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Sample records for arnold chiari malformation

  1. Acute Porphyria in a Patient with Arnold Chiari Malformation

    PubMed Central

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

    2015-01-01

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

  2. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

    PubMed Central

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

    2016-01-01

    Abstract 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. PMID:27149441

  3. 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…

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

    PubMed

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

    2014-12-01

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

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

    SciTech Connect

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

    1983-02-01

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

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

    PubMed Central

    McArthur, Ross A

    1994-01-01

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

  8. Chiari Malformation

    MedlinePlus

    ... Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & ... spine that can lead to nerve damage or paralysis. Chiari malformations also can happen after brain or spinal surgery. Doctors haven't identified a ...

  9. [The basilar impression and the Arnold-Chiari malformation. Techno-surgical considerations apropos of 13 cases].

    PubMed

    Gonçalves da Silva, J A; Gonçalves da Silva, C E; de Farias Brito, J C; Rodrigues de Sousa, M; Gonçalves da Silva, J B

    1978-03-01

    The surgical technic for decompression of the posterior fossa in cases of basilar impression and malformation of Arnold-Chiari mainly based in (1) endotracheal intubation without any flexion of the head, (2) position of the head without anterior flexion during the surgery, (3) plastic of the posterior fossa with dura-mater of cadaver conserved in glicerina, was emploied in 13 patients. The plastic was made to create space at the craniocervical joint in order to avoid cerebrospinal fluid fistula and to restore the integrity of the dura. Infection was not observed. PMID:637743

  10. [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

    Introduccion. El sindrome de Noonan (SN) y otros sindromes con fenotipo similar, como LEOPARD, cardiofaciocutaneo, Costello y Legius, estan asociados a mutaciones en genes incluidos en la via RAS/MAPK (rasopatias), una importante via de señalizacion relacionada con la proliferacion celular. El descenso de las amigdalas cerebelares dentro del canal medular cervical, conocido como malformacion de Arnold-Chiari (MAC), se ha descrito en pacientes afectos de SN, lo que ha llevado a sugerir que la MAC podria formar parte del espectro fenotipico del SN. Presentamos dos casos con SN y MAC. Casos clinicos. Caso 1: mujer de 29 años con fenotipo de Noonan. Fue intervenida a los 9 años de estenosis valvular pulmonar. A los 27 años, presento MAC sintomatica que preciso descompresion quirurgica. Presentaba mutacion c.922A>G (N308D) en el gen PTPN perteneciente a la via RAS/MAPK. Caso 2: niña de 10 años con fenotipo de Noonan y MAC asintomatica detectada en resonancia magnetica cerebral. Era portadora de la mutacion c.923A>G (N308S) en el gen PTPN11. Conclusiones. Hemos encontrado en la bibliografia seis pacientes con esta asociacion, cuatro con fenotipo Noonan y dos con LEOPARD. Nuestros dos pacientes aportan evidencia suplementaria a la hipotesis de que la MAC formaria parte del espectro fenotipico del SN. El escaso numero de pacientes publicados con esta asociacion no permite extraer recomendaciones sobre el momento y la frecuencia de estudio de neuroimagen; no obstante, una exploracion neurologica cuidadosa deberia incluirse en la guia anticipatoria de salud en los sindromes de la via RAS/MAPK.

  11. Familial Chiari malformation: case series.

    PubMed

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E

    2011-09-01

    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  12. Unusual Ventilatory Response to Exercise in Patient with Arnold-Chiari Type 1 Malformation after Posterior Fossa Decompression

    PubMed Central

    Smith, Keely; Gomez-Rubio, Ana M.; Harris, Tomika S.; Brooks, Lauren E.

    2016-01-01

    We present a case of a 17-year-old Hispanic male with Arnold-Chiari Type 1 [AC-Type 1] with syringomyelia, status post decompression, who complains of exercise intolerance, headaches, and fatigue with exertion. The patient was found to have diurnal hypercapnia and nocturnal alveolar hypoventilation. Cardiopulmonary testing revealed blunting of the ventilatory response to the rise in carbon dioxide (CO2) resulting in failure of the parallel correlation between increased CO2 levels and ventilation; the expected vertical relationship between PETCO2 and minute ventilation during exercise was replaced with an almost horizontal relationship. No new pathology of the brainstem was discovered by MRI or neurological evaluation to explain this phenomenon. The patient was placed on continuous noninvasive open ventilation (NIOV) during the day and CPAP at night for a period of 6 months. His pCO2 level decreased to normal limits and his symptoms improved; specifically, he experienced less headaches and fatigue during exercise. In this report, we describe the abnormal response to exercise that patients with AC-Type 1 could potentially experience, even after decompression, characterized by the impairment of ventilator response to hypercapnia during exertion, reflecting a complete loss of chemical influence on breathing with no evidence of abnormality in the corticospinal pathway. PMID:27418995

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

    PubMed Central

    Sergent, Adam W.; Cofano, Gregory P.

    2014-01-01

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

  14. Chiari Malformation: Diagnosis

    MedlinePlus

    ... Chiari, but can be a result of life-style changes due to Chiari The broad array of ... is measuring CSF Flow? • Bridging The Patient- Doctor Communication Gap (Part 1 of 3) • Bridging The Patient- ...

  15. Chiari Malformation: Treatment

    MedlinePlus

    ... endorse any doctors, procedures, or products. © 2012 C&S Patient Education Foundation, ® Treatment Options Patients evaluated for Chiari-like ... when there is a significant syrinx © 2012 C&S Patient Education Foundation, ® This presentation is for informational purposes, consult ...

  16. Chiari Malformations and Syringohydromyelia in Children.

    PubMed

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

    2016-04-01

    Chiari malformations are a heterogeneous group of disorders with distinct clinical anatomical features all of which involve the hindbrain. Our understanding of Chiari malformations increased tremendously over the past decades, and progress in neuroimaging was instrumental for that. Conventional and advanced neuroimaging of the brain and spine play a key role in the workup of children with suspected Chiari malformations. In addition, neuroimaging studies in Chiari malformations may guide the management, serve as a predictor of outcome, and shed light on the pathogenesis. PMID:27063663

  17. Papilloedema due to Chiari I malformation.

    PubMed

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

    2011-10-16

    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.

  18. Clinical Outcome Measures in Chiari I Malformation.

    PubMed

    Yarbrough, Chester K; Greenberg, Jacob K; Park, Tae Sung

    2015-10-01

    Chiari malformation type 1 (CM-I) is a common and often debilitating neurologic disease. Reliable evaluation of treatments has been hampered by inconsistent use of clinical outcome measures. A variety of outcome measurement tools are available, although few have been validated in CM-I. The recent development of the Chicago Chiari Outcome Scale and the Chiari Symptom Profile provides CM-I-specific instruments to measure outcomes in adults and children, although validation and refinement may be necessary.

  19. Chiari malformations: diagnosis, treatments and failures.

    PubMed

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

    2014-12-01

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

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

    PubMed Central

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

    2010-01-01

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

  1. Neurogenic dysphagia resulting from Chiari malformations.

    PubMed

    Pollack, I F; Pang, D; Kocoshis, S; Putnam, P

    1992-05-01

    Between 1980 and 1989, 15 of 46 patients (11 children, 4 adults) who underwent suboccipital craniectomy and cervical laminectomy for symptomatic Chiari malformations presented with manifestations of neurogenic dysphagia. Each of these patients had normal swallowing function before the development of dysphagic symptoms. Dysphagia was progressive in all 15 and, in most cases, preceded the onset of other severe brain stem signs. The rate of symptom progression varied depending on the age of the patient. Whereas the six infants (all Chiari II) deteriorated rapidly after the onset of initial symptoms, the five older children (two Chiari I, three Chiari II) and four adults (all Chiari I) showed a more gradual deterioration. In 11 patients with severe dysphagia, barium video esophagograms, pharyngoesophageal motility studies, continuous esophageal pH monitoring, and appropriate scintigraphic studies were useful in defining the scope of the swallowing impairment and determining whether perioperative nasogastric or gastrostomy feedings, gastric fundoplication, and/or tracheostomy were needed to maintain adequate nutrition and avoid aspiration. These patients all had widespread dysfunction of the swallowing mechanism, with a combination of diffuse pharyngoesophageal dysmotility, cricopharyngeal achalasia, nasal regurgitation, tracheal aspiration, and gastroesophageal reflux. The pathophysiology of these swallowing impairments and their relation to the hindbrain malformation is discussed. Postoperative outcome with regard to swallowing function correlated with the severity of preoperative symptoms. The four patients with mild dysphagia showed rapid improvement in swallowing function after surgery. Seven patients with more severe impairment but without other signs of severe brain stem compromise, such as central apnea or complete bilateral vocal cord paralysis, also improved, albeit more slowly. In contrast, the outcome in the four patients who developed other signs of severe

  2. Craniovertebral Junction Instability in the Setting of Chiari I Malformation.

    PubMed

    Goldstein, Hannah E; Anderson, Richard C E

    2015-10-01

    This article addresses the key features, clinical presentation, and radiographic findings associated with craniovertebral junction instability in the setting of Chiari I malformation. It further discusses surgical technique for treating patients with Chiari I malformation with concomitant craniovertebral junction instability, focusing on modern posterior rigid instrumentation and fusion techniques.

  3. 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.

  4. Prevalence of Chiari I Malformation and Syringomyelia.

    PubMed

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

    2015-10-01

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

  5. Acquired Chiari malformation type I associated with a supratentorial fistulous arteriovenous malformation: a case report.

    PubMed

    Chen, Kuo-Wei; Kuo, Meng-Fai; Lee, Chung-Wei; Tu, Yong-Kwang

    2015-03-01

    A case of acquired Chiari malformation type I with frontal fistulous arteriovenous malformation (AVM) is presented, and the pathophysiology is discussed. The tonsillar herniation and hydrocephalus both resolved after AVM was excised. This case provides some insight into the complex hemodynamic change exerted by the fistulous AVM and the mechanism of the development of acquired Chiari malformation type I.

  6. [Brainstem auditory evoked potentials and somatosensory evoked potentials in Chiari malformation].

    PubMed

    Moncho, Dulce; Poca, María A; Minoves, Teresa; Ferré, Alejandro; Rahnama, Kimia; Sahuquillo, Juan

    2013-06-16

    Introduccion. La malformacion de Chiari (MC) incluye una serie de anomalias congenitas que tienen como comun denominador la ectopia de las amigdalas del cerebelo por debajo del foramen magno, lo que puede condicionar fenomenos compresivos del troncoencefalo, la medula espinal alta y los nervios craneales, alterando las respuestas de los potenciales evocados auditivos del tronco cerebral (PEATC) y de los potenciales evocados somatosensoriales (PESS). Sin embargo, las indicaciones de ambas exploraciones en las MC han sido motivo de estudio en un numero limitado de publicaciones, centradas en series cortas y heterogeneas de pacientes. Objetivo. Revisar los hallazgos de los PEATC y los PESS en los estudios publicados en pacientes con MC tipo 1 (MC-1) o tipo 2 (MC-2), y su indicacion en el diagnostico, tratamiento y seguimiento, especialmente en la MC-1. Desarrollo. Es un estudio de revision realizado mediante analisis de los estudios publicados en Medline desde 1966, localizados mediante PubMed, utilizando combinaciones de las palabras clave 'Chiari malformation', 'Arnold-Chiari malformation', 'Chiari type 1 malformation', 'Arnold-Chiari type 1 malformation', 'evoked potentials', 'brainstem auditory evoked potentials' y 'somatosensory evoked potentials', asi como informacion de pacientes con MC-1 valorados en los servicios de neurocirugia y neurofisiologia clinica del Hospital Universitari Vall d'Hebron. Conclusiones. Los hallazgos mas comunes de los PESS son la reduccion en la amplitud cortical para el nervio tibial posterior, la reduccion o ausencia del potencial cervical del nervio mediano y el aumento del intervalo N13-N20. En el caso de los PEATC, los hallazgos mas frecuentes descritos son el aumento del intervalo I-V y la alteracion periferica o coclear.

  7. Stenogyria - not only in Chiari II malformation.

    PubMed

    Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Brągoszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

    2014-12-15

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

  8. 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.

  9. 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.

  10. 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.

  11. Chiari malformations: An important cause of pediatric aspiration.

    PubMed

    Fuller, Jennifer C; Sinha, Sumi; Caruso, Paul A; Hersh, Cheryl J; Butler, William E; Krishnamoorthy, Kalpathy S; Hartnick, Christopher J

    2016-09-01

    Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology. Patients were referred to neurosurgery and underwent posterior fossa decompression with symptom improvement. A high index of suspicion for Chiari malformation should be maintained when the standard work up for aspiration is non-diagnostic, particularly when non-specific neurologic symptoms are present. PMID:27497399

  12. 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.

  13. 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. PMID:26956833

  14. 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.

  15. Morning glory disc anomaly with Chiari type I malformation.

    PubMed

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L

    2014-04-30

    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation.

  16. Spinal Deformity Associated with Chiari Malformation.

    PubMed

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

    2015-10-01

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

  17. Type I Chiari malformation presenting with laryngomalacia and dysphagia.

    PubMed

    Liu, Christopher; Ulualp, Seckin O

    2015-08-01

    We describe clinical features of an infant with laryngomalacia and dysphagia caused by type I Chiari malformation (CM-I). A 12-month-old child presented with a 6 month history of progressive stridor, dysphagia, and gastroesophageal reflux. Examination of the airway and swallowing function indicated mild laryngomalacia and aspiration with all consistencies. Magnetic resonance imaging of the brain indicated CM-I. Symptoms were resolved after posterior fossa decompression. CM-I, typically diagnosed later in life, should be considered in the differential diagnosis of laryngomalacia and dysphagia. High clinical suspicion and thorough search for abnormalities ensure early diagnosis and proper management of children with neurologic variant laryngomalacia. PMID:26031456

  18. NREM Sleep Parasomnia Associated with Chiari I Malformation

    PubMed Central

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

    2011-01-01

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

  19. 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.

  20. 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.

  1. Non-operative outcomes in Chiari I malformation patients.

    PubMed

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

    2015-01-01

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

  2. A rare course of scoliosis associated with Chiari malformation and syringomyelia.

    PubMed

    Tanaka, Masato; Sugimoto, Yoshihisa; Arataki, Shinya; Takigawa, Tomoyuki; Ozaki, Toshifumi

    2014-01-01

    Spinal deformity is an important clinical manifestation of Chiari I malformation (CM-I) and syringomyelia. Here we report the result of an 8-year follow-up of a 13-year-old girl with severe scoliosis associated with Chiari malformation and a large syringomyelia. The patient presented at our hospital at the age of 13 with a 68° scoliosis. Magnetic resonance imaging showed Chiari malformation and a large syringomyelia. Neurosurgical treatment involved foramen magnum decompression and partial C1 laminectomy, but the scoliosis still progressed. We present the first case report of a rare course of scoliosis in a patient with CM-I and a large syringomyelia.

  3. 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.

  4. Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

    PubMed

    Parsley, Lea; Bellus, Gary; Handler, Michael; Tsai, Anne Chun-Hui

    2011-11-01

    Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes in recent years. Two previous studies have noted an association of Chiari malformations with Rubinstein-Taybi syndrome (RTS). In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. RTS has been found to be associated with craniocervical abnormalities in literature review, and this clinical report demonstrates the prudent consideration of the physician who cares for patients impacted by RTS to effectively screen via symptomatology and physical examination for Chiari pathology or other craniocervical abnormalities. PMID:21932317

  5. Smooth ocular pursuit in Chiari type II malformation.

    PubMed

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

    2007-04-01

    Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of spinal lesion level, number of shunt revisions, nystagmus, and brain dysmorphology on SP. SP was recorded using an infrared eye tracker in 21 participants with CII (11 males, 10 females; age range 8-19y, mean 14y 3mo [SD 3y 2mo]). Thirty-eight healthy children (21 males, 17 females) constituted the comparison group. Participants followed a visual target moving sinusoidally at +/- 10 degrees amplitude, horizontally and vertically at 0.25 or 0.5Hz. SP gains, the ratio of eye to target velocities, were abnormal in the CII group with nystagmus (n= 8). The number of shunt revisions (range 0-10), brain dysmorphology, or spinal lesion level (n= 15 for lower and n= 6 for upper spinal lesion level) did not correlate with SP gains. SP is impaired in children with CII and nystagmus. Abnormal pursuit might be related to the CII dysgenesis or to effects of hydrocephalus. The lack of effect of shunt revisions and abnormal tracking in participants with nystagmus provide evidence that it is related primarily to the cerebellar and brainstem malformation.

  6. Peak CSF Velocities in Patients with Symptomatic and Asymptomatic Chiari I Malformation

    PubMed Central

    Krueger, K.D.; Haughton, V.M.; Hetzel, S.

    2011-01-01

    BACKGROUND AND PURPOSE PCMR is used to evaluate the Chiari I malformation. We compared quantitative PCMR in symptomatic and asymptomatic patients with Chiari I. MATERIALS AND METHODS PCMR image data in an axial section near the foramen magnum in a consecutive series of patients with Chiari I malformations were evaluated. Patients were classified as symptomatic for a Chiari I if they had apnea spells and/or exertional headaches and as asymptomatic if they had symptoms not considered specific for a Chiari I malformation. The PCMR CSF flow study was obtained with the same protocol for all patients and with the neck in neutral, flexed, and extended positions. Images were inspected for CSF flow jets and synchronous bidirectional flow. Peak CSF flow velocities were calculated with commercial software. Differences between the 2 groups were tested with mixed-effects ANOVA and Wilcoxon rank sum or Fisher exact probability tests with significance set at the .05 level. RESULTS Twenty-six patients with Chiari I were classified as symptomatic, and 24, as asymptomatic. Abnormal flow jets tended to occur more often in the symptomatic than in the asymptomatic patients (P = .054). Peak CSF velocities ranged from 2 to 20 cm/s in the symptomatic and the asymptomatic groups and did not differ significantly between the 2 groups or with neck position. CONCLUSIONS Peak CSF flow velocities near the foramen magnum did not differentiate symptomatic and asymptomatic patients with Chiari I. PMID:20884747

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

    PubMed Central

    Memarpour, Roya; Gonzalez-Ibarra, Fernando

    2015-01-01

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

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

    PubMed

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

    2013-04-01

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

  9. Optical Coherence Tomography in Patients with Chiari I Malformation

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2011-01-01

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

  11. Fractal dimension analysis of cerebellum in Chiari Malformation type I.

    PubMed

    Akar, Engin; Kara, Sadık; Akdemir, Hidayet; Kırış, Adem

    2015-09-01

    Chiari Malformation type I (CM-I) is a serious neurological disorder that is characterized by hindbrain herniation. Our aim was to evaluate the usefulness of fractal analysis in CM-I patients. To examine the morphological complexity features of this disorder, fractal dimension (FD) of cerebellar regions were estimated from magnetic resonance images (MRI) of 17 patients with CM-I and 16 healthy control subjects in this study. The areas of white matter (WM), gray matter (GM) and cerebrospinal fluid (CSF) were calculated and the corresponding FD values were computed using a 2D box-counting method in both groups. The results indicated that CM-I patients had significantly higher (p<0.05) FD values of GM, WM and CSF tissues compared to control group. According to the results of correlation analysis between FD values and the corresponding area values, FD and area values of GM tissues in the patients group were found to be correlated. The results of the present study suggest that FD values of cerebellar regions may be a discriminative feature and a useful marker for investigation of abnormalities in the cerebellum of CM-I patients. Further studies to explore the changes in cerebellar regions with the help of 3D FD analysis and volumetric calculations should be performed as a future work.

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

    PubMed

    Mahaney, Kelly B; Menezes, Arnold H

    2014-11-01

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

  13. 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

  14. Surgical History of Sleep Apnea in Pediatric Patients with Chiari Type 1 Malformation.

    PubMed

    Pomeraniec, Isaac Jonathan; Ksendzovsky, Alexander; Yu, Pearl L; Jane, John A

    2015-10-01

    Sleep apnea represents a relative indication for posterior fossa decompression in pediatric patients with Chiari malformation type 1. Duraplasty was associated with improvement of sleep apnea in 100% of patients and dural splitting with improvement in 50% of patients. Duraplasty and dural splitting were associated with a similar reduction in tonsillar herniation on radiographic imaging of 58% (37% excluding tonsillectomy) and 35%, respectively. Longitudinal follow-up studies of patients with either neurologic deficits or severe symptoms will further elucidate the natural history of Chiari malformation type 1 and more appropriately gauge the risk-benefit tradeoff of surgical intervention.

  15. Surgical Outcome of Adult Idiopathic Chiari Malformation Type 1

    PubMed Central

    Yuh, Woon Tak; Kim, Chi Heon; Kim, Hyun-Jib; Jahng, Tae-Ahn; Park, Sung Bae

    2016-01-01

    Objective The pathophysiology of idiopathic Chiari malformation (CM) type 1 is disturbance of free cerebrospinal fluid (CSF) flow and restoration of normal CSF flow is the mainstay of treatment. Additional migration of the medulla oblongata in pediatric patients is referred to as CM type 1.5, but its significance in adult patients is unknown. This study is to compare surgical outcomes of adult idiopathic CM type 1.5 with that of type 1. Methods Thirty-eight consecutive adult patients (M : F=11 : 27; median, 33.5; range, 18–63) with syringomyelia due to idiopathic CM type 1 were reviewed. Migration of the medulla oblongata was noted in 13 patients. The modified McCormick scale (MMS) was used to evaluate functional status before and one year after surgery. All patients underwent foramen magnum decompression and duroplasty. Factors related to radiological success (≥50% decrease in the diameter of the syrinx) were investigated. The follow-up period was 72.7±55.6 months. Results Preoperative functional status were MMS I in 11 patients and MMS II in 14 of CM type 1 and MMS I in 8 and II in 5 of CM type 1.5. Of patients with MMS II, 5/14 patients in group A and 3/5 patients in group B showed improvement and there was no case of deterioration. Radiological success was achieved in 32 (84%) patients and restoration of the cisterna magna (p=0.01; OR, 46.5) was the only significant factor. Conclusion Migration of the medulla oblongata did not make a difference in the surgical outcome when the cisterna magna was restored. PMID:27651871

  16. Surgical Outcome of Adult Idiopathic Chiari Malformation Type 1

    PubMed Central

    Yuh, Woon Tak; Kim, Chi Heon; Kim, Hyun-Jib; Jahng, Tae-Ahn; Park, Sung Bae

    2016-01-01

    Objective The pathophysiology of idiopathic Chiari malformation (CM) type 1 is disturbance of free cerebrospinal fluid (CSF) flow and restoration of normal CSF flow is the mainstay of treatment. Additional migration of the medulla oblongata in pediatric patients is referred to as CM type 1.5, but its significance in adult patients is unknown. This study is to compare surgical outcomes of adult idiopathic CM type 1.5 with that of type 1. Methods Thirty-eight consecutive adult patients (M : F=11 : 27; median, 33.5; range, 18–63) with syringomyelia due to idiopathic CM type 1 were reviewed. Migration of the medulla oblongata was noted in 13 patients. The modified McCormick scale (MMS) was used to evaluate functional status before and one year after surgery. All patients underwent foramen magnum decompression and duroplasty. Factors related to radiological success (≥50% decrease in the diameter of the syrinx) were investigated. The follow-up period was 72.7±55.6 months. Results Preoperative functional status were MMS I in 11 patients and MMS II in 14 of CM type 1 and MMS I in 8 and II in 5 of CM type 1.5. Of patients with MMS II, 5/14 patients in group A and 3/5 patients in group B showed improvement and there was no case of deterioration. Radiological success was achieved in 32 (84%) patients and restoration of the cisterna magna (p=0.01; OR, 46.5) was the only significant factor. Conclusion Migration of the medulla oblongata did not make a difference in the surgical outcome when the cisterna magna was restored.

  17. Association of Chiari I malformation and cerebellar ectopia with sensorineural hearing loss.

    PubMed

    Haktanir, Alpay; Yücedağ, Fatih; Kaçar, Emre; Ulu, Sahin; Gültekin, Mehmet Ali; Ünlü, Ebru; Bucak, Abdülkadir; Ayçiçek, Abdullah

    2013-07-01

    We aimed to examine the prevalence of cerebellar tonsil ectopia and Chiari 1 malformation in sensorineural hearing loss (SHL) that has, to the best of our knowledge, not been studied previously. Magnetic resonance imaging records of 166 subjects with SHL and 50 controls without known otologic disturbances were included in the study. A tonsils descent more than 2 mm was assumed as cerebellar ectopia, and a descent equal to or more than 5 mm was assumed as Chiari 1 malformation. A tonsil descent group was also formed by summation of both groups. Transverse diameters of bilateral intracranial vertebral arteries and transverse sinuses were also measured, and all parameters were analyzed using appropriate statistics. A significant difference of frequencies of Chiari 1, ectopia, and tonsil descent was detected between patients and controls. In comparison of cerebellar ectopia and Chiari 1 groups, SHL did not show any significant difference. The left lateral sinus diameter showed positive correlation with tonsil descent. There was no significant correlation for the diameters of other vessels. A powerful correlation was detected between SHL and age. In addition, right and vertebral artery diameters showed positive correlations with age. Chiari 1 malformation and cerebellar ectopia showed an association with SHL. These patients should also be evaluated for otologic disturbances. Further high-resolution magnetic resonance imaging studies to explain the exact cause of this currently unknown association seems required.

  18. 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…

  19. 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.

  20. 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

  1. A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.

    PubMed

    Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki

    2014-01-01

    A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important.

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

    PubMed

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

    2014-02-01

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

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

    PubMed

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

    2015-04-01

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

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

    PubMed Central

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

    2014-01-01

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

  5. Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child.

    PubMed

    Guillen, A; Costa, J M

    2004-02-01

    A child with complete spontaneous resolution of a Chiari I malformation associated Syringomyelia without surgical intervention is presented. The child was followed clinically by serial magnetic resonance imaging (MRI) and remains neurologically stable after 8-years of follow-up. To our knowledge, only 6 pediatric cases with spontaneous resolution of a spinal cord syrinx documented by MRI without surgical intervention have been reported. This case is of interest in the light of the postulated theories to explain spontaneous resolution of syringomyelia.

  6. Changes in cerebrospinal fluid flow assessed using intraoperative MRI during posterior fossa decompression for Chiari malformation.

    PubMed

    Bond, Aaron E; Jane, John A; Liu, Kenneth C; Oldfield, Edward H

    2015-05-01

    OBJECT The authors completed a prospective, institutional review board-approved study using intraoperative MRI (iMRI) in patients undergoing posterior fossa decompression (PFD) for Chiari I malformation. The purpose of the study was to examine the utility of iMRI in determining when an adequate decompression had been performed. METHODS Patients with symptomatic Chiari I malformations with imaging findings of obstruction of the CSF space at the foramen magnum, with or without syringomyelia, were considered candidates for surgery. All patients underwent complete T1, T2, and cine MRI studies in the supine position preoperatively as a baseline. After the patient was placed prone with the neck flexed in position for surgery, iMRI was performed. The patient then underwent a bone decompression of the foramen magnum and arch of C-1, and the MRI was repeated. If obstruction was still present, then in a stepwise fashion the patient underwent dural splitting, duraplasty, and coagulation of the tonsils, with an iMRI study performed after each step guiding the decision to proceed further. RESULTS Eighteen patients underwent PFD for Chiari I malformations between November 2011 and February 2013; 15 prone preincision iMRIs were performed. Fourteen of these patients (93%) demonstrated significant improvement of CSF flow through the foramen magnum dorsal to the tonsils with positioning only. This improvement was so notable that changes in CSF flow as a result of the bone decompression were difficult to discern. CONCLUSIONS The authors observed significant CSF flow changes when simply positioning the patient for surgery. These results put into question intraoperative flow assessments that suggest adequate decompression by PFD, whether by iMRI or intraoperative ultrasound. The use of intraoperative imaging during PFD for Chiari I malformation, whether by ultrasound or iMRI, is limited by CSF flow dynamics across the foramen magnum that change significantly when the patient is

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

    PubMed Central

    2014-01-01

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

  8. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    PubMed Central

    Moscote-Salazar, Luis Rafael; Zabaleta-Churio, Nasly; Alcala-Cerra, Gabriel; M. Rubiano, Andres; Calderon-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Agrawal, Amit

    2016-01-01

    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomyelia associated with a CM-I exacerbated within 2 years of a TBI, and to discuss issues related to that condition. PMID:27162930

  9. [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

    Antecedentes: la disfagia con afección neurológica constituye un dato clínico significativo en el diagnóstico de lesiones que justifiquen la compresión del tronco cerebral y los nervios craneales bajos. Objetivo: destacar la importancia del estudio de la disfagia en una paciente con malformación de Chiari tipo I y siringomielia, sin síntomas gastroenterológicos primarios. Caso clínico: se comunica el caso de una mujer de 62 años de edad con disfagia orofaríngea de seis años de evolución, cervicobraquialgia, ptosis palpebral y diplejía facial. Conclusiones: el estudio por resonancia magnética constituye un elemento fundamental para establecer el diagnóstico causal de la disfagia neurogénica.

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

    PubMed

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

    2015-06-01

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

  11. Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy.

    PubMed

    Tijssen, Maud Pm; Poretti, Andrea; Huisman, Thierry Agm

    2016-10-01

    We describe the neuroimaging findings of an 11-year-old boy who presented with mild occipital headache and precocious puberty. This child was found to have a combination of various midline anomalies including a Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal with adjacent intracranial dermoid cyst.

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

    PubMed

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

    2016-01-01

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

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

    PubMed

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

    2015-11-01

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

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

    PubMed

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

    2015-11-01

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

  15. 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

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

    PubMed

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

    2013-03-01

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

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

    PubMed

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

    2011-12-01

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

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

    PubMed

    Canpolat, Aydin; Akçakaya, Mehmet Osman; Altunrende, Emre; Ozlü, Harun Mehmet; Duman, Hakan; Ton, Tuğrul; Akdemir, Osman

    2014-01-01

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

  19. Chiari Malformation

    MedlinePlus

    ... indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening ... through an abnormal opening in the back or skull. Type III causes severe neurological defects. Type IV ...

  20. Conquer Chiari

    MedlinePlus

    ... latest research updates and current events What Is Chiari Malformation? a serious neurological disorder where the bottom part of the brain, the cerebellum, descends out of the skull and crowds the spinal cord, putting pressure on both the brain and spine and ... Common Symptoms Chiari has a wide ranging, diverse set of symptoms ...

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

    PubMed

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

    2016-03-01

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

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

    PubMed

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

    2016-03-01

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

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

    PubMed Central

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

    2016-01-01

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

  4. Neurologic variant laryngomalacia associated with Chiari malformation and cervicomedullary compression: case reports.

    PubMed

    Petersson, Rajanya S; Wetjen, Nicholas M; Thompson, Dana M

    2011-02-01

    Two infants presented with intermittent stridor and evidence of laryngomalacia on flexible laryngoscopy. The first was a 10-month-old girl who had undergone 3 supraglottoplasty surgeries at an outside institution, without long-term resolution of symptoms. She was found during our evaluation to have a Chiari malformation. Laryngomalacia symptoms resolved after suboccipital decompression and C1 laminectomy, and the patient remained symptom-free at 6-month follow-up. The second infant was a 24-day-old boy with velocardiofacial syndrome who was found to have posterior cervicomedullary junction compression at the level of C1. He underwent C1 laminectomy for decompression of the brain stem, which resulted in immediate resolution of symptoms, and he remained symptom-free at 12-month follow-up. Neurologic abnormalities have been reported in up to 50% of infants with laryngomalacia. As such, brain stem dysfunction should be considered among the causes of laryngomalacia during evaluation, especially in patients with failure of supraglottoplasty. Both of these infants had resolution of symptoms after their neurosurgical procedures. PMID:21391421

  5. 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.

  6. Surgical treatment of type I Chiari malformation: the role of Magendie's foramen opening e tonsils manipulation.

    PubMed

    Vidal, Claudio Henrique Fernandes

    2015-02-01

    The treatment for type 1 Chiari malformation (CM 1) is one of the most controversial topics in the neurosurgical field. The present study evaluated two of the most applied surgical techniques to treat CM 1. Method 32 patients were evaluated and divided in two groups: group 1 had 16 patients that were submitted to decompression of occipital bone and dura mater of the craniovertebral junction (CVJ); group 2 also had 16 patients and in addition to the previous procedure, they were submitted to Magendie's foramen opening e tonsils manipulation. The comparison between the groups included neurological exam and cerebrospinal fluid flow imaging during pre and postoperative periods. Results Both techniques were equivalents in terms of neurological improvement of the patients (p > 0.05), but the group 2 had more surgical complications, with relative risk of 2.45 (CI 1.55-3.86) for adverse events. Whatever the cerebrospinal fluid flow at CVJ, the patients of the group 1 achieved greater amount of flow than the group 2 (p < 0.05) during the postoperative period. Conclusion The cranial and dural decompression of the CVJ without arachnoidal violation was the best surgical intervention for treatment of CM 1, between these two compared techniques.

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2014-02-01

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

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

    PubMed

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

    2014-02-01

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

  11. Shunt malfunction causing acute neurological deterioration in 2 patients with previously asymptomatic Chiari malformation Type I. Report of two cases.

    PubMed

    Elliott, Robert; Kalhorn, Stephen; Pacione, Donato; Weiner, Howard; Wisoff, Jeffrey; Harter, David

    2009-08-01

    Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or shunt malfunction, to the authors' knowledge only 1 report describing ventriculoperitoneal (VP) shunt malfunction causing neurological deterioration in a patient with CM-I exists. The authors report on their experience with the treatment of previously asymptomatic CM-I in 2 children who experienced quite different manifestations of acute neurological deterioration secondary to VP shunt malfunction. Presumably, VP shunt malfunction created a positive rostral pressure gradient across a stenotic foramen magnum, resulting in tetraparesis from foramen magnum syndrome in 1 patient and acute ataxia and cranial nerve deficits from syringobulbia in the other. Although urgent shunt revisions yielded partial recovery of neurological function in both patients, marked improvement occurred only after posterior fossa decompression.

  12. Acute VI nerve palsy in a 4 year-old girl with Chiari I malformation and pontomedullary extension of syringomyelia: case report and review of the literature.

    PubMed

    Massey, Shavonne L; Buland, Justin; Hauber, Stacey; Piatt, Joseph; Goraya, Jatinder; Faerber, Eric; Valencia, Ignacio

    2011-07-01

    We report the case of a previously healthy 4 year-old African American female who presented to the emergency department with acute onset of unilateral abducens nerve palsy and torticollis. Within 12 h of presentation, the patient's symptoms progressed to include ipsilateral facial nerve palsy and gait ataxia. On exam, the patient demonstrated right cranial nerve VI and VII palsies, ataxic gait with left lateropulsion, spasticity of bilateral lower extremities with clonus, and the presence of bilateral Babinski sign. MRI of the brain and spinal cord revealed severe Chiari I malformation with associated extensive holochord syringomyelia and syringobulbia. The patient underwent successful surgical decompression 72 h after initial presentation. We review the literature on Chiari malformations and syringomyelia, including epidemiology, presentation and neurological manifestations, and treatment recommendations. As our patient had a very acute presentation, we additionally review the previously reported cases of acute and atypical presentation of patients with Chiari I malformation and syringomyelia. The aim of this report is to make practitioners aware of the acuteness with which children with Chiari malformation type I with syringomyelia and syringobulbia can present.

  13. Patient-reported Chiari malformation type I symptoms and diagnostic experiences: a report from the national Conquer Chiari Patient Registry database.

    PubMed

    Fischbein, Rebecca; Saling, Julia R; Marty, Paige; Kropp, Denise; Meeker, James; Amerine, Jenna; Chyatte, Michelle Renee

    2015-09-01

    Chiari malformation (CM) is a condition in which cerebellar tonsillar ectopia may manifest with various clinical presentations. This study reports from the only national, online patient registry available, the symptoms, comorbid neurocognitive and psychological conditions, and diagnostic experiences of patients living with CM type I (CM I). The current research is one component of a large investigation designed to collect information from individuals with CM through the online Conquer Chiari Patient Registry questionnaire. Analyses included descriptive statistics to study body system impact and patient diagnostic experiences. Participants were 768 individuals with CM I and were predominantly female (86.8 %) and Caucasian (93.8 %) with an average age of 35 years. Pain was the most frequently reported symptom (76.69 %) experienced prior to diagnosis with headaches implicated most often (73.44 %). Neurocognitive comorbidities included memory difficulties (43.88 %) and aphasia (43.75 %) and psychological disorders such as depression (31.77 %) and anxiety disorders (19.92 %) were reported. Average time to diagnosis from first physician visit to diagnosis was 3.43 years, and only 8.46 % of patients had previous awareness of CM. CM I diagnosis was found incidentally for 24.87 % of participants. Common misdiagnoses were classified as psychological (19.26 %) and neurological (19.26 %). Fear was the most frequent emotion elicited at the time of correct diagnosis (42.19 %). CM I can be a challenging condition for patients and physicians, during both the search for diagnosis and management of symptoms. Patient and physician education about CM I may permit early intervention and the prevention of further deterioration and patient suffering.

  14. 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.

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

    PubMed

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

    2015-06-01

    OBJECT Extradural decompression is a minimally invasive technique for treating Chiari malformation Type I (CM-I) that avoids the complications of dural opening. While there is no agreement on which surgical method is optimal, mounting evidence demonstrates that extradural decompression effectively treats clinical symptoms, with a minimal reoperation rate. Neurological symptoms such as headache may be related to obstructed flow of CSF, and one aspect of successful extradural decompression is improved CSF dynamics. In this series, the authors report on their use of phase-contrast cine flow MRI to assess CSF flow as well as satisfactory decompression. METHODS The authors describe their first surgical series of 18 patients with CM-I undergoing extradural decompression and correlate clinical improvement with radiological changes. Patients were categorized as having complete, partial, or no resolution of their symptoms. Posterior fossa area, cisterna magna area, and tonsillar herniation were assessed on T2-weighted MRI, whereas improvement of CSF flow was evaluated with phase-contrast cine flow MRI. All patients received standard pre- and postoperative MRI studies; 8 (44.4%) patients had pre- and postoperative phase-contrast cine, while the rest underwent cine studies only postoperatively. RESULTS All 18 patients presented with symptomatic CM-I, with imaging studies demonstrating tonsillar herniation ≥ 5 mm, and 2 patients had associated syringomelia. All patients underwent suboccipital decompression and C-1 laminectomy with splitting of the dura. Patients with complete resolution of their symptoms had a greater relative increase in cisterna magna area compared with those with only partial improvement (p = 0.022). In addition, in those with complete improvement the preoperative cisterna magna area was smaller than in those who had either partial (0.020) or no (0.025) improvement. Ten (91%) of the 11 patients with improved flow also had improvement in their symptoms

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

    PubMed

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

    2016-03-01

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

  17. Neurofibromatosis type 1 and Chiari type 1 malformation: A case report and literature review of a rare association

    PubMed Central

    Pozetti, Marianne; Belsuzarri, Telmo Augusto Barba; Belsuzarri, Natalia C. B.; Seixas, Naira B.; Araujo, João F. M.

    2016-01-01

    Background: The association between neurofibromatosis type 1 (NF-I) and Chiari I malformation (CMI) is rare, and not many studies are reported in the literature. Performing magnetic resonance imaging (MRI) in patients with NF-1 is essential because several cases of Chiari type I are completely asymptomatic. We emphasize the need for inclusion of Chiari I as diagnosis in association with NF-1. Case Description: The patient was a 51-year-old black man who presented with complaints of pain and decreased motion and sensibility of his hands, wrists, and forearms, along with progressive dysarthria. Even though the computed tomography (CT) scan of the skull did not show changes, the MRI showed hydro/syringomyelia in the cervical spine area. Midline suboccipital craniectomy with total laminectomy of c1 and partial laminectomy of c2 was performed; tonsillectomy was also performed for cistern expansion because of intense thickening and obliteration of the obex by the cerebellar tonsils. Following treatment, the patient showed remission of symptoms. Conclusion: NF-1 in association with CMI is rare, and early diagnosis and surgical treatment are essential to slow down the myelopathy; although they prevent neurological damages, patients with NF-1 must remain under doctor's attention in case of association with CMI. Our literature review showed that symptoms can vary and include headache, gait disturbance, and sensory/motor diminution, until asymptomatic patients. Moreover, the incidence of NF-1 is considerably higher in CMI patients in comparison to the global incidence (8.6–11.8% and 0.775%, respectively). The surgical technique must be evaluated case by case according to the degree of cerebrospinal fluid obstruction. PMID:27500008

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

    PubMed Central

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

    2016-01-01

    Purpose 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. Methods 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. Results 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. Conclusion 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. PMID:27727298

  20. Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome.

    PubMed

    Urgun, Kamran; Yılmaz, Baran; Toktaş, Zafer Orkun; Akakın, Akın; Konya, Deniz; Demir, Mustafa Kemal; Kılıç, Türker

    2016-01-01

    Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Here, we report concomitant, double ABCs in bilateral occipital regions and FD from the skull base to the C2 vertebra with Chiari type 1 malformation. A 14-year-old female with a diagnosis of McCune-Albright syndrome presented with swellings at the back of her head. The lesions were consistent with ABCs and were totally resected with reconstruction of the calvarial defects. The coexistence of FD, bilateral occipital ABCs, and Chiari malformation type 1 in a McCune-Albright patient is an extremely rare condition and, to our knowledge, has not been reported to date. Exact diagnosis and appropriate surgical treatment usually lead to a good outcome.

  1. American Syringomyelia & Chiari Alliance Project

    MedlinePlus

    ... Expectations Patients, Family & Friends: For those living with Chiari malformation and syringomyelia — and the families and friends who ... resources you need, organized for easy retrieval. Conditions • Chiari Malformation • Syringomyelia • Newsletter • Medical Articles • Related Disorders • BJO Scholarships • ...

  2. The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?

    PubMed Central

    2016-01-01

    A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention. This was followed by improvement in attaining developmental milestones. Recently, he was diagnosed with growth hormone deficiency. This case suggests the potential association of CM-I with PHP-Ia. Larger studies are needed to assess whether CM-I with hydrocephalus are common associations with PHP-Ia and to define potential genetic links between these conditions. We propose a low threshold in performing brain MRI on PHP-1a patients, especially those with persistent developmental delay to rule out CM-I. Early intervention may improve neurodevelopmental outcomes and prevent neurosurgical emergencies. PMID:27703483

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

    PubMed

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

    2015-03-01

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

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

    PubMed

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

    2015-04-01

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

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

    PubMed

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

    2015-04-01

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

  6. Assessment of cerebellar pulsation in dogs with and without Chiari-like malformation and syringomyelia using cardiac-gated cine magnetic resonance imaging.

    PubMed

    Driver, C J; Watts, V; Bunck, A C; Van Ham, L M; Volk, H A

    2013-10-01

    Canine Chiari-like malformation (CM) is characterised by herniation of part of the cerebellum through the foramen magnum. In humans with Chiari type I malformation (CM-I), abnormal pulsation of the cerebellum during the cardiac cycle has been documented and is pivotal to theories for the pathogenesis of syringomyelia (SM). In this retrospective study, cardiac-gated cine balanced fast field echo (bFEE) magnetic resonance imaging (MRI) was used to assess pulsation of the brain in dogs and to objectively measure the degree of cerebellar pulsation with the neck in a flexed position. Overall, 17 Cavalier King Charles Spaniels (CKCS) with CM, including eight with SM and nine without SM, were compared with six small breed control dogs. Linear regions of interest were generated for the length of cerebellar herniation from each phase of the cardiac cycle and the degree of cerebellar pulsation was subsequently calculated. Age, bodyweight and angle of neck flexion were also compared. CKCS with CM and SM had significantly greater pulsation of the cerebellum than control dogs (P=0.003) and CKCS with CM only (P=0.031). There was no significant difference in age, bodyweight and angle of neck flexion between the three groups. Cardiac-gated cine bFEE MRI permitted the dynamic visualisation of cerebellar pulsation in dogs. These findings support the current theories regarding the pathogenesis of SM secondary to CM and further highlight the similarities between canine CM and human CM-I.

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

    PubMed Central

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

    2014-01-01

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

  8. 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.

  9. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?

    PubMed

    Wójcik, Cezary; Volz, Kim; Ranola, Maria; Kitch, Karla; Karim, Tariza; O'Neil, Joseph; Smith, Jodi; Torres-Martinez, Wilfredo

    2010-02-01

    Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.

  10. Chiari Malformation: Symptoms

    MedlinePlus

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

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

    PubMed

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

    2016-03-01

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

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    2015-08-01

    OBJECT Chiari malformation Type I (CM-I) in children is a common incidental finding. Resolution of cerebellar tonsil ectopia has been reported, but no studies have followed tonsil position over regular intervals throughout childhood. To better elucidate the clinical and radiological natural history of CM-I in children, the authors prospectively followed up children with nonoperatively managed CM-I for up to 7 years. METHODS The study included all children evaluated for CM-I over a period of 12 years for whom surgery was not initially recommended. The study excluded patients with associated conditions, including syringomyelia and hydrocephalus. For all patients, initial management was nonoperative, and follow-up management consisted of annual cervical spine or brain MRI and clinical examination. At each follow-up examination, the neurological examination findings, subjective symptoms, and the position of the cerebellar tonsils on MR images were recorded. An alteration in tonsillar descent of 2 mm or greater was considered a change. RESULTS Neurological examination findings did not change over the course of the study in the 52 children who met the inclusion criteria. Although radiological changes were common, no surgeries were performed solely because of radiological change. Overall, tonsil position on radiological images remained stable in 50% of patients, was reduced in 38%, and increased in 12%. Resolution was seen in 12% of patients. Radiological changes in tonsil position were seen during every year of follow-up. On average, in any given year, 24% of images showed some form of change in tonsil position. A total of 3 patients, for whom no changes were seen on MR images, ultimately underwent surgery for subjective clinical reasons. CONCLUSIONS CM-I in children is not a radiologically static entity but rather is a dynamic one. Radiological changes were seen throughout the 7 years of follow-up. A reduction in tonsillar descent was substantially more common than an

  14. Malformations of dorsal induction.

    PubMed

    Kanekar, Sangam; Kaneda, Heather; Shively, Alexis

    2011-06-01

    Dorsal induction includes the formation and closure of neural tube, occurs during 3-5 weeks of gestation. Neurulation occurs in two phases, primary neurulation (formation of the neural plate and subsequently neural tube) and secondary neurulation (formation of distal cord and sacral and coccygeal segments). Failure of dorsal induction leads to anencephaly, exencephaly, cephaloceles, Chiari malformation and spinal dysraphism. In this article we discuss the relevant embryology, etiopathology and detail imaging appearances of these malformations.

  15. [Budd-Chiari syndrome].

    PubMed

    Plessier, A

    2013-12-01

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

  16. The quantum Arnold transformation

    NASA Astrophysics Data System (ADS)

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

    2011-02-01

    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, including systems with friction linear in velocity, can be related to the quantum free-particle dynamical system. This transformation provides a basic (Heisenberg-Weyl) algebra of quantum operators, along with well-defined Hermitian operators which can be chosen as evolution-like observables and complete the entire Schrödinger algebra. It also proves to be very helpful in performing certain computations quickly, to obtain, for example, wavefunctions and closed analytic expressions for time-evolution operators.

  17. 75 FR 17169 - Nextera Energy Duane Arnold, LLC, Duane Arnold Energy Center; Exemption

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-05

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

  18. Bill Arnold: Scientist, philosopher, friend.

    PubMed

    Pearlstein, R M

    1996-05-01

    Bill Arnold is a great scientist in whose laboratory I was privileged to work during the years he discovered the thermoluminescence and the electroluminescence of green plants. I reminisce about Bill's influences on me, scientific and otherwise, during those years.

  19. 09-NIF Dedication: Arnold Schwarzenegger

    SciTech Connect

    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.

  20. 09-NIF Dedication: Arnold Schwarzenegger

    ScienceCinema

    Governor Arnold Schwarzenegger

    2016-07-12

    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.

  1. Arnold Aberman, MD.

    PubMed

    Aberman, A

    1995-10-01

    When the United States embarked on its effort to provide universal health insurance, the Canadian Medicare System was cited as a possible model for American health care. Often touted as an example of low-cost, high quality medicine, the Canadian system has mirrored the problems of health care across its southern border. With rocketing health care expenditures and financing having largely been decentralized to the individual provinces, local officials have struggled to cut costs and services. A central focus of these efforts has been a move to decrease the numbers of physicians, most notably a 10% decrease in medical school class size in 1993. While some Western provinces have experimented with the privatization of health care, the Canadian system still remains the epitome of government operated fee-for-service medicine. Given the likelihood of dramatic change in the American Medicare system, Canadian academic centers offer a unique perspective on the impact of capitation, evolving relationships with government payors, and the flip side of market oriented reforms. At the helm of one of Canada's largest schools is Arnold Aberman, MD, dean of the University of Toronto Faculty of Medicine. Born in Montreal, Quebec, Aberman received his MD from McGill University, but then did his residency both in Canada and the US, followed by a pulmonary fellowship at Albert Einstein College of Medicine and the Cardiovascular Research Institute of the University of California, San Francisco. Interviewed at his office in Toronto, Aberman reflected on the trials and tribulations confronting medicine on both sides of the 48th parallel.

  2. 75 FR 13318 - Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Environmental Assessment and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-19

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

  3. 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 ...

  4. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

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

  5. 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.

  6. Benedict Arnold: A Question of Honor.

    ERIC Educational Resources Information Center

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

    2003-01-01

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

  7. 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…

  8. 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, ...

  9. Three-dimensional tori and Arnold tongues

    SciTech Connect

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

    2014-03-15

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

  10. Three-dimensional tori and Arnold tongues

    NASA Astrophysics Data System (ADS)

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

    2014-03-01

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

  11. Quantum Realization of Arnold Scrambling for IFRQI

    NASA Astrophysics Data System (ADS)

    Sang, Jianzhi; Wang, Shen; Shi, Xue; Li, Qiong

    2016-08-01

    This paper is concerned with the feasibility of the Arnold scrambling based on Improved Flexible Representation of Quantum Images (IFRQI). Firstly, the flexible representation of quantum image is updated to the improved flexible representation of quantum image (IFRQI) to represent a quantum image with arbitrary size L × B. Then, by making use of Control-NOT gate and Adder-Modular operation, the concrete quantum circuit of Arnold scrambling for IFRQI is designed. Simulation results show the effectiveness of the proposed circuit.

  12. INTERIOR OF BARN HAYLOFT, LOOKING WEST (Charles Arnold added a ...

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

    INTERIOR OF BARN HAYLOFT, LOOKING WEST (Charles Arnold added a Cleaning Mill to the barn's hayloft c. 1960. This photograph shows the elevator, chaff shoot, and metal funnel that still remain. The barn's gambrel roof is supported by a three-hinged arch truss system) - Arnold Farm, Barn, 1948 Arnold Road, Coupeville, Island County, WA

  13. 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

    ... renewal) include no action and reasonable alternative energy sources. As discussed in Section 9.4 of the... COMMISSION Nextera Energy Duane Arnold, LLC; Duane Arnold Energy Center; Notice of Availability of the Final... operation for the Duane Arnold Energy Center (DAEC). The DAEC is located in Linn County, Iowa,...

  14. 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.

  15. Discourse Integration by Manipulation: Matthew Arnold.

    ERIC Educational Resources Information Center

    Crismore, Avon

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

  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. Carroll C. Arnold: Roar for the Lion.

    ERIC Educational Resources Information Center

    Einhorn, Lois J.

    1986-01-01

    Describes how Carroll C. Arnold's rare combination of intelligence, skill, dedication, and compassion have made him one of the great teachers in the speech communication classroom. Praises his qualities as a scholar, teacher, professional, and human being. Describes how his works are continuing to shape the field of speech communication. (JD)

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Wheeler, David L.

    1999-01-01

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

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

    ERIC Educational Resources Information Center

    Brodie, Carolyn S.

    2005-01-01

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

  2. 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.

  3. 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.

  4. Arnold Gesell and the maturation controversy.

    PubMed

    Dalton, Thomas C

    2005-01-01

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

  5. Arnold diffusion in a driven optical lattice.

    PubMed

    Boretz, Yingyue; Reichl, L E

    2016-03-01

    The effect of time-periodic forces on matter has been a topic of growing interest since the advent of lasers. It is known that dynamical systems with 2.5 or more degrees of freedom are intrinsically unstable. As a consequence, time-periodic driven systems can experience large excursions in energy. We analyze the classical and quantum dynamics of rubidium atoms confined to a time-periodic optical lattice with 2.5 degrees of freedom. When the laser polarizations are orthogonal, the system consists of two 1.5 uncoupled dynamical systems. When laser polarizations are turned away from orthogonal, an Arnold web forms and the dynamics undergoes a fundamental change. For parallel polarizations, we find huge random excursions in the rubidium atom energies and significant entanglement of energies in the quantum dynamics. PMID:27078351

  6. Intraoral venous malformation with phleboliths

    PubMed Central

    Mohan, Ravi Prakash S.; Dhillon, Manu; Gill, Navneet

    2011-01-01

    The most common type of vascular malformation is the venous malformation and these are occasionally associated with phleboliths. We report a case of a 45 year old woman with intraoral venous malformation with phleboliths. PMID:24151422

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

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

    32. Historic American Buildings Survey, Arnold Moses, Photographer February 23, 1937, DETAIL OF CARVED SWAG ON PULPIT, CLERK'S DESK. - St. Paul's Chapel, Broadway & Fulton Streets, New York County, NY

  9. 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. PMID:27423798

  10. Budd-Chiari Syndrome in a Patient with Hepatitis C.

    PubMed

    Frankl, Joseph; Hennemeyer, Charles; Flores, Michael S; Desai, Archita P

    2016-01-01

    Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient's symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension. PMID:27525135

  11. Budd-Chiari Syndrome in a Patient with Hepatitis C

    PubMed Central

    Hennemeyer, Charles; Flores, Michael S.

    2016-01-01

    Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient's symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension. PMID:27525135

  12. A unifying hypothesis for hydrocephalus and the Chiari malformations part two: The hydrocephalus filling mechanism.

    PubMed

    Williams, Helen

    2016-09-01

    It is proposed that negative central nervous system (CNS) pressure is one of the filling mechanisms of the fluid spaces of the CNS. Negative CNS pressure is caused by the combination of gravitational force and body movement. The venous system imposes pressure fluctuations on the CNS due to changes in posture and body cavity pressure. It is proposed here that filling of veins, arteries and cerebrospinal (CSF) spaces are all assisted by negative CNS pressure. Hyperemia in the CNS in response to pressure changes with movement was described in the first part of this hypothesis. By this means parenchyma water levels may increase (Williams, 2008). In the developmental forms of hydrocephalus expansion of CSF spaces is a more prominent feature than parenchyma water changes. This feature is explained by this second part of the hypothesis where the negative pulsatility of pressure that can accompany positive pressure pulsatility, which occurs with body movement, is described as the pathological force that leads to cavity filling. When CNS compliance is lost there is overrepresentation of low and well as high pressure pulsations in response to body movements. Pressure that leads to the development of hydrocephalus can be described as being abnormally labile. Negative CNS pressure causes cavity filling in an analogous way to pleural cavity filling, with water passing from parenchyma tissue. Positive pressure within the pressure profile may cause expansion of regions of the CNS skeletal system that are able to grow such as the cranial vault so that large head size is a frequent accompaniment to hydrocephalus that is caused by this mechanism. Hydrocephalic disorders that are characterised by negative pressure filling mechanism often have a skeletal anatomical abnormality that causes reduced CNS compliance and adversely affect neural development. This is often in the form of obstruction to CSF flow around the base of the brain that then leads to vault expansion by means of high pressure pulsation and ventricle enlargement by means of low pressure pulsation. In health pressure pulsatility does not lead to enduring changes in water distribution within the CNS compartments but it assists physiological water balance.

  13. A unifying hypothesis for hydrocephalus and the Chiari malformations part two: The hydrocephalus filling mechanism.

    PubMed

    Williams, Helen

    2016-09-01

    It is proposed that negative central nervous system (CNS) pressure is one of the filling mechanisms of the fluid spaces of the CNS. Negative CNS pressure is caused by the combination of gravitational force and body movement. The venous system imposes pressure fluctuations on the CNS due to changes in posture and body cavity pressure. It is proposed here that filling of veins, arteries and cerebrospinal (CSF) spaces are all assisted by negative CNS pressure. Hyperemia in the CNS in response to pressure changes with movement was described in the first part of this hypothesis. By this means parenchyma water levels may increase (Williams, 2008). In the developmental forms of hydrocephalus expansion of CSF spaces is a more prominent feature than parenchyma water changes. This feature is explained by this second part of the hypothesis where the negative pulsatility of pressure that can accompany positive pressure pulsatility, which occurs with body movement, is described as the pathological force that leads to cavity filling. When CNS compliance is lost there is overrepresentation of low and well as high pressure pulsations in response to body movements. Pressure that leads to the development of hydrocephalus can be described as being abnormally labile. Negative CNS pressure causes cavity filling in an analogous way to pleural cavity filling, with water passing from parenchyma tissue. Positive pressure within the pressure profile may cause expansion of regions of the CNS skeletal system that are able to grow such as the cranial vault so that large head size is a frequent accompaniment to hydrocephalus that is caused by this mechanism. Hydrocephalic disorders that are characterised by negative pressure filling mechanism often have a skeletal anatomical abnormality that causes reduced CNS compliance and adversely affect neural development. This is often in the form of obstruction to CSF flow around the base of the brain that then leads to vault expansion by means of high pressure pulsation and ventricle enlargement by means of low pressure pulsation. In health pressure pulsatility does not lead to enduring changes in water distribution within the CNS compartments but it assists physiological water balance. PMID:27515195

  14. [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

    Мальформация Киари характеризуется вклинением миндалин мозжечка в большое затылочное отверстие, что приводит к нарушению циркуляции ликвора через краниовертебральный переход. Адекватным методом для выявления этих нарушений являются ортостатические нагрузки, которые приводят к перемещению ликвора через краниовертебральный переход. Возникающие при этом изменения внутричерепного давления оказывают влияние на церебровенозную ортостатическую реактивность (ЦВОР), которая оценивается неинвазивно при мальформации Киари. Материал и методы. Исследование проведено у 35 больных с мальформацией Киари (Киари I — 26 больных, Киари II — 9) в возрасте от 4 до 58 лет. Среди обследованных больных у 4 была выявлена гидроцефалия, у 6 — сирингомиелия. Методом транскраниальной допплерографии регистрировали венозный кровоток в прямом синусе мозга при изменении положения тела на ортостоле от +90° до –30°. Результаты. У больных с мальформацией Киари ЦВОР существенно отличается от нормы (более чем в 90% случаев) как ее увеличением (иногда в 5—6 раз по сравнению с верхней границей нормы — значительная гиперреактивность), так и полным отсутствием каких-либо изменений при ортостатической нагрузке (ареактивность). У больных c мальформацией Киари до хирургического лечения ЦВОР чаще всего характеризуется ареактивностью, а также умеренной или значительной гиперреактивностью. После хирургического лечения (декомпрессия большого затылочного отверстия) у больных с мальформацией Киари отмечается существенная нормализация краниовертебральных объемных соотношений, а ЦВОР чаще всего характеризуется нормореактивностью (63%), реже — умеренной гиперреактивностью. Скорость венозного кровотока в прямом синусе мозга при мальформации Киари до операции бывает повышена, а после хирургического лечения нормализуется. Выводы. Выявлена высокая частота нарушений ЦВОР (более 90% случаев) у больных с мальформацией Киари. После хирургического лечения этих больных больше чем в половине наблюдений (63%) отмечается полная нормализация ЦВОР.

  15. [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

    Частота аномалии Киари (АК) в популяции составляет от 3 до 8 на 100 000 населения. В 62—80% наблюдений она сопровождается развитием сирингомиелии (СМ) на разных уровнях. Клиническая картина у этих пациентов складывается из проявлений АК и СМ, однако нередко на первый план выходят симптомы СМ, что создает определенные трудности в диагностике патологии и определении оптимальных методов лечения. Цель исследования — уточнить показания к хирургическому лечению СМ, ассоциированной с АК, определить оптимальный объем операции и критерии оценки ее результатов на основании собственного опыта хирургических вмешательств. Материал и методы. За период с 2011г. по февраль 2015 г. проведено обследование 225 пациентов с сочетанием СМ и АК 1-го типа, из них прооперированы 125 человек. Средний возраст оперированных составил 56±8 лет, средний срок от появления первых признаков заболевания до операции — 75±82 мес. Все операции выполнены одним хирургом. Операции проводились в положении пациента полусидя (89,6%) и лежа на животе (10,4%), заключались в экономной субокципитальной краниоэктомии, резекции дужки СI позвонка, восстановлении ликвородинамики по задней поверхности мозжечка, пластике твердой мозговой оболочки (ТМО) в области краниовертебрального перехода. Результаты. При ревизии арахноидальной оболочки большой затылочной цистерны после вскрытия ТМО у 78 (62,4%) больных арахнопатия отсутствовала (0-й тип, по Klekamp). Арахнопатия 1-го типа по Klekamp выявлена у 31 (24,8%) пациента, арахнопатия 2-го типа — у 16 (12,8%). Через 1 год после операции произведена оценка состояния 109 (88%) пациентов. У 61 (56%) пациента отмечен частичный или полный регресс предоперационной неврологической симптоматики, у 44 (40%) — заболевание перестало прогрессировать. У 4 (3,7%) пациентов заболевание обострилось. За время наблюдения рецидива нарушений ликвородинамики на краниовертебральном уровне не выявлено. Ранние послеоперационные осложнения развились у 4 (3,2%) пациентов: у 1 (0,8%) — раневая ликворея, у 1 (0,8%) — острая эпидуральная гематома, у 2 (1,6%) — асептический менингит. Преходящие ухудшения состояния (усиление головной боли, метеочувствительность) были выявлены у 11 (8,9%) пациентов. К концу 1-го месяца после операции данная симптоматика регрессировала. Летальных исходов не было. Выводы. Показанием к операции у больных с сочетанием АК и СМ служит наличие неврологической симптоматики, связанной с СМ, и ее прогрессирование, а также головная боль, обусловленная вклинением миндаликов мозжечка и существенно нарушающая качество жизни пациента. Основными критериями оценки эффективности проведенного лечения признаются стабилизация клинических симптомов и/или улучшение состояния больного. Субокципитальная краниоэктомия с последующей пластикой ТМО и восстановлением ликвородинамики в краниовертебральной области является эффективным методом лечения СМ, ассоциированной с АК 1-го типа.

  16. 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.

  17. 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. PMID:23771468

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

    ERIC Educational Resources Information Center

    Thelen, Esther; Adolph, Karen E.

    1992-01-01

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

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

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

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

  20. Communicating bronchopulmonary pancreatic foregut malformation.

    PubMed

    Rahman, G F; Bhardwaj, N; Suster, B; Arliss, J J; Connery, C P

    1999-12-01

    Bronchopulmonary foregut malformations include intralobar and extralobar pulmonary sequestrations, bronchogenic cysts, and communicating bronchopulmonary foregut malformations (CBPFM). These malformations, formes frustes, originate as developmental abnormalities of ventral foregut budding of the tracheobronchial tree or the gastrointestinal tract. The communication's patency with the parent viscus determines if a contained malformation occurs, or if an abnormal communication persists as a CBPFM. This case demonstrates a unique example of a CBPFM in which the main pancreatic duct communicated with pulmonary parenchyma through a retroperitoneal fistula.

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

    SciTech Connect

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

    1989-11-01

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

  2. 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.

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

    NASA Astrophysics Data System (ADS)

    Sui, Liansheng; Gao, Bo

    2013-06-01

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

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

    PubMed Central

    Soyer, Vural; Ara, Cengiz; Yaylak, Faik; Sarıcı, Barış; Ozsoy, Mustafa; Koç, Okay; Yılmaz, Sezai

    2015-01-01

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

  5. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

  6. Arteriovenous Malformation Management

    SciTech Connect

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

    1996-11-15

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

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

    PubMed Central

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

    2007-01-01

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

  8. Arnold's neuralgia caused by solitary fibrous tumor. Case report.

    PubMed

    Gaetani, P; Di Ieva, A; Di Rocco, M G; Aimar, E; Debernardi, A; Tancioni, F; Rodriguez y Baena, R

    2004-03-01

    Solitary fibrous tumor (SFT) is a mesenchymal tumor which has been identified in a wide variety of localizations, including soft tissues, peritoneum, retroperitoneum, mediastinum, upper respiratory tract, nasopharyngeal sinuses, periosteum and extremities, orbit, major body cavities, intraspinal and intracranial localizations. The authors describe a case of SFT found in the neck of a young patient suffering from Arnold's neuralgia. After surgery, diagnosis of SFT was based on characteristic histopathological findings, especially on immunohistochemical positive staining for CD34 antigen. It has been described also the characteristic patterns making this diagnose sure, focusing the point that cure is possible with complete excision of the lesion.

  9. 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

  10. Graphical evolution of the arnold web: from order to chaos

    PubMed

    Froeschle; Guzzo; Lega

    2000-09-22

    We represent graphically the evolution of the set of resonances of a quasi-integrable dynamical system, the so-called Arnold web, whose structure is crucial for the stability properties of the system. The basis of our representation is the use of an original numerical method, whose definition is directly related to the dynamics of orbits, and the careful choice of a model system. We also show the transition from the Nekhoroshev stability regime to the Chirikov diffusive one, which is a generic nontrivial phenomenon occurring in many physical processes, such as slow chaotic transport in the asteroid belt and beam-beam interaction.

  11. Untreated brain arteriovenous malformation

    PubMed Central

    Al-Shahi Salman, Rustam; McCulloch, Charles E.; Stapf, Christian; Young, William L.

    2014-01-01

    Objective: To identify risk factors for intracranial hemorrhage in the natural history course of brain arteriovenous malformations (AVMs) using individual patient data meta-analysis of 4 existing cohorts. Methods: We harmonized data from Kaiser Permanente of Northern California (n = 856), University of California San Francisco (n = 787), Columbia University (n = 672), and the Scottish Intracranial Vascular Malformation Study (n = 210). We censored patients at first treatment, death, last visit, or 10-year follow-up, and performed stratified Cox regression analysis of time-to-hemorrhage after evaluating hemorrhagic presentation, sex, age at diagnosis, deep venous drainage, and AVM size as predictors. Multiple imputation was performed to assess impact of missing data. Results: A total of 141 hemorrhage events occurred during 6,074 patient-years of follow-up (annual rate of 2.3%, 95% confidence interval [CI] 2.0%–2.7%), higher for ruptured (4.8%, 3.9%–5.9%) than unruptured (1.3%, 1.0%–1.7%) AVMs at presentation. Hemorrhagic presentation (hazard ratio 3.86, 95% CI 2.42–6.14) and increasing age (1.34 per decade, 1.17–1.53) independently predicted hemorrhage and remained significant predictors in the imputed dataset. Female sex (1.49, 95% CI 0.96–2.30) and exclusively deep venous drainage (1.60, 0.95–2.68, p = 0.02 in imputed dataset) may be additional predictors. AVM size was not associated with intracerebral hemorrhage in multivariable models (p > 0.5). Conclusion: This large, individual patient data meta-analysis identified hemorrhagic presentation and increasing age as independent predictors of hemorrhage during follow-up. Additional AVM cohort data may further improve precision of estimates, identify new risk factors, and allow validation of prediction models. PMID:25015366

  12. Newborn intraabdominal cystic lymphatic malformations.

    PubMed

    Lin, J I; Fisher, J; Caty, M G

    2000-08-01

    Cystic lymphatic malformations are rare causes of abdominal masses in the newborn. Also known as mesenteric, omental, or retroperitoneal cysts, they can present in a variety of ways including, intestinal obstruction, volvulus, nonspecific abdominal pain, intracystic hemorrhage, or as an asymptomatic abdominal mass. Abdominal ultrasound scan provides a definitive diagnosis in most suspected cases. Complete resection is possible in most patients except those with extensive retroperitoneal involvement. Recurrence is unusual when complete resection is accomplished. Because most case series with complete data suggest that these entities are lymphatic malformations, the authors suggest the more specific term, cystic lymphatic malformations, be used to describe these lesions.

  13. The Presence of a Large Chiari Network in a Patient with Atrial Fibrillation and Stroke

    PubMed Central

    Schwimmer-Okike, Nneka; Niebuhr, Johannes; Schramek, Grit Gesine Ruth; Frantz, Stefan

    2016-01-01

    The Chiari network is an embryological remnant found in the right atrium, mostly without any significant pathophysiological consequences. However, several cardiac associations are reported in the literature including supraventricular tachyarrhythmias. We present a case of a 96-year-old body donor with a stroke episode and intermittent atrial fibrillations. The dissection of the heart revealed the presence of an immense Chiari network with a large central thrombus. The role of a Chiari network in the pathogenesis of stroke and pulmonary embolism is discussed. PMID:27547469

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

    SciTech Connect

    Copelan, Alexander; Remer, Erick M. Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

    2015-02-15

    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.

  15. Budd-Chiari syndrome: an update on imaging features.

    PubMed

    Faraoun, Sid Ahmed; Boudjella, Mohamed El Amine; Debzi, Nabil; Benidir, Naima; Afredj, Nawel; Guerrache, Youcef; Bentabak, Kamel; Soyer, Philippe; Bendib, Salah Eddine

    2016-01-01

    Budd-Chiari syndrome (BCS) is a rare cause of portal hypertension and liver failure. This condition is characterized by an impaired hepatic venous drainage. The diagnosis of BCS is based on imaging, which helps initiate treatment. Imaging findings can be categorized into direct and indirect signs. Direct signs are the hallmarks of BCS and consist of visualization of obstructive lesions of the hepatic veins or the upper portion of the inferior vena cava. Indirect signs, which are secondary to venous obstruction, correspond to intra- and extrahepatic collateral circulation, perfusion abnormalities, dysmorphy and signs of portal hypertension. PMID:27317208

  16. 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

  17. 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.

  18. Chaotic and Arnold stripes in weakly chaotic Hamiltonian systems.

    PubMed

    Custódio, M S; Manchein, C; Beims, M W

    2012-06-01

    The dynamics in weakly chaotic Hamiltonian systems strongly depends on initial conditions (ICs) and little can be affirmed about generic behaviors. Using two distinct Hamiltonian systems, namely one particle in an open rectangular billiard and four particles globally coupled on a discrete lattice, we show that in these models, the transition from integrable motion to weak chaos emerges via chaotic stripes as the nonlinear parameter is increased. The stripes represent intervals of initial conditions which generate chaotic trajectories and increase with the nonlinear parameter of the system. In the billiard case, the initial conditions are the injection angles. For higher-dimensional systems and small nonlinearities, the chaotic stripes are the initial condition inside which Arnold diffusion occurs.

  19. "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.

  20. 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.

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

    PubMed

    Curtis, Scott

    2011-09-01

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

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

    PubMed

    Harris, Ben

    2011-08-01

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

  3. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

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

  4. 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.

  5. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  6. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... All Close All Description Dandy-Walker malformation affects brain development, primarily development of the cerebellum , which is the ... Walker malformation , signs and symptoms caused by abnormal brain development are present at birth or develop within the ...

  7. Budd-Chiari syndrome: current perspectives and controversies.

    PubMed

    Liu, L; Qi, X-S; Zhao, Y; Chen, H; Meng, X-C; Han, G-H

    2016-07-01

    Budd-Chiari syndrome (BCS) is a rare disorder caused by hepatic venous outflow obstruction with a wide spectrum of etiologies. Clinical manifestations are so heterogeneous that the diagnosis should be considered in any patients with acute or chronic liver disease. Therapeutic modalities for BCS have improved dramatically during the last few years. The concept of a step-wise treatment strategy has been established, including anticoagulation, thrombolysis, percutaneous recanalization, transjugular intrahepatic portosystemic shunt, surgery and liver transplantation. However, this strategy is primarily based on experts' opinions and retrospective case series, rather than prospective randomized trials. Furthermore, an earlier use of TIPS has been proposed in selected cases because of a relatively high mortality from BCS patients who underwent medical therapy alone. Herein, we review the advances in the classification, etiology, clinical presentation, diagnosis and treatment of BCS.

  8. Redefining Budd-Chiari syndrome: A systematic review

    PubMed Central

    Shin, Naomi; Kim, Young H; Xu, Hao; Shi, Hai-Bin; Zhang, Qing-Qiao; Colon Pons, Jean Paul; Kim, Ducksoo; Xu, Yi; Wu, Fei-Yun; Han, Samuel; Lee, Byung-Boong; Li, Lin-Sun

    2016-01-01

    AIM: To re-examine whether hepatic vein thrombosis (HVT) (classical Budd-Chiari syndrome) and hepatic vena cava-Budd Chiari syndrome (HVC-BCS) are the same disorder. METHODS: A systematic review of observational studies conducted in adult subjects with primary BCS, hepatic vein outflow tract obstruction, membranous obstruction of the inferior vena cava (IVC), obliterative hepatocavopathy, or HVT during the period of January 2000 until February 2015 was conducted using the following databases: Cochrane Library, CINAHL, MEDLINE, PubMed and Scopus. RESULTS: Of 1299 articles identified, 26 were included in this study. Classical BCS is more common in women with a pure hepatic vein obstruction (49%-74%). HVC-BCS is more common in men with the obstruction often located in both the inferior vena cava and hepatic veins (14%-84%). Classical BCS presents with acute abdominal pain, ascites, and hepatomegaly. HVC-BCS presents with chronic abdominal pain and abdominal wall varices. Myeloproliferative neoplasms (MPN) are the most common etiology of classical BCS (16%-62%) with the JAK2V617-F mutation found in 26%-52%. In HVC-BCS, MPN are found in 4%-5%, and the JAK2V617-F mutation in 2%-5%. Classical BCS responds well to medical management alone and 1st line management of HVC-BCS involves percutaneous recanalization, with few managed with medical management alone. CONCLUSION: Systematic review of recent data suggests that classical BCS and HVC-BCS may be two clinically different disorders that involve the disruption of hepatic venous outflow. PMID:27326316

  9. Congenital malformations of the orbit.

    PubMed

    Gujar, Sachin K; Gandhi, Dheeraj

    2011-08-01

    This article discusses the embryologic development of the eye and orbital structures. Among the defects presented are anophthalmia and microphthalmia, coloboma, persistent hyperplastic primary vitreous, Coats disease, vascular malformations, encephalocele and nasolacrimal mucocele. Clinical and imaging features of the diseases are presented, along with radiographic images.

  10. Arteriovenous malformation of the uterus.

    PubMed

    Dodia, Nazera; George, Suku

    2015-09-17

    We present the case of a 54-year-old woman with intermittent right-sided abdominal pain. Ultrasound scans showed an unusual vascular appearance of the uterus with a thinned endometrium. Contrast CT led to a strong suspicion of an arteriovenous malformation of the uterus. The patient was successfully treated with a hysterectomy with salpingo-oophorectomy.

  11. Arteriovenous malformations in Cowden syndrome.

    PubMed

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

    2005-08-01

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

  12. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  13. 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.

  14. Arteriovenous Malformation of the Oral Cavity

    PubMed Central

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

    2014-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070

  15. Intraneural Venous Malformations of the Median Nerve

    PubMed Central

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation. PMID:27462571

  16. Budd-Chiari syndrome as an initial presentation of hepatocellular carcinoma: a case report.

    PubMed

    Bălăceanu, Lavinia Alice; Diaconu, Camelia Cristina; Aron, Gheorghiţa

    2014-06-01

    We report the case of a 84-year-old admitted with symptoms of congestive heart failure. Ultrasonography revealed a hyperechoic nodule in the left lobe of the liver, with a peripheral hypoechoic rim, multiple irregular hypoechoic nodules in both hepatic lobes, portal vein, inferior vena cava, and right atrium thrombosis. On ultrasonographic and alpha-fetoprotein criteria the case was interpreted as hepatocellular carcinoma with Budd-Chiari syndrome. The particularity of the case is the initial presentation of the hepatocellular carcinoma as Budd-Chiari syndrome. The inferior vena cava and right atrium thrombosis, as a cause of secondary Budd-Chiari syndrome in a patient with hepatocellular carcinoma, has been rarely reported.

  17. Drug-Induced (Thalidomide) Malformations

    PubMed Central

    Ing, George M.; Olman, C. L.; Oyd, John R.

    1962-01-01

    Phocomelia (flipper-like limbs) has long been recognized as a rare malformation. Numerous cases of phocomelia and other congenital malformations have recently been reported in the United Kingdom, Australia, Europe and Canada in which the common factor appears to have been the administration of the hypnotic compound thalidomide during early pregnancy. Two additional cases of infants born with phocomelia, amelia and alimentary abnormalities are presented. In both of these cases the administration of thalidomide was initiated early during pregnancy (five to eight weeks after the last normal menstrual period) and maintained for several weeks. Thalidomide (alpha-phthalimido glutarimide) is related chemically to other glutarimides currently in clinical use. The possibility that these compounds and/or their metabolites may induce teratogenic effects warrants consideration. Emphasis is added to the view that caution should be exercised when prescribing new drugs. ImagesFig. 1Fig. 2 PMID:20327332

  18. Prenatal diagnosis of cloacal malformation.

    PubMed

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

    2016-04-01

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

  19. The genetics of cerebellar malformations.

    PubMed

    Aldinger, Kimberly A; Doherty, Dan

    2016-10-01

    The cerebellum has long been recognized for its role in motor co-ordination, but it is also increasingly appreciated for its role in complex cognitive behavior. Historically, the cerebellum has been overwhelmingly understudied compared to the neocortex in both humans and model organisms. However, this tide is changing as advances in neuroimaging, neuropathology, and neurogenetics have led to clinical classification and gene identification for numerous developmental disorders that impact cerebellar structure and function associated with significant overall neurodevelopmental dysfunction. Given the broad range in prognosis and associated medical and neurodevelopmental concerns accompanying cerebellar malformations, a working knowledge of these disorders and their causes is critical for obstetricians, perinatologists, and neonatologists. Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods. PMID:27160001

  20. 75 FR 6737 - FPL Energy Duane Arnold, LLC; Notice of Availability of the Draft Supplement 42 to the Generic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-10

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

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

    PubMed Central

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

    2015-01-01

    Sarcoidosis is a multisystem granulomatous disease of unknown origin. All organs may be affected. Liver involvement is common but it is rarely symptomatic. Only a few cases of Budd-Chiari syndrome (BCS) secondary to a hepatic sarcoidosis have been described so far. We describe a case of multisystemic sarcoidosis presenting with BCS. A 42-year old female was referred to our department for chronic and anicteric cholestasis. Laboratory and imaging investigations disclosed features of chronic BCS associated with multisystemic sarcoidosis. The positive diagnosis was based on microscopic features, which showed hepatic, gastric and cutaneous non-caseating granulomas. Screening for an underlying thrombophilic disorder was negative. The diagnosis of BCS complicating hepatic sarcoidosis was the most likely. She was put on corticosteroids and anticoagulation therapy. To our knowledge, few cases of sarcoidosis-related BCS have been reported in the literature. In addition to being an uncommon presentation of sarcoidosis, this case illustrates the importance of recognizing an unusual cause of BCS and its therapeutic difficulties. PMID:26900444

  2. 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.

  3. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  4. Spontaneous ileal perforation complicating low anorectal malformation.

    PubMed

    Olatunji, TiJesuni; Igoche, Matthias; Anyanwu, Pascal; Ameh, Emmanuel A

    2015-01-01

    Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication. PMID:26168757

  5. Acute neonatal presentation of a lymphatic malformation

    PubMed Central

    Tang, Chee Yan; Wijnen, M; Sambeeck van, S J; Halbertsma, F J J

    2013-01-01

    Oropharyngeal lymphatic malformations usually present with a mass either at birth or in the first 2 years of life. Rarely, lymphatic malformations present with extremely progressive respiratory problems shortly after birth, and usually occur in cases which have remained undetected in the absence of antenatal ultrasound. We report the case of a newborn that required tracheostomy and gastrostomy due to a rapidly expansive lymphatic malformation. MRI showed multilocular microcystic lymphatic malformation. Intralesional bleomycin injections proved to be successful in this patient. A short review of epidemiology, clinical manifestation and treatment is given. PMID:23907961

  6. Classification schemes for arteriovenous malformations.

    PubMed

    Davies, Jason M; Kim, Helen; Young, William L; Lawton, Michael T

    2012-01-01

    The wide variety of arteriovenous malformation (AVM) anatomy, size, location, and clinical presentation makes patient selection for surgery a difficult process. Neurosurgeons have identified key factors that determine the risks of surgery and then devised classification schemes that integrate these factors, predict surgical results, and help select patients for surgery. These classification schemes have value because they transform complex decisions into simpler algorithms. In this review, the important grading schemes that have contributed to management of patients with brain AVMs are described, and our current approach to patient selection is outlined.

  7. Scalp arteriovenous malformations in young

    PubMed Central

    Gupta, Rakesh; Kayal, Akshat

    2014-01-01

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

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

    SciTech Connect

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

    2011-02-15

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

  9. 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…

  10. 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…

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

    ERIC Educational Resources Information Center

    Koelsch, William A.

    2008-01-01

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

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

    ERIC Educational Resources Information Center

    Volkov, Boris B.

    2011-01-01

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

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

    ERIC Educational Resources Information Center

    Banks, Alan

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

  14. Endovascular treatment of arteriovenous malformations.

    PubMed

    Diaz, Orlando; Scranton, Robert

    2016-01-01

    Cerebral arteriovenous malformations (AVM) are tangles of blood vessels that permit shunting of blood from the arterial to venous phase without intervening capillaries. The malformation's arterialization of a low-pressure system creates a risk of rupture that is substantially higher when associated with an aneurysm. The annual hemorrhage rate is 2.2% per year as reported in the randomized trial of unruptured brain AVMs (ARUBA; rupture risk is increased after the first event. Ruptured AVMs have a 10% mortality rate and 20%-30% morbidity rate. The treatment of choice for AVMs is microvascular resection with or without preoperative embolization. Surgical risk can be stratified based on the Spetzler-Martin grading system. Liquid embolic material and coils may be used for the treatment of AVM associated aneurysms, especially in the setting of acute rupture as a bridge to delayed surgical resection. There is some limited reported success in total endovascular treatment of AVMs, but this is not considered standard therapy at this time. Stereotactic radiosurgery (SRS) has been recently described but mainly limited to AMVs deemed too risky to approach in an open fashion and limited to 2.5cm-3cm in size. The delayed protection from hemorrhage (approximately 2-3 years) and high marginal failure/recurrence rate are the greatest concerns. PMID:27430471

  15. [Neck appendages--branchiogenic surplus malformations (choristoma)].

    PubMed

    Stieler, W; Senff, H; Mensing, H

    1988-09-01

    Congenital cartilaginous rests of the neck are branchiogenic surplus malformations that are very rare. They arise from epithelial growth in a false place and frequently contain elastic cartilage. Congenital cartilaginous rests of the neck are only rarely associated with other congenital malformations.

  16. Cerebral dysplastic vascular malformation: a developmental arrest

    SciTech Connect

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

    1983-08-01

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

  17. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  18. New insights into craniofacial malformations

    PubMed Central

    Twigg, Stephen R.F.; Wilkie, Andrew O.M.

    2015-01-01

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

  19. Split cord malformations: A two years experience at AIIMS

    PubMed Central

    Borkar, Sachin A.; Mahapatra, A. K.

    2012-01-01

    Background: Over a 2-year period, 2008-2009, a total of 53 cases of split cord malformation (SCM) were treated at the All India Institute of Medical Sciences (AIIMS). This study is a retrospective analysis of clinical features, radiological findings, and surgical outcome of these patients. Materials and Methods: During this period, 53 cases of SCM were treated at AIIMS. They constitute around 27% of all spinal dysraphism surgeries performed at the department of Neurosurgery, AIIMS; as 200 cases of spinal dysraphism were operated during the study period. The data was obtained from case files, operation notes, discharge summaries, and follow-up files. Observations: There were 30 cases of SCM type I and 23 cases of type II SCM. Seven patients were adult above 18 years of age. Except 7 patients, remaining 46 were symptomatic. Bony deformity of spine was recorded in 24 patients; of them, 19 had scoliosis and 4 had kyphosis. Deformity of foot was recorded in 10 patients. Thirteen patients had hypertrichosis, while four had dermal sinus. Magnetic resonance imaging (MRI) was performed in all patients. MRI revealed syringomyelia in 14 patients; however, only one patient had associated Chiari malformation. Six patients had meningomyelocele. Intra-operative; thick filum was noticed in 10 cases and in another 9 cases, there was filum lipoma. Dermoid was encountered in 4 patients, one patient had epidermoid tumor. Site of split was thoracic in 22, followed by lumbar region in 21 patients. Only 3 patients had split in cervical spinal cord. Seven patients had two separate splits at two different levels. Two patients had posteriorly located bony spur. All patients underwent surgery. Seven patients, those who had no neurological deficits pre-op, remained unchanged post-op. Amongst the 46 patients who had preoperative neurological deficits, eight had neurological deterioration post-op; five had deterioration in motor power and three had urinary problem. Five of these patients had

  20. Aetiological factors of Budd-Chiari syndrome in Algeria

    PubMed Central

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

    2015-01-01

    AIM: To study the clinical presentation of Budd-Chiari syndrome (BCS) and identify the aetiologies of this disease in Algeria. METHODS: Patients with BCS, hospitalised in our unit from January 2004 until June 2010 were included and the aetiological factors were assessed. Patients presenting a BCS in the setting of advanced-stage cirrhosis or a liver transplantation were excluded from the study. The diagnosis was established when an obstruction of hepatic venous outflow (thrombosis, stenosis or compression) was demonstrated. We diagnosed myeloproliferative disease (MPD) by bone marrow biopsy and V617F JAK2 mutation. Anti-phospholipid syndrome (APLS) was detected by the presence of anticardiolipin antibodies, anti-β2 glycoprotein antibodies and Lupus anticoagulant. We also detected paroxysmal nocturnal haemoglobinuria (PNH) by flow cytometry. Celiac disease and Behçet disease were systematically investigated in our patients. Hereditary anticoagulant protein deficiencies were also assessed. We tested our patients for the G20210A mutation at Beaujon Hospital. Imaging procedures were performed to determine a local cause of BCS, such as a hydatid cyst or a liver tumour. RESULTS: One hundred and fifteen patients were included. Mean follow up: 32.12 mo. Mean age: 34.41 years, M/F = 0.64. Chronic presentation was frequent: 63.5%. The revealing symptoms for the BCS were ascites (74.8%) and abdominal pain (42.6%). The most common site of thrombosis was the hepatic veins (72.2%). Involvement of the inferior vena cava alone was observed in 3 patients. According to the radiological investigations, BCS was primary in 94.7% of the cases (n = 109) and secondary in 5.2% (n = 6). An aetiology was identified in 77.4% of the patients (n = 89); it was multifactorial in 27% (n = 31). The predominant aetiology of BCS in our patients was a myeloproliferative disease, observed in 34.6% of cases. APLS was found in 21.7% and celiac disease in 11.4%. Other acquired conditions were: PNH (n

  1. A gene map of congenital malformations.

    PubMed Central

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

    1994-01-01

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

  2. Computed tomography of congenital brain malformations

    SciTech Connect

    Sarwar, M.

    1984-01-01

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

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

    PubMed

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

    1988-08-01

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

  4. [Central nervous system malformations: neurosurgery correlates].

    PubMed

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-01

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  5. [Budd-Chiari syndrome: a case report and review of the literature].

    PubMed

    Ouhadi, L; Creemers, E; Honoré, P; Delwaide, J; Marchetta, S; Defraigne, J O

    2015-01-01

    We report the history of a 20-year-old woman admitted for thrombosis of the sus-hepatic veins and of the inferior vena cava (IVC) with extension of the thrombus into the right atrium. The etiological research was negative and a diagnosis of idiopathic Budd-Chiari syndrome was retained. In view of the absence of vein repermeabilisation under adequate anticoagulant therapy, a venous thrombectomiy was performed under cardiopulmonary bypass, which improved the hepatic venous drainage. Budd-Chiari syndrome is a very serious disorder. Its treatment implies a step by step procedure. An effective anticoagulation must first be established. The complications of portal hypertension then require attention. For a symptomatic patient, one should assess the possibility of restoring the venous permeability, improving the hepatic drainage and decompressing the liver by radiological interventional or surgical procedures. Finally, an hepatic transplantation should be considered in case of treatment ineffectiveness, of fulminant hepatic failure, or of an evolution towards cirrhosis. PMID:26376565

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2010-01-01

    This case report describes a patient with thromboemboli trapped in the Chiari network within the right side of the heart and resistant to thrombolysis. The right atrial masses were completely removed under cardiopulmonary bypass. Histological evaluation confirmed a mixed thromboemboli, with thrombus structures showing signs of organisation and surrounded by a fibrous capsule. The plasma level of the plasminogen activator inhibitor type-1 (PAI-1) was 50% higher than the normal upper limit. In this presented case, the Chiari network displayed a protective function but the expansion and organisation of the thromboembolus found there made it resistant to lytic treatment. Another important factor that could have influenced the resistance to thrombolysis was the high level of PAI-1. PMID:22791494

  8. Accidental Entrapment of Electrical Mapping Catheter by Chiari's Network in Right Atrium during Catheter Ablation Procedure

    PubMed Central

    Sakamoto, Atsushi; Urushida, Tsuyoshi; Sakakibara, Tomoaki; Sano, Makoto; Suwa, Kenichiro; Saitoh, Takeji; Saotome, Masao; Katoh, Hideki; Satoh, Hiroshi; Hayashi, Hideharu

    2016-01-01

    A 78-year-old male was admitted to our hospital due to frequent palpitation. His electrocardiogram (ECG) presented regular narrow QRS tachycardia with 170 bpm, and catheter ablation was planned. During electroanatomical mapping of the right atrium (RA) with a multiloop mapping catheter, the catheter head was entrapped nearby the ostium of inferior vena cava. Rotation and traction of the catheter failed to detach the catheter head from the RA wall. Exfoliation of connective tissue twined around catheter tip by forceps, which were designed for endomyocardial biopsy, succeeded to retract and remove the catheter. Postprocedural echocardiography and pathologic examination proved the existence of Chiari's network. The handling of complex catheters in the RA has a potential risk of entrapment with Chiari's network. PMID:27366332

  9. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

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

  10. Newborn craniofacial malformations: orofacial clefting and craniosynostosis.

    PubMed

    Hamm, J Austin; Robin, Nathaniel H

    2015-06-01

    Craniofacial malformations are among the most common birth defects. Although most cases of orofacial clefting and craniosynostosis are isolated and sporadic, these abnormalities are associated with a wide range of genetic syndromes, and making the appropriate diagnosis can guide management and counseling. Patients with craniofacial malformation are best cared for in a multidisciplinary clinic that can coordinate the care delivered by a diverse team of providers.

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

    PubMed

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

    2013-01-01

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

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

    PubMed Central

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

    2011-01-01

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

  13. Minimal D = 7 supergravity and the supersymmetry of Arnold-Beltrami flux branes

    NASA Astrophysics Data System (ADS)

    Fré, P.; Grassi, P. A.; Ravera, L.; Trigiante, M.

    2016-06-01

    In this paper we study some properties of the newly found Arnold-Beltrami flux-brane solutions to the minimal D = 7 supergravity. To this end we first single out the appropriate Free Differential Algebra containing both a gauge 3-form B [3] and a gauge 2-form B [2]: then we present the complete rheonomic parametrization of all the generalized curvatures. This allows us to identify two-brane configurations with Arnold-Beltrami fluxes in the transverse space with exact solutions of supergravity and to analyze the Killing spinor equation in their background. We find that there is no preserved supersymmetry if there are no additional translational Killing vectors. Guided by this principle we explicitly construct Arnold-Beltrami flux two-branes that preserve 0, 1/8 and 1/4 of the original supersymmetry. Two-branes without fluxes are instead BPS states and preserve 1/2 supersymmetry. For each two-brane solution we carefully study its discrete symmetry that is always given by some appropriate crystallographic group Γ. Such symmetry groups Γ are transmitted to the D = 3 gauge theories on the brane world-volume that would occur in the gauge/gravity correspondence. Furthermore we illustrate the intriguing relation between gauge fluxes in two-brane solutions and hyperinstantons in D = 4 topological sigma-models.

  14. Virus-induced congenital malformations in cattle.

    PubMed

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

    2015-09-24

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

  15. [Diagnosis and management of Mondini malformation].

    PubMed

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  16. Extrapyramidal dysfunction with cerebral arteriovenous malformations 1

    PubMed Central

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

    1974-01-01

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

  17. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

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

    2013-06-15

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

  18. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

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

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

    EPA Science Inventory

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

  20. Fulminant Budd-Chiari syndrome associated with polycythemia rubra vera and factor V Leiden mutation.

    PubMed

    Akyildiz, Murat; Karasu, Zeki; Dheir, Hamad; Osmanoglu, Necla; Akay, Sinan; Ilter, Tankut

    2006-01-01

    Budd-Chiari syndrome (BCS) is a severe disorder characterized by hepatic venous outflow obstruction. Hypercoagulable states are the major etiological factors for the development of BCS and can be identified in about 75% of patients. Multiple etiological factors can be found in the same patient. Hematologic abnormalities, especially myeloproliferative disorders, are the most common causes of BCS. Furthermore, the prevalence of factor V Leiden mutation is three times greater in patients with BCS. Although the clinical course tends to be chronic, BCS may, on rare occasions, cause acute liver failure. Herein, we report a patient who had factor V Leiden mutation and polycythemia rubra vera, presented as fulminant BCS. PMID:16378893

  1. Budd-Chiari syndrome complicating essential thrombocythemia in an adolescent: favorable outcome of TIPS procedure.

    PubMed

    Tantawy, Azza Abdel-Gawad; Adly, Amira Abdel-Monem; Elhenawy, Yasmine Ibrahim

    2015-09-01

    Budd-Chiari syndrome (BCS) is a liver disorder characterized by hepatic venous outflow obstruction, mainly resulting from thrombosis of the terminal part of the hepatic veins or the inferior vena cava. It causes hepatic congestion, ascites, portal hypertension, and collateral circulation between the obstructed and contiguous patent venous territories. BCS is reported complicating myeloproliferative disorders, as well other prothrombotic events. Essential thrombocythemia is one of the most frequent myeloproliferative disorders that cause BCS, and in some cases, it may be the initial presentation. Many treatment options have been proposed for BCS, routine anticoagulation therapy being recommended as the first therapeutic approach.

  2. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. Genetics Home Reference: cerebral cavernous malformation

    MedlinePlus

    ... R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22. Citation on ... CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous ...

  4. 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.

  5. Virus-induced congenital malformations in cattle.

    PubMed

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

    2015-01-01

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

  6. 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.

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

    PubMed

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

    2014-01-01

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

  8. Budd-Chiari syndrome during nephrotic relapse in a patient with resistance to activated protein C clotting inhibitor.

    PubMed

    Gambaro, G; Patrassi, G; Pittarello, F; Nardellotto, A; Checchetto, S; D'Angelo, A

    1998-10-01

    It has long been known that patients with nephrotic syndrome have a hypercoagulable state, which explains the association between nephrotic syndrome, renal vein thrombosis, and thromboembolism. However, the Budd-Chiari syndrome has never been reported in nephrotic patients. This is the first report of such an association that, most likely, depended on a primary resistance to activated protein C.

  9. Behçet’s disease presenting with Budd–Chiari syndrome and intracardial thrombus: a case report

    PubMed Central

    Kim, Minji Jennifer; Jo, Yong Suk; Kim, Jee Hyun; Kim, Yong-Jin; Kim, Kyung Hwan; Lee, Eun Bong; Song, Yeong Wook; Lee, Eun Young

    2011-01-01

    Budd–Chiari syndrome has been described as a late complication of Behçet’s disease. Although the mortality rate associated with Behçet’s disease is low, it can escalate in the presence of Budd–Chiari syndrome and may be further complicated by intracardial thrombus formation. It is therefore important to detect and initiate management early in the disease course. The imaging modalities of choice should be minimally invasive as certain procedures may aggravate Behçet’s disease by initiating a thrombosis or aggravating an existing one. In Behçet’s disease-induced Budd–Chiari syndrome, cardiac investigation is crucial in the work-up in order to identify any cardiac involvement and determine the etiology of intracardial thrombus. Furthermore, the treatment should ultimately focus on controlling the activity of Behçet’s disease. We report an unusual case of Behçet’s disease presenting with Budd–Chiari syndrome complicated by intracardial thrombus in a young Korean man. PMID:23754909

  10. Entrapment of a Pacing Lead within a Chiari Network: Utility of Intracardiac Echo and a Laser Sheath.

    PubMed

    Aung, Htin; Espinosa, Raul E; Powell, Brian D; McLeod, Christopher J

    2016-06-01

    Although rare, Chiari networks are elaborate embryological remnants that can pose distinct challenges for catheter and pacing lead manipulation within the right atrium. Device entrapment may require open thoracotomy for removal, with significant morbidity. We report an unusual case of pacing lead entanglement within this structure, followed by prompt intracardiac echocardiographic identification and laser sheath removal.

  11. Portasystemic shunting versus liver transplantation for the Budd-Chiari syndrome.

    PubMed Central

    Bismuth, H; Sherlock, D J

    1991-01-01

    Over 12 years, 22 patients with the Budd-Chiari syndrome were treated surgically. Eighteen underwent a mesenterico-caval shunt (MCS); two, a side-to-side portacaval shunt; one, a mesenterico-atrial shunt (MAS); and one, a liver transplantation (OLT). One patient died after operation from the precipitating condition, and two MCS grafts that thrombosed were restored. All 21 surviving patients remain well, free from ascites, and all shunts are patent after a mean follow-up of 5.6 +/- 1 years, five patients with more than 10 years' follow-up. This long-term survival achieved by portasystemic shunts suggests that they have a major role in the treatment of the Budd-Chiari syndrome. The authors prefer the mesenterico-caval shunt using a jugular graft. This ensures a total portasystemic shunt, avoids subhepatic surgery, and reduces the long-term risk of prosthetic graft thrombosis. The MAS was reserved for cases with complete caval thrombosis. Patients with significant degrees of caval compression were satisfactorily decompressed by MCS. In patients not promptly treated, the disease progresses to cirrhosis, and such patients must be evaluated for transplantation similarly to those with other hepatopathies. Images Fig. 1. Fig. 3. Fig. 4. Fig. 5A and B. PMID:1953111

  12. 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.

  13. 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. PMID:27625812

  14. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

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

  15. GI-Associated Hemangiomas and Vascular Malformations

    PubMed Central

    Yoo, Stephen

    2011-01-01

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

  16. [Paraspinal arteriovenous malformations with perimedullary venous drainage].

    PubMed

    Schmidt, C; Lonjon, J; Costalat, V; Menjot De Champfleur, N; Seris, C; Brunel, H; Bourbotte, G; Bouillot, P; Teissier, J-M; Martinat, P; Bonafe, A

    2008-07-01

    Symptoms of chronic myelopathy in cases of paraspinal arteriovenous malformations are most often related to perimedullary venous drainage. Here, we report on three cases of such malformations that have unique epidural venous drainage. These thoracolumbar lesions manifested as isolated back pain (in two cases) and S1 lumboradicular pain (in one case). MRI presented evidence to suggest a diagnosis of these rare conditions, based on signs of vertebral erosion, signal loss (flow void) on T1- and T2-weighted imaging, and partial enhancement after gadolinium injection, with no signs of congestive myelopathy. Spinal angiography confirmed the presence of a paraspinal fistula and, at the same time, allowed treatment by intra-arterial onyx injection.

  17. Occipitoatlantoaxial malformation in an adult goat.

    PubMed

    Seva, Juan I; Gómez, Serafin; Pallarés, Francisco J; Sánchez, Pedro; Bernabé, Antonio

    2008-09-01

    An occipitoatlantoaxial malformation was diagnosed in a 1-year-old Murciano-Granadina goat. At clinical examination, the head and cranial part of the neck were deviated to the right. Clinical signs of spinal cord or brain disease were not observed. At necropsy, morphological abnormalities were seen in the craniovertebral junction and cervical vertebrae, characterized by a firm attachment and incomplete articulation between the occipital bone and the atlas, and scoliosis in the cervical regions. The definitive diagnosis was bilateral asymmetrical occipitoatlantoaxial fusion with rotation of the atlas and atlantoaxial subluxation. To the authors' knowledge, this case report is the second occipitoatlantoaxial malformation described in a goat and the first description in an adult goat.

  18. Malformations of the zygomatic and maxillary regions.

    PubMed

    Xu, Chen; Zhang, Yong; Yang, Yusheng; Liang, Yun

    2013-07-01

    The maxillofacial region develops during 3 to 8 weeks in an embryo. The process involves neural crest cell migration and proliferation as well as facial protrusion jointing and fusion. The maxillofacial region is one of the predilection sites of congenital malformations. We treated a 5-year-old Chinese boy with abnormal development of the left maxillofacial region. We describe in detail the patient's characteristics, diagnosis, and treatment processes and try to explain the possible causes of the disease. PMID:23851833

  19. Malformations of cortical development and neocortical focus.

    PubMed

    Luhmann, Heiko J; Kilb, Werner; Clusmann, Hans

    2014-01-01

    Developmental neocortical malformations resulting from abnormal neurogenesis, disturbances in programmed cell death, or neuronal migration disorders may cause a long-term hyperexcitability. Early generated Cajal-Retzius and subplate neurons play important roles in transient cortical circuits, and structural/functional disorders in early cortical development may induce persistent network disturbances and epileptic disorders. In particular, depolarizing GABAergic responses are important for the regulation of neurodevelopmental events, like neurogenesis or migration, while pathophysiological alterations in chloride homeostasis may cause epileptic activity. Although modern imaging techniques may provide an estimate of the structural lesion, the site and extent of the cortical malformation may not correlate with the epileptogenic zone. The neocortical focus may be surrounded by widespread molecular, structural, and functional disturbances, which are difficult to recognize with imaging technologies. However, modern imaging and electrophysiological techniques enable focused hypotheses of the neocortical epileptogenic zone, thus allowing more specific epilepsy surgery. Focal cortical malformation can be successfully removed with minimal rim, close to or even within eloquent cortex with a promising risk-benefit ratio.

  20. The atrioventricular junctions in Ebstein malformation

    PubMed Central

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

    2000-01-01

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


Keywords: Ebstein's anomaly; atrioventricular node; bundle branch block; Wolff-Parkinson-White syndrome PMID:10722549

  1. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

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

  2. Malformations of cortical development and epilepsy.

    PubMed

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

    2008-01-01

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

  3. Giant Arteriovenous Malformation of the Neck

    PubMed Central

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

    2015-01-01

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

  4. 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.

  5. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

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

  6. Heat conduction in systems with Kolmogorov-Arnold-Moser phase space structure.

    PubMed

    Herrera-González, I F; Pérez-Aguilar, H I; Mendoza-Suárez, A; Tututi, E S

    2012-09-01

    We study heat conduction in a billiard channel formed by two sinusoidal walls and the diffusion of particles in the corresponding channel of infinite length; the latter system has an infinite horizon, i.e., a particle can travel an arbitrary distance without colliding with the rippled walls. For small ripple amplitudes, the dynamics of the heat carriers is regular and analytical results for the temperature profile and heat flux are obtained using an effective potential. The study also proposes a formula for the temperature profile that is valid for any ripple amplitude. When the dynamics is regular, ballistic conductance and ballistic diffusion are present. The Poincaré plots of the associated dynamical system (the infinitely long channel) exhibit the generic transition to chaos as ripple amplitude is increased. When no Kolmogorov-Arnold-Moser (KAM) curves are present to forbid the connection of all chaotic regions, the mean square displacement grows asymptotically with time t as tln(t).

  7. 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.

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

    NASA Astrophysics Data System (ADS)

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

    2015-09-01

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

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

    PubMed

    Herman, E

    2001-12-01

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

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

    SciTech Connect

    Basko, D.M.

    2011-07-15

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

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

    PubMed

    Herman, E

    2001-12-01

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

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

    SciTech Connect

    Not Available

    1986-07-01

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

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

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  14. Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice

    PubMed Central

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

    2008-01-01

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

  15. Occlusive vascular disease associated with cerebral arteriovenous malformations

    SciTech Connect

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

    1984-11-01

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

  16. 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. PMID:27493822

  17. 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

  18. Dandy-Walker malformation in Ellis-van Creveld syndrome.

    PubMed

    Zangwill, K M; Boal, D K; Ladda, R L

    1988-09-01

    We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded. PMID:3223493

  19. Notch receptor expression in human brain arteriovenous malformations.

    PubMed

    Hill-Felberg, Sandra; Wu, Hope Hueizhi; Toms, Steven A; Dehdashti, Amir R

    2015-08-01

    The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that compared to normal brain vascular tissue Notch-3 was dramatically increased in brain arteriovenous malformations. Similarly, Notch 4 labelling was also increased in vascular malformations and was confirmed by western blot analysis. Notch 2 was not detectable in any of the human vessels analysed. Using both immunohistochemistry on microarrays and western blot analysis, we have found that Notch-1 expression was detectable in control vessels, and discovered a significant decrease of Notch 1 expression in vascular malformations. We have demonstrated that Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations. Our findings suggested that Notch 4, and more importantly, Notch 3, may play a role in the development and pathobiology of human arteriovenous malformations.

  20. Opercular malformations: clinical and MRI features in 11 children.

    PubMed

    Rolland, Y; Adamsbaum, C; Sellier, N; Robain, O; Ponsot, G; Kalifa, G

    1995-11-01

    Opercular malformations are rare and complex brain malformations for which only very fragmented neuropathological descriptions have been reported. They are related to an abnormal development of both sylvian fissure and frontoparietal operculum. We report a retrospective clinical and MRI study of 11 patients presenting with opercular malformations. A congenital pseudobulbar syndrome was observed in six cases, various motor disorders in seven cases, mental retardation in six cases and epilepsy in four cases. The purpose of this study is to evaluate the main features of opercular malformations in children and to try to characterise this entity on the basis of its clinical features and MRI pattern. PMID:8577527

  1. Acute iatrogenic Budd-Chiari syndrome following hepatectomy for hepatolithiasis: A report of two cases

    PubMed Central

    Bai, Xue-Li; Chen, Yi-Wen; Zhang, Qi; Ye, Long-Yun; Xu, Yuan-Liang; Wang, Liang; Cao, Chun-Hui; Gao, Shun-Liang; Khoodoruth, Mohamed Adil Shah; Ramjaun, Bibi Zaina; Dong, Ai-Qiang; Liang, Ting-Bo

    2013-01-01

    Budd-Chiari syndrome (BCS) is defined as hepatic venous outflow obstruction at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) and the right atrium, regardless of the cause of obstruction. We present two cases of acute iatrogenic BCS and our clinical management of these cases. The first case was a 43-year-old woman who developed acute BCS following the implantation of an IVC stent for the correction of stenosis in the IVC after hepatectomy for hepatolithiasis. The second case was a 61-year-old woman with complete obstruction of the outflow of hepatic veins during bilateral hepatectomy for hepatolithiasis. Acute iatrogenic BCS should be considered a rare complication following hepatectomy for hepatolithiasis. Awareness of potential hepatic outflow obstructions and timely management are critical to avoid poor outcomes when performing hepatectomy for hepatolithiasis. PMID:24039374

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

    PubMed Central

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

    2015-01-01

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

  3. Intraoperative Transesophageal Echocardiographic Diagnosis of Acute Budd-Chiari Syndrome After Extended Right Hepatectomy.

    PubMed

    Alcaraz, Gabriela; Meineri, Massimiliano; Dattilo, Kathleen; Wąsowicz, Marcin

    2016-07-01

    Budd-Chiari syndrome (BCS) is a congestive hepatopathy caused by hepatic venous outflow obstruction. Torsion of the remnant liver after extended right hepatectomy is a potential cause of acute BCS, and it can lead to acute liver failure or death. We present a case of intraoperative transesophageal echocardiographic (TEE) diagnosis of acute BCS after extended right hepatectomy. TEE allowed timely detection of acute BCS and consequent inferior vena cava obstruction and decreased right atrial filling as the cause of sudden life-threatening hemodynamic collapse unresponsive to intravascular volume therapy and inotropic support. TEE constituted a stepped-up level of monitoring, prompting an immediate surgical reexploration, and resolution of hemodynamic instability. PMID:27166743

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

    PubMed Central

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

    2011-01-01

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

  5. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

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

  6. 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.

  7. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

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

  8. [The newborn with cardiological problems. The dilemma between malformative and non-malformative pathology].

    PubMed

    Distefano, G

    2003-04-01

    Cardiovascular impairment is frequent during the neonatal period and can be expression of malformative or not-malformative pathology. In both conditions the clinical presentation is often dramatic with cyanosis and/or heart failure. The neonatologist has to make differential diagnosis as soon as possible, because cardiac malformations in the neonatal period are usually ductus arteriosus-dependent and can worsen suddenly after its closure. Since colour Doppler-echocardiography is not available in all the neonatal units in order to be helped in the diagnosis, it is very important that neonatologists learn to use the indications obtained with a careful physical examination and with some simple instrumental tests, as chest X-ray, electrocardiogram and blood gas analysis. In this article a review is made of the most frequent heart malformations associated with cyanosis and/or heart failure during the neonatal period (complete transposition of the great arteries, Fallot's tetralogy, tricuspid and pulmonary atresia, aortic coarctation, interventricular septal defect, persistence of ductus arteriosus) and the most common neonatal pathologic conditions simulating congenital heart diseases (persistence of fetal circulation, neonatal transitory myocardial ischemia, hypervolemia, hypoglycemia, hypocalcemia). Some clinical, instrumental and laboratory findings that could be useful for the diagnosis in absence of echocardiography are also reported.

  9. Microlissencephaly: a heterogeneous malformation of cortical development.

    PubMed

    Barkovich, A J; Ferriero, D M; Barr, R M; Gressens, P; Dobyns, W B; Truwit, C L; Evrard, P

    1998-06-01

    We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome. PMID:9706619

  10. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  11. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

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

  12. Magnetic resonance imaging of anorectal malformations.

    PubMed

    Podberesky, Daniel J; Towbin, Alexander J; Eltomey, Mohamed A; Levitt, Marc A

    2013-11-01

    Anorectal malformation (ARM) occurs in approximately 1 in 5000 newborns and is frequently accompanied by anomalies of the genitalia, gynecologic system, urinary tract, spine, and skeletal system. Diagnostic imaging plays a central role in ARM evaluation. Because of the lack of ionizing radiation, excellent intrinsic contrast resolution, multiplanar imaging capabilities, technical advances in hardware, and innovative imaging protocols, magnetic resonance (MR) imaging is increasingly important in assessment of ARM patients in utero, postnatally before definitive surgical correction, and in the postoperative period. This article discusses the role of MR imaging in evaluating ARM patients. PMID:24183526

  13. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

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

  14. Endoscopic assisted cochlear implants in ear malformations.

    PubMed

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

    2015-10-01

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

  15. 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. PMID:24861897

  16. Capillary-venous malformation in the upper limb.

    PubMed

    Uihlein, Lily Changchien; Liang, Marilyn G; Fishman, Steven J; Alomari, Ahmad I; Mulliken, John B

    2015-01-01

    We present a group of patients with regional capillary malformations of the upper limbs and few additional findings other than prominent veins. We believe that this entity is the upper extremity equivalent of capillary-venous malformation of the lower limb and, likewise, belongs at the minor end of the spectrum of vascular disorders with overgrowth. PMID:25557931

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

    PubMed

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

    2014-04-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2014-10-01

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

  19. Detecting somatic mutations in genomic sequences by means of Kolmogorov-Arnold analysis.

    PubMed

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

    2015-08-01

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

  20. Detecting somatic mutations in genomic sequences by means of Kolmogorov-Arnold analysis.

    PubMed

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

    2015-08-01

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

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

    NASA Astrophysics Data System (ADS)

    Kaloshin, V.; Zhang, K.

    2015-08-01

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

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

    PubMed Central

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

    2015-01-01

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

  3. Computational analyses of arteriovenous malformations in neuroimaging.

    PubMed

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

    2015-01-01

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

  4. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  5. Advanced noninvasive imaging of spinal vascular malformations

    PubMed Central

    Eddleman, Christopher S.; Jeong, Hyun; Cashen, Ty A.; Walker, Matthew; Bendok, Bernard R.; Batjer, H. Hunt; Carroll, Timothy J.

    2010-01-01

    Spinal vascular malformations (SVMs) are an uncommon, heterogeneous group of vascular anomalies that can render devastating neurological consequences if they are not diagnosed and treated in a timely fashion. Imaging SVMs has always presented a formidable challenge because their clinical and imaging presentations resemble those of neoplasms, demyelination diseases, and infection. Advancements in noninvasive imaging modalities (MR and CT angiography) have increased during the last decade and have improved the ability to accurately diagnose spinal vascular anomalies. In addition, intraoperative imaging techniques have been developed that aid in the intraoperative assessment before, during, and after resection of these lesions with minimal and/or optimal use of spinal digital subtraction angiography. In this report, the authors review recent advancements in the imaging of SVMs that will likely lead to more timely diagnoses and treatment while reducing procedural risk exposure to the patients who harbor these uncommon spinal lesions. PMID:19119895

  6. Congenital malformations of uterus and vagina.

    PubMed

    Forstner, R; Hricak, H

    1994-07-01

    Congenital malformations of uterus and vagina result from failure of development, failure of fusion or septal reabsorption of the Mullerian ducts. They present with a spectrum of findings ranging from agenesis to duplications. They are of clinical importance because of their association with menstrual disorders and impaired fertility. Furthermore, women with Mullerian duct anomalies (MDAs) have a significant risk of obstetric complications such as spontaneous abortion, stillbirth and preterm delivery. Hysterosalpingography (HSG) and laparoscopy have long played a pivotal role in the evaluation of MDAs. Ultrasonography and recently magnetic resonance imaging (MRI) have emerged as noninvasive modalities that are used complementarily or as alternative diagnostic tools. The radiographic findings according to the classification of Buttram and Gibbons are described for HSG, ultrasound and MRI. The advantages and limitations of each method are discussed, and finally an algorithm for imaging is recommended.

  7. Imaging diagnosis of congenital uterine malformation.

    PubMed

    Pui, Margaret H

    2004-10-01

    Congenital anomaly of the female reproductive system is associated with higher rate of infertility, spontaneous abortion, intrauterine growth retardation, premature birth and postpartum bleed. Because of the variable clinical pictures of obstruction of menstrual flow in adolescence to hypomenorrhea, vaginal discharge, dyspareunia, and fertility problems in adult life, early and accurate diagnosis is difficult. Complete uterine and vaginal septum can be easily confused with uterus didelphys. Management of these two müllerian duct anomalies is different. With improved treatment methods for complete relief of symptoms and prevention of further sequelae, comprehensive evaluation is important to identify the underlying problem and formulate appropriate therapeutic plan. The embryology, classification, and clinical presentation of uterine malformation, advantages and limitations of diagnostic methods including hysterosalpingogram, ultrasound, magnetic resonance imaging, laparoscopy, and hysteroscopy are discussed. The imaging features of different types of uterine anomalies are illustrated.

  8. Surgical treatment of arteriovenous malformations of the posterior fossa.

    PubMed

    Viale, G L; Pau, A; Viale, E S

    1979-11-01

    Nine cases of arteriovenous malformations of the posterior fossa were operated upon, using microsurgical techniques. The excision was radical in eight patients. Seven of them, as well as the sole patient who had a partial removal of the malformation, returned to their previous occupations without neurological signs. In one case the preoperative deficit was unchanged. Some lesions that appear to penetrate the brain stem actually lie on its surface and can be dissected through an extrapial plane of cleavage. Extension of the malformation into the cerebellar peduncles requires dissection of the tangle and opening of the IVth ventricle.

  9. Laparoscopic excision of a retroperitoneal lymphatic malformation in a newborn.

    PubMed

    Solari, Valeria; Mullassery, Dhanya; Lansdale, Nick; Jesudason, Edwin C

    2011-02-01

    Abdominal lymphatic malformations may be challenging to eradicate. Retroperitoneal lesions may more difficult to resect than mesenteric ones; however, the latter may predispose to intestinal volvulus, leading to calls for their prompt excision. Such lesions identified perinatally may pose particular challenges: in one case, respiratory failure caused by abdominal distension required emergency drainage followed by later laparoscopic excision; laparoscopy has also been used promptly to diagnose and resect neonatal mesenteric lymphatic malformations with their inherent volvulus risk. We illustrate that even if neonatal laparoscopy identifies a retroperitoneal rather than mesenteric lymphatic malformation, curative endosurgical excision remains feasible.

  10. Subphrenic bronchopulmonary foregut malformation with pulmonary-sequestration-like features.

    PubMed

    Matsubayashi, Jun; Ishida, Tsuyoshi; Ozawa, Takashi; Aoki, Tatsuya; Koyanagi, Yasuhisa; Mukai, Kiyoshi

    2003-05-01

    A retroperitoneal bronchopulmonary foregut malformation in a 62-year-old man is reported. The lesion was composed of mature lung tissue with randomly distributed bronchial structures and ciliated epithelium-lined cysts, some of which were lined with gastric mucosa. The histological features of this lesion were of both pulmonary sequestration and a bronchogenic, or foregut, cyst, and thus were a unique example of bronchopulmonary foregut malformation with pulmonary differentiation. This case is important in understanding the pathogenesis of foregut anomalies (i.e. bronchopulmonary foregut malformations), which range from pulmonary sequestrations to bronchogenic cysts and foregut duplication cysts.

  11. Large arteriovenous malformation of the oromaxillofacial region with multiple phleboliths.

    PubMed

    Orhan, Kaan; Icen, Murat; Aksoy, Secil; Avsever, Hakan; Akcicek, Gokcen

    2012-10-01

    Vascular tumors are the most common benign tumors of the head and neck in infancy and childhood. Vascular anomalies of the head and neck were divided into 2 categories including hemangiomas and vascular malformations. Oral and maxillofacial hemangiomas and vascular malformations are congenital lesions with various clinical characteristics, manifestations, indications, and possibilities for treatment. This paper reports a case of large arteriovenous malformations including a description of the features demonstrated by panoramic radiography, cone beam computed tomography, and magnetic resonance imaging. The differential diagnosis and treatment modalities (including embolization with N-butylcyanoacrylate in this case) are also discussed following the case presentation, along with the available literature review.

  12. Le syndrome de Budd-Chiari: une complication rare de la sarcoïdose hépatique (à propos d'un cas)

    PubMed Central

    Sghier, Ismael Ait; Billah, Nabil Moatassim

    2016-01-01

    L'atteinte hépatique au cours de la sarcoïdose est une localisation fréquente, habituellement asymptomatique. La cholestase anictérique et l'hypertension portale représentent ses principales complications. Le syndrome de Budd-Chiari est une complication peu connue qui demeure exceptionnelle. Nous rapportons un nouveau cas de syndrome de Budd-Chiari compliquant une sarcoïdose hépatique chez une jeune femme de 45 ans. PMID:27200114

  13. US and MRI features in venous vascular malformation of the abdominal wall. A case report

    PubMed Central

    Alessandrino, F.; Maira, A.; Tarantino, C.C.

    2012-01-01

    Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features. PMID:23450707

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

    USGS Publications Warehouse

    Robinson, John A.; Haugh, Connor J.

    2004-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  16. Acute Budd-Chiari syndrome due to a simple liver cyst.

    PubMed

    Long, J; Vaughan-Williams, H; Moorhouse, J; Sethi, H; Kumar, N

    2014-01-01

    Simple liver cysts are common, rarely causing significant morbidity or mortality. Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow and is the leading cause of postsinusoidal liver failure. We present a rare case of BCS caused by a simple hepatic cyst. A 16 cm × 16 cm liver cyst was found on computed tomography of a 66-year-old woman presenting with abdominal pain. The cyst had become infected, thus enlarged, exerting mass effect with almost complete compression of the inferior vena cava. Shortly after admission, the patient developed acute liver failure, with deranged clotting and hepatic encephalopathy requiring full organ support on the intensive care unit. Cardiac output studies showed a low cardiac index of 1.4 l/min/m(2). An emergency laparotomy with fenestration of the cyst and drainage of 2l of purulent material led to a full recovery. Intraoperative cystic fluid aspirates later confirmed no evidence of Echinococcus. Histology confirmed a simple cyst. Liver biopsies showed severe, confluent, bridging necrosis, without background parenchymal liver disease. Acute BCS due to rapid compression of all major hepatic veins leading to fulminant hepatic failure is rare. Our case highlights a clinically significant complication of a simple liver cyst of which clinicians should be aware when managing these 'innocent' lesions.

  17. Serum Iodine Is Increased in Subjects Having Budd-Chiari Syndrome.

    PubMed

    Zhuang, Yinping; Zu, Maoheng; Li, Jingjing; Wang, Yong; Han, Cuiping; Zhang, Qingqiao; Xu, Wei; Wei, Ning; Xu, Kai

    2015-11-01

    This study was performed to investigate the status of serum iodine concentration among the Budd-Chiari syndrome (BCS) patients and its effect on thyroid hormone. The study group serum specimens were collected from 233 BCS patients and 60 healthy people. Serum iodine was analyzed with the Sandell-Kolthoff method, and the ELISA method was used to detect thyroid function: TSH, T3, T4, FT3, and FT4. The serum iodine level of patients with BCS was 316.7 ± 256.8 μg/L, greatly higher than 76.3 ± 25.7 μg/L of serum iodine for control group (p < 0.001), but with no significant difference among different types of BCS. There were no statistically significant differences in thyroid hormone levels (TSH, T3, T4, FT3, and FT4) between people with BCS and control group, although the TSH level of BCS group is slightly higher than that of normal control group. This study demonstrates that iodine may be related to the pathogenesis of BCS and needs to be paid more attention.

  18. Malformations of Cortical Development: From Postnatal to Fetal Imaging.

    PubMed

    Lerman-Sagie, Tally; Leibovitz, Zvi

    2016-09-01

    Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity. Although MCD are rarely diagnosed prenatally, both dedicated multiplanar neurosonography and magnetic resonance imaging enable good demonstration of fetal cortical development. The imaging signs of fetal MCD are: delayed or absent cerebral sulcation; premature abnormal sulci; thin and irregular hemispheric parenchyma; wide abnormal overdeveloped gyri; wide opening of isolated sulci; nodular bulging into the lateral ventricles; cortical clefts; intraparenchymal echogenic nodules; and cortical thickening. The postnatal and prenatal imaging features of four main malformations of cortical development-lissencephaly, cobblestone malformations, periventricular nodular heterotopia, and polymicrogyria-are described. PMID:27670206

  19. Pulmonary arteriovenous malformation unmasked in pregnancy: A case report

    PubMed Central

    Anin, Sheba Reshmi; Sabharwal, Tarun; Harrison-Phipps, Karen

    2013-01-01

    Pulmonary arteriovenous malformations are anomalous communications between arteries and veins of the pulmonary vasculature. Its incidence is rare. Pulmonary arteriovenous malformations can be asymptomatic or cause profound cardiovascular compromise and adverse neurological sequelae, as a result of right to left shunting of deoxygenated blood. Pregnancy and its physiological demands can unmask and exacerbate pulmonary arteriovenous malformations with attendant risks of life threatening complications and rarely, death. This case report describes a first presentation of pulmonary arteriovenous malformation in pregnancy and the tendency for misdiagnosis with pulmonary embolism. A multidisciplinary approach to management is pertinent considering the challenges involved in deciding the appropriate therapeutic management in pregnancy which has to be weighed against potential maternal and fetal risks.

  20. Malformation syndromes associated with disorders of sex development.

    PubMed

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

    2014-08-01

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

  1. Glioma coexisting with angiographically occult cerebrovascular malformation: A case report

    PubMed Central

    Chen, Junhui; Chen, Lei; Zhang, Chunlei; He, Jianqing; Li, Peipei; Zhou, Jingxu; Zhu, Jun; Wang, Yuhai

    2016-01-01

    Angiographically occult cerebrovascular malformation (AOVM) is a type of complex cerebrovascular malformation that is not visible on digital subtraction angiography (DSA). Vascular malformation coexisting with glioma is clinically rare, and glioma coexisting with AOVM is even more rare. To the best of our knowledge, the present study is the first to report glioma coexisting with AOVM in the literature. The present study reports a rare case of glioma coexisting with AOVM in a 30-year-old male patient. Computed tomography (CT) scan revealed calcification, hemorrhage and edema in the right frontal lobe. CT angiography revealed a vascular malformation in the right frontal lobe, which was not observed on DSA. Finally, glioma coexisting with AOVM was confirmed by 2.0T magnetic resonance imaging and postoperative pathological examination. The present patient had a positive outcome and no neurological dysfunctions during the 6-month follow-up subsequent to surgery. PMID:27698825

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

    PubMed Central

    2012-01-01

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

  3. [Currarino's triad: anorectal malformation, sacral anomaly and presacral mass].

    PubMed

    Arifi, Mohamed; Kaddouri, Nourredine; Abdelhak, M'Barek; Benhmamouch, Mohammed Najib; Barahioui, Mohammed

    2006-01-01

    We report the case of a 3 year old boy with a combination of anorectal malformation, sacral agenesia and anterior meningocele (Currarino's triad) and provide a review of the literature of this rare syndrome. PMID:16514396

  4. Glioma coexisting with angiographically occult cerebrovascular malformation: A case report

    PubMed Central

    Chen, Junhui; Chen, Lei; Zhang, Chunlei; He, Jianqing; Li, Peipei; Zhou, Jingxu; Zhu, Jun; Wang, Yuhai

    2016-01-01

    Angiographically occult cerebrovascular malformation (AOVM) is a type of complex cerebrovascular malformation that is not visible on digital subtraction angiography (DSA). Vascular malformation coexisting with glioma is clinically rare, and glioma coexisting with AOVM is even more rare. To the best of our knowledge, the present study is the first to report glioma coexisting with AOVM in the literature. The present study reports a rare case of glioma coexisting with AOVM in a 30-year-old male patient. Computed tomography (CT) scan revealed calcification, hemorrhage and edema in the right frontal lobe. CT angiography revealed a vascular malformation in the right frontal lobe, which was not observed on DSA. Finally, glioma coexisting with AOVM was confirmed by 2.0T magnetic resonance imaging and postoperative pathological examination. The present patient had a positive outcome and no neurological dysfunctions during the 6-month follow-up subsequent to surgery.

  5. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

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

    PubMed

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

    2014-09-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    SciTech Connect

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

    1991-02-01

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

  9. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  10. Traumatic arteriovenous malformation of the external carotid arterial system.

    PubMed

    Marks, M W; Argenta, L C; Dingman, R O

    1984-01-01

    Traumatic arteriovenous (AV) malformations of the face and scalp are rare lesions characterized by multiple endothelial-lined channels between the arterial and venous systems. If improperly managed they have a high propensity to recur, and may result in severe cosmetic deformity. Lesions should be delineated by arteriography unless small and localized. They are managed by complete excision and ligation of arterial feeding vessels. Five cases of traumatic AV malformation of the face and scalp and their management are reported.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

    Weizmann, Fredric

    2010-01-01

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

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

    PubMed

    Weizmann, Fredric

    2010-01-01

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

  14. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

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

    2012-01-01

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

  15. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    PubMed Central

    Achar, Shashidhar Vedavyas; Dutta, Hemonta Kumar

    2016-01-01

    Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%), and corpus callosal agenesis (12 patients) was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients), hydrocephalus (7 patients), and agyria-pachygyria complex (2 patients). Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations. PMID:27313974

  16. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

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

    2015-01-01

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

  17. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

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

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening. PMID:27027094

  18. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk. PMID:3969404

  19. Hydrology and tree-distribution patterns of karst wetlands at Arnold Engineering Development Center, Tennessee

    USGS Publications Warehouse

    Wolfe, W.J.

    1996-01-01

    Flooding regimes, ground-water interactions, and tree distribution patterns were determined in seasonally flooded sinkhole wetlands at Arnold Engineering Development Center near Manchester, Tennessee. The wetlands are ecologically significant because they support coastal-plain plants and animals far from their typical ranges. Surface-water stage, ground-water levels, rainfall, and streamflow were monitored at or near five wetland sites. Sinking Pond, Willow Oak Swamp, and Westall Swamp are compound sinks with depths greater than 2.5 meters, visible internal drains, and complex bottom topography dominated by coalesced sinkholes and connecting channels. Tupelo Swamp and Goose Pond are karst pans with depths less than 1.5 meters, flat bottoms, and without visible internal drains. Stage rose and fell abruptly in the compound sinks. Maximum water depths ranged from 2.6 meters in Westall Swamp to 3.5 meters in Sinking Pond. Water levels in wells adjacent to Sinking Pond and Westall Swamp rose and fell abruptly, corresponding closely to surface-water stage throughout periods of high water. The two karst pans filled and drained more gradually, but remained flooded longer than the compound sinks. The maximum recorded water depths were 1.1 meters in Tupelo Swamp and 0.7 meter in Goose Pond. Water levels in nearby wells remained lower than the stage in the pans throughout the study period. Tree species were identified and the elevations and diameters of individual trees were measured along 10 transects. Two transects crossed Sinking Pond, two crossed Tupelo Swamp, and one crossed Willow Oak Swamp. The remaining five transects crossed intermittent drainageways that carry flow into or out of Sinking Pond. Transects through ponds had fewer trees but more basal area per unit area of land surface than did transects through channels. Water tupelo (Nyssa aquatica L.) dominated the interior of Tupelo Swamp and had minimal overlap in terms of elevation and flooding duration with other

  20. Onyx in Brain Arteriovenous Malformation Embolisation

    PubMed Central

    Hashim, Hilwati; Muda, A Sobri; Abdul Aziz, Aida; Abdul Hamid, Zuhanis

    2016-01-01

    Introduction Embolisation has long been used as an adjunct to surgical resection in the treatment of brain arteriovenous malformation (bAVM). The most commonly used embolic material, n-butylcyanoacrylate glue, requires experience and skill to handle its quick and unpredictable flow and polymerisation. A new liquid embolic agent, ethylene vinyl alcohol copolymer (Onyx), is less adhesive and polymerises slowly, which provides better control for radiologists performing embolisation. Objective To report our experience in embolisation using Onyx alone or in combination with histoacryl for bAVM embolisation in our tertiary referral centre. Methods We retrospectively reviewed the anatomy, technical conditions, complications and clinical outcome of all bAVM patients embolised at our centre using Onyx alone or in combination with n-butylcyanoacrylate glue. Results Between 2010 and 2013, 13 patients [6 (46.2%) male; 7 (53.8%) female; aged, 14–57 years] were included, and a total of 31 embolisations were performed. Clinical presentation included hemorrhage [9 (69.2%)], seizures [2 (15.4%)], and headache [2 (15.4%)]. Most AVMs were located in the brain hemispheres [12 (92.3%)] and measured <3 cm [7 (53.8%]. Complete occlusion of the AVM was obtained in 2 (15.4%) patients; 11 (84.6%) patients had partial occlusion [6 (54.5%) had <50% nidus occlusion]. Complications occurred in four procedures involving 3 patients (morbidity, 23.1%). This resulted in the death of 1 patient (mortality, 7.7%) and complete recovery with no disability in 2 patients. Conclusion The total nidal occlusion achieved herein is comparable to other similar studies. Our morbidity and mortality were higher compared to other studies which may be attributed to the small number of patients. More data is being collected which may better reflect on our experience. PMID:27660546

  1. Cerebral circulation during arteriovenous malformation operation.

    PubMed

    Barnett, G H; Little, J R; Ebrahim, Z Y; Jones, S C; Friel, H T

    1987-06-01

    The circulatory changes in the cortex around a cerebral arteriovenous malformation (AVM) were studied in 18 patients. The AVMs had rapid circulation times with early draining veins on angiography. Local cortical blood flow (lCoBF) was measured with cortically applied thermister/Peltier stack arrays. The AVMs had a more pronounced effect on lCoBF at a 2- to 4-cm distance from the AVM margin than in the adjacent cortex. Mean preexcision lCoBF was 62.9 +/- 6.7 (SE) ml/100 g/minute (i.e., similar to normal controls) near the AVM margin and 43.0 +/- 4.2 ml/100 g/minute far (i.e., greater than 2 cm) from the AVM. CO2 reactivity (COR) before excision was 1.1 +/- 0.3 ml/100 g/minute/torr of CO2 (i.e., similar to normal controls) at near sites and 0.6 +/- 0.3 ml/100 g/minute/torr of CO2 at far sites. The mean postexcision near lCoBF remained stable at 55.8 +/- 5.1 ml/100 g/minute at near sites, but the far lCoBF significantly increased (P less than 0.05) to 57.2 +/- 6.8 ml/100 g/minute. The cortical feeding artery pressure was substantially below the normal cortical artery pressure in 50% of the cases studied. Pressure in these arteries normalized after occlusion and AVM excision, resulting in a rapid increase in cortical artery perfusion pressure. Draining red vein pressure, which was elevated before AVM excision, also dropped after excision, contributing to the increase in perfusion pressure. Two patients who developed the normal perfusion pressure breakthrough syndrome (PBS) after operation had low lCoBF and disturbed COR before AVM excision and marked increase of lCoBF after excision.(ABSTRACT TRUNCATED AT 250 WORDS)

  2. Surgical Strategies for Acutely Ruptured Arteriovenous Malformations.

    PubMed

    Martinez, Jaime L; Macdonald, R Loch

    2015-01-01

    Brain arteriovenous malformations (AVMs) are focal neurovascular lesions consisting of abnormal fistulous connections between the arterial and venous systems with no interposed capillaries. This arrangement creates a high-flow circulatory shunt with hemorrhagic risk and hemodynamic abnormalities. While most AVMs are asymptomatic, they may cause severe neurological complications and death. Each AVM carries an annual rupture risk of 2-4%. Intracranial hemorrhage due to AVM rupture is the most common initial manifestation (up to 70% of presentations), and it carries significant morbidity and mortality. This complication is particularly important in the young and otherwise healthy population, in whom AVMs cause up to one-third of all hemorrhagic strokes. A previous rupture is the single most important independent predictor of future hemorrhage. Current treatment modalities for AVM are microsurgery, endovascular embolization, and radiosurgery. In acutely ruptured AVMs, early microsurgical excision is usually avoided. The standard is to wait at least 4 weeks to allow for patient recovery, hematoma liquefaction, and inflammatory reactions to subside. Exceptions to this rule are small, superficial, low-grade AVMs with elucidated angioarchitecture, for which early simultaneous hematoma evacuation and AVM excision is feasible. Emergent hematoma evacuation with delayed AVM excision (unless, as mentioned, the AVM is low grade) is recommended in patients with a decreased level of consciousness due to intracranial hemorrhage, posterior fossa or temporal lobe hematoma of >30 ml, or hemispheric hematoma of >60 ml. The applicability of endovascular techniques for acutely ruptured AVMs is not clear, but feasible options, until a definitive treatment is determined, include occluding intranidal and distal flow-related aneurysms and 'sealing' any rupture site or focal angioarchitectural weakness when one can be clearly identified and safely accessed. Radiosurgery is not performed in

  3. Onyx in Brain Arteriovenous Malformation Embolisation

    PubMed Central

    Hashim, Hilwati; Muda, A Sobri; Abdul Aziz, Aida; Abdul Hamid, Zuhanis

    2016-01-01

    Introduction Embolisation has long been used as an adjunct to surgical resection in the treatment of brain arteriovenous malformation (bAVM). The most commonly used embolic material, n-butylcyanoacrylate glue, requires experience and skill to handle its quick and unpredictable flow and polymerisation. A new liquid embolic agent, ethylene vinyl alcohol copolymer (Onyx), is less adhesive and polymerises slowly, which provides better control for radiologists performing embolisation. Objective To report our experience in embolisation using Onyx alone or in combination with histoacryl for bAVM embolisation in our tertiary referral centre. Methods We retrospectively reviewed the anatomy, technical conditions, complications and clinical outcome of all bAVM patients embolised at our centre using Onyx alone or in combination with n-butylcyanoacrylate glue. Results Between 2010 and 2013, 13 patients [6 (46.2%) male; 7 (53.8%) female; aged, 14–57 years] were included, and a total of 31 embolisations were performed. Clinical presentation included hemorrhage [9 (69.2%)], seizures [2 (15.4%)], and headache [2 (15.4%)]. Most AVMs were located in the brain hemispheres [12 (92.3%)] and measured <3 cm [7 (53.8%]. Complete occlusion of the AVM was obtained in 2 (15.4%) patients; 11 (84.6%) patients had partial occlusion [6 (54.5%) had <50% nidus occlusion]. Complications occurred in four procedures involving 3 patients (morbidity, 23.1%). This resulted in the death of 1 patient (mortality, 7.7%) and complete recovery with no disability in 2 patients. Conclusion The total nidal occlusion achieved herein is comparable to other similar studies. Our morbidity and mortality were higher compared to other studies which may be attributed to the small number of patients. More data is being collected which may better reflect on our experience.

  4. Reproductive impairment and the malformed uterus.

    PubMed

    Jones, H W

    1981-08-01

    The reproductive potential of the malformed uterus is assessed, with emphasis on problems of vertical and lateral fusion. An obstructive transverse vaginal septum, which appears to result from a rare autosomal recessive gene, can be encountered in infancy or may not manifest symptoms until the onset of menstruation when menstrual blood accumulates. Hysterectomy is the recommended treatment, except in rare cases where there is only partial failure of the cervix to develop or there is a very short distance between the vagina and the endometrial cavity. Only 1 case of successful reproduction has been documented among women with this condition. Pregnancies have been reported in instances of partial transverse vaginal septum; however, postpartum pyometra and pyocolpos can develop, requiring emergency surgical drainage. Symptoms in women with obstructed lateral fusion are related to the site of obstruction. Reproduction may occur after removal of the vaginal septum in women with a uterus didelphys with a double vagina and low vaginal obstruction. Ectopic pregnancies have been reported inw women with an obstructed rudimentary horn. Unilateral obstruction is almost always accompanied by absence of the ipsilateral kidney, suggesting that bilateral obstruction is associated with bilateral kidney agenesis with consequent nonviability of the developing embryo. Reproduction appears to be somewhat compromised by infertility, pregnancy wastage, and premature labor in patients with either a didelphic or a unicornuate uterus. The bicornuate uterus causes only minimal reproductive problems, while the septate uterus is almost always associated with reproductive failure. Examination under anesthesia or laparoscopy may be required to distinguish between these 2 types of double uterus. Excision of the septum by wedge is the recommended operative treatment of a septate uterus. After this procedure, 77% of patients in 1 series had a term delivery. 73% of all pregnancies following the

  5. Diagnosis of the cavo-hepato-atrial pathway in Budd-Chiari syndrome by ultrasonography.

    PubMed

    Gai, Yong-Hao; Cai, Shi-Feng; Fan, Hui-Li; Liu, Qing-Wei

    2014-09-01

    The aim of this study was to investigate the ultrasonic features of the cavo-hepato-atrial pathway in Budd-Chiari syndrome (BCS), by which blood is drained from the occluded inferior vena cava (IVC) to the right atrium via hepatic veins. Ultrasonograms from 11 patients with BCS with cavo-hepato-atrial pathways were retrospectively studied. Doppler ultrasound was used to observe the direction of the flow and measure the velocity of the blood-draining vessels. Blood flow in the draining vessels and the collaterals was shown as blue, red or bicolored depending on whether the flow direction was away from the transducer, towards the transducer or both. For measurement, the Doppler angle between the axis of the Doppler beam and that of the vein examined was always <60°. Ultrasonography was performed 1-2 weeks prior to digital subtraction angiography (DSA). All patients were confirmed by DSA. Membranous and segmental occlusions of IVCs were observed in seven and four cases, respectively. Blood flow from the IVC reversed to the hepatic/accessory hepatic vein, continued through the dilated intrahepatic collaterals, onward to the other hepatic vein and finally to the right atrium. The majority of the inlets (8/11) of hepatic veins above the occlusion were narrow compared with the dilated distant parts of the lumens. Accelerated blood flow in the inlets was detected in all patients regardless of the luminal diameter. In conclusion, the results from the present study suggest that the unusual cavo-hepato-atrial pathway can be diagnosed reliably by ultrasonography, which may be useful for clinical management. PMID:25120601

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

    PubMed Central

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

    1983-01-01

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

  7. 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.

  8. A familial venous malformation locus is on chromosome 9p

    SciTech Connect

    Boon, L.M.; Mulliken, J.B.; Vikkula, M.

    1994-09-01

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

  9. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

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

    2000-01-01

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

  10. Anorectal Malformations Caused by Defects in Sonic Hedgehog Signaling

    PubMed Central

    Mo, Rong; Kim, Jae Hong; Zhang, Jianrong; Chiang, Chin; Hui, Chi-chung; Kim, Peter C. W.

    2001-01-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2−/−;Gli3+/−, Gli2+/−;Gli3−/−, and Gli2−/−;Gli3−/− mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  11. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

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

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  12. Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

    PubMed

    Weston, Andrea D; Ozolins, Terence R S; Brown, Nigel A

    2006-12-01

    Congenital heart defects (CHDs) are the most common birth defects in humans. In addition, cardiac malformations represent the most frequently identified anomaly in teratogenicity experiments with laboratory animals. To explore the mechanisms of these drug-induced defects, we developed a model in which pregnant rats are treated with dimethadione, resulting in a high incidence of heart malformations. Interestingly, these heart defects were accompanied by thoracic skeletal malformations (cleft sternum, fused ribs, extra or missing ribs, and/or wavy ribs), which are characteristic of anterior-posterior (A/P) homeotic transformations and/or disruptions at one or more stages in somite development. A review of other teratogenicity studies suggests that the co-occurrence of these two disparate malformations is not unique to dimethadione, rather it may be a more general phenomenon caused by various structurally unrelated agents. The coexistence of cardiac and thoracic skeletal malformations has also presented clinically, suggesting a mechanistic link between cardiogenesis and skeletal development. Evidence from genetically modified mice reveals that several genes are common to heart development and to formation of the axial skeleton. Some of these genes are important in regulating chromatin architecture, while others are tightly controlled by chromatin-modifying proteins. This review focuses on the role of these epigenetic factors in development of the heart and axial skeleton, and examines the hypothesis that posttranslational modifications of core histones may be altered by some developmental toxicants.

  13. Vein of Galen arteriovenous malformation mimicking coarctation of the aorta.

    PubMed

    Firdouse, Mohammed; Agarwal, Arnav; Mondal, Tapas

    2014-12-01

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

  14. Commentary: RCT of Optimal Dose Methylphenidate in Children and Adolescents with Severe ADHD and ID--A Reply to Arnold (2013)

    ERIC Educational Resources Information Center

    Simonoff, Emily; Taylor, Eric; Baird, Gillian; Bernard, Sarah

    2013-01-01

    The commentary by Arnold (2013) raises a number of interesting issues and speculations about the action of methylphenidate in children with intellectual disability (ID) and associated neurodevelopmental disorders, such as autism spectrum disorders. In our article (Simonoff et al., 2013), we were careful to stick closely to the statistical analysis…

  15. Immigration Reform: Implementation of Legalization Program. Statement of Arnold P. Jones, Senior Associate Director, General Government Division before the Subcommittee on Immigration and Refugee Affairs Committee.

    ERIC Educational Resources Information Center

    Jones, Arnold P.

    This document presents the testimony of Arnold P. Jones, Senior Associate Director of the United States General Accounting Office, before the Senate Subcommittee on Immigration and Refugee Affairs, on the Immigration Reform and Control Act of 1986. The Act established a legalization program that permits undocumented aliens to become permanent…

  16. Spinal arteriovenous malformations: Is surgery indicated?

    PubMed Central

    Singh, Bikramjit; Behari, Sanjay; Jaiswal, Awadhesh K.; Sahu, Rabi Narayan; Mehrotra, Anant; Mohan, B. Madan; Phadke, Rajendra V.

    2016-01-01

    Purpose: To identify clinico-radiological distinguishing features in various types of spinal arteriovenous malformations (AVM) with an aim to define the role of surgical intervention. Materials and Methods: Hero's modified Di Chiro classification differentiated four types of spinal AVMs on digital subtraction angiogram (DSA) in 74 patients: I. Dural arteriovenous fistulae (n = 35, 47.3%); II. Glomus/intramedullary (n = 13, 17.6%); III. Juvenile/metameric (n = 4, 5.4%); and, IV. Ventral perimedullary fistula (n = 21, 28.4%). A patient with extradural AVM remained unclassified. Demographic profiles, DSA features and reason for surgical referral were recorded. Statistical comparison of discrete variables like gender, spinal cord level, presentation and outcome was made using Chi-square test; and, continuous variables like age, feeder number, duration of symptoms and number of staged embolizations by one way analysis of variance with Boneferoni post hoc comparison. Embolization alone (n = 39, 52.7%), surgery alone (n = 16, 21.6%), and combined approach (n = 4, 5.4%) were the treatments offered (15 were treated elsewhere). Results: Type I-AVM occurred in significantly older population than other types (P = 0.01). Mean duration of symptoms was 13.18 ± 12.8 months. Thoracic cord involvement predominated in type-I and III AVMs (P = 0.01). Number of feeding arteries were 1 in 59.7%; 2 in 29.0%; and, multiple in 11.3% patients, respectively. Staged embolization procedures in type-III AVM were significant (P < 0.01). Surgical referral was required due to: Vessel tortuosity/insufficient parent vessel caliber (n = 7); residual AVM (n = 4); low flow AVM (n = 3); and, multiple feeders (n = 2). Check DSA (n = 34) revealed complete AVM obliteration in 26 and minor residual lesion in eight patients. Neurological status improved in 26 and stabilized in 25 patients. Conclusions: Differentiating between Type I-IV AVMs has a significant bearing on their management. Surgical

  17. [Congenital spinal malformations: issues of anthropological ancient samples].

    PubMed

    Boano, Rosa; Catalano, Paola; Pacciani, Elsa; Fulcheri, Ezio; Massa, Emma Rabino

    2006-01-01

    This work is part of a more extensive, still ongoing, research which aims to provide a morphological assessment and interpretation of congenital malformations on ancient bones. The study of the frequency and distribution of congenital malformations on juvenile osteological remains may provide interesting insight and critical observations in assessing the role of those factors that are responsible for child's mortality. In the present study we describe and discuss two cases of congenital spinal malformation refer to failure in the separation of vertebral arch elements between contiguous vertebrae. The skeletons belonging to two children who died in early childhood, between 0 and 6 years of age. The research was conducted on 132 juvenile individuals came from nine necropolises located in north an middle Italy, from ancient and late Roman times to late medieval times. PMID:17992848

  18. Genomic Variants and Variations in Malformations of Cortical Development

    PubMed Central

    Jamuar, Saumya S.; Walsh, Christopher A.

    2015-01-01

    Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions. PMID:26022163

  19. Electroencephalography in congenital malformations of the central nervous system.

    PubMed

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries. PMID:7611945

  20. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy.

    PubMed

    Loomba, Rohit; Shah, Parinda H; Anderson, Robert H

    2015-05-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called "visceral heterotaxy", in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI. PMID:26180693

  1. Models of cortical malformation--Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans.

  2. [The genetic background for the eye malformations anophthalmia and microphthalmia].

    PubMed

    Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

    2012-03-12

    Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

  3. Vascular malformations: an update on imaging and management.

    PubMed

    Sierre, Sergio; Teplisky, Darío; Lipsich, José

    2016-04-01

    Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular malformation, a proper classification and identification is critical. The objective of this article is to provide the necessary information about the current classification and terminology of vascular anomalies, including basic concepts about available imaging diagnostic and therapeutic tools for the management of such complex condition.

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

    PubMed Central

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

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  5. Modification of Hepatic Venous Conduit to Manage Pulmonary Arteriovenous Malformations.

    PubMed

    McRae, Robert O; Lambert, Linda M; Williams, Richard V; Martin, Mary H; Burch, Phillip T

    2015-07-01

    While the Fontan operation is a reliable treatment option for many complex congenital heart defects, the development of pulmonary arteriovenous malformations (PAVMs) remains a problematic outcome for some Fontan patients. Pulmonary arteriovenous malformations stem from an imbalance of hepatic blood flow in the pulmonary system. Balancing this hepatic flow has shown promising results in the treatment of PAVMs. We report the clinical course of a young patient with heterotaxy syndrome and an unbalanced right dominant atrioventricular septal defect. This patient developed PAVMs following a Fontan procedure, however, the PAVMs were resolved following the revision of the original Fontan conduit to a bifurcated conduit. PMID:26180170

  6. [Urinary tract abnormalities with anorrectal malformations (author's transl)].

    PubMed

    Nogués, A; Ceres, M L; Olagüe, R; Andrés, V; Lanuza, A

    1978-01-01

    Thirty five patients with anorrectal malformations are reviewed. These are divided in high and low anomalies according to some simple clinical data, better than the drawing of reference lines to determinate the height of puborrectalis muscle. Malformations were associated in 13 cases with urinary tract estructural anomalies and in four cases with isolated vesico-ureteral reflux. Diagnosis of urinary tract infection was made in 14 patients, 12 of them with recto-urinary fistula. A point is made about the complete and early exploration of all these patients to prevent irreparable renal damage that could be developed. PMID:655503

  7. Ethnic differences in the distribution of congenital malformations.

    PubMed Central

    Terry, P. B.; Mathew, P. M.; Condie, R. G.; Bissenden, J. G.

    1983-01-01

    Major lethal and non-lethal congenital malformations occurring in babies born in Dudley Road Hospital in 1979, 1980 and 1981 were related to the ethnic group of the mother. There was an increased incidence of gastrointestinal malformations in the Indian group and an increased incidence of abnormalities that could be associated with consanguinity and increased maternal age in the Pakistani group. A sample population (2000 mothers) was obtained in the first 7 months of 1982 to determine the maternal age distribution and consanguinity rates in the various ethnic groups. PMID:6647180

  8. [Macro- and microscopic systematization of cerebral cortex malformations in children].

    PubMed

    Milovanov, A P; Milovanova, O A

    2011-01-01

    For the first time in pediatric pathologicoanatomic practice the complete systematization of cerebral cortex malformations is represented. Organ, macroscopic forms: microencephaly, macroencephaly, micropolygyria, pachygyria, schizencephaly, porencephaly, lissencephaly. Histic microdysgenesis of cortex: type I includes isolated abnormalities such as radial (IA) and tangential (I B) subtypes of cortical dislamination; type II includes sublocal cortical dislamination with immature dysmorphic neurons (II A) and balloon cells (II B); type III are the combination focal cortical dysplasia with tuberous sclerosis of the hippocampus (III A), tumors (III B) and malformations of vessels, traumatic and hypoxic disorders (III C). Band heterotopias. Subependimal nodular heterotopias. Tuberous sclerosis. Cellular typification of cortical dysplasia: immature neurons and balloon cells.

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

    SciTech Connect

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke; Sumi, Seiya; Ogata, Ichiro; Takahashi, Mutsumasa; Kawakami, Shigeo; Ueda, Shohichi

    1999-11-15

    We successfully performed embolization therapy for a pelvic arteriovenous malformation by the retrograde transvenous approach using a liquid embolic material. This malformation was unique in that it had a single draining vein, which allowed this technique employing an occlusion balloon.

  10. 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 ...

  11. Health information technology is a vehicle, not a destination: a conversation with David J. Brailer. Interview by Arnold Milstein.

    PubMed

    Brailer, David J

    2007-01-01

    The first U.S. national health care information technology (IT) coordinator estimates that if the current rate of interoperable electronic health record (EHR) adoption is sustained through 2014, it would create a launchpad for quality gain and health care spending reduction in excess of 50 percent in the subsequent decade. But in this conversation with Leapfrog Group cofounder and U.S. health care purchasing innovator Arnold Milstein, David Brailer identifies several environmental changes as critical to the materialization of this dividend. These include providers' ceding control of clinical information to patients, universal public availability of provider performance comparisons, and moving health policy from a no-man's land between government and market control.

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

    PubMed

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

    2014-11-01

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

  13. Arnold's mechanism of diffusion in the spatial circular restricted three-body problem: A semi-analytical argument

    NASA Astrophysics Data System (ADS)

    Delshams, Amadeu; Gidea, Marian; Roldan, Pablo

    2016-11-01

    We consider the spatial circular restricted three-body problem, on the motion of an infinitesimal body under the gravity of Sun and Earth. This can be described by a 3-degree of freedom Hamiltonian system. We fix an energy level close to that of the collinear libration point L1, located between Sun and Earth. Near L1 there exists a normally hyperbolic invariant manifold, diffeomorphic to a 3-sphere. For an orbit confined to this 3-sphere, the amplitude of the motion relative to the ecliptic (the plane of the orbits of Sun and Earth) can vary only slightly. We show that we can obtain new orbits whose amplitude of motion relative to the ecliptic changes significantly, by following orbits of the flow restricted to the 3-sphere alternatively with homoclinic orbits that turn around the Earth. We provide an abstract theorem for the existence of such 'diffusing' orbits, and numerical evidence that the premises of the theorem are satisfied in the three-body problem considered here. We provide an explicit construction of diffusing orbits. The geometric mechanism underlying this construction is reminiscent of the Arnold diffusion problem for Hamiltonian systems. Our argument, however, does not involve transition chains of tori as in the classical example of Arnold. We exploit mostly the 'outer dynamics' along homoclinic orbits, and use very little information on the 'inner dynamics' restricted to the 3-sphere. As a possible application to astrodynamics, diffusing orbits as above can be used to design low cost maneuvers to change the inclination of an orbit of a satellite near L1 from a nearly-planar orbit to a tilted orbit with respect to the ecliptic. We explore different energy levels, and estimate the largest orbital inclination that can be achieved through our construction.

  14. Permanent ulnar nerve palsy after embolotherapy of arteriovenous malformation around the elbow.

    PubMed

    Cho, Chul-Hyun; Choi, Jin-Soo

    2011-01-01

    Permanent nerve palsy is an extremely rare but critical complication after embolotherapy of arteriovenous malformations of the extremities. The authors present a case of permanent ulnar nerve palsy after embolotherapy of an arteriovenous malformation around the elbow, and caution that transcatheter embolotherapy of arteriovenous malformations located close to major neurovascular structures must be carefully planned and individualized.

  15. 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,…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  17. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae.

  18. [A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].

    PubMed

    Lira, C; Hernández, G; Bolaños, J A

    2003-06-01

    An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565

  19. 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

  20. Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas.

    PubMed

    Whitworth, Walter W; Hick, Ryan W; Nelson, Kelly C; Sidhu-Malik, Navjeet K

    2015-11-01

    We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).

  1. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  2. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

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

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  3. Temperament profiles of children with vein of Galen malformations.

    PubMed

    Nass, R; Melnick, J; Berenstein, A

    1998-08-01

    Unlike many brain injured children who are often rather difficult, toddlers and school-aged children with congenital vein of Galen malformations (n = 20; age range, 4 months to 12 years with a mean of 4 years) evidence a relatively positive temperament profile (based on the Temperament Scales of Carey, McDevitt, Fullard, Hegvik, Medoff-Cooper). They do not, however, differ from normal children with regard to the frequency of easy, difficult, slow to warm up, and intermediate temperament clusters. The temperament profile of children with vein of Galen malformations appears unaffected by additional neurologic abnormalities (hydrocephalus, abnormal developmental quotient, seizure disorder, focal cortical lesions) or other factors including age at testing, sex, or socioeconomic status. Contrary to the findings in adults of right hemisphere dominance for attention, presence of additional right-sided focal cortical pathology was not associated with greater activity level, distractibility, or impersistence. In contrast to the findings in adults and children of right hemisphere dominance for emotions in general, children with vein of Galen malformations and additional right hemisphere cortical damage are not more difficult than those with additional left cortical pathology or no additional focal cortical pathology. The fact that the pathology in vein of Galen malformations is subcortical may explain their relatively easier temperament and the absence of lateralization effects.

  4. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  5. Hypospadias and anorectal malformations mediated by Eph/ephrin signaling

    PubMed Central

    Yucel, Selcuk; Dravis, Christopher; Garcia, Nilda; Henkemeyer, Mark; Baker, Linda A.

    2007-01-01

    Purpose Despite extensive research, the molecular basis of hypospadias and anorectal malformations is poorly understood, likely due to a multifactorial basis. The incidence of hypospadias is increasing, thus making research in this area warranted and timely. This review presents recent molecular work broadening our understanding of these disorders. Materials and Methods A brief review of our recent work and the literature on the role of Eph/ephrin signaling in hypospadias and anorectal malformations is presented. Results Genetically engineered mice mutant for ephrin-B2 or EphB2;EphB3 manifest a variety of genitourinary and anorectal malformations. Approximately 40% of adult male heterozygous mice demonstrate perineal hypospadias. Although homozygous mice die soon after birth, 100% of homozygous males demonstrate high imperforate anus with urethral anomalies and 100% of homozygous females demonstrate persistent cloaca. Male mice compound homozygous for EphB2ki/ki;EphB3Δ/Δ/ also demonstrate hypospadias. Conclusions These mouse models provide compelling evidence of the role of B-class Eph/ephrin signaling in genitourinary/anorectal development and add to our mechanistic and molecular understanding of normal and abnormal embryonic development. As research on the B-class Ephs and ephrins continues, they will likely be shown to be molecular contributors to the multifactorial basis of hypospadias and anorectal malformations in humans as well. PMID:18431460

  6. Lymphangiovenous malformation--a rare cause of giant retroperitoneal cyst.

    PubMed

    Ibrarullah, M D; Saxena, R; Sikora, S S; Haque, I; Choudhury, G; Gupta, R

    1993-12-01

    A giant retroperitoneal cyst manifesting as congenital inguino-scrotal swelling to begin with, is reported. The abdominal swelling became clinically obvious at the age of five years because of rapid enlargement over a period of one month. A multiloculated cyst was revealed on preoperative ultrasonography. Intracystic hemorrhage necessitated emergency surgical exploration and excision. Histology of the cyst revealed lymph-angio-venous malformation.

  7. Appendicitis Presenting Concurrently with Cecal Arteriovenous Malformation in a Child.

    PubMed

    Parikh, Sahil P; Rosenberg, Eric; Portalatin, Manuel E; Fakhoury, Elias; Madlinger, Robert V

    2015-01-01

    Acute appendicitis is a commonly diagnosed surgical problem in the pediatric population. Arterio-venous malformations (AVM) of the colonic tract are rarely reported in the pediatric literature. A 13-year old boy who presented with acute appendicitis with concurrent cecal AVM is reported in whom appendectomy was done. Later on radiological investigations AVM was confirmed.

  8. [Peri-operative anticoagulation with danaparoid for a patient with Budd-Chiari syndrome and heparin-induced thrombocytopenia].

    PubMed

    Brémaud, M; De Maistre, E; Junke, E; Guerci, A; Lalot, J-M; Longrois, D; Lecompte, T; Meistelman, C

    2004-02-01

    We report a case of Budd-Chiari syndrome revealing a polycythemia vera and complicated by heparin-induced thrombocytopenia. A surgical porto-caval shunt was inserted with danaparoid as anticoagulant during the peri-operative period. The doses of danaparoid were as follows: a continuous intravenous infusion of 200 U/h with a target between 0.5 et 0.8 U/ml antifactor Xa activity during the preoperative period, followed by 100 U/h with a target of 0.3 U/ml during the peroperative period; an increase in doses of danaparoid to 150 and 200 U/h with a target above 0.5 U/ml was used during the postoperative period. This case report is a rare situation of hypercoagulable state, in a surgical context, treated with danaparoid. PMID:14980323

  9. Hydrogeology of the area near the J4 test cell, Arnold Air Force Base, Tennessee

    USGS Publications Warehouse

    Haugh, C.J.

    1996-01-01

    The U.S. Air Force operates a major aerospace systems testing facility at Arnold Engineering Development Center (AEDC) in Coffee County, Tennessee. Dewatering operations at one of the test facilities, the J4 test cell, has affected the local ground-water hydrology. The J4 test cell is approximately 100 feet in diameter, extends approximately 250 feet below land surface, and penetrates several aquifers. Ground water is pumped continuously from around the test cell to keep the cell structurally intact. Because of the test cell's depth, dewatering has depressed water levels in the aquifers surrounding the site. The depressions that have developed exhibit anisotropy that is controlled by zones of high permeability in the aquifers. Additionally, contaminants - predominately volatile organic compounds - are present in the ground-water discharge from the test cell and in ground water at several other Installation Restoration Program (IRP) sites within the AEDC facility. The dewatering activities at J4 are drawing these contaminants from the nearby sites. The effects of dewatering at the J4 test cell were investigated by studying the lithologic and hydraulic characteristics of the aquifers, investigating the anisotropy and zones of secondary permeability using geophysical techniques, mapping the potentiometric surfaces of the underlying aquifers, and developing a conceptual model of the ground-water-flow system local to the test cell. Contour maps of the potentiometric surfaces in the shallow, Manchester, and Fort Payne aquifers (collectively, part of the Highland Rim aquifer system) show anisotropic water-level depressions centered on the J4 test cell. This anisotropy is the result of features of high permeability such as chert-gravel zones in the regolith and fractures, joints, and bedding planes in the bedrock. The presence of these features of high permeability in the Manchester aquifer results in complex flow patterns in the Highland Rim aquifers near the J4 test cell

  10. Clinical Characteristics of Patients Who Underwent Surgery for Genital Tract Malformations at Peking Union Medical College Hospital across 31 Years

    PubMed Central

    Wang, Guang-Han; Zhu, Lan; Liu, Ai-Ming; Xu, Tao; Lang, Jing-He

    2016-01-01

    Background: 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. Methods: 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. Results: 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). Conclusions: 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. PMID:27748336

  11. Positive Impact of Eculizumab Therapy on Surgery for Budd-Chiari Syndrome in a Patient with Paroxysmal Nocturnal Hemoglobinuria and a Long-Term History of Thrombosis

    PubMed Central

    De-la-Iglesia, Silvia; Luzardo, Hugo; Lemes, Angelina; Torres, Melissa; Gómez-Casares, Maria Teresa; Cruz, Naylen; Molero, Teresa

    2016-01-01

    Paroxysmal nocturnal hemoglobinuria (PNH) is associated with severe end-organ damage and a high risk of thrombosis. Budd-Chiari syndrome, which develops after thrombotic occlusion of major hepatic blood vessels, is relatively common in PNH and has been associated with increased mortality. We report the case of a 46-year-old male with PNH who presented with Budd-Chiari syndrome associated with portal cavernoma, portal hypertension and hypersplenism. In September 2010, the patient suffered gastrointestinal bleeding, hematuria, and elevated plasma lactate dehydrogenase; he started eculizumab therapy with a good response. In October 2012, he developed upper gastrointestinal variceal bleeding and a splenorenal shunt was placed. At the time of writing, the patient remains stable and eculizumab continues to be effective. There is limited data on the use of eculizumab for prevention of hemolysis and its consequences in PNH patients undergoing surgery. Our findings provide evidence for the efficacy and safety of eculizumab in this setting. PMID:27757214

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

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

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

  13. Ruptured tectal arteriovenous malformation demonstrated angiographically after removal of an unruptured occipital lobe arteriovenous malformation.

    PubMed

    Komatsu, Fuminari; Sakamoto, Seisaburou; Takemura, Yusuke; Nonaka, Masani; Ohta, Mika; Oshiro, Shinya; Tsugu, Hitoshi; Fukushima, Takeo; Inoue, Tooru

    2009-01-01

    We report a case of ruptured tectal arteriovenous malformation (AVM) that was demonstrated angiographically only after removal of an unruptured occipital AVM. A 57-year-old man presented with sudden onset of diplopia and tinnitus. Computed tomography revealed a small hemorrhage in the right tectum mesencephali with intraventricular hemorrhage. Magnetic resonance imaging and angiography disclosed AVM in the right occipital lobe which was separate from the hemorrhagic lesion. Angiography demonstrated that the right occipital AVM was fed by the parieto-occipital artery and drained into the superior sagittal sinus and vein of Galen. However, no abnormal vascular lesion was detected near the tectum mesencephali. As venous hypertension was considered the reason for hemorrhage, the occipital AVM was completely resected. Postoperative angiography demonstrated disappearance of the occipital AVM, but it also disclosed a small tectal AVM fed by branches from the superior cerebellar artery, which had not been detected on preoperative angiography. This was considered the true cause of hemorrhage, and gamma knife surgery was accordingly performed. Even if an AVM is demonstrated, if the lesion does not correspond to the hemorrhage we recommend serial angiographical evaluation so that a small AVM is not missed.

  14. 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

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

    PubMed

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

    2014-01-01

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

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

    SciTech Connect

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

    2008-11-15

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

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

    PubMed Central

    Koyama, Yasushi; 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. PMID:27672472

  18. 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. PMID:27672472

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

    PubMed Central

    Koyama, Yasushi; 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.

  20. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

    PubMed

    van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

    2012-02-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

  1. Arteriovenous malformation as a consequence of a scar pregnancy.

    PubMed

    Rygh, Astrid B; Greve, Ole J; Fjetland, Lars; Berland, Jannicke M; Eggebø, Torbjørn M

    2009-01-01

    A scar pregnancy is an ectopic pregnancy implanted in a previous lower segment cesarean scar, and the incidence of this complication may be expected to rise along with increasing cesarean section rates. Arteriovenous malformation of the uterus may be congenital, associated with early pregnancy loss, trophoblastic disease, or surgical procedures. We describe a case of uterine arteriovenous malformation as a consequence of a scar pregnancy, complicated by recurrent, serious bleeding. The condition was diagnosed using three-dimensional ultrasound with color Doppler and magnetic resonance imaging and appears not to have been described before. Selective embolization was performed, but eventually surgical intervention with resection of the affected uterine segment was necessary, and the patient recovered. The diagnosis was confirmed by pathologic-anatomical diagnosis showing trophoblastic cells in the resected area. Because of collateral formation, non-surgical options may be limited and not successful.

  2. Radiotherapy for intraarticular venous malformations of the knee.

    PubMed

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

    2014-11-01

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

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

    PubMed

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

    2014-04-01

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

  4. Cadmium induced malformation in eyes of Ambassis commersoni Cuvier

    SciTech Connect

    Pragatheeswaran, V. ); Loganathan, B. ); Natarajan, R. ); Venugopalan, V.K. )

    1989-11-01

    Pathological manifestations in fishes from the polluted environment reflect the deleterious effects of environmental damage to higher animals in the food chain including man. Industrial and mining wastes containing cadmium ions induced several abnormalities and metabolic disorders in aquatic animals. Though cadmium is reported to be toxic to all tissues of animals, cadmium-induced malformations in eyes of fish have not yet been described. During these investigations on acute toxicity of cadmium on the estuarine fish Ambassis commersoni, the authors observed the manifestations of creamy white eyes and protrusion of eye balls, leading to death of the fish. This paper deals with the eye malformation in cadmium-treated estuarine fish, A. commersoni. Cadmium induced behavioral changes and alteration in the glycogen levels in muscle and liver are also described.

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

    PubMed

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

    2006-01-01

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

  6. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

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

  7. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    PubMed

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  8. Arteriovenous malformation of the mandible and parotid gland

    PubMed Central

    Shailaja, S R; Manika; Manjula, M; Kumar, L V

    2012-01-01

    Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511

  9. Communicating septate uterus with double cervix: a rare malformation.

    PubMed

    Lev-Toaff, A S; Kim, S S; Toaff, M E

    1992-05-01

    The class of uterine malformations known as communicating uteri is characterized by two separate uterocervical cavities connected by an isthmic communication. Nine types have been described. We report the second proven case of a septate communicating uterus with double cervix. Investigation of secondary infertility in a woman with a history of second-trimester spontaneous abortion revealed two cervices on a speculum examination. A work-up for uterine anomaly began with endovaginal sonography, which demonstrated a normal fundal contour. A septum symmetrically dividing the endometrial cavity and two cervical canals were seen. The separated endometrial echoes converged at the isthmus, indicating a communicating uterus. Hysterosalpingography confirmed the diagnosis; injection of each cervix resulted in opacification of both hemicavities via the isthmic defect. Laparoscopy confirmed the normal fundal contour. It is believed that the etiology of this malformation involves failure of fusion of the distal müllerian ducts and arrested septal resorption above the isthmus.

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

    PubMed Central

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

    1986-01-01

    Two-hundred and seventeen patients from a total population of 343 patients with arteriovenous malformations, were managed without surgery. Follow up was for a mean of 10.4 years. Using life survival analyses, there was a 42% risk of haemorrhage, 29% risk of death, 18% risk of epilepsy and a 27% risk of having a neurological handicap by 20 years after diagnosis in unoperated patients. PMID:3958721

  11. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute.

  12. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  13. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

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

  14. [Anorectal malformations: their diagnosis and the initial decisions].

    PubMed

    de Espinosa, H

    1994-05-01

    The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function. PMID:7991806

  15. Gated magnetic resonance imaging of congenital cardiac malformations

    SciTech Connect

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

  16. Heterozygous mutations of OTX2 cause severe ocular malformations.

    PubMed

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

    2005-06-01

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

  17. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

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

    2013-01-01

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

  18. Advances in ultrasound imaging for congenital malformations during early gestation

    PubMed Central

    Rayburn, William F.; Jolley, Jennifer A.; Simpson, Lynn L.

    2015-01-01

    With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18–20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging. PMID:25820190

  19. 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

  20. Transcranial Doppler ultrasonographic changes after treatment for arteriovenous malformations.

    PubMed

    Petty, G W; Massaro, A R; Tatemichi, T K; Mohr, J P; Hilal, S K; Stein, B M; Solomon, R A; Duterte, D I; Sacco, R L

    1990-02-01

    We performed transcranial Doppler ultrasonography on 15 patients with arteriovenous malformations before and after embolization or surgical resection to compare quantitatively the hemodynamic effects of these two treatments. Changes in mean blood velocity and pulsatility index were analyzed in 19 treated feeding arteries. Blood velocity decreased by a mean of 38.1% or 46.5 cm/sec (p less than 0.0001, two-tailed paired t test); decreases were greater for surgically resected arteries (46.2% or 55.9 cm/sec, p less than 0.003) than for embolized arteries (30.8% or 38.0 cm/sec, p less than 0.0003). Pulsatility index increased by a mean of 54.7% or 0.25 (p = 0.0001); increases were greater for surgically resected arteries (65.8% or 0.29, p = 0.0045) than for embolized arteries (44.8% or 0.20, p less than 0.001). The differences in the changes in blood velocity and pulsatility index between treatment groups were not significant. These data demonstrate that embolization results in hemodynamic changes that are qualitatively similar to those occurring after surgical resection of arteriovenous malformations. Transcranial Doppler ultrasonography is a reliable and convenient noninvasive method for monitoring hemodynamic effects of treatments for arteriovenous malformations. PMID:2406994

  1. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  2. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

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

    2013-01-01

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

  3. OBESITY AND THE RISK AND DETECTION OF FETAL MALFORMATIONS

    PubMed Central

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

    2012-01-01

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

  4. Surgical and Endovascular Treatment for Spinal Arteriovenous Malformations

    PubMed Central

    ENDO, Toshiki; ENDO, Hidenori; SATO, Kenichi; MATSUMOTO, Yasushi; TOMINAGA, Teiji

    2016-01-01

    Spinal arteriovenous malformation (AVM) is a broad term that constitutes diverse vascular pathologies. To date, various classification schemes for spinal AVM have been proposed in literature, which helped neurosurgeons understand the pathophysiology of the disease and determine an optimal treatment strategy. To discuss indications and results of surgical and endovascular interventions for spinal AVM, this article refers to the following classification proposed by Anson and Spetzler in 1992: type I, dural arteriovenous fistula (AVF); type II, glomus intramedullary AVM; type III, juvenile malformations; and type IV, perimedullary AVF. In general, complete obliteration of the fistula is a key for better outcome in type I dural and type IV perimedullary AVFs. On the other hand, in type II glomus and type III juvenile malformations, functional preservation, instead of pursuing angiographical cure, is the main goal of the treatment. In such cases, reduction of the shunt flow can alleviate clinical symptoms. Proper management of spinal AVM should start with neurological examination and understanding of angioarchitectures, which provide critical information that guides the indication and modality of intervention. Finally, close collaboration of the microsurgical and endovascular teams are mandatory for successful treatment. PMID:26948701

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

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

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

  6. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  7. Antennal malformations in light ocelli drones of Apis mellifera (Hymenoptera, Apidae).

    PubMed

    Chaud-Netto, J

    2000-02-01

    Malformed antennae of Apis mellifera light ocelli drones were drawn, dissected and mounted permanently on slides containing Canada balsam, in order to count the olfactory discs present in each segment, in comparison with the number of those structures in normal antennae of their brothers. Some drones presented morphological abnormalities in a single segment of the right or left antenna, but others had two or more malformed segments in a same antenna. Drones with malformations in both antennae were also observed. The 4th and 5th flagellum segments were the most frequently affected. In a low number of cases the frequency of olfactory discs in malformed segments did not differ from that one recorded for normal segments. However, in most cases studied, the antennal malformations brought about a significant reduction in the number of olfactory discs from malformed segments.

  8. Behavior of infant Japanese monkeys (Macaca fuscata) with congenital limb malformations during their first three months.

    PubMed

    Nakamichi, M

    1986-07-01

    Locomotion and mother-infant interactions of a severely malformed, a slightly malformed, and a normal infant were observed in a free-ranging group of Japanese monkeys (Macaca fuscata). The severely malformed infant had no feet and had hands consisting of 2 digits. The slightly malformed infant had normal feet and hands consisting of 2 digits. The severely malformed infant was more retarded in development of posture and locomotion than the other infants; however, it developed locomotor patterns appropriate to its defects. All infants spent approximately the same amount of time in contact with their mothers. High mother-infant contact of malformed infants was maintained because their mothers were very attentive and carried and held them. Mothers reared their handicapped infants even though the infants lacked the movement necessary for clinging.

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

    SciTech Connect

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

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  10. Papillary endothelial hyperplasia in association with vascular malformation of the hand.

    PubMed

    Alves, Kristin; Bauer, Andrea; Jupiter, Jesse

    2014-01-01

    Vascular malformations are uncommonly encountered in the hand. This case report involves the unique case of a rapidly enlarging mass associated with a known vascular malformation. Final pathology revealed dense reactive fibrous tissue, with prominent blood vessels, consistent with a venous malformation and associated papillary endothelial hyperplasia. The intraoperative finding of two separately identifiable masses, one fibrotic and one vascular, has not previously been reported.

  11. Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

    PubMed Central

    Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.

    2012-01-01

    Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.

  12. [Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

    PubMed

    Doray, Bérénice

    2014-01-01

    Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects.

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

    PubMed Central

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

    2014-01-01

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

  14. Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation.

    PubMed

    Iwasaki, Tomohiro; Kawai, Hirokazu; Oseki, Koushi; Togashi, Tadayuki; Shioji, Kazuhiko; Yamamoto, Satoshi; Sato, Yoshinobu; Suzuki, Kenji; Toba, Ken; Nomoto, Minoru; Hatakeyama, Katsuyoshi; Aoyagi, Yutaka

    2012-02-01

    A 22-year-old Japanese woman was found to have severe esophageal varices and then suffered from hepatic encephalopathy. She was diagnosed with Budd-Chiari syndrome (BCS) due to hepatic vein (HV) thrombosis accompanied by portal vein thrombosis without inferior vena cava (IVC) obstruction. Latent myeloproliferative neoplasm (MPN) lacking the JAK2-V617F mutation was considered to be the underlying disease. Liver transplantation was strikingly effective for treating the clinical symptoms attributable to portal hypertension. Although thrombosis of the internal jugular vein occurred due to thrombocythemia, which manifested after transplantation despite anticoagulation therapy with warfarin, the thrombus immediately disappeared with the addition of aspirin. Neither thrombosis nor BCS has recurred in more than 4 years since the amelioration of the last thrombotic event, and post-transplant immunosuppression with tacrolimus has not accelerated the progression of MPN. In Japan, IVC obstruction, which was a predominant type of BCS, is suggested to have decreased in incidence with recent improvements in hygiene. The precise diagnosis of BCS and causative underlying diseases should be made with attention to the current trend of the disease spectrum, which fluctuates with environmental sanitation levels. Because the stepwise strategy, including liver transplantation, has been proven effective for patients with pure HV obstruction in Western countries, this strategy should also be validated for utilization in Japan and in developing countries where HV obstruction potentially predominates.

  15. Hydrogeology and simulation of ground-water flow at Arnold Air Force Base, Coffee and Franklin counties, Tennessee

    USGS Publications Warehouse

    Haugh, C.J.; Mahoney, E.N.

    1994-01-01

    The U.S. Air Force at Arnold Air Force Base (AAFB), in Coffee and Franklin Counties, Tennessee, is investigating ground-water contamination in selected areas of the base. This report documents the results of a comprehensive investigation of the regional hydrogeology of the AAFB area. Three aquifers within the Highland Rim aquifer system, the shallow aquifer, the Manchester aquifer, and the Fort Payne aquifer, have been identified in the study area. Of these, the Manchester aquifer is the primary source of water for domestic use. Drilling and water- quality data indicate that the Chattanooga Shale is an effective confining unit, isolating the Highland Rim aquifer system from the deeper, upper Central Basin aquifer system. A regional ground-water divide, approximately coinciding with the Duck River-Elk River drainage divide, underlies AAFB and runs from southwest to northeast. The general direction of most ground-water flow is to the north- west or to the northwest or to the southeast from the divide towards tributary streams that drain the area. Recharge estimates range from 4 to 11 inches per year. Digital computer modeling was used to simulate and provide a better understanding of the ground-water flow system. The model indicates that most of the ground-water flow occurs in the shallow and Manchester aquifers. The model was most sensitive to increases in hydraulic conductivity and changes in recharge rates. Particle-tracking analysis from selected sites of ground-water contamination indicates a potential for contami- nants to be transported beyond the boundary of AAFB.

  16. Late presentation of congenital cystic adenomatoid malformation of the lung

    SciTech Connect

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

    1984-06-01

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

  17. Treatment of vascular malformation of the gastrointestinal tract

    NASA Astrophysics Data System (ADS)

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

    2000-06-01

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

  18. Congenital multi-organ malformations in a Holstein calf.

    PubMed

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed.

  19. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  20. Successful Treatment of Uterine Arteriovenous Malformation due to Uterine Trauma

    PubMed Central

    Ozdemir, Ozgur; Uysal, Aysel; Alparslan, Ahmet Sukru; Gurses, Cemil; Koroglu, Mert

    2016-01-01

    Uterine arteriovenous malformation (AVM) is defined as abnormal and nonfunctional connections between the uterine arteries and veins. Although the patients typically present with vaginal bleeding, some patients may experience life-threatening massive bleeding in some circumstances. The treatment of choice depends on the symptoms, age, desire for future fertility, and localization and size of the lesion; however, embolization of the uterine artery is the first choice in symptomatic AVM in patients at reproductive age with expectations of future fertility. We report a case of acquired AVM (after D/C) with an extensive lesion, which was successfully treated with bilateral uterine artery embolization (UAE).

  1. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  2. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ≈ 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  3. Successful Treatment of Uterine Arteriovenous Malformation due to Uterine Trauma

    PubMed Central

    Ozdemir, Ozgur; Uysal, Aysel; Alparslan, Ahmet Sukru; Gurses, Cemil; Koroglu, Mert

    2016-01-01

    Uterine arteriovenous malformation (AVM) is defined as abnormal and nonfunctional connections between the uterine arteries and veins. Although the patients typically present with vaginal bleeding, some patients may experience life-threatening massive bleeding in some circumstances. The treatment of choice depends on the symptoms, age, desire for future fertility, and localization and size of the lesion; however, embolization of the uterine artery is the first choice in symptomatic AVM in patients at reproductive age with expectations of future fertility. We report a case of acquired AVM (after D/C) with an extensive lesion, which was successfully treated with bilateral uterine artery embolization (UAE). PMID:27699074

  4. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  5. [Microsurgical removal of deep vascular malformations using sonar-stereometry].

    PubMed

    Reinhardt, H F; Horstmann, G A; Gratzl, O

    1991-04-01

    The advantages of a new, dynamic sonar technology in open stereotactic microsurgery are demonstrated by means of three surgical procedures for deep-seated vascular malformations that are not easy of access. With this method, targets can be aimed at without using rigid, obstructive pointing devices as in conventional stereotaxy. On the contrary, it is possible to take advantage of preformed anatomical spaces reaching the lesion most carefully by means of light-weight, free-hand on-target instruments. The spatial information, correlated with a CT data set, is displayed in real time with an accuracy of +/- 1 mm. Additional image data from MR and digital angiography can be used interactively.

  6. Arnold's structural theorem for the thick disk model describes the structure of planetary systems and circumstellar disks

    NASA Astrophysics Data System (ADS)

    Salmin, Vladimir

    2010-05-01

    Ideal hydrodynamics and MHD are widely used in astrophysical models due to not only low viscosity but because of large scale of the systems. These general models allow to describe not only flows of neutral gas and magnetized plasma but evolution of many-body system as well. Our basic idea is to describe cosmic structures by 3D steady Euler equation of ideal fluid flow. According to Arnold's structural theorem, 3D steady Euler equation of ideal incompressible fluid flow has solution with toroidal topology described by divergent free vector field. The minimal energy among all the fields with closed flow lines on 3D sphere has a structure called Hopf field. Stereographic projection of Hopf field into Euclidian space has image as field where flow lines are Villarceau circles lying on tori corresponding to the levels of Bernoulli function. Arnold's structural theorem is also applicable to steady ideal incompressible MHD and steady isentropic or isothermal flow of ideal compressible fluid. We tested Arnold's structural theorem in the 3D hydrodynamic model of thick disk formation. We have shown that optimal level of Bernoulli function corresponding to "optimal torus" exists, and relative surface free energy is minimal at this level. Corresponding inclination of Villarceau circles to accretion plane is ?-4. Beat of oscillations with wave numbers corresponding to structural radii of "optimal torus" lying in accretion plane leads to scaling of "optimal tori" with factor: K = 1 + sin(?-4) ≈ 1.7071.... Set of scaled optimal tori form thick disk with divergence angle to accretion plane ?-4. Considering optimal tori as precursors of planetary orbits, we found coincidence of scaling factors in Dermort's Law for semi-major axis of Solar system K = 1.7002 ± 0.018 and HR8799 system K = 1.68 ± 0.05 with the optimal one. Also, we analyzed the probability distribution of ratios of semi-major axes of neighbor planets in the known multiple-exoplanet systems. We found existence of two

  7. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    PubMed

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. PMID:27209598

  8. CHARGE association in Sweden: malformations and functional deficits.

    PubMed

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

    2005-03-15

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

  9. Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2016-10-01

    After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression. The telencephalic flexure also contributes to a shift of the hippocampus from a dorsal to a ventral position, the early rostral pole of the hippocampus becoming caudal and dorsal becoming ventral. The occipital horn is the most recent recess of the lateral ventricle, hence most vulnerable to anatomic variations that affect the calcarine fissure. Many major malformations include lack of telencephalic flexure (holoprosencephaly, extreme micrencephaly) or dysplastic Sylvian fissure (lissencephalies, hemimegalencephaly, schizencephaly). Although fissures and sulci are genetically programmed, mechanical forces of growth and volume expansion are proposed to be mainly extrinsic (including ventricles) for fissures and intrinsic for sulci. In fetal hydrocephalus, the telencephalic flexure is less affected because ventricular dilatation occurs later in gestation. Flexures can be detected prenatally by ultrasound and fetal magnetic resonance imaging and should be described neuropathologically in cerebral malformations. PMID:27590993

  10. Automatic localization of cerebral cortical malformations using fractal analysis

    NASA Astrophysics Data System (ADS)

    De Luca, A.; Arrigoni, F.; Romaniello, R.; Triulzi, F. M.; Peruzzo, D.; Bertoldo, A.

    2016-08-01

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

  11. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

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

    2013-01-01

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

  12. Risk factors for conal malformations of the heart.

    PubMed

    Tikkanen, J; Heinonen, O P

    1992-01-01

    The possible effect of environmental factors during early pregnancy on the occurrence of conal malformations (CAS) in the offspring was studied in 90 cases and 756 controls. The cases represented all CAS-infants with anomalies such as transposition, Tetralogy of Fallot and truncus arteriosus verified in Finland during 1982 and 1983. The controls were randomly selected from all babies born in the same period. Case and control mothers were interviewed by midwives using a structured questionnaire approximately three months after delivery. Maternal alcohol consumption during the first trimester was more prevalent among CAS-mothers (50.0%) than controls (38.0%), as was maternal upper respiratory infection (33.0/17.7%). Maternal exposure to dyes, lacquers or paints at work during the first trimester showed an adjusted relative odds ratio of 2.9 (95% confidence interval 1.2-7.5) in logistic regression analysis. The risk of CAS was equal in urban and rural areas and not associated with maternal ABO- or Rh-blood groups, smoking, or coffee, tea, acetylsalicylic acid or diazepam consumption. Maternal exposures to plastic raw materials, disinfectants, pesticides, microwave-ovens or video display terminals at work were not factors associated with the risk of conal malformations. PMID:1572431

  13. Automatic localization of cerebral cortical malformations using fractal analysis.

    PubMed

    De Luca, A; Arrigoni, F; Romaniello, R; Triulzi, F M; Peruzzo, D; Bertoldo, A

    2016-08-21

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity. PMID:27444964

  14. PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PubMed Central

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

    2014-01-01

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

  15. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

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

  16. Somatic Activating PIK3CA Mutations Cause Venous Malformation.

    PubMed

    Limaye, Nisha; Kangas, Jaakko; Mendola, Antonella; Godfraind, Catherine; Schlögel, Matthieu J; Helaers, Raphael; Eklund, Lauri; Boon, Laurence M; Vikkula, Miikka

    2015-12-01

    Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2, cause more than half of sporadically occurring unifocal venous malformations (VMs). Here, we report that somatic mutations in PIK3CA, the gene encoding the catalytic p110α subunit of PI3K, cause 54% (27 out of 50) of VMs with no detected TEK mutation. The hotspot mutations c.1624G>A, c.1633G>A, and c.3140A>G (p.Glu542Lys, p.Glu545Lys, and p.His1047Arg), frequent in PIK3CA-associated cancers, overgrowth syndromes, and lymphatic malformation (LM), account for >92% of individuals who carry mutations. Like VM-causative mutations in TEK, the PIK3CA mutations cause chronic activation of AKT, dysregulation of certain important angiogenic factors, and abnormal endothelial cell morphology when expressed in human umbilical vein endothelial cells (HUVECs). The p110α-specific inhibitor BYL719 restores all abnormal phenotypes tested, in PIK3CA- as well as TEK-mutant HUVECs, demonstrating that they operate via the same pathogenic pathways. Nevertheless, significant genotype-phenotype correlations in lesion localization and histology are observed between individuals with mutations in PIK3CA versus TEK, pointing to gene-specific effects. PMID:26637981

  17. Historical aspects of the study of malformations in The Netherlands.

    PubMed

    Baljet, B; Oostra, R J

    1998-05-01

    The collection of malformed ("teratological") specimens of man and other mammals of Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), dating from the beginning of the 19th century, continues to function as a central part of the Department of Anatomy and Embryology in the Academic Medical Center at the University of Amsterdam. Recently, many specimens in the collection were reexamined, using radiographic, CT scan, and MRI methods. In order to provide background information concerning Dutch teratological research and anatomical cabinets, some aspects of the history of Dutch morphology during the 17th-19th centuries are briefly described in this paper. Special attention is paid to the scientific work and cabinet of Frederik Ruijsch (1638-1731), who sold this cabinet to Czar Peter the Great; Bernard Siegfried Albinus (1697-1770); Wouter van Doeveren (1733-1783), Andreas Bonn (1738-1818), and Sebald Justinus Brugmans (1763-1819), who sold or donated parts of their collections of malformed specimens to Leiden University; Petrus Camper (1722-1789) and Jan Bleuland (1756-1838), whose collections are still in the Department of Anatomy at Groningen University and the Departments of Anatomy and Pathology of Utrecht University; and Gerard and Willem Vrolik.

  18. Prenatal exposure to thalidomide, altered vasculogenesis, and CNS malformations.

    PubMed

    Hallene, K L; Oby, E; Lee, B J; Santaguida, S; Bassanini, S; Cipolla, M; Marchi, N; Hossain, M; Battaglia, G; Janigro, D

    2006-09-29

    Malformations of cortical development (MCD) result from abnormal neuronal positioning during corticogenesis. MCD are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to autism and epilepsy. In view of the fact that during development, an appropriate blood supply is necessary to drive organogenesis in other organs, we hypothesized that vasculogenesis plays an important role in brain development and that E15 exposure in rats to the angiogenesis inhibitor thalidomide would cause postnatal MCD. Our results demonstrate that thalidomide inhibits angiogenesis in vitro at concentrations that result in significant morphological alterations in cortical and hippocampal regions of rats prenatally exposed to this vasculotoxin. Abnormal neuronal development was associated with vascular malformations and a leaky blood-brain barrier. Protein extravasation and uptake of fluorescent albumin by neurons, but not glia, was commonly associated with abnormal cortical development. Neuronal hyperexcitability was also a hallmark of these abnormal cortical regions. Our results suggest that prenatal vasculogenesis is required to support normal neuronal migration and maturation. Altering this process leads to failure of normal cerebrovascular development and may have a profound implication for CNS maturation.

  19. Post-mortem cytogenomic investigations in patients with congenital malformations.

    PubMed

    Dias, Alexandre Torchio; Zanardo, Évelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Novo-Filho, Gil Monteiro; Montenegro, Marilia Moreira; Nascimento, Amom Mendes; Rocha, Mariana; Madia, Fabricia Andreia Rosa; Costa, Thais Virgínia Moura Machado; Milani, Cintia; Schultz, Regina; Gonçalves, Fernanda Toledo; Fridman, Cintia; Yamamoto, Guilherme Lopes; Bertola, Débora Romeo; Kim, Chong Ae; Kulikowski, Leslie Domenici

    2016-08-01

    Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p11.32); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. PMID:27450648

  20. Cardiovascular malformations and organic solvent exposure during pregnancy in Finland

    SciTech Connect

    Tikkanen, J.; Heinonen, O.P.

    1988-01-01

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

  1. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452

  2. 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.

  3. Mortality among infants with congenital malformations, New York State, 1983 to 1988.

    PubMed Central

    Druschel, C; Hughes, J P; Olsen, C

    1996-01-01

    OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

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

    SciTech Connect

    Ramer, J.C.; Ladda, R.L.; Lin, A.E.

    1995-07-03

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

  5. Spontaneous expulsion of decidualized pseudopolyps in pregnant women with uterine malformation.

    PubMed

    Gangemi, O; Petrone, M; Crivelli, F

    1987-01-01

    Two cases concerning expulsion of decidualized polyps in early pregnancy associated with uterine malformation are described. The authors discuss the differential diagnosis between the expulsion of cervical polyps during pregnancy and the ectopic pregnancy associated with polyposis. They suggest that a spontaneous expulsion of polyps or pseudopolyps during early pregnancy may be a sign of the presence of uterine malformation.

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

    EPA Science Inventory

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

  7. Increased Number of White Matter Lesions in Patients with Familial Cerebral Cavernous Malformations

    PubMed Central

    Golden, Michael J.; Morrison, Leslie A.; Kim, Helen; Hart, Blaine L.

    2015-01-01

    BACKGKROUND AND PURPOSE Familial cerebral cavernous malformations, an autosomal dominant disorder, result in excess morbidity and mortality in affected patients. The disorder is most prevalent in the Southwest United States, where the affected families are most often carriers of the CCM1-KRIT1 Common Hispanic Mutation. The brain and spinal cord parenchyma in these individuals is usually affected by multiple cavernous malformations. Previous studies have shown abnormalities of endothelial cell junctions and the blood-brain barrier in cerebral cavernous malformations. Endothelial cell abnormalities have also been described in pathologic studies of white matter hyperintensities. We compared the prevalence of white matter hyperintensities in a population with known familial cerebral cavernous malformations. MATERIALS AND METHODS We examined 191 subjects with familial cerebral cavernous malformations who were enrolled into an institutional review board-approved study. All carry the same Common Hispanic Mutation in the CCM1 gene. Each subject underwent 3TMR imaging, including gradient recalled-echo, SWI, and FLAIR sequences. The number of cavernous malformations and the number of nonhemorrhagic white matter hyperintensities were counted. Subjects older than 60 yearsof age were excluded due to the high prevalence of white matter lesions in this population, and children younger than 6 were excluded due to potential sedation requirements. Logistic regression analysis was performed to determine the prevalence of abnormal white matter hyperintensities in those with familial cerebral cavernous malformations compared with healthy controls or those with sporadic cerebral cavernous malformation within the familial cerebral cavernous malformations group; it was also performed to evaluate the associations between abnormal white matter hyperintensities and age, sex, headaches, thyroid disease, diabetes, hypertension, hyperlipidemia, seizure history, or modified Rankin Scale score

  8. Instillation of alcohol into venous malformations of the head and neck.

    PubMed

    Svendsen, P; Wikholm, G; Fogdestam, I; Naredi, S; Edén, E

    1994-12-01

    Vascular malformations are errors of vascular morphogenesis, and must be differentiated from vascular tumours such as haemangiomas, because the natural history and treatment are different. Vascular malformations may be arteriovenous with high blood flow, or venous with low blood flow. Venous vascular malformations grow among soft tissues and are difficult to delineate at operation. Direct puncture under fluoroscopy with injection of contrast medium is one method of visualising the cavities of a venous malformation. Instillation of concentrated alcohol directly into such cavities is a possible treatment. Forty-four patients with venous malformations of the head or neck have been treated since 1984, of whom 31 responded to a follow up questionnaire. Twenty-three responded to injection of ethanol alone, and eight also required reconstructive surgery; 26 of the 31 described the result as "good" or "excellent" (84%).

  9. Radionuclide-labeled red blood cell imaging of vascular malformations in children

    SciTech Connect

    Sloan, G.M.; Bolton, L.L.; Miller, J.H.; Reinisch, J.F.; Nichter, L.S.

    1988-09-01

    Vascular malformations, particularly in the absence of cutaneous changes, can be difficult to distinguish from other soft tissue masses in children. We have used technetium-99m-labeled red blood cell scintigraphy to study 47 lesions in 43 children. Thirty-nine lesions showed increased flow and were, therefore, diagnosed as vascular malformations. Subsequent biopsy of 10 of these lesions confirmed that diagnosis. The other 29 lesions with increased flow were followed for 10 months to 5 years and the clinical course was consistent with vascular malformation in every case. Eight lesions showed no increased flow on technetium scan. One of these subsequently proved to be a hemangioma. The others have turned out not to be vascular malformations. Therefore, in our experience, the technetium-99m-labeled red blood cell scan has had 98% sensitivity and 100% specificity in diagnosing vascular malformations in children.

  10. Mango (Mangifera indica L.) malformation: a malady of stress ethylene origin.

    PubMed

    Ansari, Mohammad W; Rani, Varsha; Shukla, Alok; Bains, Gurdeep; Pant, Ramesh C; Tuteja, Narendra

    2015-01-01

    Mango malformation is a major constrain in mango production worldwide causing heavy economic losses depending on cultivar type and susceptibility. The malady has variously been ascribed to be acarological, viral, fungal and physiological in nature. Here, we discuss the ethylene origin nature of malady. There are indications that most of the symptoms of mango malformation resemble with those of caused by ethylene effects. Multiple evidence reports of putative causal agents including Fusarium mangiferae to augment the endogenous pool of 'stress ethylene' are well documented. Therefore, over load of 'stress ethylene' impairs morphology malformed tissue and cyanide derived from ethylene biosynthesis causes necrosis and death of malformed cells. This review covers various factors eliciting 'stress ethylene' formation, role of ethylene in development of malady and regulation of ethylene action to reduce malformation in mango. PMID:25648881

  11. Treatment of hematuria caused by renal arteriovenous malformation in pregnant patients

    PubMed Central

    Chen, Yuedong; Liu, Fei; Xing, Jinchun; Liu, Rongfu

    2015-01-01

    This study is to investigate hematuria in pregnant patients caused by renal arteriovenous malformation and to evaluate the efficacy of superselective renal angiography and embolization used for treatment of renal arteriovenous malformation. Two cases of hematuria in pregnant patients caused by renal arteriovenous malformation were enrolled. Case 1 was a 28-year-old woman with repeatedly intermittent hematuria at week 7 during gestation. Case 2 was a 30-year-old woman with repeatedly intermittent hematuria at week 8 during gestation. B ultrasound and CT were performed to detect hydronephrosis. Renal arteriovenous malformation was diagnosed by selective angiography. Both the patients were treated with embolization. The 2 cases were successfully embolized with different materials including gelfoam and coils. Both of the 2 patients were recovered well and discharged successful after the operation. In conclusion, superselective renal angiography and embolization are effective methods for diagnosis and treatment of renal arteriovenous malformation in pregnant patients. PMID:25932278

  12. Mango (Mangifera indica L.) malformation: a malady of stress ethylene origin.

    PubMed

    Ansari, Mohammad W; Rani, Varsha; Shukla, Alok; Bains, Gurdeep; Pant, Ramesh C; Tuteja, Narendra

    2015-01-01

    Mango malformation is a major constrain in mango production worldwide causing heavy economic losses depending on cultivar type and susceptibility. The malady has variously been ascribed to be acarological, viral, fungal and physiological in nature. Here, we discuss the ethylene origin nature of malady. There are indications that most of the symptoms of mango malformation resemble with those of caused by ethylene effects. Multiple evidence reports of putative causal agents including Fusarium mangiferae to augment the endogenous pool of 'stress ethylene' are well documented. Therefore, over load of 'stress ethylene' impairs morphology malformed tissue and cyanide derived from ethylene biosynthesis causes necrosis and death of malformed cells. This review covers various factors eliciting 'stress ethylene' formation, role of ethylene in development of malady and regulation of ethylene action to reduce malformation in mango.

  13. Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study

    PubMed Central

    Gokhroo, Rajendra K; Gupta, Sajal; Arora, Garima; Bisht, Devendra S; Padmanabhan, Deepak; Soni, Varsha

    2015-01-01

    Background The association of congenital heart disease (CHD) with malformations of the gastrointestinal (GI) tract/abdominal wall is known. The rates of cardiac malformations reported in previous studies of these anomalies are highly variable. Objective To find the prevalence and pattern of CHD in patients with major gastrointestinal malformations (anorectal malformations, oesophageal atresia/tracheo-oesophageal fistula, and omphalocoele) undergoing surgery at a tertiary care hospital in India. Methods From July 2012 to December 2013, 43 patients (34 (79%) male, 9 (21%) female) were evaluated by clinical examination, ECG, chest radiography, and colour Doppler echocardiography. Results Of the 43 patients, 26 (60.46%) had CHD. The most common GI malformation was anorectal malformation: 32 cases (74.41%), of whom 16 (50%) had CHD. The second most common malformation was oesophageal atresia/tracheo-oesophageal fistula: 5 cases (11.62%), all (100%) with CHD. The third group comprised patients with omphalocoele: 4 cases (9.3%), 3 of whom (75%) had CHD. The fourth group comprised patients with VACTERAL (vertebral anomalies, anal atresia, cardiovascular malformations, tracheo-oesophageal fistula, renal and limb anomalies) association—2 cases (4.6%), all (100%) with CHD. The most common CHD was isolated atrial septal defect (ASD) (73%), followed by ASD + ventricular septal defect (VSD) + patent ductus arteriosus (PDA) (7.6%), ASD + VSD (3.8%), ASD + PDA (3.8%), VSD (3.8%), PDA (3.8%), and coarctation of the aorta (3.8%). Conclusions We found the frequency of CHD in patients with GI malformations was very high, the most common presentation being ASD. Our study indicates the need for larger scale studies to determine the prevalence of CHD in patients with GI malformations in the Indian population. PMID:27326210

  14. 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.

  15. An arteriovenous malformation of the external ear in the pediatric population: A case report and review of the literature

    PubMed Central

    Whitty, Lisa A; Murray, John D; Null, W Edward; Elwood, Eric T; Jones, Glyn E

    2009-01-01

    The literature regarding arteriovenous malformations of the external ear is sparse. A case of a patient clinically diagnosed with an arteriovenous malformation of the external ear that was managed empirically with surgical excision, without recurrence, is presented. The pathogenesis, clinical presentation, radiological work up and management options regarding arteriovenous malformations are reviewed. PMID:21119835

  16. Anomalous diffusion of field lines and charged particles in Arnold-Beltrami-Childress force-free magnetic fields

    NASA Astrophysics Data System (ADS)

    Ram, Abhay K.; Dasgupta, Brahmananda; Krishnamurthy, V.; Mitra, Dhrubaditya

    2014-07-01

    The cosmic magnetic fields in regions of low plasma pressure and large currents, such as in interstellar space and gaseous nebulae, are force-free in the sense that the Lorentz force vanishes. The three-dimensional Arnold-Beltrami-Childress (ABC) field is an example of a force-free, helical magnetic field. In fluid dynamics, ABC flows are steady state solutions of the Euler equation. The ABC magnetic field lines exhibit a complex and varied structure that is a mix of regular and chaotic trajectories in phase space. The characteristic features of field line trajectories are illustrated through the phase space distribution of finite-distance and asymptotic-distance Lyapunov exponents. In regions of chaotic trajectories, an ensemble-averaged variance of the distance between field lines reveals anomalous diffusion—in fact, superdiffusion—of the field lines. The motion of charged particles in the force-free ABC magnetic fields is different from the flow of passive scalars in ABC flows. The particles do not necessarily follow the field lines and display a variety of dynamical behavior depending on their energy, and their initial pitch-angle. There is an overlap, in space, of the regions in which the field lines and the particle orbits are chaotic. The time evolution of an ensemble of particles, in such regions, can be divided into three categories. For short times, the motion of the particles is essentially ballistic; the ensemble-averaged, mean square displacement is approximately proportional to t2, where t is the time of evolution. The intermediate time region is defined by a decay of the velocity autocorrelation function—this being a measure of the time after which the collective dynamics is independent of the initial conditions. For longer times, the particles undergo superdiffusion—the mean square displacement is proportional to tα, where α > 1, and is weakly dependent on the energy of the particles. These super-diffusive characteristics, both of magnetic

  17. Anomalous diffusion of field lines and charged particles in Arnold-Beltrami-Childress force-free magnetic fields

    SciTech Connect

    Ram, Abhay K.; Dasgupta, Brahmananda; Krishnamurthy, V.; Mitra, Dhrubaditya

    2014-07-15

    The cosmic magnetic fields in regions of low plasma pressure and large currents, such as in interstellar space and gaseous nebulae, are force-free in the sense that the Lorentz force vanishes. The three-dimensional Arnold-Beltrami-Childress (ABC) field is an example of a force-free, helical magnetic field. In fluid dynamics, ABC flows are steady state solutions of the Euler equation. The ABC magnetic field lines exhibit a complex and varied structure that is a mix of regular and chaotic trajectories in phase space. The characteristic features of field line trajectories are illustrated through the phase space distribution of finite-distance and asymptotic-distance Lyapunov exponents. In regions of chaotic trajectories, an ensemble-averaged variance of the distance between field lines reveals anomalous diffusion—in fact, superdiffusion—of the field lines. The motion of charged particles in the force-free ABC magnetic fields is different from the flow of passive scalars in ABC flows. The particles do not necessarily follow the field lines and display a variety of dynamical behavior depending on their energy, and their initial pitch-angle. There is an overlap, in space, of the regions in which the field lines and the particle orbits are chaotic. The time evolution of an ensemble of particles, in such regions, can be divided into three categories. For short times, the motion of the particles is essentially ballistic; the ensemble-averaged, mean square displacement is approximately proportional to t{sup 2}, where t is the time of evolution. The intermediate time region is defined by a decay of the velocity autocorrelation function—this being a measure of the time after which the collective dynamics is independent of the initial conditions. For longer times, the particles undergo superdiffusion—the mean square displacement is proportional to t{sup α}, where α > 1, and is weakly dependent on the energy of the particles. These super-diffusive characteristics

  18. Three dimensional magnetohydrodynamic simulation of linearly polarised Alfven wave dynamics in Arnold-Beltrami-Childress magnetic field

    NASA Astrophysics Data System (ADS)

    Tsiklauri, David

    2015-04-01

    Previous studies (e.g., Malara et al., Astrophys. J. 533, 523 (2000)) considered small-amplitude Alfven wave (AW) packets in Arnold-Beltrami-Childress (ABC) magnetic field using WKB approximation. They draw a distinction between 2D AW dissipation via phase mixing and 3D AW dissipation via exponentially divergent magnetic field lines. In the former case, AW dissipation time scales as S 1/3 and in the latter as log(S) , where S is the Lundquist number. In this work [1], linearly polarised Alfven wave dynamics in ABC magnetic field via direct 3D magnetohydrodynamic (MHD) numerical simulation is studied for the first time. A Gaussian AW pulse with length-scale much shorter than ABC domain length and a harmonic AW with wavelength equal to ABC domain length are studied for four different resistivities. While it is found that AWs dissipate quickly in the ABC field, contrary to an expectation, it is found the AW perturbation energy increases in time. In the case of the harmonic AW, the perturbation energy growth is transient in time, attaining peaks in both velocity and magnetic perturbation energies within timescales much smaller than the resistive time. In the case of the Gaussian AW pulse, the velocity perturbation energy growth is still transient in time, attaining a peak within few resistive times, while magnetic perturbation energy continues to grow. It is also shown that the total magnetic energy decreases in time and this is governed by the resistive evolution of the background ABC magnetic field rather than AW damping. On contrary, when the background magnetic field is uniform, the total magnetic energy decrease is prescribed by AW damping, because there is no resistive evolution of the background. By considering runs with different amplitudes and by analysing the perturbation spectra, possible dynamo action by AW perturbation-induced peristaltic flow and inverse cascade of magnetic energy have been excluded. Therefore, the perturbation energy growth is attributed

  19. Three dimensional magnetohydrodynamic simulation of linearly polarised Alfven wave dynamics in Arnold-Beltrami-Childress magnetic field

    SciTech Connect

    Tsiklauri, D.

    2014-05-15

    Previous studies (e.g., Malara et al., Astrophys. J. 533, 523 (2000)) considered small-amplitude Alfven wave (AW) packets in Arnold-Beltrami-Childress (ABC) magnetic field using WKB approximation. They draw a distinction between 2D AW dissipation via phase mixing and 3D AW dissipation via exponentially divergent magnetic field lines. In the former case, AW dissipation time scales as S{sup 1∕3} and in the latter as log(S), where S is the Lundquist number. In this work, linearly polarised Alfven wave dynamics in ABC magnetic field via direct 3D magnetohydrodynamic (MHD) numerical simulation is studied for the first time. A Gaussian AW pulse with length-scale much shorter than ABC domain length and a harmonic AW with wavelength equal to ABC domain length are studied for four different resistivities. While it is found that AWs dissipate quickly in the ABC field, contrary to an expectation, it is found the AW perturbation energy increases in time. In the case of the harmonic AW, the perturbation energy growth is transient in time, attaining peaks in both velocity and magnetic perturbation energies within timescales much smaller than the resistive time. In the case of the Gaussian AW pulse, the velocity perturbation energy growth is still transient in time, attaining a peak within few resistive times, while magnetic perturbation energy continues to grow. It is also shown that the total magnetic energy decreases in time and this is governed by the resistive evolution of the background ABC magnetic field rather than AW damping. On contrary, when the background magnetic field is uniform, the total magnetic energy decrease is prescribed by AW damping, because there is no resistive evolution of the background. By considering runs with different amplitudes and by analysing the perturbation spectra, possible dynamo action by AW perturbation-induced peristaltic flow and inverse cascade of magnetic energy have been excluded. Therefore, the perturbation energy growth is

  20. Studies on Budd-chiari syndrome complicated with hepatocellular carcinoma: most patients without inferior vena cava obstruction

    PubMed Central

    Dang, Xiaowei; Li, Luhao; Li, Suxin; Wang, Yafei; Li, Hai; Xu, Shaokai; Xu, Peiqin

    2015-01-01

    Background: To investigate the characteristics of Budd-Chiari syndrome (B-CS) types, rate of HCC complicated by different types of B-CS and values of CTA in diagnosis of B-CS and HCC complicated by B-CS. Material and Methods: 494 patients with B-CS were analyzed retrospectively. All patients underwent CTA, which was used to assess the accuracy of diagnosing B-CS and the rate of HCC complicated by various kinds of B-CS. Digital subtraction angiography (DSA) and pathological examination were used as gold standard. Results: Among 494 patients diagnosed by DSA, there were 21 (4.3%) cases of inferior vena cava type, 80 (16.2%) cases of hepatic vein type and 393 (79.6%) cases of hepatic vein combined with inferior vena cava complex type. The accuracy of diagnosing B-CS by CTA was 86.6% (428/494), in which the accuracy of diagnosing inferior vena cava type was 85.7% (18/21), 83.8% (67/80) for hepatic vein type and 87.3% (343/393) for complex type. The rate of HCC complicated by B-CS was 12.8% (63/494), among which inferior vena cava type was 4.8% (1/21), hepatic vein type was 11.3% (9/80) and complex type was 13.5% (53/393). There were no statistic differences between these three types (P=0.459). The accuracy of diagnosing HCC by CTA was 82.5% (52/63). Conclusion: B-CS in patients from China’s Yellow River basin is mainly hepatic vein combined with inferior vena cava complex type, which is more likely to be complicated by HCC. CTA plays an important role in diagnosing B-CS and HCC complicated by B-CS. PMID:26309561

  1. Prevalence of Budd-Chiari Syndrome during Pregnancy or Puerperium: A Systematic Review and Meta-Analysis

    PubMed Central

    Ren, Weirong; Li, Xiang; Jia, Jia; Xia, Yan; Hu, Fengrong; Xu, Zhengyu

    2015-01-01

    Women during pregnancy or puerperium are likely to develop Budd-Chiari syndrome (BCS). However, the reported prevalence of pregnancy-related BCS varied considerably among studies. Our study aims to systematically review this issue. Overall, 817 papers were initially identified via the PubMed, EMBASE, China National Knowledge Infrastructure, and Chinese Scientific and Technological Journal databases. Twenty of them were eligible. The prevalence of pregnancy-related BCS varied from 0% to 21.5%. The pooled prevalence was 6.8% (95% CI: 3.9–10.5%) in all BCS patients, 6.3% (95% CI: 3.8–9.4%) in primary BCS patients, and 13.1% (95% CI: 7.1–20.7%) in female BCS patients. Among them, one study was carried out in Africa with a prevalence of 10.6%; 14 studies in Asian countries with a pooled prevalence of 7.1% (95% CI: 3.1–12.6%); and 5 studies in European countries with a pooled prevalence of 5.0% (95% CI: 3.1–7.3%). The pooled prevalence was 6.7% (95% CI: 2.6–12.3%) in studies published before 2005 and 7.3% (95% CI: 4.2–12.5%) in those published after 2005. In conclusion, pregnancy is a relatively common risk factor for BCS, but there is a huge variation in the prevalence among studies. Physicians should be aware of pregnancy-related BCS. PMID:26457079

  2. Cardiopulmonary malformations in the inv/inv mouse.

    PubMed

    McQuinn, T C; Miga, D E; Mjaatvedt, C H; Phelps, A L; Wessels, A

    2001-05-01

    The inv/inv mouse carries an insertional mutation in the inversin gene, (inv, for inversion of embryonic turning). Previously it had been reported that almost 100% of the homozygous offspring (inv/inv) were characterized by situs inversus totalis. In this report we identify the spectrum of cardiopulmonary anatomical abnormalities in inv/inv mice surviving to birth to determine whether the abnormalities seen are of the categories classically associated with human situs abnormalities. Stillborn mice, offspring that died unexpectedly (within 48 hr after birth), and neonates with phenotypic characteristics of situs inversus (right-sided stomachs, growth failure or jaundice) were processed for standard histological examination. Of 173 offspring, 34 (20%) neonates (11 stillborn, 9 unexpected deaths, and 14 mice with situs inversus phenotype) were examined, 27 of which were genotyped to be inv/inv. Interestingly, three inv/inv mice (11%) were found to have situs solitus. Twenty-four had situs inversus with normal, mirror-image cardiac anatomy (dextrocardia with atrioventricular concordance, ventriculoarterial concordance and a right aortic arch). The overall incidence of cardiovascular anomalies observed was 10 out of 27 (37%). The most frequent severe malformation, identified in 3 out of 27 animals, was a complex consisting of pulmonary infundibular stenosis/atresia with absence of pulmonary valve tissue and a ventricular septal defect. The pulmonary phenotype in inv/inv mice was situs inversus with occasional minor lobar abnormalities. We conclude that 1) cardiopulmonary malformations in inv/inv mice are not rare (37%), 2) the cardiopulmonary malformations observed in inv/inv specimens are not of the spectrum typically associated with human heterotaxia. In particular, inv/inv mice have a propensity for defects in the development of the right ventricular outflow tract and the interventricular septum, and 3) approximately one out of ten inv/inv mice is born with situs

  3. Type II congenital pulmonary airway malformation in an esophageal lung

    PubMed Central

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

    2013-01-01

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

  4. Quantification of intracerebral steal in patients with arteriovenous malformation

    SciTech Connect

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

    1986-08-01

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

  5. Hemorrhagic collision metastasis in a cerebral arteriovenous malformation

    PubMed Central

    Sundarakumar, Dinesh K; Marshall, Desiree A; Keene, C Dirk; Rockhill, Jason K; Margolin, Kim A; Kim, Louis J

    2014-01-01

    A 26-year-old patient with recurrent choriocarcinoma of the testis presented with headache and progressive left homonymous hemianopsia. On initial MRI a grade 4 arteriovenous malformation (AVM) was identified in the right occipital lobe, which was further characterized by catheter angiography. Continued worsening of the headache in the following days prompted a follow-up MRI, which revealed a new T2 hypointense nodule and adjacent vasogenic edema in the periphery of the AVM. A follow-up MRI showed a marked increase in the size of the nodule with intrinsic enhancement and worsening perilesional edema. Based on the imaging evolution, the nodule was diagnosed as a metastasis and the patient was started on chemotherapy and radiotherapy. One week after the MRI he developed a sudden hemorrhage within the mass requiring decompression craniectomy and resection of both AVM and tumor. The histopathology of the resected mass confirmed the diagnosis of choriocarcinoma metastasis to the AVM. PMID:25239982

  6. Amphibian ocular malformation associated with frog virus 3.

    PubMed

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

    2008-09-01

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

  7. A giant frontal cavernous malformation with review of literature.

    PubMed

    Sharma, Arvind; Mittal, Radhey Shyam

    2016-01-01

    Cavernous malformations (CMs) are vascular anomalies with dilated spaces called caverns. These spaces are lined by endothelial cells and collage and devoid of smooth muscle or intervening neural tissue, and filled with blood at various stages of stasis, thrombosis, organization, and calcification. Most CMs are relatively small in size but when they are large enough they can produce sing of mass effect and may simulate neoplastic, vascular, inflammatory pathology. Giant CM (size >6 cm) are very rare lesions and very few cases are reported in world literature. We are reporting such a rare case of a 16 year male. Our case is also unique in the sense that it is the largest reported CM in Indian population.

  8. Experiences in managing arteriovenous malformations of the head and neck.

    PubMed

    McMillan, Kevin; Dunphy, Louise; Nishikawa, Hiroshi; Monaghan, Andrew

    2016-07-01

    Arteriovenous malformations of the head and neck are difficult to treat and require a multidisciplinary approach. Interventional radiology can now be used to downgrade previously inoperable lesions to enable ablation, and the use of Onyx® (Covidien, Irvine, CA, USA), which has revolutionised their management by allowing precise obliteration of the nidus, has enabled the aggressive management of lesions in compromised anatomical areas. We report a series of 31 patients with lesions on the head and neck. They all presented with serious symptoms (Schobinger grade 2-3) and had embolisation with Onyx®. Some had additional operations. We describe the outcome including complications, and offer some lessons learned from our experience. PMID:27066717

  9. Periodontal manifestations and management of a patient with AV malformation.

    PubMed

    Narang, Sumit; Gupta, Ruby; Narang, Anu; Nema, Ram Narayan

    2012-04-01

    Arterio-venous malformation (AVM) is an abnormal communication between an artery and a vein. The incidence of its occurrence in oral and maxillofacial region is rare, and if present, the most common sign is gingival bleeding. A 12-year-old female patient presented with an extra oral swelling in relation with upper lip. Intra oral examination showed non tender gingival swelling with spontaneous bleeding associated with maxillary arch. On initiation of phase I therapy using hand instruments, spontaneous brisk bleeding was encountered which was difficult to control. Because of severe nature of hemorrhage encountered, some type of vascular abnormality was suspected. Ultrasonography followed by angiography confirmed AVM in relation with upper lip. Embolization of lesion was followed by gingivectomy procedure and no recurrence was reported during one year of follow-up. Thus, proper recognition and therapeutic intervention is essential to avoid serious complications and potentially tragic outcome in such situations.

  10. Vaginal vascular malformation mimicking pelvic organ prolapse requiring serial embolizations.

    PubMed

    Pue, Leng Boi; Lo, Tsia-Shu; Wu, Pei-Ying

    2013-11-01

    Vaginal vascular malformation (VVM) is rare. There are, in fact, less than ten cases reported to date. VVM often presents as a mass protruding from the vagina, mimicking pelvic organ prolapse (POP). It can coexist with POP, thereby usually exaggerating the severity of POP. We report a case of VVM in a premenopausal woman who presented as severe POP and urinary incontinence. The diagnosis was confirmed with computed tomography (CT) scan and angiography. The patient underwent conservative management with embolization. These procedures had to be repeated three times in 1.5 years due to lesion recurrence. In mitigation, conservative treatment eliminates the risks associated with surgery, e.g. massive hemorrhage and visceral injuries. It does, however, require a long course of treatment and follow-up.

  11. Vascular changes in hard palate sialolipoma: Sialoangiolipoma or vascular malformation?

    PubMed Central

    Handra-Luca, Adriana

    2015-01-01

    Palate sialolipomas are rare. Less than 10 cases located in the hard palate are reported to our knowledge. We report a case of hard palate sialolipoma, peculiar by the intratumor vascular patterns. A 67-year-old man presented with a 1.5 cm lesion of the oral hard palate. The lesion was surgically resected. On microscopy, the lesion, partly encapsulated, consisted of a proliferation of mature adipocytes containing normal minor salivary gland tissue and branching intratumoral vessels of varied size with irregularly thickened wall and papillary projections or tufts. The microscopic features of the tumor we report suggest that vascular malformation-like patterns may occur in sialolipomas of the hard palate. This morphological vascular peculiarity should be acknowledged since it may represent source of hemorrhage. PMID:26604516

  12. Histopathological Features of Brain Arteriovenous Malformations in Japanese Patients

    PubMed Central

    HERMANTO, Yulius; TAKAGI, Yasushi; YOSHIDA, Kazumichi; ISHII, Akira; KIKUCHI, Takayuki; FUNAKI, Takeshi; MINEHARU, Yohei; MIYAMOTO, Susumu

    2016-01-01

    Clinical features of high risk brain arteriovenous malformations (BAVMs) are well characterized. However, pathological evidences about the differences that are possessed by high risk patients are still lacking. We reviewed archived routine hematoxylin-eosin specimens from a total of 54 surgical treated BAVMs. The histopathological features in nidus were semi-quantitatively analyzed. We obtained the pathological differences of BAVMs nidus between several clinical features. Among the analyzed pathological features, the significant differences were observed in degree of venous enlargement and intimal hyperplasia. Juvenile, female, diffuse nidus, high Spetzler-Martin grade, and low flow patients had a lesser degree of those parameters compared to adult, male, compact nidus, low Spetzler-Martin grade and high flow patients. High risk profiles of BAVMs patients were well-reflected in the nidus pathology. Therefore, juvenile, female, diffuse nidus, and low flow in Japanese BAVMs patients might have different vascular remodeling process that predispose to higher tendency of hemorrhage. PMID:27053330

  13. A giant frontal cavernous malformation with review of literature

    PubMed Central

    Sharma, Arvind; Mittal, Radhey Shyam

    2016-01-01

    Cavernous malformations (CMs) are vascular anomalies with dilated spaces called caverns. These spaces are lined by endothelial cells and collage and devoid of smooth muscle or intervening neural tissue, and filled with blood at various stages of stasis, thrombosis, organization, and calcification. Most CMs are relatively small in size but when they are large enough they can produce sing of mass effect and may simulate neoplastic, vascular, inflammatory pathology. Giant CM (size >6 cm) are very rare lesions and very few cases are reported in world literature. We are reporting such a rare case of a 16 year male. Our case is also unique in the sense that it is the largest reported CM in Indian population. PMID:27114662

  14. Hemorrhagic collision metastasis in a cerebral arteriovenous malformation.

    PubMed

    Sundarakumar, Dinesh K; Marshall, Desiree A; Keene, C Dirk; Rockhill, Jason K; Margolin, Kim A; Kim, Louis J

    2014-01-01

    A 26-year-old patient with recurrent choriocarcinoma of the testis presented with headache and progressive left homonymous hemianopsia. On initial MRI a grade 4 arteriovenous malformation (AVM) was identified in the right occipital lobe, which was further characterized by catheter angiography. Continued worsening of the headache in the following days prompted a follow-up MRI, which revealed a new T2 hypointense nodule and adjacent vasogenic edema in the periphery of the AVM. A follow-up MRI showed a marked increase in the size of the nodule with intrinsic enhancement and worsening perilesional edema. Based on the imaging evolution, the nodule was diagnosed as a metastasis and the patient was started on chemotherapy and radiotherapy. One week after the MRI he developed a sudden hemorrhage within the mass requiring decompression craniectomy and resection of both AVM and tumor. The histopathology of the resected mass confirmed the diagnosis of choriocarcinoma metastasis to the AVM. PMID:25239982

  15. Hemorrhagic collision metastasis in a cerebral arteriovenous malformation.

    PubMed

    Sundarakumar, Dinesh K; Marshall, Desiree A; Keene, C Dirk; Rockhill, Jason K; Margolin, Kim A; Kim, Louis J

    2015-10-01

    A 26-year-old patient with recurrent choriocarcinoma of the testis presented with headache and progressive left homonymous hemianopsia. On initial MRI a grade 4 arteriovenous malformation (AVM) was identified in the right occipital lobe, which was further characterized by catheter angiography. Continued worsening of the headache in the following days prompted a follow-up MRI, which revealed a new T2 hypointense nodule and adjacent vasogenic edema in the periphery of the AVM. A follow-up MRI showed a marked increase in the size of the nodule with intrinsic enhancement and worsening perilesional edema. Based on the imaging evolution, the nodule was diagnosed as a metastasis and the patient was started on chemotherapy and radiotherapy. One week after the MRI he developed a sudden hemorrhage within the mass requiring decompression craniectomy and resection of both AVM and tumor. The histopathology of the resected mass confirmed the diagnosis of choriocarcinoma metastasis to the AVM. PMID:25261441

  16. Kernohan's phenomenon associated with left ruptured occipital arteriovenous malformation.

    PubMed

    Fujimoto, A; Sato, H; Katayama, W; Nakai, K; Tsunoda, T; Kobayashi, E; Nose, T

    2004-05-01

    A 23-year-old woman presented with ipsilateral hemiparesia due to rupture of a left occipital arteriovenous malformation (AVM). Emergency decompression (the onset-operation interval was 46 minutes,) was carried out and the patient could leave the hospital upon recovery without neurological deficits. In general, Kernohan's phenomenon is caused by the gradual displacement of the cerebral peduncle against the tentorial edge caused by compression by the contralateral mass. This phenomenon is very rare among the cases with spontaneous intracranial hemorrhage and only three cases including the present one have been reported in the literature. In all cases the onset-operation intervals of were very short. Kernohan's phenomenon associated with a ruptured AVM is a rare condition and emergency decompression is required. PMID:15080971

  17. Blood flow changes in arteriovenous malformation during behavioral activation.

    PubMed

    Deutsch, G

    1983-01-01

    Striking task-dependent fluctuations were observed in the cerebral blood flow pattern of a patient with a left posterior hemispheric arteriovenous malformation (AVM). Two-dimensional measures of regional cerebral flow in the resting state, using the xenon 133 inhalation technique, revealed a region of high flow coincident with the AVM seen on the patient's arteriograms. In subsequent studies, the AVM stood out as a region of high blood flow during a relaxed state, while it approached normal levels of flow when there was attentional demand. These observations suggest that focal regulatory mechanisms exist at the AVM or else that very substantial redistributions of blood flow are taking place which the flow rate in the AVM reflects only passively. Patients considered for embolic treatment of an AVM would benefit from an assessment of behavioral influences on flow in the AVM.

  18. Advanced echocardiographic imaging of the congenitally malformed heart.

    PubMed

    Black, D; Vettukattil, J

    2013-08-01

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

  19. Pulmonary Malformations: Predictors of Neonatal Respiratory Distress and Early Surgery

    PubMed Central

    Costanzo, Sara; Filisetti, Claudia; Vella, Claudio; Rustico, Mariangela; Fontana, Paola; Lista, Gianluca; Zirpoli, Salvatore; Napolitano, Marcello; Riccipetitoni, Giovanna

    2016-01-01

    Objectives: The objective of our study is to retrospectively analyze a single-centre series of antenatally detected pulmonary malformations (PM) and to evaluate their postnatal outcome. Materials and Methods: We retrospectively reviewed all prenatally diagnosed PM patients referred to our Centre in the period between January 1999 and December 2014. All cases were diagnosed by one of our Maternal-Fetal Specialists by US examination. Congenital pulmonary airway malformation (CPAM) volume ratio (CVR), development of fetal complications, need for fetal therapy, need for neonatal resuscitation and timing of surgery were analyzed. Results: A total of 70 fetuses were diagnosed with a PM in the period of study. An initial CVR higher than 1.6 was found in 16/70 patients (22.8%); 14/16 developed fetal complications (p less than .0001). Fifty-six fetuses (80%) did not develop any complications during pregnancy. To all complicated cases a prenatal treatment was offered, carried out in 12 (1 termination, 1 refusal). Survival rate was 100%. Sixty-three fetuses (90%) were asymptomatic at birth and did not require any neonatal resuscitation. Six patients submitted to fetal therapy and one untreated presented with neonatal respiratory distress, required mechanical ventilation at birth and early surgery in the neonatal period (7/70, 10%). Conclusion: CVR > 1.6 and the presence of fetal complications can be considered as predictors of respiratory distress at birth and of the need for early surgery. Nevertheless, the vast majority of PM are asymptomatic at birth and only a small group of fetuses require prenatal and postnatal treatment and support. PMID:27458568

  20. Defective autophagy is a key feature of cerebral cavernous malformations

    PubMed Central

    Marchi, Saverio; Corricelli, Mariangela; Trapani, Eliana; Bravi, Luca; Pittaro, Alessandra; Delle Monache, Simona; Ferroni, Letizia; Patergnani, Simone; Missiroli, Sonia; Goitre, Luca; Trabalzini, Lorenza; Rimessi, Alessandro; Giorgi, Carlotta; Zavan, Barbara; Cassoni, Paola; Dejana, Elisabetta; Retta, Saverio Francesco; Pinton, Paolo

    2015-01-01

    Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral hemorrhages. Cerebral cavernous malformation is a genetic disease that may arise sporadically or be inherited as an autosomal dominant condition with incomplete penetrance and variable expressivity. Causative loss-of-function mutations have been identified in three genes, KRIT1 (CCM1), CCM2 (MGC4607), and PDCD10 (CCM3), which occur in both sporadic and familial forms. Autophagy is a bulk degradation process that maintains intracellular homeostasis and that plays essential quality control functions within the cell. Indeed, several studies have identified the association between dysregulated autophagy and different human diseases. Here, we show that the ablation of the KRIT1 gene strongly suppresses autophagy, leading to the aberrant accumulation of the autophagy adaptor p62/SQSTM1, defective quality control systems, and increased intracellular stress. KRIT1 loss-of-function activates the mTOR-ULK1 pathway, which is a master regulator of autophagy, and treatment with mTOR inhibitors rescues some of the mole-cular and cellular phenotypes associated with CCM. Insufficient autophagy is also evident in CCM2-silenced human endothelial cells and in both cells and tissues from an endothelial-specific CCM3-knockout mouse model, as well as in human CCM lesions. Furthermore, defective autophagy is highly correlated to endothelial-to-mesenchymal transition, a crucial event that contributes to CCM progression. Taken together, our data point to a key role for defective autophagy in CCM disease pathogenesis, thus providing a novel framework for the development of new pharmacological strategies to prevent or reverse adverse clinical outcomes of CCM lesions. PMID:26417067