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1

Complex Split Cord Malformation with Mediastinal Extension of a Teratoma and Simultaneous Ventral and Dorsal Bony Spur Splitting the Cord  

Microsoft Academic Search

Introduction: Association of split cord malformation with teratoma is an extremely rare condition. It is very unusual to find split cord malformation with teratomas extending into the posterior mediastinum and still rarer to find bony spur arising dorsally and ventrally at the same level. Case Report: The authors describe the case of a 2-year-old child who presented with dorsal kyphosis

Vikas Naik; Ashok Kumar Mahapatra; Chaitali Gupta; Vaishali Suri

2010-01-01

2

Split cord malformation associated with spinal open neural tube defect  

PubMed Central

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

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

2014-01-01

3

Split Cord Malformation Combined with Tethered Cord Syndrome in an Adult  

PubMed Central

Split cord malformations (SCMs) usually present in childhood, and are rarely reported in adults. And also, a cervicothoracic SCM associated with tethered cord syndrome has very rarely been reported in the literature. We report a case of SCM associated with tethered cord and spina bifida in an adult. This report describes the case of a 34-year-old woman who presented for evaluation of neck pain, back pain, and intermittent paraparesis of several months duration. The MRI and CT showed a SCM at the cervicothoracic level and a fibrous septum at the thoracic level. She underwent surgery for the SCM and tethered cord syndrome, and was followed for 7 years. Patient presented complete recovery in the follow-up. The authors discuss this unusual lesion and describe the anatomical relationship of the level of cord duplication and fibrous septum. PMID:24294465

Kim, Young Deok; Sung, Ji Hoon; Lee, Sang Won

2013-01-01

4

MRI of a split cord malformation in a German shepherd dog.  

PubMed

A 9 yr old spayed female German shepherd dog was referred for MRI of the thoracic and lumbar spine because she had clinical signs of chronic neurogenic bladder dysfunction of an unknown cause. Transverse T2-weighted images identified a type II split cord malformation (i.e., diastematomyelia) in the thoracic spine. Split cord malformations are forms of spinal dysraphism where the abnormal development of spinal cord results in sagittal splitting of a portion of the cord into two hemicords. The location of the lesion in the thoracic spine was consistent with the dog's clinical signs of an upper motor neuron bladder. Split cord malformations that occur in humans have similar MRI characteristics and can result in similar clinical signs as those identified in the dog described in this report. PMID:22843830

Allett, Brian; Broome, Michael R; Hager, David

2012-01-01

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. PMID:19626347

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

2009-01-01

6

Multi-level Split Cord Malformation: Do We Need a New Classification?  

PubMed Central

Split cord malformations (SCMs) are thought to be rare abnormalities representing 3.8-5% of all spinal cord anomalies. The prevalence is estimated to be 1 in 5499 live births (0.02%), with a slight female predominance (1.3:1). Although the estimates of prevalence vary, Type I SCM occurs more frequently than Type II SCM. In this paper, we are reporting the clinical presentation and imaging findings of multi-level SCM in a 27-year-old male. A literature review of the embryological background of SCM and pathological hypothesis for this entity is provided. A systematic review has been conducted to identify multi-level SCM cases reported in the literature, followed by proposing a new classification system to further our understanding and management of SCMs. PMID:25161801

Alzhrani, Gmaan A; Al-Jehani, Hosam M; Melançon, Denis

2014-01-01

7

A rare case of thoracic myelocystocele associated with type 1 split cord malformation with low lying tethered cord, dorsal syrinx and sacral agenesis: Pentad finding  

PubMed Central

Myelocystocele is a rare form of spinal dysraphism. Thoracic myelocystocele is still rarer. The occurrence of thoracic myelocystocele associated with type-1 split cord malformation, low lying tethered cord, dorsal syrinx and spina bifida is extremely rare. Clinical presentation of such a rare case and an early surgical management is discussed briefly. PMID:25552859

Mankotia, Dipanker Singh; Satyarthee, Guru Dutta; Sharma, Bhawani Shankar

2015-01-01

8

Mediastinal extension of an intradural teratoma in a patient with split cord malformation: case report and review of literature  

Microsoft Academic Search

Introduction  It is very rare for split cord malformation to be associated with intraspinal teratoma, and it is even rarer for such tumors in the dorsal spine to extend into the mediastinum.Case report  The authors describe a spinal teratoma with mediastinal extension in an 8-year-old boy who presented with 1-year history of backache. Neuroimaging revealed a heterogeneously enhancing intradural lesion from D2

Ashish Suri; Faiz Uddin Ahmad; Ashok Kumar Mahapatra; Veer Singh Mehta; Mehar Chand Sharma; Vipul Gupta

2006-01-01

9

Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature  

PubMed Central

Spondylo costal dysostosis (SCD) is a genetic skeletal disorder characterized by a variety of costo-vertebral malformations. SCD with type I split cord malformation (SCM) have been reported in the literature. We report an unusual association of SCD with type II SCM. Imaging studies revealed multiple vertebral segmentations, rib malformations, spina bifida and low lying cord with type II SCM at the D12-L3 level. She underwent detethering of the cord. To the best of our knowledge, this is the first report of the association of SCD with type II SCM. PMID:25250070

Srinivas, Bhavanam Hanuma; Puligopu, Aneel Kumar; Sukhla, Dinesh; Ranganath, Prajnya

2014-01-01

10

Intramedullary spinal cord cavernous malformations.  

PubMed

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

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

2010-09-01

11

Microsurgical resection of intramedullary spinal cord cavernous malformation. Operative video and technical nuances.  

PubMed

Intramedullary spinal cord cavernous malformations account for approximately 5% of all intraspinal lesions. These lesions can present with either acute neurological compromise secondary to hemorrhage inside the spinal cord, or with chronic progressive myelopathy due to repeated microhemorrhages. Surgical resection of spinal cord cavernous malformations remains the definitive treatment strategy for symptomatic lesions. Because of the intimate relationship with surrounding eloquent neural tissue, these lesions can be technically challenging to remove with a significant risk for morbidity. In this operative video, the author demonstrates an illustrative step-by-step technique for microsurgical resection of a large intramedullary spinal cord cavernous malformation at C4-5 causing progressive myelopathy. Complete resection was achieved without neurologic compromise. The operative technique and surgical nuances, including the surgical approach, intradural cavernoma removal, and spinal stabilization are illustrated. The video can be found here: http://youtu.be/3FUjGSyrKO0. PMID:25175570

Liu, James K

2014-09-01

12

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation  

SciTech Connect

Split hand/split foot (SHSF, also known as ectrodactyly) is a human developmental disorder characterized by absent central rays and other distal limb malformations. Physical mapping of SHSF-associated chromosomal rearrangements has provided compelling evidence for the location of a causative gene locus (designated SHFD1) on chromosome 7 within q21.3-q22.1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21.3q22.1 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen - D7S492 - COL1A2 - D7S527 - D7S479 - D7S491 - SHFD1 - D7S554 - ASNS - D7S518 -qter. Dinucleotide repeat polymorphisms at several of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrated autosomal dominant inheritance of this disorder. Strong evidence against linkage of SHSF to the SHFD1 critical region was obtained, and the gene responsible for the SHSF phenotype in this pedigree was excluded from a 10 cM interval spanning the entire SHFD1 critical region. Evidence of exclusion to the SHFD1 critical region was also observed in five additional families. Thus, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF, implying that mutations in at least two separate autosomal genes can result in this distinctive human developmental disorder.

Evans, J.P.; Palmer, S.E.; Wijsman, E.M. [Univ. of Washington, Seattle, WA (United States)] [and others

1994-09-01

13

Split-hand/feet malformation in three tamilian families and review of the reports from India.  

PubMed

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. PMID:24959024

Amalnath, S Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

2014-01-01

14

Split-hand/feet malformation in three tamilian families and review of the reports from India  

PubMed Central

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. PMID:24959024

Amalnath, S. Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

2014-01-01

15

Bowel function after surgery for anorectal malformations in patients with tethered spinal cord  

Microsoft Academic Search

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However,\\u000a the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed\\u000a anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with\\u000a TC

Tomoki Tsuda; Naomi Iwai; Osamu Kimura; Yoshihiro Kubota; Shigeru Ono; Yasunari Sasaki

2007-01-01

16

Tumors and arteriovenous malformations of the spinal cord: assessment using MR.  

PubMed

Thirty-three patients with either primary spinal cord tumors (n = 18), intradural tumors excavating into the cord (n = 9), or spinal arteriovenous malformations (AVM) (n = 6) were studied with magnetic resonance (MR) imaging. In 25 of 38 examinations (66%) (five patients were studied twice), MR provided more information than that provided by other neuroradiologic procedures. In several cases, MR affected patient management decisions. Advantages of MR, in addition to the absence of ionizing radiation and its noninvasive nature, include good spinal cord-CSF-theca contrast, lack of bone-derived artifacts, ease of multiplanar imaging, improved discrimination between intra- and extramedullary lesions, better definition of tumoral cavities and possible distinction from true syringes, ability to help one recognize thrombus formation within an AVM, and ease of follow-up of cord lesions for possible size changes. Apart from factors precluding the study in several patients (life support systems, pacemakers, claustrophobia, neurovascular clips), disadvantages of MR imaging include motion artifacts (prevalent in thoracolumbar area), poor capability of typing and grading of tumors, potential of false-positive results, poor detection of calcification, and poor delineation of feeders and drainers of AVM. PMID:4040644

Di Chiro, G; Doppman, J L; Dwyer, A J; Patronas, N J; Knop, R H; Bairamian, D; Vermess, M; Oldfield, E H

1985-09-01

17

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. PMID:24115638

Gurrieri, Fiorella; Everman, David B

2013-11-01

18

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.  

PubMed

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication. PMID:23790188

Petit, F; Jourdain, A-S; Andrieux, J; Baujat, G; Baumann, C; Beneteau, C; David, A; Faivre, L; Gaillard, D; Gilbert-Dussardier, B; Jouk, P-S; Le Caignec, C; Loget, P; Pasquier, L; Porchet, N; Holder-Espinasse, M; Manouvrier-Hanu, S; Escande, F

2014-05-01

19

Refinement of the Region for Split Hand\\/Foot Malformation 5 on 2q31.1  

Microsoft Academic Search

Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability\\/developmental delay, microcephaly, cleft palate, growth delay, and hand\\/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14

A. Theisen; J. A. Rosenfeld; K. Shane; K. L. McBride; J. F. Atkin; C. Gaba; J. Hoo; T. W. Kurczynski; R. E. Schnur; L. B. Coffey; E. H. Zackai; L. Schimmenti; N. Friedman; M. Zabukovec; S. Ball; R. Pagon; A. Lucas; C. K. Brasington; J. E. Spence; S. Sparks; V. Banks; W. Smith; T. Friedberg; P. R. Wyatt; M. Aust; R. Tervo; A. Crowley; D. Skidmore; A. N. Lamb; B. Ravnan; T. Sahoo; R. Schultz; B. S. Torchia; M. Sgro; D. Chitayat; L. G. Shaffer

2010-01-01

20

Comparative proteomic analysis of malformed umbilical cords from somatic cell nuclear transfer-derived piglets: implications for early postnatal death  

PubMed Central

Background Somatic cell nuclear transfer (scNT)-derived piglets have high rates of mortality, including stillbirth and postnatal death. Here, we examined severe malformed umbilical cords (MUC), as well as other organs, from nine scNT-derived term piglets. Results Microscopic analysis revealed complete occlusive thrombi and the absence of columnar epithelial layers in MUC (scNT-MUC) derived from scNT piglets. scNT-MUC had significantly lower expression levels of platelet endothelial cell adhesion molecule-1 (PECAM-1) and angiogenesis-related genes than umbilical cords of normal scNT piglets (scNT-N) that survived into adulthood. Endothelial cells derived from scNT-MUC migrated and formed tubules more slowly than endothelial cells from control umbilical cords or scNT-N. Proteomic analysis of scNT-MUC revealed significant down-regulation of proteins involved in the prevention of oxidative stress and the regulation of glycolysis and cell motility, while molecules involved in apoptosis were significantly up-regulated. Histomorphometric analysis revealed severe calcification in the kidneys and placenta, peliosis in the liver sinusoidal space, abnormal stromal cell proliferation in the lungs, and tubular degeneration in the kidneys in scNT piglets with MUC. Increased levels of apoptosis were also detected in organs derived from all scNT piglets with MUC. Conclusion These results suggest that MUC contribute to fetal malformations, preterm birth and low birth weight due to underlying molecular defects that result in hypoplastic umbilical arteries and/or placental insufficiency. The results of the current study demonstrate the effects of MUC on fetal growth and organ development in scNT-derived pigs, and provide important insight into the molecular mechanisms underlying angiogenesis during umbilical cord development. PMID:19889237

2009-01-01

21

Tethered cord with anorectal malformation, sacral anomalies and presacral masses: an under-recognized association.  

PubMed

The association of congenital anal stenosis, scimitar-shaped sacral defect and a presacral mass is known as the Currarino triad. These patients present with constipation of variable severity which may result from a combination of compression by the mass, neurogenic dysfunction as well as anal stenosis itself. We have treated three patients who illustrate the spectrum of severity of this condition. All had an associated tethered cord. One was cured by a single anal dilatation, cord release and anterior meningocele repair. The second did not improve after anoplasty and neurosurgical intervention. A previously diagnosed rectal ectasia was felt to be contributory to the constipation and was treated by low anterior resection with excellent results. The third patient developed an ischiorectal abscess that required drainage and colostomy after unsuccessful dilatation of a very tight and deeply scarred anal stenosis. A subsequent tethered cord release and closure of the anterior meningocele was followed by an anoplasty. Colostomy was closed at a later date. In all patients with anal stenosis a search should be made for a presacral mass and its associated sacral defect. Release of the tethered cord, resection of the presacral mass and/or closure of the anterior meningocele are essential for optimal functional results. PMID:7756242

Walton, M; Bass, J; Soucy, P

1995-02-01

22

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis  

Microsoft Academic Search

BACKGROUND: Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. CASE REPORT: We report a 12-year-old-female

Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Franz Grill; Klaus Klaushofer

2006-01-01

23

Resection of a ventral intramedullary cervical spinal cord cavernous malformation through an anterior approach.  

PubMed

Ventrally-located intramedullary cervical spinal cord cavernomas are rare entities in the pediatric population. Surgical access to these lesions is challenging. The authors present the complete resection of a symptomatic ventral cervical intramedullary cavernoma through an anterior approach in a 15-year-old boy. The lesion was accessed following left anterolateral dissection, C3-4 discectomy and C3/C4 partial corpectomy. The authors will discuss the rationale for intervening in this patient and for selecting this anterior approach over other approaches, such as the anterolateral, posterolateral or posterior approach. The steps, pitfalls and pearls of this surgical approach will be demonstrated in a detailed video. The video can be found here: http://youtu.be/-ARTp6g13hgs. PMID:25175579

Weil, Alexander G; Bhatia, Sanjiv

2014-09-01

24

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation  

PubMed Central

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, Hans; Hamel, Ben C. J.; Bamshad, Mike; Sangiorgi, Eugenio; Gurrieri, Fiorella; Duijf, Pascal H. G.; Vanmolkot, Kaate R. J.; van Beusekom, Ellen; van Beersum, Sylvia E. C.; Celli, Jacopo; Merkx, Gerard F. M.; Tenconi, Romano; Fryns, Jean Pierre; Verloes, Alain; Newbury-Ecob, Ruth A.; Raas-Rotschild, Annick; Majewski, Frank; Beemer, Frits A.; Janecke, Andreas; Chitayat, David; Crisponi, Giangiorgio; Kayserili, Hülya; Yates, John R. W.; Neri, Giovanni; Brunner, Han G.

2001-01-01

25

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.  

PubMed

Split-hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterised by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, BHLHA9 has been proposed to be the major candidate gene responsible for this limb malformation. Here we report two new patients affected with ectrodactyly harbouring a 17p13.3 duplication detected by array-CGH. Both duplications contain 3 genes including BHLHA9 and are inherited from an unaffected parent. One of the patients presents a complete radial agenesis, expanding the phenotype of SHFLD3. PMID:23202277

Petit, Florence; Andrieux, Joris; Demeer, Bénédicte; Collet, Louis-Michel; Copin, Henri; Boudry-Labis, Elise; Escande, Fabienne; Manouvrier-Hanu, Sylvie; Mathieu-Dramard, Michèle

2013-02-01

26

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.  

PubMed

Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability/developmental delay, microcephaly, cleft palate, growth delay, and hand/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. Results: All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the HOXD cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the HOXD cluster, 5 of which encompassed DLX1/DLX2, none had clinically significant hand/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. Conclusion: The absence of hand/foot anomalies in any of the individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions. PMID:22140379

Theisen, A; Rosenfeld, J A; Shane, K; McBride, K L; Atkin, J F; Gaba, C; Hoo, J; Kurczynski, T W; Schnur, R E; Coffey, L B; Zackai, E H; Schimmenti, L; Friedman, N; Zabukovec, M; Ball, S; Pagon, R; Lucas, A; Brasington, C K; Spence, J E; Sparks, S; Banks, V; Smith, W; Friedberg, T; Wyatt, P R; Aust, M; Tervo, R; Crowley, A; Skidmore, D; Lamb, A N; Ravnan, B; Sahoo, T; Schultz, R; Torchia, B S; Sgro, M; Chitayat, D; Shaffer, L G

2010-01-01

27

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1  

PubMed Central

Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability/developmental delay, microcephaly, cleft palate, growth delay, and hand/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. Results: All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the HOXD cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the HOXD cluster, 5 of which encompassed DLX1/DLX2, none had clinically significant hand/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. Conclusion: The absence of hand/foot anomalies in any of the individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions. PMID:22140379

Theisen, A.; Rosenfeld, J.A.; Shane, K.; McBride, K.L.; Atkin, J.F.; Gaba, C.; Hoo, J.; Kurczynski, T.W.; Schnur, R.E.; Coffey, L.B.; Zackai, E.H.; Schimmenti, L.; Friedman, N.; Zabukovec, M.; Ball, S.; Pagon, R.; Lucas, A.; Brasington, C.K.; Spence, J.E.; Sparks, S.; Banks, V.; Smith, W.; Friedberg, T.; Wyatt, P.R.; Aust, M.; Tervo, R.; Crowley, A.; Skidmore, D.; Lamb, A.N.; Ravnan, B.; Sahoo, T.; Schultz, R.; Torchia, B.S.; Sgro, M.; Chitayat, D.; Shaffer, L.G.

2011-01-01

28

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.  

PubMed

Purpose:Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.Methods:We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays.Results:We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2? binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2? to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling.Conclusion:FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.Genet Med advance online publication 13 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.166. PMID:25394172

Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

2014-11-13

29

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation  

PubMed Central

Background Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3). Methods Four patients and fourteen unaffected individuals from a four-generation Chinese pedigree with typical SHFM3 phenotypes were recruited for this study. After informed consent was obtained, genome-wide copy number analysis was performed on all patients and two normal family members using the Affymetrix Cytogenetics Whole-Genome 2.7M Array. The results were then confirmed by real-time quantitative polymerase chain reaction in all available individuals of this pedigree. Candidate genes were further screened for mutation through sequence analyses. Results Copy number analysis showed a microduplication at chromosome 10q24.31-q24.32 co-segregating with the SHFM phenotype. Compared to other known genomic duplications for SHFM3, the duplication described here contains two discontinuous DNA fragments. The minimal centromeric duplicated segment of 259 kb involves LBX1, POLL and a disrupted BTRC. The minimal telomeric duplication of 114 kb encompasses DPCD and one part of FBXW4. No coding and splice-site mutations of candidate genes in the region were found. Conclusions Genomic duplications at chromosome 10q24.3, which were identified in the current study, provide further evidence for limb-specific cis-regulatory sequences in this region, highlighting the importance of chromosome 10q24.31-q24.32 in limb development and SHFM pathogenesis. PMID:23596994

2013-01-01

30

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.  

PubMed

Split-hand/split-foot malformation (SHFM), representing variable degree of median clefts of hands and feet, is a genetically heterogeneous group of limb malformations with seven loci mapped on different human chromosomes. However, only 3 genes (TP63, WNT10B, DLX5) for the seven loci have been identified. The study, presented here, described three consanguineous Pakistani families segregating SHFM in autosomal recessive manner. Linkage in the families was searched by genotyping microsatellite markers and mutation screening of candidate gene was performed by Sanger DNA sequencing. Clinical features of affected members of these families exhibited SHFM phenotype with involvement of hands and feet. Genotyping using microsatellite markers mapped the families to WNT10B gene at SHFM6 on chromosome 12q13.11-q13. Subsequently, sequence analysis of WNT10B gene revealed a novel 4-bp deletion mutation (c.1165_1168delAAGT) in one family and 7-bp duplication (c.300_306dupAGGGCGG) in two other families. Structure-based analysis showed a significant conformational shift in the active binding site of mutated WNT10B (p.Lys388Glufs*36), influencing binding with Fzd8. The mutations identified in the WNT10B gene extend the body of evidence implicating it in the pathogenesis of SHFM. PMID:24211389

Aziz, Abdul; Irfanullah; Khan, Saadullah; Zimri, Faridullah Khan; Muhammad, Noor; Rashid, Sajid; Ahmad, Wasim

2014-01-25

31

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans  

PubMed Central

Objective Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype. Methods and results The first proband has a de novo balanced translocation t(2;7)(p25.1;q22) identified by karyotyping. Whole genome sequencing showed that the chromosome 7 breakpoint is situated within the SHFM1 locus on chromosome 7q21.3. This separates the DYNC1I1 exons recently identified as limb enhancers in mouse studies from their target genes, DLX5 and DLX6. In the second family, X-linked recessive inheritance was suspected and exome sequencing was performed to search for a mutation in the affected proband and his uncle. No coding mutation was found within the SHFM2 locus at Xq26 or elsewhere in the exome, but a 106?kb deletion within the SHFM1 locus was detected through copy number analysis. Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted. Conclusions Exome sequencing identified a 106?kb deletion that narrows the SHFM1 critical region from 0.9 to 0.1?Mb and confirms a key role of DYNC1I1 exonic enhancers in normal limb formation in humans. PMID:24459211

Lango Allen, Hana; Caswell, Richard; Xie, Weijia; Xu, Xiao; Wragg, Christopher; Turnpenny, Peter D; Turner, Claire L S; Weedon, Michael N; Ellard, Sian

2014-01-01

32

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.  

PubMed

Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mapping difficult. Here we report a sporadic patient with SHFLD who carries a de novo chromosomal translocation t(2;18)(q14.2;p11.2). Characterisation of the breakpoints revealed that neither disrupts any known gene; however, the chromosome 2 breakpoint lies between GLI2 and INHBB, two genes known to be involved in limb development. To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency. No convincing pathogenic mutations were found, raising the possibility that a long-range cis acting regulatory element may be disrupted by this translocation. The previous description of a translocation with a 2q14.2 breakpoint associated with ectrodactyly, and the mapping of the ectrodactylous Dominant hemimelia mouse mutation to a region of homologous synteny, suggests that 2q14.2 represents a novel locus for SHFLD. PMID:17569090

Babbs, Christian; Heller, Raoul; Everman, David B; Crocker, Mark; Twigg, Stephen R F; Schwartz, Charles E; Giele, Henk; Wilkie, Andrew O M

2007-09-01

33

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families  

PubMed Central

Background A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or “eExons”. Methods We screened a cohort of 134 unrelated families with split-hand/split-foot malformation (SHFM) with high resolution array CGH for CNVs with regulatory potential. Results In three families with an autosomal dominant non-syndromic SHFM phenotype we detected microdeletions encompassing the exonic enhancer (eExons) 15 and 17 of DYNC1I1. In a fourth family, who had hearing loss in addition to SHFM, we found a larger deletion of 510 kb including the eExons of DYNC1I1 and, in addition, the human brain enhancer hs1642. Exons 15 and 17 of DYNC1I1 are known to act as tissue specific limb enhancers of DLX5/6, two genes that have been shown to be associated with SHFM in mice. In our cohort of 134 unrelated families with SHFM, deletions of the eExons of DYNC1I1 account for approximately 3% of the cases, while 17p13.3 duplications were identified in 13% of the families, 10q24 duplications in 12%, and TP63 mutations were detected in 4%. Conclusions We reduce the minimal critical region for SHFM1 to 78 kb. Hearing loss, however, appears to be associated with deletions of a more telomeric region encompassing the brain enhancer element hs1642. Thus, SHFM1 as well as hearing loss at the same locus are caused by deletion of regulatory elements. Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes. PMID:25231166

2014-01-01

34

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.  

PubMed

Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candidate genes in the six loci known to be responsible for SHFM revealed a novel heterozygous mutation, c.558G>T (p.(Gln186His)), in distal-less homeobox 5 (DLX5). As DLX5 encodes a transcription factor capable of transactivating MYC, we also tested whether the mutation could affect DLX5 transcription acitivity. Results from luciferase reporter assay revealed that a mutation in DLX5 compromised its transcriptional activity. This is the first report of a mutation in DLX5 leading to autosomal-dominant SHFM1. PMID:24496061

Wang, Xue; Xin, Qian; Li, Lin; Li, Jiangxia; Zhang, Changwu; Qiu, Rongfang; Qian, Chenmin; Zhao, Hailing; Liu, Yongchao; Shan, Shan; Dang, Jie; Bian, Xianli; Shao, Changshun; Gong, Yaoqin; Liu, Qiji

2014-09-01

35

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 ...

36

Amphibian malformations  

USGS Publications Warehouse

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

National Wildlife Health Center

1998-01-01

37

Anorectal malformations  

PubMed Central

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life. PMID:17651510

Levitt, Marc A; Peña, Alberto

2007-01-01

38

Malformed Frogs  

NSDL National Science Digital Library

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

Twin Cities Public Television, Inc.

2005-01-01

39

Chiari Malformation  

MedlinePLUS

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

40

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Northern Prairie Wildlife Research Center.

1997-01-01

41

Cerebral Cavernous Malformation  

MedlinePLUS

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

42

Anorectal malformations  

PubMed Central

Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

43

Anorectal malformations.  

PubMed

Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

44

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

45

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

46

Radiation-Induced Spinal Cord Hemorrhage (Hematomyelia)  

PubMed Central

Intraspinal hemorrhage is very rare and intramedullary hemorrhage, also called hematomyelia, is the rarest form of intraspinal hemorrhage, usually related to trauma. Spinal vascular malformations such intradural arteriovenous malformations are the most common cause of atraumatic hematomyelia. Other considerations include warfarin or heparin anticoagulation, bleeding disorders, spinal cord tumors. Radiation-induced hematomyelia of the cord is exceedingly rare with only one case in literature to date. We report the case of an 8 year old girl with Ewing’s sarcoma of the thoracic vertebra, under radiation therapy, presenting with hematomyelia. We describe the clinical course, the findings on imaging studies and the available information in the literature. Recognition of the clinical pattern of spinal cord injury should lead clinicians to perform imaging studies to evaluate for compressive etiologies. PMID:25568739

Agarwal, Amit; Kanekar, Sangam; Thamburaj, Krishnamurthy; Vijay, Kanupriya

2014-01-01

47

Laparoscopic approach in the management of anorectal malformations.  

PubMed

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

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

2015-05-01

48

Vascular malformations revisited.  

PubMed

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

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

2015-01-01

49

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

50

Spinal cord trauma  

MedlinePLUS

Spinal cord injury; Compression of spinal cord; SCI; Cord compression ... them more likely to fall may also have spinal cord injury. ... vary depending on the location of the injury. Spinal cord injury causes weakness and loss of feeling at, and ...

51

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

52

Split digraphs  

E-print Network

We generalize the class of split graphs to directed graphs and show these split digraphs can be identified from their degree sequences. We end by discussing their use in characterizing a class of digraphs called directed 3-cycle anchored.

LaMar, M Drew

2010-01-01

53

Tethered Spinal Cord Syndrome  

MedlinePLUS

NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

54

Cord Blood and Transplants  

MedlinePLUS

... network Recruitment centers International donor centers Cord blood banks Cooperative registries Transplant centers Standards Donor centers Our ... umbilical cord blood to a public cord blood bank. We have 209,000 cord blood units listed ...

55

Spinal Cord Injury Map  

MedlinePLUS

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

56

Management strategy for facial venous malformations  

PubMed Central

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

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

2014-01-01

57

Progressive tentorial cavernous malformation  

PubMed Central

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

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

2012-01-01

58

Pediatric dural arteriovenous malformations.  

PubMed

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

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

2014-07-01

59

[Unusual presentation of rib malformation].  

PubMed

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

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

2012-11-01

60

Pulmonary arteriovenous malformations.  

PubMed

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

Shovlin, Claire L

2014-12-01

61

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)

2007-04-20

62

Intralesional radiofrequency in venous malformations.  

PubMed

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

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

2015-03-01

63

Spinal Cord Diseases  

MedlinePLUS

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

64

Spinal Cord Injury  

MedlinePLUS

... Types of illnesses and disabilities Spinal cord injury Spinal cord injury Read advice from Dr. Jeffrey Rabin , a pediatric ... your health on a daily basis. Living with spinal cord injury — your questions answered top What are pediatric rehabilitation ...

65

Intracranial vascular malformations: MR and CT imaging  

SciTech Connect

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

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

1985-08-01

66

Management of perinatal lung malformations.  

PubMed

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

Macardle, C A; Kunisaki, S M

2015-02-01

67

Congenital Pulmonary Malformation in Children  

PubMed Central

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

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

68

Amphibian Population Declines and Malformations  

E-print Network

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

Gray, Matthew

69

Classification and diagnosis of ear malformations  

PubMed Central

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

Bartel-Friedrich, Sylva; Wulke, Cornelia

2008-01-01

70

Spinal Cord Injury  

MedlinePLUS

NINDS Spinal Cord Injury Information Page Condensed from Spinal Cord Injury: Hope Through Research Table of Contents (click to jump to ... Trials Organizations Additional resources from MedlinePlus What is Spinal Cord Injury? A spinal cord injury usually begins with a ...

71

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. PMID:23487348

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

2012-01-01

72

Arteriovenous malformations in the brain  

Microsoft Academic Search

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

Glenn D. Graham

2002-01-01

73

Ischemic spinal cord infarction in children without vertebral fracture  

PubMed Central

Spinal cord infarction in children is a rare condition which is becoming more widely recognized. There are few reports in the pediatric literature characterizing etiology, diagnosis, treament and prognosis. The risk factors for pediatric ischemic spinal cord infarction include obstruction of blood flow associated with cardiovascular compromise or malformation, iatrogenic or traumatic vascular inujury, cerebellar herniation, thrombotic or embolic disease, infection, and vasculitis. In many children the cause of spinal cord ischemia in the absence of vertebral fracture is unknown. Imaging diagnosis of spinal cord ischemia is often difficult due to the small transverse area of the cord, cerebrospinal fluid artifact and inadequate resolution of MRI. Physical therapy is the most important treatment option. The prognosis is dependent on the level of spinal cord damage, early identification and reversal of ischemia, and follow-up with intensive physical therapy and medical support. In addition to summarizing the literature regarding spinal cord infarction in children without vertebral fracture, this review article adds two cases to the literature which highlight the difficulties and controversies in the management of this condition. PMID:17437902

Nance, Jessica R.; Golomb, Meredith R.

2007-01-01

74

Cryptic vascular malformations involving the brainstem  

SciTech Connect

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

Yeates, A.; Enzmann, D.

1983-01-01

75

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

76

Custom-tailored minimally invasive partial C2-corpectomy for ventrally located intramedullary cavernous malformation.  

PubMed

Approaches to ventrally located intramedullary lesions of the upper cervical spine can be extremely challenging. We present a custom-tailored, minimally invasive anterior approach to a ventrally located, intramedullary cavernous hemangioma with partial lateral corpectomy of C2, complete resection of the lesion and subsequent reconstruction. A 20-year-old woman presented with the history of progressive numbness of the left upper and lower extremities and some episodes of severe headaches was referred to magnetic resonance imaging: Here, an intramedullary lesion with typical radiological features for a cavernous malformation at the ventral surface of the spinal cord at the C2 level was detected. The surgical procedure was performed under general anesthesia and electrophysiological monitoring (somatosensory-evoked potentials (SEP), muscle motor-evoked potentials (MEP), and D-wave recording). Complete resection of the cavernous malformation was achieved and reconstruction of the cervical spine was performed using a custom-tailored cage. Intraoperative neuromonitoring during resection, revealed a transient MEP loss, but unchanged D-wave and SEP recordings indicated unchanged neurological outcome. Early clinical follow-up of the patient revealed no new neurological deficits. At 3-month follow-up, there was some improvement of the sensory function. This custom-tailored minimally invasive anterior approach to a ventrally located intramedullary cavernous malformation with partial C2-corpectomy describes a possible and successful approach to ventrally located intramedullary lesions of the upper cervical spinal cord. Additionally, the hereby-described approach is not related to cervical instability. PMID:23568696

Eicker, Sven O; Eicker, Sve O; Szelényi, Andrea; Mathys, Christian; Steiger, Hans-Jakob; Hänggi, Daniel

2013-07-01

77

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

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

78

Scalp arteriovenous malformations in young  

PubMed Central

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

Gupta, Rakesh; Kayal, Akshat

2014-01-01

79

Spinal cord stimulation  

MedlinePLUS

Spinal cord stimulation is a treatment for pain that uses a mild electric current to block nerve impulses ... stretched into the space on top of your spinal cord. These wires will be connected to a small ...

80

Cord-Blood Banking  

MedlinePLUS

... severe combined immunodeficiency . There are two types of banks that store cord blood: Public banks collect donated cord blood for research or for ... collected, anonymously marked, and sent to a public bank to potentially save the life of another child ...

81

Spinal Cord Injuries  

MedlinePLUS

... forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or ... down on the nerve parts that carry signals. Spinal cord injuries can be complete or incomplete. With a complete ...

82

Spinal Cord Infarction  

MedlinePLUS

... 800-225-0292 Fax: 973-912-9433 National Spinal Cord Injury Association 75-20 Astoria Blvd Suite 120 East ... 785-4452 Related NINDS Publications and Information NINDS Spinal Cord Injury Information Page Spinal cord injury information sheet compiled ...

83

MR evaluation of Chiari I malformations at 0.15 T.  

PubMed

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

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

1985-06-01

84

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

85

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

PubMed Central

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

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

2014-01-01

86

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

PubMed

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

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

2014-12-01

87

Midline cerebral malformations and schizophrenia.  

PubMed

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

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

1993-01-01

88

Cephalic Pancreaticoduodenectomy for Bleeding Duodenal Arteriovenous Malformation  

PubMed Central

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

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

2014-01-01

89

A gene map of congenital malformations.  

PubMed Central

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

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

1994-01-01

90

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

PubMed

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

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

2004-04-01

91

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

PubMed

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

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

2013-03-01

92

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

PubMed Central

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

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

2011-01-01

93

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

PubMed

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

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

2007-05-25

94

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

PubMed Central

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

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

2007-01-01

95

Genetics Home Reference: Cerebral cavernous malformation  

MedlinePLUS

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

96

Congenital hand anomaly: etiology and associated malformations.  

PubMed

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

Goldberg, M J; Bartoshesky, L E

1985-08-01

97

The microcephaly-capillary malformation syndrome.  

PubMed

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

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

2011-09-01

98

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

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

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

2012-01-01

99

Malformation and plastic surgery in childhood  

PubMed Central

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

Siegert, Ralf; Magritz, Ralph

2014-01-01

100

Venous Malformation: update on etiopathogenesis, diagnosis & management  

PubMed Central

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

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

2011-01-01

101

Depression and Spinal Cord Injury  

MedlinePLUS

... Urinary Tract Infections: Indwelling (Foley) Catheter Depression and Spinal Cord Injury [ Download this pamphlet: “Depression and Spinal Cord Injury” (PDF - 477KB)] Depression is a common illness that ...

102

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

E-print Network

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

Hall, Julie Maria

2014-07-05

103

Pulmonary arteriovenous malformation mimicking congenital cystic adenomatoid malformation in a newborn  

Microsoft Academic Search

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

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

2006-01-01

104

Central Cord Syndrome  

MedlinePLUS

... syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands ... STANDUP (782-6387) Fax: 305-243-6017 National Spinal Cord Injury Association 75-20 Astoria Blvd Suite 120 East ...

105

Thermocouple split follower  

DOEpatents

Thermoelectric generator assembly accommodating differential thermal expansion between thermoelectric elements by means of a cylindrical split follower forming a slot and having internal spring loaded wedges that permit the split follower to open and close across the slot.

Howell, deceased, Louis J. (late of Upper Merion Township, Montgomery County, PA)

1980-01-01

106

Modeling spinal cord biomechanics  

NASA Astrophysics Data System (ADS)

Regeneration after spinal cord injury is a serious health issue and there is no treatment for ailing patients. To understand regeneration of the spinal cord we used a system where regeneration occurs naturally, such as the lamprey. In this work, we analyzed the stress response of the spinal cord to tensile loading and obtained the mechanical properties of the cord both in vitro and in vivo. Physiological measurements showed that the spinal cord is pre-stressed to a strain of 10%, and during sinusoidal swimming, there is a local strain of 5% concentrated evenly at the mid-body and caudal sections. We found that the mechanical properties are homogeneous along the body and independent of the meninges. The mechanical behavior of the spinal cord can be characterized by a non-linear viscoelastic model, described by a modulus of 20 KPa for strains up to 15% and a modulus of 0.5 MPa for strains above 15%, in agreement with experimental data. However, this model does not offer a full understanding of the behavior of the spinal cord fibers. Using polymer physics we developed a model that relates the stress response as a function of the number of fibers.

Luna, Carlos; Shah, Sameer; Cohen, Avis; Aranda-Espinoza, Helim

2012-02-01

107

Diagnosis of Schmallenberg virus infection in malformed lambs and calves and first indications for virus clearance in the fetus.  

PubMed

Since mid-December 2011, samples from malformed lambs and calves are sent to CODA-CERVA in Belgium for diagnosis of Schmallenberg virus (SBV), a novel Orthobunyavirus that was first detected by researchers of the Friedrich-Loeffler-Institut (FLI, Germany) in German cattle in autumn 2011 and was later shown to be involved in congenital malformations in lambs, goat kids and calves. Surprisingly, by making use of real time RT-PCR (rRT-PCR) assays developed by the FLI, presence of SBV RNA could only be confirmed in part of the SBV suspected newborns examined. To investigate possible causes for non-confirmation by rRT-PCR, a comparative analysis between different organs and tissues (cerebrum, cerebellum, brain stem, spinal cord, thymus, spleen, lymph nodes, meconium) originating from respectively 90 and 81 malformed lambs and calves was undertaken. Furthermore, thoracic fluids of respectively 55 malformed lambs and calves were examined by a virus neutralization test (VNT) to evaluate the presence of neutralizing anti-SBV antibodies in these animals. Our results show that among the different organs tested by rRT-PCR, brain stem material is the most appropriate tissue for SBV detection while it could also be detected in all other tissues but to a more variable degree. The VNT test showed that 95% of the malformed lambs were positive for anti-SBV neutralizing antibodies while this was only the case for 44% of malformed calves. These immunological data suggest that a humoral immune response could assist in the clearance of SBV from the fetus during gestation and that SBV specific antibody testing should be considered together with rRT-PCR analysis for confirmation of SBV infection. PMID:23265245

De Regge, Nick; van den Berg, Thierry; Georges, Laura; Cay, Brigitte

2013-03-23

108

Bisphenol A induces otolith malformations during vertebrate embryogenesis  

E-print Network

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

Paris-Sud XI, Université de

109

Extrapyramidal dysfunction with cerebral arteriovenous malformations 1  

PubMed Central

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

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

1974-01-01

110

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience  

SciTech Connect

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

Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

2013-06-15

111

Spinal Cord Injury 101  

MedlinePLUS Videos and Cool Tools

... is "Braingate" research? What is the status of stem-cell research? How would stem-cell therapies work in the treatment of spinal cord injuries? What does stem-cell research on animals tell us? When can we ...

112

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

113

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

114

Extracorporeal Shock Wave Lithotripsy in Ureteral and Kidney Malformations  

Microsoft Academic Search

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

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

2001-01-01

115

Angiographically occult arteriovenous malformations of the brain  

PubMed Central

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

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

1978-01-01

116

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

117

Bronchopulmonary foregut malformations. The spectrum of anomalies.  

PubMed

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

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

1986-05-01

118

Pediatric Spinal Cord Injury 101  

MedlinePLUS Videos and Cool Tools

... Pressure Sores Transition from Hospital to Home Spasticity, Physical Therapy-Lokomat Sex and Fertility After Spinal Cord ... How do spinal cord injuries before puberty affect physical growth and development? Can scoliosis be slowed or ...

119

Living with Spinal Cord Injury  

MedlinePLUS

... techniques that may prevent injury and disease. A spinal cord injury (SCI) can result from trauma, such as a ... with daily living skills. What can persons with spinal cord injuries and their friends and families do? ? Get involved ...

120

What Is Spinal Cord Injury?  

MedlinePLUS

... NICHD Research Information Clinical Trials Resources and Publications Spinal Cord Injury (SCI): Condition Information Skip sharing on social media ... 3 National Institute of Neurological Disorders and Stroke. Spinal cord injury: Hope through research. Retrieved June 19 , 2013 , from ...

121

Spinal Cord Injury  

NSDL National Science Digital Library

This patient education program discusses how spinal cord injuries are caused and their treatment options. It also includes tips on how to prevent spinal cord injuries. This resource is a MedlinePlus Interactive Health Tutorial from the National Library of Medicine, designed and developed by the Patient Education Institute. NOTE: This tutorial requires a special Flash plug-in, version 4 or above. If you do not have Flash, you will be prompted to obtain a free download of the software before you start the tutorial. You will also need an Acrobat Reader, available as a free download, in order to view the Reference Summary.

Patient Education Institute

122

GI-Associated Hemangiomas and Vascular Malformations  

PubMed Central

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

Yoo, Stephen

2011-01-01

123

Neuropathology of cerebral arteriovenous malformations in children.  

PubMed Central

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

Takashima, S; Becker, L E

1980-01-01

124

Splitting for Descombes ,  

E-print Network

flames (2D or 3D with chemistry of "simple" fuel, Y. Mizobuchi, T. Takeno et al., CERFACS- NTMIX Unsteady reactive phenomena RD systems Numerical Strategies Splitting Standard analysis Stiffness;Operator Splitting for reaction waves S. Descombes , T. Dumont , V. Louvet , M. Massot Context Unsteady

Louvet, Violaine

125

Treatment of arteriovenous malformations of the brain  

Microsoft Academic Search

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

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

2007-01-01

126

Statins and congenital malformations: cohort study  

PubMed Central

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

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

2015-01-01

127

Developmental genetic malformations of the cerebral cortex  

Microsoft Academic Search

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

Volney L. Sheen; Christopher A. Walsh

2003-01-01

128

Nocturnal apnea in Chiari type I malformation  

Microsoft Academic Search

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

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

2011-01-01

129

Malformations of cortical development and epilepsy  

PubMed Central

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

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

130

Anterior spinal cord syndrome of unknown etiology  

PubMed Central

A spinal cord injury encompasses a physical insult to the spinal cord. In the case of anterior spinal cord syndrome, the insult is a vascular lesion at the anterior spinal artery. We present the cases of two 13-year-old boys with anterior spinal cord syndrome, along with a review of the anatomy and vasculature of the spinal cord and an explanation of how a lesion in the cord corresponds to anterior spinal cord syndrome. PMID:25552812

Klakeel, Merrine; Thompson, Justin; McDonald, Frank

2015-01-01

131

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

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

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

2008-01-01

132

Malformations in neotropical viperids: qualitative and quantitative analysis.  

PubMed

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

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

2013-11-01

133

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

134

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

PubMed Central

The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be appropriate for arterio-venous malformations. Incurable findings are still a major challenge. Despite the introduction of antiangiogenetic drugs in oncology, the medicamentous therapeutic approach could not be established for arterio-venous malformations up to now. PMID:25587362

Eivazi, Behfar; Werner, Jochen A.

2014-01-01

135

Splitting a default theory  

SciTech Connect

This paper presents mathematical results that can sometimes be used to simplify the task of reasoning about a default theory, by {open_quotes}splitting it into parts.{close_quotes} These so-called Splitting Theorems for default logic are related in spirit to {open_quotes}partial evaluation{close_quotes} in logic programming, in which results obtained from one part of a program are used to simplify the remainder of the program. In this paper we focus primarily on the statement and proof of the Splitting Theorems for default logic. We illustrate the usefulness of the results by applying them to an example default theory for commonsense reasoning about action.

Turner, H. [Univ. of Texas, Austin, TX (United States)

1996-12-31

136

Malformations Among the X-Linked Intellectual Disability Syndromes  

PubMed Central

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

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

2013-01-01

137

The Triangle Splitting Method  

E-print Network

In Section 5, we go over linear programming based enhancements. .... search algorithm to solve the resulting multiobjective linear program at a leaf node. ...... LP identified a split point that was not in the strict interior the triangle, which was ...

2015-01-08

138

Hydrolytic splitting of carboxymethylcellulose  

Microsoft Academic Search

The possibility has been shown of using hydrolytic splitting to regulate the degree of polymerization and the molecular and\\u000a compositional homogeneity of carboxymethylcellulose, which makes it suitable for the production of medico-biological polymers.

A. S. Turaev; E. N. Yanishevskaya

1994-01-01

139

Polarized Antenna Splitting Functions  

SciTech Connect

We consider parton showers based on radiation from QCD dipoles or 'antennae'. These showers are built from 2 {yields} 3 parton splitting processes. The question then arises of what functions replace the Altarelli-Parisi splitting functions in this approach. We give a detailed answer to this question, applicable to antenna showers in which partons carry definite helicity, and to both initial- and final-state emissions.

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

2009-10-17

140

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

PubMed

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

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

1997-07-01

141

Somatic Mutations in Cerebral Cortical Malformations  

PubMed Central

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

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

2014-01-01

142

Laser treatment of oral vascular malformations  

NASA Astrophysics Data System (ADS)

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

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

2014-01-01

143

BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN  

PubMed Central

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

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

2009-01-01

144

Pretreatment imaging of peripheral vascular malformations  

PubMed Central

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

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

2015-01-01

145

Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete  

PubMed Central

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

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

2013-01-01

146

Spinal arteriovenous malformation masquerating zoster sine herpete.  

PubMed

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

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

2013-01-01

147

Role of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

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

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

148

Congenital bronchopulmonary vascular malformations, “sequestration” and beyond  

PubMed Central

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

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

2015-01-01

149

A split hand-split foot (SHFM3) gene is located at 10q24{yields}25  

SciTech Connect

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 10q24{yields}25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus. 36 refs., 3 figs., 3 tabs.

Gurrieri, F.; Genuardi, M.; Nanni, L.; Sangiorgi, E.; Garofalo, G. [Catholic Univ. of Rome (Italy)] [and others

1996-04-24

150

Bridging spinal cord injuries  

E-print Network

] describe a particular type of immature astrocyte that seems to provide a very successful bridging material. The idea of using embryonic CNS tissue and embryonic astrocytes for repairing the spinal cord has a long history. Axons grow in the embryonic CNS, so... at various mechanisms, including neutrali- zation of inhibitory molecules, promotion of plasticity, direct stimulation of axon regeneration, bridging and control of inflammation. A combination of two or more of these approaches will be needed to achieve...

2008-10-15

151

Umbilical cord blood cells.  

PubMed

The umbilical cord of a healthy neonate contains within it a multipotential treatment for a myriad of diseases and injuries. What was once tossed into the biohazard waste without a second thought is now known to be a goldmine of antigenically immature cells that rival the use of bone marrow for reconstitution of blood lineages. Umbilical cord blood (UCB) is emerging as an effective and feasible clinical treatment as its availability increases and benefits are realized. Basic science research has demonstrated a broad therapeutic capacity ranging from cell replacement to cell protection and anti-inflammation in a number of animal disease and injury models. UCB is easily obtained with no harm to infant or mother and can be stored at cryogenic temperatures with relatively little loss of cells upon thaw. The heterogeneous mononuclear fraction has been identified and characterized and transplanted both locally and systemically to treat animal models of stroke, myocardial infarction, Amytrophic Lateral Sclerosis, San Filippo, spinal cord injury, traumatic brain injury, and age-related neurodegeneration, among others. In the pages to follow, we share protocols for the identification and research use of the mononuclear cell fraction of UCB. PMID:19378200

Newcomb, Jennifer D; Willing, Alison E; Sanberg, Paul R

2009-01-01

152

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

PubMed Central

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 temporooccipi tal 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

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

2014-01-01

153

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype  

PubMed Central

Background: Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males. Objective: To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS. Results: There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum sometimes associated with interhemispheric cysts, and a novel mid-hindbrain malformation. The latter consisted of a giant and dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres in most cases, and a large posterior fossa fluid collection. Conclusions: The mid-hindbrain malformation appears pathognomonic for OCCS. The eye and skin features of OCCS show considerable overlap with several other syndromes, such as encephalocraniocutaneous lipomatosis, oculo-auriculo-vertebral spectrum, and focal dermal hypoplasia, none of which has a comparable pattern of brain malformations. In particular the unique mid-hindbrain malformation also distinguishes OCCS from related syndromes with comparable forebrain anomalies. The pattern of malformation described thus helps in differentiating OCCS from other entities. The mid-hindbrain malformation points to a defect of the mid-hindbrain organiser as the underlying pathogenic mechanism. PMID:15879499

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

2005-01-01

154

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

Microsoft Academic Search

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

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

1991-01-01

155

Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases  

PubMed Central

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

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

2012-01-01

156

Field Guide to Malformations of Frogs and Toads  

E-print Network

Field Guide to Malformations of Frogs and Toads With Radiographic Interpretations U.S. Department recently metamorphosed frogs that were collected in Minnesota, Vermont, Wisconsin and Maine and examined on the northern leopard frog (Rana pipiens). The malformations and the method of their classification are reported

Torgersen, Christian

157

COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS  

Microsoft Academic Search

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

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

158

Research Report Genetic interactions among cortical malformation genes that  

E-print Network

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

Caldwell, Guy

159

Lumbar extradural arteriovenous malformation: case report and literature review  

Microsoft Academic Search

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

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

2007-01-01

160

Stenogyria - not only in Chiari II malformation.  

PubMed

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

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

2014-12-15

161

Intralesional laser therapy for vascular malformations.  

PubMed

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

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

2014-11-01

162

[Sex cord gonadal stromal tumors].  

PubMed

According to the World Health Organization (WHO) classification from 2004, sex cord gonadal stromal tumors are divided into Leydig cell tumors, Sertoli cell tumors, granulosa cell tumors, tumors of the thecoma-fibroma group, incompletely differentiated sex cord gonadal stromal tumors, mixed forms of sex cord gonadal stromal tumors and tumors containing both germ cell and sex cord gonadal stromal elements. These tumors can appear sporadically or in combination with hereditary syndromes. To diagnose these rare tumors the combination of characteristic morphological aspects and various immunohistochemical markers is useful. Latest investigations demonstrate the potential role of mutation analyses in the diagnosis of this heterogeneous group of tumors. PMID:24819979

Bremmer, F; Behnes, C L; Radzun, H-J; Bettstetter, M; Schweyer, S

2014-05-01

163

Split Special Lagrangian Geometry  

E-print Network

One purpose of this article is to draw attention to the seminal work of J. Mealy in 1989 on calibrations in semi-riemannian geometry where split SLAG geometry was first introduced. The natural setting is provided by doing geometry with the complex numbers C replaced by the double numbers D, where i with i^2 = -1 is replaced by tau with tau^2 = 1. A rather surprising amount of complex geometry carries over, almost untouched, and this has been the subject of many papers. We briefly review this material and, in particular, we discuss Hermitian D-manifolds with trivial canonical bundle, which provide the background space for the geometry of split SLAG submanifolds. A removable singularities result is proved for split SLAG subvarieties. It implies, in particular, that there exist no split SLAG cones, smooth outside the origin, other than planes. This is in sharp contrast to the complex case. Parallel to the complex case, space-like Lagrangian submanifolds are stationary if and only if they are theta-split SLAG for...

Harvey, F Reese

2010-01-01

164

Split spline screw  

NASA Technical Reports Server (NTRS)

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. (inventor)

1993-01-01

165

Spinal cord repair in MS  

PubMed Central

Objective: To investigate the mechanisms of spinal cord repair and their relative contribution to clinical recovery in patients with multiple sclerosis (MS) after a cervical cord relapse, using spinal cord 1H-magnetic resonance spectroscopy (MRS) and volumetric imaging. Methods: Fourteen patients with MS and 13 controls underwent spinal cord imaging at baseline and at 1, 3, and 6 months. N-acetyl-aspartate (NAA) concentration, which reflects axonal count and metabolism in mitochondria, and the cord cross-sectional area, which indicates axonal count, were measured in the affected cervical region. Mixed effect linear regression models investigated the temporal evolution of these measures and their association with clinical changes. Ordinal logistic regressions identified predictors of recovery. Results: Patients who recovered showed a sustained increase in NAA after 1 month. In the whole patient group, a greater increase of NAA after 1 month was associated with greater recovery. Patients showed a significant decline in cord area during follow-up, which did not correlate with clinical changes. A worse recovery was predicted by a longer disease duration at study entry. Conclusions: The partial recovery of N-acetyl-aspartate levels after the acute event, which is concurrent with a decline in cord cross-sectional area, may be driven by increased axonal mitochondrial metabolism. This possible repair mechanism is associated with clinical recovery, and is less efficient in patients with longer disease duration. These insights into the mechanisms of spinal cord repair highlight the need to extend spinal cord magnetic resonance spectroscopy to other spinal cord disorders, and explore therapies that enhance recovery by modulating mitochondrial activity. GLOSSARY CI = confidence interval; EDSS = Expanded Disability Status Scale; FOV = field of view; MR = magnetic resonance; MRS = magnetic resonance spectroscopy; MS = multiple sclerosis; NAA = N-acetyl-aspartate; SC = spinal cord; TE = echo time; TI = inversion time; TR = repetition time. PMID:20107138

Ciccarelli, O.; Altmann, D. R.; McLean, M. A.; Wheeler-Kingshott, C. A.; Wimpey, K.; Miller, D. H.; Thompson, A. J.

2010-01-01

166

[Split-liver transplantation].  

PubMed

Split-liver transplantation is now established as a safe and successful technique that extends the donor pool for patients of all ages and thus reduces waiting-list mortality, although it can not solve the problem of organ shortage alone. Split-liver transplantation additionally represents an alternative to living liver transplantation without a potential risk of harm to the donor. Careful selection of donor and recipient, high technical and surgical skill, and experience are necessary to achieve results comparable to those of whole organ transplantation. PMID:18209986

Loss, M; Obed, A; Schlitt, H J

2008-02-01

167

Stabilized Zeeman split laser  

NASA Technical Reports Server (NTRS)

The development of a stablized Zeeman split laser for use in a polarization profilometer is discussed. A Hewlett-Packard laser was modified to stabilize the Zeeman split beat frequency thereby increasing the phase measurement accuracy from the Hewlett-Packard 3 degrees to an accuracy of .01 degrees. The addition of a two layered inductive winding converts the laser to a current controlled oscillator whose frequency is linearly related to coil current. This linear relationship between coil current and laser frequency permits phase locking the laser frequency to a stable crystal controlled reference frequency. The stability of the system is examined and the equipment operation procedures are outlined.

1981-01-01

168

Spinal Cord Injury Prevention Tips  

MedlinePLUS

Spinal Cord Injury Prevention Tips Preventing SCI Biking prevention tips While many cycling injuries are head injuries, the proper ... NeurosurgeryToday.org Every year, an estimated 11,000 spinal cord injury (SCI) accidents occur in the United States. Motor ...

169

Diagnosis and management of pulmonary arteriovenous malformations  

PubMed Central

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

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

2002-01-01

170

Multimodal device for assessment of skin malformations  

NASA Astrophysics Data System (ADS)

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

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

2013-11-01

171

Split Injection Gas Chromatography  

NSDL National Science Digital Library

This animation site deals specifically with split injection in gas chromatography. The animations are short (one to two minutes each) and can easily be shown in class as part of a lecture. They are extremely helpful in illustrating key components and concepts of chromatographic systems. Users are encouraged to explore the site and the other brief animations as well.

172

Split image optical display  

DOEpatents

A video image is displayed from an optical panel by splitting the image into a plurality of image components, and then projecting the image components through corresponding portions of the panel to collectively form the image. Depth of the display is correspondingly reduced.

Veligdan, James T.

2005-05-31

173

Split image optical display  

DOEpatents

A video image is displayed from an optical panel by splitting the image into a plurality of image components, and then projecting the image components through corresponding portions of the panel to collectively form the image. Depth of the display is correspondingly reduced.

Veligdan, James T. (Manorville, NY)

2007-05-29

174

PROBLEM SECTION Splitting digraphs  

E-print Network

PROBLEM SECTION Splitting digraphs Noga Alon There are several known results asserting three problems of this type, and mention the undirected analogs. All graphs and digraphs considered here positive k, Fk(1) is precisely the minimum F so that any digraph with minimum outdegree F contains k

Shamir, Ron

175

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

176

Outcome of cochlear implantation in children with cochlear malformations.  

PubMed

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

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

2015-03-01

177

Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations  

PubMed Central

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

Norstedt Wikner, Birgitta

2014-01-01

178

Recent advances in the genetic etiology of brain malformations.  

PubMed

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

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

2013-08-01

179

Retraining the injured spinal cord  

NASA Technical Reports Server (NTRS)

The present review presents a series of concepts that may be useful in developing rehabilitative strategies to enhance recovery of posture and locomotion following spinal cord injury. First, the loss of supraspinal input results in a marked change in the functional efficacy of the remaining synapses and neurons of intraspinal and peripheral afferent (dorsal root ganglion) origin. Second, following a complete transection the lumbrosacral spinal cord can recover greater levels of motor performance if it has been exposed to the afferent and intraspinal activation patterns that are associated with standing and stepping. Third, the spinal cord can more readily reacquire the ability to stand and step following spinal cord transection with repetitive exposure to standing and stepping. Fourth, robotic assistive devices can be used to guide the kinematics of the limbs and thus expose the spinal cord to the new normal activity patterns associated with a particular motor task following spinal cord injury. In addition, such robotic assistive devices can provide immediate quantification of the limb kinematics. Fifth, the behavioural and physiological effects of spinal cord transection are reflected in adaptations in most, if not all, neurotransmitter systems in the lumbosacral spinal cord. Evidence is presented that both the GABAergic and glycinergic inhibitory systems are up-regulated following complete spinal cord transection and that step training results in some aspects of these transmitter systems being down-regulated towards control levels. These concepts and observations demonstrate that (a) the spinal cord can interpret complex afferent information and generate the appropriate motor task; and (b) motor ability can be defined to a large degree by training.

Edgerton, V. R.; Leon, R. D.; Harkema, S. J.; Hodgson, J. A.; London, N.; Reinkensmeyer, D. J.; Roy, R. R.; Talmadge, R. J.; Tillakaratne, N. J.; Timoszyk, W.; Tobin, A.

2001-01-01

180

Imaging of Chiari type I malformation and syringohydromyelia.  

PubMed

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

McVige, Jennifer W; Leonardo, Jody

2014-02-01

181

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

182

Spinal cord injury in the rat  

Microsoft Academic Search

Only limited therapeutic measures are currently available for the treatment of spinal cord injury. This review describes the pathologic mechanisms of trauma-induced spinal cord injury in rats, which will contribute to new understanding of the pathologic process leading to spinal cord injury and to further development of new therapeutic strategies. Spinal cord injury induced by trauma is a consequence of

Yuji Taoka; Kenji Okajima

1998-01-01

183

Attitudes Towards Individuals with Spinal Cord Injuries  

ERIC Educational Resources Information Center

This paper will shed light on the lives of persons with spinal cord injuries by revealing the literature on spinal cord injuries that focuses on research that can shed light on attitudes towards persons with spinal cord injuries. The background literature related to incidences, the definition of spinal cord injury, and vocational opportunities are…

Conway, Cassandra Sligh D.; Gooden, Randy; Nowell, Jennifer; Wilson, Navodda

2010-01-01

184

Pulmonary vascular malformation complicating cryptococcal pneumonia in an immunocompetent patient  

PubMed Central

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

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

2014-01-01

185

Contracted foal syndrome associated with multiple malformations in two foals.  

PubMed

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

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

2014-02-01

186

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

PubMed

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

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

2015-03-01

187

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

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

188

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

189

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

190

Giant Cystic Cerebral Cavernous Malformation with Multiple Calcification - Case Report  

PubMed Central

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

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

2013-01-01

191

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

PubMed

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

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

2004-11-01

192

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

PubMed

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

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

2014-07-01

193

Adjustment to Spinal Cord Injury  

MedlinePLUS

... to adjusting to spinal cord injury is personal motivation . Individuals who are newly injured are often motivated ... to find purpose in your life and the motivation to achieve your goals. It may help to ...

194

Pregnancy Complications: Umbilical Cord Abnormalities  

MedlinePLUS

... singleton and about 5 percent of multiple pregnancies (twins, triplets or more) have an umbilical cord that ... or speed up labor. The woman is delivering twins vaginally. The second twin is more commonly affected. ...

195

Surgical approaches to brainstem cavernous malformations.  

PubMed

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

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

2010-09-01

196

Erythropoietin in spinal cord injury  

Microsoft Academic Search

Spinal cord injury (SCI) is a devastating condition for individual patients and costly for health care systems requiring significant\\u000a long-term expenditures. Cytokine erythropoietin (EPO) is a glycoprotein mediating cytoprotection in a variety of tissues,\\u000a including spinal cord, through activation of multiple signaling pathways. It has been reported that EPO exerts its beneficial\\u000a effects by apoptosis blockage, reduction of inflammation, and

Georgios K. Matis; Theodossios A. Birbilis

2009-01-01

197

Cord pilot trial - immediate versus deferred cord clamping for very preterm birth (before 32 weeks gestation): study protocol for a randomized controlled trial  

PubMed Central

Background Preterm birth is the most important single determinant of adverse outcome in the United Kingdom; one in every 70 babies (1.4%) is born before 32 weeks (very preterm), yet these births account for over half of infant deaths. Deferring cord clamping allows blood flow between baby and placenta to continue for a short time. This often leads to increased neonatal blood volume at birth and may allow longer for transition to the neonatal circulation. Optimal timing for clamping the cord remains uncertain, however. The Cochrane Review suggests that deferring umbilical cord clamping for preterm births may improve outcome, but larger studies reporting substantive outcomes and with long-term follow-up are needed. Studies of the physiology of placental transfusion suggest that flow in the umbilical cord at very preterm birth may continue for several minutes. This pilot trial aims to assess the feasibility of conducting a large randomised trial comparing immediate and deferred cord clamping in the UK. Methods/Design Women are eligible for the trial if they are expected to have a live birth before 32 weeks gestation. Exclusion criteria are known monochorionic twins or clinical evidence of twin-twin transfusion syndrome, triplet or higher order multiple pregnancy, and known major congenital malformation. The interventions will be cord clamping within 20 seconds compared with cord clamping after at least two minutes. For births with cord clamping after at least two minutes, initial neonatal care is at the bedside. For the pilot trial, outcomes include measures of recruitment, compliance with the intervention, retention of participants and data quality for the clinical outcomes. Information about the trial is available to women during their antenatal care. Women considered likely to have a very preterm birth are approached for informed consent. Randomisation is close to the time of birth. Follow-up for the women is for one year, and for the children to two years of age (corrected for gestation at birth). The target sample size is 100 to 110 mother-infant pairs recruited over 12 months at eight sites. Trial registration ISRCTN21456601, registered on 28 February 2013. PMID:24981366

2014-01-01

198

A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.  

PubMed

We describe a-2-year-old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye-brows, deep-set eyes, depressed nasal bridge, and small overhanging nasal tip, full-cheeks, and large ears. Array-CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations. PMID:24838992

Al Kaissi, Ali; Ganger, Rudolf; Rötzer, Katharina M; Klaushofer, Klaus; Grill, Franz

2014-09-01

199

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

PubMed

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

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

2013-12-01

200

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

201

Thoracic spinal cord cavernous angioma: a case report and review of the literature  

PubMed Central

Introduction Cavernous angiomas of the spinal cord are rare vascular malformations, which account for approximately 5 to 12 percent of spinal cord vascular lesions. They usually originate in the vertebrae, with occasional extension into the extradural space, and intramedullary cavernomas, even if reported in the literature, are very rare. Case presentation We report the case of a 34-year-old Caucasian woman affected by a thoracic intramedullary cavernous angioma. Our patient complained of 10-day history of acute dorsal pain, progressive weakness of both lower extremities, worse on the right side, a ‘pins and needles’ sensation in the abdominal region and bladder dysfunction. Magnetic resonance imaging showed, at D5 level, a vascular malformation, which was not documented at spinal angiography. Our patient underwent surgical treatment with total removal of the lesion and her symptoms gradually improved. A histological examination revealed the typical features of a cavernous angioma. Conclusions Intramedullary cavernous angioma is a rare lesion that should be diagnosed early and surgically treated before rebleeding or enlargement of the lesion can occur. PMID:25106882

2014-01-01

202

Epidemiology and natural history of arteriovenous malformations.  

PubMed

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

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

2001-01-01

203

Vein of Galen arteriovenous malformation mimicking coarctation of the aorta.  

PubMed

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

Firdouse, Mohammed; Agarwal, Arnav; Mondal, Tapas

2014-12-01

204

Defining anural malformations in the context of a developmental problem  

USGS Publications Warehouse

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

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

2000-01-01

205

Gross congenital malformation at birth in a government hospital.  

PubMed

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

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

2014-01-01

206

Anorectal Malformations Associated with Esophageal Atresia in Neonates  

PubMed Central

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

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

2013-01-01

207

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

PubMed

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

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

1994-01-01

208

A familial venous malformation locus is on chromosome 9p  

SciTech Connect

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

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

1994-09-01

209

Vocal Cord Nodules, Polyps, and Cysts  

MedlinePLUS

... variety of shapes and sizes. Depending upon the nature of the polyp, it can cause a wide range of voice disturbances. Vocal Cord Cyst A vocal cord cyst is a firm mass of tissue contained within a membrane (sac). ...

210

Leptogenesis from split fermions  

SciTech Connect

We present a new type of leptogenesis mechanism based on a two-scalar split-fermions framework. At high temperatures the bulk scalar vacuum expectation values (VEVs) vanish and lepton number is strongly violated. Below some temperature, T{sub c}, the scalars develop extra dimension dependent VEVs. This transition is assumed to proceed via a first order phase transition. In the broken phase the fermions are localized and lepton number violation is negligible. The lepton-bulk scalar Yukawa couplings contain sizable CP phases which induce lepton production near the interface between the two phases. We provide a qualitative estimation of the resultant baryon asymmetry which agrees with current observation. The neutrino flavor parameters are accounted for by the above model with an additional approximate U(1) symmetry.

Nagatani, Yukinori; Perez, Gilad

2004-01-11

211

Basic research Malformations of cortical development and epilepsy  

E-print Network

Malformations of cortical development (MCDs) are brain malformations that result from abnormalities affecting the normal processes of cortical development and involving cells that under normal circumstances would participate in formation of the cerebral cortex. Epileptic seizures result from paroxysmal, uncontrolled discharges of electricity from the brain that arise predominantly from the cerebral cortex. It is not surprising therefore that MCDs are often associated with recurrent seizures, and that these seizures may be difficult to control. The seizures in MCDs arise as a consequence of either malpositioning of normal cortical neurons or Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning

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

212

Dural arteriovenous malformation in the anterior cranial fossa.  

PubMed

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

Gliemroth, J; Nowak, G; Arnold, H

1999-03-01

213

Classification of pain following spinal cord injury  

Microsoft Academic Search

Pain continues to be a significant management problem in people with spinal cord injuries. Despite this there is little consensus regarding the nature, terminology and definitions of the various types of pain that occur following spinal cord injury. This has led to large variations in the reported incidence and prevalence of pain following spinal cord injury. Treatment studies have been

P J Siddall; D A Taylor; M J Cousins

1997-01-01

214

Nuchal cord type A and type B  

Microsoft Academic Search

Nuchal cord type A and type B need to be distinguished at delivery. Type A encircles the neck in an unlocked pattern. Type B encircles the neck in a locked pattern. In a prospective review of nuchal cords the type B pattern occurred in 1 in 50 births. Cesarean section and stillbirth were associated with type B nuchal cord.(Am J

Jason H. Collins

1997-01-01

215

Evaluation of spinal cord injury animal models  

PubMed Central

Because there is no curative treatment for spinal cord injury, establishing an ideal animal model is important to identify injury mechanisms and develop therapies for individuals suffering from spinal cord injuries. In this article, we systematically review and analyze various kinds of animal models of spinal cord injury and assess their advantages and disadvantages for further studies. PMID:25598784

Zhang, Ning; Fang, Marong; Chen, Haohao; Gou, Fangming; Ding, Mingxing

2014-01-01

216

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

217

Psychological Aspects of Spinal Cord Injury  

ERIC Educational Resources Information Center

Reviewing literature on the psychological impact of spinal cord injury suggests: (a) depression may not be a precondition for injury adjustment; (b) many persons sustaining cord injury may have experienced psychological disruption prior to injury; and (c) indexes of rehabilitation success need to be developed for the spinal cord injured. (Author)

Cook, Daniel W.

1976-01-01

218

ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS  

EPA Science Inventory

A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

219

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

PubMed

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

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

2015-01-01

220

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

PubMed Central

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

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

2015-01-01

221

Prenatal diagnosis of congenital renal and urinary tract malformations  

PubMed Central

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

Hindryckx, A.; De Catte, L.

2011-01-01

222

Regression of a Large Congenital Hepatic Arteriovenous Malformation  

PubMed Central

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

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

2015-01-01

223

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

PubMed Central

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

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

2013-01-01

224

Isolated intramedullary spinal cord cysticercosis.  

PubMed

Neurocysticercosis is a major cause of epilepsy in developing countries. Cysticercal involvement of the spinal cord is rare even in endemic areas and accounts for 0.7 to 5.85% of all cases. We present a 19-year-old man who presented with weakness of both lower limbs and urinary complaints in the form of straining of micturition with increased frequency, in whom preoperative MRI revealed a well-defined cystic lesion in dorso-lumber cord extending from D11 to L1 level, which on pathological examination was found to be intramedullary cysticercosis. PMID:25540546

Qazi, Zeeshan; Ojha, Bal Krishna; Chandra, Anil; Singh, Sunil Kumar; Srivastava, Chhitij; Patil, Tushar B

2014-11-01

225

Isolated intramedullary spinal cord cysticercosis  

PubMed Central

Neurocysticercosis is a major cause of epilepsy in developing countries. Cysticercal involvement of the spinal cord is rare even in endemic areas and accounts for 0.7 to 5.85% of all cases. We present a 19-year-old man who presented with weakness of both lower limbs and urinary complaints in the form of straining of micturition with increased frequency, in whom preoperative MRI revealed a well-defined cystic lesion in dorso-lumber cord extending from D11 to L1 level, which on pathological examination was found to be intramedullary cysticercosis. PMID:25540546

Qazi, Zeeshan; Ojha, Bal Krishna; Chandra, Anil; Singh, Sunil Kumar; Srivastava, Chhitij; Patil, Tushar B.

2014-01-01

226

A New Flux Splitting Scheme  

NASA Astrophysics Data System (ADS)

A new flux splitting scheme is proposed. The scheme is remarkably simple and yet its accuracy rivals, and in some cases surpasses, that of Roe's solver in the Euler and Navier-Stokes solutions carried out in this study, The scheme is robust and converges as fast as the Roe splitting. We propose an appropriately defined cell-face advection Mach number using values from the two straddling cells via associated characteristic speeds. This interface Mach number is then used to determine the upwind extrapolation for the convective quantities. Accordingly, the name of the scheme is coined as the advection upstream splitting method (AUSM). We also introduce a new pressure splitting which is shown to behave successfully, yielding much smoother results than other existing pressure splittings. Of particular interest is the supersonic blunt body problem in which the Roe scheme gives anomalous solutions. The AUSM produces correct solutions without difficulty for a wide range of flow conditions as well as grids.

Liou, Meng-Sing; Steffen, Christopher J.

1993-07-01

227

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

Microsoft Academic Search

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

Melissa A. Parisi; William B. Dobyns

2003-01-01

228

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

229

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

ERIC Educational Resources Information Center

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

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

2009-01-01

230

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

Microsoft Academic Search

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

Adrian S Woolf

2000-01-01

231

Melatonin lowers edema after spinal cord injury  

PubMed Central

Melatonin has been shown to diminish edema in rats. Melatonin can be used to treat spinal cord injury. This study presumed that melatonin could relieve spinal cord edema and examined how it might act. Our experiments found that melatonin (100 mg/kg, i.p.) could reduce the water content of the spinal cord, and suppress the expression of aquaporin-4 and glial fibrillary acidic protein after spinal cord injury. This suggests that the mechanism by which melatonin alleviates the damage to the spinal cord by edema might be related to the expression of aquaporin-4 and glial fibrillary acidic protein. PMID:25657743

Li, Cheng; Chen, Xiao; Qiao, Suchi; Liu, Xinwei; Liu, Chang; Zhu, Degang; Su, Jiacan; Wang, Zhiwei

2014-01-01

232

Split supersymmetry radiates flavor  

NASA Astrophysics Data System (ADS)

Radiative flavor models where the hierarchies of Standard Model (SM) fermion masses and mixings are explained via loop corrections are elegant ways to solve the SM flavor puzzle. Here we build such a model in the context of mini-split supersymmetry (SUSY) where both flavor and SUSY breaking occur at a scale of 1000 TeV. This model is consistent with the observed Higgs mass, unification, and dark matter as a weakly interacting massive particle. The high scale allows large flavor mixing among the sfermions, which provides part of the mechanism for radiative flavor generation. In the deep UV, all flavors are treated democratically, but at the SUSY-breaking scale, the third, second, and first generation Yukawa couplings are generated at tree level, one loop, and two loops, respectively. Save for one, all the dimensionless parameters in the theory are O(1), with the exception being a modest and technically natural tuning that explains both the smallness of the bottom Yukawa coupling and the largeness of the Cabibbo angle.

Baumgart, Matthew; Stolarski, Daniel; Zorawski, Thomas

2014-09-01

233

Study Astrophysics in Split!  

NASA Astrophysics Data System (ADS)

Beginning in autumn 2008 the first generation of astronomy master students will start a 2 year course in Astrophysics offered by the Physics department of the University of Split, Croatia (http://fizika.pmfst.hr/ astro/english/index.html). This unique master course in South-Eastern Europe, following the Bologna convention and given by astronomers from international institutions, offers a series of comprehensive lectures designed to greatly enhance students' knowledge and skills in astrophysics, and prepare them for a scientific career. An equally important aim of the course is to recognise the areas in which astronomy and astrophysics can serve as a national asset and to use them to prepare young people for real life challenges, enabling graduates to enter the modern society as a skilled and attractive work-force. I will present an example of a successful organisation of international astrophysics studies in a developing country, which aims to become a leading graduate program in astrophysics in the broader region. I will focus on the goals of the project showing why and in what way astronomy can be interesting for third world countries, what are the benefits for the individual students, nation and region, but also research, science and the astronomical community in general.

Krajnovic, D.

2006-08-01

234

[Choledocholithiasis--therapeutic splitting].  

PubMed

Despite new developments like chemolitholysis and extracorporeal shock wave lithotripsy, conventional cholecystectomy was the "gold standard" in the treatment of gallstones. The range of indications and the operative strategy were well standardized, although the management of common bile duct stones in gallstone disease was still under debate. For high-risk and elder patients endoscopic retrograde cholangio-pancreatography (ERCP), papillotomy and stone extraction was established, in younger patients the best management was questionable. According to better and more accurate preoperative tests like ultrasound and the ample evidence of the function of the papilla after endoscopic papillotomy the trend seemed to be the preoperative endoscopic bile duct clearance in all patients, just when the "bushfire" of laparoscopic cholecystectomy arised and until then praised standards were thrown overboard because of technical difficulties. Routine intraoperative cholangiography (IOC) was replaced by indicated selective IOC due to the lack of talent of many surgeons. Only the therapeutic concept of the removal of the stone-bearing gallbladder survived all new concepts and the debate of whether to perform routine IOC and whether to clear the bile ducts--pre-, intra- or postoperatively or primarily or secondarily convert to open cholecystectomy and bile duct revision. In the eye of a new "gold standard" and according to the literature and our own results we should standardize our management especially in the era of laparoscopic cholecystectomy as "therapeutical splitting" with indicated and selective preoperative ERCP and bile duct clearance offers the best results and facilitates minimally invasive surgery. PMID:8050295

Boeckl, O; Sungler, P; Heinerman, P M; Lexer, G

1994-05-01

235

Pain following spinal cord injury  

Microsoft Academic Search

Chronic pain is an important problem following spinal cord injury (SCI) and is a major impediment to effective rehabilitation. The reported prevalence of chronic SCI pain is variable but averages 65% with around one third of these people rating their pain as severe. The mechanisms responsible for the presence of pain are poorly understood. However, evidence from clinical observations and

PJ Siddall; JD Loeser

2001-01-01

236

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...

237

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation  

PubMed Central

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

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

2005-01-01

238

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

239

Epileptogenic temporal cavernous malformations: Operative strategies and postoperative seizure outcomes  

Microsoft Academic Search

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

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

2010-01-01

240

LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE  

EPA Science Inventory

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

241

The North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Fowle, Suzanne C.

242

Digital Subtraction Angiography for Arteriovenous Malformations in Stereotactic Radiosurgery  

Microsoft Academic Search

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

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

1996-01-01

243

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

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

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

244

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

245

Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)  

Microsoft Academic Search

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

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

2010-01-01

246

Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon  

PubMed Central

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

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

2013-01-01

247

Polymicrogyria: a common and heterogeneous malformation of cortical development.  

PubMed

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

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

248

Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas  

Microsoft Academic Search

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

I. Pascual-Castroviejo

1978-01-01

249

Pattern generation in caudal-lumbar and sacrococcygeal segments of the neonatal rat spinal cord.  

PubMed

The rhythmogenic capacity of the tail-innervating segments (L4-Co3) of the spinal cord was studied in isolated spinal cord and tail-spinal cord preparations of neonatal rats. Bath-applied serotonin/N-methyl-D-aspartate (NMDA) failed to produce a robust sacrococcygeal rhythmicity following midlumbar transection of the spinal cord. By contrast, a regular alternating left-right rhythm could be induced in the sacrococcygeal segments by application of noradrenaline (NA) or NA and NMDA before and after midlumbar transection of the cord. This rhythm was accelerated with the concentration of NMDA and was blocked by alpha1 or alpha2 adrenoceptor antagonists. The efferent bursts induced by NA/NMDA were accompanied by rhythmic tail movements produced by alternating activation of the left and right tail muscles and by coactivation of flexors, extensors, and abductors on a given side of the tail. This coactivation implies that reciprocal inhibitory pathways were not activated during the rhythm. Lesion experiments revealed that the rhythmogenic circuitry is distributed along all or most of the sacrococcygeal segments. The NA/NMDA-induced rhythm persisted in the isolated sacrococcygeal (S1-Co3), sacral (S1-S4), coccygeal (Co1-Co3), and smaller isolated regions of the sacrococcygeal cord. The rhythm also could be maintained in longitudinally split sacrococcygeal hemicords in which flexor, extensor, and abductor motoneurons are coactivated. This finding indicates that neither left/right nor flexor/extensor inhibitory interactions are required for rhythmogenesis in the sacrococcygeal cord. A slow rhythm lacking the alternating left-right pattern was induced by NA/NMDA in tail-innervating caudal lumbar segments of isolated L4-Co3 preparations. This rhythm was independent of the concurrent sacrococcygeal rhythm and the activity pattern of the tail musculature and it does not seem to contribute to rhythmic tail movements under these conditions. Comparative studies of the rhythm produced in the isolated caudal lumbar, sacrococcygeal cord, and caudal thoracic-rostral lumbar segments revealed that the S1-Co3 rhythm was faster than the L4-L6 pattern and slower than the T6-L3 rhythm. It is suggested that the caudal lumbar and sacrococcygeal segments of the cord are normally driven by the faster rostral lumbar central pattern generators. The relevance of the findings described above to pattern generation in the mammalian spinal cord is discussed. PMID:12163525

Gabbay, H; Delvolvé, I; Lev-Tov, A

2002-08-01

250

Apparatus Splits Glass Tubes Longitudinally  

NASA Technical Reports Server (NTRS)

Tubes split into half cylinders by hot-wire/thermal-shock method. Tube to be cut placed on notched jig in apparatus. Nichrome wire stretched between arms of pivoted carriage and oriented parallel to notch. Wire heated by electrical current while resting on tube. After heating for about 1 minute for each millimeter of thickness of glass, tube quenched in water and split by resulting thermal shock. Apparatus used to split tubes in sizes ranging from 3/8 in. in diameter by 1 in. long to 1 1/2 in. in diameter by 4 in. long.

Shaw, Ernest; Manahan, Robert O'neil

1993-01-01

251

Altered intrinsic properties of neuronal subtypes in malformed epileptogenic cortex.  

PubMed

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

George, Amanda L; Jacobs, Kimberle M

2011-02-16

252

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

PubMed Central

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

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

253

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

SciTech Connect

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

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

2013-10-15

254

Tablet Splitting: A Risky Practice  

MedlinePLUS

... the medicine slowly. Splitting these tablets destroys the coating, which means you might absorb the medicine too ... Continuing Education Inspections/Compliance State & Local Officials Consumers Industry Health Professionals FDA Archive Links on this page:

255

Erythropoietin in spinal cord injury  

PubMed Central

Spinal cord injury (SCI) is a devastating condition for individual patients and costly for health care systems requiring significant long-term expenditures. Cytokine erythropoietin (EPO) is a glycoprotein mediating cytoprotection in a variety of tissues, including spinal cord, through activation of multiple signaling pathways. It has been reported that EPO exerts its beneficial effects by apoptosis blockage, reduction of inflammation, and restoration of vascular integrity. Neuronal regeneration has been also suggested. In the present review, the pathophysiology of SCI and the properties of endogenous or exogenously administered EPO are briefly described. Moreover, an attempt to present the current traumatic, ischemic and inflammatory animal models that mimic SCI is made. Currently, a clearly effective pharmacological treatment is lacking. It is highlighted that administration of EPO or other recently generated EPO analogues such as asialo-EPO and carbamylated-EPO demonstrate exceptional preclinical characteristics, rendering the evaluation of these tissue-protective agents imperative in human clinical trials. PMID:19030901

Birbilis, Theodossios A.

2008-01-01

256

Entropy Splitting and Numerical Dissipation  

NASA Technical Reports Server (NTRS)

A rigorous stability estimate for arbitrary order of accuracy of spatial central difference schemes for initial-boundary value problems of nonlinear symmetrizable systems of hyperbolic conservation laws was established recently by Olsson and Oliger (1994) and Olsson (1995) and was applied to the two-dimensional compressible Euler equations for a perfect gas by Gerritsen and Olsson (1996) and Gerritsen (1996). The basic building block in developing the stability estimate is a generalized energy approach based on a special splitting of the flux derivative via a convex entropy function and certain homogeneous properties. Due to some of the unique properties of the compressible Euler equations for a perfect gas, the splitting resulted in the sum of a conservative portion and a non-conservative portion of the flux derivative. hereafter referred to as the "Entropy Splitting." There are several potential desirable attributes and side benefits of the entropy splitting for the compressible Euler equations that were not fully explored in Gerritsen and Olsson. The paper has several objectives. The first is to investigate the choice of the arbitrary parameter that determines the amount of splitting and its dependence on the type of physics of current interest to computational fluid dynamics. The second is to investigate in what manner the splitting affects the nonlinear stability of the central schemes for long time integrations of unsteady flows such as in nonlinear aeroacoustics and turbulence dynamics. If numerical dissipation indeed is needed to stabilize the central scheme, can the splitting help minimize the numerical dissipation compared to its un-split cousin? Extensive numerical study on the vortex preservation capability of the splitting in conjunction with central schemes for long time integrations will be presented. The third is to study the effect of the non-conservative proportion of splitting in obtaining the correct shock location for high speed complex shock-turbulence interactions. The fourth is to determine if this method can be extended to other physical equations of state and other evolutionary equation sets. If numerical dissipation is needed, the Yee, Sandham, and Djomehri (1999) numerical dissipation is employed. The Yee et al. schemes fit in the Olsson and Oliger framework.

Yee, H. C.; Vinokur, M.; Djomehri, M. J.

1999-01-01

257

Tethered Cord Syndrome in Adults  

Microsoft Academic Search

Summary  ¶?Background. The tethered cord syndrome (TCS) consists of an abnormally low conus medullaris tethered by a thickened filum terminale or\\u000a various forms of spinal dysraphism. The adult variant of the syndrome seems not to be as rare as once thought.\\u000a \\u000a ?Method. This study includes 11 patients with a TCS. Clinical, radiological findings and outcome were reviewed in these adult patients

K. M. Akay; Y. Er?ahin; Y. Çak?r

2000-01-01

258

Sex Cord-Stromal Tumors  

Microsoft Academic Search

\\u000a Sex cord-stromal tumors are rare neoplasms which most commonly occur in the ovary. Granulosa cell tumors are the most common\\u000a histologic subtype. Presenting symptoms and signs may be specific to this group of tumors, and treatment is determined by\\u000a many factors, including age and histologic subtype. Appropriate therapy usually includes surgery, and chemotherapy often plays\\u000a a role. Much progress has

Jubilee Brown; David M. Gershenson

259

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

260

An extended split-radix FFT algorithm  

Microsoft Academic Search

An extended split-radix fast Fourier transform (FFT) algorithm is proposed. The extended split-radix FFT algorithm has the same asymptotic arithmetic complexity as the conventional split-radix FFT algorithm. Moreover, this algorithm has the advantage of fewer loads and stores than either the conventional split-radix FFT algorithm or the radix-4 FFT algorithm

Daisuke Takahashi

2001-01-01

261

[Traumatic recurrence of idiopathic spinal cord herniation].  

PubMed

Idiopathic spinal cord herniation is a rare cause of thoracic myelopathy and its recurrence is even more infrequent. Cord herniation is through an anterior dural defect in thoracic spine with unknown causes. Symptomatic cases must be surgically treated to reduce the hernia and seal the defect to prevent recurrences. We report a patient presenting a Brown-Séquard syndrome secondary to a D5 spinal cord herniation treated successfully and its posterior traumatic recurrence. PMID:23453309

Lorente-Muñoz, Asís; Cortés-Franco, Severiano; Moles-Herbera, Jesús; Casado-Pellejero, Juan; Rivero-Celada, David; Alberdi-Viñas, Juan

2013-01-01

262

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation  

PubMed Central

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

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

2012-01-01

263

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

PubMed

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

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

2012-08-01

264

Radiotherapy for intraarticular venous malformations of the knee.  

PubMed

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

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

2014-11-01

265

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

PubMed

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

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

2014-05-01

266

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment  

PubMed Central

Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics. PMID:25629087

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

2015-01-01

267

An unusual presentation of type II Abernethy malformation.  

PubMed

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

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

2014-08-01

268

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.  

PubMed

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

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

2015-02-01

269

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

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

2011-01-01

270

Uterine tumors resembling ovarian sex cord tumors are polyphenotypic neoplasms with true sex cord differentiation  

Microsoft Academic Search

In this study, we present the clinicopathologic features and immunophenotypic characteristics of five cases of uterine tumors resembling ovarian sex cord tumors and three cases of endometrial stromal tumors with sex cord-like elements, with emphasis on immunohistochemical markers of sex cord differentiation. The mean patient age was 42 years (range 19–69 years), and vaginal bleeding was the most common clinical

Julie A Irving; Silvestro Carinelli; Jaime Prat

2006-01-01

271

29 CFR 1926.908 - Use of detonating cord.  

Code of Federal Regulations, 2010 CFR

...in which the explosive core is dry. (f) All detonating cord...short-interval-delay electric blasting caps are used with detonating cord...i) When connecting a blasting cap or an electric blasting cap to detonating cord, the cap...

2010-07-01

272

Testosterone Plus Finasteride Treatment After Spinal Cord Injury  

ClinicalTrials.gov

Spinal Cord Injury; Spinal Cord Injuries; Trauma, Nervous System; Wounds and Injuries; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Genital Diseases, Male

2015-03-11

273

How Are Brain and Spinal Cord Tumors in Children Diagnosed?  

MedlinePLUS

... spinal cord tumors in children staged? How are brain and spinal cord tumors diagnosed in children? Brain ... resonance angiography (MRA) or computerized tomographic angiography (CTA). Brain or spinal cord tumor biopsy Imaging tests such ...

274

Sexuality for women with spinal cord injury.  

PubMed

The authors conducted a review of the literature on women's sexuality after spinal cord injury, including studies from 1990 to 2011 retrieved from PubMed. Several facets of a woman's sexuality are negatively affected by after spinal cord injury, and consequently, sexual satisfaction has been shown to decrease, which also negatively affects quality of life. Neurogenic bladder is common after spinal cord injury, and the resulting urinary incontinence is a top therapeutic priority of this population. To improve sexual satisfaction and quality of life for women with spinal cord injury, future research needs to explore the effects of urinary incontinence on various aspects of sexuality. PMID:24325679

Cramp, Jackie D; Courtois, Frédérique J; Ditor, David S

2015-01-01

275

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. PMID:23070351

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

2012-01-01

276

Epidemiology, diagnostics and treatment of vascular tumours and malformations.  

PubMed

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

Wójcicki, Piotr; Wójcicka, Karolina

2014-01-01

277

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

278

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

PubMed Central

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

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

1988-01-01

279

Ultrasound diagnosis and perinatal management of surgically correctable fetal malformations.  

PubMed

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

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

1984-01-01

280

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

281

Asymmetric crying facies: a possible marker for congenital malformations.  

PubMed

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

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

2005-10-01

282

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

283

Malformations of cortical development: clinical features and genetic causes.  

PubMed

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

Guerrini, Renzo; Dobyns, William B

2014-07-01

284

Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis  

SciTech Connect

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

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

1995-12-31

285

Sonographic markers for early diagnosis of fetal malformations  

PubMed Central

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

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

2013-01-01

286

Acute Porphyria in a Patient with Arnold Chiari Malformation  

PubMed Central

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

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

2015-01-01

287

Guidelines for the treatment of head and neck venous malformations  

PubMed Central

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

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

2013-01-01

288

Intradural spinal cord tumor presenting as a subarachnoid hemorrhage: magnetic resonance imaging diagnosis.  

PubMed

Negative findings on four-vessel angiography after a subarachnoid hemorrhage are seen in 5 to 30% of patients. A previously silent lesion in the spinal canal may be responsible for the ictus in a small percentage of this group. The etiological factors include tumors and arteriovenous malformations; however, investigations of such lesions have been limited to patients with signs and symptoms of spinal cord or nerve root pathological processes. This report describes the management of a 56-year-old woman with clinical findings typical of an aneurysmal subarachnoid hemorrhage and negative findings on cerebral angiography, in whom magnetic resonance imaging with gadolinium enhancement revealed an intradural extramedullary cervical schwannoma. For this reason, cervicothoracic magnetic resonance imaging with gadolinium enhancement should be considered as an adjunctive scanning examination in all patients with a subarachnoid hemorrhage and negative findings on angiography. PMID:2234370

Chalif, D J; Black, K; Rosenstein, D

1990-10-01

289

Haemangiomas and vascular malformations of the limb in children.  

PubMed

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

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

2007-06-01

290

Baryon asymmetry and split SUSY  

NASA Astrophysics Data System (ADS)

It is one of the greatest mysteries that the baryon asymmetry in our universe is so small. It is argued that it may originate from some profound physics beyond the standard model. We investigate the Affleck-Dine baryogenesis in split supersymmetry, and find that the smallness of the baryon asymmetry is directly related to the hierarchy between the supersymmetry breaking squark/slepton masses and the weak scale. Put simply, the baryon asymmetry is small because of the split mass spectrum. LHC may prove or falsify our scenario.

Kasuya, Shinta

2005-12-01

291

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

292

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. PMID:22665787

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

2012-01-01

293

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

2012-06-29

294

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

PubMed

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

Geerinckx, I; Willemsen, W; Hanselaar, T

2001-12-10

295

Intramedullary Tuberculoma of the Spinal Cord  

PubMed Central

In the differential diagnosis of intramedullary masses or tumors of the spinal cord, tuberculoma is an often overlooked possibility. Although rare, this entity should be considered in the differential gamut of spinal cord lesions even in the presence of a normal chest x-ray. ImagesFigure 1Figure 2 PMID:439153

Norman, Calvin H.; Pacis, Andresito B.

1979-01-01

296

Nutrition of People with Spinal Cord Injuries  

Technology Transfer Automated Retrieval System (TEKTRAN)

This conference proceeding summarizes current knowledge about the nutritional status and needs of the spinal cord injured patient. Topics covered include the aspects of spinal cord injury that influence nutrient intakes and status, and the nutrients most likely to be problematic in this diverse gro...

297

Family-directed umbilical cord blood banking.  

PubMed

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. PMID:21750089

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

2011-11-01

298

Tethered Cord Syndrome: An Updated Review  

Microsoft Academic Search

Tethered cord syndrome (TCS) is a diverse clinical entity characterized by symptoms and signs which are caused by excessive tension on the spinal cord. The majority of cases are related to spinal dysraphism. TCS can present in any age group, and presentations differ according to the underlying pathologic condition and age, with pain, cutaneous signs, orthopedic deformities and neurological deficits

Sean M. Lew; Karl F. Kothbauer

2007-01-01

299

Vocal cord hematomas complicating anticoagulant therapy.  

PubMed

Described are the cases of two patients who presented with vocal cord hematomas consequent to poor control of anticoagulation. Both patients presented with hoarseness and cough. One required intubation due to respiratory obstruction. Vocal cord hematomas should be considered in patients who present with upper airway symptoms while anticoagulated. PMID:6742561

Kerr, H D; Kwaselow, A

1984-07-01

300

How Is Spinal Cord Injury (SCI) Diagnosed?  

MedlinePLUS

... National Institute of Neurological Disorders and Stroke. (2012). Spinal cord injury: Hope through research . Retrieved June 26, 2012, from ... sci.htm [top] University Specialty Clinics. (n.d.). Spinal cord injury . Retrieved June 26, 2012, from http://neurosurgery.med. ...

301

Cellular Scaling Rules for Primate Spinal Cords  

PubMed Central

The spinal cord can be considered a major sensorimotor interface between the body and the brain. How does the spinal cord scale with body and brain mass, and how are its numbers of neurons related to the number of neurons in the brain across species of different body and brain sizes? Here we determine the cellular composition of the spinal cord in eight primate species and find that its number of neurons varies as a linear function of cord length, and accompanies body mass raised to an exponent close to 1/3. This relationship suggests that the extension, mass and number of neurons that compose the spinal cord are related to body length, rather than to body mass or surface. Moreover, we show that although brain mass increases linearly with cord mass, the number of neurons in the brain increases with the number of neurons in the spinal cord raised to the power of 1.7. This faster addition of neurons to the brain than to the spinal cord is consistent with current views on how larger brains add complexity to the processing of environmental and somatic information. PMID:20926855

Burish, Mark J.; Peebles, J. Klint; Baldwin, Mary K.; Tavares, Luciano; Kaas, Jon H.; Herculano-Houzel, Suzana

2010-01-01

302

Heegaard splittings of knot exteriors  

Microsoft Academic Search

The goal of this paper is to offer a comprehensive exposition of the current knowledge about Heegaard splittings of exteriors of knots in the 3-sphere. The exposition is done with a historical perspective as to how ideas developed and by whom. Several new notions are introduced and some facts about them are proved. In particular the concept of a 1\\/n-primitive

Yoav Moriah

2006-01-01

303

Efficiency of split questionnaire surveys  

Microsoft Academic Search

We consider a general design that allows information for different patterns, or sets, of data items to be collected from different sample units, which we call a Split Questionnaire Design (SQD). While SQDs have been historically used to accommodate constraints on respondent burden, this paper shows they can also be an efficient design option. The efficiency of a design can

James O. Chipperfield; David G. Steel

2011-01-01

304

Spin splittings in heavy quarkonia  

SciTech Connect

The spin-dependent potentials in the formalism of Eichten and Feinberg and Gromes are generalized. Consistency of the observed spin splittings in the J/psi and UPSILON systems with QCD imposes stringent constraints on the type of nonperturbative spin-dependent forces allowed.

Pantaleone, J.; Tye, S.H.; Ng, Y.J.

1986-02-01

305

Bioengineered scaffolds for spinal cord repair.  

PubMed

Spinal cord injury can lead to devastating and permanent loss of neurological function, affecting all levels below the site of trauma. Unfortunately, the injured adult mammalian spinal cord displays little regenerative capacity and little functional recovery in large part due to a tissue environment that is nonpermissive for regenerative axon growth. Artificial tissue repair scaffolds may provide a physical guide to allow regenerative axon growth that bridges the lesion cavity and restores functional neural connectivity. By integrating different strategies, including the use of various biomaterials and microstructures as well as incorporation of bioactive molecules and living cells, combined or synergistic effects for spinal cord repair through regenerative axon growth may be achieved. This article briefly reviews the development of bioengineered scaffolds for spinal cord repair, focusing on spinal cord injury and the subsequent cellular response, scaffold materials, fabrication techniques, and current therapeutic strategies. Key issues and challenges are also identified and discussed along with recommendations for future research. PMID:21338266

Wang, Mindan; Zhai, Peng; Chen, Xiongbiao; Schreyer, David J; Sun, Xiaodan; Cui, Fuzhai

2011-06-01

306

Spinal Cord Ischemia Secondary to Hypovolemic Shock  

PubMed Central

A 44-year-old male presented with symptoms of spinal cord compression secondary to metastatic prostate cancer. An urgent decompression at the cervical-thoracic region was performed, and there were no complications intraoperatively. Three hours postoperatively, the patient developed acute bilateral lower-limb paralysis (motor grade 0). Clinically, he was in class 3 hypovolemic shock. An urgent magnetic resonance imaging (MRI) was performed, showing no epidural hematoma. He was managed aggressively with medical therapy to improve his spinal cord perfusion. The patient improved significantly, and after one week, he was able to regain most of his motor functions. Although not commonly reported, spinal cord ischemia post-surgery should be recognized early, especially in the presence of hypovolemic shock. MRI should be performed to exclude other potential causes of compression. Spinal cord ischemia needs to be managed aggressively with medical treatment to improve spinal cord perfusion. The prognosis depends on the severity of deficits, and is usually favorable. PMID:25558328

Kapoor, Siddhant; Koh, Roy KM; Yang, Eugene WR; Hee, Hwan-Tak

2014-01-01

307

Spinal cord ischemia secondary to hypovolemic shock.  

PubMed

A 44-year-old male presented with symptoms of spinal cord compression secondary to metastatic prostate cancer. An urgent decompression at the cervical-thoracic region was performed, and there were no complications intraoperatively. Three hours postoperatively, the patient developed acute bilateral lower-limb paralysis (motor grade 0). Clinically, he was in class 3 hypovolemic shock. An urgent magnetic resonance imaging (MRI) was performed, showing no epidural hematoma. He was managed aggressively with medical therapy to improve his spinal cord perfusion. The patient improved significantly, and after one week, he was able to regain most of his motor functions. Although not commonly reported, spinal cord ischemia post-surgery should be recognized early, especially in the presence of hypovolemic shock. MRI should be performed to exclude other potential causes of compression. Spinal cord ischemia needs to be managed aggressively with medical treatment to improve spinal cord perfusion. The prognosis depends on the severity of deficits, and is usually favorable. PMID:25558328

Oh, Jacob Yl; Kapoor, Siddhant; Koh, Roy Km; Yang, Eugene Wr; Hee, Hwan-Tak

2014-12-01

308

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

309

Rehabilitation of spinal cord injuries.  

PubMed

Spinal cord injury (SCI) is the injury of the spinal cord from the foramen magnum to the cauda equina which occurs as a result of compulsion, incision or contusion. The most common causes of SCI in the world are traffic accidents, gunshot injuries, knife injuries, falls and sports injuries. There is a strong relationship between functional status and whether the injury is complete or not complete, as well as the level of the injury. The results of SCI bring not only damage to independence and physical function, but also include many complications from the injury. Neurogenic bladder and bowel, urinary tract infections, pressure ulcers, orthostatic hypotension, fractures, deep vein thrombosis, spasticity, autonomic dysreflexia, pulmonary and cardiovascular problems, and depressive disorders are frequent complications after SCI. SCI leads to serious disability in the patient resulting in the loss of work, which brings psychosocial and economic problems. The treatment and rehabilitation period is long, expensive and exhausting in SCI. Whether complete or incomplete, SCI rehabilitation is a long process that requires patience and motivation of the patient and relatives. Early rehabilitation is important to prevent joint contractures and the loss of muscle strength, conservation of bone density, and to ensure normal functioning of the respiratory and digestive system. An interdisciplinary approach is essential in rehabilitation in SCI, as in the other types of rehabilitation. The team is led by a physiatrist and consists of the patients' family, physiotherapist, occupational therapist, dietician, psychologist, speech therapist, social worker and other consultant specialists as necessary. PMID:25621206

Nas, Kemal; Yazmalar, Levent; ?ah, Volkan; Ayd?n, Abdulkadir; Öne?, Kadriye

2015-01-18

310

Cool covered sky-splitting spectrum-splitting FK  

NASA Astrophysics Data System (ADS)

Placing a plane mirror between the primary lens and the receiver in a Fresnel Köhler (FK) concentrator gives birth to a quite different CPV system where all the high-tech components sit on a common plane, that of the primary lens panels. The idea enables not only a thinner device (a half of the original) but also a low cost 1-step manufacturing process for the optics, automatic alignment of primary and secondary lenses, and cell/wiring protection. The concept is also compatible with two different techniques to increase the module efficiency: spectrum splitting between a 3J and a BPC Silicon cell for better usage of Direct Normal Irradiance DNI, and sky splitting to harvest the energy of the diffuse radiation and higher energy production throughout the year. Simple calculations forecast the module would convert 45% of the DNI into electricity.

Mohedano, Rubén; Miñano, Juan C.; Benitez, Pablo; Buljan, Marina; Chaves, Julio; Falicoff, Waqidi; Hernandez, Maikel; Sorgato, Simone

2014-09-01

311

Cool covered sky-splitting spectrum-splitting FK  

SciTech Connect

Placing a plane mirror between the primary lens and the receiver in a Fresnel Köhler (FK) concentrator gives birth to a quite different CPV system where all the high-tech components sit on a common plane, that of the primary lens panels. The idea enables not only a thinner device (a half of the original) but also a low cost 1-step manufacturing process for the optics, automatic alignment of primary and secondary lenses, and cell/wiring protection. The concept is also compatible with two different techniques to increase the module efficiency: spectrum splitting between a 3J and a BPC Silicon cell for better usage of Direct Normal Irradiance DNI, and sky splitting to harvest the energy of the diffuse radiation and higher energy production throughout the year. Simple calculations forecast the module would convert 45% of the DNI into electricity.

Mohedano, Rubén; Chaves, Julio; Falicoff, Waqidi; Hernandez, Maikel; Sorgato, Simone [LPI, Altadena, CA, USA and Madrid (Spain); Miñano, Juan C.; Benitez, Pablo [LPI, Altadena, CA, USA and Madrid, Spain and Universidad Politécnica de Madrid (UPM), Madrid (Spain); Buljan, Marina [Universidad Politécnica de Madrid (UPM), Madrid (Spain)

2014-09-26

312

Symptoms of Sleep Disordered Breathing in Children with Craniofacial Malformations  

PubMed Central

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

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

2014-01-01

313

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

PubMed

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

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

2015-03-01

314

Micropropagation Splitting of Malus microcuttings enhances rooting  

E-print Network

Micropropagation Splitting of Malus microcuttings enhances rooting J Puente, JA Marín* CSIC shoots. Malus x domestica / splitting / rooting / in vitro / micropropagation Résumé — La fente des microbouture. Malus x domestica / fente / enracinement/ in vitro / micropropagation INTRODUCTION Jork 9 (J9

Paris-Sud XI, Université de

315

7 CFR 51.2736 - Split.  

Code of Federal Regulations, 2010 CFR

...VEGETABLES AND OTHER PRODUCTS 1,2 (INSPECTION, CERTIFICATION, AND STANDARDS) United States Standards for Grades of Shelled Spanish Type Peanuts Definitions § 51.2736 Split. Split means the separated half of a peanut...

2010-01-01

316

Late presentation of congenital cystic adenomatoid malformation of the lung  

SciTech Connect

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

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

1984-06-01

317

[Some features of the nose in craniofacial malformations].  

PubMed

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

Arnaud, E

2014-12-01

318

Polypoid Arteriovenous Malformation Presenting with Jejunojejunal Intussusceptions in an Adult  

PubMed Central

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

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

2014-01-01

319

Treatment of vascular malformation of the gastrointestinal tract  

NASA Astrophysics Data System (ADS)

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

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

2000-06-01

320

Milestones in umbilical cord blood transplantation.  

PubMed

Much has been learned about umbilical cord blood (UCB) since the first human cord blood transplant was performed back in 1988. Cord blood banks have been established worldwide for the collection, cryopreservation and distribution of UCB for allogeneic haematopoietic stem cell transplantation. UCB has now become one of the most commonly used sources of haematopoietic stem cells for allogeneic transplantation. Today, a global network of cord blood banks and transplant centres has been established with a large common inventory, allowing for more than 20000 transplants worldwide in children and adults with severe haematological diseases. Several studies have been published on UCB transplant, assessing risk factors such as cell dose and human leucocyte antigen mismatch. New strategies are ongoing to facilitate engraftment and reduce transplant-related mortality and include the use of reduced-intensity conditioning regimen, intra-bone injection of cord blood cells, double cord blood transplants or ex vivo expansion of cord blood cells. The absence of ethical concern and the unlimited supply of cells explain the increasing interest of using UCB for developing regenerative medicine. PMID:21726206

Gluckman, Eliane; Ruggeri, Annalisa; Volt, Fernanda; Cunha, Renato; Boudjedir, Karim; Rocha, Vanderson

2011-08-01

321

Visualization of Splitting and Merging Processes  

E-print Network

of tree processes include cell mitosis, the Unix Ã?Ã? without a Ã? Ã? and broadcast communication with no ac- knowledgments. In cell mitosis, cells split in a branching process and die at the leaves. After a split a duplicate of itself by calling Ã?Ã? . Unlike splitting cells in mitosis, the original Unix process retains its

Texas at San Antonio, University of

322

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

323

Restoring walking after spinal cord injury.  

PubMed

One of the most obvious deficits following a spinal cord injury is the difficulty in walking, forcing many patients to use wheelchairs for locomotion. Over the past decade considerable effort has been directed at promoting the recovery of walking and to find effective treatments for spinal cord injury. Advances in our knowledge of the neuronal control of walking have led to the development of a promising rehabilitative strategy in patients with partial spinal cord injury, namely treadmill training with partial weight support. The current focus is on developing more efficient training protocols and automating the training to reduce the physical demand for the therapists. Mechanisms underlying training-induced improvements in walking have been revealed to some extent in animal studies. Another strategy for improving the walking in spinal cord injured patients is the use of functional electric stimulation of nerves and muscles to assist stepping movements. This field has advanced significantly over the past decade as a result of developments in computer technology and the miniaturization of electronics. Finally, basic research on animals with damaged spinal cords has focused on enhancing walking and other motor functions by promoting growth and regeneration of damaged axons. Numerous important findings have been reported yielding optimism that techniques for repairing the injured spinal cord will be developed in the near future. However, at present no strategy involving direct treatment of the injured spinal cord has been established for routine use in spinal cord injured patients. It now seems likely that any successful protocol in humans will require a combination of a treatment to promote re-establishing functional connections to neuronal networks in the spinal cord and specialized rehabilitation training to shape the motor patterns generated by these networks for specific behavioral tasks. PMID:15201036

Fouad, Karim; Pearson, Keir

2004-06-01

324

Learning from the spinal cord: How the study of spinal cord plasticity informs our view of learning  

E-print Network

Review Learning from the spinal cord: How the study of spinal cord plasticity informs our view o Article history: Available online xxxx Keywords: Spinal cord Instrumental conditioning Pavlovian training can induce a lasting change in spinal cord function. A framework for the study of learning

Grau, James

325

Nanomedicine for Treating Spinal Cord Injury  

PubMed Central

Spinal cord injury results in significant mortality and morbidity, lifestyle changes, and difficult rehabilitation. Treatment of spinal cord injury is challenging because the spinal cord is both complex to treat acutely and difficult to regenerate. Nanomaterials can be used to provide effective treatments; their unique properties can facilitate drug delivery to the injury site, enact as neuroprotective agents, or provide platforms to stimulate regrowth of damaged tissues. We review recent uses of nanomaterials including nanowires, micelles, nanoparticles, liposomes, and carbon-based nanomaterials for neuroprotection in the acute phase. We also review the design and neural regenerative application of electrospun scaffolds, conduits, and self-assembling peptide scaffolds. PMID:23945984

Tyler, Jacqueline Y.; Xu, Xiao-Ming; Cheng, Ji-Xin

2015-01-01

326

Nanomedicine for treating spinal cord injury  

NASA Astrophysics Data System (ADS)

Spinal cord injury results in significant mortality and morbidity, lifestyle changes, and difficult rehabilitation. Treatment of spinal cord injury is challenging because the spinal cord is both complex to treat acutely and difficult to regenerate. Nanomaterials can be used to provide effective treatments; their unique properties can facilitate drug delivery to the injury site, enact as neuroprotective agents, or provide platforms to stimulate regrowth of damaged tissues. We review recent uses of nanomaterials including nanowires, micelles, nanoparticles, liposomes, and carbon-based nanomaterials for neuroprotection in the acute phase. We also review the design and neural regenerative application of electrospun scaffolds, conduits, and self-assembling peptide scaffolds.

Tyler, Jacqueline Y.; Xu, Xiao-Ming; Cheng, Ji-Xin

2013-09-01

327

Relativistic Split-Cavity Oscillator  

E-print Network

Using the method of small signal analysis, we study the application potential of relativistic electron beams in split-cavity oscillators (SCO's). A beam-energy change in the SCO as a function of the initial energy of a relativistic beam is considered. It is shown that the small-signal analysis method enables adequate evaluation of SCO parameters needed for effective modulation of a relativistic beam in a split cavity and for HPM generation using SCO's. The range of energies is found for which the effect of self-modulation of the beam density in SCO structures is most pronounced. It is also shown that for beam currents at which the space charge has little effect on the motion of electrons in a beam, the beam in a split-cavity oscillator is effectively self-modulated at beam energies less than ~300-400 keV. The self-modulation drops sharply in the range of energies from 250 to 400 keV, but as the beam current is increased, the effective beam self-modulation becomes appreciable in this range too, as well as even...

Baryshevsky, V G

2014-01-01

328

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

EPA Science Inventory

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

329

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

PubMed Central

Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes1. Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations2. Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding disrupted developmental processes and candidate genes. Here we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework. PMID:19778712

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

2009-01-01

330

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

Microsoft Academic Search

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. 14 refs., 6 figs., 1 tab.

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

1995-01-01

331

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

USGS Publications Warehouse

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

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

2001-01-01

332

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

PubMed

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

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

2013-09-01

333

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

Microsoft Academic Search

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

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

1997-01-01

334

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

Microsoft Academic Search

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

Ganeshwaran H. Mochida

2004-01-01

335

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

Microsoft Academic Search

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

Ganeshwaran H. Mochida

2005-01-01

336

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

SciTech Connect

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. 14 refs., 6 figs., 1 tab.

Ramer, J.C.; Ladda, R.L. [Pennsylvania State Univ. Hospital, Hershey, PA (United States); Lin, A.E. [Francisco Children`s Hospital, Boston, MA (United States)] [and others

1995-07-03

337

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

Microsoft Academic Search

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely

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

1992-01-01

338

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

Microsoft Academic Search

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

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

2011-01-01

339

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

Microsoft Academic Search

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

U. W. Buettner; M. Stöhr; E. Koletzki

1983-01-01

340

Spinal Cord Injury Medicine. 3. Rehabilitation Phase After Acute Spinal Cord Injury  

Microsoft Academic Search

Kirshblum SC, Priebe MM, Ho CH, Scelza WM, Chiodo AE, Wuermser LA. Spinal cord injury medicine. 3. Rehabilitation phase after acute spinal cord injury.This self-directed learning module highlights the rehabilitation aspects of care for people with traumatic spinal cord injury (SCI). It is part of the chapter on SCI medicine in the Self-Directed Physiatric Education Program for practitioners and trainees

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

2007-01-01

341

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

PubMed

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

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

2008-01-01

342

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations  

PubMed Central

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

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

2014-01-01

343

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations  

PubMed Central

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

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

2013-01-01

344

Dural arteriovenous malformations in the anterior cranial fossa.  

PubMed

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

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

1994-01-01

345

Morphological and functional aspects of progenitors perturbed in cortical malformations  

PubMed Central

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

Bizzotto, Sara; Francis, Fiona

2015-01-01

346

Cardiovascular malformations and organic solvent exposure during pregnancy in Finland  

SciTech Connect

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

Tikkanen, J.; Heinonen, O.P.

1988-01-01

347

The surgical management and outcome of congenital mediastinal malformations  

PubMed Central

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

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

2012-01-01

348

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

PubMed

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

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

2014-08-01

349

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

PubMed

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

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

2011-02-01

350

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

PubMed

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

Toledo, Luís Felipe; Ribeiro, Ricardo S

2009-09-01

351

Weight Management Following SCI (Spinal Cord Injury)  

MedlinePLUS

... changes, participation in physical activities, and long-term planning. As a person with spinal cord injury (SCI), you can benefit in many ways from a healthy weight management program. You may help... ... lower your risk for ...

352

Spinal cord implants for nerve regeneration  

E-print Network

It has only been in the last couple decades that the potential for regeneration in the spinal cord became accepted. However, there is still no proven method for enabling this regeneration. An implant model was developed ...

Abbaschian, Lara Suzanne, 1979-

2004-01-01

353

Brain and Spinal Cord Tumors in Adults  

MedlinePLUS

... saved articles window. My Saved Articles » My ACS » Brain and Spinal Cord Tumors in Adults Download Printable ... the topics below to get started. What Is Brain/CNS Tumors In Adults? What is cancer? What ...

354

Brain and Spinal Cord Tumors in Children  

MedlinePLUS

... saved articles window. My Saved Articles » My ACS » Brain and Spinal Cord Tumors in Children Download Printable ... the topics below to get started. What Is Brain/CNS Tumors In Children? What is cancer? What ...

355

Tracheostomy in Spinal Cord Injured Patients  

PubMed Central

Patients with cervical spinal cord injury frequently need prolonged mechanical ventilation as a result of worsening pulmonary vital capacity due to paralysis of respiratory muscles, severe impairment of tracheobronchial secretions clearance and high incidence of respiratory complications like pneumonia or atelectasis. Patients with thoracic spinal cord injury may need mechanical ventilation due to associate injuries. For these reasons, tracheostomy is frequently performed in these patients, more frequently when the spinal cord injury is at cervical level. Percutaneous technique, performed in the ICU, should be considered the preferred procedure for performing elective tracheostomies in spinal cord injured patients. Tracheostomy should be implemented as soon as possible in SCI patients they require prolonged mechanical ventilation. Tracheostomy can be performed just after anterolateral cervical spine fixation surgery. Tracheostomy can be removed when no longer needed without major complications. PMID:23905031

Ganuza, Javier-Romero; Oliviero, Antonio

2011-01-01

356

Endothelial cell migration directs testis cord formation.  

PubMed

While the molecular cues initiating testis determination have been identified in mammals, the cellular interactions involved in generating a functional testis with cord and interstitial compartments remain poorly understood. Previous studies have shown that testis cord formation relies on cell migration from the adjacent mesonephros, and have implicated immigrant peritubular myoid cells in this process. Here, we used recombinant organ culture experiments to show that immigrant cells are endothelial, not peritubular myoid or other interstitial cells. Inhibition of endothelial cell migration and vascular organisation using a blocking antibody to VE-cadherin, also disrupted the development of testis cords. Our data reveal that migration of endothelial cells is required for testis cord formation, consistent with increasing evidence of a broader role for endothelial cells in establishing tissue architecture during organogenesis. PMID:19041858

Combes, Alexander N; Wilhelm, Dagmar; Davidson, Tara; Dejana, Elisabetta; Harley, Vincent; Sinclair, Andrew; Koopman, Peter

2009-02-01

357

Interactive Fly: CNS and Ventral Cord Genes  

NSDL National Science Digital Library

A list and description of Drosophila genes involved in CNS and ventral cord formation, subdivided by family and cellular location (i.e., antennapedia family or cell surface ligands). A subset of the Interactive Fly collection.

PhD Thomas B Brody (NIH Laboratory of Neurochemistry)

2006-12-13

358

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

USGS Publications Warehouse

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

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

2000-01-01

359

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

PubMed Central

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

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

2002-01-01

360

Antioxidant Therapies for Acute Spinal Cord Injury  

Microsoft Academic Search

Summary  One of the most investigated molecular mechanisms involved in the secondary pathophysiology of acute spinal cord injury (SCI)\\u000a is free radical-induced, iron-catalyzed lipid peroxidation (LP) and protein oxidative\\/nitrative damage to spinal neurons,\\u000a glia, and microvascular cells. The reactive nitrogen species peroxynitrite and its highly reactive free radicals are key initiators\\u000a of LP and protein nitration in the injured spinal cord,

Edward D. Hall

2011-01-01

361

Power and phase spectra for detonating cord  

SciTech Connect

A simple mathematical model is presented for a detonating cord seismic source. This model can be used for most configurations of detonating cord. Power and phase spectra are calculated. Numerical results are presented for a straight strand detonated in the center. Time delays associated with the initiation of vertically travelling energy at low frequencies can be determined from the phase spectra. 2 references, 5 figures.

Burkhard, N.R.

1983-11-01

362

Retinoic acid signaling in spinal cord development.  

PubMed

Retinoic acid (RA) is an important signaling molecule mediating intercellular communication through vertebrate development. Here, we present and discuss recent information on the roles of the RA signaling pathway in spinal cord development. RA is an important player in the patterning and definition of the spinal cord territory from very early stages of development, even before the appearance of the neural plate and further serves a role in the patterning of the spinal cord both along the dorsoventral and anteroposterior axes, particularly in the promotion of neuronal differentiation. It is thus required to establish a variety of neuronal cell types at specific positions of the spinal cord. The main goal of this review is to gather information from vertebrate models, including fish, frogs, chicken and mice, and to put this information in a comparative context in an effort to visualize how the RA pathway was incorporated into the evolving vertebrate spinal cord and to identify mechanisms that are both common and different in the various vertebrate models. In doing so, we try to reconstruct how spinal cord development has been regulated by the RA signaling cascade through vertebrate diversification, highlighting areas which require further studies to obtain a better understanding of the evolutionary events that shaped this structure in the vertebrate lineage. PMID:23579094

Lara-Ramírez, Ricardo; Zieger, Elisabeth; Schubert, Michael

2013-07-01

363

Analysis of Maternal Risk Factors Associated With Congenital Vertebral Malformations  

PubMed Central

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

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

2014-01-01

364

Novel Brain Arteriovenous Malformation Mouse Models for Type 1 Hereditary Hemorrhagic Telangiectasia  

PubMed Central

Endoglin (ENG) is a causative gene of type 1 hereditary hemorrhagic telangiectasia (HHT1). HHT1 patients have a higher prevalence of brain arteriovenous malformation (AVM) than the general population and patients with other HHT subtypes. The pathogenesis of brain AVM in HHT1 patients is currently unknown and no specific medical therapy is available to treat patients. Proper animal models are crucial for identifying the underlying mechanisms for brain AVM development and for testing new therapies. However, creating HHT1 brain AVM models has been quite challenging because of difficulties related to deleting Eng-floxed sequence in Eng2fl/2fl mice. To create an HHT1 brain AVM mouse model, we used several Cre transgenic mouse lines to delete Eng in different cell-types in Eng2fl/2fl mice: R26CreER (all cell types after tamoxifen treatment), SM22?-Cre (smooth muscle and endothelial cell) and LysM-Cre (lysozyme M-positive macrophage). An adeno-associated viral vector expressing vascular endothelial growth factor (AAV-VEGF) was injected into the brain to induce focal angiogenesis. We found that SM22?-Cre-mediated Eng deletion in the embryo caused AVMs in the postnatal brain, spinal cord, and intestines. Induction of Eng deletion in adult mice using R26CreER plus local VEGF stimulation induced the brain AVM phenotype. In both models, Eng-null endothelial cells were detected in the brain AVM lesions, and formed mosaicism with wildtype endothelial cells. However, LysM-Cre-mediated Eng deletion in the embryo did not cause AVM in the postnatal brain even after VEGF stimulation. In this study, we report two novel HHT1 brain AVM models that mimic many phenotypes of human brain AVM and can thus be used for studying brain AVM pathogenesis and testing new therapies. Further, our data indicate that macrophage Eng deletion is insufficient and that endothelial Eng homozygous deletion is required for HHT1 brain AVM development. PMID:24520391

Choi, Eun-Jung; Chen, Wanqiu; Jun, Kristine; Arthur, Helen M.; Young, William L.; Su, Hua

2014-01-01

365

Tachyonic Squarks in Split Supersymmetry  

E-print Network

The decoupling of scalar particles in split supersymmetry makes the spectrum of squarks irrelevant for low energy processes. Nevertheless, the structure of the vacuum is sensitive to the spectrum of squarks, even when the supersymmetry breaking scale is large. In this note, we show that in certain regions of the parameter space, squarks could develop radiatively tachyonic masses, thus breaking electric charge and color. We discuss the constraints that follow from the requirement of charge and color conservation, and we comment on the implications for model building.

Alejandro Ibarra

2005-06-16

366

Progress in the treatment of congenital malformations of the hand.  

PubMed

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

Buck-Gramcko, D

1990-01-01

367

Can arteriovenous malformation prevent the diagnosis of brain death?  

PubMed

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

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

2015-04-01

368

Advances and innovations in brain arteriovenous malformation surgery.  

PubMed

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

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

2014-02-01

369

Quantification of intracerebral steal in patients with arteriovenous malformation  

SciTech Connect

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

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

1986-08-01

370

Recessive LAMC3 mutations cause malformations of occipital cortical development  

PubMed Central

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

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

2012-01-01

371

[Toe transplantation in congenital malformations of the hand].  

PubMed

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

Foucher, G

1997-11-01

372

Advanced Echocardiographic Imaging of the Congenitally Malformed Heart  

PubMed Central

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

Black, D; Vettukattil, J

2013-01-01

373

Malformations of Cortical Development: Diagnostic Accuracy of Fetal MR Imaging  

PubMed Central

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

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

2012-01-01

374

Surgical resection of subependymoma of the cervical spinal cord.  

PubMed

Subependymomas can rarely occur in the spinal cord, and account for about 2% of symptomatic spinal cord tumors. It most often occurs in the cervical spinal cord, followed by cervicothoracic junction, thoracic cord and conus medullaris. It often has an eccentric location in the spinal cord and lacks gadolinium enhancement on magnetic resonance imaging. We present a rare case of symptomatic subependymoma of the cervical spinal cord, which underwent successful gross total resection. Surgical pearls and nuances are discussed to help surgeons to avoid potential complications. The video can be found here: http://youtu.be/Rsm9KxZX7Yo. PMID:25175581

Tan, Lee A; Kasliwal, Manish K; Mhanna, Nakhle; Fontes, Ricardo B V; Traynelis, Vincent C

2014-09-01

375

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

PubMed

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

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

2015-04-01

376

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

PubMed Central

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

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

2009-01-01

377

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

PubMed Central

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

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

2013-01-01

378

Split-mode ultrasonic transducer.  

PubMed

A split-mode ultrasonic transducer is investigated in both theory and experiment. This transducer is a two-dimensional structure of periodically poled domains in a ferroelectric wafer with free surfaces. The acoustic vibrations are excited by a radio frequency electric current applied along the length of the wafer, which allows the basal-plane surfaces to be free of metal coatings and thus ready for further biomedical applications. A specific physical property of this transducer consists of the multiple acousto-electric resonances, which occur due to an acoustic mode split when the acoustic half-wavelength is equal to the domain length. Possible applications include ultrasonic generation and detection at the micro-scale, intravascular sonification and visualization, ultrasound therapy of localized small areas such as the eye, biomedical applications for cell cultures, and traditional nondestructive testing including bones and tissues. A potential use of a non-metallized wafer is a therapeutic application with double action that is both ultrasound itself and an electric field over the wafer. The experimental measurements and theoretical calculations are in good agreement. PMID:23927212

Ostrovskii, Igor; Cremaldi, Lucien

2013-08-01

379

D -split sequences and derived equivalences  

Microsoft Academic Search

In this paper, we introduce the so-called D-split sequences and show that each D-split sequence gives rise to a derived equivalence via a tilting module. In particular, we obtain derived equivalences from Auslander–Reiten sequences via BB-tilting modules (or from n-almost split sequences via n-BB-tilting modules), and Auslander–Reiten triangles. Further, we recover n-almost split sequences from n-BB-tilting modules over n-Auslander algebras.

Wei Hu; Changchang Xi

2011-01-01

380

Radiation tolerance of the cervical spinal cord  

SciTech Connect

The incidence of permanent injury to the spinal cord as a complication of radiation therapy generally correlates positively with total radiation dosage. However, several reports in the literature have indicated that fraction size is also an important factor in the development or nondevelopment of late injuries in normal tissue. To determine the effect of fraction size on the incidence of radiation-induced spinal cord injuries, we reviewed 144 cases of head and neck cancer treated at our institution between 1971 and 1980 with radiation greater than 5600 cGy to a portion of the cervical spinal cord. Most of these patients received greater than or equal to 6000 cGy, with fraction sizes ranging from 133 cGy to 200 cGy. Fifty-three of the 144 patients have been followed up for 2 years or more. Nearly half of these (26 patients) received greater than 6000 cGy with fraction sizes of 133 cGy to 180 cGy. Only 1 of the 53 (1.9%) has sustained permanent spinal cord injury; 20 months after completion of radiation treatments he developed Brown-Sequard syndrome. Our experience suggests that radiation injuries to the spinal cord correlate not only with total radiation dosage, but also with fraction size; low fraction sizes appear to decrease the incidence of such injuries.

McCunniff, A.J.; Liang, M.J.

1989-03-01

381

Spinal cord ischemia after cardiac arrest.  

PubMed

Subsequent to cardiac arrest, a 58-year-old man with intractable dysrhythmia and severe arteriosclerosis developed flaccid paraplegia, depressed deep tendon reflexes, and showed no pain or temperature sensation caudal to Th-7 in spite of completely intact proprioception and vibration sensation. An echocardiogram showed no clots or vegetation on the prosthetic valve and no thrombus in the left atrium or left ventricle. The patient's paraplegia was permanent, at least through a follow-up period of 2 years. These findings suggest that the etiology was spinal cord ischemia due to blood supply in the area of the anterior spinal artery (ASA); however, magnetic resonance T2-weighted imaging demonstrated signal abnormalities throughout the gray matter and in the adjacent center white matter. Somatosensory-evoked potentials (SEP) measure neural transmission in the afferent spinal cord pathway, which is located in the lateral and posterior columns of the white matter; these showed a delay in latency between Th-6 and Th-7. The spinal cord is as vulnerable to transient ischemia as the brain. Spinal cord ischemia after cardiac arrest results from principal damage in the anterior horn of the gray matter, the so-called ASA syndrome; however, the pathways of SEP and pathogenesis of the spinal cord ischemia need further investigation. PMID:7884198

Imaizumi, H; Ujike, Y; Asai, Y; Kaneko, M; Chiba, S

1994-01-01

382

Split ureteral stent after ureteroureterostomy.  

PubMed

Ipsilateral ureteroureterostomy is a well documented surgical approach to duplicated collecting systems associated with obstruction or Vesicoureteral reflux. Indwelling stents are employed in these procedures, to facilitate unobstructed flow across the anastomosis, to minimize anastomotic leak, and to assist in aligning the repair. Positioning of the ureteral stent is controversial. Some advocate placement of the stent to the recipient ureter across the suture line to prevent anastomotic stricture. Others prefer placing the stent along the donor ureter in order to facilitate drainage of the moiety that was originally obstructed. We describe a technique that allows drainage both ureters by using a single stent that has been split at its proximal end just across the U-U anastomosis. PMID:23523181

Hidas, Guy; McLorie, Gordon; McAleer, Irene

2013-08-01

383

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

384

ISODATA: Thresholds for splitting clusters  

NASA Technical Reports Server (NTRS)

The author has identified the following significant results. The parameter AD (average distance) as used in the ISODATA program was critically examined. Thresholds of AD to decide on the splitting of clusters were obtained. For the univariate case, 0.84 was established as a sound choice, after examining several simple, as well as composite, distributions and also after investigating the probability of misclassification when points have to be reassigned to the newly identified clusters. For the multivariate case, the empirical threshold (N-0.16)/square root of N was extrapolated. A final criticism on AD was that AD would lose its effectiveness as a discriminative measure for the present purpose when N was large.

Kan, E. P. F. (principal investigator)

1972-01-01

385

General Information About Staging Childhood Brain and Spinal Cord Tumors  

MedlinePLUS

General Information About Staging Childhood Brain and Spinal Cord Tumors Key Points for This Section In childhood brain and spinal cord tumors, treatment options are based on several factors. The information from ...

386

Vocational Rehabilitation of Persons with Spinal Cord Injuries  

ERIC Educational Resources Information Center

Reviews historical development of organized vocational rehabilitation programming for the spinal cord injured in the United States. Significant factors that affect vocational rehabilitation outcomes with spinal cord injured persons are listed and discussed. (Author)

Poor, Charles R.

1975-01-01

387

Treatment Option Overview (Childhood Brain and Spinal Cord Tumors)  

MedlinePLUS

... are different types of treatment for children with brain and spinal cord tumors. Different types of treatment ... patients who have not started treatment. Children with brain or spinal cord tumors should have their treatment ...

388

Spinal Cord Injury: Facts and Figures at a Glance  

MedlinePLUS

Spinal Cord Injury Facts and Figures at a Glance https: / / www. nscisc. uab. edu February 2012 This is a ... derived from the National SCI Database. The National Spinal Cord Injury Database has been in existence since 1973 and ...

389

What Are the Treatments for Spinal Cord Injury (SCI)?  

MedlinePLUS

... Resources and Publications What are the treatments for spinal cord injury (SCI)? Skip sharing on social media links Share ... National Institute of Neurological Disorders and Stroke. (2012). Spinal cord injury: Hope through research . Retrieved May 22, 2012, from ...

390

Salt splitting using ceramic membranes  

SciTech Connect

Many radioactive aqueous wastes in the DOE complex have high concentrations of sodium that can negatively affect waste treatment and disposal operations. Sodium can decrease the durability of waste forms such as glass and is the primary contributor to large disposal volumes. Waste treatment processes such as cesium ion exchange, sludge washing, and calcination are made less efficient and more expensive because of the high sodium concentrations. Pacific Northwest National Laboratory (PNNL) and Ceramatec Inc. (Salt Lake City UT) are developing an electrochemical salt splitting process based on inorganic ceramic sodium (Na), super-ionic conductor (NaSICON) membranes that shows promise for mitigating the impact of sodium. In this process, the waste is added to the anode compartment, and an electrical potential is applied to the cell. This drives sodium ions through the membrane, but the membrane rejects most other cations (e.g., Sr{sup +2}, Cs{sup +}). The charge balance in the anode compartment is maintained by generating H{sup +} from the electrolysis of water. The charge balance in the cathode is maintained by generating OH{sup {minus}}, either from the electrolysis of water or from oxygen and water using an oxygen cathode. The normal gaseous products of the electrolysis of water are oxygen at the anode and hydrogen at the cathode. Potentially flammable gas mixtures can be prevented by providing adequate volumes of a sweep gas, using an alternative reductant or destruction of the hydrogen as it is generated. As H{sup +} is generated in the anode compartment, the pH drops. The process may be operated with either an alkaline (pH>12) or an acidic anolyte (pH <1). The benefits of salt splitting using ceramic membranes are (1) waste volume reduction and reduced chemical procurement costs by recycling of NaOH; and (2) direct reduction of sodium in process streams, which enhances subsequent operations such as cesium ion exchange, calcination, and vitrification.

Kurath, D.E. [Pacific Northwest National Lab., Richland, WA (United States)

1997-10-01

391

Causes of Spinal Cord Injury  

PubMed Central

Background: Knowledge of the causes of spinal cord injury (SCI) and associated factors is critical in the development of successful prevention programs. Objective: This study analyzed data from the National SCI Database (NSCID) and National Shriners SCI Database (NSSCID) in the United States to examine specific etiologies of SCI by age, sex, race, ethnicity, day and month of injury, and neurologic outcomes. Methods: NSCID and NSSCID participants who had a traumatic SCI from 2005 to 2011 with known etiology were included in the analyses (N=7,834). Thirty-seven causes of injury documented in the databases were stratified by personal characteristics using descriptive analysis. Results: The most common causes of SCI were automobile crashes (31.5%) and falls (25.3%), followed by gunshot wounds (10.4%), motorcycle crashes (6.8%), diving incidents (4.7%), and medical/surgical complications (4.3%), which collectively accounted for 83.1% of total SCIs since 2005. Automobile crashes were the leading cause of SCI until age 45 years, whereas falls were the leading cause after age 45 years. Gunshot wounds, motorcycle crashes, and diving caused more SCIs in males than females. The major difference among race/ethnicity was in the proportion of gunshot wounds. More SCIs occurred during the weekends and warmer months, which seemed to parallel the increase of motorcycle- and diving-related SCIs. Level and completeness of injury are also associated with etiology of injury. Conclusions: The present findings suggest that prevention strategies should be tailored to the targeted population and major causes to have a meaningful impact on reducing the incidence of SCI. PMID:23678280

2013-01-01

392

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

PubMed Central

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

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

2014-01-01

393

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

PubMed

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

Ratzka, M; Sörensen, N; Wodarz, R

1981-11-01

394

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

E-print Network

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

California at Berkeley, University of

395

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

PubMed

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

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

2014-01-01

396

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

EPA Science Inventory

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

397

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

E-print Network

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

Das, Soma

398

Ethical language and decision-making for prenatally diagnosed lethal malformations  

PubMed Central

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

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

2014-01-01

399

Allantoic cyst – an unusual umbilical cord swelling  

PubMed Central

We report a baby with an unusual umbilical cord swelling. On the antenatal scans, a cystic area within the umbilical cord near its insertion onto the abdominal wall was detected. Postnatally an unusually thick umbilical cord with a yellow fluid filled cyst at the base was noted. The fluid from the cyst was confirmed as urine and ultrasound confirmed patent urachus. The baby underwent a cystoscopy and excision of patent urachus with associated allantoic cyst. Allantoic cyst is a rare swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. Paediatricians need to be aware about this condition as investigation is required to differentiate allantois cysts from umbilical pseudocysts. A patent urachus with allantoic cyst requires surgical excision. PMID:24950576

Gupta, N; Corbett, H; Ismail, R; Sathanantharajah, R; Sivakumar, S; McCarthy, Liam

2011-01-01

400

Vocal cord paralysis caused by stingray.  

PubMed

Foreign bodies in the oral cavity and pharynx are commonly encountered in the emergency room and outpatient departments, and the most frequently observed of these foreign bodies are fish bones. Among the possible complications resulting from a pharyngeal foreign body, vocal cord fixation is extremely rare, with only three cases previously reported in the English literature. The mechanisms of vocal cord fixation can be classified into mechanical articular fixation, direct injury of the recurrent laryngeal nerve, or recurrent laryngeal nerve paralysis secondary to inflammation. The case discussed here is different from previous cases. We report a rare case of vocal cord paralysis caused by the venom of a stingray tail in the hypopharynx. PMID:24077868

Kwon, Oh Jin; Park, Jung Je; Kim, Jin Pyeong; Woo, Seung Hoon

2013-11-01

401

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

PubMed

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

Tosi, B; Maestro, S; Marcheschi, M

1995-10-01

402

Rehabilitation in spinal cord disorders. 4. Outcomes and issues of aging after spinal cord injury.  

PubMed

This self-directed learning module highlights current concepts in outcomes and issues of aging in spinal cord injury. It is part of the chapter on rehabilitation in spinal cord disorders for the Self-Directed Medical Knowledge Program Study Guide for practitioners and trainees in physical medicine and rehabilitation. This article includes discussion of the measurement of impairment, disability, and handicap, and outcomes with respect to employment, long-term adjustment, aging, life expectancy, and causes of death in spinal cord injury. PMID:2003762

Lammertse, D P; Yarkony, G M

1991-03-01

403

ACTIVITY-DEPENDENT SPINAL CORD PLASTICITY IN HEALTH AND DISEASE  

Microsoft Academic Search

? Abstract Activity-dependent plasticity occurs in the spinal cord throughout life. Driven by input from the periphery and the brain, this plasticity plays an important role in the acquisition and maintenance of motor skills and in the effects of spinal cord injury and other central nervous system disorders. The responses of the isolated spinal cord to sensory input display sensitization,

Jonathan R Wolpaw; Ann M Tennissen

2001-01-01

404

Instrumental Learning Within the Spinal Cord: Underlying Mechanisms  

E-print Network

the recovery of function after a contusion injury. Key Words: spinal cord, instrumental learning, recovery for the treatment of spinal cord injury. For example, consider the issue of spanning a spinal injury with a neural191 Instrumental Learning Within the Spinal Cord: Underlying Mechanisms and Implications

Grau, James

405

Endogenous Repair after Spinal Cord Contusion Injuries in the Rat  

Microsoft Academic Search

Contusion injuries of the rat thoracic spinal cord were made using a standardized device developed for the Multicenter Animal Spinal Cord Injury Study (MASCIS). Lesions of different severity were studied for signs of endogenous repair at times up to 6 weeks following injury. Contusion injuries produced a typical picture of secondary damage resulting in the destruction of the cord center

M. S. Beattie; J. C. Bresnahan; J. Komon; C. A. Tovar; M. Van Meter; D. K. Anderson; A. I. Faden; C. Y. Hsu; L. J. Noble; S. Salzman; W. Young

1997-01-01

406

Peripheral Inflammation Undermines the Plasticity of the Isolated Spinal Cord  

E-print Network

Peripheral Inflammation Undermines the Plasticity of the Isolated Spinal Cord Michelle A. Hook demonstrate that capsaicin also undermines the adaptive plasticity of the spinal cord, rendering the system the spinal cord against the maladaptive effects. Rats pretrained with controllable stimulation do not display

Grau, James

407

Spinal Crawlers: Deformable Organisms for Spinal Cord Segmentation and Analysis  

E-print Network

Spinal Crawlers: Deformable Organisms for Spinal Cord Segmentation and Analysis Chris Mc, Canada {cmcintos, hamarneh}@cs.sfu.ca Abstract. Spinal cord analysis is an important problem relating to the study of various neurological diseases. We present a novel approach to spinal cord segmentation

Hamarneh, Ghassan

408

Chronic cervical spinal cord injury and autonomic hyperreflexia in rats  

E-print Network

Chronic cervical spinal cord injury and autonomic hyperreflexia in rats JOHN W. OSBORN, ROBERT F cervical spinal cord injury and autonomic hyperreflexia in rats. Am. J. Physiol. 258(Regulatory Integra spinal cord injury are proneto acute, marked,hypertensive episodes,i.e., autonomic hyperreflexia

Schramm, Lawrence P.

409

Original Article Electrophysiological changes in isolated spinal cord white matter  

E-print Network

Original Article Electrophysiological changes in isolated spinal cord white matter in response pig spinal cord white matter. Objectives: To determine whether lack of oxygen can cause irreversible of reoxygenation, mammalian spinal cord white matter can partially recover electrical impulse conduction. However

Shi, Riyi

410

NOCICEPTIVE PLASTICITY INHIBITS ADAPTIVE LEARNING IN THE SPINAL CORD  

E-print Network

NOCICEPTIVE PLASTICITY INHIBITS ADAPTIVE LEARNING IN THE SPINAL CORD A. R. FERGUSON,a * E. D in central neurogenic pain. Over the last 100 years researchers have found that the spinal cord is also (response­outcome) learning in the spi- nal cord, we use a preparation in which spinally transected rats

Grau, James

411

Technical Note Functional MRI of the Thoracic Spinal Cord During  

E-print Network

Technical Note Functional MRI of the Thoracic Spinal Cord During Vibration Sensation Jennifer functional magnetic resonance images from thoracic spinal cord neurons. Materials and Methods: The lower spinal cord using a HASTE sequence on a 3 Tesla MRI system. Results: Signal increases were observed

Smith, Stephen D.

412

Towards Optimal Pain Relief: Acupuncture and Spinal Cord Stimulation  

E-print Network

Towards Optimal Pain Relief: Acupuncture and Spinal Cord Stimulation Richard Al'o 1 , Kenneth Al is a discrete optimization problem, e.g., for pain relief methodologies such as acupuncture and spinal cord problems related to pain relief: ffl problems of acupuncture, and ffl problems related to spinal cord

Kreinovich, Vladik

413

Introduction In the developing dorsal spinal cord, different classes of  

E-print Network

2047 Introduction In the developing dorsal spinal cord, different classes of postmitotic neurons are commissural neurons and migrate to the intermediate region of the spinal cord. What promotes early- born is the projection of different classes of primary sensory afferents within the spinal cord (Brown, 1981; Ozaki

Kharasch, Evan

414

General Information about Childhood Brain and Spinal Cord Tumors  

MedlinePLUS

General Information About Childhood Brain and Spinal Cord Tumors Key Points for This Section A childhood brain or spinal cord tumor is a disease in ... factors affect prognosis (chance of recovery). A childhood brain or spinal cord tumor is a disease in ...

415

Spinal Cord Injury Reveals Multilineage Differentiation of Ependymal Cells  

Microsoft Academic Search

Spinal cord injury often results in permanent functional impairment. Neural stem cells present in the adult spinal cord can be expanded in vitro and improve recovery when transplanted to the injured spinal cord, demonstrating the presence of cells that can promote regeneration but that normally fail to do so efficiently. Using genetic fate mapping, we show that close to all

Konstantinos Meletis; Fanie Barnabé-Heider; Marie Carlén; Emma Evergren; Nikolay Tomilin; Oleg Shupliakov; Jonas Frisén

2008-01-01

416

Turkish Adaptation of Spinal Cord Independence Measure--Version III  

ERIC Educational Resources Information Center

Various rating scales have been used to assess ability in individuals with spinal cord injury. There is no specific functional assessment scale for Turkish patients with spinal cord injury. The Spinal Cord Independence Measure (SCIM) is a specific test, which has become popular in the last decade. A study was conducted to validate and evaluate the…

Kesiktas, Nur; Paker, Nurdan; Bugdayci, Derya; Sencan, Sureyya; Karan, Ayse; Muslumanoglu, Lutfiye

2012-01-01

417

Sexuality Counseling with Clients Who Have Spinal Cord Injuries.  

ERIC Educational Resources Information Center

Examines effects of spinal cord injury on sexuality. Discusses areas of sexual concern. Provides suggestions for treating clients with spinal cord injuries experiencing sexual difficulties. Concludes that major goal in working with clients with spinal cord injuries who have sexual difficulties should be the facilitation of a creative and…

Farrow, Jeff

1990-01-01

418

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

Microsoft Academic Search

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

M. Roth

1986-01-01

419

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

Microsoft Academic Search

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

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

2009-01-01

420

Multispectral assessment of skin malformations using a modified video-microscope  

NASA Astrophysics Data System (ADS)

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

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

2012-10-01

421

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

Microsoft Academic Search

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

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

2008-01-01

422

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

Microsoft Academic Search

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

Mahmoud Reza Khalatbari; Mehrdokht Hamidi; Yashar Moharamzad

2011-01-01

423

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

PubMed

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

Requena, L; Sangueza, O P

1997-10-01

424

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

Microsoft Academic Search

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

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

1995-01-01

425

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

PubMed Central

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

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

2013-01-01

426

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

PubMed Central

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

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

2014-01-01

427

Parallel programming in Split-C  

Microsoft Academic Search

The authors introduce the Split-C language, a parallel extension of C intended for high performance programming on distributed memory multiprocessors, and demonstrate the use of the language in optimizing parallel programs. Split-C provides a global address space with a clear concept of locality and unusual assignment operators. These are used as tools to reduce the frequency and cost of remote

A. Krishnamurthy; D. E. Culler; A. Dusseau; S. C. Goldstein; Steven Lumetta; Thorsten von Eicken; Katherine A. Yelick

1993-01-01

428

Tracking Water Absorption in Split Susceptible Blueberries  

Technology Transfer Automated Retrieval System (TEKTRAN)

Rain related fruit splitting in blueberries has been a problem for commercial blueberry growers in the Southeastern US. The presence of split berries can cause an entire batch of berries to be rejected. Rejection of batches can be devastating to the growers and their income. Previous studies ha...

429

Splitting in Schizophrenia and Borderline Personality Disorder  

PubMed Central

Background Splitting describes fragmentation of conscious experience that may occur in various psychiatric disorders. A purpose of this study is to examine relationships between psychological process of splitting and disturbed cognitive and affective functions in schizophrenia and borderline personality disorder (BPD). Methods In the clinical study, we have assessed 30 patients with schizophrenia and 35 patients with BPD. The symptoms of splitting were measured using self-reported Splitting Index (SI). As a measure of semantic memory disorganization we have used verbal fluency test. Other psychopathological symptoms were assessed using Health of the Nation Outcome Scale (HoNOS). Results Main results show that SI is significantly higher in BPD group than in schizophrenia, and on the other hand, verbal fluency is significantly lower in schizophrenia group. Psychopathological symptoms measured by HoNOS are significantly higher in the BPD group than in schizophrenia. Significant relationship was found between verbal fluency and the SI “factor of others” (Spearman r?=??0.52, p<0.01) in schizophrenia patients. Conclusions Processes of splitting are different in schizophrenia and BPD. In BPD patients splitting results to mental instability, whereas in schizophrenia the mental fragmentation leads to splitting of associations observed as lower scores of verbal fluency, which in principle is in agreement with Bleuler’s historical concept of splitting in schizophrenia. PMID:24603990

Pec, Ondrej; Bob, Petr; Raboch, Jiri

2014-01-01

430

Conditions for a split diffusion flame  

Microsoft Academic Search

An unusual phenomenon has been observed in a methane jet diffusion flame subjected to axial acoustic forcing. At specific excitation frequencies and amplitudes, the driven flame splits into a central jet and one or two side jets. The splitting is accompanied by a partial detachment of the flame from the nozzle exit, a shortening of the flame by a factor

Jean R. Hertzberg

1997-01-01

431

1 Splitting Patterns of Excellent Quadratic Forms  

E-print Network

is infinite or a power of 2, an* *d that fields exist having a prescribed power of 2 as its level (cf. 3 that a generic splitting fie* *ld of such an algebra D splits precisely those division algebras which represent * * 2 which occur for the quadratic forms qL := q L with L running through all fie* *ld extensions

Rehmann, Ulf

432

High Temperature Solar Splitting of Methane  

E-print Network

High Temperature Solar Splitting of Methane to Hydrogen and Carbon High Temperature Solar Splitting of Methane to Hydrogen and Carbon Allan Lewandowski (NREL) Alan Weimer (University of Colorado, Boulder) Team ­ Targets: · 70% conversion on a continuous basis · $3/kg for fleet fueling station with carbon black

433

Splitting and Projection at Work in Schools  

ERIC Educational Resources Information Center

Purpose: The purpose of this paper is to report research into the social defence of splitting and projection in schools. In splitting and projection, organisational members separate their unbearable feelings from the more acceptable ones and project them, typically towards other individuals and groups. Design/methodology/approach: The research was…

Dunning, Gerald; James, Chris; Jones, Nicola

2005-01-01

434

Advances in isotropic split ring metamaterials  

Microsoft Academic Search

The problem of developing negative µ and negative refraction (NRI) 3D isotropic split ring metamaterials is addressed. First of all the necessary symmetries required to guar- antee an isotropic behavior are analyzed. Secondly an homogenization procedure taking into account spatial dispersion is developed for magnetic split ring metamaterials. It is shown that this homogenization also accounts for all kind of

R. Marques

435

Inflammation & apoptosis in spinal cord injury  

PubMed Central

Spinal cord injury (SCI) consists of a two-steps process involving a primary mechanical injury followed by an inflammatory process and apoptosis. Secondary insult is characterized by further destruction of neuronal and glial cells, and leads to expansion of the damage, so that the paralysis can extend to higher segments. With the identification of mechanisms that either promote or prevent neuronal inflammation and apoptosis come new approaches for preventing and treating neurodegenerative disorders. From a clinical perspective, this article discusses novel targets for the development of therapeutic agents that have the potential to protect the spinal cord from irreversible damage and promote functional recovery. PMID:22561613

Zhang, Ning; Yin, Ying; Xu, Sheng-Jie; Wu, Yong-Ping; Chen, Wei-Shan

2012-01-01

436

[Hydatid cyst of the spermatic cord].  

PubMed

The authors report the third published case of hydatid disease of the spermatic cord and describe its unusual presentation in the form of hydrocele. Hydatid disease is endemic to some countries, where it constitutes a real public health problem. It can affect all organs of the body. However, primary involvement of the spermatic cord is exceptional. Implantation of the hydatid larva is essentially haematogenous. The positive diagnosis is based on ultrasound. Eosinophilia is neither constant nor specific and only contributes to the diagnosis when it is positive. However positive hydatid serology has a diagnostic and prognostic value. Resection of the roof of the cyst is the treatment of choice. PMID:17069050

Haouas, Noureddine; Sahraoui, Wassila; Youssef, Anis; Thabet, Imène; Ben Sorba, Nabil; Jaidane, Mehdi; Mosbah, Ali Tahar

2006-09-01

437

An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis  

PubMed Central

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

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

2014-01-01

438

[Health assessment of newborns with congenital urinary malformation].  

PubMed

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

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

2011-01-01

439

Optical Coherence Tomography in Patients with Chiari I Malformation  

PubMed Central

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

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

2015-01-01

440

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

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

Porter, Forbes D.; Herman, Gail E.

2011-01-01

441

Endovascular and microsurgical treatment of cerebral arteriovenous malformations: Current recommendations  

PubMed Central

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

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

2015-01-01

442

Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

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

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

1996-03-29

443

Neocortical malformation as consequence of nonadaptive regulation of neuronogenetic sequence  

NASA Technical Reports Server (NTRS)

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

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

2000-01-01

444

Perceptual enhancement of arteriovenous malformation in MRI angiography displays  

NASA Astrophysics Data System (ADS)

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

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

2012-02-01

445

Heavy-charged-particle radiosurgery for intracranial arteriovenous malformations.  

PubMed

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

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

1991-01-01

446

Control of epilepsy associated with cerebral arteriovenous malformations after radiosurgery  

PubMed Central

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

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

1998-01-01

447

Chiari Type I Malformation in a Pediatric Population  

PubMed Central

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

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

2011-01-01

448

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination  

PubMed Central

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

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

2013-01-01

449

Gastric foregut cystic developmental malformation: Case series and literature review  

PubMed Central

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

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

2015-01-01

450

Endovascular Management of Arteriovenous Malformations of the Brain  

PubMed Central

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

Bruno, Charles A.; Meyers, Philip M.

2013-01-01

451

Discovery of familial cerebral cavernous malformation in a Saudi population.  

PubMed

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

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

2013-01-01

452

Somatic activation of AKT3 causes hemispheric developmental brain malformations.  

PubMed

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

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

2012-04-12

453

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations  

PubMed Central

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

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

2012-01-01

454

Optical coherence tomography in patients with Chiari I malformation.  

PubMed

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

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

2015-01-01

455

Cervical and thoracic vertebral malformation ("weak neck") in Colombia lambs.  

PubMed

The purpose of this study is to describe a developmental defect of the caudal cervical and cranial thoracic vertebrae in 11 purebred Colombia lambs. The lambs were either affected at birth, or developed the condition within the first 18 days of age. Cervicothoracic kyphosis, with a compensatory cervical lordosis and ataxia were common; 8 lambs had abnormal head posture, characterized by inability to lift the head from the ground. One lamb had rigid head and neck, and had to move the entire body to look to the left or right. Neurological signs included ataxia, tetraparesis, diminished conscious proprioception, and increased patellar and triceps reflexes. One lamb had inspiratory stridor because of compression of the trachea in the area overlying the abnormal vertebrae (cervical vertebrae 6 [C6] and 7 [C7]). Radiographic and pathological abnormalities included malalignment and malarticulation of the caudal cervical and cranial thoracic spine, rounded cranioventral margins in the bodies of vertebrae C7 and T1, wedging of the intervertebral disc spaces between C6 and T1 vertebrae, and hypoplasia of the dens. Pathological changes in the soft tissues included hypoplasia of the cervical epaxial and hypaxial musculature, with associated focal areas of myodegeneration. Mild Wallerian axonal degeneration, compatible with a mild cord compression syndrome, was found in 3 lambs in the cervicothoracic spinal cord adjacent to the vertebral anomalies. The concentrations of copper and selenium in blood, plasma, or tissues were normal in 10 of 11 lambs. All but one of the lambs in which pedigree information was provided were genetically related. Siblings born as twins to 5 of the affected lambs were normal, but both lambs from one twin pregnancy were affected. Owners reported that breeding stock had been shared among the ranches. Because of the close familial relationships of the affected lambs, the condition is suspected to have a hereditary basis. PMID:8558486

Lakritz, J; Barr, B C; George, L W; Wisner, E R; Glenn, J S; East, N E; Pool, R R

1995-01-01

456

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

PubMed Central

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

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

2013-01-01

457

DiI-labeling of DRG neurons to study axonal branching in a whole mount preparation of mouse embryonic spinal cord.  

PubMed

Here we present a technique to label the trajectories of small groups of DRG neurons into the embryonic spinal cord by diffusive staining using the lipophilic tracer 1,1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanine perchlorate (DiI). The comparison of axonal pathways of wild-type with those of mouse lines in which genes are mutated allows testing for a functional role of candidate proteins in the control of axonal branching which is an essential mechanism in the wiring of the nervous system. Axonal branching enables an individual neuron to connect with multiple targets, thereby providing the physical basis for the parallel processing of information. Ramifications at intermediate target regions of axonal growth may be distinguished from terminal arborization. Furthermore, different modes of axonal branch formation may be classified depending on whether branching results from the activities of the growth cone (splitting or delayed branching) or from the budding of collaterals from the axon shaft in a process called interstitial branching (Fig. 1). The central projections of neurons from the DRG offer a useful experimental system to study both types of axonal branching: when their afferent axons reach the dorsal root entry zone (DREZ) of the spinal cord between embryonic days 10 to 13 (E10-E13) they display a stereotyped pattern of T- or Y-shaped bifurcation. The two resulting daughter axons then proceed in rostral or caudal directions, respectively, at the dorsolateral margin of the cord and only after a waiting period collaterals sprout from these stem axons to penetrate the gray matter (interstitial branching) and project to relay neurons in specific laminae of the spinal cord where they further arborize (terminal branching). DiI tracings have revealed growth cones at the dorsal root entry zone of the spinal cord that appeared to be in the process of splitting suggesting that bifurcation is caused by splitting of the growth cone itself (Fig. 2), however, other options have been discussed as well. This video demonstrates first how to dissect the spinal cord of E12.5 mice leaving the DRG attached. Following fixation of the specimen tiny amounts of DiI are applied to DRG using glass needles pulled from capillary tubes. After an incubation step, the labeled spinal cord is mounted as an inverted open-book preparation to analyze individual axons using fluorescence microscopy. PMID:22214915

Schmidt, Hannes; Rathjen, Fritz G

2011-01-01

458

Lightweight electrical connector split backshell  

NASA Technical Reports Server (NTRS)

An electrical connector split backshell is provided, comprising two substantially identical backshell halves. Each half includes a first side and a cam projecting therefrom along an axis perpendicular thereto, the cam having an alignment tooth with a constant radius and an engagement section with a radius that increases with angular distance from the alignment tooth. Each half further includes a second side parallel to the first side and a circular sector opening disposed in the second side, the circular sector opening including an inner surface configured as a ramp with a constant radius, the ramp being configured to engage with an engagement section of a cam of the other half, the circular sector opening further including a relieved pocket configured to receive an alignment tooth of the cam of the other half. Each half further includes a back side perpendicular to the first and second sides and a wire bundle notch disposed in the back side, the wire bundle notch configured to align with a wire bundle notch of the other half to form a wire bundle opening. The two substantially identical halves are rotatably coupled by engaging the engagement section of each half to the ramp of the other half.

Goldman, Elliot (Inventor)

2009-01-01

459

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

460

Split contact phased array lasers  

SciTech Connect

A split contact phased array laser is described comprising a plurality of parallel emitters under phase locked operation and productive of an output beam having a preferred emission wavelength and preferred far field mode of operation, means to pump the laser and change the charge distribution profile therein to cause the output beam to deflect and scan in the far field. The improvement in the laser is divided into at least three independently current pumped segments transversely of the emitters, and wherein at least one of the segments is current pumped above threshold level sufficient to primarily determine the emission wavelength and mode of operation of the laser while the current supplied to the other of the segments is below the level and is varied relative to one another to cause the output beam to deflect and scan in the far field without substantial change to the emission wavelength and mode of operation established relative to the one segment to thereby provide effective control of the overall active region charge density.

Streifer, W.; Burnham, R.D.; Paoli, T.L.

1989-01-17

461

Transforming Growth Factor Alpha (TGF?) Transforms Astrocytes to a Growth Supportive Phenotype after Spinal Cord Injury  

PubMed Central

Astrocytes are both detrimental and beneficial for repair and recovery after spinal cord injury (SCI). These dynamic cells are primary contributors to the growth-inhibitory glial scar, yet they are also neuroprotective and can form growth-supportive bridges upon which axons traverse. We have shown that intrathecal administration of transforming growth factor alpha (TGF?) to the contused mouse spinal cord can enhance astrocyte infiltration and axonal growth within the injury site, but the mechanisms of these effects are not well understood. The present studies demonstrate that the epidermal growth factor receptor (EGFR) is upregulated primarily by astrocytes and glial progenitors early after SCI. TGF? directly activates the EGFR on these cells in vitro, inducing their proliferation, migration, and transformation to a phenotype that supports robust neurite outgrowth. Overexpression of TGF? in vivo by intraparenchymal adeno-associated virus injection adjacent to the injury site enhances cell proliferation, alters astrocyte distribution and facilitates increased axonal penetration at the rostral lesion border. To determine if endogenous EGFR activation is required after injury, SCI was also performed on Velvet (C57BL/6J-EgfrVel/J) mice, a mutant strain with defective EGFR activity. The affected mice exhibited malformed glial borders, larger lesions, and impaired recovery of function, indicating that intrinsic EGFR activation is necessary for neuroprotection and normal glial scar formation after SCI. By further stimulating precursor proliferation and modifying glial activation to promote a growth permissive environment, controlled stimulation of EGFR at the lesion border may be considered in the context of future strategies to enhance endogenous cellular repair following injury. PMID:22016551

White, Robin E.; Rao, Meghan; Gensel, John C.; McTigue, Dana M.; Kaspar, Brian K.; Jakeman, Lyn B.

2011-01-01

462

Upper extremity pain after spinal cord injury  

Microsoft Academic Search

Objective: Patients with spinal cord injury (SCI) may complain of upper extremity (UE) pain. The purpose of this study was to determine the frequency and severity of UE pain as well as its association with functional activities. Types of treatments that SCI patients received for UE pain and the benefits of these treatments were also identified. Study design and methods:

M Dalyan; DD Cardenas; B Gerard

1999-01-01

463

Gangliocytoma of the Cervicothoracic Spinal Cord  

Microsoft Academic Search

Summary: We present a case of an extensive cervicothoracic gangliocytoma in an asymptomatic 9-year-old boy with progres- sive scoliosis. MR findings were that of a moderately enhancing cervicothoracic intramedullary mass, which throughout most of its length could not be distinguished from the normal spinal cord.

Craig P. Russo; Douglas S. Katz; Robert J. Corona; Jeffrey A. Winfield

464

Depression following Traumatic Spinal Cord Injury  

Microsoft Academic Search

Objectives: To describe the epidemiology of depression following traumatic spinal cord injury (SCI) and identify risk factors associated with depression. Methods: This population-based cohort study followed individuals from date of SCI to 6 years after injury. Administrative data from a Canadian province with a universal publicly funded health care system and centralized databases were used. A Cox proportional hazards model

Donna M. Dryden; L. Duncan Saunders; Brian H. Rowe; Laura A. May; Niko Yiannakoulias; Lawrence W. Svenson; Donald P. Schopflocher; Donald C. Voaklander

2005-01-01