

    PubMed

    Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

    2005-12-01

    Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

  4. The Dandy-Walker malformation. A review of 40 cases.

    PubMed

    Hirsch, J F; Pierre-Kahn, A; Renier, D; Sainte-Rose, C; Hoppe-Hirsch, E

    1984-09-01

    Forty cases of Dandy-Walker malformation referred to the Hôpital Necker Enfants-Malades between 1969 and 1982 have been reviewed. The incidence of the malformation in hydrocephalus was 2.4%. There was a slight, statistically insignificant, female prevalence. Hydrocephalus should not be included in the definition of the syndrome. In 80% of the cases, it was actually a post-natal complication of the malformation and most often developed within 3 months after birth. In 80% of the cases, a communication, although insufficient, was found between the dilated 4th ventricle and the subarachnoid space. Since this communication is probably established through the foramina of Luschka, the definition of the Dandy-Walker malformation should only include atresia of the foramen of Magendie. Associated brain and systemic malformations were numerous. Among facial anomalies, facial angiomas were found in 10% of our cases. The association of facial and cardiovascular anomalies favors the hypothesis that the onset of the malformation occurs between the formation and the migration of the cells of the neural crest (that is, between the 3rd and the 4th post-ovulatory week, earlier than previously thought). Except in selected patients, membrane excision has a high rate of failure and should be abandoned. Cyst-peritoneal shunting avoids the risk of an entrapped fourth ventricle and is presently the best surgical procedure. The overall mortality in this series was 12.5%. Intelligence quotients were over 80 in 60% of the patients. Other studies will be necessary to understand why the communication between the fourth ventricle and the subarachnoid spaces, sufficient in utero, usually becomes insufficient for a normal cerebrospinal fluid (CSF) circulation in the first months following birth. Two hypotheses are discussed: a change in CSF circulation, or bleeding in the dilated fourth ventricle during delivery.

  5. Abernethy malformation with portal vein aneurysm in a child.

    PubMed

    Chandrashekhara, Sheragaru H; Bhalla, Ashu Seith; Gupta, Arun Kumar; Vikash, C S; Kabra, Susheel Kumar

    2011-01-01

    Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite.

  6. Congenital malformations associated with assisted reproductive technology: a California statewide analysis.

    PubMed

    Kelley-Quon, Lorraine I; Tseng, Chi-Hong; Janzen, Carla; Shew, Stephen B

    2013-06-01

    Management of congenital malformations comprises a large part of pediatric surgical care. Despite increasing utilization of assisted reproductive technology (ART) and fertility-related services (FRS), associations with birth defects are poorly understood. Infants born after ART or FRS were identified from the California Linked Birth Cohort Dataset from 2006 to 2007 and compared to propensity matched infants conceived naturally. Factors associated with major congenital malformations were evaluated using Firth logistic regression. With a cohort of 4,795 infants born after ART and 46,025 naturally conceived matched controls, major congenital malformations were identified in 3,463 infants. Malformations were increased for ART infants (9.0% vs. 6.6%, p<0.001). After adjusting for infant and maternal factors, ART infants exhibited increased odds of major malformations overall (OR 1.25, 95% CI 1.12-1.39), specifically defects of the eye (OR 1.81, 95% CI 1.04-3.16), head and neck (OR 1.37, 95% CI 1.00-1.86), heart (OR 1.41, 95% CI 1.22-1.64), and genitourinary system (OR 1.40, 95% CI 1.09-1.82). The likelihood of birth defects was increased for multiples (OR 1.35, 95% CI 1.18-1.54) and not singletons. Odds of congenital malformation after FRS alone (n=1,749) were non-significant. ART contributes a significant risk of congenital malformation and may be more pronounced for multiples. Accurate counseling for parents considering ART and multidisciplinary coordination of care prior to delivery are warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Urinary infection and malformations of urinary tract in infancy.

    PubMed Central

    Ring, E; Zobel, G

    1988-01-01

    One hundred and forty infants with their first urinary tract infections were studied and pronounced differences in age and sex were found. Two thirds of the patients had their first urinary tract infection during the first three months of life, and boys were significantly younger. There was a predominance of boys from 1-3 months old, but of girls thereafter. Obstructive uropathies occurred more often in boys, and during the first two months of life. The incidence of vesicoureteric reflux was similar for both sexes. Malformations recognised after urinary tract infections were compared with urinary tract malformations recognised prenatally. Fetal urinary tracts were evaluated in just over half of all pregnancies during the study period. Obstructive uropathies and multicystic dysplastic kidneys were more often diagnosed prenatally, and most refluxes were diagnosed after the urinary tract infection. In conclusion age and sex differences are common in urinary tract infection, and even though many urinary tract malformations were diagnosed prenatally this did not influence the high incidence of malformations recognised after urinary tract infection in infancy. PMID:3415299

  8. [The case of completed pregnancy of the patient with Dandy-Walker malformation].

    PubMed

    Beliaeva, E V; Lapshina, L V; Shaposhnikova, E V; Molgachev, A A

    2018-01-01

    Dandy-Walker malformation is a rare disease of the central nervous system pathology (congenital malformations of the fossa cranii posterior). The key features of this syndrome are an enlargement of the fourth ventricle; complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex responsible for coordination of the axial musculature; and cyst formation near the internal base of the skull. Pregnant patients with Dandy-Walker malformation are at high risk and are managed by multidisciplinary teams including neurologists and obstetricians. We present a case report of full-term pregnancy and uncomplicated delivery in a women with Dandy-Walker malformation.

  9. Classification and Current Management of Inner Ear Malformations.

    PubMed

    Sennaroğlu, Levent; Bajin, Münir Demir

    2017-09-29

    Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution computerized tomography and magnetic resonance imaging of the temporal bone reveal normal findings. The remaining 20% have various malformations involving the bony labyrinth and, therefore, can be radiologically demonstrated by computerized tomography and magnetic resonance imaging. The latter group involves surgical challenges as well as problems in decision-making. Some cases may be managed by a hearing aid, others need cochlear implantation, and some cases are candidates for an auditory brainstem implantation (ABI). During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During surgery for inner ear malformations, the surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article, inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcomes after various implantation methods are closely related to the status of the cochlear nerve, and a practical classification of the cochlear nerve deficiency is also provided.

  10. First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

    PubMed

    Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

    2015-03-01

    Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

  11. Abernethy malformation with portal vein aneurysm in a child

    PubMed Central

    Chandrashekhara, Sheragaru H.; Bhalla, Ashu Seith; Gupta, Arun Kumar; Vikash, C. S.; Kabra, Susheel Kumar

    2011-01-01

    Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite. PMID:21430844

  12. Angiotensin converting enzyme inhibitors and aortic arch obstructive malformations.

    PubMed

    Maliheh, Kadivar; Abdorrazagh, Kiani; Armen, Kocharian; Reza, Shabanian

    2006-10-01

    We describe two newborn infants with aortic arch obstructive malformations who became anuric after initiation of captopril. Since angiotensin converting enzyme inhibitors can alter renal blood flow by reduction in angiotensin II and blocking autoregulation phenomenon, it is important to use them with great caution in neonates with aortic arch obstructive malformations, while monitoring their renal function closely.

  13. Inter-Operator Dependence of Magnetic Resonance Image-Based Computational Fluid Dynamics Prediction of Cerebrospinal Fluid Motion in the Cervical Spine

    PubMed Central

    Martin, Bryn A.; Yiallourou, Theresia I.; Pahlavian, Soroush Heidari; Thyagaraj, Suraj; Bunck, Alexander C.; Loth, Francis; Sheffer, Daniel B.; Kröger, Jan Robert; Stergiopulos, Nikolaos

    2015-01-01

    For the first time, inter-operator dependence of MRI based computational fluid dynamics (CFD) modeling of cerebrospinal fluid (CSF) in the cervical spinal subarachnoid space (SSS) is evaluated. In vivo MRI flow measurements and anatomy MRI images were obtained at the cervico-medullary junction of a healthy subject and a Chiari I malformation patient. 3D anatomies of the SSS were reconstructed by manual segmentation by four independent operators for both cases. CFD results were compared at nine axial locations along the SSS in terms of hydrodynamic and geometric parameters. Intraclass correlation (ICC) assessed the inter-operator agreement for each parameter over the axial locations and coefficient of variance (CV) compared the percentage of variance for each parameter between the operators. Greater operator dependence was found for the patient (0.19 0.78). For the healthy subject, hydraulic diameter and Womersley number had the least variance (CV= ~2%). For the patient, peak diastolic velocity and Reynolds number had the smallest variance (CV= ~3%). These results show a high degree of inter-operator reliability for MRI-based CFD simulations of CSF flow in the cervical spine for healthy subjects and a lower degree of reliability for patients with Type I Chiari malformation. PMID:26446009

  14. Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

    PubMed

    Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

    2015-03-01

    Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

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

    PubMed Central

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

    2013-01-01

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

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Boyvat, Fatih, E-mail: boyvatf@yahoo.com; Aytekin, Cueneyt; Harman, Ali

    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.

  17. Brainstem cavernous malformations: anatomical, clinical, and surgical considerations.

    PubMed

    Giliberto, Giuliano; Lanzino, Desiree J; Diehn, Felix E; Factor, David; Flemming, Kelly D; Lanzino, Giuseppe

    2010-09-01

    Symptomatic brainstem cavernous malformations carry a high risk of permanent neurological deficit related to recurrent hemorrhage, which justifies aggressive management. Detailed knowledge of the microscopic and surface anatomy is important for understanding the clinical presentation, predicting possible surgical complications, and formulating an adequate surgical plan. In this article the authors review and illustrate the surgical and microscopic anatomy of the brainstem, provide anatomoclinical correlations, and illustrate a few clinical cases of cavernous malformations in the most common brainstem areas.

  18. Chronic hypertension in pregnancy and the risk of congenital malformations: a cohort study.

    PubMed

    Bateman, Brian T; Huybrechts, Krista F; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Oberg, Anna S; Franklin, Jessica M; Mogun, Helen; Hernandez-Diaz, Sonia

    2015-03-01

    Chronic hypertension is a common medical condition in pregnancy. The purpose of the study was to examine the association between maternal chronic hypertension and the risk of congenital malformations in the offspring. We defined a cohort of 878,126 completed pregnancies linked to infant medical records using the Medicaid Analytic Extract. The risk of congenital malformations was compared between normotensive controls and those with treated and untreated chronic hypertension. Confounding was addressed using propensity score matching. After matching, compared with normotensive controls, pregnancies complicated by treated chronic hypertension were at increased risk of congenital malformations (odds ratio [OR], 1.3; 95% confidence interval [CI], 1.2-1.5), as were pregnancies with untreated chronic hypertension (OR 1.2; 95% CI, 1.1-1.3). In our analysis of organ-specific malformations, both treated and untreated chronic hypertension was associated with a significant increase in the risk of cardiac malformations (OR, 1.6; 95% CI, 1.4-1.9 and OR, 1.5; 95% CI, 1.3-1.7, respectively). These associations persisted across a range of sensitivity analyses. There is a similar increase in the risk of congenital malformations (particularly cardiac malformations) associated with treated and untreated chronic hypertension that is independent of measured confounders. Studies evaluating the teratogenic potential of antihypertensive medications must control for confounding by indication. Fetuses and neonates of mothers with chronic hypertension should be carefully evaluated for potential malformations, particularly cardiac defects. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    PubMed

    Toledo, Luís Felipe; Ribeiro, Ricardo S

    2009-09-01

    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.

  20. Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation.

    PubMed

    Talamonti, Giuseppe; Picano, Marco; Debernardi, Alberto; Bolzon, Moreno; Teruzzi, Mario; D'Aliberti, Giuseppe

    2011-01-01

    The possibility of an association between Dandy-Walker malformation and occipital meningocele is well-known. However, just an overall number of about 40 cases have been previously reported. Giant occipital meningocele has been described only in three newborns. Incidence, pathology, clinical presentation, and proper management of this association are still poorly defined. An 8-year-old boy with Dandy-Walker malformation and giant (25 cm in diameter) occipital meningocele is presented. This boy was born without any apparent occipital mass and harbored no other significant malformations including hydrocephalus. On admission, he was neurologically intact and the giant occipital mass presented partially calcified cyst walls. Treatment consisted of the excision of the occipital malformation, cranioplasty, and cysto-peritoneal shunt. Outcome was excellent. To the best of our knowledge, among the few reported patients with Dandy-Walker malformation associated to occipital meningocele, this is the oldest one and the one with the largest occipital meningocele; he is unique with calcified walls of the occipital meningocele and the only one who survived the repair of the giant malformation. In Dandy-Walker malformation, occipital meningocele may develop and grow regardless of hydrocephalus. Giant size may be reached and the cyst may become calcified. Surgical repair may warrant favorable outcome.

  1. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

    PubMed

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

    2007-06-01

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

  3. A Fuzzy System for Helping Medical Diagnosis of Malformations of Cortical Development

    PubMed Central

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

    2007-01-01

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

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

    PubMed Central

    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

    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

  5. A late presentation of Dandy-Walker malformation and aortic coarctation.

    PubMed

    Venturini, Elio; Magni, Lucia; Pucci, Giovanna; Mazzinghi, Fabio

    2017-05-01

    The Dandy-Walker malformation is a rare anomaly of the posterior cranial fossa. Concomitant brain or systemic malformations are frequent and can influence the outcome. Associated cardiac congenital defects usually induce a poor prognosis. We report a case of a 58-yearold man with hydrocephalus, in whom Dandy-Walker malformation was diagnosed, for the first time, after the demonstration of aortic coarctation. This association is very rare and only a few cases have been described; moreover, to our knowledge, this is the first description of this incidence in a middle-aged patient. The characteristic of diseases and physiopathologic features are discussed, focusing attention on the rare and late clinical manifestations.

  6. Genital malformations in newborns of female nickel-refinery workers.

    PubMed

    Vaktskjold, Arild; Talykova, Ljudmila Vasiljevna; Chashchin, Valerij Petrovitsj; Nieboer, Evert; Thomassen, Yngvar; Odland, Jon Oyvind

    2006-02-01

    This study investigated whether pregnant women employed in nickel-exposed work areas are at elevated risk of delivering a newborn with a genital malformation. In this register-based cohort study, data about pregnancy outcome and occupation were obtained using the Kola Birth Registry. Each record in the Registry was assigned a categorical nickel exposure rating according to the occupation the delivering woman had at the time of becoming pregnant, using, as guidelines, the water-soluble nickel subfraction of the inhalable aerosol fraction obtained by personal monitoring for nickel-refinery workers or the measured urinary nickel concentrations. The reference population comprised delivering women from Moncegorsk with a background exposure level. The association of the outcome with the assigned exposure ratings was analyzed in a logistic regression model, adjusted for parity, maternal malformation, exposure to solvents, and infection in early pregnancy. The odds ratio for nickel-exposed women delivering a newborn with a genital malformation was 0.81 [95% confidence interval (95% CI) 0.52-1.26], and that for an undescended testicle was 0.76 (95% CI 0.40-1.47). In this study no negative effect of maternal exposure to water-soluble nickel was found on the risk of delivering a newborn with malformations of the genital organs. The results should be interpreted with caution since there were few cases in the higher exposure groups. The findings do not exclude the possibility of an effect on the risk of other congenital malformations and adverse outcomes (including reduced fertility).

  7. Investigation on etiology of hepatic venous obstruction Budd-Chiari syndrome.

    PubMed

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

    2014-12-01

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

  8. Simultaneous and sequential hemorrhage of multiple cerebral cavernous malformations: a case report.

    PubMed

    Louis, Nundia; Marsh, Robert

    2016-02-09

    The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.

  9. Brainstem cavernous malformations: Natural history versus surgical management.

    PubMed

    Walcott, Brian P; Choudhri, Omar; Lawton, Michael T

    2016-10-01

    While brainstem cavernous malformations were once considered inoperable, improvements in patient selection, surgical exposures, intraoperative MRI-guidance, MR tractography, and neurophysiologic monitoring have resulted in good outcomes in the majority of operated patients. In a consecutive series of 104 patients with brainstem cavernous malformations, only 14% of patients experienced cranial nerve or motor dysfunction that was worse at late follow-up, relative to their preoperative condition. Outcomes were predicted by several factors, including larger lesion size, lesions that crossed the midline, the presence of a developmental venous anomaly, older age, and greater time interval from lesion hemorrhage to surgery. The 14% of patients who experienced a persistent neurological deficit as a result of surgery, while substantial from any perspective, compares favorably with the risks of observation based on a recent meta-analysis. Curative resection is a safe and effective treatment for brainstem cavernous malformations that will prevent re-hemorrhage in symptomatic patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Hepatoblastoma and Abernethy Malformation Type I: Case Report.

    PubMed

    Correa, Catalina; Luengas, Juan P; Howard, Scott C; Veintemilla, Galo

    2017-03-01

    A 2-year-old boy presented with pneumonia and an abdominal mass was noted incidentally. A right lobe hepatic mass classified as PRETEXT III and congenital absence of the portal vein with drainage of the superior mesenteric vein to the inferior vena cava (Abernethy malformation type I) were confirmed by computed tomography and angiography. After a clinical diagnosis of hepatoblastoma had been made, he was treated with 4 cycles of doxorubicin and cisplatin and hepatic arterial chemoembolization with doxorubicin, after which the tumor was classified as POSTEXT III. He underwent a right extended hepatic lobectomy with resection of the caudate lobe but died on postoperative day 4 due to hepatic failure. The Abernethy malformation type I is associated with the development of hepatic tumors, and the abnormal blood flow might predispose to hepatic failure after liver resection. Extensive study of the hepatic vasculature is warranted in patients with suspected malformations. Liver transplant could be considered in patients with congenital portosystemic shunt and malignant liver tumors.

  11. Assessment of environmental stressors potentially responsible for malformations in North American anuran amphibians.

    PubMed

    Ankley, Gerald T; Degitz, S J; Diamond, S A; Tietge, J E

    2004-05-01

    Several species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of malformations, predominantly of the hindlimb. Research concerning the potential causes of these malformations has focused extensively on three stressors: chemical contaminants, ultraviolet (UV) radiation, and parasitic trematodes. In this overview of recent work with each of these stressors, we assess their plausibility as contributors to the malformations observed in field-collected amphibians. There is as yet little evidence that chemical contaminants are responsible for the limb malformations. This includes chemicals, such as the pesticide methoprene, that could affect retinoid-signaling pathways that are critical to limb development. Exposure to UV radiation also seems to be an unlikely explanation for hindlimb malformations in amphibians. Although solar UV can cause hindlimb deficiencies in amphibians, a probabilistic assessment based on empirical dose-response and exposure data indicates that UV exposures sufficient to induce limb defects would be uncommon in most wetlands. Results of controlled studies conducted with some affected species and field-monitoring work suggest infection by digenetic trematodes as a promising explanation for the malformations observed in anurans collected from many field sites. Controlled experimentation with additional species and monitoring across a broader range of affected sites are required to assess fully the role of trematodes in relation to other stressors in causing limb malformations. If trematode infestations are indeed related to the recent increases in malformed amphibians, then the question remains as to what alterations in the environment might be causing changes in the distribution and abundance of the parasites.

  12. In vitro fertilization (IVF) in Sweden: risk for congenital malformations after different IVF methods.

    PubMed

    Källén, Bengt; Finnström, Orvar; Nygren, Karl Gösta; Olausson, Petra Otterblad

    2005-03-01

    The possible excess of congenital malformations in infants born after in vitro fertilization (IVF) has been much discussed in the literature, with controversial conclusions. This population based study is aimed at analyzing the presence of congenital malformations in a large group of infants born after IVF and to compare malformation risk both with that of all infants born and according to IVF method used. Infants born after IVF during the period 1982-2001 were ascertained from all IVF clinics in Sweden. The presence of congenital malformations was identified from three national health registers: the Swedish Medical Birth Register, the Swedish Registry of Congenital Malformations, and the Swedish Hospital Discharge Register. The IVF children were compared with all children born in Sweden during the same period and recorded in the Swedish Medical Birth Register. Among 16,280 IVF children (30% conceived after intracytoplasmatic sperm injection [ICSI]) a 42% excess of any congenital malformation was found, explainable by parental characteristics and in some cases by the high rate of multiple births. Among these children, 8% had a congenital malformation, and 5% had a relatively severe condition. For neural tube defects, choanal atresia, and alimentary tract atresia, an additional risk increase was seen. There was no difference in malformation rate according to IVF method except for an excess of hypospadias after ICSI. An increased risk for congenital malformations occurs after IVF, similar for the different IVF techniques used, and mainly a consequence of parental characteristics. A few specific conditions show an extra increase in risk. Copyright 2005 Wiley-Liss, Inc.

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

    USGS Publications Warehouse

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

    2001-01-01

    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.

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

    PubMed

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

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

  15. Arnold diffusion for a complete family of perturbations

    NASA Astrophysics Data System (ADS)

    Delshams, Amadeu; Schaefer, Rodrigo G.

    2017-01-01

    In this work we illustrate the Arnold diffusion in a concrete example — the a priori unstable Hamiltonian system of 2 + 1/2 degrees of freedom H( p, q, I, φ, s) = p 2/2+ cos q - 1 + I 2/2 + h( q, φ, s; ɛ) — proving that for any small periodic perturbation of the form h( q, φ, s; ɛ) = ɛ cos q ( a 00 + a 10 cos φ + a 01 cos s) ( a 10 a 01 ≠ 0) there is global instability for the action. For the proof we apply a geometrical mechanism based on the so-called scattering map. This work has the following structure: In the first stage, for a more restricted case ( I* π/2 μ, μ = a 10/ a 01), we use only one scattering map, with a special property: the existence of simple paths of diffusion called highways. Later, in the general case we combine a scattering map with the inner map (inner dynamics) to prove the more general result (the existence of instability for any μ). The bifurcations of the scattering map are also studied as a function of μ. Finally, we give an estimate for the time of diffusion, and we show that this time is primarily the time spent under the scattering map.

  16. Clinical Characteristics of Patients Who Underwent Surgery for Genital Tract Malformations at Peking Union Medical College Hospital across 31 Years.

    PubMed

    Wang, Guang-Han; Zhu, Lan; Liu, Ai-Ming; Xu, Tao; Lang, Jing-He

    2016-10-20

    Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process. The average patient age was 27.6 ± 9.9 years. The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years, respectively; these ages differed significantly (P < 0.01). Among patients with genital tract malformation, the percentages of vaginal malformation, uterine malformation, vulva malformation, cervical malformation, and other malformations were 43.9%, 43.5%, 7.4%, 2.3%, and 2.8%, respectively. Among patients with uterine malformation, 34.5% underwent surgery for the genital tract malformation, whereas in patients with vaginal malformation, the proportion is 70.6%; the difference between the two groups was statistically significant (P < 0.01). The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%, which was statistically significantly higher than that (5.3%) in patients with uterine malformations (P < 0.01). Compared to patients with uterine malformations, patients with vaginal malformations displayed more severe clinical symptoms, a younger surgical age, and a greater need for attention, early diagnosis, and treatment. Patients with genital tract malformations, particularly vaginal malformations, tend to have more complications of the urinary system and other malformations than patients with uterine malformations.

  17. Cerebral dominance for speech and handwriting of patients with cortical vascular malformations.

    PubMed

    Sass, K J; Buchanan, C P; Westerveld, M; Spencer, D D

    1994-10-01

    Lateralization of speech dominance was established using amobarbital for 22 patients with vascular malformations lateralized to the left cerebral hemisphere. Patients' histories were negative for clinically evident neurological events (e.g., seizures or hemorrhage) prior to adulthood. The vascular lesions were categorized as high flow arteriovenous malformations (AVMs) (n = 4), low flow AVMs (n = 6), cavernous hemangiomas (n = 10), or venous angiomas (n = 2) by reviewing angiographic findings and surgical pathology for those patients whose lesions were excised. Three of the malformations encroached upon primary language areas. The frequency of right hemisphere speech dominance was not significantly elevated in comparison with the normal population, even though the incidence of nonright-handedness was. Ninety-five percent of the patients were left hemisphere dominant for speech: only one patient, with a parietal lobe cavernous hemangioma, was found to be right hemisphere dominant for speech. This malformation did not involve the primary language areas. These findings suggest that vascular malformations do not affect speech dominance as readily as other neurological diseases, but frequently affect manual dominance.

  18. Placenta previa and risk of major congenital malformations among singleton births in Finland.

    PubMed

    Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

    2015-06-01

    Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

  19. [Venous and arteriovenous malformations in the head and neck region. Therapeutic options and challenges].

    PubMed

    Eivazi, B; Werner, J A

    2014-01-01

    Venous malformations are the prototype low-flow malformations in the head and neck region. Arteriovenous malformations (AVM) represent the main high-flow malformations. In recent years it has been possible to significantly optimize the therapeutic options for venous malformations. In addition to conventional surgery, laser treatment and sclerotherapy have become established techniques and the importance of embolization with new alcohol-based materials is increasing. AVM are progressive and destructive diseases. Therapy of choice is usually a combined treatment comprising embolization and surgical removal of the arteriovenous nidus. This curative approach is usually possible if diagnosis is made at an early stage. Incomplete embolization or sole ligation of the arterial supply causes progression. There is a clear need for improved therapeutic methods and pharmacotherapeutic approaches.

  20. Frontal Lobe Cavernous Malformations in Pediatric Patients: Clinical Features and Surgical Outcomes.

    PubMed

    Wang, Chengjun; Zhao, Meng; Wang, Jia; Wang, Shuo; Jiang, Zhongli; Zhao, Jizong

    2018-01-01

    The purpose of this study is to investigate the clinical manifestations, surgical treatment, and neurologic outcomes of frontal lobe cavernous malformations in children. A retrospective analysis of 23 pediatric frontal lobe cavernous malformation patients who underwent surgical treatment in Beijing Tiantan Hospital was performed. The case series included 16 boys and 7 girls. Gross total removal without surgical mortality was achieved in all patients. The mean follow-up period after surgery was 33.1 months. Two patients who left hospital with motor deficits gradually recovered after rehabilitative treatment, and other patients were considered to be in excellent clinical condition. For symptomatic frontal lobe cavernous malformations, neurosurgical management should be the treatment of choice. Conservative treatment may be warranted in asymptomatic frontal lobe cavernous malformations, especially the deep-seated or eloquently located cases.

  1. Histologic change of arteriovenous malformations of the face and scalp after free flap transfer.

    PubMed

    Tark, K C; Chung, S

    2000-07-01

    In three patients with long-standing vascular malformations of the face and scalp, radial forearm free flaps were transferred after a near-total excision of the lesion. All patients had typical high-flow malformations with thrill and bruit. The onset and progression of the malformations were analyzed through clinical and histologic studies. After free flap transfer, the vascular malformations were followed up grossly and histologically for between 4 and 9 years. There was no recurrence of arteriovenous malformation after free flap transfer. The portion of the residual lesion adjacent to the transferred free flap disappeared, and the remaining discoloration also vanished grossly. Histologic comparison of immediate postoperative and 4-month postoperative specimens from the margin and residual lesion using Victoria blue staining showed that the typical preoperative findings for arteriovenous malformation-an intermingling of thick-walled vessels with abundant elastic fibers and thin-walled vessels without elastic fibers-had undergone change, resulting in the disappearance of the thick-walled vessels and leaving only homogeneous, thin-walled vasculature. The highly vascularized free flap, which does not contain abnormal fistulas, impacted the histologic change of the arteriovenous malformation by blocking the vicious cycle of ischemia and anatomic replacement of disfigured skin and subcutaneous tissues.

  2. Constructing Masculinities under Thomas Arnold of Rugby (1828-1842): Gender, Educational Policy and School Life in an Early-Victorian Public School

    ERIC Educational Resources Information Center

    Neddam, Fabrice

    2004-01-01

    Thomas Arnold has been a controversial figure for historians of the English public schools. He has been depicted either as the great reformer of these famous institutions or as an ordinary head master who did not do better than his contemporary colleagues. This article seeks to continue the debate about the assessment of his head master-ship by…

  3. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

    PubMed

    Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

    2017-08-10

    Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

  4. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  5. The history of female genital tract malformation classifications and proposal of an updated system.

    PubMed

    Acién, Pedro; Acién, Maribel I

    2011-01-01

    A correct classification of malformations of the female genital tract is essential to prevent unnecessary and inadequate surgical operations and to compare reproductive results. An ideal classification system should be based on aetiopathogenesis and should suggest the appropriate therapeutic strategy. We conducted a systematic review of relevant articles found in PubMed, Scopus, Scirus and ISI webknowledge, and analysis of historical collections of 'female genital malformations' and 'classifications'. Of 124 full-text articles assessed for eligibility, 64 were included because they contained original general, partial or modified classifications. All the existing classifications were analysed and grouped. The unification of terms and concepts was also analysed. Traditionally, malformations of the female genital tract have been catalogued and classified as Müllerian malformations due to agenesis, lack of fusion, the absence of resorption and lack of posterior development of the Müllerian ducts. The American Fertility Society classification of the late 1980s included seven basic groups of malformations also considering the Müllerian development and the relationship of the malformations to fertility. Other classifications are based on different aspects: functional, defects in vertical fusion, embryological or anatomical (Vagina, Cervix, Uterus, Adnex and Associated Malformation: VCUAM classification). However, an embryological-clinical classification system seems to be the most appropriate. Accepting the need for a new classification system of genitourinary malformations that considers the experience gained from the application of the current classification systems, the aetiopathogenesis and that also suggests the appropriate treatment, we proposed an update of our embryological-clinical classification as a new system with six groups of female genitourinary anomalies.

  6. Spine malformation complex in 3 diverse syndromic entities

    PubMed Central

    Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

    2016-01-01

    Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

  7. Fifteen years of experience in the treatment of anorectal malformations.

    PubMed

    Julià, Victoria; Tarrado, Xavier; Prat, Jordi; Saura, Laura; Montaner, Albert; Castañón, Montserrrat; Ribó, Josep Maria

    2010-02-01

    To analyze our experience in the treatment of anorectal malformations (ARM) with the posterior sagittal anorectoplasty (PSARP), and our modifications through the last few years and the outcomes. We reviewed 107 cases divided into two groups: Former (F: 1994-2003) and Recent (R: 2004-2008). Type of ARM, associated anomalies, management and complications were noted. A telephone questionnaire regarding continence outcome was addressed to the 74 cases older than 3 years. According to the type of ARM, there were 53 perineal fistulas, 2 anal stenoses, 11 no fistulas, 12 rectourethral fistulas (5 rectobulbar and 7 rectoprostatic fistulas), 22 vestibular fistulas, 1 rectovesical fistulas and 6 cloacas. A total of 47 patients presented with 73 associated malformations. As much as 45 colostomies were performed, including 5 perineal fístulas, with 6 of 7 vestibular fístulas in group F and only 8 of 15 in group R. We had 19 complications of PSARP. The most frequent one was rectal mucosa prolapse in 14 (12F and 2R) and 2 wound infections (F). Continence was good in 62, poor in 3 and fair in 5. Seven out of eight children with poor or fair continence had associated malformations. All perineal fístulas can be managed without colostomy. Vestibular fístulas can be safely treated without colostomy in otherwise healthy patients without severe malformations. Overall, continence is good, and fair/poor results are related to associated malformations. Cumulative experience helps avoid colostomies and reduce complication and reoperation rates.

  8. Arnold tongues in a billiard problem in nonlinear and nonequilibrium systems

    NASA Astrophysics Data System (ADS)

    Miyaji, Tomoyuki

    2017-02-01

    We study a billiard problem in nonlinear and nonequilibrium systems. This is motivated by the motions of a traveling spot in a reaction-diffusion system (RDS) in a rectangular domain. We consider a four-dimensional dynamical system, defined by ordinary differential equations. This was first derived by S.-I. Ei et al. (2006), based on a reduced system on the center manifold in a neighborhood of a pitchfork bifurcation of a stationary spot for the RDS. In contrast to the classical billiard problem, this defines a dynamical system that is dissipative rather than conservative, and has an attractor. According to previous numerical studies, the attractor of the system changes depending on parameters such as the aspect ratio of the domain. It may be periodic, quasi-periodic, or chaotic. In this paper, we elucidate that it results from parameters crossing Arnold tongues and that the organizing center is a Hopf-Hopf bifurcation of the trivial equilibrium.

  9. Radiation-free quantification of head malformations in craniosynostosis patients from 3D photography

    NASA Astrophysics Data System (ADS)

    Tu, Liyun; Porras, Antonio R.; Oh, Albert; Lepore, Natasha; Mastromanolis, Manuel; Tsering, Deki; Paniagua, Beatriz; Enquobahrie, Andinet; Keating, Robert; Rogers, Gary F.; Linguraru, Marius George

    2018-02-01

    The evaluation of cranial malformations plays an essential role both in the early diagnosis and in the decision to perform surgical treatment for craniosynostosis. In clinical practice, both cranial shape and suture fusion are evaluated using CT images, which involve the use of harmful radiation on children. Three-dimensional (3D) photography offers noninvasive, radiation-free, and anesthetic-free evaluation of craniofacial morphology. The aim of this study is to develop an automated framework to objectively quantify cranial malformations in patients with craniosynostosis from 3D photography. We propose a new method that automatically extracts the cranial shape by identifying a set of landmarks from a 3D photograph. Specifically, it registers the 3D photograph of a patient to a reference template in which the position of the landmarks is known. Then, the method finds the closest cranial shape to that of the patient from a normative statistical shape multi-atlas built from 3D photographs of healthy cases, and uses it to quantify objectively cranial malformations. We calculated the cranial malformations on 17 craniosynostosis patients and we compared them with the malformations of the normative population used to build the multi-atlas. The average malformations of the craniosynostosis cases were 2.68 +/- 0.75 mm, which is significantly higher (p<0.001) than the average malformations of 1.70 +/- 0.41 mm obtained from the normative cases. Our approach can support the quantitative assessment of surgical procedures for cranial vault reconstruction without exposing pediatric patients to harmful radiation.

  10. Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

    PubMed

    Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

    2018-03-20

    Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P < 0.001) (adjusted odds ratio, 1.19 [95% CI, 1.12 to 1.28]). Absolute increases in the prevalence of congenital malformations per 1000 live births were 8.81 cases (CI, 3.92 to 13.70 cases) for propylthiouracil alone, 17.05 cases (CI, 1.94 to 32.15 cases) for methimazole (MMI) alone, and 16.53 cases (CI, 4.73 to 28.32 cases) for propylthiouracil and MMI, compared with pregnancies without ATD prescriptions. In the MMI group, a high cumulative dose (>495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

  11. PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

    PubMed

    Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

    2015-10-01

    Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3

  12. Color-coded perfusion analysis of CEUS for pre-interventional diagnosis of microvascularisation in cases of vascular malformations.

    PubMed

    Teusch, V I; Wohlgemuth, W A; Piehler, A P; Jung, E M

    2014-01-01

    Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

  13. Effect of 60Co gamma radiation on Biomphalaria glabrata (Mollusca, Gastropoda) embryos: mortality, malformation and hatching.

    PubMed

    Okazaki, K; Andrade Júnior, H F; Kawano, T

    1996-08-01

    A study was carried out on the radiosensitivity of Biomphalaria glabrata embryos submitted to doses of 5, 10, 15, 20 and 25 Gy of 60Co during the cleavage, blastula, gastrula, young trochophore and trochophore stages. Mortality, malformation and hatching were the parameters used to evaluate the damage induced by ionizing radiation. Estimated LD50 values (15 days) showed that the cleavage stage (4.3 Gy) was approximately four times more radiosensitive than the trochophore stage (17.0 Gy). Susceptibility to malformation induction was higher in the blastula, gastrula and young trochophore stages. Several types of morphogenetic malformations were observed, such as head malformations, exogastrulas, shell malformations, and embryos with everted stomodeum, with nonspecific malformations being the most frequent. The types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied. The dose of 15 Gy was sufficient to greatly reduce the number of hatching snails regardless of the embryonic stage irradiated. We conclude that the effect of 60Co gamma radiation on B. glabrata embryos presented a specific pattern.

  14. Maternal Use of Opioids During Pregnancy and Congenital Malformations: A Systematic Review

    PubMed Central

    Lind, Jennifer N.; Interrante, Julia D.; Ailes, Elizabeth C.; Gilboa, Suzanne M.; Khan, Sara; Frey, Meghan T.; Dawson, April L.; Honein, Margaret A.; Dowling, Nicole F.; Razzaghi, Hilda; Creanga, Andreea A.; Broussard, Cheryl S.

    2017-01-01

    CONTEXT Opioid use and abuse have increased dramatically in recent years, particularly among women. OBJECTIVES We conducted a systematic review to evaluate the association between prenatal opioid use and congenital malformations. DATA SOURCES We searched Medline and Embase for studies published from 1946 to 2016 and reviewed reference lists to identify additional relevant studies. STUDY SELECTION We included studies that were full-text journal articles and reported the results of original epidemiologic research on prenatal opioid exposure and congenital malformations. We assessed study eligibility in multiple phases using a standardized, duplicate review process. DATA EXTRACTION Data on study characteristics, opioid exposure, timing of exposure during pregnancy, congenital malformations (collectively or as individual subtypes), length of follow-up, and main findings were extracted from eligible studies. RESULTS Of the 68 studies that met our inclusion criteria, 46 had an unexposed comparison group; of those, 30 performed statistical tests to measure associations between maternal opioid use during pregnancy and congenital malformations. Seventeen of these (10 of 12 case-control and 7 of 18 cohort studies) documented statistically significant positive associations. Among the case-control studies, associations with oral clefts and ventricular septal defects/atrial septal defects were the most frequently reported specific malformations. Among the cohort studies, clubfoot was the most frequently reported specific malformation. LIMITATIONS Variabilities in study design, poor study quality, and weaknesses with outcome and exposure measurement. CONCLUSIONS Uncertainty remains regarding the teratogenicity of opioids; a careful assessment of risks and benefits is warranted when considering opioid treatment for women of reproductive age. PMID:28562278

  15. Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

    PubMed

    Whitehead, Matthew T

    2015-06-01

    The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.

  16. Patients with lymphatic malformations who receive the immunostimulant OK-432 experience excellent long-term outcomes.

    PubMed

    Ghaffarpour, N; Petrini, B; Svensson, L A; Boman, K; Wester, T; Claesson, G

    2015-11-01

    Sclerotherapy is the primary treatment for lymphatic malformations. The aim of this study was to evaluate the long-term outcome in patients with lymphatic malformations treated with the immunostimulant OK-432 as a sclerosant. Between 1998 and 2013, we enrolled 131 of 138 eligible patients treated with OK-432 for lymphatic malformations in a retrospective study. The malformations were categorised according to the International Society for the Study of Vascular Anomalies. The outcome was assessed with a clinical examination and a questionnaire. The lymphatic malformations were localised to the head/neck (60%), the trunk (20%) and the extremities (6%) or involved with more than one region (14%). Patients with microcystic (10%), macrocystic (21%) and mixed lymphatic malformations (69%) underwent a median number of three, two and two injection treatments, respectively. The median age at the first injection was 3.4 years. Good or excellent clinical outcomes were seen in 70% of the patients. The number of injections, previous treatment and lesion localisation, but not time to follow-up and cyst size, predicted the clinical outcome. OK-432 treatment resulted in a successful outcome in 70% of patients with lymphatic malformations. The long-term outcome was comparable to the short-term outcome. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  17. Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

    PubMed

    Parsa, Cameron F; Robert, Matthieu P

    2013-04-01

    To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

  18. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

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

    2014-01-01

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

  19. Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

    PubMed

    Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

    2017-03-01

    Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

  20. Editorial brain malformation surveillance in the Zika era

    PubMed Central

    Trevathan, Edwin

    2016-01-01

    The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

  1. Preoperative Embolization of Venous Malformations Using n-Butyl Cyanoacrylate.

    PubMed

    Uller, Wibke; El-Sobky, Sherif; Alomari, Ahmad I; Fishman, Steven J; Spencer, Samantha A; Taghinia, Amir H; Chaudry, Gulraiz

    2018-05-01

    The purpose of this study was to evaluate the safety and efficacy of preoperative percutaneous n-butyl cyanoacrylate (nBCA) embolization of venous malformations in children. Clinical data were retrospectively reviewed in children who underwent embolization using nBCA followed by resection of venous malformations. A total of 17 embolizations were performed in 14 patients (9 females, mean age: 5.5 years; median age: 3 years; range 0.1-16 years). The venous malformations involved the lower extremity and the knee joint (n = 7), the trunk (n = 4), head and neck (n = 2), and hand (n = 1). n-Butyl cyanoacrylate was diluted with iodized oil at a ratio of 1:3 to 1:5. The mean and median volume of nBCA per procedure were 2.1 and 2 mL, respectively (range: 0.5-8 mL). There were no complications associated with the procedures. The mean and median time between final embolization and resection were 3.6 and 2 days, respectively. All children underwent successful resection of the symptomatic lesions. The estimated mean and median blood loss were 75 and 50 mL, respectively (range: 5-350 mL). The postprocedure course was uneventful, the days to discharge ranged between 1 and 6 days (mean 3 days). Initial results suggest that preoperative percutaneous n-butyl cyanoacrylate embolization of venous malformations is safe and effective in children, with the potential for minimizing blood loss and inpatient stay.

  2. Facial nerve mapping and monitoring in lymphatic malformation surgery.

    PubMed

    Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

    2009-10-01

    Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

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

    NASA Technical Reports Server (NTRS)

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

    1992-01-01

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

  4. Usher syndrome associated with a variant of Dandy-Walker malformation.

    PubMed

    Simsek, Tulay; Ozdamar, Yasemin; Simsek, Enver; Men, Gamze

    2010-05-21

    Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome. Copyright 2010, SLACK Incorporated.

  5. 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 ...

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

    PubMed

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

    2001-10-15

    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.

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

    USGS Publications Warehouse

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

    2001-01-01

    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.

  8. Plasma Propulsion Testing Capabilities at Arnold Engineering Development Center

    NASA Technical Reports Server (NTRS)

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

    2007-01-01

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

  9. Stomach arteriovenous malformation resected by laparoscopy-assisted surgery: A case report.

    PubMed

    Hotta, Masahiro; Yamamoto, Kazuhito; Cho, Kazumitsu; Takao, Yoshimune; Fukuoka, Takeshi; Uchida, Eiji

    2016-05-01

    Arteriovenous malformations of the stomach are an uncommon cause of upper GI bleeding. We report a case of stomach arteriovenous malformation in an 85-year-old Asian man who presented with massive hematemesis. Initial esophagogastroduodenoscopy did not detect this lesion, but contrast multi-detector CT confirmed GI bleeding. Multi-detector CT revealed a mass of blood vessels underlying the submucosa that arose from the right gastroepiploic artery. Repeat esophagogastroduodenoscopy showed that the lesion was a submucosal tumor with erosion and without active bleeding in the lower body of the stomach on the greater curvature. We performed partial gastrectomy via laparoscopy-assisted surgery. The histopathological diagnosis was arteriovenous malformation. © 2016 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.

  10. Neonatal arterial hypertension in nephro-urological malformations in a tertiary care hospital.

    PubMed

    Lanzarini, V V; Furusawa, E A; Sadeck, L; Leone, C R; Vaz, F A C; Koch, V H

    2006-09-01

    An increase in the survival of neonates with antenatal diagnosis of malformations was achieved by the recent technical advances in neonatal intensive care units. The aim of this article is to describe the experience with neonatal arterial hypertension, in newborns with nephro-urological malformations, in a tertiary care referral Nursery, in a period of 4 years. Newborn medical records from the Nursery Annex to the Maternity of Hospital das Clinicas, School of Medicine, University of Sao Paulo, with the diagnosis of nephro-urological malformations and systemic arterial hypertension (SAH) at hospital discharge, in a period from January 1999 to January 2003, were retrospectively analysed. Among 10.278 live newborns in the studied period, 15 (0.15%) newborns were compatible with our inclusion criteria. Of these 15 newborns, 12 (80%) were male and three were premature (20%). In relation to aetiology, 13 (87%) showed urological malformations, 1 (6%) chronic renal insufficiency secondary to kidney dysplasia and one (6%) autosomal recessive polycystic kidney disease. SAH control was achieved with monotherapy in eight patients (53%), five patients (33%) needed an association of two drugs (calcium-channel blocker and angiotensin converting enzyme (ACE) inhibitor), one child used three types of antihypertensive drugs (calcium-channel blocker, ACE inhibitor and hydrochlorothiazide) for pressoric control and one child's blood pressure (BP) was controlled exclusively by peritoneal dialysis. The incidence of nephro-urological malformations in our service during the studied period was 0.89%. SAH incidence among these newborns was 19%. Our data reinforce previous studies pointing to the necessity to consider children with nephro-urological malformations as a risk group for SAH, who should have the BP evaluated since the neonatal period.

  11. [Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice].

    PubMed

    Gu, Y; Hasegawa, T; Kim, H; Suzuki, I; Mori, T; Yamamoto, Y

    2000-12-01

    ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2-(alpha-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level.

  12. Parasitic twin--a supernumerary limb associated with spinal malformations. A case report.

    PubMed

    Sahlu, Abat; Mesfin, Brook; Tirsit, Abenezer; Debebe, Tequam; Wester, Knut

    2016-03-01

    We describe a case of rachipagus parasitic twin with spinal cord malformations (lipomyelomeningocele and tethered cord) in a 7-month-old Ethiopian infant. The parasitic mass had a well-formed foot, ankle and lower leg and a small sinus that resembled an anus. Magnetic resonance imaging scans revealed spinal malformations including a distal syringohydromyelia. The mass was successfully resected and the dural attachment was closed. Histopathological examination confirmed the diagnosis. Postoperatively, the child had unchanged, intact neurological function in both lower limbs. Almost all rachipagus parasitic twins are associated with spinal malformations. They should, therefore, be operated on by surgeons experienced in myelomeningocele surgery.

  13. Maternal reproductive history and the risk of isolated congenital malformations.

    PubMed

    Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

    2011-03-01

    We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

  14. Computational modelling for the embolization of brain arteriovenous malformations.

    PubMed

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

    2012-09-01

    Treatment of arteriovenous malformations (AVMs) of the brain often requires the injection of a liquid embolic material to reduce blood flow through the malformation. The type of the liquid and the location of injection have to be carefully planned in a pre-operative manner. We introduce a new model of the interaction of liquid embolic materials with blood for the simulation of their propagation and solidification in the AVM. Solidification is mimicked by an increase of the material's viscosity. Propagation is modelled by using the concept of two-fluids modelling and that of scalar transport. The method is tested on digital phantoms and on one anatomically derived patient AVM case. Simulations showed that intuitive behaviour of the two-fluid system can be confirmed and that two types of glue propagation through the malformation can be reproduced. Distinction between the two types of propagation could be used to identify fistulous and plexiform compartments composing the AVM and to characterize the solidification of the embolic material in them. Copyright © 2011 IPEM. Published by Elsevier Ltd. All rights reserved.

  15. Discrepancy between the clinical and histopathologic diagnosis of soft tissue vascular malformations.

    PubMed

    Horbach, Sophie E R; Utami, Amalia M; Meijer-Jorna, Lorine B; Sillevis Smitt, J H; Spuls, Phyllis I; van der Horst, Chantal M A M; van der Wal, Allard C

    2017-11-01

    Soft tissue vascular malformations are generally diagnosed clinically, according to the International Society for the Study of Vascular Anomalies (ISSVA) classification. Diagnostic histopathologic examination is rarely performed. We sought to evaluate the validity of the current diagnostic workup without routinely performed diagnostic histopathology. We retrospectively determined whether there were discrepancies between clinical and histopathologic diagnoses of patients with clinically diagnosed vascular malformations undergoing therapeutic surgical resections in our center (2000-2015). Beforehand, a pathologist revised the histopathologic diagnoses according to the ISSVA classification. Clinical and histopathologic diagnoses were discrepant in 57% of 142 cases. In these cases, the pathologist indicated the diagnosis was not at all a vascular malformation (n = 24; 17%), a completely different type of vascular malformation (n = 26; 18%), or a partially different type with regard to the combination of vessel-types involved (n = 31; 22%). Possible factors associated with the discrepancies were both clinician-related (eg, diagnostic uncertainty) and pathology-related (eg, lack of immunostaining). Retrospective analysis of a subgroup of patients undergoing surgery. The large discrepancy between clinical and histopathologic diagnoses raises doubt about the validity of the current diagnostic workup for vascular malformations. Clear clinical and histopathologic diagnostic criteria might be essential for a uniform diagnosis. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

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

    USGS Publications Warehouse

    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

    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.

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

    PubMed Central

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

    2005-01-01

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

  18. Proximity to pollution sources and risk of amphibian limb malformation.

    PubMed

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

    2005-11-01

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

  19. Noncoding copy-number variations are associated with congenital limb malformation.

    PubMed

    Flöttmann, Ricarda; Kragesteen, Bjørt K; Geuer, Sinje; Socha, Magdalena; Allou, Lila; Sowińska-Seidler, Anna; Bosquillon de Jarcy, Laure; Wagner, Johannes; Jamsheer, Aleksander; Oehl-Jaschkowitz, Barbara; Wittler, Lars; de Silva, Deepthi; Kurth, Ingo; Maya, Idit; Santos-Simarro, Fernando; Hülsemann, Wiebke; Klopocki, Eva; Mountford, Roger; Fryer, Alan; Borck, Guntram; Horn, Denise; Lapunzina, Pablo; Wilson, Meredith; Mascrez, Bénédicte; Duboule, Denis; Mundlos, Stefan; Spielmann, Malte

    2017-10-12

    PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of disease-associated CNVs in patients with congenital limb malformations that affect noncoding cis-regulatory sequences versus genes sensitive to gene dosage effects.MethodsWe applied high-resolution copy-number analysis to 340 unrelated individuals with isolated limb malformation. To investigate novel candidate CNVs, we re-engineered human CNVs in mice using clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing.ResultsOf the individuals studied, 10% harbored CNVs segregating with the phenotype in the affected families. We identified 31 CNVs previously associated with congenital limb malformations and four novel candidate CNVs. Most of the disease-associated CNVs (57%) affected the noncoding cis-regulatory genome, while only 43% included a known disease gene and were likely to result from gene dosage effects. In transgenic mice harboring four novel candidate CNVs, we observed altered gene expression in all cases, indicating that the CNVs had a regulatory effect either by changing the enhancer dosage or altering the topological associating domain architecture of the genome.ConclusionOur findings suggest that CNVs affecting noncoding regulatory elements are a major cause of congenital limb malformations.Genetics in Medicine advance online publication, 12 October 2017; doi:10.1038/gim.2017.154.

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

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Andersen, Poul Erik; Kjeldsen, Anette D.

    2008-05-15

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