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1

Imaging diagnosis--split cord malformation.  

PubMed

The features of a calf with a split cord malformation are described. Clinically, there was severe cervicothoracic kyphoscoliosis and an interscapular dermal sinus associated with cerebrospinal fluid drainage. Using magnetic resonance imaging, complete duplication of the spinal cord at the cervical intumescence was detected. There was associated syringohydromyelia, multiple cervicothoracic vertebral malformations resulting in kyphoscoliosis and rachischisis, herniation of the cerebellar vermis, meningoencephalocele, and calvarial defects. PMID:20166395

Zani, Davide D; De Zani, Donatella; Morandi, Nicola; Biggi, Marianna; Belloli, Angelo G; Riccaboni, Pietro; Rondena, Marco; Di Giancamillo, Mauro; Pravettoni, Davide

2

Occurrence of Split Cord Malformation in Meningomyelocele: Complex Spina bifida  

Microsoft Academic Search

Objective: To describe the clinical features and surgical outcome of a combined anomaly, i.e. split cord malformation (SCM) with meningomyelocele (MMC), and to propose an addition to Pang’s classification of SCM to accommodate a combined form of anomaly. Methods: We retrospectively analyzed 16 cases of such a combination, out of a total of 106 cases of spinal dysraphism treated and

Raj Kumar; Krishan Kumar Bansal; Devendra Kumar Chhabra

2002-01-01

3

A case of split cord malformation associated with myeloschisis  

Microsoft Academic Search

Introduction  Split cord malformation (SCM) associated with myeloschisis is a very rare form of spinal dysraphism. We encountered a case\\u000a of SCM associated with myeloschisis showing split neural placodes (hemicords) in the upper lumbar region.\\u000a \\u000a \\u000a \\u000a Results  Radiological examinations, including prenatal MRI and postnatal CT scan, clearly demonstrated a bony spur between the two\\u000a hemicords as well as myeloschisis, which facilitated a precise

Katsuhiko Akiyama; Kenichi Nishiyama; Junichi Yoshimura; Hiroshi Mori; Yukihiko Fujii

2007-01-01

4

[Type II split cord malformation of late clinical onset].  

PubMed

A 68-year-old patient suffered for 8 years from radicular S1 pain on the left side, which was aggravated by walking. After an increased effort, he experienced a violent dorsal pain and sensitive troubles in the left T1 and T2 territories. Low back pain and painful paresthesiae of right leg came on next. Physical examination revealed proprioceptive symptoms on the left, a left pyramidal syndrome and a sacral pilonidal sinus. MRI showed on level of L2 vertebra, a spinal cord duplication in a unique dural tube, corresponding to diplomyelia or split cord malformation (SCM) type II. The patient had low conus medullaris anchored on L3-L4 level. A syringomyelia surmounted this medullar dysraphia. Split cord malformations, SCM type I (diplomyelia) or SCM type II (diastematomyelia), are usually revealed in infancy or early childhood. They are very rarely discovered late in the life. With progress in noninvasive spinal cord imaging, such diagnoses will undoubtedly be made more often in adults. PMID:14978399

Goina, L S; Verstichel, P; Roualdès, B; El Amrani, M; Meyrignac, C

2004-01-01

5

Staged corrective surgery for complex congenital scoliosis and split cord malformation  

PubMed Central

Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done.

Asad, Ambreen; Pasha, Ibrahim Farooq; Malik, Arslan Sharif; Arlet, Vincent

2009-01-01

6

[A case of diastematomyelia (split cord malformation type I) with clinical manifestation in adulthood].  

PubMed

We present the case of a female patient with split-cord malformation type I (diastematomyelia) who developed first symptoms as an adult and worsened markedly after intramedullary injection of local anaesthetics. Our own observations are compared with the small number of cases known from the literature. We are using the morphological and clinical classification of spinal malformations of Pang et al. (1992), which is based on a uniform disturbed embryonal development [18, 19]. The 52-year-old patient presented to her family physician in September 1991 with pain in the region of the vertebral column which had developed gradually over a period of two weeks. Following unsuccessful analgetic and muscle-relaxing therapy, the family physician had the patient transferred to the orthopedic department of a hospital. Lumbar peridural infiltrations were carried out there in February 1992 for a suspected disc prolapse. Since June 1992, she had no longer been able to walk. In addition, there had also been a progredient urinary incontinence since April 1992. The spinal CT scan reveals a duplication of spinal cord starting at the level of L4 as well as a bony spur dividing the spinal cord at levels L4 and L5. MRI of the vertebral column likewise reveals a duplication of the spinal cord starting at L4 as well as a low conus and a bone spur extending from L4 to L5 is also visualized here. Each primordial spinal cord is surrounded by its own dura mater. Altogether, this led to the diagnosis of split cord malformation type I according to Pang et al. [18].(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7887051

List, J; Stendel, R; Rudolph, K H; Brock, M

1994-01-01

7

Split cord malformation - A study of 300 cases at AIIMS 1990-2006  

PubMed Central

Background: Split cord malformation (SCM) is a rare condition. With decreasing incidence of neural tube defect (NTD) in the West, the reports of SCM are getting lesser and lesser. However, in India, spinal dysraphism is still a major problem encountered by the neurosurgeons. Objective: Our aim was to analyze 300 patients of SCM for their clinical features, radiological findings and outcome of surgery, which can throw light on the subject to others, who have less scope of finding these cases frequently. Materials and Methods: Over a 16-year period, we encountered 300 cases of SCM at AIIMS. Over the same period, more than 1500 cases of NTD were managed. SCM was noticed in 20% of cases with NTD. Skin stigmata were noted in two-third of the cases, and scoliosis and foot deformity were observed in 50% and 48% cases, respectively. Motor and sensory deficits were observed in 80% and 70% cases, respectively. Commonest site affected was lumbar or dorsolumbar (55% and 23%, respectively). In 3% cases, it was cervical in location. Magnetic resonance imaging (MRI) scan revealed a large number of anomalies like lipoma, neuroenteric cyst, thick filum and dermoid or epidermoid cysts. All the patients were surgically treated. In type I, bony spurs were excised, and in type II, bands tethering the cord were released. Associated anomalies were managed in the same sitting. Patients were followed up from 3 months to 3 years. Results: Overall improvement was noticed in 50% and stabilization in 44% cases and deterioration of neurological status was recorded in 6% cases. However, 50% of those who deteriorated improved to preop status prior to discharge, 7-10 days following surgery. Conclusions: SCM is rare and not many large series are available. We operated 300 cases and noticed a large number of associated anomalies and also multilevel and multisite splits. Improvement or stabilization was noted in 94% and deterioration in 6% cases. We recommended prophylactic surgery for our asymptomatic patients.

Mahapatra, A. K.

2011-01-01

8

The tethered spinal cord in patients with anorectal malformations  

Microsoft Academic Search

The aims of this study were to find the prevalence of tethered cord in patients with anorectal malformations; to determine if the presence of tethered cord relates to the severity of the anorectal defect, and to certain symptoms, signs, radiologic findings, and associated anomalies; and finally to determine whether tethered cord impacted on a patient's functional prognosis and whether surgical

Marc A Levitt; Mahendra Patel; George Rodriguez; Daniel S Gaylin; Alberto Peña

1997-01-01

9

Arteriovenous malformation of the spinal cord  

Microsoft Academic Search

We report a case of spinal arteriovenous malformation (AVM) in which detailed morphological examination of the intramedullary vascular lesion was carried out employing serial section studies. The relationship of the malformation to parenchymal lesions was evaluated. An abnormal vessel at the spinomedullary transition, whose lamina elastica was partially interrupted, was suggestive of a shunt vessel. The location of the intramedullary

Tsuyoshi Ishida; Shigeo Murayama; Kazuyoshi Yamaguchi; Yoshinori Urano; Makoto Iwata

1989-01-01

10

Caudal agenesis and associated caudal spinal cord malformations.  

PubMed

Caudal agenesis is a rare congenital anomaly resulting from an insult to the structures of the caudal eminence. It may be associated with anomalies of other structures derived from the caudal eminence: the hindgut and the urogenital system. Patients are more likely to present first to the pediatric surgeon (for evaluation of gastrointestinal anomalies), the urologist (for urogenital malformation or dysfunction), or the orthopedic surgeon (for lower extremity abnormalities), than to the neurosurgeon. Characteristic external features of the buttocks, hips, and lower extremities may suggest the diagnosis. MR imaging is the diagnostic modality of choice and should be used in all patients with suggestive external features or other caudal anomalies. The level of bone anomaly corresponds well to the level of weakness but not sensory loss. Sensation is usually relatively preserved. The caudal spinal cord is often truncated in cases of high bone lesions and tethered, with occasional association with a dysraphic lesion, in cases of low bone lesions. Early neurosurgical intervention is preferred in all cases of recognized occult spinal dysraphism. Progressive neurologic deficits may develop later in life in patients with unrecognized tethered cord or dural stenosis and require neurosurgical repair on diagnosis. A better understanding of the embryology of the caudal region and investigation of the teratogens that may interfere with this stage of development should lead to more effective treatment and prevention of caudal agenesis and the associated caudal anomalies. PMID:7620361

Estin, D; Cohen, A R

1995-04-01

11

Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging  

Microsoft Academic Search

The incidence of associated malformations of the hindbrain and spinal cord in patients with spina bifida was investigated by a clinical and magnetic resonance study. The incidence of these malformations in combination with spina bifida was 49\\/53 (92.5%). Fiftytree children born with spina bifida aperta (40 patients) or spina bifida occulta (13 patients) formed the study group. The incidence of

Parvin C. Azimullah; Leo M. E. Smit; Elisabeth Rietveld-Knol; Jaap Valk

1991-01-01

12

Vascular Anatomy of the Spinal Cord and Classification of Spinal Arteriovenous Malformations  

PubMed Central

Summary The arterial and venous anatomy of the spinal cord was described in terms of extrinsic and intrinsic contribution to the cord substance. Based upon anatomical location of an arteriovenous shunt, spinal arteriovenous malformations (AVMs) were classified into intramedullary AVM, perimedullary arteriovenous fistula (AVF) and duralAVF. This simple classification seems practical from the standpoint of endovascular and surgical treatments since it reflects anatomical differences in the shunt location, which is the target in either approach.

Miyasaka, K.; Asano, T.; Ushikoshi, S.; Hida, K.; Koyanagi, I.

2000-01-01

13

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.  

PubMed

Developmental anomalies of the appendicular skeleton are among the most common and easily ascertained birth defects. Split hand/split foot malformations, distinctive in having deficiency of the central rays, occur as isolated anomalies and as one component of multisystem syndromes. The clinical and molecular characterization of a new syndrome, found in two unrelated families, consisting of split foot with hearing loss, is presented here. As in other split hand/split foot conditions, variable expression and reduced penetrance is notable. In the larger family, variably expressed split foot malformations were found in 6 of 11 gene carriers. and mild-to-moderate sensorineural hearing loss in 4. Split hand and cleft lip/palate in one individual and tibial deficiency in another suggest that these malformations are uncommon components of the syndrome. Ectodermal abnormalities did not occur. In the second family, variable split foot was observed in 3 of 4 gene carriers, and sensorineural deafness was present in 3. Split hand was only seen in a gene carrier who also had split foot and deafness. One gene carrier only had deafness. The gene for split hand split foot with sensorineural hearing loss was linked to markers in 7q21 in both families, with a combined (maximum LOD score of 4.37 at theta = 0.0 for locus D7S527) at 80% penetrance. Efforts to identify the responsible gene have not yet been successful. PMID:11168022

Tackels-Horne, D; Toburen, A; Sangiorgi, E; Gurrieri, F; de Mollerat, X; Fischetto, R; Causio, F; Clarkson, K; Stevenson, R E; Schwartz, C E

2001-01-01

14

Tethering of the cervico-medullary junction with central cord oedema after foramen magnum decompression for Chiari malformation.  

PubMed

An unusual complication following foramen magnum decompression for Chiari malformation is described: adhesive tethering of the cervico-medullary junction with oedema of the upper spinal cord and lower medulla. Further surgery was required to correct this condition. PMID:21513448

Vergani, Francesco; Nicholson, Claire; Jenkins, Alistair

2011-04-22

15

Intramedullary spinal cord cavernous malformations: clinical features and risk of hemorrhage.  

PubMed

The aim of this study was to review the natural history of symptomatic intramedullary spinal cord (IMSC) cavernous malformations in order to analyze the underlying mechanisms leading to symptoms and determine the potential risk of lesional hemorrhage. Between January 1990 and June 2001, ten consecutive patients with IMSC cavernous malformations were treated surgically in our institution. Age ranged from 17 to 73 years (mean 34.5). All patients became symptomatic due to one or more hemorrhages leading to neurological deficits of different severity, with a more aggressive course for upper cervical lesions. Pre- and postoperative patient condition was classified according to the Frankel scale. Four patients experienced one hemorrhage, four patients two, one patient three, and another one five repeated hemorrhages. The annual retrospective hemorrhage rate for symptomatic IMSC cavernous malformations was 4.5% per patient/year, with a prospective rehemorrhage risk of 66% per patient/year. The postoperative condition was improved in four patients and unchanged in six, and none grew worse. Detailed analysis of history and clinical course in all patients revealed an acute onset of symptoms with subsequent neurological deterioration after each bleeding episode. Based on the significant risk of rehemorrhage and the gratifying functional results, surgery is indicated for symptomatic IMSC cavernous malformations. PMID:12690529

Sandalcioglu, Ibrahim Erol; Wiedemayer, Helmut; Gasser, Thomas; Asgari, Siamek; Engelhorn, Tobias; Stolke, Dietmar

2003-04-01

16

Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.  

PubMed

We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan. © 2013 Wiley Periodicals, Inc. PMID:24115638

Gurrieri, Fiorella; Everman, David B

2013-09-24

17

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

PubMed

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

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

2011-12-01

18

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.  

PubMed

The genes for human and mouse Suppressor of Fused (SU(FU)/Su(Fu)) in the Hedgehog signaling pathway were characterized and found to contain 12 exons. Human SU(FU) localized on chromosome 10q24-25 between the markers D10S192 and AFM183XB12. We detected three additional SU(FU) isoforms, two of which have lost their ability to interact with the transcription factor GLI1. Expression analysis using whole mount in situ hybridization revealed strong expression of Su(Fu) in various mouse embryonic tissues. SU(FU) was considered a candidate gene for the split-hand/split-foot malformation type 3 (SHFM3). However, no alterations in the SU(FU) gene were found in SHFM3 patients. PMID:11557033

Grimm, T; Teglund, S; Tackels, D; Sangiorgi, E; Gurrieri, F; Schwartz, C; Toftgård, R

2001-09-01

19

Role of Multimodality Intraoperative Neurophysiological Monitoring during Embolisation of a Spinal Cord Arteriovenous Malformation  

PubMed Central

Summary The decision whether or not to embolise during endovascular procedures for arteriovenous malformations (AVMs) of the spinal cord under general anesthesia, relies primarily on neurophysiological results of provocative tests with Lidocaine and short-acting barbiturates. Because of the complex haemodynamics of spinal AVMs, when either sensory (CSEPs) or muscle motor evoked potentials (mMEPs) are used independently, they can mislead the interpretation of provocative tests. This report illustrates the specific but complementary role played by provocative tests using CSEPs and mMEPs during embolisation of a low thoracic spinal cord AVM. We present the case of a 46 year old male with six year history of right lower extremity weakness. At that time, Magnetic Resonance (MR) imaging of the spine disclosed an intramedullary AVM at Til. He remained neurologically stable up to seven months before admission, when he developed sudden onset of low back pain, followed by progressive paraparesis, numbness in lower extremities, urinary retention and fecal incontinence. A new MR imaging study indicated venous thrombosis of the AVM. A two-stage embolisation was performed. During the first procedure, after provocative tests did not affect either CSEPs or mMEPs, an embolisation was performed through a sulcocommisure feeder from the anterior spinal artery (ASA) at T9. Conversely, provocative tests with Lidocaine performed from a right posterior spinal artery (PSA) feeder to the AVM nidus resulted in a significant (>50%) decrease of CSEPs, while mMEPs remained unchanged. The repeatedly positive tests warranted further investigation of the vascular anatomy which disclosed a normal right PSA distal to the nidus; the distal normal PSA was protected with coils. A repeated Lidocaine test was negative and the posterior feeder was embolised with no subsequent changes in CSEPs or mMEPs. After the procedure, the patient experienced only a mild transitory increase in right leg numbness, but no additional motor deficits. Five days later, the embolisation through the ASA feeder at T9 was completed on the basis of negative provocative tests. No additional neurological deficits were observed. Favoring either CSEPs or MEPs during endovascular procedures in the spinal cord is not justified by a solid scientific background. This case report illustrates that monitoring both CSEPs and mMEPs combined with provocative tests allows the safest and most effective embolisation of spinal cord AVMs under general anesthesia.

Sala, F.; Niimi, Y.; Berenstein, A.; Deletis, V.

2000-01-01

20

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.  

PubMed

Split-hand/split-foot malformation (SHFM, also called ectrodactyly) is a clinically variable and genetically heterogeneous group of limb malformations. Several SHFM loci have been mapped, including SHFM1 (7q21), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27) and SHFM5 (2q31). To date, mutations in a gene (TP63) have only been identified for SHFM4. SHFM3 has been shown by pulsed-field gel electrophoresis to be caused by an approximately 500 kb DNA rearrangement at 10q24. This region contains a number of candidate genes for SHFM3, though which gene(s) is (are) involved in the pathogenesis of SHFM3 is not known. Our aim in this study was to improve the diagnosis of SHFM3, and to begin to understand which genes are involved in SHFM3. Here we show, using two different techniques, FISH and quantitative PCR that SHFM3 is caused by a minimal 325 kb duplication containing only two genes (BTRC and POLL). The data presented provide improved methods for diagnosis and begin to elucidate the pathogenic mechanism of SHFM3. Expression analysis of 13 candidate genes within and flanking the duplicated region shows that BTRC (present in three copies) and SUFU (present in two copies) are overexpressed in SHFM3 patients compared to controls. Our data suggest that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signalling. PMID:16691619

Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; Everman, David B; Gehrig, Corinne; Delozier-Blanchet, Celia; Solanki, Jitendra V; Patel, Uday C; Nath, Swapan K; Gurrieri, Fiorella; Neri, Giovanni; Schwartz, Charles E; Antonarakis, Stylianos E

2006-07-01

21

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

Microsoft Academic Search

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

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

1999-01-01

22

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.  

PubMed

Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a approximately 0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within an 80 and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed. PMID:12913067

de Mollerat, Xavier J; Gurrieri, Fiorella; Morgan, Chad T; Sangiorgi, Eugenio; Everman, David B; Gaspari, Paola; Amiel, Jeanne; Bamshad, Michael J; Lyle, Robert; Blouin, Jean-Louis; Allanson, Judith E; Le Marec, Bernard; Wilson, Melba; Braverman, Nancy E; Radhakrishna, Uppala; Delozier-Blanchet, Celia; Abbott, Albert; Elghouzzi, Vincent; Antonarakis, Stylianos; Stevenson, Roger E; Munnich, Arnold; Neri, Giovanni; Schwartz, Charles E

2003-08-15

23

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.  

PubMed

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. The results differed for these three conditions. p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome. Apart from a frameshift mutation in exon 13, all other EEC mutations were missense, predominantly involving codons 204, 227, 279, 280, and 304. In contrast, p63 mutations were detected in only a small proportion (4/35) of patients with isolated SHFM. p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3' splice site for exon 5. The fourth SHFM mutation (R280H) in this series was also found in a patient with classical EEC syndrome, suggesting partial overlap between the EEC and SHFM mutational spectra. The original family with LMS (van Bokhoven et al. 1999) had no detectable p63 mutation, although it clearly localizes to the p63 locus in 3q27. In two other small kindreds affected with LMS, frameshift mutations were detected in exons 13 and 14, respectively. The combined data show that p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS. PMID:11462173

van Bokhoven, H; Hamel, B C; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, P H; Vanmolkot, K R; van Beusekom, E; van Beersum, S E; Celli, J; Merkx, G F; Tenconi, R; Fryns, J P; Verloes, A; Newbury-Ecob, R A; Raas-Rotschild, A; Majewski, F; Beemer, F A; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, J R; Neri, G; Brunner, H G

2001-07-17

24

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.  

PubMed

Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability. The brain is malformed, with severe vermian hypoplasia, fourth ventriculomegaly, and "molar tooth" appearance of the cerebral and superior cerebellar peduncles visible as consistent features on neuroimaging. Neuropathological studies, though few, suggest that several other brain and spinal cord structures, such as the dorsal cervicomedullary junction, may also be affected in at least some patients. Genetically, JS is heterogeneous, with mutations in 13 genes accounting for approximately 50% of patients. Here, we compare neuropathologic findings in five subjects with JS, including four with defined mutations in OFD1 (2 siblings), RPGRIP1L, or TCTN2. Characteristic findings in all JS genotypes included vermian hypoplasia, fragmented dentate and spinal trigeminal nuclei, hypoplastic pontine and inferior olivary nuclei, and nondecussation of corticospinal tracts. Other common findings, seen in multiple genotypes but not all subjects, were dorsal cervicomedullary heterotopia, nondecussation of superior cerebellar peduncles, enlarged arcuate nuclei, hypoplastic reticular formation, hypoplastic medial lemnisci, and dorsal spinal cord disorganization. Thus, while JS exhibits significant neuropathologic as well as genetic heterogeneity, no genotype-phenotype correlations are apparent as yet. Our findings suggest that primary cilia are important for neural patterning, progenitor proliferation, cell migration, and axon guidance in the developing human brain and spinal cord. PMID:22331178

Juric-Sekhar, Gordana; Adkins, Jonathan; Doherty, Dan; Hevner, Robert F

2012-02-14

25

Split Cord Malformation as aCause of Tethered Cord Syndrome in a 78YearOld Female  

Microsoft Academic Search

A 78-year-old woman presented for evaluation of back pain, urinary dysfunction, leg weakness and progressive equinovarus foot deformity. She reported that shortly after her birth in 1924, she underwent resection of a subcutaneous ‘cyst’ in the lower lumbar area. Seven years prior to evaluation at our institution, she had undergone bilateral total knee arthroplasty for osteoarthritis. After the procedure, she

Henry F. Pallatroni; Perry A. Ball; Ann-Christine Duhaime

2004-01-01

26

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand\\/foot malformation  

Microsoft Academic Search

Split-hand\\/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21-q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27),

David B. Everman; Chad T. Morgan; Robert Lyle; Mary E. Laughridge; Michael J. Bamshad; Katie B. Clarkson; Randall Colby; Fiorella Gurrieri; A. Micheil Innes; Jacquelyn Roberson; Connie Schrander-Stumpel; J. H. L. M. van Bokhoven; Stylianos E. Antonarakis; Charles E. Schwartz

2006-01-01

27

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.  

PubMed

We report on complex rearrangements of the 7q21.3 region in a female patient with bilateral split-foot malformation and hearing loss. G-banding karyotype was 46,XX,t(7;15)(q21;q15),t(9;14)(q21;q11.2)dn. By fluorescence, in situ hybridization (FISH), Southern hybridization, and inverse PCR, the 7q21.3 translocation breakpoint was determined at the nucleotide level. The breakpoint did not disrupt any genes, but was mapped to 38-kb telomeric to the DSS1 gene, and 258- and 272-kb centromeric to the DLX6 and DLX5 genes, respectively. It remains possible that the translocation would disrupt the interaction between these genes and their regulatory elements. Interestingly, microarray analysis also revealed an interstitial deletion close to (but not continuous to) the 7q21.3 breakpoint, indicating complex rearrangements within the split-hand/foot malformation 1 (SHFM1) locus in this patient. Furthermore, a 4.6-Mb deletion at 15q21.1-q21.2 adjacent to the 15q15 breakpoint was also identified. Cloning of the deletion junction at 7q21.3 revealed that the 0.8-Mb deletion was located 750-kb telomeric to the translocation breakpoint, encompassing TAC1, ASNS, OCM, and a part of LMTK2. Because TAC1, ASNS, and OCM genes were located on the reported copy number variation regions, it was less likely that the three genes were related to the split-foot malformation. LMTK2 appeared to be a potential candidate gene for SHFM1, but no LMTK2 mutations were found in 29 individuals with SHFM. Further LMTK2 analysis of SHFM patients together with hearing loss is warranted. PMID:19449426

Saitsu, Hirotomo; Kurosawa, Kenji; Kawara, Hiroki; Eguchi, Maki; Mizuguchi, Takeshi; Harada, Naoki; Kaname, Tadashi; Kano, Hiroki; Miyake, Noriko; Toda, Tatsushi; Matsumoto, Naomichi

2009-06-01

28

Intramedullary spinalcord cavernous malformations  

Microsoft Academic Search

Intramedullary spinal cord cavernous malformations are rare lesions and account for a small percentage of clinically evident cavernous malformations. However, the reported incidence rates likely underestimate their true rate of occurrence. The advent of magnetic resonance imaging has increased the diagnosis of these lesions as it has that of their intracranial counterparts. Our understanding of their natural history, however, is

Frank P. K. Hsu; Richard E. Clatterbuck; Louis J. Kim; Robert F. Spetzler

2003-01-01

29

Pathologie neurovasculaire malformative de l'enfant : malformations anévrismales de la veine de Galien (MAVG), malformations artérioveineuses piales (MAVP), malformations des sinus duraux (MSD)  

Microsoft Academic Search

The purpose of this article is to give an overview of the cerebral and spinal cord pediatric malformations; we particularly describe three of them: Vein of Galen arteriovenous Malformation, Pial Arteriovenous Malformation, and Dural Sinus Malformation. We report the experience of Bicêtre since 1981 to 2003, with 317 VGAM, 302 Pial AVM and 30 DSM. We describe natural history, clinical

A. Ozanne; H. Alvarez; T. Krings; P. Lasjaunias

2007-01-01

30

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.  

PubMed

Split-hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21-q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27), and SHFM5 (2q31). Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown. The recent identification of submicroscopic tandem chromosome duplications affecting the SHFM3 locus in seven families with non-syndromic SHFM has helped to further unravel the molecular basis of this malformation. In our ongoing studies of the SHFM3 locus in 44 additional cases of syndromic and non-syndromic SHFM, we have identified similar chromosome rearrangements in eight additional cases (18%), using pulsed-field gel electrophoresis (PFGE). We have also utilized real-time quantitative PCR (qPCR) to test for the duplications. Seven of the cases with rearrangements were non-syndromic. The current findings bring the total of SHFM3-associated cases with chromosome rearrangements to 15, which constitute 29% (15 of 51) of the cases screened to date. This includes 9 of 9 cases (100%) with known linkage to the SHFM3 locus, all of whom have non-syndromic SHFM, and 6 of 42 additional cases (14%), four of whom have non-syndromic SHFM. Thus, SHFM3 abnormalities underlie a substantial proportion of SHFM cases and appear to be a more frequent cause of non-syndromic SHFM than mutations in TP63. PMID:16761290

Everman, David B; Morgan, Chad T; Lyle, Robert; Laughridge, Mary E; Bamshad, Michael J; Clarkson, Katie B; Colby, Randall; Gurrieri, Fiorella; Innes, A Micheil; Roberson, Jacquelyn; Schrander-Stumpel, Connie; van Bokhoven, Hans; Antonarakis, Stylianos E; Schwartz, Charles E

2006-07-01

31

Phase-Contrast MR Imaging of the Cervical CSF and Spinal Cord: Volumetric Motion Analysis in Patients with Chiari I Malformation  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Most previous MR studies of the dynamics of Chiari I malformation have been confined to sagittal images and operator-dependent measurement points in the midline. To obtain a deeper insight into the pathophysiology of the Chiari I malformation, we performed a prospective study using axial slices at the level of C2 to analyze volumetric motion data of the

Erich Hofmann; Monika Warmuth-Metz; Martin Bendszus

32

Brain Malformations  

MedlinePLUS

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

33

Genomewide Linkage Scan for Split-Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1  

PubMed Central

Split–hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of ?18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of ?1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family.

Naveed, Mohammed; Nath, Swapan K.; Gaines, Mathew; Al-Ali, Mahmoud T.; Al-Khaja, Najib; Hutchings, David; Golla, Jeffrey; Deutsch, Samuel; Bottani, Armand; Antonarakis, Stylianos E.; Ratnamala, Uppala; Radhakrishna, Uppala

2007-01-01

34

[Anorectal malformations].  

PubMed

Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness. PMID:23992833

Cretolle, C; Rousseau, V; Lottmann, H; Irtan, S; Lortat-Jacob, S; Alova, I; Michel, J L; Aigrain, Y; Podevin, G; Lehur, P A; Sarnacki, S

2013-09-01

35

Chiari Malformation  

MedlinePLUS

... signs and symptoms may not occur until late childhood or adulthood. The most common pediatric form, called ... I, signs and symptoms usually appear during late childhood or adulthood. Chiari malformation type II is usually ...

36

Chiari Malformation  

MedlinePLUS

... Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. ... of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The ...

37

Chiari Malformation  

MedlinePLUS

... of the back of the head or the neck and contains brain matter. The covering of the brain or spinal ... fusion of segments of the bones in the neck, and extra folds in the brain. How common are Chiari malformations? In the past, ...

38

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Center., Northern P.

1997-01-01

39

Surgical Treatment of a Patient with Human Tail and Multiple Abnormalities of the Spinal Cord and Column  

PubMed Central

The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult dysraphism. The authors present a case of human tail occurring in a 9-month-old infant with multiple abnormalities of the spinal cord and spine. Examination revealed unremarkable except for a caudal appendage and a dark pigmentation area in the low back. Neuroradiological scans revealed cleft vertebrae and bifid ribbon, split cord malformations, block vertebrae, and hemivertebra. Surgical excision of the tail and untethering the spinal cord by removal of the septum were performed. The infant had an uneventful postoperative period and was unchanged neurologically for 18 months of followup. To our knowledge, no similar case reports exist in the literature. The specific features in a rare case with a human tail treated surgically are discussed in light of the available literature.

Cai, Chunquan; Shi, Ouyan; Shen, Changhong

2011-01-01

40

Vascular diseases of the spinal cord.  

PubMed

Vascular disease affecting the spinal can cause substantial neurologic morbidity. Several vascular spinal cord ailments present as neurologic emergencies, and should thus be recognizable to the practicing neurologist. We review the epidemiology, presentation, management strategies, and prognosis of various pathologies, including infarction, dural arteriovenous fistula, arteriovenous malformation, cavernous malformation, compressive epidural hematoma, vasculitis, and genetic abnormalities. PMID:23186899

Rubin, Mark N; Rabinstein, Alejandro A

2013-02-01

41

Sonography of the umbilical cord.  

PubMed

Knowledge of the development, normal sonographic appearance, and potential abnormalities of the umbilical cord is important in fetal assessment. The umbilical cord can be visualized throughout most of gestation and is detectable sonographically soon after visualization of the fetal pole. The normal umbilical cord is 50-60 cm long and may coil as many as 40 times, usually to the left. Abnormalities in umbilical cord size, degree of coiling, attachment, and position can have important implications for the outcome of the pregnancy. Structural abnormalities of the umbilical cord such as single umbilical artery, knots, cysts, and tumors may be associated with fetal distress or malformations. Color Doppler ultrasound (US) is useful in the identification and evaluation of structural abnormalities of the cord. By allowing measurement of blood flow velocity in the umbilical artery, duplex Doppler US may provide additional information in the evaluation of intrauterine growth retardation and twin-twin transfusion syndrome. PMID:7501849

Dudiak, C M; Salomon, C G; Posniak, H V; Olson, M C; Flisak, M E

1995-09-01

42

FRUIT SPLIT  

Technology Transfer Automated Retrieval System (TEKTRAN)

Water stage fruit split is a noninfectious disorder of pecan. Its occurrence and severity varies greatly depending upon cultivar, crop load, water status of trees, and atmospheric conditions. This review article discusses the symptoms, causes, and control measures for water stage fruit split in pe...

43

Split Decomp  

NSDL National Science Digital Library

This worksheet performs split decomposition on a set of four DNA sequences and their associated amino acid sequences. The user can type in the sequences or paste them in from a text file. The program then translates the DNA sequences into amino acid sequences and calculates split indices and four-point conditions for each of the three possible unrooted phylogenies. The user can use these values to assess the data support for each of these topologies.

Tony Weisstein (Truman State University;Biology); John Jungck (Beloit College;Biology)

2007-04-20

44

Spinal arteriovenous malformation  

Microsoft Academic Search

An 11-year-old girl presented with acute onset of paraplegia with bowel and bladder incontinence. She had spinal tenderness\\u000a and a sensory level at mid thoracic region. MRI spine revealed an intradural extramedullary arterio-venous malformation with\\u000a hemorrhage into the intramedullary region. Hence a diagnosis of spinal arterio-venous malformation was entertained.

S. Balasubramanian; So. Shivbalan; Sandeep D. Jaipurkar

2004-01-01

45

Human Tail with Noncontiguous Intraspinal Lipoma and Spinal Cord Tethering:Case Report and Embryologic Discussion  

Microsoft Academic Search

Children born with a tail-like appendage have a rare malformation that is frequently associated with abnormalities of the spine and spinal cord. A contiguous fibrolipoma is usually seen extending from the subcutaneous portion of the tail into the inferior spinal cord, resulting in tethered cord syndrome. We present the case of a child born with a tail and intraspinal lipoma

Daniel J. Donovan; Robert C. Pedersen

2005-01-01

46

Vascular malformations in childhood.  

PubMed

Vascular malformations are inborn errors of vascular embryogenesis present at birth that should be diagnosed in childhood and, when necessary, treated to prevent later complications. The current trend is to classify these lesions according to flow characteristics and the predominant type of vascular channel affected. Given the complexity, and in many cases, the rarity, of vascular malformations, they should be managed by multidisciplinary teams at vascular anomalies centers. Furthermore, because the association between vascular malformations and certain syndromes is becoming increasingly recognized, a better understanding of these lesions will help to improve overall patient management in this setting. PMID:22483320

Del Pozo, J; Gómez-Tellado, M; López-Gutiérrez, J C

2012-04-06

47

Split gland  

DOEpatents

A split gland having only three parts is described. The gland has substantially the same stability to the relative motion of the constituent half-gland members during the attachment process to a female fitting as have more complicated designs. Ease of manufacture and use result from the reduction in complexity of the present invention.

Petranto, Joseph J. (Los Alamos, NM)

1989-01-01

48

Split gland  

DOEpatents

A split gland having only three parts is described. The gland has substantially the same stability to the relative motion of the constituent half-gland members during the attachment process to a female fitting as have more complicated designs. Ease of manufacture and use result from the reduction in complexity of the present invention. 15 figs.

Petranto, J.J.

1989-09-05

49

Congenital occipitoatlantoaxial malformations in the horse.  

PubMed

From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed. PMID:565704

Mayhew, I G; Watson, A G; Heissan, J A

1978-04-01

50

Congenital Hepatic Vascular Malformations  

Microsoft Academic Search

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

Guadalupe Garcia-Tsao

51

Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome.  

PubMed

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital vascular disorder characterized by cutaneous haemangiomas, venous varicosities, and hypertrophy of the osseous and soft tissue. Various vascular anomalies of the central nervous system have been described in this syndrome. Two previous associations between KTWS and spinal cord cavernous malformations have been reported in the English literature. In this report, we present a patient in whom multiple cavernous malformations located in the conus medullaris region and cauda equina were associated with KTWS. General physical examination as well as neuroradiological and operative findings are described. PMID:23161195

Göksu, Ethem; Alpsoy, Erkan; Uçar, Tanju; Tuncer, Recai

52

Aplasia of tibia with split-hand\\/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance  

Microsoft Academic Search

Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand\\/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of

F. Majewski; W. Kiister; B. Haar; T. Goecke

1985-01-01

53

Spinal Cord  

Microsoft Academic Search

The spinal cord is a relatively understudied target of diabetes. In this chapter an overview of the anatomy of the spinal\\u000a cord and its associated structures is presented before reviewing the published literature describing evidence for structural\\u000a damage to the spinal cord reported in both diabetic patients and animal models of diabetes. Spinal cord pathology is accompanied\\u000a by functional disorders

Andrew P. Mizisin; Corinne G. Jolivalt; Nigel A. Calcutt

54

Vibrant Cords  

NSDL National Science Digital Library

In this activity, learners will explore how the voice works and feel the vibrations produced by vocal cords. They will learn that the vocal cords are made out of the material elastin, and will experience the variety of pitches produced when vocal cords are stretched and relaxed. As an extension, you can use a stringed instrument of some sort to demonstrate what happens when the vocal cords are tensed and relaxed.

Cosi

2009-01-01

55

Conus Medullaris Spinal Arteriovenous Malformation in a Patient with Klippel-Trenaunay-Weber Syndrome  

PubMed Central

Summary We describe a 24-year-old woman who presented with twice previously unverified subarachnoid hemorrhages from the conus me-dullaris spinal arteriovenous malformation with Parkes-Weber-syndrome. Spinal MRI examination is considered to be necessary for the diagnosis of Klippel-Trenaunay-Weber syndro-me. For diagnosis of the spinal cord arteriovenous malformation, it is indispensable to search carefully for the presence of accompanying lesions. Transarterial glue embolization is effective for the management of the spinal vascular lesion.

Iizuka, Y.; Suzuki, M.; Komura, S.; Takada, T.; Shimoji, K.

2008-01-01

56

Rare malformation of glans penis: arteriovenous malformation.  

PubMed

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

Akin, Y; Sarac, M; Yucel, S

57

Spinal vascular malformations--typical and atypical findings.  

PubMed

Vascular malformations of the spinal cord and its meninges are rare diseases which comprise true inborn cavernomas and arteriovenous malformations (AVM), including perimedullary fistulae, glomerular and juvenile AVMs, and presumably acquired dural arteriovenous fistulae. This article gives an overview of the imaging features on magnetic resonance imaging (MRI) and digital subtraction angiography of both typical and atypical findings to describe the wide variety of possible pathological entities encountered. Clinical differential diagnoses, the neurological symptomatology and potential therapeutic approaches of these diseases, which may vary depending on the underlying pathology, are given. Although MRI constitutes the first choice diagnostic modality for suspected spinal vascular malformations, we conclude that the definite diagnosis of the disease and thus the choice of the appropriate therapeutic approach rests on selective spinal angiography which should be performed at a specialized center. Treatment in symptomatic patients offers an improvement in prognosis. Microsurgical treatment is recommended for symptomatic spinal cord cavernomas. Dural arteriovenous shunts can either be treated by microsurgical or endovascular approaches, the former being a simple, quick and secure approach to obliterate the fistula while the latter is technically demanding. In spinal arteriovenous malformations of both the fistulous and the glomerular type, the endovascular approach is the method of first choice; in selected cases, surgery or a combined therapy may be necessary. PMID:17966075

Bostroem, A; Thron, A; Hans, F J; Krings, T

2007-10-26

58

Reoperation for Chiari Malformations  

Microsoft Academic Search

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

David Sacco; R. Michael Scott

2003-01-01

59

Familial cerebral cavernous malformation.  

PubMed

Cavernous malformations (CMs) occur in approximately 0.5% of the general population and represent 5-10% of the central nervous system vascular malformations. The majority of CMs appear sporadically but genetically determined familial forms account for 10% to 15% of all cases. The aim of this study was to discuss the clinical, pathological and genetic aspects of familial cerebral cavernous malformations (CCMs). We report on five members of a family who underwent surgery due to CCMs. However, only two members were treated in our Department. The age of onset of symptoms in these cases (4 men and 1 women) ranged from 3 to 28 years. Three members of the family were asymptomatic but it turned out that they were obligatory gene carriers and in one of them the cavernous malformation was confirmed by neuroimaging study. The clinical symptoms of CCMs included seizure (three patients) and focal neurological deficit (two patients). Multiple CCMs were identified in two symptomatic patients (two lesions) and in one asymptomatic patient (three lesions). The lesions were located superficially (4), in the basal ganglia (1), in the brainstem (2) and in the cerebellar vermis (1). In two patients, the subsequent imaging studies showed a single de novo CCM formation. Only one patient with mutation of CCM2 gene was treated surgically. In patients with cavernous malformations the detailed clinical and family history of neurological events ought to be collected. This is particular important in patients with multiple changes or with de novo CCMs formation, identified in subsequent imaging studies. A well-documented family history can help to establish the final diagnosis and makes it possible to offer all members of the family proper neurological and genetic care. PMID:22773461

Dziedzic, Tomasz; Kunert, Przemys?aw; Matyja, Ewa; Ziora-Jakutowicz, Karolina; Sidoti, Antonella; Marchel, Andrzej

2012-01-01

60

A split hand-split foot (SHFM3) gene is located at 10q24â25  

Microsoft Academic Search

The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24â25 region. Maximum lod scores of 3.73,

F. Gurrieri; M. Genuardi; L. Nanni; E. Sangiorgi; G. Garofalo; Judith Allanson; Ana Vuckov; Mark E. Nunes; Giovanni Neri; Charles Schwartz

1996-01-01

61

Ebstein’s malformation  

Microsoft Academic Search

Opinion statement  Ebstein’s malformation of the tricuspid valve is a complex and heterogeneous disorder that has diverse hemodynamic and arrhythmic\\u000a manifestations. Hemodynamic dysfunction is due to valvar regurgitation and decreased pulmonary blood flow, varying in severity\\u000a from mild tricuspid insufficiency to severe dysplasia of the right ventricle without forward flow. Atrioventricular reentrant\\u000a tachycardia and atrial tachyarrhythmias are commonly associated with Ebstein’s

Adel K. Younoszai; Michael M. Brook; Norman H. Silverman

1999-01-01

62

ArterioVenous Malformations  

Microsoft Academic Search

Intracranial arterio-venous malformations (AVM) are relatively uncommon, but increasingly recognized lesions that can cause\\u000a serious neurological symptoms or death. Although AVM can initially present with hemorrhages or seizures, an increasing number\\u000a is detected before symptomatic bleeding due to the recently developed imaging techniques. Over the last decades, the management\\u000a of AVM has been widely modified due to the availability of

Markus W. Gross; Rita Engenhart-Cabillic

63

Vein of Galen malformation  

Microsoft Academic Search

Since 1984, 43 patients with true vein of Galen ancurysmal malformations have been referred to us and managed according to our patient selection, technique, and follow-up guidelines. Thirty-four were embolized transarterially with bucrilate (isobutyl cyanoacrylate) or enbucrilate (N-butyl cyanoacrylate) embolization. No cutdown or hypotension during or after the embolization was used and no balloon catheter was employed. Forty-seven percent of

P. Lasjaunias; R. Garcia-Monaco; G. Rodesch; K. Ter Brugge; M. Zerah; M. Tardieu; D. Victor

1991-01-01

64

Treatment of congenital malformations.  

PubMed

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. PMID:21437824

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

2011-03-24

65

Surgical treatment of spinal vascular malformations performed using intraoperative indocyanine green videoangiography.  

PubMed

This study aims to evaluate the benefits of intraoperative indocyanine green (ICG) videoangiography and associated surgical outcomes of patients with spinal vascular malformations. ICG videoangiography was used during 24 surgical interventions to treat spinal vascular malformations at the Beijing Tiantan Hospital from August 2009 to May 2011. The vascular malformations were removed or the fistulae were occluded with the assistance of ICG videoangiography. The completeness of fistula clipping or nidus extirpation and each patient's neurological status were evaluated. Among these 24 patients, there were seven with spinal dural arteriovenous fistulae, five glomus arteriovenous malformations, one juvenile arteriovenous malformation, nine perimedullary arteriovenous fistulae, and two perimedullary arteriovenous fistulae in combination with perimedullary arteriovenous malformations. Intraoperative ICG videoangiography confirmed the definite clipping of the fistulous points and complete removal of intramedullary arteriovenous malformations in all but one patient. All patients had satisfactory preservation of spinal cord blood supply and venous return. No adverse effects or complications related to ICG videoangiography occurred. Three patients were lost to follow up; 21 patients were followed clinically with a mean follow up of 7.5 months. The neurological deficits completely resolved in six patients, improved significantly in 10, remained stable in two, and were aggravated in three patients. Our experience shows that intraoperative ICG videoangiography offers useful information on the pathological and physiological vascular anatomy encountered during surgery for spinal vascular malformations. PMID:23632289

Wang, Guihuai; Ma, Guangshuo; Ma, Jun; Hao, Shuyu; Li, Dezhi; Han, Lijiang; Wang, Tao; Su, Wei; Han, Bo; Yen, Chun-Po; Kwan, Aij-Lie

2013-04-28

66

Chiari II Malformation and Syringomyelia  

Microsoft Academic Search

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

Spyros Sgouros

67

Congenital Malformations Induced by Mescaline, Lysergic Acid Diethylamide, and Bromolysergic Acid in the Hamster  

Microsoft Academic Search

Malformations of the brain, spinal cord, liver, and other viscera; body edema; and localized hemorrhages were found in fetal hamsters from mothers injected subcutaneously with a single dose of mescaline, lysergic acid diethylamide, or 2-bromo-D lysergic acid diethylamide on the 8th day of pregnancy. In addition, all three drugs produced an increase in the percentages of small fetuses per litter,

William F. Geber

1967-01-01

68

Delayed pseudomyelomeningocele: a rare complication after foramen magnum decompression for Chiari malformation  

Microsoft Academic Search

BackgroundA variety of complications after FMD with or without duraplasty for Chiari malformation have been described. Although cerebellar ptosis through the dural opening and pseudomeningocele are well-known rare complications of this procedure, spinal cord herniation manifesting as pseudomyelomeningocele formation has not previously been cited in the literature. In this report, we present a case of delayed pseudomyleomeningocele after FMD.

Deniz Belen; Uygur Er; Levent Gurses; Kazim Yigitkanli

2009-01-01

69

Myelodysplasia in children with anorectal malformations Mielodisplasia em crianças com malformações anorretais  

Microsoft Academic Search

Objective: To compare computed tomography and magnetic resonance imaging accuracy to diagnose myelodysplasia in patients with anorectal anomaly, to verify the prevalence of tethered spinal cord, and to investigate if there is a direct relation between the presence of myelodysplasia and type of anorectal anomaly, bone alteration, functional prognosis and associated malformations in these patients. Methods: Thirty five patients with

Karine Furtado Meyer; Maurício Macedo; Raquel P Pinheiro

70

Uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is a rare condition, with fewer than 100 cases reported in the literature. Despite it being rare, it is a potentially life-threatening condition. This case report describes a 33-year-old woman who presented with secondary post-partum hemorrhage. Transabdominal ultrasound (US) of the pelvis showed increased vascularity with multidirectional flow of the uterus and a prominent vessel, located on the left lateral wall. She also had retained product of conception, which complicated the diagnosis. A uterine artery angiogram confirmed an AVM in the fundal region with an early draining vein. Embolisation of the AVM was performed successfully. PMID:23983582

Hashim, Hilwati; Nawawi, Ouzreiah

2013-03-01

71

Arteriovenous Malformation Management  

SciTech Connect

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

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

1996-11-15

72

Uterine Arteriovenous Malformation  

PubMed Central

Uterine arteriovenous malformation (AVM) is a rare condition, with fewer than 100 cases reported in the literature. Despite it being rare, it is a potentially life-threatening condition. This case report describes a 33-year-old woman who presented with secondary post-partum hemorrhage. Transabdominal ultrasound (US) of the pelvis showed increased vascularity with multidirectional flow of the uterus and a prominent vessel, located on the left lateral wall. She also had retained product of conception, which complicated the diagnosis. A uterine artery angiogram confirmed an AVM in the fundal region with an early draining vein. Embolisation of the AVM was performed successfully.

Hashim, Hilwati; Nawawi, Ouzreiah

2013-01-01

73

Concurrent Chiari decompression and spinal cord untethering in children: feasibility in a small case series  

Microsoft Academic Search

Background and purpose  We describe the rationale and safety of concurrent decompression of Chiari type 1 malformation (CM1) and untethering of the\\u000a spinal cord. Spinal cord traction is considered one of the pathogenic mechanisms involved in the development of CM, and 14%\\u000a of patients with CM1 have tethered cord syndrome (Milhorat et al., Surg Neurol 7:20–35, 2009; Roth, Neuroradiology 21:133–138, 1981;

Vicko Gluncic; Michael Turner; Delilah Burrowes; David Frim

2011-01-01

74

Central Cord Syndrome  

MedlinePLUS

NINDS Central Cord Syndrome Information Page Synonym(s): Central Cervical Cord Syndrome Table of Contents (click to jump to sections) ... is being done? Clinical Trials Organizations What is Central Cord Syndrome? Central cord syndrome is the most ...

75

Spinal Cord Injury Map  

MedlinePLUS

Spinal Cord Injury Map Loss of function depends on what part of the spinal cord is damaged, ... control. Learn more about spinal cord injuries. A spinal cord injury affects the entire family FacingDisability is ...

76

Cervico-Facial Vascular Malformations  

Microsoft Academic Search

\\u000a Craniofacial vascular lesions are best categorized into hemangiomas (i.e., showing proliferation and potential involution) and vascular malformations (i.e., not showing such behavior) [1]. While hemangiomas and PHACE syndrome will briefly be dealt with at the end of this chapter, vascular malformations are\\u000a the main focus of this paper.

Jeyaledchumy Mahadevan; Hortensia Alvarez; Pierre Lasjaunias

77

Management of venous malformations.  

PubMed

Venous malformations (VMs) frequently occur in the head and neck with a predilection for the parotid gland, submandibular triangle, buccal space, muscles of mastication, lips, and upper aerodigestive tract. They are composed of congenitally disrupted ectatic veins with inappropriate connections and tubular channels. Because VMs have poorly defined boundaries and a tendency to infiltrate normal tissue, they require calculated treatment decisions in the effort to preserve surrounding architecture. Sclerotherapy, surgical excision, neodymium:yttrium aluminum garnet laser therapy, or a combination of these modalities is employed in the management of VMs. Although many small VMs can be cured, the objective is often to control the disease with periodic therapy. Location, size, and proximity to vital structures dictate the type of therapy chosen. Vigilance with long-term follow up is important. This review outlines current diagnostic and therapeutic approaches to simple and extensive cervicofacial VMs. PMID:23188688

Richter, Gresham T; Braswell, Leah

2012-11-27

78

Uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is a little known condition of which, to date, very few cases have been described. It has a very diverse symptomatology, even though in most cases, it is diagnosed during a severe and acute haemorrhagic event. Its treatment can vary from expectant management to hysterectomy; however, current evidence suggests that the embolisation of uterine arteries is the most effective approach, especially if fertility is to be preserved. We present a case report classified as AVM, with additional images that show the appearance of this pathology in a short span of time. This case has a number of peculiarities: unusual persistence of human chorionic gonadotropin hormone (?-HCG), asymptomatic patient, quick establishment of the lesion and its duration with unchanging characteristics and finally its spontaneous resolution without further consequences. This entity shows an aetiopathogenesis, that is, not well established or described. We discuss its physiopathology and aetiopathogenesis. PMID:23396842

Sellers, Francisco; Palacios-Marqués, Ana; Moliner, Belen; Bernabeu, Rafael

2013-02-07

79

Controversies in Chiari I malformations  

PubMed Central

Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures.

Baisden, Jamie

2012-01-01

80

Covered exstrophy associated with an anorectal malformation: A rare variant of classical bladder exstrophy  

Microsoft Academic Search

We report the case of a male newborn with covered bladder exstrophy, high anorectal malformation, and rectourethral fistula. The child had a split symphysis and diverging rectus muscles in the infraumbilical region. The ventral part of the bladder was covered with thin, fragile skin and some portions of the bladder bulged out as abdominal-wall hernias. Two of these hernias were

T. M. L. Boemers; T. P. V. M. de Jongl; M. H. Riivekamp; N. M. A. Bax; J. D. van Gool

1994-01-01

81

Analysis and Classification of Cerebellar Malformations  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Because of improved visualization of posterior fossa struc- tures with MR imaging, cerebellar malformations are recognized with increasing frequency. Herein we attempt to describe and propose a rational classification of cerebellar malformations. METHODS: MR images obtained in 70 patients with cerebellar malformations were retro- spectively reviewed. The cerebellar malformations were initially divided into those with hyp- oplasia

Sandeep Patel; A. James Barkovich

2002-01-01

82

Epidemiologic characteristics of kidney malformations  

Microsoft Academic Search

Infants with kidney agenesis or dysgenesis, infants with cystic kidneys, and infants with horse-shoe kidneys were studied, based on data from three large and population-based congenital malformation registers: a total of 2666 infants among 5.83 million births. There is a strong variability between programs of the rates of registered unilateral kidney malformations and these are strongly over-represented in dead infants

John Harris; Elisabeth Robert; Bengt Källén

2000-01-01

83

Congenital malformations of human dermatoglyphs  

PubMed Central

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

David, T. J.

1973-01-01

84

Neuroradiological diagnosis of Chiari malformations  

Microsoft Academic Search

Chiari malformations 1, 2, 3 represent different degrees of herniation of posterior fossa content into the cervical canal\\u000a (Chiari 1 and 2), or through an upper-cervical meningocele (Chiari 3), whereas Chiari 4 anomaly consists of hypoplasia of\\u000a the cerebellum. Chiari 1 malformation (CM1) is the commonest anomaly; it is probably related to a mesodermal defect that create\\u000a a congenitally small

Luisa Chiapparini; Veronica Saletti; Carlo Lazzaro Solero; Maria Grazia Bruzzone; Laura Grazia Valentini

85

[Unruptured brain arteriovenous malformations].  

PubMed

Cerebral arteriovenous malformations (AVMs) often become symptomatic in young adults with a variety of neurological symptoms such as epileptic seizures, recurrent headaches, progressive neurological deficits or sudden intracranial hemorrhage. However, recent epidemiological data suggest a large number of AVMs are found without signs of hemorrhage and a relatively low rupture risk of less than 1% per year. Continuous technical progress has led to several specific treatment options for brain AVMs including endovascular embolization, microneurosurgery, and stereotactic radiotherapy, either alone or in any combination. Depending on AVM topography and vascular anatomy, interventional treatment strategies have shown successful occlusion rates ranging between 50 and 100% and a relatively low average procedural morbidity of 10% overall. For unruptured brain AVMs, however, the clinical benefit of invasive treatment remains as yet to be determined. To address this issue, A randomized trial of unruptured brain AVMs (ARUBA) is currently underway evaluating long-term outcome of best possible standard interventional therapy as compared to the natural history risk in a prospective multidisciplinary international study (www.arubastudy.org). PMID:18786684

Stapf, C

2008-09-10

86

Generalised splitting of spacetime  

NASA Astrophysics Data System (ADS)

Normally, when a spacetime splitting is considered the ADM 3+1 split is brought to mind. In this paper, the idea of spacetime splitting is extended to include anm + n splitting of spacetime. The global spacetime has dimension (m + n) and the foliating spaces have dimensionm. There aren independent normals to each of these foliating spaces, thus givingn different extrinsic curvatures. The generalised Gauss-Weingarten and the generalised Gauss-Codazzi equations associated with this splitting are derived. These generalised equations reduce to the familar ADM equations when a 3+1 split is considered. The generalised equations are found to have a particularly elegant form when an orthogonal splitting of spacetime is examined.

McManus, Des J.

1992-06-01

87

Increased pulsatile movement of the hindbrain in syringomyelia associated with the Chiari malformation: cine-MRI with presaturation bolus tracking  

Microsoft Academic Search

Cine-MRI with presaturation bolus tracking was used in patients with syringomyelia associated with a Chiari malformation to study pulsatile movement of the hindbrain, cervical spinal cord, cerebrospinal fluid and the fluid within the syrinx. Nine patients had 13 examinations, 6 preoperative, 3 after syringosubarachnoid shunting and 4 after posterior fossa decompression. Five controls were also examined. Dynamic display of the

S. Terae; K. Miyasaka; S. Abe; H. Abe; K. Tashiro

1994-01-01

88

Results of the section of the filum terminale in 20 patients with syringomyelia, scoliosis and Chiari malformation  

Microsoft Academic Search

Summary Background. Spinal cord traction caused by a tight filum terminale may be considered a pathogenic mechanism involved in the development of syringomyelia, the Chiari malformation (type I) and scoliosis. Section of the filum terminale is proposed as a useful surgical approach in these conditions.

M. B. Royo-Salvador; J. Solé-Llenas; J. M. Doménech; R. González-Adrio

2005-01-01

89

[Unusual presentation of rib malformation].  

PubMed

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

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

2012-10-01

90

Spinal Cord Injuries  

MedlinePLUS

Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals ... forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries ...

91

Spinal Cord Diseases  

MedlinePLUS

Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals ... of the spine, this can also injure the spinal cord. Other spinal cord problems include Tumors Infections ...

92

Spinal Cord Infarction  

MedlinePLUS

... Contact NINDS Adobe Reader Microsoft Word Viewer NINDS Spinal Cord Infarction Information Page Table of Contents (click ... is being done? Clinical Trials Organizations What is Spinal Cord Infarction? Spinal cord infarction is a stroke ...

93

Compartmentalization of massive vascular malformations.  

PubMed

A total of 18 patients with massive vascular malformations of the head and neck region were treated with compartmentalization using nonabsorbable sutures followed by injection of a sclerosant agent into each compartment. The indication for compartmentalization was either to stop potentially uncontrollable, life-threatening hemorrhage during the dissection of the lesion or to reduce its vascularity to allow a less dangerous subsequent resection. Compartmentalization was used in both high-flow and low-flow vascular malformations. In this technique, large nonabsorbable sutures are placed deeply in multiple areas within the lesion. The aim is to divide the malformation into multiple compartments by changing the direction of the suturing; in this way the sclerosing agent is provided with a more effective environment. The sclerosant used was either sodium tetradecyl sulfate 3%, absolute alcohol, or both. The total amount of infiltrate varied from 3 to 35 cc, according to the size of malformation. After compartmentalization, swelling was the most noticeable complication. With this technique, it was possible to treat what were considered untreatable malformations using standard techniques and to control the inevitable serious bleeding. PMID:15622226

Jackson, Ian T; Keskin, Mustafa; Yavuzer, Reha; Kelly, Christopher P

2005-01-01

94

Arteriovenous malformations: ethanolamine oleate sclerotherapy.  

PubMed

Peripheral vascular malformations are now described according to some accepted guidelines, and the principle of proper treatment (nodus ablation) is becoming clear. An appropriate classification schema for vascular anomalies and definite indications for treatment are important to successful treatment overall. Non-invasive imaging (US, CT, and MRI) in association with clinical findings is critical in establishing the diagnosis, evaluating the extent of the malformation, and planning appropriate treatment. Direct nidus phlebography is useful not only in making a correct diagnosis but also in treating the lesion by sclerotherapy. When a patient suffers clinical complications, the nidus sclerotherapy becomes mandatory. If the vascular malformation remains bloodstream to a drainage vein during nidus opacification, flow control is necessary to achieve complete nidus ablation. A multidisciplinary approach is needed in the treatment of a high-flow lesion. A dedicated team approach is necessary for appropriate management in most cases. PMID:17988037

Hyodoh, H; Hyodoh, K

2007-01-01

95

Arteriovenous Malformation of the Pancreas  

PubMed Central

Pancreatic arteriovenous malformation (PAVM) is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

Charalabopoulos, Alexandros; Macheras, Nikolas; Krivan, Sylvia; Petropoulos, Konstantinos; Misiakos, Evangelos; Macheras, Anastasios

2011-01-01

96

Glioblastoma Mimicking an Arteriovenous Malformation  

PubMed Central

Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3?years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately found to have an extensive glioblastoma associated with abnormal tumor vasculature. The case emphasizes the need for magnetic resonance imaging to investigate angiography-negative SAH in suspicious cases to rule out occult etiologies, such as neoplasm. We also discuss diagnostic pitfalls when brain tumors are associated with hemorrhage and abnormal vasculature.

Khanna, Arjun; Venteicher, Andrew S.; Walcott, Brian P.; Kahle, Kristopher T.; Mordes, Daniel A.; William, Christopher M.; Ghogawala, Zoher; Ogilvy, Christopher S.

2013-01-01

97

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.  

PubMed

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 farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844

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

98

Split Liver Transplantation  

Microsoft Academic Search

Seventy-five thousand Americans develop organ failure each year. Fifteen percent of those on the list for transplantation die while waiting. Several possible mechanisms to expand the organ pool are being pursued including the use of extended criteria donors, living donation, and split deceased donor transplants. Cadaveric organ splitting results from improved understanding of the surgical anatomy of the liver derived

H. Yersiz; A. M. Cameron; I. Carmody; M. A. Zimmerman; B KELLYJR; R. M. Ghobrial; D. G. Farmer; R. W. Busuttil

2006-01-01

99

Codes of split type  

NASA Astrophysics Data System (ADS)

Generalizing a way to construct Golay codes, codes of split type are defined. A lot of interesting codes, for example, extremal codes of length n ? 40 such as Golay codes and binary doubly even self-dual codes [48, 24, 12], [72, 36, w] with w ? 12, are represented as codes of split type.

Kimizuka, Maro; Sasaki, Ryuji

100

Thyroglobulin in cord blood  

Microsoft Academic Search

The cord thyroglobulin (Tg) concentration was estimated in 160 full-term newborns of whom 103 were delivered normally, 26 by elective Ceasarean section and 31 by vacuum extraction. There was no correlation between the median cord Tg concentration and gestational age at delivery (37–43 weeks), birth weight or sex of the child or the median cord TSH concentration. The median cord

U.-B. Ericsson; S.-A. Ivarsson; P.-H. Persson

1987-01-01

101

Cyclopism as a Hereditary Malformation  

Microsoft Academic Search

CYCLOPISM is a malformation which has been recognized for many years and which may have furnished the model for the Homeric monsters. It has been suggested that this developmental disorder is hereditary, but until recently there has been no proof of this.

Peter Pfitzer; Horst Müntefering

1968-01-01

102

Split liver transplantation.  

PubMed Central

OBJECTIVE: This study reviews the indications, technical aspects, and experience with ex vivo and in situ split liver transplantation. BACKGROUND: The shortage of cadaveric donor livers is the most significant factor inhibiting further application of liver transplantation for patients with end-stage liver disease. Pediatric recipients, although they represent only 15% to 20% of the liver transplant registrants, suffer the greatest from the scarcity of size-matched cadaveric organs. Split liver transplantation provides an ideal means to expand the donor pool for both children and adults. METHODS: This review describes the evolution of split liver transplantation from reduced liver transplantation and living-related liver transplantation. The two types of split liver transplantation, ex vivo and in situ, are compared and contrasted, including the technique, selection of patients for each procedure, and the most current results. RESULTS: Ex vivo splitting of the liver is performed on the bench after removal from the cadaver. It is usually divided into two grafts: segments 2 and 3 for children, and segments 4 to 8 for adults. Since 1990, 349 ex vivo grafts have been reported. Until recently, graft and patient survival rates have been lower and postoperative complication rates higher in ex vivo split grafts than in whole organ cadaveric transplantation. Further, the use of ex vivo split grafts has been relegated to the elective adult patient because of the high incidence of graft dysfunction (right graft) when placed in an emergent patient. Reasons for the poor function of ex vivo splits except in elective patients have focused on graft damage due to prolonged cold ischemia times and rewarming during the long benching procedure. In situ liver splitting is accomplished in a manner identical to the living donor procurement. This technique for liver splitting results in the same graft types as in the ex vivo technique. However, graft and patient survival rates reported for in situ split livers have exceeded 85% and 90%, respectively, with a lower incidence of postoperative complications, including biliary and reoperation for bleeding. These improved results have also been observed in the urgent patient. CONCLUSION: Splitting of the cadaveric liver expands the donor pool of organs and may eliminate the need for living-related donation for children. Recent experience with the ex vivo technique, if applied to elective patients, results in patient and graft survival rates comparable to whole-organ transplantation, although postoperative complication rates are higher. In situ splitting provides two grafts of optimal quality that can be applied to the entire spectrum of transplant recipients: it is the method of choice for expanding the cadaver liver donor pool.

Busuttil, R W; Goss, J A

1999-01-01

103

Giant umbilical cord edema caused by retrograde micturition through an open patent urachus.  

PubMed

A giant umbilical cord is a rare finding in mature newborns and originates from different developmental etiologies. We report on a case of a mature female newborn presenting a 50 × 8-cm giant umbilical cord without further malformations. Antenatal sonographic findings of a diffuse giant umbilical cord, elevated creatinine levels of 1.3 mg/dL in umbilical cord edema, gross and histopathological findings of allantoic remnants, and umbilical urinary discharge lead to the diagnosis of a patent urachus with retrograde micturition into the umbilical cord. Postnatal surgical repair was required. In antenatal sonography, cystic and diffuse changes should be considered in the differential diagnosis of a giant umbilical cord. In cases of diffuse enlargement, elevated umbilical creatinine can support the diagnosis of a patent urachus with open leakage into the Wharton's jelly. Appropriate surgical management is required. PMID:20085482

Schaefer, Inga-Marie; Männer, Jörg; Faber, Renaldo; Loertzer, Hagen; Füzesi, László; Seeliger, Stephan

2010-01-19

104

Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult.  

PubMed

Neuroimaging studies for persons in the National Collaborative Chicago-Based Congenital Toxoplasmosis Study (NCCCTS) with symptoms and signs referable to the spinal cord were reviewed. Three infants had symptomatic spinal cord lesions, another infant a Chiari malformation, and another infant a symptomatic peri-spinal cord lipoma. One patient had an unusual history of prolonged spinal cord symptoms presenting in middle age. Neuroimaging was used to establish her diagnosis and response to treatment. This 43 year-old woman with congenital toxoplasmosis developed progressive leg spasticity, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease. At 52 years of age, spinal cord lesions in locations correlating with her symptoms and optic atrophy were diagnosed with 3 Tesla MRI scan. Treatment with pyrimethamine and sulfadiazine decreased her neurologic symptoms, improved her neurologic examination, and resolved her enhancing spinal cord lesions seen on MRI. PMID:23487348

Burrowes, Delilah; Boyer, Kenneth; Swisher, Charles N; Noble, A Gwendolyn; Sautter, Mari; Heydemann, Peter; Rabiah, Peter; Lee, Daniel; McLeod, Rima

2012-03-01

105

Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult  

PubMed Central

Neuroimaging studies for persons in the National Collaborative Chicago-Based Congenital Toxoplasmosis Study (NCCCTS) with symptoms and signs referable to the spinal cord were reviewed. Three infants had symptomatic spinal cord lesions, another infant a Chiari malformation, and another infant a symptomatic peri-spinal cord lipoma. One patient had an unusual history of prolonged spinal cord symptoms presenting in middle age. Neuroimaging was used to establish her diagnosis and response to treatment. This 43 year-old woman with congenital toxoplasmosis developed progressive leg spasticity, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease. At 52 years of age, spinal cord lesions in locations correlating with her symptoms and optic atrophy were diagnosed with 3 Tesla MRI scan. Treatment with pyrimethamine and sulfadiazine decreased her neurologic symptoms, improved her neurologic examination, and resolved her enhancing spinal cord lesions seen on MRI.

Burrowes, Delilah; Boyer, Kenneth; Swisher, Charles N.; Noble, A. Gwendolyn; Sautter, Mari; Heydemann, Peter; Rabiah, Peter; Lee, Daniel; McLeod, Rima

2012-01-01

106

Baroclinic splitting of jets  

NASA Astrophysics Data System (ADS)

Whether the split of the Somali jet, sometimes seen on monthly mean streamline analyses, is a climatological or a dynamical feature has been the subject of long-standing debate. This paper explores the dynamical conditions leading to a split jet within the framework of a simple barotropic dynamic system. The initial conditions for the dynamical system, along with three other parameters the jet width, the zonal wavelength, and the latitude of the ?-plane, form a parameter space for the problem consisting of a range of solutions for the evolution of the jet. This paper identifies a region in the parameter space in which these solutions support a splitting of the jet. The width and wavelength of the Somali jet determined from observations are such that for most initial conditions the solutions reside near the boundary in parameter space between the split and non-split regions. It is therefore concluded that the splitting of the Somali jet can be a dynamical feature given the observed jet width and wavelength. Whether a split does or does not occur is determined by the parameters defining the initial zonal mean and perturbation flow in the jet, with the solution being highly sensitive to these initial conditions.

Thompson, A.; Stefanova, L.; Krishnamurti, T. N.

2008-08-01

107

Risk factors associated with true knots of the umbilical cord  

Microsoft Academic Search

Objective: To determine obstetrical risk factors and pregnancy outcome of fetuses with true knot of the umbilical cord. Methods: Study population included 69,139 singleton deliveries occurring between the years 1990–1997. Data were retrieved from the database of the Soroka University Medical Center. Fetuses with malformations were excluded. Results: The incidence of true knots was 1.2% (841\\/69,139). In a multivariate analysis

Reli Hershkovitz; Tali Silberstein; Eyal Sheiner; Ilana Shoham-Vardi; Gershon Holcberg; Miriam Katz; Moshe Mazor

2001-01-01

108

Instantons and splitting  

SciTech Connect

In this paper we compare various formulas for the leading term of the amplitude of the splitting of the eigenvalues of semiclassical Schr{umlt o}dinger operators with multiple wells. {copyright} {ital 1997 American Institute of Physics.}

Sordoni, V. [Dipartimento di Matematica, Universita di Bologna, Piazza di Porta S. Donato, 5, 40127 Bologna (Italy)

1997-02-01

109

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

PubMed

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

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

2011-12-01

110

Detonating cord stowage system  

US Patent & Trademark Office Database

A rocket-launched line charge apparatus for obstacle breaching includes at least two explosive charges connected by detonating cord. The detonating cord passes through a flexible tubing, and is bunched in a sinuous arrangement within the plastic tubing so as to store excess detonating cord. The detonating cord is attached to the two ends of the flexible tubing by cable ties. The explosive charges, the tubing and the detonating cord are enclosed in a fabric sock formed by overbraiding, the fabric sock being the strength member connecting the two explosive charges during deployment. The plastic tubing arrangement is applicable to storage of other cords in other systems involving tethered deployment of objects.

2001-12-04

111

The management of arteriovenous malformations.  

PubMed

Arteriovenous malformations (AVM) can occur in the entire central nervous system with a predilection of the supratentorial intracranial compartment. Intracerebral hemorrhage is the most common clinical presentation of AVM and associated with a high morbidity and mortality rate. Correct management of these lesions is therefore of utmost importance. In this review, the authors present actual diagnostic and interdisciplinary treatment modalities based on their experience in a major neurovascular center and taking into consideration actual literature data. Different treatment strategies are discussed. PMID:21464810

Sandalcioglu, I E; Wanke, I; Zappala, V; Forsting, M; Sure, U

2011-03-01

112

Complete microsurgical excision of cervical extramedullary and intramedullary vascular malformations.  

PubMed

Eleven patients with vascular malformations of the cervical spinal cord have been operated upon at the University of Zürich. Total microsurgical excision was achieved in all. One patient had a lesion which was entirely intramedullary. Nine patients had combined lesions, intramedullary and extramedullary. Only one patient had a lesion which was entirely extramedullary. There was one operative death from meningitis. Another patient improved slightly postoperatively, but eventually died of urological complications. One patient had the operation immediately following his only subarachnoid hemorrhage, and has thus been protected from neurological damage. One patient has had postoperative reversal of his progressive neurological deterioration and severe pain. Six patients severely impaired preoperatively improved dramatically. One patient who was quadriplegic preoperatively has regained function in her upper extremities. The treatment of choice in lesions such as these is complete microsurgical excision. PMID:1162593

Ya?argil, M G; DeLong, W B; Guarnaschelli, J J

1975-08-01

113

The Chiari II malformation: cause and impact  

Microsoft Academic Search

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

David G. McLone; Mark S. Dias

2003-01-01

114

Radiological Evaluation of Myelomeningocele — Chiari II Malformation  

Microsoft Academic Search

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

Charles Raybaud; Elka Miller

115

umbilical cord blood banking  

Microsoft Academic Search

Current therapeutic uses of umbilical cord blood stem cells and the promise of these cells for the treatment of degenerative diseases in the future have led to the establishment of cord blood banks in many parts of the world. Although umbilical cord blood banking raises many ethical and legal issues, this article focuses on the controversy created by the coexistence

Sylvie Bordet; Linda Kharaboyan; André Lebrun

2007-01-01

116

[Malformations of the esophagus: diagnosis and therapy].  

PubMed

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

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

2013-03-01

117

Split spline screw  

NASA Astrophysics Data System (ADS)

A split spline screw type payload fastener assembly, including three identical male and female type split spline sections, is discussed. The male spline sections are formed on the head of a male type spline driver. Each of the split male type spline sections has an outwardly projecting load baring segment including a convex upper surface which is adapted to engage a complementary concave surface of a female spline receptor in the form of a hollow bolt head. Additionally, the male spline section also includes a horizontal spline releasing segment and a spline tightening segment below each load bearing segment. The spline tightening segment consists of a vertical web of constant thickness. The web has at least one flat vertical wall surface which is designed to contact a generally flat vertically extending wall surface tab of the bolt head. Mutual interlocking and unlocking of the male and female splines results upon clockwise and counter clockwise turning of the driver element.

Vranish, John M.

1993-11-01

118

Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?  

Microsoft Academic Search

As compared with 580 randomly chosen pregnant women without malformed offspring, 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n=54) interviewed, malformation cases (n=98)

Gun Torstensson Nimby; Louise Lundberg; Tomas Sveger; Thomas F McNeil

1999-01-01

119

Subradiant Split Cooper Pairs  

NASA Astrophysics Data System (ADS)

We suggest a way to characterize the coherence of the split Cooper pairs emitted by a double-quantum-dot based Cooper pair splitter (CPS), by studying the radiative response of such a CPS inside a microwave cavity. The coherence of the split pairs manifests in a strongly nonmonotonic variation of the emitted radiation as a function of the parameters controlling the coupling of the CPS to the cavity. The idea to probe the coherence of the electronic states using the tools of cavity quantum electrodynamics could be generalized to many other nanoscale circuits.

Cottet, Audrey; Kontos, Takis; Yeyati, Alfredo Levy

2012-04-01

120

Diffuse malformations of cortical development.  

PubMed

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

Bahi-Buisson, Nadia; Guerrini, Renzo

2013-01-01

121

Umbilical cord prolapse.  

PubMed

Umbilical cord prolapse is an obstetric emergency that can have negative outcomes for the fetus. It is diagnosed by a palpable or visible cord and is often accompanied by severe, rapid fetal heart rate decelerations. Cases of cord prolapse should be delivered as soon as possible, usually by cesarean section. While awaiting delivery, the fetal presenting part should be elevated off the cord either manually or by filling the bladder. Although an untreated case of umbilical cord prolapse can lead to severe fetal morbidity and mortality, prompt and appropriate management leads to good overall outcomes. PMID:23466132

Holbrook, Bradley D; Phelan, Sharon T

2013-03-01

122

Tertiary Lymphoid Organs in Lymphatic Malformations  

PubMed Central

Abstract Background Examine lymphatic malformation lymphoid aggregates for the expression of tertiary lymphoid organ markers. Determine how lymphoid aggregate density relates to lymphatic malformation clinical features. Methods and Results Retrospective cohort study. Tissue and clinical data were reviewed from 29 patients in the Vascular Anomaly Database who represented the spectrum of head and neck lymphatic malformations and had >5 years of follow-up. Archived formalin-fixed, paraffin-embedded lymphatic malformation tissue was immunohistochemically stained with antibodies for tertiary lymphoid organ markers, which included follicular and mature myeloid dendritic cells, high endothelial venules, segregated B and T-cells, lymphatic endothelial cells, and lymphoid homing chemokines (CXCL13, CCL21). Lymphoid aggregate density (count/mm2) was quantified by 2 independent, blinded reviewers. Lymphoid aggregate density and lymphatic malformation clinical features were characterized using analysis of variance. Larger lymphatic malformation tissue lymphoid aggregates stained consistently for tertiary lymphoid organ markers. In oral cavity and neck specimens from the same patients (n?=?9), there were more tertiary lymphoid organ in oral cavity than in neck specimens (p?=?0.0235). In lymphatic malformation neck tissue, de Serres stage 4 lymphatic malformations displayed the highest tertiary lymphoid organ density. No significant association was seen between tertiary lymphoid organ density and other clinical features. Conclusion This study demonstrates that some lymphoid aggregates within lymphatic malformations represent tertiary lymphoid organs. There was an association between tertiary lymphoid organ density and lymphatic malformation location. Further study is required to define the role of lymphoid neogenesis and tertiary lymphoid organ formation in lymphatic malformation pathogenesis.

Kirsh, Andrew L.; Cushing, Sharon L.; Chen, Eunice Y.; Schwartz, Stephen M.

2011-01-01

123

Spinal cord stress injury assessment (SCOSIA): clinical applications of mechanical modeling of the spinal cord and brainstem  

NASA Astrophysics Data System (ADS)

Abnormal stretch and strain is a major cause of injury to the spinal cord and brainstem. Such forces can develop from age-related degeneration, congenital malformations, occupational exposure, or trauma such as sporting accidents, whiplash and blast injury. While current imaging technologies provide excellent morphology and anatomy of the spinal cord, there is no validated diagnostic tool to assess mechanical stresses exerted upon the spinal cord and brainstem. Furthermore, there is no current means to correlate these stress patterns with known spinal cord injuries and other clinical metrics such as neurological impairment. We have therefore developed the spinal cord stress injury assessment (SCOSIA) system, which uses imaging and finite element analysis to predict stretch injury. This system was tested on a small cohort of neurosurgery patients. Initial results show that the calculated stress values decreased following surgery, and that this decrease was accompanied by a significant decrease in neurological symptoms. Regression analysis identified modest correlations between stress values and clinical metrics. The strongest correlations were seen with the Brainstem Disability Index (BDI) and the Karnofsky Performance Score (KPS), whereas the weakest correlations were seen with the American Spinal Injury Association (ASIA) scale. SCOSIA therefore shows encouraging initial results and may have wide applicability to trauma and degenerative disease involving the spinal cord and brainstem.

Wong, Kenneth H.; Choi, Jae; Wilson, William; Berry, Joel; Henderson, Fraser C., Sr.

2009-02-01

124

The Splitting Group  

ERIC Educational Resources Information Center

Piagetian theory describes mathematical development as the construction and organization of mental operations within psychological structures. Research on student learning has identified the vital roles of two particular operations--splitting and units coordination--play in students' development of advanced fractions knowledge. Whereas Steffe and…

Norton, Anderson; Wilkins, Jesse L. M.

2012-01-01

125

Muscle-splitting thoracotomy.  

PubMed

Muscle-splitting thoracotomy avoids transection of the latissimus dorsi and the serratus anterior muscles, thereby decreasing post thoracotomy pain and preserving the function and viability of these two muscles. The exposure provided for most intrathoracic procedures is excellent. PMID:9544153

Sadighi, P J; Woodworth, C S

1998-04-01

126

Splitting of asphaltene species  

SciTech Connect

The extent of splitting of asphaltene species under the action of solvents correlates with their nature, and primarily with their electron- and proton-donor properties. According to the data of thermal analysis asphaltene species being retained after the action of solvents differ in the weight ratio of peripheral substituents to condensed part and in the fraction of labile bonds. 12 refs., 4 tabs.

Galimov, R.A.; Yusupova, T.N.; Abushaeva, V.V. [A.E. Inst. of Organic and Physical Chemistry, Kazan (Russian Federation)] [and others

1994-05-10

127

Secret Sharing and Splitting  

Microsoft Academic Search

From nuclear weapons to governments to class projects, the prob- lem of mistrust in any working relationship requires a secure system to prevent access, power, or information from being compromised by a single member, or a small group of members. While our project does not claim unbreakable security for high-level government secrets, the concept of Secret Sharing or Secret Splitting

Laurence Grant; Brian Fleming

128

Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.  

PubMed

Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital. PMID:23933248

Català, A; Roé, E; Vikkula, M; Baselga, E

2013-08-08

129

Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?  

PubMed

As compared with 580 randomly chosen pregnant women without malformed offspring. 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n = 54) interviewed, malformation cases (n = 98) reported having had significantly more strong stress before identification of the malformation, as well as a clear tendency toward less appropriate timing of the pregnancy. Women with malformed offspring represent a psychosocially vulnerable group and should receive special clinical and personal support. PMID:10404467

Nimby, G T; Lundberg, L; Sveger, T; McNeil, T F

130

A Framework for Detecting Malformed SMS Attack  

Microsoft Academic Search

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

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

2011-01-01

131

Congenital malformations due to antiepileptic drugs  

Microsoft Academic Search

To identify the major risk factors for the increased incidence of congenital malformations in offspring of mothers being treated for epilepsy with antiepileptic drugs (AEDs) during pregnancy and, to determine the relative teratogenic risk of AEDs, we prospectively analyzed 983 offspring born in Japan, Italy, and Canada. The incidence of congenital malformations in offspring without drug exposure was 3.1%, versus

S Kaneko; D Battino; E Andermann; K Wada; R Kan; A Takeda; Y Nakane; Y Ogawa; G Avanzini; C Fumarola; T Granata; F Molteni; G Pardi; L Minotti; R Canger; L Dansky; M Oguni; I Lopes-Cendas; A Sherwin; F Andermann; M.-H Seni; M Okada; T Teranishi

1999-01-01

132

Early presentation of an extremity arteriovenous malformation  

Microsoft Academic Search

We report a very rare case of a high flow arteriovenous malformation (AVM) of the upper limb that caused high output cardiac failure at birth. There was early transfer of the baby to the care of a multidisciplinary team. After radiological intervention, the arm distal to the malformation became ischaemic and an urgent amputation through the upper-humerus followed. Methods of

Jill B. Webb; Mary O'Brien; Philip R. John; Hiroshi Nishikawa

2004-01-01

133

Imaging of head and neck venous malformations  

Microsoft Academic Search

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated

Christine M. Flis; Stephen E. Connor

2005-01-01

134

Maternal Age and Malformations in Singleton Births  

Microsoft Academic Search

Objective: To examine the effect of maternal age on inci- dence of nonchromosomal fetal malformations. Methods: Malformations detected at birth or in the new- born nursery were catalogued prospectively for 102,728 pregnancies, including abortions, stillbirths, and live births, from January 1, 1988 to December 31, 1994. Maternal age was divided into seven epochs. Relative risks (RRs) were used to compare

LISA M. HOLLIER; KENNETH J. LEVENO; MARY ANN KELLY; DONALD D. MCINTIRE; F. GARY CUNNINGHAM

2000-01-01

135

Maternal age and malformations in singleton births  

Microsoft Academic Search

Objective: To examine the effect of maternal age on incidence of nonchromosomal fetal malformations.Methods: Malformations detected at birth or in the newborn nursery were catalogued prospectively for 102,728 pregnancies, including abortions, stillbirths, and live births, from January 1, 1988 to December 31, 1994. Maternal age was divided into seven epochs. Relative risks (RRs) were used to compare demographic variables and

Lisa M Hollier; Kenneth J Leveno; Mary Ann Kelly; Donald D MCIntire; F. Gary Cunningham

2000-01-01

136

Identification of brain malformations: neuropathological approach  

Microsoft Academic Search

IntroductionThe sophistication of prenatal brain imaging (US, MRI) has awakened interest in fetal neuropathology and changed the concept of brain malformations, defined until recently through descriptive terms and considered as senseless accidents of development. Usually, most CNS malformations are documented from a clinical and radiological point of view. However, only a detailed neuropathological study permits their exact phenotype to be

Férechté Encha-Razavi

2003-01-01

137

Split-brain madness  

Microsoft Academic Search

With “facts” and metaphors regarding differential functioning of our two hemispheres proliferating faster than our understanding, the potential for a new insanity defense to emerge to fit certain Jekylland-Hyde-like defendants clearly exits. And with psychologists of varying stripes entering the courtroom with greater frequency and in newer capacities, the dangers of entanglement and error grow. This paper analyzes a split-brain

Norman J. Finkel; Steven R. Sabat

1984-01-01

138

Mini-Split  

NASA Astrophysics Data System (ADS)

The lack of evidence for new physics beyond the standard model at the LHC points to a paucity of new particles near the weak scale. This suggests that the weak scale is tuned and that supersymmetry, if present at all, is realized at higher energies. The measured Higgs mass constrains the scalar sparticles to be below 105 TeV, while gauge coupling unification favors Higgsinos below 100 TeV. Nevertheless, in many models gaugino masses are suppressed and remain within reach of the LHC. Tuning the weak scale and the renormalization group evolution of the scalar masses constrain Split model building. Due to the small gaugino masses, either the squarks or the up-higgs often run tachyonic; in the latter case, successful electroweak breaking requires heavy higgsinos near the scalar sparticles. We discuss the consequences of tuning the weak scale and the phenomenology of several models of Split supersymmetry including anomaly mediation, U(1) B-L mediation, and Split gauge mediation.

Arvanitaki, Asimina; Craig, Nathaniel; Dimopoulos, Savas; Villadoro, Giovanni

2013-02-01

139

Intramedullary spinal cord tumors  

Microsoft Academic Search

Opinion statement  The three most common types of intramedullary spinal cord tumors are low-grade astrocytomas, ependymomas, and high-grade astrocytomas.\\u000a Surgical extirpation is the necessary and sufficient primary treatment for most intramedullary spinal cord tumors. Radiation\\u000a therapy may also have a role in the management of persistent, recurrent, or progressive low-grade astrocytomas and ependymomas.\\u000a The current treatment of spinal cord high-grade astrocytomas,

Daniel C. Bowers; Bradley E. Weprin

2003-01-01

140

Interventional occlusion of congenital vascular malformations  

Microsoft Academic Search

Background  New materials and devices have been used in the management of cardiac malformations. In this paper, we present our experience\\u000a with interventional occlusion of congenital vascular malformations.\\u000a \\u000a \\u000a \\u000a Methods  Between January 1997 and December 2005, 139 patients with congenital vascular malformations who had undergone interventional\\u000a occlusion in the Children’s Hospital, Zhejiang University School of Medicine were studied. The clinical data of the

Chun-Hong Xie; Cheng-Sen Xia; Fang-Qi Gong; Yin-Bao Zhou; Wei-Hua Zhu

2009-01-01

141

Fetal MRI clues to diagnose cloacal malformations  

Microsoft Academic Search

Background  Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis.\\u000a \\u000a \\u000a \\u000a Objective  To define the prenatal MRI findings in cloacal malformations.\\u000a \\u000a \\u000a \\u000a Materials and methods  We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution.\\u000a Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was

Maria A. Calvo-Garcia; Beth M. Kline-Fath; Marc A. Levitt; Foong-Yen Lim; Leann E. Linam; Manish N. Patel; Steven Kraus; Timothy M. Crombleholme; Alberto Peña

142

ROTATIONAL SPLITTING OF PULSATION MODES  

SciTech Connect

Mode splittings produced by uniform rotation and a particular form of differential rotation are computed for two-dimensional rotating 10 M{sub sun} zero-age main sequence stellar models. The change in the character of the mode splitting is traced as a function of uniform rotation rate, and it is found that only relatively slow rotation rates are required before the mode splitting becomes asymmetric about the azimuthally symmetric (m = 0) mode. Increased rotation produces a progressively altered pattern of the individual modes with respect to each other. Large mode splittings begin to overlap with the mode splittings produced by different radial and latitudinal modes at relatively low rotation rates. The mode-splitting pattern for the differentially rotating stars we model is different than that for uniformly rotating stars, making the mode splitting a possible discriminant of the internal angular momentum distribution if one assumes that the formidable challenge of mode identification can be overcome.

Deupree, Robert G.; Beslin, Wilfried, E-mail: bdeupree@ap.smu.c [Institute for Computational Astrophysics, Department of Astronomy and Physics, Saint Mary's University, Halifax, NS B3H 3C3 (Canada)

2010-10-01

143

PHOTOSYNTHESIS: Splitting Water  

NSDL National Science Digital Library

Access to the article is free, however registration and sign-in are required. Photosynthetic water oxidation is the largest global source of atmospheric O2 and provided the impetus for the evolution of complex life on Earth. In his Perspective, Dismukes highlights the recent publication of a structural model of the polypeptide subunit organization of the enzyme responsible for this reaction. These results, which are based on x-ray crystallographic data, provide hope that a detailed atomic model of the water-splitting catalyst should be forthcoming.

G. C. Dismukes (Princeton University;Department of Chemistry and the Princeton Environmental Institute)

2001-04-20

144

Huge arteriovenous malformation in masseter muscle.  

PubMed

Arteriovenous malformation is a tumor characterized by direct connection between an artery and vein without capillaries in-between, and it is commonly located intracranially. Intramuscular arteriovenous malformations are rare in the head and neck region. Less than 1% of the vascular tumors are localized in a muscle, 15% of them are in the head and neck muscles. Among the head and neck muscles, masseter muscle is the most common location, with the rate of 4.9%. The condition of a 36-year-old patient who applied to our clinic with the complaints of progressively increasing pain and progressively growing mass in the right cheek that appeared 1.5 years ago was diagnosed as arteriovenous malformation located in the masseter muscle. After preoperative embolization, the mass was successfully treated with total excision. In this case report, diagnostic and therapeutic tools addressing arteriovenous malformation located in the masseter muscle are discussed in the light of current literature. PMID:19625853

Karaman, Emin; Mercan, Hasan; Ozdilek, Alper; Alimoglu, Yalcin; Korkut, Nazim

2009-07-01

145

Chiari malformation with thick occipital bone.  

PubMed

A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression. PMID:21339798

Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao

2011-02-01

146

Maternal diabetes mellitus and infant malformations  

Microsoft Academic Search

OBJECTIVE:To investigate the effects of pregestational, as opposed to gestational, diabetes on infant malformations.METHODS:All women delivering infants at Parkland Hospital between January 1, 1991, and December 31, 2000, were ascertained. Screening for gestational diabetes was methodically employed throughout the study period using National Diabetes Data Group criteria for diagnosis of pregestational and gestational diabetes. Standardized definitions of major infant malformations

Jeanne S Sheffield; Erin L Butler-Koster; Brian M Casey; Donald D McIntire; Kenneth J Leveno

2002-01-01

147

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

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

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

2012-01-01

148

Dorsal midline proboscis associated with diastematomyelia and tethered cord syndrome. Case report.  

PubMed

There have been sporadic reports on tail proboscis, a vestigial appendage, as part of sacrococcygeal dysraphism. The case the authors present, different from the tail proboscis, is the first report linking a proboscis containing a hemilipomyelomeningocele with tethered cord syndrome, associated with diastematomyelia. Tethering was caused by the diastematomyelia that anchored the split spinal cord. The authors emphasize the importance of prompt diagnostic and therapeutic measures for treatment of this condition. PMID:8814181

Yamada, S; Mandybur, G T; Thompson, J R

1996-10-01

149

Splitting (complicated) surfaces is hard  

Microsoft Academic Search

Let M be an orientable combinatorial surface. A cycle on M is splitting if it has no self-intersections and it partitions M into two components, neither of which is homeomorphic to a disk. In other words, splitting cycles are simple, separating, and non-contractible. We prove that finding the shortest splitting cycle on a combinatorial surface is NP-hard but fixed-parameter tractable

Erin W. Chambers; Éric Colin De Verdière; Jeff Erickson; Francis Lazarus; Kim Whittlesey

2008-01-01

150

Splitting (complicated) surfaces is hard  

Microsoft Academic Search

Let M be an orientable surface without boundary. A cycle on M is splitting if it has no self-intersections and it partitions M into two components, neither homeomorphic to a disk. In other words, splitting cycles are simple, separating, and non-contractible. We prove that finding the shortest splitting cycle on a combinatorial surface is NP-hard but fixed-parameter tractable with respect

Erin W. Chambers; Éric Colin De Verdière; Jeff Erickson; Francis Lazarus; Kim Whittlesey

2006-01-01

151

Pregnancy Complications: Umbilical Cord Abnormalities  

MedlinePLUS

... cord as he passes through the cervix and vagina during labor and delivery. Pressure on the cord reduces or cuts off ... cord while preparing the woman for prompt cesarean delivery. The risk of umbilical cord prolapse increases if: The baby is in a breech (foot-first) position. The woman is in preterm ...

152

Twisted Split Fermions  

SciTech Connect

The observed flavor structure of the standard model arises naturally in ''split fermion'' models which localize fermions at different places in an extra dimension. It has, until now, been assumed that the bulk masses for such fermions can be chosen to be flavor diagonal simultaneously at every point in the extra dimension, with all the flavor violation coming from the Yukawa couplings to the Higgs. We consider the more natural possibility in which the bulk masses cannot be simultaneously diagonalized, that is, that they are twisted in flavor space. We show that, in general, this does not disturb the natural generation of hierarchies in the flavor parameters. Moreover, it is conceivable that all the flavor mixing and CP-violation in the standard model may come only from twisting, with the five-dimensional Yukawa couplings taken to be universal.

Grossman, Yuval; Harnik, Roni; Perez, Gilad; Schwartz, MatthewD.; Surujon, Ze'ev

2004-07-30

153

Split-Volume Treatment Planning of Multiple Consecutive Vertebral Body Metastases for Cyberknife Image-Guided Robotic Radiosurgery  

SciTech Connect

Cyberknife treatment planning of multiple consecutive vertebral body metastases is challenging due to large target volumes adjacent to critical normal tissues. A split-volume treatment planning technique was developed to improve the treatment plan quality of such lesions. Treatment plans were generated for 1 to 5 consecutive thoracic vertebral bodies (CVBM) prescribing a total dose of 24 Gy in 3 fractions. The planning target volume (PTV) consisted of the entire vertebral body(ies). Treatment plans were generated considering both the de novo clinical scenario (no prior radiation), imposing a dose limit of 8 Gy to 1 cc of spinal cord, and the retreatment scenario (prior radiation) with a dose limit of 3 Gy to 1 cc of spinal cord. The split-volume planning technique was compared with the standard full-volume technique only for targets ranging from 2 to 5 CVBM in length. The primary endpoint was to obtain best PTV coverage by the 24 Gy prescription isodose line. A total of 18 treatment plans were generated (10 standard and 8 split-volume). PTV coverage by the 24-Gy isodose line worsened consistently as the number of CVBM increased for both the de novo and retreatment scenario. Split-volume planning was achieved by introducing a 0.5-cm gap, splitting the standard full-volume PTV into 2 equal length PTVs. In every case, split-volume planning resulted in improved PTV coverage by the 24-Gy isodose line ranging from 4% to 12% for the de novo scenario and, 8% to 17% for the retreatment scenario. We did not observe a significant trend for increased monitor units required, or higher doses to spinal cord or esophagus, with split-volume planning. Split-volume treatment planning significantly improves Cyberknife treatment plan quality for CVBM, as compared to the standard technique. This technique may be of particular importance in clinical situations where stringent spinal cord dose limits are required.

Sahgal, Arjun [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States)], E-mail: arjunsahgal@yahoo.com; Chuang, Cynthia; Larson, David; Huang, Kim; Petti, Paula [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States); Weinstein, Phil [Department of Neurologic Surgery, University of California San Francisco, San Francisco, CA (United States); Ma Lijun [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States)

2008-10-01

154

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

PubMed Central

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

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

2010-01-01

155

Sample Splitting and Threshold Estimation  

Microsoft Academic Search

Threshold models have a wide variety of applications in economics. Direct applications include models of separating and multiple equilibria. Other applications include empirical sample splitting when the sample split is based on a continuously-distributed variable such as firm size. In addition, threshold models may be used as a parsimonious strategy for nonparametric function estimation. For example, the threshold autoregressive model

Bruce E. Hansen

2000-01-01

156

[Two cases of spinal arteriovenous malformation presenting with subarachnoid hemorrhage].  

PubMed

Two cases of spinal arteriovenous malformation (AVM) with subarachnoid hemorrhage (SAH) are reported. The first case is that of a 14-year-old boy who was transferred to our hospital with a sudden onset of headache. Neurological examination revealed no motosensory deficit, but a brain CT showed a slight diffuse SAH. A left vertebral angiogram demonstrated intramedullary AVM in the cervical region of the spinal cord. This AVM was therefore occluded using a solid embolization material. The patient was then discharged without neurological deficit. The second case is that of a 67-year-old man who visited our hospital with a sudden onset of headache. Neurological examination revealed no motor or sensory deficit, but a brain CT showed SAH, which was dominant in the posterior fossa. Initial cerebral angiography demonstrated no abnormality such as cerebral aneurysm or AVM except for laterality of the C1 radiculo-meningeal artery. A second angiogram on day 11 demonstrated spinal arteriovenous fistula (AVF), which was fed by the left radiculo-meningeal artery and drained to the posterior spinal vein. Embolization for the AVF was performed using liquid material. He was then discharged without neurological deficit. These two cases revealed non-specific SAH symptoms and were indistinguishable from other ruptured aneurysms. Although the brain CT can show a slight SAH or posterior fossa dominant SAH, repeated angiography may be necessary to verify and conclude the diagnosis of spinal AVM. PMID:15352630

Hayashi, Kentaro; Takahata, Hideaki; Nakamura, Minoru

2004-06-01

157

Extradural tumor causing spinal cord compression in Klippel-Trenaunay-weber syndrome  

Microsoft Academic Search

BACKGROUNDMyelopathy in Klippel-Trenaunay-Weber syndrome is uncommon but has been reported secondary to spinal vascular malformations.REPORTA patient with Klippel-Trenaunay-Weber syndrome who presented with spinal cord compression from a spinal extradural mass lesion (angiomyolipoma) is described.DISCUSSIONThis association has not been reported previously but is consistent with the segmental vascular abnormalities observed in Klippel-Trenaunay-Weber syndrome.

David A Carter; Kitai Kim; Ray A Brinker

1995-01-01

158

Spinal Cord Ischemia  

Microsoft Academic Search

\\u000a Despite many advances and an improved understanding of spinal cord anatomy and the pathogenesis of spinal ischemia, the rates\\u000a of debilitating postoperative paraparesis or paraplegia are still not negligible after an open procedure for treatment of\\u000a thoracic or thoraco-abdominal pathology. Individual studies have demonstrated the role of different treatment modalities to\\u000a prevent or treat spinal cord ischemia; however, a multimodal

Germano Melissano; Luca Bertoglio; Efrem Civilini; Roberto Chiesa

159

Umbilical cord blood transplantation  

Microsoft Academic Search

Over the past decade umbilical cord blood has been established as a viable source of hematopoietic stem cell for allogeneic\\u000a transplantation. Early experience with umbilical cord blood transplantation (CBT) demonstrated a lower incidence of graftversus-host\\u000a disease even though the procedure was performed with HLA-disparate grafts. The overall outcome of CBT appears similar to that\\u000a of allogeneic bone marrow transplant. The

Demetrios Petropoulos; Ka Wah Chan

2005-01-01

160

Umbilical cord blood transplantation  

Microsoft Academic Search

Over the past decade umbilical cord blood has been established as a viable source of hematopoietic stem cells for allogeneic\\u000a transplantation. Early experience with umbilical cord blood transplantation (CBT) demonstrated a lower incidence of graft-versus-host\\u000a disease even though the procedure was performed with HLA-disparate grafts. The overall outcome of CBT appears similar to that\\u000a of allogeneic bone marrow transplantation. The

Demetrios Petropoulos; Ka Wah Chan

2006-01-01

161

Original sagittal split osteotomy revisited for mandibular distraction.  

PubMed

Introduction: A malformed mandible and an abnormally positioned mandibular foramen make it difficult to plan an ideal osteotomy line for mandibular distraction. In addition, there have been reports of such complications as nonunion, damage and stretch injury of the inferior alveolar nerve and tooth germ damage when conventional osteotomy or corticotomy are used for mandibular distraction. The authors utilized the original sagittal split ramus osteotomy for mandibular distraction. Patients and Methods: Five patients (three unilateral hemifacial microsomia, one bilateral hemifacial microsomia, and one mandibular retrusion) were included in this study of distraction osteogenesis using the sagittal split ramus osteotomy. Extraoral distraction devices were applied to the first four patients. An intraoral device with mono-cortical screw fixation was used for the fifth patient. Result: In all five cases, the results of the distraction were satisfactory. Complications (as listed) of conventional osteotomy when used for distraction were avoided. Satisfactory results were achieved and these were also well maintained postoperatively (mean follow up: 36 months). Conclusion: The authors believe that sagittal osteotomy for mandibular distraction osteogenesis makes it possible, to avoid injury to the inferior alveolar nerve during operation and stretching injury during distraction and to prevent tooth germ injury. It is also possible to diversify the osteotomy line for various force vectors to enlarge the bony contact surface area. Therefore, we suggest that sagittal split ramus osteotomy should be used as a preferred modification of osteotomy for mandibular distraction. Copyright 2001 European Association for Cranio-Maxillofacial Surgery. PMID:11403554

Choi, Jin-Young; Hwang, Kyung-Gyun; Baek, Seung-Hak; Lee, Jong-Ho; Kim, Tae-Woo; Kim, Myung-Jin; Chang, Young-II

2001-06-01

162

Massive localised lymphoedema: a rare vascular malformation.  

PubMed

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

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

2013-06-12

163

Multiple hamartomas associated with intracranial malformation.  

PubMed

We examined a newborn infant with multiple hamartomas, including an epidermal nevus syndrome and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage hamartoma, and a lipodermoid of the conjunctiva. This child had a significant brain malformation, diagnosed by sonography and computerized tomography, consisting of a significant enlargement of the left hemisphere not associated with asymmetry of the skull or facial bones. We suggest a careful investigation of the intracranial structures by computerized tomography and/or ultrasonography in case of either extensive linear nevus sebaceous sequence and/or giant pigmented nevocellular nevus. PMID:3725699

Mimouni, F; Han, B K; Barnes, L; Ballard, J L; Dignan, P S; Kiessling, M A; Lucky, A W

1986-06-01

164

Venous malformations of the genitals: a therapeutic dilemma.  

PubMed

Venous malformations may occur anywhere in the body but are rare in the genitourinary tract and external genitalia. The authors report a case of a venous malformation in the glans penis and discuss the controversy over optimal management. PMID:20442077

Kaufman, Daniel; Feber, Kevin M; Palmer, Lane S; Freedman, Alan M

2010-01-01

165

Diffusion tensor imaging of midline posterior fossa malformations  

Microsoft Academic Search

Background  Diffusion tensor imaging and tractography have been used to evaluate a variety of brain malformations. However, these studies have focused mainly on malformations involving the supratentorial compartments. There is a paucity of data on diffusion tensor imaging of posterior fossa malformations.Objective  To describe the color vector maps and modified or abnormal tracts of midline posterior fossa malformations.Materials and Methods  Diffusion tensor imaging

Elysa Widjaja; Susan Blaser; Charles Raybaud

2006-01-01

166

Hypertension as a presentation of bilateral intrarenal arateriovenous malformation.  

PubMed

Congenital arteriovenous malformations are rare lesions of the kidneys. The first case of bilateral renal arteriovenous malformations was described in 1987. A case of extensive bilateral intrarenal arterivenous malformations presented to us as a case of hypertension. Renal angiography confirmed the diagnosis. Magnetic resonance angiography ruled out these malformations in cerebral circulation, and enhanced abdominal CT scan was normal. The blood pressure of the patient was controlled by medical therapy only. PMID:18212459

El-Lozi, M S; Hadad, A F

167

Split-illumination electron holography  

SciTech Connect

We developed a split-illumination electron holography that uses an electron biprism in the illuminating system and two biprisms (applicable to one biprism) in the imaging system, enabling holographic interference micrographs of regions far from the sample edge to be obtained. Using a condenser biprism, we split an electron wave into two coherent electron waves: one wave is to illuminate an observation area far from the sample edge in the sample plane and the other wave to pass through a vacuum space outside the sample. The split-illumination holography has the potential to greatly expand the breadth of applications of electron holography.

Tanigaki, Toshiaki; Aizawa, Shinji; Suzuki, Takahiro; Park, Hyun Soon [Advanced Science Institute, RIKEN, Hirosawa 2-1, Wako, Saitama 351-0198 (Japan); Inada, Yoshikatsu [Institute of Multidisciplinary Research for Advanced Materials, Tohoku University, Katahira 2-1-1, Sendai 980-8577 (Japan); Matsuda, Tsuyoshi [Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012 (Japan); Taniyama, Akira [Corporate Research and Development Laboratories, Sumitomo Metal Industries, Ltd., Amagasaki, Hyogo 660-0891 (Japan); Shindo, Daisuke [Advanced Science Institute, RIKEN, Hirosawa 2-1, Wako, Saitama 351-0198 (Japan); Institute of Multidisciplinary Research for Advanced Materials, Tohoku University, Katahira 2-1-1, Sendai 980-8577 (Japan); Tonomura, Akira [Advanced Science Institute, RIKEN, Hirosawa 2-1, Wako, Saitama 351-0198 (Japan); Okinawa Institute of Science and Technology, Graduate University, Onna-son, Okinawa 904-0495 (Japan); Central Research Laboratory, Hitachi, Ltd., Hatoyama, Saitama 350-0395 (Japan)

2012-07-23

168

Congenital malformations by the parental occupation in finland  

Microsoft Academic Search

The Finnish Register of Congenital Malformations, a case-referent register, was used to analyze the associations between the parental occupation and the children born with malformations. The women working in industrial and construction occupations had more children with central nervous system (CNS) and musculoskeletal malformations than the referent mothers. The women employed in transport and communication occupations had more children with

K. Hemminki; P. Mutanen; K. Luoma; I. Saloniemi

1980-01-01

169

Fraser-Cryptophthalmos syndrome with cardiovascular malformations: a rare association.  

PubMed

Fraser-Cryptophthalmos syndrome is a multiple malformation disorder associated variably with cryptophthalmos (hidden eye), anomalies of the head, nose and ears; syndactyly, renal and genital malformations. In this report, we describe a case of Fraser syndrome with cardiovascular malformations: coarctation of aorta, an association not previously described. PMID:14530551

Hambire, Srinivas D; Bhavsar, Priyanka P; B, Meenakshi; Jayakar, Anagha V

2003-09-01

170

Interventional treatment of pulmonary arteriovenous malformations  

PubMed Central

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

Andersen, Poul Erik; Kjeldsen, Anette Dr?hse

2010-01-01

171

Cardiovascular malformations in experimental congenital diaphragmatic hernia  

Microsoft Academic Search

Background\\/Purpose: Newborns with congenital diaphragmatic hernia (CDH) frequently have associated anomalies that have a major impact on survival rate independent of pulmonary hypoplasia and pulmonary hypertension. Cardiovascular malformations (CVM) represent a major group of lethal extrapulmonary abnormalities that often assume greatest prognostic significance in most CDH studies. Animal models resembling human CDH may aid knowledge of the basic embryology that

Paul D Losty; M. Gwen Connell; Ralf Freese; Stefan Laval; Bruce O Okoye; Audrey Smith; Dietrich Kluth; David A Lloyd

1999-01-01

172

Chiari malformation in female monozygotic twins.  

PubMed

We describe the cases of female monozygotic twins who presented almost synchronously with symptomatic Chiari malformation type I. Both were successfully treated with foramen magnum decompression. We analyse these findings in the context of previously reported cases and discuss the genetic implications. PMID:20649405

Solth, A; Barrett, C; Holliman, D; Mitchell, P

2010-10-01

173

Anatomical progression of the Chiari II malformation  

Microsoft Academic Search

To evaluate whether anatomic change of the relationship of the Chiari II malformation and the cranial base was occurring, 22 children with meningomyelocele had serial MRI scans reviewed. A ratio (B\\/A) was established between the distance from the foramen magnum to the caudalmost portion of herniated cerebellum (B) and the diameter of the foramen magnum (A) and this ratio was

John R. Ruge; Jeff Masciopinto; Bruce B. Storrs; David G. McLone

1992-01-01

174

Angular craniometry in craniocervical junction malformation.  

PubMed

The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles. PMID:23640096

Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi

2013-05-03

175

Familial Dandy-Walker malformation and leukodystrophy  

Microsoft Academic Search

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.

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

1997-01-01

176

Unilateral regional odontodysplasia with ipsilateral mandibular malformation.  

PubMed

Regional odontodysplasia is a rare developmental anomaly with an unknown cause. This disorder involves both the ectodermal and mesodermal dental layers. The affected teeth generally cannot be rehabilitated for functional use; therefore, the treatment of choice is extraction with prosthetic replacement. A unique case of unilateral regional odontodysplasia with ipsilateral mandibular malformation is reported. PMID:2356083

Raez, A G

1990-06-01

177

Obstetric complications and congenital malformation in schizophrenia  

Microsoft Academic Search

Recent years have witnessed increasingly intense research activity concerning early life somatic trauma and dysmorphogenesis which are associated with the later development of schizophrenia. The two somatic factors that have received the most extensive scientific attention as antecedents of schizophrenia are obstetric complications (OCs) and the congenital malformations termed `minor physical anomalies' (MPAs). Head circumference (HC) at birth has also

Thomas F McNeil; Elizabeth Cantor-Graae; Baher Ismail

2000-01-01

178

Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations  

Microsoft Academic Search

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among\\u000a Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North\\u000a of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded\\u000a in a pre-designed questionnaire for analysis;

Mohammad Jafar Golalipour; Elham Mobasheri; Kaniz-Reza Hoseinpour; Abbas Ali Keshtkar

2007-01-01

179

Split Inteins: Nature's Protein Ligases  

PubMed Central

Split inteins carry out a naturally occurring process known as protein trans-splicing, where two protein fragments bind to form a catalytically competent enzyme, then catalyze their own excision and the ligation of their flanking sequences. In the past thirteen years since their discovery, chemists and biologists have utilized split inteins in exogenous contexts for a number of biotechnological applications centered around the formation of native peptide bonds. While many protein trans-splicing technologies have emerged and flourished in recent years, several factors still limit their wide-spread practical use. Here, we discuss the development, applications, and limitations of split intein-based technologies and propose that further advancement in this field will require a more fundamental understanding of split intein structure and function.

Muir, Tom W.

2013-01-01

180

Neutrino masses in split supersymmetry  

SciTech Connect

We investigate the possibility of generating neutrino masses in the context of split supersymmetric scenarios where all sfermions are very heavy. All relevant contributions coming from the R-parity violating terms to the neutrino mass matrix up to one-loop level are computed showing the importance of the Higgs bosons one-loop corrections. We conclude that it is not possible to generate all neutrino masses and mixings in split SUSY with bilinear R-parity violating interactions. In the case of partial split SUSY, the one-loop Higgs bosons contributions are enough to generate the neutrino masses and mixings in agreement with the experiment. In the context of minimal SUSY SU(5), we find new contributions that help us to generate neutrino masses in the case of split SUSY.

Aurelio Diaz, Marco [Departamento de Fisica, Universidad Catolica de Chile, Avenida Vicuna Mackenna 4860, Santiago (Chile); Fileviez Perez, Pavel [Department of Physics, University of Wisconsin-Madison, 1150 University Avenue, Madison, Wisconsin 53706 (United States); CFTP, Instituto Superior Tecnico, Avenue Rovisco Pais 1, 1049-001, Lisbon (Portugal); Mora, Clemencia [Departement de Physique Nucleaire et Corpusculaire, Universite de Geneve, 24 Quai Ernest-Ansermet, 1211 Geneve 4 (Switzerland)

2009-01-01

181

Pediatric Spinal Cord Injury 101  

MedlinePLUS Videos and Cool Tools

Experts \\ Pediatric Spinal Cord Injury 101 Topics Adult Injuries Spinal Cord Injury 101 The Basics of SCI Rehabilitation Preventing Pressure Sores Transition from Hospital to Home Spasticity, Physical Therapy- ...

182

Extensive Intramuscular Venous Malformation in the Lower Extremity  

PubMed Central

Typical venous malformations are easily diagnosed by skin color changes, focal edema or pain. Venous malformation in the skeletal muscles, however, has the potential to be missed because their involved sites are invisible and the disease is rare. In addition, the symptoms of intramuscular venous malformation overlaps with myofascial pain syndrome or muscle strain. Most venous malformation cases have reported a focal lesion involved in one or adjacent muscles. In contrast, we have experienced a case of intramuscular venous malformation that involved a large number of muscles in a lower extremity extensively.

Chul, Jung Ho; Park, Byung Kyu; Park, Myung Kyu

2012-01-01

183

Autologous umbilical cord blood transfusion  

Microsoft Academic Search

The purpose of this study was to examine some aspects of umbilical cord blood collection for autologous transfusion in premature infants. All 120 microbacterial cultures (aerobic and anaerobic) of cord blood samples as well as 30 cultures of mycoplasma were treated. Cord prothrombin fragment (F 1 + 2) concentrations were quantified at one and 10 minutes after clamping of the

A. Ballin; E. Arbel; G. Kenet; M. Berar; D. Kohelet; A. Tanay; H. Zakut; D. Meytes

1995-01-01

184

Spinal cord concussion.  

PubMed

A reliable experimental model using decerebrate frogs has been developed by which a measured cutaneous stimulus to the right forelimb produces a single electrical response from the left sciatic nerve. Using this model, the minimal concussing force necessary to abolish the propagation of the nerve impulse down the spinal cord was established by trial and error. The mean recovery time was 31.2 seconds, with a standard deviation of 1.32 seconds. Recovery of function of the spinal cord, as measured this method, was complete following single and multiple concussions. PMID:6977881

Parkinson, D; Del Bigio, M; Jell, R M

1981-11-01

185

Engineering of biologically active living heart valve leaflets using human umbilical cord-derived progenitor cells.  

PubMed

This study demonstrates the engineering of biologically active heart valve leaflets using prenatally available human umbilical cord-derived progenitor cells as the only cell source. Wharton's Jelly-derived cells and umbilical cord blood-derived endothelial progenitor cells were subsequently seeded on biodegradable scaffolds and cultured in a biomimetic system under biochemical or mechanical stimulation or both. Depending on the stimulation, leaflets showed mature layered tissue formation with functional endothelia and extracellular matrix production comparable with that of native tissues. This demonstrates the feasibility of heart valve leaflet fabrication from prenatal umbilical cord-derived progenitor cells as a further step in overcoming the lack of living autologous replacements with growth and regeneration potential for the repair of congenital malformation. PMID:17518636

Schmidt, Dörthe; Mol, Anita; Odermatt, Bernhard; Neuenschwander, Stefan; Breymann, Christian; Gössi, Matthias; Genoni, Michele; Zund, Gregor; Hoerstrup, Simon P

2006-11-01

186

Radical resection of a venous malformation in middle finger and immediate reconstruction using medial plantar artery perforator flap: a case report.  

PubMed

Reconstruction of complex defects resulting from radical resection of venous malformation occurring in other digits except the thumb is challenging because a thin and durable flap is required to achieve optimal reconstruction without functional impairment. Here, we describe an alternative reconstruction technique in a young patient. A 15-year-old female patient with venous malformation of the left 3rd finger was treated by radical excision of the tumor including involved skin, distal phalanx, and nail bed followed by reconstruction with free medial plantar artery perforator flap and split thickness nail bed graft from the great toe. Twenty-nine months after surgery, the reconstructed finger showed a acceptable aesthetic result without tumor recurrence and excellent restoration of motor function. This method can be considered as an useful alternative option for management of the digital venous malformation in other digits except the thumb. Indications and technical aspects of this method are discussed in this report. PMID:22389901

Gu, Ja Hea; Jeong, Seong-Ho

2012-02-01

187

Compressed microtubules: Splitting or buckling  

NASA Astrophysics Data System (ADS)

Microtubule (MT) is the mechanically strongest cytoskeletal element in eukaryotic cells and plays a key role in maintaining cell's geometrical shape by bearing compressive forces. MTs are highly dynamic, and ``dynamic instability'' is referred to the switch between polymerization and depolymerization phases (the latter is characterized by splitting of protofilaments at the plus end). A micromechanics model is proposed here to study whether an axially compressed microtubule, protected by a ``cap'' consisted of a few layers of strongly bonded GTP dimers at the plus end, can split prior to overall buckling. Our basic conclusion is that compression-driven splitting of a capped microtubule can happen prior to overall buckling when the microtubule is very short (typically shorter than few hundreds of nanometers). For example, compression-driven splitting from middle of a capped microtubule can happen prior to buckling when the length of microtubule is shorter than a few hundreds of nanometers. In addition, for capped microtubules shorter than 125-180 nm (depending on specific values of axial Young's modulus and adhesion energy between protofilaments), mechanical compression will cause splitting of the microtubule at its plus end prior to overall buckling. On the other hand, however, for microtubules of length longer than 0.3-0.75 micron (depending on specific values of axial Young's modulus and adhesion energy between protofilaments), the present model shows that a cap composed of even one single layer of GTP dimers is sufficient to prevent compression-driven splitting prior to buckling, in agreement with the known observations that dynamic instability or splitting of moderately long microtubules could happen only when the cap is completely lost at the plus end.

Jin, M. Z.; Ru, C. Q.

2012-03-01

188

COMPARING HEEGAARD SPLITTINGS |THE BOUNDED CASE  

Microsoft Academic Search

In a recent paper we used Cerf theory to compare strongly irre- ducible Heegaard splittings of the same closed irreducible orientable 3-manifold. This captures all irreducible splittings of non-Haken 3-manifolds. One appli- cation is a solution to the stabilization problem for such splittings: If p q are the genera of two splittings, then there is a common stabilization of genus

HYAM RUBINSTEIN; MARTIN SCHARLEMANN

1998-01-01

189

Splitting: The Development of a Measure.  

ERIC Educational Resources Information Center

|Described the development of a scale that measures splitting as a psychological structure. The construct validity of the splitting scale is suggested by the positive relationship between splitting scores and a diagnostic measure of the narcissistic personality disorder, as well as a negative relationship between splitting scores and levels of…

Gerson, Mary-Joan

1984-01-01

190

Forearm Fractures in Children: Split Opinions about Splitting the Cast.  

PubMed

Background Fractures of the forearm are the most common fractures in children. Various methods of cast immobilization have been recommended. Currently, there is still controversy regarding the optimal method of treatment, especially regarding the need for cast splitting.Methods We conducted a single-center randomized and controlled trial between June 2008 and September 2009. Children younger than 16 years presenting to the emergency department with a closed fracture of the forearm needing reduction were eligible for random assignment to immobilization in a closed or split circumferential semirigid cast. The primary outcome was the incidence of cast-related soft-tissue problems such as compartment syndrome, neurovascular compromise, saw burns, or skin breakdown. The secondary outcome was fracture stability.Results During this period, 100 patients were randomly assigned to one of the two procedures and analyzed. Follow-up was completed in 99 patients. No compartment syndrome was observed in either group. Moderate skin breakdown (< 2 cm2) occurred in two patients, one in the closed cast and one in the split cast group. Secondary splitting was necessary in one patient because of a reversible lymphedema. Significant secondary displacement of the fracture was slightly more common in the split group (5 of 50 patients [10%] vs. 4 of 49 patients [8%] in the closed cast group) without reaching statistical significance.Conclusions No significant difference in the incidence of cast-related problems was observed between the groups. Fracture stability was comparable in both groups. We suggest that closed circumferential semirigid casts are a safe and effective immobilization technique for fractures of the forearm in children and splitting can be omitted. PMID:23494465

Schulte, Daniel; Habernig, Sandra; Zuzak, Tycho; Staubli, Georg; Altermatt, Stefan; Horst, Maya; Garcia, Daniel

2013-03-14

191

Vocal Cord Paralysis  

MedlinePLUS

... http://www.entnet.org/HealthInformation/vocalChordParalysis.cfm. Accessed April 17, 2012. Rubin RT, et al. Vocal fold paresis and paralysis. Otolaryngologic Clinics of North America. 2007;40:1109. Vocal cord paralysis. American Speech-Language-Hearing Association. http://www.asha.org/ ...

192

Autologous umbilical cord blood transfusion.  

PubMed Central

The purpose of this study was to examine some aspects of umbilical cord blood collection for autologous transfusion in premature infants. All 120 microbacterial cultures (aerobic and anaerobic) of cord blood samples as well as 30 cultures of mycoplasma were treated. Cord prothrombin fragment (F 1 + 2) concentrations were quantified at one and 10 minutes after clamping of the cord. F 1 + 2 concentrations assessed on 25 newborn infants were similar and no linear association with time of clamping could be drawn. This means that cord blood thrombosis is not activated for at least 10 minutes following clamping of the cord. As far as is known, the first newborn infant to benefit from this method of transfusion is reported here. The premature infant received two portions of autologous blood (on days 5 and 7). No untoward effects were noted. Blood, collected from the umbilical cord, is a safe source for autotransfusion, provided that bacteriological testing has been carried out.

Ballin, A.; Arbel, E.; Kenet, G.; Berar, M.; Kohelet, D.; Tanay, A.; Zakut, H.; Meytes, D.

1995-01-01

193

GI-Associated Hemangiomas and Vascular Malformations  

PubMed Central

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

Yoo, Stephen

2011-01-01

194

Diphallus with anorectal malformation-case report.  

PubMed

Diphallus is a very rare condition. We report a case of a newborn with absent anal opening and duplication of external genitalia. Examination of the external genitalia showed two well formed penises with fully descended testis within each of the separate hemiscrotums along with soft tissue mass resembling accessory buttock behind the hemiscrotum. Staged reconstruction of duplicated genitalia and anorectal malformation was done. We achieved excellent cosmetic and functional external genitalia. PMID:20223333

Mukunda, Ramachandra; Bendre, Pradnya S; Redkar, Rajeev G; Hambarde, Sandeep

2010-03-01

195

Cerebral Anomalies and Chiari Type 1 Malformation  

Microsoft Academic Search

Objective: To analyze the association of diverse cerebral anomalies in a series of pediatric patients with cerebellar tonsillar ectopia. Methods: We reviewed the medical records of 60 children diagnosed with Chiari type 1 malformation (CM1), of these, 20 patients (11 boys and 9 girls; mean age 7.2 years, range 2–16 years) had an associated cerebral anomaly. Symptoms of tonsillar ectopia

Marcelo Galarza; Juan F. Martínez-Lage; Steven Ham; Sandeep Sood

2010-01-01

196

The spectrum of anorectal malformations in Africa  

Microsoft Academic Search

Anorectal malformations (ARM) remain a significant birth defect with geographic variation in incidence, individual phenotypes\\u000a and regional geographic subtypes. Although early studies indicated a low incidence in Black patients, there is a great paucity\\u000a of knowledge as to the types, frequency and incidence of ARMs encountered in the African continent and their associated anomalies.\\u000a Current evidence suggests a significant clinical

S. W. Moore; A. Alexander; D. Sidler; J. Alves; G. P. Hadley; A. Numanoglu; B. Banieghbal; M. Chitnis; D. Birabwa-Male; B. Mbuwayesango; A. Hesse; K. Lakhoo

2008-01-01

197

Imaging of arteriovenous malformation following stereotactic radiosurgery  

Microsoft Academic Search

Background. Stereotactic radiosurgery allows for a high dose of focused radiation to be delivered to a small lesion such as an arteriovenous\\u000a malformation (AVM). The clinical change and brain response over time to this localized high-dose radiation can be quite striking.\\u000a Objective. The objective of this study to describe and analyse the imaging changes following radiotherapy for AVMs. Materials and

Jeffrey V. Tranchida; Christopher J. Mehall; Thomas L. Slovis; Miguel Lis-Planells

1997-01-01

198

Bronchopulmonary foregut malformations: embryology, radiology and quandary  

Microsoft Academic Search

.  Bronchopulmonary foregut malformations (BPFM) are a heterogeneous group of pulmonary developmental anomalies that present\\u000a at varying ages and with overlapping symptoms, signs and radiology. This article discusses the embryology of these lesions\\u000a with reference to possible common origins and the link between aetiology and radiological appearance. The radiology of each\\u000a lesion, both antenatally and postnatally, is described and illustrated. A

N. A. Barnes; D. W. Pilling

2003-01-01

199

Percutaneous Treatment of Peripheral Vascular Malformations  

Microsoft Academic Search

Vascular malformations arise from errors in the morphological processes that shape the embryonic\\u000avascular system during fetal development. These developmental errors result in abnormal clusters of\\u000ablood vessels. Although these lesions are present at birth, they might not become visible until weeks or\\u000aeven years after birth. Typically, the lesions grow in proportion to the growth of the child. A

Linden van der E

2011-01-01

200

CSF flow study in Chiari I malformation  

Microsoft Academic Search

ObjectiveThe aim of this prospective study was to define the role of cardiac gated phase-contrast ciné magnetic resonance imaging in deciding the therapeutic strategy in patients with Chiari I malformation.Materials and methodsTwenty-one patients operated on between February 2000 and July 2002 were enrolled in the study. All patients underwent a detailed preoperative neurological examination. MRI of the craniovertebral junction and

M. Panigrahi; B. Praveen Reddy; A. K. Reddy; J. J. M. Reddy

2004-01-01

201

The surgical treatment of Chiari I malformation  

Microsoft Academic Search

Summary A retrospective study was undertaken on 133 patients with a Chiari I malformation treated within the last 16 years at the Departments of Neurosurgery at the Nordstadt Hospital Hannover, Germany, and the University of California, Los Angeles, U.S.A. Ninety-seven patients presented with symptoms related to accompanying syringomyelia and 4 with associated syringobulbia. They underwent 149 surgical procedures and were

J. Klekamp; U. Batzdorf; M. Samii; H. W. Bothe

1996-01-01

202

The challenge of large vascular malformations  

Microsoft Academic Search

Vascular malformations are of the low- or high-flow variety, the latter variety also having shunting characteristics. In this\\u000a manuscript, significant and challenging conditions will be presented. The high-flow lesions can cause excessive growth in\\u000a the local area, and severe bleeding is always a possibility, either spontaneous or during surgery. Clinical examination, angiography,\\u000a and Doppler studies confirm the diagnosis. In treatment

Ian T. Jackson

2009-01-01

203

Rhombencephalosynapsis - isolated anomaly or complex malformation?  

PubMed Central

Summary Background: Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI). Material/Methods: Material consists of involves one fetus examined at the gestational age of 27 and 33 weeks and 7 children (5 girls and 2 boys) aged 8 months – 16 years. All of them underwent brain MRI with the use of 1.5T scanners. Results: In 1 case RES was an isolated anomaly, in 1 case it was accompanied by hydrocephalus only, in the remaining 6 cases RES was an element of a complex malformation. The additional anomalies were as follows: callosal hypoplasia in 3 children, abnormalities of gyration in 2, brainstem hypoplasia in 2, isolated fourth ventricle in 1, abnormal white matter signal intensity in 4 (in 2 cases in supratentorial compartment, in 1 in the cerebellum and in 1 in the pons), abnormally dilated extraaxial fluid collections in 2, syringohydromyelia in 2. In 5 cases RES was total, in 3 – partial. Conclusions: Rhombencephalosynapsis has a very characteristic appearance on magnetic resonance imaging which allows diagnosis of this malformation at any age, including prenatal period.

Bekiesinska-Figatowska, Monika; Jurkiewicz, Elzbieta; Szkudlinska-Pawlak, Sylwia; Malczyk, Katarzyna; Nowak, Katarzyna

2012-01-01

204

Malformations of cortical development and epilepsy  

PubMed Central

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

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

205

Level splitting at macroscopic scale.  

PubMed

A walker is a classical self-propelled wave particle association moving on a fluid interface. Two walkers can interact via their waves and form orbiting bound states with quantized diameters. Here we probe the behavior of these bound states when setting the underlying bath in rotation. We show that the bound states are driven by the wave interaction between the walkers and we observe a level splitting at macroscopic scale induced by the rotation. Using the analogy between Coriolis and Lorentz forces, we show that this effect is the classical equivalent to Zeeman splitting of atomic energy levels. PMID:23004988

Eddi, A; Moukhtar, J; Perrard, S; Fort, E; Couder, Y

2012-06-26

206

Split ring containment attachment device  

DOEpatents

A containment attachment device 10 for operatively connecting a glovebag 200 to plastic sheeting 100 covering hazardous material. The device 10 includes an inner split ring member 20 connected on one end 22 to a middle ring member 30 wherein the free end 21 of the split ring member 20 is inserted through a slit 101 in the plastic sheeting 100 to captively engage a generally circular portion of the plastic sheeting 100. A collar potion 41 having an outer ring portion 42 is provided with fastening means 51 for securing the device 10 together wherein the glovebag 200 is operatively connected to the collar portion 41.

Sammel, Alfred G. (Pittsburgh, PA)

1996-01-01

207

Biphasic water splitting by osmocene  

PubMed Central

The photochemical reactivity of osmocene in a biphasic water-organic solvent system has been investigated to probe its water splitting properties. The photoreduction of aqueous protons to hydrogen under anaerobic conditions induced by osmocene dissolved in 1,2-dichloroethane and the subsequent water splitting by the osmocenium metal-metal dimer formed during H2 production were studied by electrochemical methods, UV-visible spectrometry, gas chromatography, and nuclear magnetic resonance spectroscopy. Density functional theory computations were used to validate the reaction pathways.

Ge, Peiyu; Todorova, Tanya K.; Patir, Imren Hatay; Olaya, Astrid J.; Vrubel, Heron; Mendez, Manuel; Hu, Xile; Corminboeuf, Clemence; Girault, Hubert H.

2012-01-01

208

Biphasic water splitting by osmocene.  

PubMed

The photochemical reactivity of osmocene in a biphasic water-organic solvent system has been investigated to probe its water splitting properties. The photoreduction of aqueous protons to hydrogen under anaerobic conditions induced by osmocene dissolved in 1,2-dichloroethane and the subsequent water splitting by the osmocenium metal-metal dimer formed during H(2) production were studied by electrochemical methods, UV-visible spectrometry, gas chromatography, and nuclear magnetic resonance spectroscopy. Density functional theory computations were used to validate the reaction pathways. PMID:22665787

Ge, Peiyu; Todorova, Tanya K; Patir, Imren Hatay; Olaya, Astrid J; Vrubel, Heron; Mendez, Manuel; Hu, Xile; Corminboeuf, Clémence; Girault, Hubert H

2012-06-04

209

Milestones in umbilical cord blood transplantation  

Microsoft Academic Search

Since the first human cord blood transplant, performed in 1988, cord blood banks have been established worldwide for collection and cryopreservation of cord blood for allogeneic hematopoietic stem cell transplant. Umbilical cord blood (UCB) has now become one of the most commonly used source of hematopoietic stem cells for allogeneic transplantation. Today a global network of cord blood banks and

E. Gluckman

2011-01-01

210

Malformations in neotropical viperids: qualitative and quantitative analysis.  

PubMed

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

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

2013-07-23

211

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

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

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

2008-01-01

212

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

PubMed Central

A 27-year-old woman presented with bilateral weakness of her all extremities for 5 years. She had a spastic gait and was unable to ambulate without assistance. Neurologic examination revealed increased deep tendon reflexes and positive pathologic reflexes. Radiographs showed occipitalization of the atlas, C2–C3 congenital fusion and fixed atlantoaxial dislocation with an atlanto-dental interval of 10 mm. MRI demonstrated cervicomedullary junction (CMJ) compression from the odontoid, a Chiari type I malformation, and syringomyelia extending from the foramen magnum to C5. The patient underwent transoral atlantoaxial release followed by posterior internal fixation from the occiput to the axis, which resulted in a significant improvement in motor function in all extremities. Post-operative images showed anatomical reduction of the atlantoaxial joint. However, an MRI performed 8 days following surgery showed a new retro-odontoid pannus had developed that was compressing the spinal cord at CMJ. A follow-up CT scan performed at 6 months post-operatively demonstrated a solid bony fusion between the occiput and C2, while an MRI at that time showed complete resolution of the retro-odontoid soft tissue mass with correction of the Chiari I malformation, and resolution of the syringomyelia. Final follow-up at 2-years revealed an excellent clinical outcome.

Wang, Shenglin; Yan, Ming; Zhou, Haitao; Jiang, Liang

2009-01-01

213

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

PubMed

A 27-year-old woman presented with bilateral weakness of her all extremities for 5 years. She had a spastic gait and was unable to ambulate without assistance. Neurologic examination revealed increased deep tendon reflexes and positive pathologic reflexes. Radiographs showed occipitalization of the atlas, C2-C3 congenital fusion and fixed atlantoaxial dislocation with an atlanto-dental interval of 10 mm. MRI demonstrated cervicomedullary junction (CMJ) compression from the odontoid, a Chiari type I malformation, and syringomyelia extending from the foramen magnum to C5. The patient underwent transoral atlantoaxial release followed by posterior internal fixation from the occiput to the axis, which resulted in a significant improvement in motor function in all extremities. Post-operative images showed anatomical reduction of the atlantoaxial joint. However, an MRI performed 8 days following surgery showed a new retro-odontoid pannus had developed that was compressing the spinal cord at CMJ. A follow-up CT scan performed at 6 months post-operatively demonstrated a solid bony fusion between the occiput and C2, while an MRI at that time showed complete resolution of the retro-odontoid soft tissue mass with correction of the Chiari I malformation, and resolution of the syringomyelia. Final follow-up at 2-years revealed an excellent clinical outcome. PMID:19941013

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

2009-11-26

214

Dualband Split Dielectric Resonator Antenna  

Microsoft Academic Search

A dualband dielectric resonator antenna (DRA) is designed by splitting a rectilinear dielectric resonator (DR) and carving notches off the DR. It is observed that notches engraved at different positions affect different modes. Removal of dielectric material from where the electric field is strong incurs a significant increase in resonant frequency. The abrupt change of normal electric field across the

Tze-Hsuan Chang; Jean-Fu Kiang

2007-01-01

215

Water splitting: Catalyst or spectator?  

NASA Astrophysics Data System (ADS)

The deposition of cobalt-phosphate onto photocatalytic haematite improves its ability to split water and thus create clean hydrogen fuel. The source of this improvement is, however, not yet understood, and now two separate studies suggest different roles for the deposited cobalt-phosphate.

Gamelin, Daniel R.

2012-12-01

216

Split-Phase Motor - Rewinding.  

National Technical Information Service (NTIS)

This program shows how to test a split-phase motor for electrical and mechanical faults, dismantle and strip the stator, rewind the stator, form and install skein windings, and insulate. It explains how to lace, dip, and bake the stator, and how to assemb...

1994-01-01

217

Centerville Beach Split Pipe Repair.  

National Technical Information Service (NTIS)

A storm on the coast of northern California 1-10 March 1977 removed a significant amount of beach sand that was covering and protecting two 21 Q cables at the U.S. Naval Facility, Centerville Beach. As a result it was discovered that several feet of split...

1977-01-01

218

Hyperfine splitting in noncommutative spaces  

Microsoft Academic Search

We study the hyperfine splitting in the framework of the noncommutative quantum mechanics (NCQM) developed in the literature. The results show deviations from the usual quantum mechanics. We show that the energy difference between two excited and the ground states in a noncommutative space (NCS) is bigger than the one in the commutative case, so the radiation wavelength in NCSs

S. A. Alavi

2008-01-01

219

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.  

PubMed Central

Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring.

Ozen, R S; Baysal, B E; Devlin, B; Farr, J E; Gorry, M; Ehrlich, G D; Richard, C W

1999-01-01

220

Congenital malformations at birth — A prospective study from south India  

Microsoft Academic Search

Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries.\\u000a The overall incidence of malformations was 3.7% and it was 3.2% among live births and 15.7% among still births. Three hundred\\u000a and ninety seven birth defects were observed among 308 live births and 72 among 45 still births. The incidence of malformation\\u000a was significantly higher

B. Vishnu Bhat; Lokesh Babu

1998-01-01

221

Assessment of dysphagia in infants with facial malformations  

Microsoft Academic Search

In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever\\u000a the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations\\u000a in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns\\u000a other than isolated Pierre Robin sequence had:

Jean-Jacques Baudon; Francis Renault; Jean-Michel Goutet; Valérie Biran-Mucignat; Georges Morgant; Erea-Noel Garabedian; Marie-Paule Vazquez

2009-01-01

222

Hemangiomas and Vascular Malformations: Current Theory and Management  

PubMed Central

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

Richter, Gresham T.; Friedman, Adva B.

2012-01-01

223

[Paraganglioma of spermatic cord].  

PubMed

Paragangliomas can exist anywhere in the distribution of neural crest derived cells. In the spermatic cord, they are exceedingly rare. We report a case of histologically discovery, occurring in a man of 50 years who had a para-testicular mass, painless, firm without other signs associated. In view of this observation and a review of the literature, we propose to establish the epidemiological profile and study the prognostic and the clinicopathologic features of this tumor. PMID:23721710

Majdoub, W; Nfoussi, H; Rhouma, S B; Chelly, I; Zehani, A; Haouet, S; Kchir, N

2013-04-25

224

Spinal Cord Neurosarcoidosis.  

PubMed

BACKGROUND:: Spinal cord neurosarcoidosis (SN) is problematic to diagnose because it mimics other inflammatory neurologic diseases. The authors report the clinical features of 29 SN cases. METHODS:: They retrospectively reviewed the medical records of 29 histologically proven sarcoidosis patients with spinal cord involvement seen at 3 university medical centers. They collected clinical data including laboratory and radiological findings. Clinical outcomes were assessed retrospectively using the modified Rankin scale. RESULTS:: The cohort included high number of African Americans (16/29, 55%). The lung and intrathoracic lymph nodes were the most common confirmatory biopsy sites (18/29, 62%), whereas the spinal cord was a relatively uncommon one (4/29, 14%). The most common presenting symptoms were lower extremity weakness and paresthesias. Thoracic segment was most frequently involved (21/27, 78%). Lesions were mostly intramedullary (22/27, 81%), although nearly half involved the leptomeninges (13/27, 48%). The average size of a lesion spanned 3.9 spine segments (range, 1-9); 17 of 22 (77%) intramedullary patients had ?3 spine segments involved. Angiotensin-converting enzyme levels in cerebrospinal fluid were elevated in only 2 of 11 (18%) patients. All patients received glucocorticosteroids. Additional immune-modulating agents were used in 24 of 29 (83%) patients. Scores on the modified Rankin scale at the final follow-up visit were improved. CONCLUSIONS:: Most SN cases were diagnosed indirectly based on extraneural tissue biopsy. Extended spinal cord lesion (?3 spine segments) may be useful to distinguish SN from multiple sclerosis. Cerebrospinal fluid analysis was of limited value. Most patients experienced clinical improvement with immunosuppressive treatment, but many required combination therapy. PMID:23364469

Sohn, Mimi; Culver, Daniel A; Judson, Marc A; Scott, Thomas F; Tavee, Jinny; Nozaki, Kenkichi

2013-01-29

225

Banking of Cord Blood  

Microsoft Academic Search

\\u000a Hematopoietic stem cell transplantation (HSCT) can be curative in a large variety of selected malignant and non malignant\\u000a diseases. Umbilical cord blood transplantation (UCBT) has extended the availability of allogeneic hematopoietic stem cell\\u000a transplantation (HSCT) to patients who would not otherwise be eligible for this curative approach. The first successful UCBT\\u000a from an HLA-identical sibling in a child with severe

Eliane Gluckman

226

Temporal lobe arteriovenous malformations: anatomical subtypes, surgical strategy, and outcomes.  

PubMed

Object Descriptions of temporal lobe arteriovenous malformations (AVMs) are inconsistent. To standardize reporting, the authors blended existing descriptions in the literature into an intuitive classification with 5 anatomical subtypes: lateral, medial, basal, sylvian, and ventricular. The authors' surgical experience with temporal lobe AVMs was reviewed according to these subtypes. Methods Eighty-eight patients with temporal lobe AVMs were treated surgically. Results Lateral temporal lobe AVMs were the most common (58 AVMs, 66%). Thirteen AVMs (15%) were medial, 9 (10%) were basal, and 5 (6%) were sylvian. Ventricular AVMs were least common (3 AVMs, 3%). A temporal craniotomy based over the ear was used in 64%. Complete AVM resection was achieved in 82 patients (93%). Four patients (5%) died in the perioperative period (6 in all were lost to follow-up); 71 (87%) of the remaining 82 patients had good outcomes (modified Rankin Scale scores 0-2); and 68 (83%) were unchanged or improved after surgery. Conclusions Categorization of temporal AVMs into subtypes can assist with surgical planning and also standardize reporting. Lateral AVMs are the easiest to expose surgically, with circumferential access to feeding arteries and draining veins at the AVM margins. Basal AVMs require a subtemporal approach, often with some transcortical dissection through the inferior temporal gyrus. Medial AVMs are exposed tangentially with an orbitozygomatic craniotomy and transsylvian dissection of anterior choroidal artery and posterior cerebral artery feeders in the medial cisterns. Medial AVMs posterior to the cerebral peduncle require transcortical approaches through the temporo-occipital gyrus. Sylvian AVMs require a wide sylvian fissure split and differentiation of normal arteries, terminal feeding arteries, and transit arteries. Ventricular AVMs require a transcortical approach through the inferior temporal gyrus that avoids the Meyer loop. Surgical results with temporal lobe AVMs are generally good, and classifying them does not offer any prediction of surgical risk. PMID:23848823

Gabarrós Canals, Andreu; Rodríguez-Hernández, Ana; Young, William L; Lawton, Michael T

2013-07-12

227

The split algebras and noncompact Hopf maps  

SciTech Connect

We develop a noncompact version of the Hopf maps based on the split algebras. The split algebras consist of three species: split-complex numbers, split quaternions, and split octonions. They correspond to three noncompact Hopf maps that represent topological maps between hyperboloids in different dimensions with hyperboloid bundle. We realize such noncompact Hopf maps in two ways: one is to utilize the split-imaginary unit, and the other is to utilize the ordinary imaginary unit. Topological structures of the hyperboloid bundles are explored, and the canonical connections are naturally regarded as noncompact gauge field of monopoles.

Hasebe, Kazuki [Department of General Education, Kagawa National College of Technology, Takuma-cho, Mitoyo city, Kagawa 769-1192 (Japan)

2010-05-15

228

Associated malformations among infants with radial ray deficiency.  

PubMed

Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted. PMID:24032294

Stoll, C; Dott, B; Alembik, Y; Roth, M-P

2013-01-01

229

Facial nerve mapping and monitoring in lymphatic malformation surgery  

Microsoft Academic Search

ObjectiveEstablish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations.

Jospeh Chiara; Greg Kinney; Jefferson Slimp; Gi Soo Lee; Sepehr Oliaei; Jonathan A. Perkins

2009-01-01

230

Sexuality and spinal cord injury.  

PubMed

Spinal cord injury may have a profound effect on the patient's sexuality. In order to maximize the patient's potential, concern and support from health care professionals is needed. This article reviews normal sexual function and changes occurring following spinal cord injury. The PLISSIT model is described and is used to describe nursing interventions designed to deal with the sexual concerns of spinal cord-injured patients. PMID:2973501

Goddard, L R

1988-08-01

231

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

PubMed Central

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

Williams, Helen

2008-01-01

232

Endovascular management of spinal arteriovenous malformations.  

PubMed

Spinal arteriovenous malformations (sAVMs) are rare vascular lesions whose natural history remains incompletely defined. Several classification schemes for sAVMs have evolved based on an improved understanding of the anatomic characteristics as well as pathophysiologic behavior of these arteriovenous shunts. Advances in endovascular technology have inspired the adoption of interventional techniques both as stand-alone treatment and as part of a multi-modality management paradigm for sAVMs. Further refinements in liquid embolic agents as well as improved microcatheter navigability will contribute to an ever-expanding role for endovascular intervention in the management of these lesions. PMID:22935350

Ducruet, Andrew F; Crowley, R Webster; McDougall, Cameron G; Albuquerque, Felipe C

2012-08-30

233

Congenital malformation associated with intrauterine contraceptive device.  

PubMed Central

Two infants with fibular aplasia and related limb-reduction defects were born to mothers who were using copper-containing intrauterine contraceptive devices. The possibility of a casual association is consistent with the known hazards of intrauterine devices and cannot be excluded on the available experimental evidence. More information is urgently needed, and searches, including radiography of placenta and pelvis, should be made for such devices in mothers who have used them in the past and who give birth to malformed infants. Images FIG 1 FIG 2

Barrie, H

1976-01-01

234

Intracranial arteriovenous malformation presenting with papilloedema.  

PubMed

Intracranial arteriovenous malformations (AVM) typically present clinically with haemorrhage, seizures or focal neurological deficit. AVM do not usually have a substantial mass effect or cause raised intracranial pressure. Rarely shunting of arterial blood into the venous system can cause raised venous pressure and consequently raised CSF pressure. The case described here is of a 37 year old man with an AVM who presented with headache and papilloedema secondary to raised CSF pressure. Following partial embolisation, to reduce fistulous flow, and stereotactic radiosurgery (SRS), to reduce the size of the AVM, both the headache and papilloedema resolved. PMID:24108890

Hayton, Tom; Gan, Peter; Sadalage, Girija; Burdon, Michael

2013-11-01

235

The pediatric Chiari I malformation: a review  

Microsoft Academic Search

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

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

2007-01-01

236

[Pelvic arteriovenous malformation : a case report].  

PubMed

A 70-year-old male presented with intermittent macroscopic hematuria. There was no history of previous trauma or pelvic operation. At first, we were unable to clarify the origin of the hematuria, but 3D computed tomography revealed an arteriovenous malformation (AVM) consisting of multiple feeding vessels arising from the bilateral, especially right, internal iliac artery. Treatment with transcatheter arterial embolization (TAE) with a combination of lipiodol and N-butyl-2-cyanoacrylate twice was effective. He needs to be followed up carefully for recurrence of AVM. PMID:23945325

Suzuki, Kotaro; Kusuda, Yuji; Yamada, Yuji; Nose, Ryuichiro; Matsui, Takashi; Sanda, Yuki; Mori, Takeki; Sugimoto, Koji

2013-07-01

237

Microresonators: Particle sizing by mode splitting  

NASA Astrophysics Data System (ADS)

It has long been known that the optical resonances of ultrahigh-Q whispering gallery mode resonators can split under the influence of particle scattering. Now scientists have exploited this splitting to accurately determine particle sizes.

Kippenberg, Tobias J.

2010-01-01

238

7 CFR 51.2002 - Split shell.  

Code of Federal Regulations, 2013 CFR

...51.2002 Split shell. Split shell means a shell having any crack which is open and conspicuous for a distance of more than one-fourth the circumference of the shell, measured in the direction of the...

2013-01-01

239

Stability of split Stirling refrigerators  

NASA Astrophysics Data System (ADS)

In many thermal systems spontaneous mechanical oscillations are generated under the influence of large temperature gradients. Well-known examples are Taconis oscillations in liquid-helium cryostats and oscillations in thermoacoustic systems. In split Stirling refrigerators the compressor and the cold finger are connected by a flexible tube. The displacer in the cold head is suspended by a spring. Its motion is pneumatically driven by the pressure oscillations generated by the compressor. In this paper we give the basic dynamic equations of split Stirling refrigerators and investigate the possibility of spontaneous mechanical oscillations if a large temperature gradient develops in the cold finger, e.g. during or after cool down. These oscillations would be superimposed on the pressure oscillations of the compressor and could ruin the cooler performance.

de Waele, A. T. A. M.; Liang, W.

2009-02-01

240

Quantum Teleportation and Beam Splitting  

Microsoft Academic Search

:   Following the previous paper in which quantum teleportation is rigorously discussed with coherent entangled states given\\u000a by beam splittings, we further discuss two types of models, the perfect teleportation model and non-perfect teleportation\\u000a model, in a general scheme. Then the difference among several models, i.e., the perfect models and the non-perfect models,\\u000a is studied. Our teleportation models are constructed

Karl-Heinz Fichtner; Masanori Ohya

2002-01-01

241

Hyperfine splitting in noncommutative spaces  

Microsoft Academic Search

We study the hyperfine splitting in the framework of the noncommutative quantum mechanics (NCQM) developed in the literature. The results show deviations from the usual quantum mechanics. We show that the energy difference between two excited F=I+\\\\frac{1}{2} and the ground F=I-\\\\frac{1}{2} states in a noncommutative space (NCS) is bigger than the one in the commutative case, so the radiation wavelength

S. A. Alavi

2008-01-01

242

Acupuncture and the Heart-Mind Split  

Microsoft Academic Search

The Oriental medical concept of a Heart-mind split has no obvious counterpart in Western medicine. Patients with such a split are often labelled as anxious or depressed, and treated pharmacologically. The author contends that the omission occurs because the split is a fundamental feature of collective consciousness, and an expression of both medicine and scientific rationalism. He goes on to

Michael T. Greenwood

243

Split Selection Methods for Classification Trees  

Microsoft Academic Search

Classification trees based on exhaustive search algorithms tend to be biased towards selectingvariables that afford more splits. As a result, such trees should be interpreted with caution.This article presents an algorithm called QUEST that has negligible bias. Its split selectionstrategy shares similarities with the FACT method, but it yields binary splits and the final treecan be selected by a direct

Wei-yin Loh; Yu-shan Shih

1997-01-01

244

Line splitting in the Schumann resonance oscillations  

Microsoft Academic Search

We discuss detection of line splitting in the global electromagnetic (Schumann) resonances. The lifting of resonance degeneracy is usually not visible in the ordinary power spectrum of either the electric or magnetic field components since splitting is small in comparison with the natural width of the resonance lines. Splitting may be detected by exploiting the spatial structure of the fields

A. P. Nickolaenko; Davis D. Sentman

2007-01-01

245

Evolutionary hypothesis for Chiari type I malformation.  

PubMed

Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (?5mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7million years. PMID:23948602

Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme

2013-08-12

246

Jaw development and malformation in cultured striped trumpeter Latris lineata  

Microsoft Academic Search

Intensive culture of striped trumpeter (Latris lineata) has resulted in a high incidence of jaw malformation in juveniles. In this study, cranial and jaw development in striped trumpeter was described in cultured larvae reared in greenwater on rotifers and Artemia. Jaw malformation was only evident in post-flexion larvae greater than the standard length of 10 mm and was characterised by

J. M Cobcroft; P. M Pankhurst; J Sadler; P. R Hart

2001-01-01

247

Congenital malformations of the external and middle ear  

Microsoft Academic Search

With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis

S. Kösling; M. Omenzetter; S. Bartel-Friedrich

2009-01-01

248

Tumeurs et malformations vasculaires, classification anatomopathologique et imagerie  

Microsoft Academic Search

The understanding of vascular anomalies (vascular tumours and vascular malformations) was obscured, for a long time, by confusion and uncertainties in nosology and terminology. The International Society for the Study of Vascular Anomalies (ISSVA) recently adopted a classification scheme, clearly separating vascular tumours (hemangiomas of different types) which result from active cell proliferation, from vascular malformations, which are inborn defects

M. Wassef; R. Vanwijck; P. Clapuyt; L. Boon; G. Magalon

2006-01-01

249

Microsurgery for cerebral arteriovenous malformation management: a Siberian experience  

Microsoft Academic Search

Cerebral vascular malformations remain among the most difficult neurosurgical entities to treat. We report a retrospective study of the outcome in 95 consecutive patients with angiographically revealed arteriovenous malformations (AVMs). Fifty-four patients underwent microsurgical total AVM removal (group I). Forty-one patients who refused open surgery (group II) were managed either by endovascular embolisation (16 cases), radiosurgery (three) or followed up

Alexei L. Krivoshapkin; Evstafy G. Melidy

2005-01-01

250

Vascular malformations in the uterus: ultrasonographic diagnosis and conservative management  

Microsoft Academic Search

Objective: To investigate the presence and outcome of uterine vascular malformations in women with abnormal premenopausal bleeding. Study design: In this observational study 265 consecutive patients with abnormal premenopausal bleeding were examined by the same ultrasonographer with transvaginal gray-scale ultrasonography and color Doppler imaging. A final diagnosis of uterine vascular malformation was based on ultrasonographic findings, hysteroscopy or histological findings.

Dirk Timmerman; Thierry Van den Bosch; Karen Peeraer; Ellen Debrouwere; Dominique Van Schoubroeck; Luc Stockx; Bernard Spitz

2000-01-01

251

Ischio-spinal dysostosis: a previously unrecognised combination of malformations  

Microsoft Academic Search

Background. Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. Objective. To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and\\u000a spinal malformations. Materials and methods. The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38

Gen Nishimura; Mamori Kimizuka; Ryouji Shiro; Eiji Nii; Masaki Nishiyama; Toshio Kawano; Tetsui Kaku; Yuko Kawada

1999-01-01

252

Sudden death revealing Chiari type 1 malformation in two children  

Microsoft Academic Search

We report the first two fatal cases of suddden unprovoked cardiorespiratory arrest in children with previously undiagnosed Arnold-Chiari type 1 malformation. This diagnosis should be considered in children with unexplained cardiorespiratory arrest. The risk of sudden death in Arnold-Chiari type 1 malformation reinforces the indication for early neurosurgical procedure.

A. Martinot; V. Hue; F. Leclerc; L. Vallee; M. Closset; J. P. Pruvo

1993-01-01

253

The ear and its malformations: strange beliefs and misconceptions  

Microsoft Academic Search

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

Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi

2003-01-01

254

Cardiovascular malformations in congenital diaphragmatic hernia: Human and experimental studies  

Microsoft Academic Search

Background\\/Purpose: Cardiovascular malformations (CVM) associated with congenital diaphragmatic hernia (CDH) account in part for the high mortality caused by this defect. The aim of this study is to examine the nature of these malformations in a large series of autopsies and to assess if similar defects are also present in rat fetuses with experimental CDH.Methods: The incidence of CVM and

Lucia Migliazza; Christian Otten; Huimin Xia; Jose I. Rodriguez; Juan A. Diez-Pardo; Juan A. Tovar

1999-01-01

255

Bronchogenic Cysts: A Rare Congenital Cystic Malformation of the Lung  

Microsoft Academic Search

Purpose Bronchogenic cysts are rare congenital cystic malformations of the lung. We retrospectively analyzed ten cases of bronchogenic cyst (BC) to reinforce the importance of recognizing this malformation. Methods Between 1985 and 2000, ten pediatric patients with BC were treated surgically in our department. Their clinical presentation, radiological, operative, and pathological findings were analyzed retrospectively. Results There were five boys

Gülay A. Tireli; Hüseyin Özbey; Abdülkerim Temiz; Tansu Salman; Alaaddin Çelik

2004-01-01

256

Spinal meningeal malformations in children (without meningoceles or meningomyeloceles)  

Microsoft Academic Search

Multiple meningeal malformations are described: anterior or lateral meningoceles, extradural meningeal cysts, and intradural arachnoid cysts. All diverticulae appear to be extensions of the subarachnoid space, producing symptoms early or later. It is impossible to unify all these lesions because they cause multiple pathological conditions, depending upon the anatomical form or level, other systemic malformations, spinal abnormalities, or associated familial

Jacques Richaud

1988-01-01

257

Successful percutaneous coil occlusion of a large pulmonary arteriovenous malformation.  

PubMed

Pulmonary arteriovenous malformation is one of the rarest congenital anomalies of cardiovascular system. We present a case of 30-year-old female with a large pulmonary arteriovenous malformation (PAVM) arising from the right lower pulmonary artery and draining to the left atrium. She underwent successful embolization using three detachable Cook coils. PMID:15530285

Jameel, Al-Ata; Arfi, Amin Muhammed; Ayman, M S; Nasser, Mahdi; Amjad, Kouatli; Iskandar, Al-Githmi

2004-11-01

258

Depression following spinal cord injury  

Microsoft Academic Search

Although depression has been widely studied among persons with spinal cord injury, the ubiquitous and unsophisticated use of the term and presumtions about its manifestations in the rehabilitation setting have needlessly encumbered the understanding and treatment of depression. Major themes and issues in the study, measurement, and treatment of depression among persons with spinal cord injury are reviewed. Greater precision

Timothy R. Elliott; Robert G. Frank

1996-01-01

259

Primary intramedullary spinal cord germinoma.  

PubMed

Primary intramedullary spinal cord germinoma (PISCG) is an exceedingly rare diagnosis, with fewer than 30 cases reported in the literature. It is even less common in the pediatric population. Usually, initial imaging at patient presentation reveals a mass. The authors describe the unique case of a child whose initial imaging showed only focal spinal cord atrophy, which was the earliest sign of a slowly growing intramedullary lesion that was eventually proven via biopsy to represent a PISCG. The authors outline this child's diagnostically challenging presentation, review the events leading up to a diagnosis, briefly discuss PISCG, and summarize their recommendations for other physicians who may encounter a similar case. They assert that PISCG should be considered as a rare entity in the differential diagnosis of progressive spinal cord dysfunction even in the absence of an MRI abnormality of an intrinsic spinal cord mass, especially if there is unexplained focal atrophy of the cord. PMID:23432481

Madhukar, Megha; Maller, Vinod G; Choudhary, Arabinda K; Iantosca, Mark R; Specht, Charles S; Dias, Mark S

2013-02-22

260

[Thoracic surgery in neonates and infants with congenital malformations].  

PubMed

Congenital malformations of the lung and diaphragm are a challenge in paediatric surgery. Depending on the malformation they show a broad spectrum of symptoms and a varying age at manifestation. Thus there are many diagnostic and therapeutic options, which require a good knowledge of the pathology. The treatment of these complex cases should lead to early referral to paediatric centres containing an interdisciplinary team with neonatologists, paediatric pulmonologists and cardiologists, ENT surgeons, anaesthesiologists, radiologists and paediatric surgeons. Some malformations are diagnosed prenatally and need intrauterine interventions. Decisive is the early diagnosis and treatment of these malformations. Nowadays the surgical therapy of neonates and infants with malformations of the lung and diaphragm is enriched by a number of endoscopic and endoluminal techniques, which are discussed critically in this article. PMID:20020383

Metzger, R; Till, H

2009-12-17

261

Comment: valproate dose effects differ across congenital malformations.  

PubMed

Fetal valproate exposure has been associated with the highest risk of congenital malformations among antiepileptic drugs.(1) Valproate's effect is dose-dependent(1) and has been associated with multiple specific malformations.(2,3) Vadja et al.(4) examined data from the Australian Pregnancy Registry (1999-2012 data), which included 1,705 pregnancies with 436 valproate exposures.(4) They found that the use and dosages of valproate have fallen over the last 5 years. The rates of spina bifida and hypospadius in those exposed dropped with reducing dosages of valproate, but the rates of other malformations did not. Mean dosages for malformations were higher for spina bifida (2,000 mg/d) and hypospadius (2,417 mg/d) than all other malformations (1,083 mg/d). PMID:23911754

Meador, Kimford J

2013-08-02

262

The study of malformations "by the company they keep".  

PubMed Central

Our study of individuals with thalidomide embryopathy reaffirms many of the principles of clinical teratology concerning sensitivity of developing structures and specificity of action. It also highlights important features of ocular teratology that differ from those of other organ systems. Because malformations of the eye and associated structures do not significantly threaten the survival of the embryo, fetus, or neonate, any variation in prevalence in older individuals is not due to the nature of the ocular malformation but may be significantly modified by "the company they keep," the systemic malformations occurring at the same time as the original insult, whether it be an environmental, a genetic, or a local disturbance. Additionally, the presence of clusters of malformations caused by a teratogen at a specific time supports the concept of a common pathogenic mechanism and provides suggested avenues for further research into the cause of these malformations.

Miller, M T; Stromland, K

1992-01-01

263

Alternating Tip Splitting in Directional Solidification  

NASA Astrophysics Data System (ADS)

We report experimental results on the tip splitting dynamics of seaweed growth in directional solidification of succinonitrile alloys. Despite the random appearance of the growth, a tip splitting morphology was observed in which the tip alternately splits to the left and to the right. The tip splitting frequency f was found to be related to the growth velocity V as a power law f~V1.5. This finding is consistent with the predictions of a tip splitting model that is also presented. Small anisotropies are shown to lead to different kinds of seaweed morphologies.

Utter, B.; Ragnarsson, R.; Bodenschatz, E.

2001-05-01

264

Alternating tip splitting in directional solidification.  

PubMed

We report experimental results on the tip splitting dynamics of seaweed growth in directional solidification of succinonitrile alloys. Despite the random appearance of the growth, a tip splitting morphology was observed in which the tip alternately splits to the left and to the right. The tip splitting frequency f was found to be related to the growth velocity V as a power law f~V1.5. This finding is consistent with the predictions of a tip splitting model that is also presented. Small anisotropies are shown to lead to different kinds of seaweed morphologies. PMID:11384294

Utter, B; Ragnarsson, R; Bodenschatz, E

2001-05-14

265

Banking on cord blood stem cells  

Microsoft Academic Search

Umbilical cord blood gifted to non-profit public cord blood banks is now routinely used as an alternative source of haematopoietic stem cells for allogeneic transplantation for children and adults with cancer, bone marrow failure syndromes, haemoglobinopathies and many genetic metabolic disorders. Because of the success and outcomes of public cord banking, many companies now provide private cord banking services. However,

Michael J. Sullivan

2008-01-01

266

Hyperfine splitting in noncommutative spaces  

NASA Astrophysics Data System (ADS)

We study the hyperfine splitting in the framework of the noncommutative quantum mechanics (NCQM) developed in the literature. The results show deviations from the usual quantum mechanics. We show that the energy difference between two excited F=I+\\frac{1}{2} and the ground F=I-\\frac{1}{2} states in a noncommutative space (NCS) is bigger than the one in the commutative case, so the radiation wavelength in NCSs must be shorter than the radiation wavelength in commutative spaces. We also find an upper bound for the noncommutativity parameter.

Alavi, S. A.

2008-07-01

267

A classification for congenital limb malformations.  

PubMed

The classification for congenital limb malformations adopted by the American Society for Surgery of the Hand, the International Federation of Societies for Surgery of the Hand, and the International Society of Prosthetics and Orthotics is presented. This method groups similar patterns of deficiencies according to the parts that have been primarily affected by certain embryological failures, whether the insult involves a total part (skeletal and soft tissue) or only the dermomyofascial structures. The main categories of this classification are (I) failure of formation of parts. (II) failure of differentiation (separation) of parts, (III) duplication, (IV) overgrowth, (V) undergrowth, (VI) congenital constriction band syndrome, and (VII) generalized skeletal abnormalities. The rationale and method of use of the classification are discussed. This method has been tested and used in a variety of centers and has been found to be properly conceived and practical. PMID:1021591

Swanson, A B

1976-07-01

268

Treatment of arteriovenous malformations of the brain.  

PubMed

The treatment of ruptured and unruptured brain arteriovenous malformations (AVMs) is driven by the need to prevent incident or recurrent intracranial hemorrhages. Improving feasibility of the rapidly developing endovascular, neurosurgical, and radiotherapeutic procedures leads to invasive treatment of an increasing number of neurologically intact patients with accidentally diagnosed AVMs. Recent data confirm that the natural history risk of unruptured AVMs is significantly lower than the risk of those presenting with rupture, and the treatment risk of invasive management of unruptured AVMs seems higher than their natural history risk. The treatment decision algorithm for these patients remains unsettled, as no randomized clinical trial data exist on the benefit of invasive AVM treatment for patients with bled or with unbled AVMs. The recently launched study A Randomized Trial of Unruptured Brain AVMs (ARUBA) will be the first trial randomizing patients with nonhemorrhaged AVMs to invasive versus conservative management. PMID:17217851

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

2007-01-01

269

Surgical treatment of intracranial arteriovenous malformation.  

PubMed

The surgical indication and techniques of intracranial arteriovenous malformations are discussed, on the basis of 203 experiences with AVMs. A special key point in our surgical techniques is described as follows. The feeding arteries of the AVM--or the main artery at the base of the brain, which is the original source of the feeding artery--are identified and prepared, and then temporary clips are placed on these arteries to produce vascular occlusion prior to the dissection of the AVM itself. During these procedures, 20% of mannitol should be administered to prolong the permissible time of cerebral artery occlusion. The administration method of mannitol is described in detail including dose and time schedule. The new prolongation method of temporary occlusion time, for which mannitol with fluorochemicals permits longer occlusion time, is also introduced. PMID:6129587

Suzuki, J; Onuma, T; Kayama, T

1982-01-01

270

Craniofrontonasal dysplasia associated with Chiari malformation.  

PubMed

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented. PMID:20367343

Mahore, Amit; Shah, Abhidha; Nadkarni, Trimurti; Goel, Atul

2010-04-01

271

Familial Dandy-Walker malformation and leukodystrophy.  

PubMed

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

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

1997-05-01

272

Small Rho-GTPases and cortical malformations  

PubMed Central

Rho-GTPases have been found to be crucial for cytoskeleton remodelling and cell polarity, as well as key players in directed cell migration in various tissues and organs, therefore becoming good candidates for involvement in neuronal migration disorders. We recently found that genetic deletion of the small GTPase RhoA in the developing mouse cerebral cortex results in three distinct cortical malformations: a defect in the proliferation of progenitor cells during development that leads to a bigger cerebral cortex in the adult mouse, a change in the morphology of radial glial cells that results in the formation of a subcortical band heterotopia (SBH, also called Double Cortex) and an increase in the speed of migrating newborn neurons. The latter, together with the aberrant radial glial shape, is likely to be the cause of cobblestone lissencephaly, where neurons protrude beyond layer I at the pial surface of the brain.

2013-01-01

273

Malformations and the Manx Syndrome in Cats  

PubMed Central

Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.

DeForest, M. E.; Basrur, P. K.

1979-01-01

274

Complications of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

Summary Embolization is recognized as an important adjunct in the treatment of cerebral arteriovenous malformations (AVMs). We reviewed our results of embolizations for AVMs and discussed procedure-related complications. Eleven complications were recorded in 68 consecutive patients (16%). Of these, four were technical problems including a glued catheter, inability to withdraw the catheter, vessel perforation by the microcatheter, and coil migration. Other complications included three cases of ischemic symptoms due to retrograde thrombosis, two cases of asymptomatic cerebral infarction, one case of asymptomatic small haemorrhage due to venous occlusion, and one case of post-embolization haemorrhage of unknown etiology. Our morbidity rate was 7%, mortality rate was 0%, and asymptomatic complication torospectively. Further improvements to endovascular techniques and devices are required.

Sugiu, K.; Tokunaga, K.; Sasahara, W.; Watanabe, K.; Nishida, A.; Ono, S.; Nishio, S.; Date, I.; Rufenacht, D. A.

2004-01-01

275

Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.  

PubMed

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area. PMID:17043876

Golalipour, Mohammad Jafar; Mobasheri, Elham; Hoseinpour, Kaniz-Reza; Keshtkar, Abbas Ali

2006-10-17

276

Seizure risk from cavernous or arteriovenous malformations  

PubMed Central

Objectives: To determine the risk of epileptic seizures due to a brain arteriovenous malformation (AVM) or cavernous malformation (CM). Methods: In a prospective population-based study of new diagnoses of AVMs (n = 229) or CMs (n = 139) in adults in Scotland in 1999–2003, we used annual medical records surveillance, general practitioner follow-up, and patient questionnaires to quantify the risk of seizures between clinical presentation and AVM/CM treatment, last follow-up, or death. Results: The 5-year risk of first-ever seizure after presentation was higher for AVMs presenting with intracranial hemorrhage or focal neurologic deficit (ICH/FND: n = 119; 23%, 95% confidence interval [CI] 9%–37%) than for incidental AVMs (n = 40; 8%, 95% CI 0%–20%), CMs presenting with ICH/FND (n = 38; 6%, 95% CI 0%–14%), or incidental CMs (n = 57; 4%, 95% CI 0%–10%). For adults who had never experienced ICH/FND, the 5-year risk of epilepsy after first-ever seizure was higher for CMs (n = 23; 94%, 95% CI 84%–100%) than AVMs (n = 37; 58%, 95% CI 40%–76%; p = 0.02). Among adults who never experienced ICH/FND and presented with or developed epilepsy, there was no difference in the proportions achieving 2-year seizure freedom over 5 years between AVMs (n = 43; 45%, 95% CI 20%–70%) and CMs (n = 35; 47%, 95% CI 27%–67%). Conclusions: AVM-related ICH confers a significantly higher risk of a first-ever seizure compared to CMs or incidental AVMs. Adults with a CM have a high risk of epilepsy after a first-ever seizure but achieve seizure freedom as frequently as those with epilepsy due to an AVM.

Josephson, C.B.; Leach, J.-P.; Duncan, R.; Roberts, R.C.; Counsell, C.E.

2011-01-01

277

[CyberKnife stereotactic radiotherapy for mass lesions of the spinal cord and spine].  

PubMed

Introduction of a novel technology of stereotactic radiation treatment using linear accelerators, refining of systems for visualization and guidance provided rapid development of extracranial radiosurgery. Nowadays there is a possibility of precise stereotactic irradiation of lesions with different size and localization. One of the most actual and promising indications for radiosurgery are different primary and metastatic lesions and arteriovenous malformations of spinal cord and spine. Radiosurgery and hypofractionated radiotherapy with precise dose delivery during one or several sessions allow effective and safe treatment of neoplasms with any degree of radioresistance. This paper contains analysis of the first Russian experience of stereotactic radiation treatment of lesions of spinal cord and spine using robotized system CyberKnife (Accuray Inc., USA). PMID:22629848

Golanov, A V; Gorlachev, G E; Antipina, N A; Konovalov, N A; Shevelev, I N; Vetlova, E R; Zolotova, S V; Galkin, M V; Arutiunov, N V; Tissen, T P; Rodionov, P V

2012-01-01

278

Contribution of Rare Copy Number Variants to Isolated Human Malformations  

PubMed Central

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

Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.

2012-01-01

279

Split nut in blowout preventer  

SciTech Connect

An improved split nut is described for use in a blowout preventer on a well, a. the well including b. a well bore extending downward within the earth and having a bore bottom, c. a well casing extending downward within the well bore, d. a well head atop the casing above ground surface, e. the blowout preventer being installed on the well head, and including f. a preventer body having a preventer bore therethrough, fluidly connected to the well bore, g. opposed carriages horizontally slidably mounted within the preventer body, h. at least one pair of threaded actuating screws journaled within the preventor body adjacent the carraiges and the preventer bore, i. a slot in each carriage adjacent one of the actuating screws, j. ears adjacent each of the slots, and k. each of the split nuts having l. a nut base, m. a nut cap, n. a threaded nut bore adapted to threadably receive the actuacting screw therethrough, o. nut flanges extending from each nut base, adapted to slidably engage the slot ears when the nut base is positioned in the slot.

Bednarz, J.W.

1986-03-11

280

Gluon splitting in a shockwave  

NASA Astrophysics Data System (ADS)

The study of azimuthal correlations in particle production at forward rapidities in proton-nucleus collisions provides direct information about high gluon density effects, like gluon saturation, in the nuclear wavefunction. In the kinematical conditions for proton-lead collisions at the LHC, the forward di-hadron production is dominated by partonic processes in which a gluon from the proton splits into a pair of gluons, while undergoing multiple scattering off the dense gluon system in the nucleus. We compute the corresponding cross-section using the Colour Glass Condensate effective theory, which enables us to include the effects of multiple scattering and gluon saturation in the leading logarithmic approximation at high energy. This opens the way towards systematic studies of angular correlations in two-gluon production, similar to previous studies for quark-gluon production in the literature. We consider in more detail two special kinematical limits: the "back-to-back correlation limit", where the transverse momenta of the produced gluons are much larger than the nuclear saturation momentum, and the "double parton scattering limit", where the two gluons are produced by a nearly collinear splitting occurring prior to the collision. We argue that saturation effects remain important even for relatively high transverse momenta (i.e. for nearly back-to-back configurations), leading to geometric scaling in the azimuthal distribution.

Iancu, E.; Laidet, J.

2013-10-01

281

Brainstem modulation of locomotion in the neonatal mouse spinal cord  

PubMed Central

During development, descending projections to the spinal cord are immature. Available data suggest that even though these projections are not fully formed, they contribute to activation of spinal circuitry and promote development of network function. Here we examine the modulation of sacrocaudal afferent-evoked locomotor activity by descending pathways. We first examined the effects of brainstem transection on the afferent evoked locomotor-like rhythm using an isolated brainstem–spinal cord preparation of the mouse. Transection increased the frequency and stability of the locomotor-like rhythm while the phase remained unchanged. We then made histologically verified lesions of the ventrolateral funiculus and observed similar effects on the stability and frequency of the locomotor rhythm. We next tested whether these effects were due to downstream effects of the transection. A split-bath was constructed between the brainstem and spinal cord. Neural activity was suppressed in the brainstem compartment using cooled high sucrose solutions. This manipulation led to a reversible change in frequency and stability that mirrored our findings using lesion approaches. Our findings suggest that spontaneous brainstem activity contributes to the ongoing modulation of afferent-evoked locomotor patterns during early postnatal development. Our work suggests that some of the essential circuits necessary to modulate and control locomotion are at least partly functional before the onset of weight-bearing locomotion.

Gordon, Ian T; Whelan, Patrick J

2008-01-01

282

Surgical treatment of arteriovenous malformations of the posterior fossa.  

PubMed

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. PMID:515935

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

1979-11-01

283

Cerebral arteriovenous malformation in pregnancy: Presentation and neurologic, obstetric, and ethical significance  

Microsoft Academic Search

Cerebral arteriovenous malformations infrequently complicate pregnancy. We sought to determine the neurologic, obstetric, and ethical significance of such malformations. We present the clinical course of 2 pregnant women with arteriovenous malformations who experienced cerebral hemorrhage and a loss of capacity for decision making. We also review the neurologic and obstetric significance of arteriovenous malformations in pregnancy. Various treatment options with

James J. Finnerty; Christian A. Chisholm; Helen Chapple; JoAnn V. Pinkerton

1999-01-01

284

What Is Spinal Cord Injury?  

MedlinePLUS

... NICHD Research Information Clinical Trials Resources and Publications Spinal Cord Injury (SCI): Condition Information Page Content What ... back. Generally speaking, SCI is damage to the spinal nerves, the body's central and most important nerve ...

285

Overview of Spinal Cord Disorders  

MedlinePLUS

... about such things as touch, pain, temperature, and vibration from the skin to the spinal cord.) Spinal ... to feel a light touch, pain, temperature, or vibration) Changes in reflexes Loss of bladder control (urinary ...

286

Vocal cord nodules: a review.  

PubMed

Vocal cord nodules have a variety of synonyms in the literature, including laryngeal nodules, laryngeal nodes, corditis nodosa, singers' nodes, teachers' nodules, screamers' nodes, parsons' nodes, and nodular laryngitis. All of these refer essentially to the same condition. In 1954 referring to vocal cord nodules, Brodnitz and Froeschels wrote that, 'Ever since Tuerck first described the condition in 1868, discussion of the aetiology, the histological nature, and the therapy still has not ceased'. This statement still applies today. PMID:3286069

Lancer, J M; Syder, D; Jones, A S; Le Boutillier, A

1988-02-01

287

Evidence for split attentional foci.  

PubMed

A partial report procedure was used to test the ability of observers to split attention over noncontiguous locations. Observers reported the identity of 2 targets that appeared within a 5 x 5 stimulus array, and cues (validity = 80%) informed them of the 2 most likely target locations. On invalid trials, 1 of the targets appeared directly in between the cued locations. Experiments 1, 1a, and 2 showed a strong accuracy advantage at cued locations compared with intervening ones. This effect was larger when the cues were arranged horizontally rather than vertically. Experiment 3 suggests that this effect of cue orientation reflects an advantage for processing targets that appear in different hemifields. Experiments 4 and 4a suggest that the primary mechanism supporting the flexible deployment of spatial attention is the suppression of interference from stimuli at unattended locations. PMID:10811179

Awh, E; Pashler, H

2000-04-01

288

Dephasing in coherently split quasicondensates  

SciTech Connect

We numerically model the evolution of a pair of coherently split quasicondensates. A truly one-dimensional case is assumed, so that the loss of the (initially high) coherence between the two quasicondensates is due to dephasing only, but not due to the violation of integrability and subsequent thermalization (which are excluded from the present model). We confirm the subexponential time evolution of the coherence between two quasicondensates {proportional_to}exp[-(t/t{sub 0}){sup 2/3}], experimentally observed by Hofferberth et al. [Nature 449, 324 (2007)]. The characteristic time t{sub 0} is found to scale as the square of the ratio of the linear density of a quasicondensate to its temperature, and we analyze the full distribution function of the interference contrast and the decay of the phase correlation.

Stimming, H.-P.; Mauser, N. J. [Wolfgang Pauli Institute c/o University of Vienna, A-1090 Vienna (Austria); Schmiedmayer, J. [Vienna Center for Quantum Science and Technology, Atominstitut, TU Wien, A-1020 Vienna (Austria); Mazets, I. E. [Wolfgang Pauli Institute c/o University of Vienna, A-1090 Vienna (Austria); Vienna Center for Quantum Science and Technology, Atominstitut, TU Wien, A-1020 Vienna (Austria); Ioffe Physico-Technical Institute, 194021 St. Peterburg (Russian Federation)

2011-02-15

289

Macrocephaly-capillary malformation presenting with fetal arrhythmia.  

PubMed

Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570

Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana

2012-02-13

290

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

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

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

291

Malformations among the X-linked intellectual disability syndromes.  

PubMed

Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. © 2013 Wiley Periodicals, Inc. PMID:24166814

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

2013-09-24

292

Histopathological study of congenital aortic valve malformations in 32 children  

Microsoft Academic Search

The histopathological characteristics of congenital aortic valve malformations in children were investigated. All the native\\u000a surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital\\u000a aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically. The patients’\\u000a medical records were reviewed and the clinical information was extracted. The diagnosis

Ping Huang; Hongwei Wang; Yanping Li; Peixuan Cheng; Qingjun Liu; Zhenlu Zhang; Jianying Liu

2007-01-01

293

Post-mortem examination of prenatally diagnosed fatal renal malformation  

Microsoft Academic Search

Objective:Renal malformations can be associated with genetic syndromes and chromosomal disorders. Fetal autopsy including histopathological examination of kidney is important to arrive at definite diagnosis. The objective was to assess importance of fetal autopsy and histopathology.Study Design:Retrospective analysis of cases with fetal renal malformations was done. All fetuses terminated were examined with whole body radiograph, external and internal examination and

N Kumari; M Pradhan; V H Shankar; N Krishnani; S R Phadke

2008-01-01

294

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

PubMed Central

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

Lowe, C. R.

1972-01-01

295

Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)  

Microsoft Academic Search

This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly),\\u000a capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern,\\u000a central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of

Pablo Lapunzina; Jill Clayton-Smith

296

Dandy-Walker malformation: analysis of 38 cases  

Microsoft Academic Search

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent

I. Pascual-Castroviejo; A. Velez; S. I. Pascual-Pascual; M. C. Roche; F. Villarejo

1991-01-01

297

MRI characteristics and classification of peripheral vascular malformations and tumors  

Microsoft Academic Search

Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality\\u000a in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management\\u000a since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance\\u000a imaging (MRI) is a noninvasive effective

Hicham Moukaddam; Jeffrey Pollak; Andrew H. Haims

2009-01-01

298

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

PubMed

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

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

2012-01-01

299

Multiple medullary venous malformations decreasing cerebral blood flow: Case report  

SciTech Connect

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

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

1991-02-01

300

Occupational exposure to glycol ethers and human congenital malformations  

Microsoft Academic Search

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

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

2003-01-01

301

Capillary-venous malformation in the lower limb.  

PubMed

Regional capillary malformation of a lower extremity is associated with the overgrowth of bone or soft tissue in several disorders, most commonly Klippel-Trenaunay syndrome and Parkes Weber syndrome. We have observed a subset of patients with a capillary malformation of the leg, minor growth disturbance, and prominent veins. The objective of the current study is to describe a series of patients with regional capillary malformation of the lower extremity in association with phlebectasia. This is a retrospective series of 17 patients diagnosed with capillary-venous malformation of the lower extremity. We excluded patients with clinical or radiographic evidence of lymphatic or arteriovenous malformation. Age, presentation, associated features, radiographic findings, and management were documented. In most patients the capillary malformation covered a large area without sharply demarcated borders. Four patients had one or more discrete, well-defined capillary stains involving less than 5% of the total surface area of the affected lower limb. Prominent veins were most common in the popliteal fossa and on the knee and dorsal foot. Approximately two-thirds of patients had a leg length discrepancy, with the affected leg being longer (n = 6) or shorter (n = 4); in many the affected leg was also slightly larger (n = 8) or smaller (n = 4) in girth. Radiographic imaging showed dilatation of superficial (n = 16), muscular (n = 9), and deep veins (n = 6). We characterize a subset of patients with regional capillary-venous malformation of the lower extremity with prominent veins and minor hypotrophy/hypertrophy that differs from Klippel-Trenaunay syndrome (capillary-lymphatic-venous malformation) but belongs at the minor end of the spectrum of vascular disorders with overgrowth. PMID:23829172

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

2013-07-07

302

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations  

PubMed Central

Fetal malformations complicate approximately 3% of all pregnancies. Many of these are minor or can be corrected after birth, but there are certain malformations that are lethal and others that are severe and others, that, even if corrected lead to permanent disability. Advances in prenatal diagnosis made possible the diagnosis of many fetal malformations. This led to the concept of the fetus a patient, independent of the pregnant woman, even though the moral status of the fetus is in dispute. Many of the lethal malformations are untreatable. However, for some, innovative in utero treatments, both medical and surgical, became possible. These interventions should be evaluated for the relative benefit and risk for both the fetus and the mother, because any such treatment has to involve the integrity of her body. This raises the ethical question of beneficence (to the fetus) versus the autonomy of the pregnant woman. The process of resolving this issue will be discussed, especially how to obtain a truly informed consent. For the lethal malformations or for those severe or multiple malformations whose treatment is theoretically possible but the results of such treatment are unpredictable or may lead to life long disabilities and serious burdens for the infant or child and the family, prenatal counseling should include “prenatal advance directive” and a plan for palliative care, the components of which will be described.

Fadel, Hossam E.

2012-01-01

303

Giant Cystic Cerebral Cavernous Malformation with Multiple Calcification - Case Report  

PubMed Central

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

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

2013-01-01

304

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

PubMed

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

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

2013-09-30

305

Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

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

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

2000-01-01

306

Syndromes associated with vascular tumors and malformations: a pictorial review.  

PubMed

Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system has been strongly recommended in recent years because of the need for separate therapeutic measures for patients with vascular tumors and malformations. In the ISSVA classification system, vascular tumors, which are neoplastic, are distinguished from vascular malformations, which are caused by vascular structural anomalies and are not neoplastic, on the basis of the presence or absence of neoplastic proliferation of vascular endothelial cells. It is important that radiologists be familiar with the development, diagnosis, and treatment of vascular tumors and malformations, especially the imaging features of low- and high-flow vascular malformations. Some vascular tumors and malformations develop in isolation, whereas others develop within the phenotype of a syndrome. Syndromes that are associated with vascular tumors include PHACE syndrome. Syndromes that are associated with vascular malformations include Sturge-Weber, Klippel-Trénaunay, Proteus, blue rubber bleb nevus, Maffucci, and Gorham-Stout syndromes, all of which demonstrate low flow, and Rendu-Osler-Weber, Cobb, Wyburn-Mason, and Parkes Weber syndromes, all of which demonstrate high flow. Because imaging findings may help identify such syndromes as systemic, it is important that radiologists familiarize themselves with these conditions. PMID:23322836

Nozaki, Taiki; Nosaka, Shunsuke; Miyazaki, Osamu; Makidono, Akari; Yamamoto, Asako; Niwa, Tetsu; Tsutsumi, Yoshiyuki; Aida, Noriko; Masaki, Hidekazu; Saida, Yukihisa

307

Identification of a microdeletion at 7q21.3 with fluorescence in situ hybridization in a patient with split hand/split foot (ectrodactyly)  

SciTech Connect

Split hand/split foot (SHSF), often referred to as ectrodactyly or lobster claw deformity, is a human developmental disorder characterized by a deep median cleft of the hands and feet, missing digits, and fusion of remaining digits. This anomaly can be seen alone, frequently autosomal dominant, or in association with other abnormalities. One locus for this defect has been localized to chromosome 7q21.3-q22.1. We report a patient with SHSF plus mental retardation, short stature and dysmorphic features who was found to have a microdeletion at this locus detected only with the aid of fluorescence in situ hybridization (FISH). T.H. is a 7 y.o. male who was referred for evaluation of foot anomalies and mild mental retardation. History was remarkable for growth retardation of postnatal onset and hypotonia. Renal ultrasound and audiology evaluation were normal. Physical exam revealed dysplastic ears, micrognathia, long philtrum, high narrow palate, and malformations of the feet consistent with SHSF. Family history was negative for limb abnormalities and mental retardation. A number of patients with SHSF and other anomalies have been found to have deletions involving chromosome 7q21-q22; therefore, high resolution chromosome analysis was performed in T.H. but was inconclusive. Cosmids and yeast artificial chromosomes which we had previously mapped to the SHSF critical region were used as FISH probes and a microdeletion was detected. We were thus able to determine the etiology of this child`s abnormalities and provide accurate genetic counseling, which would not have been possible with standard cytogenetic techniques. This technique also allowed us to further refine the SHSF critical region. This case illustrates the utility of FISH for the rapid identification of suspect microdeletions in SHSF. This approach should also be useful as an expeditious way of defining the critical regions for the location of genes which give rise to other developmental malformations.

Hudgins, L. [Children`s Hospital and Medical Center, Seattle, WA (United States); Massa, H.; Disteche, C. [Univ. of Washington, Seattle, WA (United States)] [and others

1994-09-01

308

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand\\/split-foot malformation type 3  

Microsoft Academic Search

The genes for human and mouse Suppressor of Fused (SU(FU)\\/Su(Fu)) in the Hedgehog signaling pathway were characterized and found to contain 12 exons. Human SU(FU) localized on chromosome 10q24–25 between the markers D10S192 and AFM183XB12. We detected three additional SU(FU) isoforms, two of which have lost their ability to interact with the transcription factor GLI1. Expression analysis using whole mount

Thomas Grimm; Stephan Teglund; Darci Tackels; Eugenio Sangiorgi; Fiorella Gurrieri; Charles Schwartz; Rune Toftgård

2001-01-01

309

Partial "targeted" embolisation of brain arteriovenous malformations  

PubMed Central

The treatment of pial arteriovenous brain malformations is controversial. Little is yet known about their natural history, their pathomechanisms and the efficacy and risks of respective proposed treatments. It is known that only complete occlusion of the AVM can exclude future risk of haemorrhage and that the rates of curative embolisation of AVMs with an acceptable periprocedural risk are around 20 to 50%. As outlined in the present article, however, partial, targeted embolisation also plays a role. In acutely ruptured AVMs where the source of bleeding can be identified, targeted embolisation of this compartment may be able to secure the AVM prior to definitive treatment. In unruptured symptomatic AVMs targeted treatment may be employed if a defined pathomechanism can be identified that is related to the clinical symptoms and that can be cured with an acceptable risk via an endovascular approach depending on the individual AVM angioarchitecture. This review article gives examples of pathomechanisms and angioarchitectures that are amenable to this kind of treatment strategy.

Hans, Franz-Josef; Geibprasert, Sasikhan; Terbrugge, Karel

2010-01-01

310

Partial tetrasomy 14 associated with multiple malformations.  

PubMed

We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. PMID:23613323

Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt-Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter

2013-04-23

311

Hypofractionated stereotactic radiotherapy for large arteriovenous malformations  

PubMed Central

Cerebral arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins, with possible serious consequences of intracranial hemorrhage. The curative treatment for AVMs includes microsurgery and radiosurgery, sometimes with embolization as an adjunct. However, controversies exist with the treatment options available for large to giant AVMs. Hypofractionated stereotactic radiotherapy (HSRT) is one treatment option for such difficult lesions. We aim to review recent literature, looking at the treatment outcome of HSRT in terms of AVM obliteration rate and complications. The rate of AVM obliteration utilizing HSRT as a primary treatment was comparable with that of stereotactic radiosurgery (SRS). For those not totally obliterated, HSRT makes them smaller and turns some lesions manageable by single-dose SRS or microsurgery. Higher doses per fraction seemed to exhibit better response. However, patients receiving higher total dose may be at risk for higher rates of complications. Fractionated regimens of 7 Gy × 4 and 6–6.5 Gy × 5 may be accepted compromises between obliteration and complication. Embolization may not be beneficial prior to HSRT in terms of obliteration rate or the volume reduction. Future work should aim on a prospectively designed study for larger patient groups and long-term follow-up results.

Wang, Huan-Chih; Chang, Rachel J.; Xiao, Furen

2012-01-01

312

Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot  

PubMed Central

We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes.???Keywords: microdissection; CGH; SHFM; ectrodactyly

Weimer, J.; Kiechle, M.; Wiedemann, U.; Tonnies, H.; Neitzel, H.; Ruhenstroth, E.; Ovens-Raeder, A.; Arnold, N.

2000-01-01

313

JSP Splitting for Improving Execution Performance  

Microsoft Academic Search

Splitting a JSP (JavaServer Pages) page into fragments can improve the execution performance of JSP pages when the Web application server can separately cache the Web page fragments obtained by executing the JSP fragments. If a JSP page is split into fragments according to the update frequency of each portion of the Web page obtained by executing the JSP page,

Takuya Nakaike; Goh Kondoh; Hiroaki Nakamura; Fumihiko Kitayama; Shin'ichi Hirose

2004-01-01

314

A Split Sprint mission to Mars  

Microsoft Academic Search

Comprehensive infrastructure analysis is central to developing architectures necessary to support the Space Exploration Initiative. In the ``Split Sprint'' architecture, the cargo is split from the crew. An efficient low thrust ``slow boat'' is used for the cargo and a high thrust ``sprint'' vehicle is used for the crew. Infrastructure analysis is utilized in developing initial element designs to meet

Kyle Shepard; Jack Duffey; Dom D'Annible; Jeff Holdridge; Walter Thompson; Robert C. Armstrong

1992-01-01

315

Aggressive Function Splitting for Partial Inlining  

Microsoft Academic Search

Partial inlining is an efficient way of inlining, which inlines only part of the callee function, thus reducing the code expansion. The key problem is how to split the callee function effectively so that both the call overhead and the code expansion can be reduced. Previous techniques either lead to function splits too large to be inlined, or fail to

Jun-Pyo Lee; Jae-Jin Kim; Soo-Mook Moon; Suhyun Kim

2011-01-01

316

A chick embryo with a yet unclassified type of cephalothoracopagus malformation and a hypothesis for explaining its genesis.  

PubMed

Cephalothoracopagus embryos are conjoined twins, who share parts of their heads, necks and bodies. Our study aims at presenting a detailed morphological analysis of a cephalothoracopagus chick embryo of developmental stage 31. Because none of the existing theories can explain the genesis of the phenotype of this embryo, we also suggest a hypothesis, which explains it. Beside the cephalothoracopagus embryo, we investigated five control embryos. With the aid of the high-resolution episcopic microscopy (HREM) technique, we created digital volume data and three-dimensional (3D) computer models of the organs and arteries of the embryos. We used the 3D models for topological analysis and for measuring the diameters of the great intrathoracic arteries. The malformed embryo showed two body backs, each containing a notochord, spinal cord and dorsal aorta. The body backs continued into separated lower bodies. The embryo had a single, four-chambered heart, single respiratory tract and single upper alimentary tract. The topology of the pharyngeal arch arteries was normal, and the diameters of these arteries were similar to that of the control embryos. We classified the embryo we investigated as a yet unknown malformation and suggest a hypothesis explaining its genesis. PMID:22971166

Maurer, B; Geyer, S H; Weninger, W J

2012-09-13

317

Innovative solar thermochemical water splitting.  

SciTech Connect

Sandia National Laboratories (SNL) is evaluating the potential of an innovative approach for splitting water into hydrogen and oxygen using two-step thermochemical cycles. Thermochemical cycles are heat engines that utilize high-temperature heat to produce chemical work. Like their mechanical work-producing counterparts, their efficiency depends on operating temperature and on the irreversibility of their internal processes. With this in mind, we have invented innovative design concepts for two-step solar-driven thermochemical heat engines based on iron oxide and iron oxide mixed with other metal oxides (ferrites). The design concepts utilize two sets of moving beds of ferrite reactant material in close proximity and moving in opposite directions to overcome a major impediment to achieving high efficiency--thermal recuperation between solids in efficient counter-current arrangements. They also provide inherent separation of the product hydrogen and oxygen and are an excellent match with high-concentration solar flux. However, they also impose unique requirements on the ferrite reactants and materials of construction as well as an understanding of the chemical and cycle thermodynamics. In this report the Counter-Rotating-Ring Receiver/Reactor/Recuperator (CR5) solar thermochemical heat engine and its basic operating principals are described. Preliminary thermal efficiency estimates are presented and discussed. Our ferrite reactant material development activities, thermodynamic studies, test results, and prototype hardware development are also presented.

Hogan, Roy E. Jr.; Siegel, Nathan P.; Evans, Lindsey R.; Moss, Timothy A.; Stuecker, John Nicholas (Robocasting Enterprises, Albuquerque, NM); Diver, Richard B., Jr.; Miller, James Edward; Allendorf, Mark D. (Sandia National Laboratories, Livermore, CA); James, Darryl L. (Texas Tech University, Lubbock, TX)

2008-02-01

318

SUSY splits, but then returns  

NASA Astrophysics Data System (ADS)

We study the phenomenon of accidental or "emergent" supersymmetry within gauge theory and connect it to the scenarios of Split Supersymmetry and Higgs compositeness. Combining these elements leads to a significant refinement and extension of the proposal of Partial Supersymmetry, in which supersymmetry is broken at very high energies but with a remnant surviving to the weak scale. The Hierarchy Problem is then solved by a non-trivial partnership between supersymmetry and compositeness, giving a promising approach for reconciling Higgs naturalness with the wealth of precision experimental data. We discuss aspects of this scenario from the AdS/CFT dual viewpoint of higher-dimensional warped compactification. It is argued that string theory constructions with high scale supersymmetry breaking which realize warped/composite solutions to the Hierarchy Problem may well be accompanied by some or all of the features described. The central phenomenological considerations and expectations are discussed, with more detailed modelling within warped effective field theory reserved for future work.

Sundrum, Raman

2011-01-01

319

Eosinophilic Myelitis in the Cervical Cord Mimicking Intramedullary Cord Tumor  

PubMed Central

Eosinophilic myelitis (EM) or atopic myelitis is a rare disease characterized by a myelitic condition in the spinal cord combined with allergic process. This disease has specific features of elevated serum IgE level, active reaction to mite specific antigen and stepwise progression of mostly the sensory symptoms. Toxocariasis can be related with a form of EM. This report describes two cases of cervical eosinophilic myelitis initially considered as intramedullary tumors. When a differential diagnosis of the intramedullary spinal cord lesion is in doubt, evaluation for eosinophilic myelitis and toxocariasis would be beneficial.

Park, Cheon Wook; Chun, Young Il

2012-01-01

320

Eosinophilic myelitis in the cervical cord mimicking intramedullary cord tumor.  

PubMed

Eosinophilic myelitis (EM) or atopic myelitis is a rare disease characterized by a myelitic condition in the spinal cord combined with allergic process. This disease has specific features of elevated serum IgE level, active reaction to mite specific antigen and stepwise progression of mostly the sensory symptoms. Toxocariasis can be related with a form of EM. This report describes two cases of cervical eosinophilic myelitis initially considered as intramedullary tumors. When a differential diagnosis of the intramedullary spinal cord lesion is in doubt, evaluation for eosinophilic myelitis and toxocariasis would be beneficial. PMID:23133734

Park, Cheon Wook; Choe, Woo Jin; Chun, Young Il

2012-10-22

321

Multistaged volumetric management of large arteriovenous malformations.  

PubMed

We sought to define the long-term outcomes and risks of arteriovenous malformation (AVM) management using 2 or more stages of stereotactic radiosurgery (SRS) for symptomatic large-volume AVMs unsuitable for surgery. Two decades ago, we prospectively began to stage anatomical components in order to deliver higher single doses to AVMs>10 cm3 in volume. Forty-seven patients with large AVMs underwent volume-staged SRS. The median interval between the two SRS procedures was 4.9 months (range, 3-14 months). The median nidus volume was 11.5 cm3 (range, 4.0-26 cm3) in the first stage of SRS and 9.5 cm3 in the second. The median margin dose was 16 Gy (range, 13-18 Gy) for both SRS stages. The actuarial rates of total obliteration after 2-staged SRS were 7, 20, 28 and 36% at 3, 4, 5 and 10 years, respectively. Sixteen patients needed additional SRS at a median interval of 61 months (range, 33-113 months) after the 2-staged SRS. After repeat procedure(s), the eventual obliteration rate was 66% at 10 years. The cumulative rates of AVM hemorrhage after SRS were 4.3, 8.6, 13.5 and 36.0% at 1, 2, 5 and 10 years, respectively. Symptomatic adverse radiation effects were detected in 13% of patients. Successful prospective volume-staged SRS for large AVMs unsuitable for surgery requires 2 or more procedures to complete the obliteration process. Patients remain at risk for hemorrhage if the AVM persists. PMID:23258511

Kano, Hideyuki; Kondziolka, Douglas; Flickinger, John C; Park, Kyung-Jae; Parry, Phillip V; Yang, Huai-che; Sirin, Sait; Niranjan, Ajay; Novotny, Josef; Lunsford, L Dade

2012-12-11

322

Epidemiology and natural history of arteriovenous malformations.  

PubMed

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

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

2001-11-15

323

AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS  

PubMed Central

ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.

Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

2004-01-01

324

Stem Cells for Spinal Cord Repair  

Microsoft Academic Search

The spinal cord is the main relay for signals between the brain and the body. Spinal cord injury completely or partially deprives the individual of mobility and sensory input as well as autonomic nervous system control below the level of the lesion. The major- ity of spinal cord injuries affect the cervical segments, leaving the patient para- or tetraplegic depending

Fanie Barnabe; Jonas Frisen

2008-01-01

325

Torsion of the spermatic cord after orchiopexy  

Microsoft Academic Search

The cases of spermatic cord torsion reported here show that this condition may occur even some time after fixation. Three men, aged 22, 30 and 35 years, visited the urologist with complaints of an acute scrotum following earlier orchiopexy for spermatic cord torsion. Different techniques are employed to fixate the testicles after spermatic cord torsion. These cases confirm that Jaboulay's

A. M. A. de Vylder; A. J. Breeuwsma; M. F. van Driel; E. Fonteyne; J. M. Nijman

2006-01-01

326

Electrophysiology of mammalian spinal cord in vitro  

Microsoft Academic Search

MAMMLIAN spinal cord has often been used in electrophysiological studies where the experiments were carried out exclusively on the spinal cord in situ1. An obvious disadvantage of such experiments is that the concentrations of ions or drugs studied cannot be controlled precisely in the extracellular medium. To overcome that disadvantage, we have developed an isolated spinal cord preparation of the

Masanori Otsuka; Shiro Konishi

1974-01-01

327

Umbilical cord blood transplant in human  

Microsoft Academic Search

Human cord and placental blood provides a rich source of hematopoietic stem cells. On the basis of the finding, umbilical cord blood stem cells have been used to reconstitute hematopoiesis in children with malignant and non malignant diseases after treatment with myeloablative doses of chemoradiotherapy. Early results show, that a single cord blood provides enough hematopoietic stem cells to provide

E. Gluckman

1997-01-01

328

Altered Intrinsic Properties of Neuronal Subtypes in Malformed Epileptogenic Cortex  

PubMed Central

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

George, Amanda L.; Jacobs, Kimberle M.

2011-01-01

329

Neuroimaging of dandy-walker malformation: new concepts.  

PubMed

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

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

2011-12-01

330

Basilar impression, Chiari malformation and syringomyelia: a retrospective study of 53 surgically treated patients.  

PubMed

The present study shows the results of 53 patients who have been treated surgically for basilar impression (BI), Chiari malformation (CM), and syringomyelia (SM). The patients were divided into two groups. Group I (24 patients) underwent osteodural decompression with large inferior occipital craniectomy, laminectomy from C 1 to C 3, dural opening in Y format, dissection of arachnoid adhesion between the cerebellar tonsils, medulla oblongata and spinal cord, large opening of the fourth ventricle and dural grafting with the use of bovine pericardium. Group II patients (29 patients) underwent osteodural-neural decompression with the same procedures described above plus dissection of the arachnoid adherences of the vessels of the region of the cerebellar tonsils, and tonsillectomy (amputation) in 10 cases, and as for the remainning 19 cases, intrapial aspiration of the cerebellar tonsils was performed. The residual pial sac was sutured to the dura in craniolateral position. After completion of the suture of the dural grafting, a thread was run through the graft at the level of the created cisterna magna and fixed to the cervical aponeurosis so as to move the dural graft on a posterior- caudal direction, avoiding, in this way, its adherence to the cerebellum. PMID:12894269

da Silva, José Alberto Gonçalves; Holanda, Maurus Marques de Almeida

2003-07-28

331

Spinal cord stimulation revisited.  

PubMed

The proportion of patients with intractable pain successfully managed with spinal cord stimulation (SCS) remains disputed. We analyze 27 consecutive patients with intractable pain treated with SCS using identical hardware (Itrel II System; Medtronic Neurological, Inc Minneapolis, MN, USA) by a single satisfactory diagnosis 1992 through 1995. A rigid selection protocol was used: 1. A satisfactory diagnosis of the pathologic process resulting in pain was made. 2. A corrective surgical procedure was judged not feasible by surgeons experienced in the particular pathology, e.g., vascular peripheral nerve, spine. 3. Lack of satisfactory response to noninterventional pain management modalities by an interdisciplinary pain clinic. 4. Independent psychological evaluation, including a structured interview was performed by a psychologist specialized in chronic pain management. In the last eight cases, a battery of self-report tests designed to assess psychosocial and behavioral consequences of the chronic pain problem were administered as well. All cases were of nonmalignant pain, except for one patient. Thirteen cases were diagnosed with failed back surgery syndrome (FBSS), one older patient with lumbosacral radiculopathy who refused decompression, one cervical radiculopathy and Klippel-Feil syndrome, six with reflex sympathetic dystrophy (RSD), two with peripheral vascular ischemic disease, one with post-thoracotomy pain syndrome, one with leg pain following resection of angiolipoma, one with traumatic superficial peroneal neuropathy, and one with Pancoast's tumor. Fifteen patients were female and twelve were male. All were Caucasian. Their ages ranged from 27 to 84 years (mean:48). The average follow-up was 21 months (range: 48-6). All patients underwent a three day trial screening with Pisces-Quad/Resume epidural leads connected to a temporary external stimulator. An Itrel II System pulse-generator was internalized in each of the 24 patients who had successful trial (three cervical and twenty-one thoracic-lumbar). There was no morbidity. Pain reduction was sustained in 22 out of the 24 patients who continue to use the stimulator. The same number would choose to receive in an electrical stimulator again. Normalization or improvement in Quantitative Sudomotor Axon Reflex Test (Q-SART) and Thermography was documented in the patients with RSD. We conclude that rigid selection protocol can maximize the proportion of patients with intractable pain who are successfully treated with SCS. Strict neurosurgical technique eliminates infection risk. Hardware selection minimizes incidence of malfunction. PMID:9664583

Segal, R; Stacey, B R; Rudy, T E; Baser, S; Markham, J

1998-07-01

332

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

PubMed

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

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

2010-09-08

333

Fatal Cardiovascular Collapse During Ethanol Sclerotherapy of a Venous Malformation  

PubMed Central

Summary We report a case of fatal cardiovascular collapse that occurred during Ethanol sclerotherapy of a venous malformation in a 21-year-old woman. The malformation was located on the anterior part of the thigh. Fifty ml of a mixture of Ethanol, Ethibloc and Lipiodol containing 35 ml of Ethanol (0.52 ml / kg) were injected under fluoroscopy. A major drop in arterial pressure was recorded after release of the tourniquet placed at the thigh root. The patient died after four hours of intensive cardiac reanimation. Her blood alcohol level was 0.4 g/l one hour after the end of the intervention. The cardiac toxicity of ethanol depends more on the potential acute venous contamination than on the blood alcohol concentration. The currently admitted “safety limit” of 1 ml/kg of bodyweight for ethanol sclerotherapy of venous malformations is certainly unsafe and must be redefined.

Chapot, R.; Laurent, A.; Enjolras, O.; Payen, D.; Houdart, E.

2002-01-01

334

Chiari-I malformation associated with asymmetric sensorineural hearing loss.  

PubMed

Chiari-I malformation is a deformity of the structures of the posterior fossa in which there is inferior herniation of the cerebellar tonsils through the foramen magnum without significant caudal dislocation of the brainstem. Patients are usually asymptomatic until adulthood, when they commonly present with recurrent headaches, weakness, vertigo and/or imbalance, nystagmus and hearing loss. A review of 226 consecutive patients evaluated for asymmetric sensorineural hearing loss revealed 32 patients with retrocochlear pathology. Three of these patients were discovered to have a Chiari-I malformation by magnetic resonance imaging as their only pathology. We suggest a possible association between a Chiari-I malformation and isolated asymmetric sensorineural hearing loss secondary to long-standing traction on the eighth cranial nerve. PMID:1583702

Hendrix, R A; Bacon, C K; Sclafani, A P

1992-04-01

335

Basic genetic principles applied to posterior fossa malformations.  

PubMed

Recent advances in neuroimaging techniques turned possible for neuroradiologists to be frequently the first one to detect possible brain structural anomalies. However, with all the recent advances in genetics and embryology, understanding posterior fossa malformation's principles is being hardest to be achieved than previously. Studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding candidate genes involved in disrupted developmental processes. The main focus of this review was to survey the basic principles of the rhombomere division, anteroposterior and dorsoventral patterning, alar and basal zone concept, and axonal path finding to integrate the knowledge of human hindbrain malformations for better understanding the genetic basis of hindbrain development. PMID:24132065

Nunes, Renato Hoffmann; Littig, Ingrid Aguiar; da Rocha, Antonio Jose; Vedolin, Leonardo

2011-12-01

336

Flux Vector Splitting in General Curvilinear Coordinates,  

National Technical Information Service (NTIS)

Two-dimensional Euler equations have been solved using the flux vector splitting method. The discretization is made in a finite volume form. The resulting equations are solved with an approximately factored implicit scheme. Two different boundary procedur...

T. Siikonen

1988-01-01

337

Hydrogen productivity by photosynthetic water splitting.  

National Technical Information Service (NTIS)

This paper reviews recent progress in the field of hydrogen production by photosynthetic water splitting for both in vitro and in vivo systems. Absolute thermodynamic efficiencies of conversion of light energy into energy of molecular hydrogen by intact m...

E. Greenbaum

1990-01-01

338

Error Bounds for Exponential Operator Splittings  

Microsoft Academic Search

Error bounds for the Strang splitting in the presence of unbounded operators are derived in a general setting and are applied to evolutionary Schrödinger equations and their pseudo-spectral space discretization.

Tobias Jahnke; Christian Lubich

2000-01-01

339

Development of fracture splitting connecting rod  

Microsoft Academic Search

The fracture splitting method used with connecting rod (C\\/rod) is attracting attention as a mechanical method that can reduce production cost by decreasing the manufacturing process. In this method, powder metals and forged steel (C70S6) are generally used. These materials are superior in fracture splitting properties, but inferior in fatigue strength and machinability. Therefore, the authors developed microalloyed steel for

Shinsaku Fukuda; Hirohito Eto

2002-01-01

340

Error Bounds For Exponential Operator Splitting  

Microsoft Academic Search

.Error bounds for Strang splitting in the presence of unbounded operators are derivedin a general setting and are applied to evolutionary Schrodinger equations and theirpseudo-spectral space discretization.AMS subject classification: 65M15, 65L05, 65M70.Key words: Strang splitting, Trotter product, Schrodinger equation, error bounds.1 Introduction.In partial differential equations of quantum mechanics and many other areas,a widely used approach to numerically solving the linear...

Christian Lubich; Tobias Jahnke

2000-01-01

341

Antenna Splitting Functions for Massive Particles  

SciTech Connect

An antenna shower is a parton shower in which the basic move is a color-coherent 2 {yields} 3 parton splitting process. In this paper, we give compact forms for the spin-dependent antenna splitting functions involving massive partons of spin 0 and spin 1/2. We hope that this formalism we have presented will be useful in describing the QCD dynamics of the top quark and other heavy particles at LHC.

Larkoski, Andrew J.; Peskin, Michael E.; /SLAC

2011-06-22

342

Phagocytic Cells in Cord Blood  

Microsoft Academic Search

A suspension of fine carbon particles was added to cord blood of healthy premature and full-term infants, and the mixture was incubated for 3 h, after which the uptake of carbon particles by blood leukocytes was examined. The results were compared with those from the blood of adults. A gradient of phagocytic activity was observed. The most active uptake of

Gregor Prindull; Brigitte Prindull; Zvi Palti; Joseph M. Yoffey

1975-01-01

343

SPINAL CORD INJURY (SCI) DATABASE  

EPA Science Inventory

The National Spinal Cord Injury Database has been in existence since 1973 and captures data from SCI cases in the United States. Since its inception, 24 federally funded Model SCI Care Systems have contributed data to the National SCI Database. Statistics are derived from this da...

344

Umbilical Cord Blood: Information for Childbirth Educators  

PubMed Central

Umbilical cord blood was once thought of as a waste product. Now, years after the first successful umbilical cord blood transplant, more families seek information about whether or not to save their newborn’s cord blood. Childbirth educators may be one of the main sources that an expectant family depends on to gain more knowledge about cord blood banking in order to make an informed decision. Preserving umbilical cord blood in public banks is advisable for any family; however, it is recommended that expectant families only consider private cord blood banking when they have a relative with a known disorder that is treatable by stem cell transplants. The childbirth educator is encouraged to be well versed on the topic of cord blood banking, so that as questions from class participants arise, the topic can be explored and addressed appropriately.

Waller-Wise, Renece

2011-01-01

345

Hox genes and spinal cord development.  

PubMed

The spinal cord is differentiated along the rostrocaudal axis into large domains with regional distinctions reflected in the position and projection of specific cell types. Spinal cord patterning is likely to be mediated by the local expression and activity of transcription factors. This review will examine the expression of one class of transcription factors, encoded by the Hox genes, that are active in spinal cord patterning. Hox genes encode homeodomain-containing proteins with overlapping rostrocaudal domains of expression in the developing spinal cord. Rostrally expressed Ant-p/Ubx/Abd-D-related Hox genes may function in patterning the cervical spinal cord, while Abd-D-related, caudally expressed Hox genes may pattern the lumbar spinal cord. Changes in spinal cord patterning are apparent following Hox gene inactivation, supporting a role for these genes in defining or establishing this pattern. PMID:12145408

Carpenter, Ellen M

2002-01-01

346

Utility of spinal MRI in children with anorectal malformation  

Microsoft Academic Search

Background  The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered\\u000a cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered\\u000a cord is as common in patients with a low lesion as in those with a high lesion.\\u000a \\u000a \\u000a \\u000a Objective  To review the incidence of spinal

Mikiko Miyasaka; Shunsuke Nosaka; Yoshihiro Kitano; Katsuhiko Ueoka; Yoshiyuki Tsutsumi; Tatsuo Kuroda; Toshiroh Honna

2009-01-01

347

Neurosurgical vascular malformations in children under 1 year of age  

Microsoft Academic Search

Purpose  This study aims to analyze the clinical and radiological findings, timing and type of treatment, and outcome in children under\\u000a 1 year of age that presented with neurosurgical vascular malformations.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  A retrospective review of 23 children under 1 year of age with neurosurgical vascular malformations was performed at a single\\u000a institution between 1999 and 2009.\\u000a \\u000a \\u000a \\u000a \\u000a Results  The lesions found in this age group

Graciela Zuccaro; Romina Argañaraz; Francisco Villasante; Alejandro Ceciliano

2010-01-01

348

Uncommon cavernous malformation of the optic chiasm: a case report.  

PubMed

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

Ning, Xianbin; Xu, Kan; Luo, Qi; Qu, Limei; Yu, Jinlu

2012-08-14

349

Hydrosalpinx in a patient with complex genitourinary malformation.  

PubMed

We describe an adolescent female patient born with a complex genitourinary malformation including bilateral duplex system and duplication of the müllerian structures (bicornuate uterus and septate vagina). She presented with a symptomatic hydrosalpinx. The typical imaging of this condition is described along with the issues associated with the differential diagnosis in this complex scenario. The diagnosis of hydrosaplinx should be suspected in patients with complex genitourinary malformations and a pelvic fluid collection. Associated genital and renal anomalies are noted in 30% of cases. PMID:21034959

Zhapa, Evisa; Rigamonti, Waifro; Castagnetti, Marco

2010-11-01

350

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.  

PubMed Central

We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndrome could be an isolated entity or a final common pathway of response of these organs to a variety of developmental disturbances, which could also include splenic abnormalities. We propose an autosomal recessive pattern of inheritance for renal-hepatic-pancreatic dysplasia. Images

Torra, R; Alos, L; Ramos, J; Estivill, X

1996-01-01

351

Diffusion tensor imaging and fiber tractography in brain malformations.  

PubMed

Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized. PMID:23288476

Poretti, Andrea; Meoded, Avner; Rossi, Andrea; Raybaud, Charles; Huisman, Thierry A G M

2013-01-04

352

Uncommon cavernous malformation of the optic chiasm: a case report  

PubMed Central

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

2012-01-01

353

Parry-Romberg syndrome associated with intracranial vascular malformations.  

PubMed

We describe a 23-year-old woman with iridocyclitis, enophthalmos, facial hemiatrophy, and transient numbness of her contralateral upper and lower extremities. The patient was found to have white matter densities in the right hemisphere in magnetic resonance T2-weighted images and vascular malformations involving right vertebral, right carotid, and right anterior cerebral arteries. Histopathologic evaluation of a biopsy specimen of anterior orbital fat and lacrimal gland revealed fibrosis and chronic inflammation. These findings were consistent with the diagnosis of progressive facial hemiatrophy (Parry-Romberg syndrome) in association with iridocyclitis and intracranial vascular malformations. PMID:9747688

Miedziak, A I; Stefanyszyn, M; Flanagan, J; Eagle, R C

1998-09-01

354

[Polysplenia syndrome: two cases in adults revealed by biliary and pancreatic malformations].  

PubMed

Polysplenia Syndrome (PS) associates multiple spleens with other malformations usually cardiac, vascular, visceral and biliary. The diversity of these malformations and their embryological mechanisms are described in relation to two cases of PS that were diagnosed in adults. PMID:18166868

Puche, Pierre; Jacquet, Eric; Godlewski, Guilhem; Carabalona, Jean-Pierre; Domergue, Jacques; Navarro, Francis; Prudhomme, Michel

2007-10-01

355

Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.  

PubMed

There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870

Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

2011-11-01

356

Parasitic rachipagus conjoined twins with spina bifida, diplomyelia, scoliosis, tethered cord syndrome, and ventricular septal defect--case report.  

PubMed

A 17-year-old girl presented with a rare case of parasitic rachipagus conjoined twins associated with spina bifida, diplomyelia, scoliosis, tethered cord syndrome, and ventricular septal defect. Physical examination found a well developed breast and an apophysis on the back of the patient, and neuroimaging demonstrated scoliosis, spina bifida from T8 to L5, butterfly-shaped vertebra of T6, abnormal bone behind T7, diplomyelia, and tethered cord. Successful surgical excision of the parasitic mass was performed. Histological examination discovered uterine tube, Muller's duct, bone, cartilage, and nerve tissue besides the mammary gland. Rachipagus conjoined twins are extremely rare, but should be considered if well developed abnormal tissue is found in the dorsal midline of the spine. However, the possibility of malformations in other organs in the autosite should be considered. Careful preoperative examination and refined microsurgery may provide good outcome for the patient. PMID:22027254

Zhang, Jiayong; Duan, Hongzhou; Zhang, Yang; Yi, Zhiqiang; Bao, Shengde

2011-01-01

357

DETECTION OF FLUX EMERGENCE, SPLITTING, MERGING, AND CANCELLATION OF NETWORK FIELD. I. SPLITTING AND MERGING  

SciTech Connect

Frequencies of magnetic patch processes on the supergranule boundary, namely, flux emergence, splitting, merging, and cancellation, are investigated through automatic detection. We use a set of line-of-sight magnetograms taken by the Solar Optical Telescope (SOT) on board the Hinode satellite. We found 1636 positive patches and 1637 negative patches in the data set, whose time duration is 3.5 hr and field of view is 112'' Multiplication-Sign 112''. The total numbers of magnetic processes are as follows: 493 positive and 482 negative splittings, 536 positive and 535 negative mergings, 86 cancellations, and 3 emergences. The total numbers of emergence and cancellation are significantly smaller than those of splitting and merging. Further, the frequency dependence of the merging and splitting processes on the flux content are investigated. Merging has a weak dependence on the flux content with a power-law index of only 0.28. The timescale for splitting is found to be independent of the parent flux content before splitting, which corresponds to {approx}33 minutes. It is also found that patches split into any flux contents with the same probability. This splitting has a power-law distribution of the flux content with an index of -2 as a time-independent solution. These results support that the frequency distribution of the flux content in the analyzed flux range is rapidly maintained by merging and splitting, namely, surface processes. We suggest a model for frequency distributions of cancellation and emergence based on this idea.

Iida, Y.; Yokoyama, T. [Department of Earth and Planetary Science, University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan); Hagenaar, H. J. [Lockheed Martin Advanced Technology Center, Org. ADBS, Building 252, 3251 Hanover Street, Palo Alto, CA 94304 (United States)

2012-06-20

358

Detection of Flux Emergence, Splitting, Merging, and Cancellation of Network Field. I. Splitting and Merging  

NASA Astrophysics Data System (ADS)

Frequencies of magnetic patch processes on the supergranule boundary, namely, flux emergence, splitting, merging, and cancellation, are investigated through automatic detection. We use a set of line-of-sight magnetograms taken by the Solar Optical Telescope (SOT) on board the Hinode satellite. We found 1636 positive patches and 1637 negative patches in the data set, whose time duration is 3.5 hr and field of view is 112'' × 112''. The total numbers of magnetic processes are as follows: 493 positive and 482 negative splittings, 536 positive and 535 negative mergings, 86 cancellations, and 3 emergences. The total numbers of emergence and cancellation are significantly smaller than those of splitting and merging. Further, the frequency dependence of the merging and splitting processes on the flux content are investigated. Merging has a weak dependence on the flux content with a power-law index of only 0.28. The timescale for splitting is found to be independent of the parent flux content before splitting, which corresponds to ~33 minutes. It is also found that patches split into any flux contents with the same probability. This splitting has a power-law distribution of the flux content with an index of -2 as a time-independent solution. These results support that the frequency distribution of the flux content in the analyzed flux range is rapidly maintained by merging and splitting, namely, surface processes. We suggest a model for frequency distributions of cancellation and emergence based on this idea.

Iida, Y.; Hagenaar, H. J.; Yokoyama, T.

2012-06-01

359

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

ERIC Educational Resources Information Center

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

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

360

Changing role for preoperative embolisation in the management of arteriovenous malformations of the brain  

Microsoft Academic Search

Background: The aim of this study was to analyse the results of the use of preoperative embolisation in the management of arteriovenous malformations of the brain at one institution between 1989 and 1999.Methods : Two hundred and fifty consecutive cases of angiographically confirmed arteriovenous malformations underwent surgery by one surgeon. Cases of dural or spinal arteriovenous malformations have been excluded.

M. K. Morgan; A. A. R. Zurin; T. Harrington; N. Little

2000-01-01

361

Surgical Management of Chiari Malformation: Analysis of 128 Cases  

Microsoft Academic Search

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

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

2007-01-01

362

Clinical implications of uterine malformations and hysteroscopic treatment results  

Microsoft Academic Search

Uterine malformations consist of a group of miscellaneous congenital anomalies of the female genital system. Their mean prevalence in the general population and in the population of fertile women is ~4.3%, in infertile patients ~3.5% and in patients with recurrent pregnancy losses ~13%. Septate uterus is the commonest uterine anomaly with a mean incidence of ~35% followed by bicornuate uterus

Grigoris F. Grimbizis; Michel Camus; Basil C. Tarlatzis; John N. Bontis; Paul Devroey

363

Thalidomide-induced limb malformations — a prosthetic review  

Microsoft Academic Search

The embryopathy-producing drug 'thalidomide' resulted in an estimated 349 babies born in the UKwith congenital malformations during the period 1959-62. All known affected babies were registered, and a 'Thalidomide Society and Trust' was formed to administer the financial settlements offered by the manufacturers of the drug and the British Government. Individual prosthetic centres found great difficulty at the time in

Nabil M Mustapha

1990-01-01

364

Mathematical Models for Tubular Malformations during Virus Assembly of Papovaviridae  

Microsoft Academic Search

An important stage of the viral life cycle is the formation of a protein shell, called the viral capsid, that protects the viral genome. While the viral capsids of infectious virus particles correspond to closed shells, there also occur tubular open structures during assembly as non-infectious malformations. In (1, 2) viral tiling theory (VT-theory) has been introduced as a new

REIDUN TWAROCK

365

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

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

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

366

Proximity to pollution sources and risk of amphibian limb malformation.  

PubMed

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

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

2005-11-01

367

Clival dysgenesis associated with Chiari Type 1 malformation and syringomyelia  

Microsoft Academic Search

We report an 11-year-old boy with dysgenesis of the clivus. The boy presented complaining of progressive difficulty in walking. The clival anomaly was associated with severe basilar invagination, Chiari Type 1 malformation and syringomyelia. Our literature search did not reveal any previous reports of this combination of conditions. The patient obtained relief from his symptoms following a foramen magnum decompression.

Abhidha Shah; Atul Goel

2010-01-01

368

Presentation and Management of Chiari I Malformation in Children  

Microsoft Academic Search

To determine the efficacy of operative treatment for children with Chiari I malformation, the medical records and magnetic resonance imaging (MRI) studies of 68 consecutive patients cared for at The Children’s Hospital, Boston, Mass., USA, from December, 1988 to November, 1996 were retrospectively reviewed. All patients underwent suboccipital craniectomy, Cl laminectomy, and dural grafting. Bipolar coagulation to shrink and reduce

John K. Park; P. Langham Gleason; Joseph R. Madsen; Liliana C. Goumnerova; Michael Scott

1997-01-01

369

Prenatal exposure to thalidomide, altered vasculogenesis, and CNS malformations  

Microsoft Academic Search

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

K. L. Hallene; E. Oby; B. J. Lee; S. Santaguida; S. Bassanini; M. Cipolla; N. Marchi; M. Hossain; G. Battaglia; D. Janigro

2006-01-01

370

Congenital malformations and genetic diseases in Iranian infants  

Microsoft Academic Search

Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, eleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with

D. D. Farhud; Gh.-R. Walizadeh; M. Sharif Kamali

1986-01-01

371

Management of the fetus with a cystic adenomatoid malformation  

Microsoft Academic Search

Prenatal detection and serial sonographic study of fetuses with congenital cystic adenomatoid malformation (CCAM) now makes it possible to define the natural history of this lesion, determine the pathophysiologic features that affect clinical outcome, and formulate management based on prognosis. In a series of 22 prenatally diagnosed cases, the overall prognosis depended on the effects of the lung mass and

N. Scott Adzick; Michael R. Harrison

1993-01-01

372

Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

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

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

2007-11-15

373

Aplasia cutis congenita associated with an immature arteriovenous malformation  

Microsoft Academic Search

The first case of congenital defect of the skull and scalp in Japan, probably due to an immature arteriovenous malformation, is presented. In this case, an island of healthy scalp remained intact in the central area of the scalp defect, unlike previously reported cases. The dilated, tortuous scalp vessels apparently disappeared spontaneously only after multiple ligation. Because of slow wound

H. Ohtsuka; M. Yamamoto; N. Okayama

1990-01-01

374

Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation  

ERIC Educational Resources Information Center

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

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

2012-01-01

375

The Chiari II Malformation: Lesions Discovered within the Fourth Ventricle  

Microsoft Academic Search

Structural lesions associated with the Chiari II malformation have been identified within the fourth ventricle in 8 patients. During the 42-month period encompassing the operations of the 7 patients treated surgically, only 9 other patients were explored without the discovery of some associated structural lesion. The patients ranged in age from 2 to 26 years. The following lesions were identified:

Joseph H. Piatt Jr.; Anthony D’Agostino

1999-01-01

376

Hypospadias and anorectal malformations mediated by Eph/ephrin signaling  

PubMed Central

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;EphB3?/?/ 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.

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

2007-01-01

377

Surgical treatment of venous malformations in Klippel-Trénaunay syndrome  

Microsoft Academic Search

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

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

2000-01-01

378

Periorbital lymphatic malformation: clinical course and management in 42 patients.  

PubMed

Lymphatic malformation in the orbital cavity and surrounding region often causes disfigurement and visual problems. To better clarify the evolution and treatment of this condition, the authors studied a retrospective cohort of 42 consecutive patients seen between 1971 and 2003 and analyzed anatomic features, complications, and management. The ratio of female to male patients was 1:1. Most periorbital lymphatic malformations were noted at birth (59 percent), presenting as either unilateral swelling (60 percent) or a periorbital mass (24 percent). Sixty-two percent of lesions were on the left side. The ipsilateral cheek, temple, and forehead also were involved in 57 percent of patients. Twenty-two percent of lesions were intraconal, 30 percent were extraconal, and 48 percent were in both spaces. Forty-five percent of children had an associated cerebral developmental venous anomaly. Periorbital lymphatic malformation caused major morbidity; 52 percent of patients had intralesional bleeding and 26 percent of patients had a history of infection. Other common complications included intermittent swelling (76 percent), blepharoptosis (52 percent), proptosis (45 percent), pain (21 percent), amblyopia (33 percent), chemosis (19 percent), astigmatism (17 percent), and strabismus (7 percent). Ultimately, 40 percent of children had diminished vision and 7 percent became blind in the affected eye. Management of periorbital lymphatic malformation involved an interdisciplinary team that included an interventional radiologist, a craniofacial surgeon, and an ophthalmologist. The two therapeutic strategies were sclerotherapy (40 percent) and resection (57 percent); most patients required several interventions. A coronal approach was used for subtotal excision of fronto-temporal-orbital lymphatic malformation in 13 patients, whereas a tarsal incision was used for lesions isolated to the eyelid (n = 14). Ocular proptosis was temporarily managed by tarsorrhaphy (n = 9), but expansion of the bony orbit was needed to correct persistent proptosis (n = 8). Orbital exenteration was necessary in two patients. PMID:15622227

Greene, Arin K; Burrows, Patricia E; Smith, Lois; Mulliken, John B

2005-01-01

379

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele  

PubMed Central

Background Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation) may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA) with MMC and 6 fetuses with normal cerebral development (22–41 week GA) were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US). After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation and/or hydrocephalus. Since denuded areas cannot re-establish cell function, neuro-developmental consequences could induce permanent cerebral pathology.

de Wit, Olga A; den Dunnen, Wilfred FA; Sollie, Krystyne M; Munoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodriguez, Esteban M; Sival, Deborah A

2008-01-01

380

Correlation between ultrasound diagnosis and autopsy findings of fetal malformations  

PubMed Central

Summary Objective to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods in this study, all second trimester termination of pregnancy between 2003–2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies ‘not detectable’ by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but ‘detectable’ by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination.

Vimercati, Antonella; Grasso, Silvana; Abruzzese, Marinella; Chincoli, Annarosa; de Gennaro, Alessandra; Miccolis, Angela; Serio, Gabriella; Selvaggi, Luigi; Fascilla, Fabiana Divina

2012-01-01

381

Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.  

PubMed

Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations. PMID:15214969

Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A

2004-07-01

382

Assessing suspected spinal cord compression  

Microsoft Academic Search

The object of this work was to evaluate the assessment and document the outcomes of cancer patients with suspected spinal\\u000a cord compression (SCC). In a retrospective cohort study of 342 episodes of suspected SCC in cancer patients evaluated by computed\\u000a tomography (CT) of the spine, a multidisciplinary team of neurologists, radiologists, and oncologists assessed the impact\\u000a of varying the anatomical

James A. Talcott; Paul C. Stomper; Frank W. Drislane; Patrick Y. Wen; Caroline C. Block; Charles C. Humphrey; Charles Lu; Ferenc Jolesz

1999-01-01

383

Religious perspectives on umbilical cord blood banking.  

PubMed

Umbilical cord blood is a valuable source of haematopoietic stem cells. There is little information about whether religious affiliations have any bearing on attitudes to and decisions about its collection, donation and storage. The authors provided information about umbilical cord blood banking to expert commentators from six major world religions (Catholicism, Anglicanism, Islam, Judaism, Hinduism and Buddhism) and asked them to address a specific set of questions in a commentary. The commentaries suggest there is considerable support for umbilical cord blood banking in these religions. Four commentaries provide moral grounds for favouring public donation over private storage. None attach any particular religious significance to the umbilical cord or to the blood within it, nor place restrictions on the ethnicity or religion of donors and recipients. Views on ownership of umbilical cord blood vary. The authors offer a series of general points for those who seek a better understanding of religious perspectives on umbilical cord blood banking. PMID:22558902

Jordens, Christopher F C; O'Connor, Michelle A C; Kerridge, Ian H; Stewart, Cameron; Cameron, Andrew; Keown, Damien; Lawrence, Rabbi Jeremy; McGarrity, Andrew; Sachedina, Abdulaziz; Tobin, Bernadette

2012-03-01

384

Missed injuries of the spinal cord.  

PubMed Central

Damage to the spinal cord had not been recognised initially in 15 patients out of a consecutive series of 353 admitted over a decade to the National Spinal Injuries Centre with paralysis due to trauma to the cord. In some patients the missed diagnosis led to mismanagement and a greater neurological deficit. Missed injuries of the spinal cord are seen in patients with multiple injuries and head injuries and in those without any paralysis. Various radiological errors contribute to the failure to recognise the vertebral injury. In addition to causing severe disability to the victim these missed and mismanaged injuries of the spinal cord cost the National Health Service large sums in compensation. A careful evaluation of the history of each accident, with greater awareness of the potential of certain types of accidents to cause spinal cord injury, should reduce the incidence of missed injuries of the spinal cord. Images p955-a

Ravichandran, G; Silver, J R

1982-01-01

385

Pregnancy following spinal cord injury.  

PubMed Central

Each year about 2,000 women of childbearing age in the United States have a spinal cord injury. Only a few mostly anecdotal reports describe pregnancy after such an injury. In a retrospective study of 16 women with a spinal cord injury, half of whom have a complete injury and about half quadriplegia, 25 pregnancies occurred, with 21 carried to full term. The women delayed pregnancy an average of 6.5 years after their injury, with an average age at first pregnancy of 26.8 years. Cesarean section was necessary in 4 patients because of inadequate progress of labor. In 5 deliveries an episiotomy and local anesthesia were required, 7 required epidural anesthesia, including all cesarean sections, and 10 did not require anesthesia. Several complications have been identified in the antepartum, intrapartum, and postpartum periods including autonomic hyperreflexia, premature labor, pressure sores, urinary tract infections, abnormal presentation, and failure to progress. Ultrasonography and amniocentesis were used selectively. Women with spinal cord injuries can have healthy children, although there are significant risks and these women have special needs.

Cross, L. L.; Meythaler, J. M.; Tuel, S. M.; Cross, A. L.

1991-01-01

386

2S Hyperfine splitting of muonic hydrogen  

SciTech Connect

Corrections of orders {alpha}{sup 5} and {alpha}{sup 6} are calculated in the hyperfine splitting of the 2S state in the muonic hydrogen. The nuclear structure effects are taken into account in the one- and two-loop Feynman amplitudes by means of the proton electromagnetic form factors. The total numerical value of the 2S state hyperfine splitting in the muonic hydrogen is 22.8148 meV. This value can be considered as a reliable estimate in conducting a corresponding experiment with an accuracy 10{sup -5}. The value of the Sternheim hyperfine splitting interval [8{delta}E{sup HFS}(2S)-{delta}E{sup HFS}(1S)] is obtained with an accuracy 10{sup -6}.

Martynenko, A.P. [Theoretical Physics Department, Samara State University, Pavlov Street 1, 443011 Samara (Russian Federation)

2005-02-01

387

Indentation and splitting of freshwater ice floes  

SciTech Connect

Small-scale indentation and floe-splitting experiments were conducted on columnar ice floes of various sizes and at different speeds. During low-speed indentation (0.2--8 mm s{sup {minus}1}), the ice floes always split apart, while at higher indentation speeds (> 100 mm s{sup {minus}1}) they did not. The reason is attributed to differences in the process of deformation and failure. At low speed, a large zone of microcracked ice forms in front of the indentor. Development of compressive stresses in the microcracked ice zone leads to buildup of transverse forces that drive crack propagation. These zones of microcracked ice are not observed during high-speed indentation. Rather, the ice fails by continuous crushing. The theoretical effective pressure required to split an ice floe, as predicted by Bhat (1988), agrees to some extent with those measured during experiments.

Sodhi, D.S. [Army Cold Regions Research and Engineering Lab., Hanover, NH (United States); Chin, S.N. [National Research Council of Canada, St. John`s, Newfoundland (Canada). Inst. for Marine Dynamics

1995-02-01

388

Optimizing phylogenetic networks for circular split systems.  

PubMed

We address the problem of realizing a given distance matrix by a planar phylogenetic network with a minimum number of faces. With the help of the popular software SplitsTree4, we start by approximating the distance matrix with a distance metric that is a linear combination of circular splits. The main results of this paper are the necessary and sufficient conditions for the existence of a network with a single face. We show how such a network can be constructed, and we present a heuristic for constructing a network with few faces using the first algorithm as the base case. Experimental results on biological data show that this heuristic algorithm can produce phylogenetic networks with far fewer faces than the ones computed by SplitsTree4, without affecting the approximation of the distance matrix. PMID:21788677

Phipps, Paul; Bereg, Sergey

2011-07-20

389

A Split Sprint mission to Mars  

NASA Astrophysics Data System (ADS)

Comprehensive infrastructure analysis is central to developing architectures necessary to support the Space Exploration Initiative. In the ``Split Sprint'' architecture, the cargo is split from the crew. An efficient low thrust ``slow boat'' is used for the cargo and a high thrust ``sprint'' vehicle is used for the crew. Infrastructure analysis is utilized in developing initial element designs to meet the transportation system requirements of the slit sprint architecture. Infrastructure analysis considers technology availability, launch vehicle volume and lift requirements, on orbit assembly, trajectory design and optimization, system reduncancy requirements and evolutionary capability. The resulting infrastructure includes propulsion system options for the crew and cargo space transfer vehicles. For the cargo, an SP-100 derived nuclear electric propulsion system was developed. For the crew, either a conventional cryogenic (LO2/LH2) propulsion system or nuclear thermal propulsion system is utilized. It is shown that the split sprint mission competes effectively with conventional approaches to the Mars mission.

Shepard, Kyle; Duffey, Jack; D'Annible, Dom; Holdridge, Jeff; Thompson, Walter; Armstrong, Robert C.

1992-01-01

390

Spinal Cord Injury Medicine. 4. Community Reintegration After Spinal Cord Injury  

Microsoft Academic Search

Scelza WM, Kirshblum SC, Wuermser LA, Ho CH, Priebe MM, Chiodo AE. Spinal cord injury medicine. 4. Community reintegration after spinal cord injury.This self-directed learning module highlights community reintegration after spinal cord injury (SCI). It is part of the study guide on spinal cord injury medicine in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and

William M. Scelza; Steven C. Kirshblum; Lisa-Ann Wuermser; Chester H. Ho; Michael M. Priebe; Anthony E. Chiodo

2007-01-01

391

The association of hypopituitarism with small pituitary, invisible pituitary stalk, type 1 Arnold-Chiari malformation, and syringomyelia in seven patients born in breech position: a further proof of birth injury theory on the pathogenesis of "idiopathic hypopituitarism".  

PubMed

We report seven cases of hypopituitarism all having a history of breech delivery, asphyxia at birth, and syringomyelia. A small pituitary gland was found on MRI or CT in six cases, invisible pituitary stalk on MRI in five cases, and type 1 Arnold-Chiari malformation in six cases. A constellation of these abnormalities are best explained by traction of brain and spinal cord of the subjects exerted during breech delivery and further support the primary role of birth trauma in the genesis of "idiopathic hypopituitarism". PMID:1499578

Fujita, K; Matsuo, N; Mori, O; Koda, N; Mukai, E; Okabe, Y; Shirakawa, N; Tamai, S; Itagane, Y; Hibi, I

1992-04-01

392

Reflection hologram solar spectrum-splitting filters  

NASA Astrophysics Data System (ADS)

In this paper we investigate the use of holographic filters in solar spectrum splitting applications. Photovoltaic (PV) systems utilizing spectrum splitting have higher theoretical conversion efficiency than single bandgap cell modules. Dichroic band-rejection filters have been used for spectrum splitting applications with some success however these filters are limited to spectral control at fixed reflection angles. Reflection holographic filters are fabricated by recording interference pattern of two coherent beams at arbitrary construction angles. This feature can be used to control the angles over which spectral selectivity is obtained. In addition focusing wavefronts can also be used to increase functionality in the filter. Holograms fabricated in dichromated gelatin (DCG) have the benefit of light weight, low scattering and absorption losses. In addition, reflection holograms recorded in the Lippmann configuration have been shown to produce strong chirping as a result of wet processing. Chirping broadens the filter rejection bandwidth both spectrally and angularly. It can be tuned to achieve spectral bandwidth suitable for spectrum splitting applications. We explore different DCG film fabrication and processing parameters to improve the optical performance of the filter. The diffraction efficiency bandwidth and scattering losses are optimized by changing the exposure energy, isopropanol dehydration bath temperature and hardening bath duration. A holographic spectrum-splitting PV module is proposed with Gallium Arsenide (GaAs) and silicon (Si) PV cells with efficiency of 25.1% and 19.7% respectively. The calculated conversion efficiency with a prototype hologram is 27.94% which is 93.94% compared to the ideal spectrum-splitting efficiency of 29.74%.

Zhang, Deming; Gordon, Michael; Russo, Juan M.; Vorndran, Shelby; Escarra, Matthew; Atwater, Harry; Kostuk, Raymond K.

393

Torsion of the spermatic cord after orchiopexy.  

PubMed

The cases of spermatic cord torsion reported here show that this condition may occur even some time after fixation. Three men, aged 22, 30 and 35 years, visited the urologist with complaints of an acute scrotum following earlier orchiopexy for spermatic cord torsion. Different techniques are employed to fixate the testicles after spermatic cord torsion. These cases confirm that Jaboulay's bottleneck procedure is the method of choice for bilateral fixation in patients presenting with this condition. PMID:18947666

de Vylder, A M A; Breeuwsma, A J; van Driel, M F; Fonteyne, E; Nijman, J M

2005-11-23

394

CFU-F circulating in cord blood  

Microsoft Academic Search

CFU-F (colony forming units-fibroblast) were studied from cord blood and, as controls, from normal bone marrow of older children and adults. Numbers of CFU-F in cord blood buffy coat cells are lower by a factor of 10 in comparison to bone marrow CFU-F. Cytomorphology and staining with monoclonal antibody identify the progeny cells of CFU-F as fibroblasts. Cord blood CFU-F

G. Prindull; Z. Ben-Ishay; W. Ebell; M. Bergholz; T. Dirk; B. Prindull I

1987-01-01

395

Cord blood stem cell banking and transplantation  

Microsoft Academic Search

Stem cells have the ability to divide for indefinite periods in culture and to give rise to specialized cells. Cord blood\\u000a as a source of hematopoietic stem cells (HSC) has several advantages as it is easily available, involves non-invasive collection\\u000a procedure and is better tolerated across the HLA barrier. Since the first cord blood transplant in 1988, over 2500 cord

P. S. Dhot; V. Nair; D. Swarup; D. Sirohi; P. Ganguli

2003-01-01

396

Fermion localization on a split brane  

NASA Astrophysics Data System (ADS)

In this work we analyze the localization of fermions on a brane embedded in five-dimensional, warped and nonwarped, space-time. In both cases we use the same nonlinear theoretical model with a nonpolynomial potential featuring a self-interacting scalar field whose minimum energy solution is a soliton (a kink) which can be continuously deformed into a two-kink. Thus a single brane splits into two branes. The behavior of spin 1/2 fermions wave functions on the split brane depends on the coupling of fermions to the scalar field and on the geometry of the space-time.

Chumbes, A. E. R.; Vasquez, A. E. O.; Hott, M. B.

2011-05-01

397

Therapeutic approaches for spinal cord injury  

PubMed Central

This study reviews the literature concerning possible therapeutic approaches for spinal cord injury. Spinal cord injury is a disabling and irreversible condition that has high economic and social costs. There are both primary and secondary mechanisms of damage to the spinal cord. The primary lesion is the mechanical injury itself. The secondary lesion results from one or more biochemical and cellular processes that are triggered by the primary lesion. The frustration of health professionals in treating a severe spinal cord injury was described in 1700 BC in an Egyptian surgical papyrus that was translated by Edwin Smith; the papyrus reported spinal fractures as a “disease that should not be treated.” Over the last two decades, several studies have been performed to obtain more effective treatments for spinal cord injury. Most of these studies approach a patient with acute spinal cord injury in one of four manners: corrective surgery or a physical, biological or pharmacological treatment method. Science is unraveling the mechanisms of cell protection and neuroregeneration, but clinically, we only provide supportive care for patients with spinal cord injuries. By combining these treatments, researchers attempt to enhance the functional recovery of patients with spinal cord injuries. Advances in the last decade have allowed us to encourage the development of experimental studies in the field of spinal cord regeneration. The combination of several therapeutic strategies should, at minimum, allow for partial functional recoveries for these patients, which could improve their quality of life.

Cristante, Alexandre Fogaca; de Barros Filho, Tarcisio Eloy Pessoa; Marcon, Raphael Martus; Letaif, Olavo Biraghi; da Rocha, Ivan Dias

2012-01-01

398

FDA Public Health Notification: Vista Cord, LLC  

Center for Biologics Evaluation and Research (CBER)

... Safety & Availability (Biologics). Tissue Safety & Availability. -. FDA Public Health Notification: Vista Cord, LLC. Date: September 25, 2009. ... More results from www.fda.gov/biologicsbloodvaccines/safetyavailability/tissuesafety

399

Simultaneous very thick split-thickness and split-thickness skin grafting for treating burned limbs.  

PubMed

To achieve the goals of burn wound coverage and prevention of burn scar contracture, the author applied very thick split-thickness (to mobile surfaces) and ordinary split-thickness (to nonmobile surfaces) skin grafting to burned wounds simultaneously. Using a Padgett dermatome to harvest very thick split-thickness skin (0.024-0.026 in) is a simple and time-saving procedure. The initial results were good and patients had a better outcome and shorter home stay before resuming work. PMID:20647934

Tang, Yu-Wen

400

Dynamic stark splitting in a Morse oscillator  

Microsoft Academic Search

We have show that in the spirit of the Jaynes-Cummings model a Morse oscillator interacting with a single mode electromagnetic field can be solved within the rotating wave approximation. The model exhibits dynamic Stark splitting which is reminiscent of Rabi doublets in two-level atoms and Autler-Townes doublets in three-level systems.

Deb Shankar Ray

1987-01-01

401

Flux vector splitting in general curvilinear coordinates  

Microsoft Academic Search

Two dimensional Euler equations were solved using the flux vector splitting method. The discretization is made in a finite volume form. The resulting equations are solved with an approximately factored implicit scheme. Two different boundary procedures were utilized. In the first approach, the characteristic variables are used to determine the state at the boundary. In the second approach, the boundary

Timo Siikonen

1988-01-01

402

Flux vector splitting and approximate Newton methods  

Microsoft Academic Search

In the present investigation, the basic approach is employed to view an iterative scheme as Newton's method or as a modified Newton's method. Attention is given to various modified Newton methods which can arise from differencing schemes for the Euler equations. Flux vector splitting is considered as the basic spatial differencing technique. This technique is based on the partition of

D. C. Jespersen; T. H. Pulliam

1983-01-01

403

Studies on thermochemical water-splitting cycles  

Microsoft Academic Search

Thermochemical water-splitting cycles that use solid metal sulfates instead of sulfuric acid appear to offer the advantage of allowing the electrolytic oxidation of sulfurous acid to take place in relatively dilute solutions where anodic overpotential is expected to be minimized. The Institute of Gas Technology is investigating such systems in order to define preferred operating conditions and performance for the

R. J. Remick; S. E. Foh

1979-01-01

404

Splitting fields for $E_{8}$ -torsors  

Microsoft Academic Search

We show that every algebraic group of type $E_{8}$ over any field\\u000abecomes split over some field extension of degree dividing\\u000a$2^{6}\\\\cdot 3^{2}\\\\cdot 5=2880$ . This improves a bound by Tits and,\\u000ain fact, is optimal.

Burt Totaro

2004-01-01

405

Isospin Splittings of Doubly Heavy Baryons  

SciTech Connect

The SELEX Collaboration has reported a very large isospin splitting of doubly charmed baryons. We show that this effect would imply that the doubly charmed baryons are very compact. One intriguing possibility is that such baryons have a linear geometry Q-q-Q where the light quark q oscillates between the two heavy quarks Q, analogous to a linear molecule such as carbon dioxide. However, using conventional arguments, the size of a heavy-light hadron is expected to be around 0.5 fm, much larger than the size needed to explain the observed large isospin splitting. Assuming the distance between two heavy quarks is much smaller than that between the light quark and a heavy one, the doubly heavy baryons are related to the heavy mesons via heavy quark-diquark symmetry. Based on this symmetry, we predict the isospin splittings for doubly heavy baryons including {Xi}{sub cc}, {Xi}{sub bb} and {Xi}{sub bc}. The prediction for the {Xi}{sub cc} is much smaller than the SELEX value. On the other hand, the {Xi}{sub bb} baryons are predicted to have an isospin splitting as large as (6.3 {+-} 1.7) MeV. An experimental study of doubly bottomed baryons is therefore very important to better understand the structure of baryons with heavy quarks.

Brodsky, Stanley J.; /SLAC; Guo, Feng-Kun; /Bonn U., HISKP /Bonn U.; Hanhart, Christoph; /Julich, Forschungszentrum /JCHP, Julich /IAS, Julich; Meissner, Ulf-G.; /Julich, Forschungszentrum /JCHP, Julich /IAS, Julich /Bonn U., HISKP /Bonn U.

2011-08-18

406

Split pin replacement at Surry Unit 1  

Microsoft Academic Search

During the past seven years of operating experience with the Westinghouse nuclear steam supply system, failures of the control rod guide tube (CRGT) support pins on the lower flange have been encountered. These support pins, commonly referred to as split pins, orient and hold the CRGT in proper alignment with the upper end fitting of the fuel assembly. The failures

J. E. Galford; T. E. Sliva; J. W. Mitchem

1985-01-01

407

STRANG SPLITTING FOR THE TIME DEPENDENT SCHR  

Microsoft Academic Search

The time-dependent Schrodinger equation is discretized in space by a sparse grid pseudo-spectral method. The Strang splitting for the resulting evolutionary problem features first or second order convergence in time, depending on the smoothness of the potential and of the initial data. In contrast to the full grid case, where the frequency domain is the working place, the proof of

V. GRADINARU

408

Conservation properties of vectorial operator splitting  

Microsoft Academic Search

This work is concerned with the conservation properties of a new vectorial operator splitting scheme for solving the incompressible Navier-Stokes equations. It is proven that the difference approximation of the advection operator conserves square of velocity components and the kinetic energy as the differential operator does, while pressure term conserves only the kinetic energy. Some analytical requirements necessary to be

R.S. Marinova; Tadayasu Takahashi; Hideaki Aiso; Christo I. Christov; Tchavdar T. Marinov

2003-01-01

409

Nuclear vector polarizability correction to hyperfine splitting  

SciTech Connect

The interaction of orbital electrons with the charge and magnetic moment of the nucleus polarizes it, and the detailed description requires a careful treatment of the nuclear vector polarizability. We present a complete and closed-form expression for the resulting contribution to hyperfine splitting in light atomic systems.

Pachucki, Krzysztof [Institute of Theoretical Physics, University of Warsaw, Hoza 69, 00-681 Warsaw (Poland)

2007-08-15

410

Shear Wave Splitting Beneath the Galapagos Archipelago  

Microsoft Academic Search

We report measurements of teleseismic shear wave splitting in the Galápagos Archipelago. The inferred lateral variations in azimuthal anisotropy allow us to examine the dynamics of an evolving hotspot-ridge system. The data are from SKS and SKKS phases, as well as S waves from deep sources, recorded by a relatively dense network of 10 portable broadband seismometers deployed from 1999

F. R. Fontaine; P. G. Burkett; E. E. Hooft; D. R. Toomey; S. C. Solomon; P. G. Silver

2004-01-01

411

Temporal discrimination in the split brain  

Microsoft Academic Search

Divided visual field studies of neurologically normal adults indicate that the left hemisphere is superior to the right in making temporal judgments. Some neuroimaging and neuropsychological studies, however, have suggested a role for the right hemisphere in temporal processing. We tested the divided hemispheres of a split-brain patient in two tasks requiring temporal judgments about visually presented stimuli. In one

Margaret G. Funnell; Paul M. Corballis; Michael S. Gazzaniga

2003-01-01

412

Isospin splittings of doubly heavy baryons  

NASA Astrophysics Data System (ADS)

The SELEX Collaboration has reported a very large isospin splitting of doubly charmed baryons. We show that this effect would imply that the doubly charmed baryons are very compact. One intriguing possibility is that such baryons have a linear geometry Q-q-Q where the light quark q oscillates between the two heavy quarks Q, analogous to a linear molecule such as carbon dioxide. However, using conventional arguments, the size of a heavy-light hadron is expected to be around 0.5 fm, much larger than the size needed to explain the observed large isospin splitting. Assuming the distance between two heavy quarks is much smaller than that between the light quark and a heavy one, the doubly heavy baryons are related to the heavy mesons via heavy quark-diquark symmetry. Based on this symmetry, we predict the isospin splittings for doubly heavy baryons including ?, ? and ?. The prediction for the ? is much smaller than the SELEX value. On the other hand, the ? baryons are predicted to have an isospin splitting as large as (6.3±1.7) MeV. An experimental study of doubly bottomed baryons is therefore very important to better understand the structure of baryons with heavy quarks.

Brodsky, Stanley J.; Guo, Feng-Kun; Hanhart, Christoph; Meißner, Ulf-G.

2011-04-01

413

Ovalbumin gene is split in chicken DNA  

Microsoft Academic Search

The ovalbumin gene is split in chicken DNA. Two interruptions in the sequences coding for ovalbumin mRNA have been detected, at least one of them lying in the protein coding sequence. The unexpected gene organisation is present both in oviduct cells highly specialised in ovalbumin synthesis and in erythrocytes.

R. Breathnach; J. L. Mandel; P. Chambon

1977-01-01

414

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

PubMed

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

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

2012-07-20

415

[Chiari type I malformation in a patient with Poland's syndrome].  

PubMed

Chiari malformation type I and Poland's syndrome are two rare diseases and their simultaneous presentation had not been previously described in the literature. We report the case of a 27 year old male with history of Poland's syndrome, who referred headache and motor impairment of the intrinsic muscles of the left hand. In a cervical spine MR a Chiari I malformation with syringomyelia from C1 to T2 was found, which was treated by foramen magnum decompression, dural plasty and removal of the posterior arch of the atlas. A discussion of the embryological mechanisms that might be involved in the coexistence of these two entities is presented, emphasizing the role of para-axial mesoderm. PMID:22167290

Apellido, Nombre; Alcalá-Cerra, G; Sabogal-Barrios, R; Niño-Hernández, L M; Gutiérrez-Paternina, J J; Moscote-Salazar, L R; Preciado-Mesa, E

2011-12-01

416

Arteriovenous malformation of the mandible and parotid gland  

PubMed Central

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.

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

2012-01-01

417

[Urinary tract malformations. Symptomatology, delayed diagnosis and urinary tract infections].  

PubMed

The authors examined 88 patients (32 Males and 56 Females) aged between 1 day and 13 years, suffering from urinary tract malformation, diagnosed during 1981-82 . The vesicoureteral reflux was the urinary tract malformation most frequently observed (56.81%). The patients showed symptoms of the illness within the first year of life in a percentage of 52%, while the 82% was symptomatic in 5 years. 30 months and 11 days was the average age at which the symptoms of the illness appeared, while the diagnosis was effected at an average of 47 months and 15 days. The authors pointed out the reasons of this diagnostic delay and the possibilities of filing it up. Urinary tract infection was found at the time of hospitalization in a percentage of 55%. The authors described the kind of germs isolated and their resistance to the most common antibiotics. PMID:3313295

Benigno, V; Attardo, S; Dolce, A F; Di Peri, S; Boncori, R; La Grutta, A

418

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

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

2011-01-01

419

Giant mesenteric lymphatic malformation presenting as small bowel volvulus  

PubMed Central

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

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

2013-01-01

420

Multiple disseminated glomuvenous malformations: do we know enough?  

PubMed

Multiple glomuvenous malformations (GVMs), also known as glomangiomas, are uncommon entities with histological features of both glomus cells proliferation and venous malformation. A 14-year-old boy was admitted to our clinic with multiple dermal blue nodules, disseminated in different segments of the body. The patient's family history was positive for similar lesions; his mother and maternal grandmother had some asymptomatic blue nodules on their body. Histological examination showed a tumor composed of multiple caveronous vessels surrounded by glomus cells, positive for alpha smooth muscle actin, HHF35 (pan-actin), and h-caldesmon. This is a case of multiple GVMs, a rare disease caused by mutations in glomulin gene, with an autosomal dominant pattern of inheritance. The clinical and histopathological features are briefly discussed. PMID:23303036

Solovan, C; Chiticariu, Elena; Beinsan, Doina; Zurac, Sabina; Baderca, Flavia

2012-01-01

421

Urorectal septum malformation sequence in a newborn with VACTERL association.  

PubMed

Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

Patra, Soumya; Purkait, Radheshyam

2012-02-01

422

Novel Image-Guided Management of a Uterine Arteriovenous Malformation  

SciTech Connect

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

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

2011-02-15

423

Venous thoracic outlet syndrome caused by a congenital rib malformation  

PubMed Central

Summary Venous thoracic outlet syndrome (VTOS) represents a rare disorder. Hypertrophy of the anterior scalene musculature is the cause of the compression syndrome in most cases. To our knowledge, we describe the first reported case worldwide of a venous compression syndrome caused by a congenital malformation of the 1st and 2nd ribs. Treatment by transaxillary partial rib resection was necessary and a very good postoperative result was achieved.

Kirschbaum, Andreas; Palade, Emanuel; Csatari, Zoltan; Passlick, Bernward

2012-01-01

424

Spinal vascular malformations in non-perimesencephalic subarachnoid hemorrhage  

Microsoft Academic Search

Objective\\u000a   In patients with non-traumatic subarachnoid hemorrhage (SAH) and no evidence for a cerebral aneurysm on angiography, a frequent\\u000a cause of the hemorrhage is perimesencephalic hemorrhage or other cerebral vascular pathology. In some patients no cause is\\u000a found. The exact incidence of a spinal vascular malformation (SVM) as the origin for the SAH is not known. We assessed the\\u000a occurrence

M. R. Germans; F. A. Pennings; M. E. S. Sprengers; W. P. Vandertop

2008-01-01

425

Gated magnetic resonance imaging of congenital cardiac malformations  

SciTech Connect

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.

Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

1984-01-01

426

A randomized trial of unruptured brain arteriovenous malformations (ARUBA).  

PubMed

Despite almost a century of efforts in the treatment of brain arteriovenous malformations (BAVMs) no clinical trial has yet been performed to demonstrate the benefits of intervention versus conservative (medical) management for those not yet bled. Only insufficient information on the natural history of unbled BAVMs exists to certify that intervention is needed and that such intervention produces a better long-term functional outcome. PMID:18496936

Mohr, J P

2008-01-01

427

Clival dysgenesis associated with Chiari Type 1 malformation and syringomyelia.  

PubMed

We report an 11-year-old boy with dysgenesis of the clivus. The boy presented complaining of progressive difficulty in walking. The clival anomaly was associated with severe basilar invagination, Chiari Type 1 malformation and syringomyelia. Our literature search did not reveal any previous reports of this combination of conditions. The patient obtained relief from his symptoms following a foramen magnum decompression. PMID:20074957

Shah, Abhidha; Goel, Atul

2010-01-13

428

Pierre-Robin syndrome associated with Chiari type I malformation  

Microsoft Academic Search

Case reportPierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the

Jangbo Lee; Kazutoshi Hida; Toshitaka Seki; Jun Kitamura; Yosinobu Iwasaki

2003-01-01

429

Limits of the Transoral Approach in Craniospinal Malformations  

PubMed Central

Over a 15-year period, 15 patients with craniospinal malformations were operated on using the transoral route. Ten patients had basilar impression and five had atlantoaxial dislocation; nine patients had associated lesions. Patients treated with reposition and dorsal fusion recovered well without ventral decompression. We found that transoral odontoidectomy is suitable as a primary decompressing measure only in ventral compression or nondislocated atlantoaxial conditions. ImagesFigure 1p8-b

Laborde, G.; Gilsbach, J.; Bertalanffy, H.; Harders, A.; Hardenack, M.

1992-01-01

430

Long-term outcome of anorectal malformations: the patient perspective  

Microsoft Academic Search

To assess the long-term outcome of surgery for anorectal malformations (ARM) from the patient’s perspective. One hundred and\\u000a sixty seven children were operated for ARM between 1982 and 2000. Disease impact questionnaires to assess both clinical and\\u000a psychological outcomes were sent to 137 eligible families. Statistical analysis was performed using SPSS version 11.5. The\\u000a response rate was 61% (n = 84). Sixty

C. H. Hamid; A. J. A. Holland; H. C. O. Martin

2007-01-01

431

Congenital malformations and genetic diseases in Iranian infants.  

PubMed

Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, cleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with other populations, whereas the rates of multiple births and limb anomalies were lower. PMID:3793101

Farhud, D D; Walizadeh, G R; Kamali, M S

1986-12-01

432

Parenting children with anorectal malformations: implications and experiences  

Microsoft Academic Search

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

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

1998-01-01

433

Bowel management for fecal incontinence in patients with anorectal malformations  

Microsoft Academic Search

Background\\/Purpose: Fecal incontinence is common in patients operated on for anorectal malformations. Treatment with enemas, laxatives, and medications are often given by clinicians in an indiscriminate manner and without a demonstrated benefit. A systematic diagnostic approach and bowel management program was developed for patients suffering from fecal incontinence, and a retrospective analysis of the results is presented.Methods: Three hundred forty-eight

A Peña; K Guardino; J. M Tovilla; M. A Levitt; G Rodriguez; R Torres

1998-01-01

434

Risk of Endovascular Treatment of Brain Arteriovenous Malformations  

Microsoft Academic Search

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

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

2002-01-01

435

MR Digital Subtraction Angiography of Cerebral Arteriovenous Malformations  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Although phase-contrast MR angiography provides some information regarding hemodynamics of cerebral arteriovenous malformations (AVMs), most conventional MR angiographic techniques have not been helpful in this respect. We attempted to determine the value of MR digital subtraction angiography (DSA) in assessing AVM hemodynamics. METHODS: We developed an MR DSA technique by combining rapid thick-section T1- weighted imaging with

Kazuhiro Tsuchiya; Shichiro Katase; Ayako Yoshino; Junichi Hachiya

436

Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities  

Microsoft Academic Search

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

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

1993-01-01

437

Embryology and bony malformations of the craniovertebral junction  

Microsoft Academic Search

Background  The embryology of the bony craniovertebral junction (CVJ) is reviewed with the purpose of explaining the genesis and unusual\\u000a configurations of the numerous congenital malformations in this region. Functionally, the bony CVJ can be divided into a central\\u000a pillar consisting of the basiocciput and dental pivot and a two-tiered ring revolving round the central pivot, comprising\\u000a the foramen magnum rim

Dachling Pang; Dominic N. P. Thompson

2011-01-01

438

SEXUAL RESPONSES IN THE HUMAN SPINAL CORD  

Microsoft Academic Search

Abstract Altered sexual function is one of the most devastating consequences,of spinal cord trauma (SCT). Despite this fact, current knowledge of the neural circuitry regulating sexual response in the spinal cord (SC) in healthy humans,is remarkably incomplete. In order to better understand the changes that occur to sexual responses following SCT, we must elucidate the neural transmission of sexual function

Natalie Kozyrev

2009-01-01

439

Cardiovascular Control After Spinal Cord Injury  

Microsoft Academic Search

Spinal cord injury (SCI) leads to profound haemodynamic changes. Constant outflows from the central autonomic pattern generators modulate the activity of the spinal sympathetic neurons. Sudden loss of communication between these centers and the sympathetic neurons in the intermediolateral thoracic and lumbar spinal cord leads to spinal shock. After high SCI, experimental data demonstrated a brief hypertensive peak followed by

F. A. A. Gondim; A. C. A. Lopes Jr.; G. R. Oliveira; C. L. Rodrigues; P. R. L. Leal; A. A. Santos; F. H. Rola

2004-01-01

440

Depression Following a Spinal Cord Injury  

Microsoft Academic Search

Elliott TR, Frank RG. Depression following spinal cord injury. Arch Phys Med Rehabil 1996;77:816-23. Although depression has been widely studied among persons with spinal cord injury, the ubiquitous and unsophisticated use of the term and presumtions about its manifestations in the rehabilitation setting have needlessly encumbered the under- standing and treatment of depression. Major themes and issues in the study,

Robert G. Frank

1996-01-01

441

Family-directed umbilical cord blood banking  

PubMed Central

Umbilical cord blood transplantation from HLA-identical siblings provides good results in children. These results support targeted efforts to bank family cord blood units that can be used for a sibling diagnosed with a disease which can be cured by allogeneic hematopoietic stem cell transplantation or for research that investigates the use of allogeneic or autologous cord blood cells. Over 500 patients transplanted with related cord blood units have been reported to the Eurocord registry with a 4-year overall survival of 91% for patients with non-malignant diseases and 56% for patients with malignant diseases. Main hematologic indications in children are leukemia, hemoglobinopathies or inherited hematologic, immunological or metabolic disorders. However, family-directed cord blood banking is not widely promoted; many cord blood units used in sibling transplantation have been obtained from private banks that do not meet the necessary criteria required to store these units. Marketing by private banks who predominantly store autologous cord blood units has created public confusion. There are very few current validated indications for autologous storage but some new indications might appear in the future. Little effort is devoted to provide unbiased information and to educate the public as to the distinction between the different types of banking, economic models and standards involved in such programs. In order to provide a better service for families in need, directed-family cord blood banking activities should be encouraged and closely monitored with common standards, and better information on current and future indications should be made available.

Gluckman, Eliane; Ruggeri, Annalisa; Rocha, Vanderson; Baudoux, Etienne; Boo, Michael; Kurtzberg, Joanne; Welte, Kathy; Navarrete, Cristina; van Walraven, Suzanna M.

2011-01-01

442

Spinal Cord Ring Enhancement in Multiple Sclerosis  

PubMed Central

Objective Describe the clinical and imaging characteristics of spinal cord ring enhancement in multiple sclerosis (MS). Design Clinical case series. Setting Academic referral center. Patients Twenty MS subjects with spinal cord ring enhancement were retrospectively identified from 322 cervical and thoracic spinal cord MRI studies over a 3 year period. Main Outcome Measures Demographics, disability, pattern of enhancement on spinal cord imaging, and concomitant brain magnetic resonance imaging (MRI) were determined. Results Ring enhancement was seen in 20 subjects with spinal cord enhancement, most commonly in the cervical cord. Incomplete or ‘open’ ring enhancement was the dominant pattern in 19 of 20 (95%) subjects. Concurrent ring enhancing brain lesions were present in 40% of subjects. At the time of the MRI, the Expanded Disability Status Scale (EDSS) ranged from 1.0–7.0 (median 3.0). Conclusion Ring enhancement is not an uncommon pattern for MS spinal cord lesions, occurring with a prevalence of 6.2% (20/322). The most common pattern was incomplete ring enhancement in the cervical spinal cord. Recognition of this pattern may improve and expedite the diagnosis of MS and preclude need for invasive diagnostic interventions.

Klawiter, Eric C; Benzinger, Tammie; Roy, Abhik; Naismith, Robert T; Parks, Becky J; Cross, Anne H

2010-01-01

443

Neural Plasticity After Spinal Cord Injury  

Microsoft Academic Search

Spinal cord injury (SCI) has devastating physical and socioeconomical impact. However, some degree of functional recovery is frequently observed in patients after SCI. There is considerable evidence that functional plasticity occurs in cerebral cortical maps of the body, which may account for functional recovery after injury. Additionally, these plasticity changes also occur at multiple levels including the brainstem, spinal cord,

Yuemin Ding; Abba J. Kastin; Weihong Pan

2005-01-01

444

Regenerative treatment in spinal cord injury.  

PubMed

Spinal cord injury is a devastating, traumatic event, and experienced mainly among young people. Until the modern era, spinal cord injury was so rapidly fatal that no seriously injured persons would survive long enough for regeneration to occur. Treatment of spinal cord injury can be summarized as follows: prevent further cord injury, maintain blood flow, relieve spinal cord compression, and provide secure vertebral stabilization so as to allow mobilization and rehabilitation, none of which achieves functional recovery. Previous studies have focused on analyzing the pathogenesis of secondary injury that extends from the injury epicenter to the periphery, as well as the tissue damage and neural cell death associated with secondary injury. Now, there are hundreds of current experimental and clinical regenerative treatment studies. One of the most popular treatment method is cell transplantation in injured spinal cord. For this purpose bone marrow stromal cells, mononuclear stem cells, mesenchymal stem cells, embryonic stem cells, neural stem cells, and olfactory ensheathing cells can be used. As a result, cell transplantation has become a promising therapeutic option for spinal cord injury patients. In this paper we discuss the effectiveness of stem cell therapy in spinal cord injury. PMID:22849699

Ozdemir, Mevci; Attar, Ayhan; Kuzu, Isinsu

2012-09-01

445

Umbilical cord blood transplant in human.  

PubMed

Human cord and placental blood provides a rich source of hematopoietic stem cells. On the basis of this finding, umbilical cord blood stem cells have been used to reconstitute hematopoiesis in children with malignant and non malignant diseases after treatment with myeloablative doses of chemoradiotherapy. Early results show, that a single cord blood provides enough hematopoietic stem cells to provide short and long term engraftment and, that the incidence and severity of graft versus host disease has been low even in HLA mismatched transplants. This results are encouraging enough, to embark on large scale banking of cord blood for purposes of future allogeneic and autologous stem cell transplantation, to promote studies on the unique properties of fetal and neonatal hematopoiesis, to study the immunological properties of cord blood cells and, to initiate investigations on gene transfer into human cord blood cells for future gene therapy trials. This review will briefly summarize the current knowledge on cord blood transplantation as well as the future development of research on this unique source of hematopoietic stem cells. Clinical results of cord blood transplantation. PMID:8932823

Gluckman, E

1996-11-01

446

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.  

PubMed

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

Siebel, S; Solomon, B D

2013-02-01

447

Cerebral cavernous malformations: from genes to proteins to disease.  

PubMed

Over the past half century molecular biology has led to great advances in our understanding of angio- and vasculogenesis and in the treatment of malformations resulting from these processes gone awry. Given their sporadic and familial distribution, their developmental and pathological link to capillary telangiectasias, and their observed chromosomal abnormalities, cerebral cavernous malformations (CCMs) are regarded as akin to cancerous growths. Although the exact pathological mechanisms involved in the formation of CCMs are still not well understood, the identification of 3 genetic loci has begun to shed light on key developmental pathways involved in CCM pathogenesis. Cavernous malformations can occur sporadically or in an autosomal dominant fashion. Familial forms of CCMs have been attributed to mutations at 3 different loci implicated in regulating important processes such as proliferation and differentiation of angiogenic precursors and members of the apoptotic machinery. These processes are important for the generation, maintenance, and pruning of every vessel in the body. In this review the authors highlight the latest discoveries pertaining to the molecular genetics of CCMs, highlighting potential new therapeutic targets for the treatment of these lesions. PMID:21962164

Cavalcanti, Daniel D; Kalani, M Yashar S; Martirosyan, Nikolay L; Eales, Justin; Spetzler, Robert F; Preul, Mark C

2011-09-30

448

The incidence of congenital malformations in children with cancer.  

PubMed

We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country. PMID:20112599

Mutafo?lu-Uysal, Kamer; Günes, Dilek; Tüfekçi, Ozlem; Kalelihan-Cankal, Aydan; Sarialio?lu, Faik; Olgun, Nur

449

Malformations associated with congenital absence of the gall bladder.  

PubMed Central

Thirty-four cases (29 children and five adults) of congenital absence of the gall bladder were found in a retrospective necropsy study. When the distribution of associated malformations in these patients was analysed, the cases were found to fall into several groups. The largest group (13) had multiple anomalies involving the genitourinary (83% reproductive tract, 42% renal), gastrointestinal (46% imperforate anus, 23% tracheo-oesophageal fistula), cardiovascular (54% cardiac defects, 23% single umbilical artery), and skeletal (31%) systems. Eight other patients had predominantly cardiac anomalies in addition to the agenesis of the gall bladder. Five had abnormalities associated with defects of the anterior abdominal wall. There were no additional malformations in the remaining cases. Family history was negative in all, suggesting a sporadic occurrence. Comparison with previously reported cases confirmed a similar distribution of anomalies. The hitherto unrecognised but consistent pattern of multiple malformations found with agenesis of the gall bladder may imply a non-random tendency for these defects to occur together.

Turkel, S B; Swanson, V; Chandrasoma, P

1983-01-01

450

[Continuing problems in patients who undergo repair for anorectal malformation].  

PubMed

As the number of long-term survivors after the repair of anorectal malformations increases, continuing problems affecting the quality of adult life are receiving greater attention in the field of pediatric surgery. Many studies concluded that completely normal defecation could not be achieved after surgical repair of high-type anomalies, even though function improved with age. Reports of the long-term outcomes of surgical procedures to restore anal sphincter function, such as gracilis muscle transplantation, remained limited. Urinary complications such as neurogenic bladder are frequently observed in adulthood among patients born with anorectal malformations. Urinary and fecal incontinence disrupt job performance and other social activities in most patients. In addition, a fairly high incidence of retrograde ejaculation and abnormal penile erection causing female infertility has been reported recently, although successful management of pregnancy and delivery was reported in selected cases. Interdisciplinary medical support is necessary to treat these problems in adulthood after the repair of anorectal malformations and should be established as a future goal. PMID:19663233

Kuroda, Tatsuo

2009-07-01

451

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations  

PubMed Central

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.

Siebel, S.; Solomon, B.D.

2013-01-01

452

Sonographic markers for early diagnosis of fetal malformations  

PubMed Central

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

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

453

History of the spinal cord localization.  

PubMed

The first reference to spinal cord injury is recorded in the Edwin Smith papyrus. Little was known of the function of the cord before Galen's experiments conducted in the second century AD. Galen described the protective coverings of the spinal cord: the bone, posterior longitudinal ligament, dura mater, and pia mater. He gave a detailed account of the gross anatomy of the spinal cord. During the medieval period (AD 700-1500) almost nothing of note was added to Galen's account of spinal cord structure. The first significant work on the spinal cord was that of Blasius in 1666. He was the first to differentiate the gray and white matter of the cord and demonstrated for the first time the origin of the anterior and posterior spinal nerve roots. The elucidation of the various tracts in the spinal cord actually began with demonstrations of pyramidal decussation by Mistichelli (1709) and Pourfoir du Petit (1710). Huber (1739) recorded the first detailed account of spinal roots and the denticulate ligaments. In 1809, Rolando described the substantia gelatinosa. The microtome, invented in 1824 by Stilling, proved to be one of the fundamental tools for the study of spinal cord anatomy. Stilling's technique involved slicing frozen or alcohol-hardened spinal cord into very thin sections and examining them unstained by using the naked eye or a microscope. With improvements in histological and experimental techniques, modern studies of spinal cord anatomy and function were initiated by Brown-Sequard. In 1846, he gave the first demonstration of the decussation of the sensory tracts. The location and direction of fiber tracts were uncovered by the experimental studies of Burdach (1826), Turck (1849), Clarke (1851), Lissauer (1855), Goll (1860), Flechsig (1876), and Gowers (1880). Bastian (1890) demonstrated that in complete transverse lesions of the spinal cord, reflexes below the level of the lesion are lost and muscle tone is abolished. Flatau (1894) observed the laminar nature of spinal pathways. The 20th century ushered in a new era in the evaluation of spinal cord function and localization; however, the total understanding of this remarkable organ remains elusive. Perhaps the next century will provide the answers to today's questions about spinal cord localization. PMID:15264793

Naderi, Sait; Türe, U?ur; Pait, T Glenn

2004-01-15

454

Foot placement variability as a walking balance mechanism post-spinal cord injury  

PubMed Central

Background Spinal cord injury affects walking balance control, which necessitates methods to quantify balance ability. The purposes of this study were to 1) examine walking balance through foot placement variability post-injury; 2) assess the relationship between measures of variability and clinical balance assessments; and 3) determine if spatial parameter variability might be used as a clinical correlate for more complex balance measurements. Methods Ten persons with spinal cord injury walked without devices on a split-belt treadmill at self-selected speeds. Ten healthy controls walked at 0.3 and 0.6 m/s for comparison. Variability of step width and length, anteroposterior and mediolateral foot placements relative to center-of-mass, and margin-of-stability were calculated. Clinical assessments included Berg Balance Scale and Dynamic Gait Index. Findings Participants with spinal cord injury demonstrated significantly different variability in all biomechanical measures compared to controls (P?0.007). Berg Balance Scale scores were significantly inversely associated with step length as well as anteroposterior and mediolateral foot placement variability (P?0.05). Dynamic Gait Index scores were significantly inversely associated with mediolateral foot placement variability (P?0.05). Participants with spinal cord injury showed significant correlations between spatial parameter variability and all other measures (P?0.005), except between step length and margin-of-stability (P=0.068); controls revealed fewer correlations. Interpretation Persons post-spinal cord injury exhibit an abnormal amount of stepping variability when challenged to walk without devices, yet preserve the ability to avoid falling. When complex laboratory measures of variability are unavailable clinically, spatial parameter variability or standardized balance assessments may be plausible indicators of walking balance control.

Day, Kristin V; Kautz, Steven A; Wu, Samuel S; Suter, Sarah P; Behrman, Andrea L

2011-01-01

455

Shear wave splitting survey of Western Tibet  

NASA Astrophysics Data System (ADS)

The goal of our study is to investigate the distribution of seismic anisotropy beneath the western part of the Tibetan plateau to better understand the tectonic processes dominating it. We used new data from 29 portable seismic stations in the Western Tibet that operated from 2007 to 2011. The network covered an approximately triangular area between the Karakorum fault (KF) in the south and the Banggong-Nujiang Suture (BNS) in the north, between longitudes of 79.5 and 83.5 east. In our study we used the data covering approximately two and a half years, from July 2007 to December 2009. Ten stations were operating from 2007, and additional 19 were introduced in 2009. We used earthquakes with magnitudes over 5.5, and picked and analyzed 130 well-recorded SKS phases. We employed three different algorithms of shear wave splitting estimation (cross-correlation, minimization of transverse component and an eigenvalue minimization technique) and used agreement in their respective results to assess the relative quality of our measurements. Observations that yielded radical disagreement in results from different algorithms were designated as NULLs. For a subset of NULLs we verified the absence of shear wave birefringence by visual inspection of particle motion. We report a set of 231 nulls and 310 splitting measurements, of which 128 we deem to be good (i.e., three techniques yield consistent results), and 182 are fair (two out of three methods agree). The delay time in good splitting observation varied from as little as 0.3s to 2.2s, with majority of measurements falling below 1 s. Fast polarizations display directional variability at individual observing sites, and also change laterally. We can identify four regions with distinct patterns of splitting. In the area between the KF and the BNS, fast direction of 40-65SE dominates, and most good splitting measurements yield delays ~1s. At most sites here we also see minor changes in fast direction with backazimuth. Two sites south of KF show significant scatter of fast directions, and delays ~0.5 s. Similarly, two sites north of BNS display smaller (~0.5s) delays, and fast directions ~90E. A group of sites along 82E longitude also exhibits small delays (~0.6s) but different fast directions (~130SE). Overall, we find that significant variation in splitting patterns correlates with tectonic divisions of the plateau. In addition, sites close to the Himalayas and north of the BNS likely document vertical variation of anisotropic properties, while the area between the KF and the BNS appears to be more homogeneous in seismic properties.

Shakhnovich, M.; Levin, V. L.; Cao, Z.

2011-12-01

456

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.  

PubMed

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all licence-phalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS (or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk. PMID:12185771

Guerrini, Renzo; Carrozzo, Romeo

2002-04-01

457

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.  

PubMed

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk. PMID:11749114

Guerrini, R; Carrozzo, R

2001-10-01

458

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

PubMed

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

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

2011-12-01

459

10 CFR 26.113 - Splitting the urine specimen.  

Code of Federal Regulations, 2013 CFR

...2013-01-01 false Splitting the urine specimen. 26.113 Section 26.113 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Collecting Specimens for Testing § 26.113 Splitting the urine specimen. (a) Licensees...

2013-01-01

460

26 CFR 1.7872-15 - Split-dollar loans.  

Code of Federal Regulations, 2011 CFR

...from, or is secured by, the policy's death benefit proceeds, the policy's cash...split-dollar term loans payable on the death of an individual, certain split-dollar...of accounting. (2 ) Exception for death, liquidation, or termination of the...

2011-04-01

461

Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases  

PubMed Central

Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication.

Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.

2013-01-01

462

New Linear Node Splitting Algorithm for R-trees  

Microsoft Academic Search

A new linear-time node splitting algorithm for R-trees is proposed. Compared with the node splitting algorithm that requires quadratic time and is used in most implementations of R-tree, it is more superior in terms of the time required to split a node, the distribution of data after splitting, as well as the area of overlapping. Most important of all, it

Chuan-heng Ang; T. C. Tan

1997-01-01

463

Persistent embryonic veins in arteriovenous malformations of the brain  

Microsoft Academic Search

Summary The course and direction of persistent foetal venous channels are easily defined in the relatively simple segmental portions of the nervous system, such as the spinal cord, the myelencephalon, the metencephalon, and the mesencephalon. In sites were embryonic development is more complicated, like the diencephalon and the telencephalon, rapid growth and folding of the cortex complicate the patterns of

C. Vidyasagar

1978-01-01

464

Tumors and Malformations of the Caudal Spinal Axis  

Microsoft Academic Search

The early development of the neural tube has been well studied in animals and humans. After axial determinants have been accomplished the processes of primary and secondary neurulation take place. Successful completion results in a spinal cord that has arisen from primary neurulation and a lower sacro-coccygeal portion from secondary neurulation. The latter region is the site of numerous skin-covered

Ronald J. Lemire; Thomas W. Pendergrass; J. Bruce Beckwith; Richard G. Ellenbogen

2003-01-01

465

Brain and Spinal Cord Interaction: Protective Effects of Exercise Prior to Spinal Cord Injury  

PubMed Central

We have investigated the effects of a spinal cord injury on the brain and spinal cord, and whether exercise provided before the injury could organize a protective reaction across the neuroaxis. Animals were exposed to 21 days of voluntary exercise, followed by a full spinal transection (T7–T9) and sacrificed two days later. Here we show that the effects of spinal cord injury go beyond the spinal cord itself and influence the molecular substrates of synaptic plasticity and learning in the brain. The injury reduced BDNF levels in the hippocampus in conjunction with the activated forms of p-synapsin I, p-CREB and p-CaMK II, while exercise prior to injury prevented these reductions. Similar effects of the injury were observed in the lumbar enlargement region of the spinal cord, where exercise prevented the reductions in BDNF, and p-CREB. Furthermore, the response of the hippocampus to the spinal lesion appeared to be coordinated to that of the spinal cord, as evidenced by corresponding injury-related changes in BDNF levels in the brain and spinal cord. These results provide an indication for the increased vulnerability of brain centers after spinal cord injury. These findings also imply that the level of chronic activity prior to a spinal cord injury could determine the level of sensory-motor and cognitive recovery following the injury. In particular, exercise prior to the injury onset appears to foster protective mechanisms in the brain and spinal cord.

Gomez-Pinilla, Fernando; Ying, Zhe; Zhuang, Yumei

2012-01-01

466

Isospin splitting of the nucleon mean field  

NASA Astrophysics Data System (ADS)

The isospin splitting of the nucleon mean field is derived from the Brueckner theory extended to asymmetric nuclear matter. The Argonne V18 has been adopted as bare interaction in combination with a microscopic three-body force. The isospin splitting of the effective mass is determined from the Brueckner-Hartree-Fock self-energy: It is linear according to the Lane ansatz, such that m*n>m*p for neutron-rich matter. The symmetry potential is also determined, and a comparison is made with the predictions of the Dirac-Brueckner approach and the phenomenological interactions. The theoretical predictions are also compared with the empirical parametrizations of neutron and proton optical model potentials based on the experimental nucleon-nucleus scattering and the phenomenological ones adopted in transport model simulations of heavy-ion collisions. The direct contribution of the rearrangement term due to three-body forces to the single-particle potential and symmetry potential is discussed.

Zuo, W.; Cao, L. G.; Li, B. A.; Lombardo, U.; Shen, C. W.

2005-07-01

467

Meshed split skin graft for extensive vitiligo.  

PubMed

A 30 year old female presented with generalized stable vitiligo involving large areas of the body. Since large areas were to be treated it was decided to do meshed split skin graft. A phototoxic blister over recipient site was induced by applying 8 MOP solution followed by exposure to UVA. The split skin graft was harvested from donor area by Padgett dermatome which was meshed by an ampligreffe to increase the size of the graft by 4 times. Significant pigmentation of the depigmented skin was seen after 5 months. This procedure helps to cover large recipient areas, when pigmented donor skin is limited with minimal risk of scarring. Phototoxic blister enables easy separation of epidermis thus saving time required for dermabrasion from recipient site. PMID:17642598

Srinivas, C R; Rai, Reena; Kumar, P Uday

468

Artificial photosynthesis for solar water-splitting  

NASA Astrophysics Data System (ADS)

Hydrogen generated from solar-driven water-splitting has the potential to be a clean, sustainable and abundant energy source. Inspired by natural photosynthesis, artificial solar water-splitting devices are now being designed and tested. Recent developments based on molecular and/or nanostructure designs have led to advances in our understanding of light-induced charge separation and subsequent catalytic water oxidation and reduction reactions. Here we review some of the recent progress towards developing artificial photosynthetic devices, together with their analogies to biological photosynthesis, including technologies that focus on the development of visible-light active hetero-nanostructures and require an understanding of the underlying interfacial carrier dynamics. Finally, we propose a vision for a future sustainable hydrogen fuel community based on artificial photosynthesis.

Tachibana, Yasuhiro; Vayssieres, Lionel; Durrant, James R.

2012-08-01

469

Metal Oxide Photoanodes for Water Splitting  

Microsoft Academic Search

\\u000a Solar hydrogen production through photocatalytically assisted water splitting has attracted a great deal of attention since\\u000a its first discovery almost 30 years ago. The publication of investigations into the use of TiO2 photoanodes has continued apace since and a critical review of current trends is reported herein. Recent advances in the\\u000a understanding of the behaviour of nanoparticulate TiO2 films is summarized

J. Augusty?ski; B. Alexander; R. Solarska