Sample records for split cord malformation

  1. Split cord malformation type I distal to segmental myelomeningocele.

    PubMed

    Addas, Bassam M

    2014-12-01

    The coexistence of myelomeningocele (MMC) and split cord malformation (SCM) is a well-known phenomenon. The SCM is usually above or at the level of the MMC. Split cord malformation distal to the MMC is considered to be the rarest form of such a combination. We report a case of SCM (type I) distal to the MMC diagnosed pre-operatively. Repair of the MMC and the SCM were carried out in the same setting. PMID:25551117

  2. Split cord malformation and situs inversus totalis: case report and review of the literature

    Microsoft Academic Search

    R. Shane Tubbs; John C. Wellons; W. Jerry Oakes

    2004-01-01

    Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. Case report The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis. Conclusions Recent compelling evidence from animal models and human case reports has led to hypotheses that

  3. Split cord malformation and situs inversus totalis: case report and review of the literature

    Microsoft Academic Search

    R. Shane Tubbs; John C. Wellons; W. Jerry Oakes

    2005-01-01

    Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. Case report The authors report a patient with situs inversus totalis and Type II split cord malformation. The patient had no symptoms and presented with scoliosis. Conclusions Recent compelling evidence from animal models and human case reports has lead to hypotheses that

  4. Association of Lhermitte-Duclos disease and split cord malformation in a child.

    PubMed

    Abi Lahoud, Georges; Chalouhi, Nohra; Zanaty, Mario; Rizk, Tony; Jabbour, Pascal

    2014-11-01

    Lhermitte-Duclos disease (LDD) or cerebellar gangliocytoma is a rare pathological entity, the etiology of which remains controversial. Numerous developmental anomalies are known to be associated with LDD, but the association between LDD and split cord malformation (SCM) has not been reported to our knowledge. We report LDD in a 3-year-old girl in whom repetitive urinary tract infections led to the diagnosis of a neurogenic bladder. Thorough screening revealed a SCM at the thoracic level which was surgically repaired. The pathogenesis of this entity and management strategies are discussed in this paper. PMID:24938384

  5. Silent neurenteric cyst with split cord malformation at conus medullaris: Case report and literature review.

    PubMed

    Srinivas, Hanuma; Kumar, Ashish

    2014-01-01

    Split cord malformations (SCM) are a common pediatric abnormality where children present with features of tethering and backache along with varying neurological deficits. Multiple neural tube defects may co-exist in children having defects of primary and/or secondary neurulation. Co-existent neurenteric cysts along with type 1 SCM have been described very rarely in the literature. We report a case of silent neurenteric cyst at conus medullaris with SCM type 1 where the cyst was missed in the preoperative imaging. Until date, only 8 such cases of neurenteric cysts with SCM at lumbar region have been reported. We review the literature regarding co-existing dual pathologies of neurenteric cysts and type 1 SCMs in light of limited capacity of imaging modalities to detect small neurenteric cysts in presence of co-existent neural tube defects. Multiple spinal neural tube defects in children need more attention and precise microneurosurgical skills as management differs in each of them. Co-existence of such pathologies detected intra-operatively may need modifications in preoperative planning to achieve the best possible outcomes. PMID:25624928

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

    PubMed

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

    2014-05-01

    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

  7. Arteriovenous malformation of the spinal cord in a 17-month-old child

    Microsoft Academic Search

    Tsuyoshi Tada; Keizo Sakamoto; Norio Kobayashi; Yuichiro Tanaka

    1985-01-01

    A case of arteriovenous malformation (AVM) of the cervical spinal cord occurring in a 17-month-old girl is reported. The initial symptom was quadriplegia of abrupt onset. Bilateral vertebral angiography disclosed 6 feeding arteries and a large draining vein. Complete obstruction of the blood supply to the AVM was confirmed angiographically, following cauterization and section of feeders via an anterior approach.

  8. Origin of spinal arteriovenous malformation and normal cord vasculature from a common segmental artery: angiographic and therapeutic considerations

    SciTech Connect

    Doppman, J.L.; Di Chiro, G.; Oldfield, E.H.

    1985-03-01

    The dural type of spinal arteriovenous malformation (AVM) can be cured by excision or by embolization of the nidus. The common origin of the blood supply to the malformation and to the cord from the same segmental artery would profoundly affect therapeutic choices. This anatomic situation was encountered in two of nine such lesions. The angiographic appearance and the importance of recognizing this common origin is discussed.

  9. Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

    PubMed

    Balci, S; Erçal, M D; Say, B; Atasü, M

    1993-07-01

    Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail hypoplasia in one and hypoplastic extra middle finger in another one). Dermatoglyphic studies were performed on ten cases. Increased whorl patterns of the finger tips and a single large palmar hypothenar whorl pattern associated with distally displaced axial triradii were detected. These have not previously been described. PMID:8287181

  10. Split cervical spinal cord with Klippel-Feil syndrome: seven cases.

    PubMed

    David, K M; Copp, A J; Stevens, J M; Hayward, R D; Crockard, H A

    1996-12-01

    We report seven cases of rare high cervical split spinal cord associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings we attempt to explain the origin of split cord and vertebral fusions. Two distinctly separate mechanisms are suggested for the development of split cords observed in our cases: a midline lesion bisecting the neuroepithelium and the notochordal plate could be responsible for complete splitting of the cervical cord with anterior bony defect while a localized disturbance of cervical neural tube closure would account for cases with partial dorsal splitting of the cord with posterior vertebral defect. Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. We confirm with our cases the frequent association of failure of normal segmentation and split cord in the cervical region. Clinically, only three patients had neurological deficit which was mild and has remained stable, and they had no radiological evidence of tethering; the minimal disproportionate growth of the cord and spine and the rarity of a bony spur in the cervical region are the likely reasons. A conservative policy was therefore pursued in these cases with careful long-term follow-up. PMID:9009993

  11. Boomerang deformity of cervical spinal cord migrating between split laminae after laminoplasty.

    PubMed

    Kimura, S; Gomibuchi, F; Shimoda, H; Ikezawa, Y; Segawa, H; Kaneko, F; Uchiyama, S; Homma, T

    2000-04-01

    Patients with cervical compression myelopathy were studied to elucidate the mechanism underlying boomerang deformity, which results from the migration of the cervical spinal cord between split laminae after laminoplasty with median splitting of the spinous processes (boomerang sign). Thirty-nine cases, comprising 25 patients with cervical spondylotic myelopathy, 8 patients with ossification of the posterior longitudinal ligament, and 6 patients with cervical disc herniation with developmental canal stenosis, were examined. The clinical and radiological findings were retrospectively compared between patients with (B group, 8 cases) and without (C group, 31 cases) boomerang sign. Moderate increase of the grade of this deformity resulted in no clinical recovery, although there was no difference in clinical recovery between the two groups. Most boomerang signs developed at the C4/5 and/or C5/6 level, where maximal posterior movement of the spinal cord was achieved. Widths between lateral hinges and between split laminae in the B group were smaller than in the C group. Flatness of the spinal cord in the B group was more severe than in the C group. In conclusion, the boomerang sign was caused by posterior movement of the spinal cord, narrower enlargement of the spinal canal and flatness of the spinal cord. PMID:10823431

  12. Split mesencephalon: diplomyelia of the basicranium.

    PubMed

    Jayasekera, Bodiabaduge A P; Pereira, Erlick A C; Magdum, Shailendra

    2014-06-01

    We report a novel case of congenitally split mesencephalon, in a 3-year old with hydrocephalus. We speculate that the ontogenetic mechanism is shared with split cord malformations (SCM). Our case adds to the two other cases of basicranial SCM which involved more caudal brainstem. PMID:23957778

  13. [Giant teratoma of the umbilical cord associated with foetal malformations: a morphological and cytogenetic study].

    PubMed

    Crahes, Marie; Patrier, Sophie; Ickowicz, Valentine; Blondiaux, Eléonore; Elbaz, Frédéric; Diguet, Alain; Laquerrière, Annie

    2013-02-01

    We report on an unusually large teratoma of the umbilical cord associated with multiple fetal anomalies. At 18 WG, an umbilical cord tumour was discovered by ultrasonography in a 38 year-old woman. A 2680 g female neonate (46, XX) was delivered at 37 WG by caesarean section. During surgery for exomphalos, a complete bowel malrotation, ischemic jejunal stenoses and bowel duplication were discovered. The tumor (2515 g) was a teratoma supplied by collaterals of the umbilical vein. Proliferative index calculated by flow cytometry was less than 10%. Tumor karyotype revealed several numerical anomalies with no structural abnormalities using multi-FISH analysis. Immunostaining for CEA and AFP were observed in endodermic derivatives of the duplication and associated with transient high levels of AFP in the blood. To our knowledge, it is the first case to be reported in the literature where karyotype, multi-FISH and FCM studies were available. PMID:23472897

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

    PubMed Central

    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

    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

  15. JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

    PubMed

    Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

    2015-07-01

    We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. PMID:25998214

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

    PubMed

    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

    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

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

    PubMed

    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

    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

  18. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

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

  19. Cerebral dysplastic vascular malformation: a developmental arrest

    SciTech Connect

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

    1983-08-01

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

  20. Chiari Malformation

    MedlinePLUS

    ... resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. ...

  1. The Chiari II malformation: Part IV. The hindbrain deformity

    Microsoft Academic Search

    T. P. Naidich; D. G. McLone; K. H. Fulling

    1983-01-01

    Computed tomography successfully delineates the multiple components of the Chiari II malformation at the craniocervical junction, the hindbrain, and the cervical spinal cord. These include wide foramen magnum and upper cervical spinal canal; incomplete fusions of the posterior arches of C1 and lower cervical vertebrae; cascading protrusions of vermis, fourth ventricle, medulla, and cervical cord into the spinal canal; cervicomedullary

  2. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    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

  3. Regional Ependymal Upregulation of Vimentin in Chiari II Malformation, Aqueductal Stenosis, and Hydromyelia

    Microsoft Academic Search

    Harvey B. Sarnat

    2004-01-01

    Vimentin, glial fibrillary acidic protein (GFAP) and S-100 ? protein were studied by immunocytochemistry in the ependyma of patients with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia. Paraffin sections of brains and spinal cords of 16 patients were examined, 14 with Chiari II malformations, most with aqueductal stenosis and\\/or hydromyelia as associated features, and 2 patients with congenital aqueductal

  4. [MRI of malformative syringomyelia. Descriptive and developmental aspect].

    PubMed

    Bekkali, F; Doyon, D; Idir, A B; Belal, N; Hurth, M; Ayache, B; Ducot, B

    1992-02-01

    132 cases of malformative syringomyelia have been studied at the C.I.E.R.M. (Interdepartmental Magnetic Resonance Center) of Bicêtre Hospital. The authors describe their technique for the exploration on the cord in case of suspected intramedullary cavitation, and emphasize the morphological and evolutive aspects of these abnormalities, whether they have been operated or not. PMID:1602436

  5. Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Capillary malformation-arteriovenous malformation syndrome (often shortened to CM-AVM ) On this ... August 2011 What is CM-AVM? Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the ...

  6. Cerebral Cavernous Malformation

    MedlinePLUS

    ... medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure CCM. NIH Patient Recruitment for Cavernous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  7. Management of Vascular Malformations

    PubMed Central

    Houbara, Seiji; Hirano, Akiyoshi

    2014-01-01

    Background: Even though vascular malformations are well categorized, further details are relatively unknown. Of treated patients regarding the frequency, demographic distributions, and other related factors by multivariate regression analyses in proportion to total vascular malformations, methods of treatment and how to manage them have not been elucidated thoroughly. Methods: From January 2006 to March 2012, consecutively treated patients with vascular anomalies were included in this investigation at least 1-year follow-up. Results: Of the total of 123 cases, 86 females and 37 males, the mean follow-up was 3.5?±?1.68 years, and the frequency of treatment was 1–8 times (1.8?±?1.30). Surgery was performed for 22 cases (17.9%) of venous malformations and arteriovenous malformations. In multivariate regression, the frequency of treatment was significantly correlated with the length of follow-up (P < 0.001), age (P < 0.05), and type of malformations (P < 0.05) (R2 = 0.18). Need for surgery was significantly increased with age at odds ratio (OR) of 1.06 [95% confidence interval (CI), 1.03–1.80] (P < 0.001), and head/face/neck, and upper limb are more performed at OR of 0.24 (95% CI, 0.07–0.85) (P < 0.05). The satisfaction score varied from 1 to 5 (3.9?±?0.68). Complications occurred in 3 cases (2.4%). In logistic regression of complications, the OR of the satisfaction score was 0.13 (95% CI, 0.02–0.80) (P < 0.05). Conclusions: Treatment of vascular malformations is an integral part of multidisciplinary approaches. Venous malformations are more frequent in combination surgery, and if there are fewer complications, the patients’ satisfaction increases. PMID:25289321

  8. Congenital spinal lipomatous malformations

    Microsoft Academic Search

    Natarajan Muthukumar

    2009-01-01

    Background  To report this author’s experience with patients with a congenital spinal lipomatous malformation with special emphasis on\\u000a variations in clinical presentation, operative findings, and outcome based on the classification scheme proposed in the first\\u000a part of this two part article.\\u000a \\u000a \\u000a \\u000a Methods  From January 1995 to July 2005, 80 patients with a congenital spinal lipomatous malformation were treated. All patients underwent\\u000a routine

  9. Peripheral Vascular Malformations

    Microsoft Academic Search

    Peter Littler; Peter Rowlands

    \\u000a Peripheral vascular malformations are uncommon lesions and are thought to be due to a focal persistence of primitive vascular\\u000a elements.\\u000a \\u000a \\u000a Vascular malformations are not neoplastic. They are subdivided into high-flow and low-flow lesions. High-flow lesions are\\u000a arterial; low-flow lesions are venous, capillary, or lymphatic.\\u000a \\u000a \\u000a \\u000a It is important that these lesions are evaluated and treated by a specialist with experience in

  10. [Multiple intracranial arteriovenous malformation].

    PubMed

    Gelabert-González, Miguel; Santin-Amo, José María; Román-Pena, Paula; Vázquez Herrero, Fernando

    2015-01-01

    Multiple cerebral arteriovenous malformations (AVMs) are thought to be exceedingly rare lesions and have usually been reported as single cases. The incidence of multiple cerebral AVMs in major series ranges from 0.3% to 9% and, in the majority of cases, these malformations are associated with other vascular anomalies of the brain or soft tissues. We report a 62-year-old woman that presented with a left temporal haemorrhage. Angiography showed 3 AVMs located in the left temporal lobe, left cerebellar hemisphere and right temporal lobe. The lesions were treated with radiosurgery. PMID:25596643

  11. Cardiovascular Malformations Among Preterm Infants

    Microsoft Academic Search

    Kirsty Tanner; Nilofer Sabrine; Christopher Wren

    2010-01-01

    Objective. Preterm birth and cardiovas- cular malformations are the 2 most common causes of neonatal and infant death, but there are no published population-based reports on the relationship between them. We undertook this study to determine the preva- lence and spectrum of cardiovascular malformations in a preterm population, the prevalence of prematurity among infants with cardiovascular malformations, and the influence

  12. Giant lymphatic malformation

    Microsoft Academic Search

    Sharon Tamir; Ronit Agid; Doron Halperin; Jean-Yves Sichel

    2006-01-01

    Lymphatic malformations (LM) are rare, often presenting as congenital abnormal growth of lymphatic vessels diagnosed most commonly in the pediatric population.We report a case of an adult women presenting with a giant LM of the neck and mediastinum reaching the upper part of the retroperitoneum, manifesting itself as bilateral supraclavicular neck masses accompanied with an abdominal mass.

  13. Lymphatic malformations: diagnosis and management.

    PubMed

    Elluru, Ravindhra G; Balakrishnan, Karthik; Padua, Horacio M

    2014-08-01

    Lymphatic malformations are benign vascular lesions that arise from embryological disturbances in the development of the lymphatic system. They encompass a wide spectrum of related abnormalities, including cystic lymphatic lesions, angiokeratoma, lymphatic malformations that occur in bones (Gorham-Stout Syndrome), lymphatic and chylous leak conditions, and lymphedema. This article will focus only on lymphatic malformation mass lesions, whereas other related disease entities will be covered elsewhere in this journal issue. Lymphatic malformations occur frequently in lymphatic-rich areas such as the head and neck region, but they can also be found on any anatomical site in the body. In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts contained within the lesion. Lymphatic malformations can cause both deformation of the anatomical site involved and functional deficits. The goal of this article is to discuss the etiology, epidemiology, treatment modalities, and comorbidities associated with lymphatic malformations. PMID:25241095

  14. Arteriovenous malformation management

    Microsoft Academic Search

    Wayne F. Yakes; Plinio Rossi; Henk Odink

    1996-01-01

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our\\u000a institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the\\u000a initial nonivasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is\\u000a performed under general anesthesia. Depending on the size

  15. Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings

    Microsoft Academic Search

    Chul Park; Byeong-Teck Kang; Jong-Hyun Yoo; Hee-Myung Park

    2009-01-01

    Three small breed dogs were referred for the evaluation of neurologic deficits. Upon physical and neurologic examination, all dogs displayed hyperesthesia, pain, and neck stiffness. Magnetic resonance imaging was performed on the brain and spinal cord, and all three dogs presented Chiari- like malformations and syringomyelia. These dogs were treated with prednisolone and furosemide, and showed rapid improvement of clinical

  16. Intra-arterial digital subtraction angiography of the spinal cord

    SciTech Connect

    Yeates, A.; Drayer, B.; Heinz, E.R.; Osborne, D.

    1985-05-01

    Digital subtraction angiography (DSA) of the spinal cord was performed in 6 patients using selective intra-arterial injections of contrast material. Two arteriovenous malformations of the spinal cord, 1 dural fistula, and 1 case of multiple hemangioblastomas were studied. Contrast and spatial resolution were satisfactory for defining normal and abnormal vascularity while reducing examination time, contrast dosage, patient discomfort, and film cost. The only significant limitation was misregistration artifacts seen on lateral views encompassing the diaphragm.

  17. Arteriovenous Malformation Management

    SciTech Connect

    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

    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.

  18. Brainstem cavernous malformations.

    PubMed

    Petr, O; Lanzino, G

    2015-09-01

    Of all cavernous malformations (CMs), 4% to 35% are found in the brainstem accounting for 13% of vascular malformations of the posterior fossa. The annual risk of hemorrhage associated with a CM with no history of a previous hemorrhagic episode is very low ranging from 0.6% to 1.1% per year. However, the risk of recurrent hemorrhage after a presenting bleed is significantly higher. There is a correlation between the extent of persistent neurological deficits and the number of recurrent hemorrhages as rehemorrhage increases the rate and severity of neurological deficits. Neurological deficits often improve after a hemorrhagic event spontaneously and sometimes resolve completely. The indication for surgery in patients with brainstem CMs is controversial. Over the years, we have taken a more cautious stance and we often recommend observation in patients after a single symptomatic bleed as most patients return to a good level of functioning after a single bleed. Surgery is recommended for more aggressive lesions usually after a recurrent bleed. In general, given the very low risk of bleeding from truly asymptomatic lesions, surgery should not be considered in these patients. For symptomatic lesions which have presented with hemorrhage, the decision of whether or not to proceed with surgical resection is related to the risk of surgery, patient's disposition and perceived risk of rebleeding. Favorable outcome can be achieved through surgical resection after an appropriate selection of the patients and thorough preoperative surgical planning. PMID:25943871

  19. Anencephaly and its Associated Malformations

    PubMed Central

    Meshram, Pritee Madan; Hattangdi, Shanta Sunil

    2014-01-01

    Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development. Aim: The present study was undertaken to find the associated congenital malformations in western region of India and establish a aetiological correlation. Materials and Methods: The study was conducted using 20 anencephalic fetuses. Results: Nearly 80% of fetuses had associated malformations. Spina bifida was seen in 9 fetuses and cleft palate in 8. Female fetus with cleft palate had other severe associated gastrointestinal and skeletal malformation. Conclusion: In cases of anencephaly other associated malfor–mations like spina bifida and cleft palate are commonly seen. PMID:25386414

  20. Management of cerebral cavernous malformations in the pediatric population: a literature review and case illustrations.

    PubMed

    Kosnik-Infinger, L; Carroll, C; Greiner, H; Leach, J; Mangano, F T

    2015-09-01

    Cavernous malformations (CM) are vascular malformations of the central nervous system that may occur in the brain and spinal cord. They are one of the four major types of vascular malformations that also includes developmental venous anomalies (DVA)s, arteriovenous malformations (AVMs), and capillary telangiectasias. CMs are a common vascular malformation, and 25% of them occur in the pediatric age group. They can present with acute or chronic symptoms including headache, neurologic deficits secondary to hemorrhage, mass effect, or epilepsy. This review will focus on the neurosurgical management of intracranial cavernous malformations in children. Pediatric CMs have special considerations different from CM that occur in the adult population which are highlighted throughout this review. Characteristics specific to pediatric CM epidemiology, genetics, presentation, pathology, location, size, epilepsy, and management will be discussed. Specific considerations must be entertained with the diagnosis of pediatric CM in that management needs to include consideration of the lifetime risk of hemorrhage, as well as the possibility of development of epilepsy. If in an accessible location, most cavernomas should be surgically removed in a timely fashion to provide lifelong cure for pediatric patients. The review closes with the discussion of two interesting cavernous malformation cases occurring in a 12-year old male and a 12-year old female that exhibit many of the important aspects specific to the management of a pediatric patient with CM, highlighting the importance of a multidisciplinary approach to treatment. PMID:25998208

  1. 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 ...

  2. Controversies in Chiari I malformations

    PubMed Central

    Baisden, Jamie

    2012-01-01

    Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures. PMID:22905329

  3. Imaging of congenital lung malformations.

    PubMed

    Chowdhury, Moti M; Chakraborty, Subhasis

    2015-08-01

    Congenital lung malformations are a heterogeneous group of anomalies that involve the lungs and tracheobronchial tree (congenital airway pulmonary malformation, bronchial atresia, bronchogenic cyst, congenital lobar overinflation, pulmonary cyst, hamartoma, pulmonary isomerism and azygous lobe), vascular abnormalities (arteriovenous malformations, anomalous pulmonary venous return, pulmonary artery sling, interrupted pulmonary artery, pulmonary varix, pulmonary vein stenosis and pulmonary lymphangiectasia), or frequently both entities (pulmonary sequestration, pulmonary maldevelopment and scimitar syndrome). Advances in diagnostic imaging (including sonography, multi-detector computer tomography, magnetic resonance imaging and angiography) have increased their detection during both antenatal and postnatal periods, and radiological characterisation, which in turn influence patient counselling and management stratification. An educational illustration of the clinical application in characterisation of these malformations is presented. PMID:26051049

  4. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  5. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

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

  6. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

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

  7. Intralesional radiofrequency in venous malformations.

    PubMed

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

    2015-03-01

    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

  8. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

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

    1985-08-01

    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.

  9. [Surgical treatment of lymphatic malformations].

    PubMed

    Lavie, A; Desouches, C; Casanova, D; Bardot, J; Magalon, G

    2006-01-01

    Lymphatic malformations remain a therapeutic challenge. Many treatments by the past led to poor success. The wide variety of clinical presentations makes it difficult to outline specific management programs. Often, diagnosis or complication circumstances as infection, bleeding, airway obstruction, or handicap force acting. Thus, a specific follow-up joined to a multidisciplinary analysis are the key of well-planned surgery. Through our experience and a review of literature, we will describe principles of lymphatic malformations surgery and specific technics for specific locations. PMID:17007979

  10. Spinal Cord Infarction

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Spinal Cord Infarction Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Spinal Cord Infarction? Spinal cord infarction is a stroke either ...

  11. Spinal Cord Injury

    MedlinePLUS

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

  12. 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 ...

  13. Spinal cord contusion

    PubMed Central

    Ju, Gong; Wang, Jian; Wang, Yazhou; Zhao, Xianghui

    2014-01-01

    Spinal cord injury is a major cause of disability with devastating neurological outcomes and limited therapeutic opportunities, even though there are thousands of publications on spinal cord injury annually. There are two major types of spinal cord injury, transaction of the spinal cord and spinal cord contusion. Both can theoretically be treated, but there is no well documented treatment in human being. As for spinal cord contusion, we have developed an operation with fabulous result. PMID:25206890

  14. Congenital malformations associated with anencephaly and iniencephaly

    Microsoft Academic Search

    T J David; A Nixon

    1976-01-01

    The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in

  15. The association of venous and cavernous malformations

    Microsoft Academic Search

    D. Rigamonti; R. F. Spetzler

    1988-01-01

    Summary Four cases of venous malformation associated with a cavernous malformation are reported. Because cavernous malformations are often angiographically occult and do not have a characteristic appearance on computed tomography (CT), they are seldom recognized preoperatively and may be missed if the surgical specimen is not carefully reviewed.

  16. FRUIT SPLIT

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  17. Arteriovenous malformations in Cowden syndrome.

    PubMed

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

    2005-08-01

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

  18. Arteriovenous malformation of the oral cavity.

    PubMed

    Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit

    2014-01-01

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

  19. Neuroimaging of cerebral cavernous malformations.

    PubMed

    Klostranec, J M; Krings, T

    2015-09-01

    Cerebral cavernous malformations (CCMs) are vascular malformations of the brain and brainstem that arise via a number of different mechanisms and can result in non-specific presentations. Therefore, medical imaging is essential in the diagnosis of these lesions and important to guide their clinical or surgical management. MRI is the modality of choice with newer protocols, such as susceptibility weighted imaging, playing an increasingly important role in the detection of CCMs. In this review we will discuss lesion structure, its proposed origins, and common lesion presentations and complications, before covering their expected appearances with different imaging modalities. We conclude with a discussion of insights about lesion behaviour acquired from advanced imaging techniques and provide a general approach to characterizing and diagnosing CCM lesions with neuroimaging. PMID:25968928

  20. The Chiari II malformation: cause and impact

    Microsoft Academic Search

    David G. McLone; Mark S. Dias

    2003-01-01

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

  1. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

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

  2. Chiari I malformation with holocord syrinx

    Microsoft Academic Search

    J Kumar; A Kumar; S Gupta

    2009-01-01

    We present the magnetic resonance imaging findings of a classical case of Chiari I malformation with holocord syringohydromyelia. The clinical presentation, imaging findings and treatment options are discussed.

  3. [Congenital vascular malformations (Hauert disease)].

    PubMed

    Hauert, J; Loose, D A; Dreyer, T; Obermayer, B; Deibele, A

    2012-06-01

    Patients with congenital vascular malformations often suffer from arthralgia, especially of the lower limbs. This orthopaedic disease pattern is defined as destructive, angiodysplatic arthritis or Hauert disease and leads to very early destruction of the joints. By presenting diagnostic and therapeutic algorithms, Hauert disease is emphasized as a possible differential diagnosis in order to minimize the risk of an incorrect diagnosis which might lead to under-, over-, or even incorrect treatment. A minimally invasive transathroscopic therapy in the early stages can lead to significant improvement of symptoms and prevention of progressive joint destruction. PMID:22699760

  4. Scalp arteriovenous malformations in young

    PubMed Central

    Gupta, Rakesh; Kayal, Akshat

    2014-01-01

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

  5. [Surgical treatment of arteriovenous malformations].

    PubMed

    Casanova, D; Bardot, J; Bartoli, J-M; Magalon, G

    2006-01-01

    MAV surgery remains still today one of most difficult in the surgery of vascular malformations. Embolisation the most selective possible follow-up of a surgical removal carrying the totality of the nidus is the only effective treatment. Usually, MAV of small size, quiescent, should not be operated, the surgery being reserved for the evolutionary or complicated forms. This surgical procedure must allow the complete eradication of the lesion without which the cure is not possible. The incomplete removal causes repetition, sometimes aggravation with, sometimes, life threatening problems. PMID:17007986

  6. 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 ...

  7. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Microsoft Academic Search

    Beverley Newman

    2006-01-01

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions

  8. A Framework for Detecting Malformed SMS Attack

    Microsoft Academic Search

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

    2011-01-01

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

  9. Cerebellar malformations: some pathogenetic considerations.

    PubMed

    Urich, H

    1979-01-01

    1) Destructive processes are responsible for most cases of cerebellar microgyria of the trabecular pattern. Erosion and subsequent fusion of the folia produce the disorganized pattern in which the various cellular elements retain their noraml relationship and are capable of normal maturation. Intrauterine infection is responsible for most cases; the evidence is conclusive in some cases, presumptive in others. 2) Faulty genetic coding, as illustrated by the trisomies, may lead to formation of heterotopias. The primitive cells aggregating around the dentate nucleus should be interpreted as matrix cells and not as cells of the external granular layer. Cortical heterotopias with attempted internal organisation also occur; their origin is obscure. The unusual, possibly unique, transposition of the internal granular and Purkinje cell layers observed in one case may be ascribed to faulty formation of the Bergmann glia by analogy with the weaver mouse. 3) It is impossible at present to disentangle the role of genetic and environmental factors in the pathogenesis of the hysraphic malformations. It is possible, however, that defective fusion of the intraventricular cerebellar primordium plays a part in the development of the Dandy-Walker malformation, of midine cerebellar clefts in some cases of occipital encephalocele, and of extra-axial ependymal cysts of the posterior fossa. PMID:233076

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

    PubMed

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

    2014-12-01

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

  11. A gene map of congenital malformations.

    PubMed Central

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

    1994-01-01

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

  12. Cephalic Pancreaticoduodenectomy for Bleeding Duodenal Arteriovenous Malformation

    PubMed Central

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

    2014-01-01

    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

  13. Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings

    Microsoft Academic Search

    I Vargel; P KIRATLI; D AKINCI; Y ERK

    2004-01-01

    Benign vascular lesions can be classified into two categories depending on clinical behaviour and endothelial cell characteristics: neoplasms (haemangiomas) and vascular malformations. However, intraosseous vascular anomaly, previously called intraosseous haemangioma, is a very rare malformation. In our previous study, we described the first hereditary form of intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS). Characteristic findings are

  14. Spinal arteriovenous malformation associated with spinal metameric syndrome: a treatable cause of long-term paraplegia?

    PubMed

    Linfante, Italo; Tari Capone, Francesca; Dabus, Guilherme; Gonzalez-Arias, Sergio; Lau, Patricio E; Samaniego, Edgar A

    2012-04-01

    Cutaneomeningospinal angiomatosis, or Cobb syndrome, is a rare metameric developmental disorder presenting as an extradural-intradural vascular malformation that involves bone, muscle, skin, spinal cord, and nerve roots. A 14-year-old girl with a red nevus involving the T6-9 dermatomes on the left side of her back presented with a 5-year history of bowel and bladder incontinence, paraplegia, and lower-extremity sensory loss. Magnetic resonance imaging demonstrated a hemangioma in the T-8 and T-9 vertebral bodies and a spinal cord AVM nidus extending from T-6 to T-9. The AVM was successfully embolized and the patient regained lower-extremity strength, ambulation, and normal sphincter functions after 5 years of having been wheelchair bound. The authors report the restoration of ambulation after endovascular embolization of a large spinal AVM in a patient with long-standing paraplegia due to Cobb syndrome. PMID:22225485

  15. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  16. Genetics Home Reference: Cerebral cavernous malformation

    MedlinePLUS

    ... and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a ... cell ; central nervous system ; cerebral hemorrhage ; CNS ; cutaneous ; elastic ; familial ; family history ; gene ; hemangioma ; hemorrhage ; inheritance ; malformation ; ...

  17. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

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

  18. Pediatric Spinal Cord Injury 101

    MedlinePLUS Videos and Cool Tools

    ... Injury 101 The Basics of Spinal Cord Injury Rehabilitation Preventing Pressure Sores Transition from Hospital to Home ... Cord Injury 101 The Basics of Pediatric SCI Rehabilitation Transitions for Children with Spinal Cord Injury What's ...

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

    E-print Network

    Hall, Julie Maria

    2014-07-05

    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 ...

  20. Cord-Blood Banking

    MedlinePLUS

    ... match in these cases. Back Continue Is Banking Right for You? If you are considering banking your newborn's cord blood, be sure to discuss your options with your obstetrician. Here are a few questions to consider before choosing a cord-blood bank: What are the pros and cons of public ...

  1. Extensive mixed vascular malformation clinically imitating multiple sclerosis--case report.

    PubMed

    Rafalowska, J; Dziewulska, D; Podlecka, A; Zakrzewska-Pniewska, B

    2006-01-01

    Vascular malformations usually develop as a result of influence of teratogenic factor(s) acting in the defined embryonic/fetal period. However, in the case examined by us, various types of vascular malformations formed in different periods of the ontogenic development were found. They were seen in all parts of the central nervous system and clinically mimicked multiple sclerosis. On the background of generalized ischemic lesions of the CNS, certain kinds of vascular malformations were seen: cavernous or fetallike vessels within meninges, superficially located capillary angioma penetrating into the brain and spinal cord white matter, and arterio-venous pathological conglomerates forming meningeal angiomatosis. In pathological vessels, immunocytochemical assessment of vascular endothelium with antibodies against antigens CD31, CD34, von Willebrand factor and lectin Ulex europaeus was normal but examination of the vascular basal membrane compounds revealed poor immunoreactivity to laminin and fibronectin. There were no disturbances in expression of angiopoietin, platelet-derived growth factor, transforming growth factor beta and vascular endothelial growth factor receptors Tie-1/2, PDGFR-alpha/beta, endoglin and Flk-1, respectively. The presence of various types of pathological vessels originating from different ontogenic periods indicates remittent or prolonged influence of teratogenic factor(s) in all periods of fetal vessel development. PMID:17007447

  2. [The lymphatic malformations: clinical aspects and evolution].

    PubMed

    Salazard, B; Londner, J; Casanova, D; Bardot, J; Magalon, G

    2006-01-01

    Lymphatic malformations (LM) are the most frequent vascular malformations. There are three types of lesions involving lymphatic development that must be included in LM: vascular anomalies and knots (truncal malformations [TLM]); cystic anomalies, superficial or deep, uni- or multicystic (extratruncal malformations [ETLM]) and hemolymphatic anomalies which combine venous, arterial, or capillary malformations with LM. ETLM can be ubiquitously distributed but most are located in the cervical or axillary regions. Most ETLM are diagnosed at birth and in 80-90% of the cases before the age of 2. The clinical aspects are extremely variable: superficial ETLM (vesicular) and deep ETLM, localised or diffuse, mono- or multicystic. TLM are generally located on a lower limb with neonatal lymphatic oedema (often in a polymalformation context). All forms of the hemolymphatic combination can be identified. They are generally located on the limbs and are often unilateral. They are usually sporadic but can also be can be found in polymalformation syndromes (Klippel-Trénaunay, Parkes-Weber, Protée, Maffucci). ETLM generally tend to increase in volume and spread with age with stabilisation at puberty. They do not tend to spontaneously regress. Specific local complications can have serious consequences. They are linked to haemorrhaging, infections and compression phenomena. There can also be complications such as skeletal and soft tissue hypertrophy. PMID:17007978

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

    PubMed Central

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

    2010-01-01

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

  4. A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

    PubMed

    Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques

    2014-01-01

    Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. PMID:24833506

  5. Nonsurgical management of vascular malformation of masseter.

    PubMed

    Jayaraman, Venkatesh; Austin, Ravi David; Kannan, Saravanan

    2015-01-01

    Intramuscular vascular anomalies are rare congenital hamartomatous lesions. Less than 1% of these occur in skeletal muscle out of which 15% arise in head and neck musculature. In the head and neck region, masseter muscle is the most common site. It accounts for about 5% of intramuscular vascular malformations. They are present from birth but are clinically apparent during infancy and childhood and occasionally during adulthood. Due to its location it is often mistaken for a parotid swelling. The usual treatment of choice is surgical excision with a margin. This is associated with loss of motor function, hemorrhage, nerve damage. Intralesional sclerotherapy, embolization are nonsurgical alternatives for treatment of slow flow venous malformations. Sclerotherapy can be used solely in multiple sittings or as an adjunct to surgery. This article presents a case report of a 28-year-old male with recurrent intramuscular vascular malformation in the masseter muscle, which was successfully treated by ethanol sclerotherapy. PMID:25961625

  6. The epidemiology of brain arteriovenous malformations in adults 

    E-print Network

    Al-Shahi, Rustam

    Arteriovenous malformations (AVMs) of the brain are part of the spectrum of intracranial vascular malformations (IVMs). They are the leading cause of intracerebral haemorrhage in young adults, they account for ~10% of non-traumatic subarachnoid...

  7. Massive localised lymphoedema: a rare vascular malformation

    PubMed Central

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

    2013-01-01

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

  8. Extrapyramidal dysfunction with cerebral arteriovenous malformations 1

    PubMed Central

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

    1974-01-01

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

  9. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    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

    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.

  10. Genetics Home Reference: Microcephaly-capillary malformation syndrome

    MedlinePLUS

    ... with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; breakdown ; capillaries ; cell ; degrade ; developmental ...

  11. Experimental studies on the tensile properties of human umbilical cords.

    PubMed

    Tantius, Britta; Rothschild, Markus A; Valter, Markus; Michael, Joern; Banaschak, Sibylle

    2014-03-01

    When tried in court, mothers accused of neonaticide may claim that the umbilical cord just broke during birth and the newborn child bled to death accordingly. To evaluate the possibility of a breakage of the umbilical cord is the goal of this work. Therefore 25 umbilical cords from neonates of both sexes born at term were stretched using an electrically operated material testing machine and the energy necessary to break them was measured. This experimental set-up equals a static strain, not a dynamic one. The maximum force endured (F max) ranged from 37.24 N to 150.04 N. The average force endured was 79.87 N with a standard deviation of 27.39. The elongation at break varied from 13.24% to a maximum of 119.93%. We found no relationship between the force endured and any of the following parameters: birth weight, pH of the venous umbilical blood, diameter of cord, free length under testing, duration of pregnancy or the mother's age. We performed a literature research and tried to define the circumstances in which a break is more likely to occur, these being malformations, entanglement or disease, e.g. inflammation. PMID:24529770

  12. Cord blood testing

    MedlinePLUS

    ... the cord blood may be found if the mother has diabetes. The newborn will be watched for hypoglycemia (low blood sugar) after delivery. High levels of bilirubin could be due ... Mother taking sulfa drugs during pregnancy Rh incompatibility ...

  13. Spinal Cord Injury

    MedlinePLUS

    ... with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and ... given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities ...

  14. Umbilical cord blood transplantation

    Microsoft Academic Search

    Demetrios Petropoulos; Ka Wah Chan

    2005-01-01

    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

  15. Umbilical cord blood transplantation

    Microsoft Academic Search

    Demetrios Petropoulos; Ka Wah Chan

    2006-01-01

    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

  16. Interventional treatment of pulmonary arteriovenous malformations.

    PubMed

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-09-28

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT. PMID:21160695

  17. Traitement chirurgical des malformations lymphatiques

    Microsoft Academic Search

    A. Lavie; C. Desouches; D. Casanova; J. Bardot; G. Magalon

    2006-01-01

    Lymphatic malformations remain a therapeutic challenge. Many treatments by the past led to poor success. The wide variety of clinical presentations makes it difficult to outline specific management programs. Often, diagnosis or complication circumstances as infection, bleeding, airway obstruction, or handicap force acting. Thus, a specific follow-up joined to a multidisciplinary analysis are the key of well-planned surgery. Through our

  18. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanis?aw; Gierach, Marcin; Gierach, Joanna; ?wi?taszczyk, Cyprian; Junik, Roman; Lasek, W?adys?aw

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  19. Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants.

    PubMed

    Takano, T; Becker, L E

    1997-02-01

    The ependyma of the spinal central canal in cases of hydrocephalus shows abnormalities which vary with the aetiology of ventricular dilatation. To determine whether these ependymal changes are developmental or reactive in nature, immunohistochemical findings were compared between nine normal controls and 12 cases of hydrocephalus (three each of congenital aqueductal stenosis. Dandy-Walker malformation, Chiari type II malformation, and post-haemorrhagic hydrocephalus) using antisera to nestin, vimentin and glial fibrillary acidic protein. The main pathological findings were disruption of ependymal layer, apparent pseudostratification of ependyma, expansion, cleft or syrinx formation in relation to the central canal, and ependymal rosette formation. In normal developing fetal spinal cord, nestin and vimentin were expressed mainly in pseudostratified ependymal cells and radial fibres in the median septum. In cases with congenital hydrocephalus (congenital aqueductal stenosis. Dandy-Walker malformation, and Chiari type II malformation), nestin was overexpressed in immature ependymal cells, and strong vimentin immunoreactivity was detected in the long tract of radial fibres in the median septum. Nestin and vimentin were also expressed in small cells and their fibres which covered areas denuded of ependymal cells in cases of Chiari type II malformation and post-haemorrhagic hydrocephalus. Two conclusions are suggested by this report. First, the ependyma of the spinal central canal in congenital hydrocephalus shows a delay in maturation of radial glial cells into mature astrocytes and ependymal cells. Second, areas of ependymal denudation may be repaired by the immature glial cells derived from subependymal cells. PMID:9061685

  20. What Is Spinal Cord Injury?

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Spinal Cord Injury (SCI): Condition Information Skip sharing on social ... with SCI is the lowest point on the spinal cord below which sensory feeling and motor movement diminish ...

  1. Living with Spinal Cord Injury

    MedlinePLUS

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

  2. Spinal Cord Injury Prevention Tips

    MedlinePLUS

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

  3. Thermocouple split follower

    DOEpatents

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

    1980-01-01

    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.

  4. Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations

    PubMed Central

    Nishioka, Yujiro; Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Arita, Junichi; Sakamoto, Yoshihiro; Hasegawa, Kiyoshi; Kokudo, Norihiro

    2015-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations.

  5. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

    The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution. PMID:22826821

  6. Treatment of arteriovenous malformations of the brain

    Microsoft Academic Search

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

    2007-01-01

    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

  7. Two patients with proatlas segmentation malformation

    Microsoft Academic Search

    Shangchen Xu; Qi Pang; Kaining Zhang; Hu Zhang

    2010-01-01

    A 58-year-old female and an 18-year-old male patient had progressive spastic quadriparesis of 10 years and 6 months duration, respectively. Proatlas segmentation malformation (PSM) was confirmed using three-dimensional (3D) reconstructive CT scans and MRI. Surgical procedures in one patient involved anterior decompression via a transoropharyngeal approach, cranial traction, and posterior occipital–cervical fixation and fusion. His postoperative neurological status had improved

  8. Spinal Cord Injury

    NSDL National Science Digital Library

    Patient Education Institute

    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.

  9. Complex malformation of the inferior vena cava.

    PubMed

    Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D

    2014-01-01

    Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422

  10. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

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

  11. The atrioventricular junctions in Ebstein malformation

    PubMed Central

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

    2000-01-01

    OBJECTIVE—To review the anatomical structure of the right atrioventricular junction, including the specialised atrioventricular conduction system, in hearts with Ebstein's malformation, to identify potential substrates for the abnormalities in conduction.?METHODS—Five heart specimens representing the morphological spectrum of Ebstein malformation were examined grossly and histologically.?RESULTS—On the endocardial surface, the atrioventricular junction was marked by a faint line in two hearts, and by a small ridge in the other three. Analysis of the right parietal junction in four hearts revealed only two accessory muscular atrioventricular connections. A plane of fibrofatty tissue separated atrial from ventricular myocardium in the right parietal junction in all hearts. The compact atrioventricular node was closer to the coronary sinus than usual. Accessory nodoventricular connections were present in four hearts, while accessory fasciculo-ventricular connections were found in one. The right bundle branch was hypoplastic or absent in four hearts.?CONCLUSIONS—In this small series, the parietal atrioventricular junction was better developed than previously thought. Structural abnormalities of the atrioventricular conduction system, however, were present. These may account for some of the conduction abnormalities frequently observed with the Ebstein malformation.???Keywords: Ebstein's anomaly; atrioventricular node; bundle branch block; Wolff-Parkinson-White syndrome PMID:10722549

  12. Umbilical cord knots and encirclements.

    PubMed

    McLennan, H; Price, E; Urbanska, M; Craig, N; Fraser, M

    1988-05-01

    Although cord knots and/or encirclements account for 1 in 10 stillbirths of infants weighing 2,500 g or more, no problem due to this cause was encountered in a prospective study of 1,115 vaginal deliveries. In this study there were 6 cases of cord knot (0.5%) and 158 of cord encirclement (14.2%). The range of cord length was 27-122 cm, the 10th, 50th and 90th percentiles being 40, 52 and 69 cm respectively. In this study there was no clinical warning (fetal distress) of cord encirclement or knot during pregnancy, labour or delivery. PMID:3228405

  13. Anterior spinal cord syndrome of unknown etiology

    PubMed Central

    Klakeel, Merrine; Thompson, Justin; McDonald, Frank

    2015-01-01

    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

  14. Spinal cord injury

    Microsoft Academic Search

    Bob Winter; Hina Pattani

    2008-01-01

    The annual incidence of acute spinal cord injury in the UK is 15–40 cases per million. More than half these injuries are the result of road traffic accidents, with falls, industrial accidents, sports or violence making up most of the remainder. Violent injury accounts for only a small percentage of cases in this country. The typical patient is male (male

  15. Spinal cord injury

    Microsoft Academic Search

    Bob Winter; Hina Pattani

    2011-01-01

    The annual incidence of acute spinal cord injury in the UK is 15–40 cases per million. More than half of these injuries are the result of road traffic accidents, with falls, industrial accidents, sports or violence making up most of the remainder. Violent injury accounts for only a small percentage of cases in the UK. The typical patient is male

  16. Acute Spinal Cord Injury.

    PubMed

    Witiw, Christopher D; Fehlings, Michael G

    2015-07-01

    Our understanding of the pathophysiological processes that comprise the early secondary phases of spinal cord injury such as spinal cord ischemia, cellular excitotoxicity, ionic dysregulation, and free-radical mediated peroxidation is far greater now than ever before, thanks to substantial laboratory research efforts. These discoveries are now being translated into the clinical realm and have led to targeted upfront medical management with a focus on tissue oxygenation and perfusion and include avoidance of hypotension, induction of hypertension, early transfer to specialized centers, and close monitoring in a critical care setting. There is also active exploration of neuroprotective and neuroregenerative agents; a number of which are currently in late stage clinical trials including minocycline, riluzole, AC-105, SUN13837, and Cethrin. Furthermore, new data have emerged demonstrating that the timing of spinal cord decompression after injury impacts recovery and that early decompression leads to significant improvements in neurological recovery. With this review we aim to provide a concise, clinically relevant and up-to-date summary of the topic of acute spinal cord injury, highlighting recent advancements and areas where further study is needed. PMID:26098670

  17. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents - diagnosis, clinic, and therapy.

    PubMed

    Eivazi, Behfar; Werner, Jochen A

    2014-01-01

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

  18. Intraosseous mandibular artero-venous malformations: case report.

    PubMed

    Siniscalchi, Enrico Nastro; Minutoli, Fabio; Catalfamo, Luciano; Romano, Fabio; Longo, Marcello; De Ponte, Francesco Saverio

    2009-03-01

    Intraosseous mandibular artero-venous malformations (AVMs) are rare (5% of all vascular malformations) but of great clinical importance. They can lead to dental emergencies and may cause disfigurement, morbidity, and even death. We describe the radiological appearance and the endovascular treatment of a rare high-flow vascular malformation of the mandibular body resembling a dental cyst, embolized by Guglielmi's detachable coils (GDC). PMID:19027310

  19. Macrocephaly–capillary malformation syndrome: Three new cases

    Microsoft Academic Search

    Inusha Panigrahi; Mani Bhushan; Mukesh Yadav; Niranjan Khandelwal; Pratibha Singhi

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and\\/or

  20. Occlusive vascular disease associated with cerebral arteriovenous malformations

    SciTech Connect

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

    1984-11-01

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

  1. Associated malformations among infants with neural tube defects.

    PubMed

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

    2011-03-01

    Infants with neural tube defects (NTDs) often have associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695

  2. Bilateral cerebellar dysplastic gangliocytomas (lhermitte duclos disease) with cerebellar ectopia and presyrinx cord changes. A case report.

    PubMed

    Puri, A S; Garg, A; Mishra, N K; Gaikwad, S B; Mehta, V S; Cirillo, S

    2007-01-31

    Lhermitte-Duclos disease (LDD) is a rare cerebellar lesion with features of both malformation and benign neoplasm. However, the fundamental nature of the entity, its pathogenesis, and the exact genetic alterations remain unknown. We describe a rare case of bilateral LDD with cerebellar ectopia and presyrinx spinal cord changes. Bilaterality of lesions should argue against a neoplastic origin and support a hamartomatous origin. PMID:24351297

  3. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

    PubMed Central

    Eerola, Iiro; Boon, Laurence M.; Mulliken, John B.; Burrows, Patricia E.; Dompmartin, Anne; Watanabe, Shoji; Vanwijck, Romain; Vikkula, Miikka

    2003-01-01

    Capillary malformation (CM), or “port-wine stain,” is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations “CM-AVM,” for capillary malformation–arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. PMID:14639529

  4. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

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

    2009-01-01

    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

  5. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

    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

    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

  6. Minimal Split Completion of

    E-print Network

    Fomin, Fedor V.

    of the maximum independent set of G. (G) is the size of the maximum clique of G. #12;Minimal Split Completion = I + K of its vertex set into an independent set I and a clique K. #12;Minimal Split Completion is a split graph if there is a partition V = I + K of its vertex set into an independent set I and a clique K

  7. Surgical management of pediatric cerebral arteriovenous malformations

    Microsoft Academic Search

    David Rubin; Alejandro Santillan; Jeffrey P. Greenfield; Mark Souweidane; Howard A. Riina

    2010-01-01

    Background  Arteriovenous malformations (AVMs) are the most common cause of intracerebral hemorrhage in children. Different options exist\\u000a for their successful management consisting of surgery, endovascular embolization, stereotactic radiosurgery, or a combination\\u000a of these treatments.\\u000a \\u000a \\u000a \\u000a \\u000a Discussion  In this paper, we discuss the different treatment modalities in the treatment of pediatric cerebral AVMs emphasizing the role\\u000a of surgery and endovascular embolization as a preoperative

  8. Management of unbled brain arteriovenous malformation study.

    PubMed

    Mohr, J P; Yaghi, Shadi

    2015-05-01

    In a recent trial limited to arteriovenous malformations discovered not to have bled, medical management was superior to medical management plus intervention. The trial was halted after 226 randomizations and a mean follow-up of 3.3 years owing to a disparity favoring the medical arm. Eligible patients were selected as suitable for lesion eradication. The initial sample size of 800 and follow-up plans for a mean of 7 years were lowered and shortened, respectively, by the outcome data. An application for extended follow-up was given poor priority scores owing to estimations that the disparities in outcomes would not change significantly. PMID:25907910

  9. Pediatric aneurysms and vein of Galen malformations

    PubMed Central

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  10. Malignant spinal cord compression

    Microsoft Academic Search

    Madhuri Yalamanchili; Glenn J. Lesser

    2003-01-01

    Opinion statement  Malignant spinal cord compression is one of the most dreaded complications of cancer. If untreated, it can lead to worsening\\u000a neurologic function culminating in paralysis and sphincter incontinence. The most challenging aspect in the management of\\u000a this complication is early diagnosis because the single most important factor determining outcome is the level of neurologic\\u000a function at initiation of therapy.

  11. Longterm followup in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary

    E-print Network

    Institut des Sciences Cognitives, CNRS

    Longterm followup in 12 children with pulmonary arteriovenous malformations: confirmation@yahoo.fr OBJECTIVE: To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary

  12. History, anatomic forms, and pathogenesis of Chiari I malformations

    Microsoft Academic Search

    Edgardo Schijman; C. Durand

    2004-01-01

    IntroductionChiari I malformations constitute a group of entities of congenital or acquired etiology that have in common descent of the cerebellar tonsils into the cervical spinal canal. In recent years, since the advent of magnetic resonance imaging, an increasing number of asymptomatic, doubtfully symptomatic, and minimally symptomatic patients with Chiari I malformations have been diagnosed. This has resulted in controversy

  13. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

    PubMed Central

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

    2005-01-01

    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

  14. COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS

    Microsoft Academic Search

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

    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

  15. MASCIS Spinal Cord Contusion Model

    Microsoft Academic Search

    Wise Young

    The impactor is the most widely used rodent spinal cord injury model. The Multicenter Animal Spinal Cord Injury Study (MASCIS)\\u000a adopted the model in 1993 and standardized protocols for anesthesia, surgery, spinal cord contusion, and post-injury care\\u000a of rats, as well as specific outcome measures. The MASCIS model stipulates Long-Evan's hooded rats that are 77 ± 1-day old\\u000a and anesthetized

  16. Metabolic characteristics of cortical malformations causing epilepsy

    PubMed Central

    Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.

    2009-01-01

    Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity. PMID:15868069

  17. Banana Split Oatmeal Ingredients

    E-print Network

    Liskiewicz, Maciej

    Banana Split Oatmeal Ingredients: 1/3 cup quick cooking oats 3/4 cup water, very hot 1/2 banana the cereal reaches the desired thickness. Stir again. 4. Peel banana and cut into slic- es, and place on top of oat- meal. 5. Add yogurt to top. 6. The banana split oatmeal can also be a snack by itself. Equipment

  18. Mid-hindbrain malformations due to drugs taken during pregnancy.

    PubMed

    Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva

    2014-04-01

    Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117

  19. Transplant Outcomes (Bone Marrow and Cord Blood)

    MedlinePLUS

    ... Index | Questions? BC Home Transplant Resources Donor Information Cord Blood Information Research, Data, & Outcomes About Transplant Outcomes & Data Cord Blood Units for Research Donor Registry Data Citation Guidelines ...

  20. Transposition of external genitalia and associated malformations.

    PubMed

    Meguid, Nagwa Abdel; Temtamy, Samia A; Mazen, Inas

    2003-01-01

    We report three Egyptian boys from three different families born with penoscrotal transposition (PST). None of them fell into categories of known syndromes, associations, sequences or chromosome disorders. Other malformations observed included renal, genital, cardiovascular and limb defects. Although the occurrence of most reported cases of PST are sporadic, three families with affected sibs have been reported in the literature where parental consanguinity was not specified. Parental consanguinity is present in two of our three cases with young parental age suggesting the possibility of an autosomal recessive pattern of inheritance. A history of maternal hormonal treatment early in pregnancy in one of our cases may suggest a role of teratogenic agents. We conclude that PST may represent only a part of a wide spectrum of anomalies resulting from a major insult occurring during early embryonic development and is of heterogeneous etiology. PMID:12514368

  1. Two patients with proatlas segmentation malformation.

    PubMed

    Xu, Shangchen; Pang, Qi; Zhang, Kaining; Zhang, Hu

    2010-05-01

    A 58-year-old female and an 18-year-old male patient had progressive spastic quadriparesis of 10 years and 6 months duration, respectively. Proatlas segmentation malformation (PSM) was confirmed using three-dimensional (3D) reconstructive CT scans and MRI. Surgical procedures in one patient involved anterior decompression via a transoropharyngeal approach, cranial traction, and posterior occipital-cervical fixation and fusion. His postoperative neurological status had improved remarkably, with imaging showing good realignment of the occipito-atlanto-axial complex with comfortable decompression of the cervico-medulla junction and relief of syringomyelia. MRI and 3D-CT scans are the definitive diagnostic tools for PSM, and appropriate aggressive surgical intervention should be undertaken. PMID:20188566

  2. Computational analyses of arteriovenous malformations in neuroimaging.

    PubMed

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

    2015-05-01

    Computational models have been investigated for the analysis of the physiopathology and morphology of arteriovenous malformation (AVM) in recent years. Special emphasis has been given to image fusion in multimodal imaging and 3-dimensional rendering of the AVM, with the aim to improve the visualization of the lesion (for diagnostic purposes) and the selection of the nidus (for therapeutic aims, like the selection of the region of interest for the gamma knife radiosurgery plan). Searching for new diagnostic and prognostic neuroimaging biomarkers, fractal-based computational models have been proposed for describing and quantifying the angioarchitecture of the nidus. Computational modeling in the AVM field offers promising tools of analysis and requires a strict collaboration among neurosurgeons, neuroradiologists, clinicians, computer scientists, and engineers. We present here some updated state-of-the-art exemplary cases in the field, focusing on recent neuroimaging computational modeling with clinical relevance, which might offer useful clinical tools for the management of AVMs in the future. PMID:25521662

  3. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

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

    2013-11-01

    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.

  4. Pulmonary arteriovenous malformations and their mimics.

    PubMed

    Gill, S S; Roddie, M E; Shovlin, C L; Jackson, J E

    2015-01-01

    Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between the pulmonary arteries and veins, which result in a right-to-left (R-L) shunt with resultant hypoxemia, the severity of which will depend upon the size and number of lesions. Most PAVMs occur in individuals with hereditary haemorrhagic telangiectasia (HHT) and are a cause of serious morbidity and mortality largely related to cerebrovascular complications secondary to paradoxical embolization. The importance of their recognition and treatment by embolization, even in the absence of symptoms, is well known. Their appearances on chest radiographs are often, but not always, characteristic and the CT appearances are diagnostic; however, there are a number of both vascular and non-vascular diseases that can cause confusion. This review serves to highlight these PAVM "mimics". PMID:25443645

  5. Cutting the Cord-2

    NASA Technical Reports Server (NTRS)

    2004-01-01

    This animation shows the view from the rear hazard avoidance cameras on the Mars Exploration Rover Spirit as the rover turns 45 degrees clockwise. This maneuver is the first step in a 3-point turn that will rotate the rover 115 degrees to face west. The rover must make this turn before rolling off the lander because airbags are blocking it from exiting from the front lander petal. Before this crucial turn took place, engineers instructed the rover to cut the final cord linking it to the lander. The turn took around 30 minutes to complete.

  6. Cutting the Cord

    NASA Technical Reports Server (NTRS)

    2004-01-01

    This animation shows the view from the front hazard avoidance cameras on the Mars Exploration Rover Spirit as the rover turns 45 degrees clockwise. This maneuver is the first step in a 3-point turn that will rotate the rover 115 degrees to face west. The rover must make this turn before rolling off the lander because airbags are blocking it from exiting off the front lander petal. Before this crucial turn could take place, engineers instructed the rover to cut the final cord linking it to the lander. The turn took around 30 minutes to complete.

  7. [Surgical treatment of vascular malformations in children and adolescents].

    PubMed

    Haxhija, E Q; Spendel, S; Höllwarth, M E

    2009-04-01

    Vascular malformations are inborn errors of vasculogenesis in localised regions of the body. They are present at birth and grow proportionally with the child without ever showing any tendency to regress. This fact distinguishes them clearly from haemangiomas, which represent vascular tumours with high proliferation during the first year of life followed by a slow involution thereafter. The strategy for the treatment of vascular malformations differs substantially from the one for haemangiomas. According to the type of vascular malformation, the treatment may consist in laser therapy, sclerotherapy, selective embolisation, and/or surgical resection. Whereas systemic medication may save the life of children with life-threatening haemangiomas, such treatment would have no significant effect in children with vascular malformations. The aim of the surgical treatment is to perform a complete resection of the malformation in order to prevent its recurrence. However, since vascular malformations often have an infiltrative growth, frequently only subtotal resections can be performed to avoid unacceptable functional or cosmetic disfigurement of the body. Generally, an optimal management of children with vascular malformations includes a multidisciplinary approach with critical consideration of all potential treatment procedures. PMID:19085820

  8. Localization and treatment of lingual venous and arteriovenous malformations.

    PubMed

    Wiegand, Susanne; Tiburtius, Janna; Zimmermann, Annette P; Güldner, Christian; Eivazi, Behfar; Werner, Jochen A

    2014-02-01

    Venous and arteriovenous malformations of the tongue can cause haemorrhage, airway obstruction, difficulties in chewing and swallowing, speech problems as well as orthodontic abnormalities. The purpose of the present study was to evaluate their exact topography, clinical features, morphologic aspects and management. A retrospective review on all patients with venous and arteriovenous malformations of the tongue who presented between 1998 and 2010 was performed. Medical records were analysed with respect to age and sex distribution, exact localization, symptoms and clinical presentation, management and treatment outcome. Forty-four patients with tongue malformations were analysed. The malformations affected all areas of the tongue as well as the base of the tongue without predilection areas. Nd:YAG laser and CO2 laser therapy provided good results primarily in localized malformations, while in advanced malformations the management was multi-modal since a complete surgical excision was often impossible. The hypothesis that vascular malformations of the tongue occur more frequently along the course of the feeding vessels cannot be confirmed. The therapeutic approach is determined by the exact topography, haemodynamic properties, morphologic aspects and related clinical symptoms as well as patient-specific features. PMID:24558029

  9. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    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

  10. Contribution of Rare Copy Number Variants to Isolated Human Malformations

    PubMed Central

    Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

    2012-01-01

    Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

  11. Retraining the injured spinal cord

    NASA Technical Reports Server (NTRS)

    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

    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.

  12. The Triangle Splitting Method

    E-print Network

    2015-01-08

    A multiobjective mixed integer programming problem (MOMIP) can be stated .... 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 ...

  13. Umbilical cord blood transplantation.

    PubMed

    Koo, Hong Hoe; Ahn, Hyo Seop

    2012-07-01

    Since the first umbilical cord blood transplantation (CBT) in 1998, cord blood (CB) has now become one of the most commonly used sources of hematopoietic stem cells for transplantation. CBT has advantages of easy procurement, no risk to donor, low risk of transmitting infections, immediate availability and immune tolerance allowing successful transplantation despite human leukocyte antigen disparity. Several studies have shown that the number of cells transplanted is the most important factor for engraftment in CBT, and it limits the wide use of CB in adult patients. New strategies for facilitating engraftment and reducing transplantation-related mortality are ongoing in the field of CBT and include the use of a reduced-intensity conditioning regimen, double-unit CBT, ex vivo expansion of CB, and co-transplantation of CB and mesenchymal stem cells. Recently, the results of two international studies with large sample sizes showed that CB is an acceptable alternative source of hematopoietic stem cells for adult recipients who lack human leukocyte antigen-matched adult donors. Along with the intensive researches, development in banking process of CB will amplify the use of CB and offer the chance for cure in more patients. PMID:22844315

  14. Umbilical cord blood transplantation

    PubMed Central

    Koo, Hong Hoe

    2012-01-01

    Since the first umbilical cord blood transplantation (CBT) in 1998, cord blood (CB) has now become one of the most commonly used sources of hematopoietic stem cells for transplantation. CBT has advantages of easy procurement, no risk to donor, low risk of transmitting infections, immediate availability and immune tolerance allowing successful transplantation despite human leukocyte antigen disparity. Several studies have shown that the number of cells transplanted is the most important factor for engraftment in CBT, and it limits the wide use of CB in adult patients. New strategies for facilitating engraftment and reducing transplantation-related mortality are ongoing in the field of CBT and include the use of a reduced-intensity conditioning regimen, double-unit CBT, ex vivo expansion of CB, and co-transplantation of CB and mesenchymal stem cells. Recently, the results of two international studies with large sample sizes showed that CB is an acceptable alternative source of hematopoietic stem cells for adult recipients who lack human leukocyte antigen-matched adult donors. Along with the intensive researches, development in banking process of CB will amplify the use of CB and offer the chance for cure in more patients. PMID:22844315

  15. The relationship between hydrocephalus and Chiari type II malformation in the experimental rat fetuses with Arnold-Chiari malformation.

    PubMed

    Hung, C F

    1986-04-01

    Spina bifida, Chiari type II malformation, cerebral aqueduct stenosis and hydrocephalus are the most frequent association anomalies in the congenital malformation of the central nervous system (Warkany et al., 1958). They are potentially treatable and of clinical importance. But the relationship between hydrocephalus and Chiari type II malformation is still a controversial subject. A single oral dose of 240 mg/kg of ethylenethiourea (ETU) was given to Sprague Dawley (SD) rats on the 11th day of gestation. Fetuses were removed in the 20th day of gestation by cesarean sections; high incidence of spinal dysraphism associated with hindbrain crowding was found in these fetuses. They are similar to Arnold-Chiari malformation in humans. We used these experimental models to analyze the relationship between hydrocephalus and Chiari type II malformation. From the present investigation, no hydrocephalus or cerebral aqueduct stenosis was found in the experimental rat fetuses with the Arnold-Chiari malformation. So we do not consider the hydrodynamic theory that Chiari type II malformation was induced by increasing intracranial pressure in hydrocephalus. Hydrocephalus in the Arnold-Chiari malformation may not be the primary disorder but seems to be caused by plugging the foramen magnum in Chiari type II malformation. So the cerebrospinal fluid in the spinal subarachnoid space can not move upward to the cranial subarachnoid space for absorption to venous return. Cerebral aqueduct stenosis may be secondarily compressed by hydrocephalus and not be the primary development anomaly or acquired occlusion due to gliosis. This is in accord with the theory proposed by Russell and Donald (1935).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3749365

  16. Acardiac twin presenting as fetus amorphous with an attenuated umbilical cord.

    PubMed

    Hanley, L Corey; Boyd, Theonia K; Hecht, Jonathan L

    2007-01-01

    Acardiac anomaly sequence is a rare malformation cluster occurring in the setting of monozygotic monochorionic twin pregnancies. In addition to an absent heart (acardia), variable degrees of somatic developmental disruption are present. We describe an extreme example of what we believe to be acardiac twinning, with almost complete absence of gross tissue organization but recognizable microscopic evidence of body-axis establishment and organ formation. The case is also notable for the absence of a grossly identifiable umbilical cord, with attachment to the placental vasculature by 2 vessels invested by amnion but without Wharton's jelly. We discuss the controversy regarding the requirement of an umbilical cord in the definition of acardiac twin and distinguish this case from placental teratoma. PMID:18001161

  17. Pulmonary vascular malformation complicating cryptococcal pneumonia in an immunocompetent patient

    PubMed Central

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

    2014-01-01

    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

  18. 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

  19. Allelic and locus heterogeneity in inherited venous malformations

    Microsoft Academic Search

    Jennifer T. Calvert; J. Riney; Christopher D. Kontos; Eugene H. Cha; V ictor G. Prieto; Christopher R. Shea; Jonathan N. Berg; Norman C. Nevin; Sheila A. Simpson; Krystyna A. Pasyk; Marcy C. Speer; Kevin G. Peters; Douglas A. Marchuk

    1999-01-01

    Venous malformations are low-flow vascular lesions consisting of disorganized thin-walled vascular channels. These can occur sporadically but also as an autosomal dominant condition termed venous malformations, cutaneous and mucosal (VMCM; OMIM 600195). In two large unrelated kindreds map- ping to chromosome 9, the identical R849W mis- sense mutation was identified in the first kinase domain of Tie2, an endothelial cell-specific

  20. Occupational exposure to glycol ethers and human congenital malformations

    Microsoft Academic Search

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

    2003-01-01

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

  1. Cerebral Arteriovenous Malformation Associated with Moyamoya Disease

    PubMed Central

    Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han

    2014-01-01

    The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal carotid artery feeders by new external carotid artery feeders from the EDAS site. The AVM was eventually treated with gamma knife radiosurgery considering an increasing steal effect. The second case was a de novo AVM case. The patient was initially diagnosed with MMD, and acquired an AVM eight years later that was slowly fed by the reconstituted anterior cerebral artery. Because the patient remained asymptomatic, the AVM is currently being closely followed for more than 2 years without further surgical intervention. Possible differences in the pathogenesis and the radiologic presentation of these AVMs are discussed with a literature review. No solid consensus exists on the optimal treatment of MMD-associated AVMs. Gamma knife radiosurgery appears to be an effective treatment option for an incidental AVM. However, a de novo AVM may be managed expectantly considering the possible risks of damaging established collaterals, low flow characteristics, and probably low risks of rupture. PMID:25371789

  2. Surgical treatment of cerebral cavernous malformations.

    PubMed

    Davies, J M; Kim, H; Lawton, M T

    2015-09-01

    Cerebral cavernous malformations (CMs) are clusters of abnormally-formed, thin-walled blood vessels that tend to hemorrhage, resulting in focal neurological deficits, seizures, and even death, depending on the location of the lesion and extent of bleeding. Management of cerebral CMs can be reduced to the decision to observe or to surgically resect. The objective of the paper was to review options for surgical management of cerebral CMs. A university-based CM practice was examined for: 1) anatomical distribution of operatively managed CMs; and 2) surgical approaches to eloquent CMs. Although cerebral CMs can occur throughout the brain and can lead to significant neurological morbidity, even in highly eloquent locations, such as the brainstem, thalamus, and basal ganglia, experience demonstrates that the majority of CMs can be safely resected and that patients tend to experience long-term improvement in neurological function. The keys to good patient outcomes lie in appropriate patient selection and in thoughtful choice of a surgical approach that minimizes transgression of normal structures. PMID:25881653

  3. Depression and Spinal Cord Injury

    MedlinePLUS

    ... colleagues, with an educational grant from Pfizer Inc. University of Washington-operated SCI Clinics: Harborview Medical Center ... Spinal Cord Injury Clinic nurses: 206-744-5862 University of Washington Medical Center Rehabilitation Medicine Clinic 1959 ...

  4. Erythropoietin in spinal cord injury

    Microsoft Academic Search

    Georgios K. Matis; Theodossios A. Birbilis

    2009-01-01

    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

  5. Stabilized Zeeman split laser

    NASA Technical Reports Server (NTRS)

    1981-01-01

    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.

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

    SciTech Connect

    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

    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.

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

    PubMed

    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

    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

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

    PubMed

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

    2013-06-01

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

  9. Allogeneic umbilical cord blood transplantation.

    PubMed

    Wagner, J E

    1997-01-01

    Interest in umbilical cord blood as an alternate source of hematopoietic stem cells is growing rapidly. Umbilical cord blood offers the clinician a source of hematopoietic stem cells that is rarely contaminated by latent viruses and is readily available. Moreover, the collection of umbilical cord blood poses no risk to the donor; there is no need for general anesthesia or blood replacement, and the procedure causes no discomfort. Whether cord blood lymphocytes are as likely to cause GVHD as lymphocytes from older individuals is unknown. Current clinical experience would suggest that the incidence may be low. Few of the patients transplanted with umbilical cord blood thus far have developed clinically significant GVHD, including recipients of HLA-disparate grafts. These results and associated laboratory findings pose intriguing possibilities for the future of umbilical cord blood stem cells in the setting of unrelated transplantation. With the marked incidence of grade 2-4 acute GVHD that is currently observed after unrelated bone marrow transplantation, a reduction in incidence or severity would be a major advancement in this field. In the setting of autologous trans-plantation, there are other intriguing possibilities; for example, cord blood may be an optimal source of pluripotential stem cells for gene therapy. The large-scale collection and storage of cord blood stem cells has become a reality. Pilot programs for the banking of unrelated umbilical cord blood have already begun in the United States and Europe. Not only is there the potential for reducing the time from search initiation to the time of donor stem cell acquisition but also there is the potential for reducing the risks associated with unrelated bone marrow transplantation. There is also the hope of remedying the shortage of donors from ethnic and racial backgrounds that are currently underrepresented in most unrelated donor programs. Even with the creation of such banks, it should not be forgotten that the collection of umbilical cord bloods should at least be considered when a child with leukemia, lymphoma, neuroblastoma, marrow failure syndrome, immunodeficiency state, or inborn error of metabolism has a mother who is pregnant. The clinical results to date in small recipients would suggest that it is at least as good as bone marrow; but additional patients and more time will be needed to finalize this conclusion. PMID:9071504

  10. Plasmonic solar water splitting.

    SciTech Connect

    Warren, S. C.; Thimsen, E. (Materials Science Division); (Ecole Polytechnique Federale de Lausanne); (Northwestern Univ.)

    2012-01-01

    The study of the optoelectronic effects of plasmonic metal nanoparticles on semiconductors has led to compelling evidence for plasmon-enhanced water splitting. We review the relevant physics, device geometries, and research progress in this area. We focus on localized surface plasmons and their effects on semiconductors, particularly in terms of energy transfer, scattering, and hot electron transfer.

  11. Vital Stats SPLIT RESISTIVE

    E-print Network

    Weston, Ken

    Vital Stats STRENGTH 25 TESLA TYPE SPLIT RESISTIVE ONLINE SINCE JUNE 2011 32 MM & 45° BY 11.4° BORE-before-possible optics experiments. What's so special about optics experimentation? Scientists learn more about-of- life enhancements. In addition to optics experiments, this magnet is also useful for Fourier transform

  12. The Amazing Splitting Plant

    NSDL National Science Digital Library

    This problem introduces repeated doubling in the context of a plant with branches that split into 2 more branches every week. The problem lays the foundation for understanding exponential growth and lends itself to a variety of representations. The Teachers' Notes page offers rationale, suggestions for implementation, discussion questions, and ideas for extension and support.

  13. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  14. Immune Response in Human Cerebral Cavernous Malformations

    PubMed Central

    Shi, Changbin; Shenkar, Robert; Du, Hongyan; Duckworth, Edward; Raja, Harish; Batjer, H. Hunt; Awad, Issam A.

    2009-01-01

    Background and Purpose Preliminary observations suggesting the presence of B and plasma cells and oligoclonality of immunoglobulin (Ig) G in cerebral cavernous malformations (CCMs) have motivated a systematic study correlating the infiltration of the immune cells with clinical activity and antigen-triggered immune response in surgically excised lesions. Methods Infiltration of plasma, B, T and HLA-DR expressing cells and macrophages within 23 excised CCMs was related to clinical activity. Relative amounts of Ig isotypes were determined. IgG clonality of mRNA from CCMs was assessed by spectratyping, cloning and sequencing. Results Infiltration of the immune cells ranged widely within CCM lesions and cells were generally co-expressed with each other. Immune cell infiltration did not associate with recent bleeding and lesion growth. Significantly more B lymphocytes in CCM lesions were associated with venous anomaly. More T cells were present in solitary lesions. More T cells and less macrophages were present in CCMs from younger subjects. IgG isotype was present in all CCM lesions. Most lesions also expressed IgM and IgA, with IgM predominance over IgA correlating with recent CCM growth. Oligoclonality was shown in IgG mRNA from CCMs, but not from peripheral blood lymphocytes, with only eight CDR3 sequences observed among 134 clones from two CCM lesions. Conclusions An antigen-directed oligoclonal IgG immune response is present within CCM lesions regardless of recent clinical activity. Apparent differences in immune response in younger patients and in lesions with recent growth will need confirmation in other series. The pathogenicity of oligoclonal immune response will require systematic hypothesis testing in recently available CCM murine models. PMID:19286587

  15. Modular active power filtering approaches: Power splitting verses frequency splitting

    Microsoft Academic Search

    R. El Shatshat; M. Kazerani; M. M. A. Salama

    1999-01-01

    Power-line active filtering is performed by injecting into the power line a current equal in magnitude, but opposite in sign, to the line current distortion. In high-power applications, the filtering job is conventionally split among several identical active filter modules (power splitting). An alternative approach is to split the filtering job among several active filter modules, each dedicated to take

  16. Gross congenital malformation at birth in a government hospital.

    PubMed

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

    2014-01-01

    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

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

    USGS Publications Warehouse

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

    2000-01-01

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

  18. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

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

    2013-02-01

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

  19. Nuchal cords are necklaces, not nooses.

    PubMed

    Cohain, Judy Slome

    2010-01-01

    Research based on 182,492 births, wielding statistical power to uncover even mild negative associations, showed that both single and multiple nuchal cords at the time of delivery are not associated with adverse perinatal outcomes. Nuchal cords are associated with higher birth weights and lower cesarean section rates than births without nuchal cords. Color Doppler ultrasound, intended specifically to diagnose nuchal cords hours before delivery, has diagnosed the presence of 35-80% of the nuchal cords found on delivery, and has a false positive rate of 19%. The rate of nuchal cords increases with increasing gestational weeks. Present technology cannot reliably predict the presence of a nuchal cord, tell whether a nuchal cord is tight, or determine anything regarding the likelihood of hypoxia, IUGR or stillbirth. Intervention for the supposed presence of single or multiple loops of nuchal cord or a true knot, suspected by ultrasound prenatally, is unjustified because diagnosis by ultrasound is unreliable and intervention involves greater risk to the baby than the nuchal cord. Since nuchal cords occur at rates of 30-34% at 40 weeks and are not associated with adverse perinatal outcomes, practitioners and women should consider their presence reassuring and normal. Given the common occurrence of nuchal cords and its very high association with a favorable outcome, scanning for nuchal cords appears to have no efficacy. Efforts to define and diagnose new antepartum "problems" continue to outstrip our ability to improve outcomes by diagnosing and "treating" newly defined problems. PMID:20397541

  20. Tablet Splitting: A Risky Practice

    MedlinePLUS

    ... Updates by E-mail Consumer Updates RSS Feed Tablet Splitting: A Risky Practice Search the Consumer Updates ... Pharmacists Association. This includes skipping doses and splitting tablets in an effort to save money. Regarding the ...

  1. Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child.

    PubMed

    Flett, Peter John; Baulderstone, David; Russo, Remo; Davies, Roger Philip

    2012-01-01

    A case of spinal arterio-venous malformation (AVM) initially diagnosed as unilateral cerebral palsy (CP) is reported. The presentation was of a long-standing spastic monoparesis of the left leg, with initial response to Botulinum toxin injections to the calf and tibialis posterior muscles. This was followed by progressive deterioration occurring over a 3-month period before further investigation and definitive diagnosis at 7 years. Imaging demonstrated a large extra-medullary spinal AVM compressing the mid-thoracic cord. This was successfully managed by embolisation with a non-adhesive polymer: ethylene-vinyl alcohol copolymer injected into the dominant feeding vessel. This case highlights the need to consider alternative diagnoses when a child with a diagnosis of CP presents with atypical clinical features such as monoparesis and has worsening or altered clinical signs. Moreover, a normal magnetic resonance imaging brain scan and the absence of ipsilateral upper limb neurological signs or functional impairment should raise suspicion even in the context of static lower limb signs. A literature review was performed on the management of spinal AVM in children and this will be is discussed. PMID:20546106

  2. Pain Management Following Spinal Cord Injury

    MedlinePLUS

    ... Center Spinal Cord Injury InfoSheet 10 Level - Consumer Pain Management following Spinal Cord Injury coming from somewhere other ... pain is described as burning, cramping and constant. PAIN MANAGEMENT Pain management usually includes treatment with medications, modified ...

  3. Spinal Cord Injury Model System Information Network

    MedlinePLUS

    ... Contact the UAB-SCIMS UAB Spinal Cord Injury Model System Newly Injured Health Daily Living Consumer Groups ... University of Alabama at Birmingham Spinal Cord Injury Model System (UAB-SCIMS) maintains this Information Network as ...

  4. Minimal split completions Pinar Heggernes

    E-print Network

    Fomin, Fedor V.

    of the input graph. Our purpose is to add an inclusion minimal set of edges to obtain a minimal split completion, which means that no proper sub- set of the added edges is sufficient to create a split completionMinimal split completions Pinar Heggernes Federico Mancini Abstract We study the problem of adding

  5. Minimal split completions Pinar Heggernes

    E-print Network

    Heggernes, Pinar

    an inclusion minimal set of edges to a given arbitrary graph so that the resulting graph is a split graph Introduction Split graphs are the class of graphs whose vertices can be partitioned into an independent setMinimal split completions Pinar Heggernes Federico Mancini Abstract We study the problem of adding

  6. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams.

  7. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  8. Cord Blood Stem Cells for Hematopoietic Transplantation

    Microsoft Academic Search

    Anfisa Stanevsky; Avichai Shimoni; Ronit Yerushalmi; Arnon Nagler

    2011-01-01

    Cord blood (CB) is an important alternative source of hematopoietic stem cells (HSCs) for transplantation today. The principal\\u000a drawbacks of cord blood transplantation are the limited number of hematopoietic stem cells and a long time to engraftment.\\u000a Several promising approaches for engraftment enhancement are under intensive investigation. Such are transplantation with\\u000a two cord blood units, co transplantation of cord blood

  9. 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 ...

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

    PubMed Central

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

    2015-01-01

    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

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

    SciTech Connect

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke; Sumi, Seiya; Ogata, Ichiro; Takahashi, Mutsumasa [Department of Radiology, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860 (Japan); Kawakami, Shigeo; Ueda, Shohichi [Department of Urology, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860 (Japan)

    1999-11-15

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

  12. Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of

    E-print Network

    Schaffer, Chris B.

    Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement the arteriovenous (AV) interface are critical for tissue function. AV malformation (AVM) is a pathological, MA, and approved November 11, 2014 (received for review August 13, 2014) Arteriovenous (AV

  13. Embolization in high-flow arteriovenous malformations of the face.

    PubMed

    Komiyama, M; Khosla, V K; Yamamoto, Y; Tazaki, H; Toyota, N

    1992-06-01

    Five patients with arteriovenous malformations of the face (4 males and 1 woman; age range, 11-38 years) were treated by selective embolization through the feeding arteries with polyvinyl alcohol particles. Immediate gross angiographical obliteration was obtained in 4 patients, with pronounced reduction of the arteriovenous shunt in the fifth. Clinical symptoms including bleeding, swelling, pulsations, bruit, and disfigurement improved in all the patients followed up for a period of 6 to 21 months. Polyvinyl alcohol particle embolization, without surgical resection, though palliative could be useful in select patients. The classification and diagnosis of congenital vascular malformations is briefly reviewed and treatment discussed. PMID:1622040

  14. Incorporating Amphibian Malformation into Inquiry-Based Learning

    NSDL National Science Digital Library

    Brooke L. Talley

    2007-01-01

    Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.

  15. Pulmonary arteriovenous malformations presenting as refractory heart failure

    PubMed Central

    Chen, Kai-Hong; Huang, Guo-Yong; Song, Wei

    2014-01-01

    A 22-year-old young man with a history of idiopathic dilated cardiomyopathy (IDC) was admitted to our hospital due to difficult-to-control heart failure. A thoracic X-ray showed multiple nodules at the both pulmonary hilus and upper lobe of the right lung. Computed tomography (CT) angiography of the thorax confirmed arteriovenous malformation (AVM). However, effective treatment was impossible due to the poor physical condition; he died a few days later. Here we reported on the case of pulmonary arteriovenous malformations (PAVMs) being misdiagnosed as refractory heart failure. PMID:25276390

  16. Regression of a Large Congenital Hepatic Arteriovenous Malformation

    PubMed Central

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

    2015-01-01

    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

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

    PubMed Central

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

    2013-01-01

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

  18. Arteriovenous malformation within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma

    PubMed Central

    Lai, Grace; Muller, Karra A.; Carter, Bob S.; Chen, Clark C.

    2015-01-01

    Background: The co-occurrence of intracranial arteriovenous malformations (AVMs) and cerebral neoplasms is exceedingly rare but may harbor implications pertaining to the molecular medicine of brain cancer pathogenesis. Case Description: Here, we present a case of de novo AVM within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma (WHO Grade III) and review the potential contribution of this mutation to aberrant angiogenesis as an interesting case study in molecular medicine. Conclusion: The co-occurrence of an IDH1 mutated neoplasm and AVM supports the hypothesis that IDH1 mutations may contribute to aberrant angiogenesis and vascular malformation.

  19. A new method for assessment of craniofacial malformations.

    PubMed

    Pelo, Sandro; Tassiello, Stefano; Boniello, Roberto; Gasparini, Giulio; Longobardi, Gianluigi

    2006-11-01

    Many assessments of craniofacial malformations are generally undertaken to assist in surgical intervention including physical examination, cephalometric radiographs in anteroposterior and lateral views, stereolithographic models, and anthropometric measurements integrated with three-dimensional computed tomography (3-D CT) reconstructions to quantify skeletal deformities. In the present report, the use of 3-D Malformation Analysis, a three-dimensional methodology for planning craniofacial operative procedures, is presented. In addition to cephalometric and anthropometric databases, the measurements from 3-D surface reconstructions from CT were used intraoperatively to establish the correct position of skeletal segments. PMID:17119401

  20. Evaluation of spinal cord injury animal models

    PubMed Central

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

    2014-01-01

    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

  1. Stem Cells for Spinal Cord Repair

    Microsoft Academic Search

    Fanie Barnabe; Jonas Frisen

    2008-01-01

    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

  2. Psychological Aspects of Spinal Cord Injury

    ERIC Educational Resources Information Center

    Cook, Daniel W.

    1976-01-01

    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)

  3. Intrauterine fetal death after multiple umbilical cord torsion—complication of a twin pregnancy following assisted reproduction

    Microsoft Academic Search

    M. C. Fleisch; Thomas Hoehn

    2008-01-01

    Background  Patients requiring assisted reproductive techniques may have a higher rate of congenital malformations. Some rare complications\\u000a of pregnancy might be related to such abnormalities. Torsions of the umbilical cord resulting in fetal death have previously\\u000a been described exclusively in pregnancies following spontaneous conception.\\u000a \\u000a \\u000a \\u000a Case  The case of 37 year old gravida I, para O woman with a twin pregnancy after intracytoplasmatic sperm

  4. Incidence of anencephaly and other major malformations when oestriol excretion is very low

    Microsoft Academic Search

    L. DEAN; D. A. ABELL; N. A. BEISCHER

    1977-01-01

    A study of 533 women with very low urinary oestriol excretion during the third trimester of pregnancy showed an incidence of major fetal malformations among their infants of 7-1% and a perinatal mortality rate of 14-6%. Thirteen of the malformations were cases of anencephaly, and 26 of the 78 perinatal deaths were due to or associated with major fetal malformations.

  5. Size Estimation and Magnification Error in Radiographic Imaging: Implications for Classification of Arteriovenous Malformations

    E-print Network

    Cunningham, Ian

    of Arteriovenous Malformations Kost Elisevich, Ian A. Cunningham, and Leo Assis PURPOSE: To assess magnification error in digital subtraction angiography as it pertains to arteriovenous malformation (AVM) size schemes for AVMs have been hampered by this technical error. Index terms: Arteriovenous malformations

  6. Visualization and Analysis of Cerebral Arteriovenous Malformation combining 3D and 4D MR Image Sequences

    E-print Network

    Lübeck, Universität zu

    1 Visualization and Analysis of Cerebral Arteriovenous Malformation combining 3D and 4D MR Image-Eppendorf Abstract. In this paper methods for visualization and analysis of cerebral arteriovenous malformations (AVM angiography; cerebral arteriovenous malformation; maximum intensity projection; mutual information; image

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  8. Split median raphe: case series and brief literature review.

    PubMed

    Valerio, Enrico; Cutrone, Mario

    2014-01-01

    We describe three cases of split median raphe of the penis (SMR) from our hospital newborn records from 2004 to 2013. One case was associated with median raphe cyst, one with skin hypochromia, and one with a scar-like aspect of the region of interest. SMR is thought to be the result of defective fusion of ectodermal tissue in the urethra and scrotum area or of defective growth of the perineal mesoderm around the urethra during gestation. Although SMR associated with other major penile congenital defects (epispadias, hypospadias, penile torsion, bifid scrotum, chordee) is common, isolated SMR is probably an underdiagnosed (although not rare) malformative condition. Recognizing SMR in a newborn may be of educational value to neonatologists because it leads to the search for and exclusion of the above-mentioned pathologic conditions. PMID:25236772

  9. Melatonin lowers edema after spinal cord injury

    PubMed Central

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

    2014-01-01

    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

  10. True knot of the umbilical cord.

    PubMed

    Chasnoff, I J; Fletcher, M A

    1977-02-15

    Fifty umbilical cords were prepared and examined and their venous perfusion pressures measured with and without a true knot in the cord. Contrary to information in the literature, a loose umbilical cord knot did not affect the venous perfusion pressure. With a tightened knot, the smaller the umbilical cord diameter, the greater was the pressure required to perfuse past the knot. The umbilical vessels, protected by the myxomatous structure of the Wharton's jelly, were rarely completely occluded. These findings correlate clinically with the relatively high incidence yet low fetal mortality rate actually due to a true knot in the umbilical cord. PMID:835642

  11. Cecal vascular malformation mimicking appendicitis in a child

    Microsoft Academic Search

    Sherif Emil; Siamak Milanchi; Adrian Goldstein

    2005-01-01

    A 5-year-old girl presented with abdominal pain suggestive of appendicitis. Intraoperatively, a solid cecal mass was identified\\u000a along with mesenteric adenopathy. A right hemicolectomy was performed. Pathologic examination revealed a vascular malformation\\u000a with evidence of recent hemorrhage.

  12. Sequelae and support after termination of pregnancy for fetal malformation

    Microsoft Academic Search

    J Lloyd; K M Laurence

    1985-01-01

    A retrospective study examined the reactions to the termination of pregnancy for fetal malformation and the follow up services that were available. Women resident in Mid Glamorgan who had had a termination between 1977 and 1981 because of positive findings after midtrimester prenatal diagnostic tests for neural tube defect or chromosome abnormalities were interviewed at home using a semistructured interview

  13. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM. PMID:22304367

  14. Macrocephaly-capillary malformation syndrome: three new cases.

    PubMed

    Panigrahi, Inusha; Bhushan, Mani; Yadav, Mukesh; Khandelwal, Niranjan; Singhi, Pratibha

    2012-02-15

    Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. PMID:22029941

  15. Surgical Management of Chiari Malformation: Analysis of 128 Cases

    Microsoft Academic Search

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

    2007-01-01

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

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

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

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

  17. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

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

    2013-01-01

    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

  18. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

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

    2014-04-01

    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:23543731

  19. Proximity to Pollution Sources and Risk of Amphibian Limb Malformation

    PubMed Central

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

    2005-01-01

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

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

    Microsoft Academic Search

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

    1986-01-01

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

  1. A proposed angiographic classification of intracranial arteriovenous fistulae and malformations

    Microsoft Academic Search

    E. Houdart; Y. P. Gobin; A. Casasco; A. Aymard; D. Herbreteau; J. J. Merland

    1993-01-01

    We propose an angioarchitectural classification of intracranial vascular lesions as arteriovenous, arteriolovenous and arteriolovenulous fistulae. In order to validate this classification, 99 intracranial arteriovenous lesions were reviewed in 98 patients. Arteriolovenulous fistulae included 39 isolated brain arteriovenous malformations (AVMs) and 1 AVM associated with a giant arteriovenous fistula (AVF). Arteriovenous fistulae included 8 giant AVFs of the brain, 6 vein

  2. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    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

    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.

  3. Stereotactic radiosurgery for arteriovenous malformations of the brain

    Microsoft Academic Search

    L. Dade Lunsford; Douglas Kondziolka; John C. Flickinger; David J. Bissonette; Charles A. Jungreis; Ann H. Maitz; Joseph A. Horton; Robert J. Coffey

    1991-01-01

    Stereotactic radiosurgery successfully obliterates carefully selected arteriovenous malformations (AVM's) of the brain. In an initial 3-year experience using the 201-source cobalt-60 gamma knife at the University of Pittsburgh, 227 patients with AVM's were treated. Symptoms at presentation included prior hemorrhage in 143 patients (63%), headache in 104 (46%), and seizures in 70 (31%). Neurological deficits were present in 102 patients

  4. Brain Arteriovenous Malformations: Assessment with Dynamic MR Digital Subtraction Angiography

    Microsoft Academic Search

    Paul D. Griffiths; Nigel Hoggard; Daniel J. Warren; Iain D. Wilkinson; Bob Anderson; Charles A. Romanowski

    BACKGROUND AND PURPOSE: Conventional catheter angiography (CCA) is the current reference standard for the diagnosis, assessment, and management of pial brain arteriovenous malformations (AVMs). The purpose of this study was to develop an MR angiographic tech- nique that produces dynamic images comparable to those provided by CCA and to apply the technique to the investigation of pial brain AVMs. METHODS:

  5. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.

    PubMed

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-04-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy-Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case-series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations. PMID:19191827

  6. The North American Reporting Center for Amphibian Malformations

    NSDL National Science Digital Library

    Fowle, Suzanne C.

    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.

  7. 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...

  8. Split-pseudopaths in split-prime V. Giakoumakis2

    E-print Network

    Swan, Dubois

    - = ) the set X (resp. Y ) is a non-trivial module of G. Let H be a graph without split containing G as induced or to some but not all of the vertices of A. A split in G is a bi-partition (X, Y ) of its vertex set V (G (respectively m2) in G1 (resp. G2) is the set X+ (resp. Y + ). The split-composition of two dis- joint graphs G1

  9. The SPLIT Research Agenda 2013

    PubMed Central

    Alonso, Estella M.; Ng, Vicky L.; Anand, Ravinder; Anderson, Christopher D.; Ekong, Udeme D.; Fredericks, Emily M.; Furuya, Katryn N.; Gupta, Nitika A.; Lerret, Stacee; Sundaram, Shikha; Tiao, Greg

    2014-01-01

    This review focuses on active clinical research in pediatric liver transplantation with special emphasis on areas that could benefit from studies utilizing the SPLIT infrastructure and data repository. Ideas were solicited by members of the SPLIT Research Committee and sections were drafted by members of the committee with expertise in those given areas. This review is intended to highlight priorities for clinical research that could successfully be conducted through the SPLIT collaborative and would have significant impact in pediatric liver transplantation. PMID:23718800

  10. [Successful management of an acquired uterine arteriovenous malformation by selective ligation of the internal iliac artery].

    PubMed

    Raherinantenaina, F; Rajaonanahary, T M A; Randriamandrato, T A V; Rakoto Ratsimba, H N

    2015-05-01

    Uterine arteriovenous malformations can be congenital or acquired. When acquired, they result from abnormal arteriovenous communication between one or more uterine arteries and a myometrial and/or endometrial venous plexus, without the interposition of a vascular nidus. Arteriovenous malformations are composed of a tortuous net of fragile low-resistant arteriovenous shunts. Uterine arteriovenous malformations create a rare and potentially life-threatening condition. The method of treatment is determined by symptoms, desire for future fertility, extent, and location of the malformation. The first treatment option for uterine arteriovenous malformation is hysterectomy, and the second option is uterine artery embolization. Selective ligation of the vessels supplying the malformation is an effective treatment option when conservative methods have failed. The present report describes a patient whose uterine arteriovenous malformation was successfully managed by selective ligation of the internal iliac artery. PMID:25778842

  11. Bronchogenic cyst of the conus medullaris with spinal cord tethering: a case report and review of the literature

    PubMed Central

    Zou, Ming-Xiang; Hu, Jia-Rui; Kang, Yi-Jun; Li, Jing; Lv, Guo-Hua; She, Xiao-Ling

    2015-01-01

    Bronchogenic cysts (BCs) are congenital malformations that originate from remnants of the primitive foregut. Intraspinal BCs, especially those of the conus medullaris are rare with only one case reported until now. To date, a bronchogenic cyst with spinal cord tethering has not been previously reported. We reviewed the clinical course of a 44-year-old woman, who presented with low back pain and leg weaknesss as well as sphincter disturbance. Magnetic resonance imaging showed an intradural oval mass located at the conus medullaris. A tethered cord was also observed, as well as a dermal sinus tract. The mass was totally removed after an L3-L4 laminectomy without detethering during operation. Pathologic examination confirmed the diagnosis of bronchogenic cyst. By six months after treatment, the patient had experienced nearly complete recovery. The review of literature indicated that detethering was performed in most reported cases of neurenteric cysts with spinal cord tethering, and one of six patients was diagnosed with a postoperative recurrence. The co-existence of bronchogenic cyst and a tethered spinal cord would imply associated developmental errors in embryogenesis. It is worth noting that whether detethering is necessary after the cyst removal.

  12. [A universal stereotactic device for spinal cord surgery].

    PubMed

    Novák, Z; Kosík, E

    2001-07-01

    Technical description of a universal stereotactic system for spinal cord operations is presented after a short overview of the history of spinal cord stereotaxis. When combined with the topometric atlas of the cord, new era of spinal cord stereotaxis can be opened, which is going to expand the amount of knowledge about the physiology of the spinal cord. PMID:11505685

  13. Cord blood transplantation and cord blood bank in Japan

    Microsoft Academic Search

    S Kato; H Nishihira; H Hara; K Kato; T Takahashi; N Sato; Y Kodera; H Sato; M Takanashi

    2000-01-01

    The first cord blood transplantation (CBT) was performed in a 5-year-old boy with acute mylogenous leukemia from his HLA-identical sibling donor in 1994. Since then there have been 17 related and 131 unrelated CBTs in Japan. Overall survival and disease-free survival (DFS) were over 70% in sibling donor CBT. DFS of unrelated CBT in leukemia and other hematological malignancies was

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

    PubMed Central

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

    1999-01-01

    Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring. PMID:10330351

  15. Sex Cord-Stromal Tumors

    Microsoft Academic Search

    Jubilee Brown; David M. Gershenson

    \\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

  16. Tethered Cord Syndrome in Adults

    Microsoft Academic Search

    K. M. Akay; Y. Er?ahin; Y. Çak?r

    2000-01-01

    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

  17. Erythropoietin in Spinal Cord Injury

    Microsoft Academic Search

    Michael Brines; Anthony Cerami

    Spinal cord injury (SCI) is a devastating condition lacking a clearly effective pharmacological treatment. The cytokine erythropoietin\\u000a (EPO), which mediates cytoprotection in a variety of tissues through activation of multiple signaling pathways, is markedly\\u000a effective in preclinical models of ischemic, traumatic and inflammatory SCI. The recent development of non-erythropoietic\\u000a derivatives of EPO with outstanding preclinical characteristics encourages evaluation of tissue-protective

  18. Religious perspectives on umbilical cord blood banking.

    PubMed

    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

    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

  19. Pregnancy following spinal cord injury.

    PubMed Central

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

    1991-01-01

    Each year about 2,000 women of childbearing age in the United States have a spinal cord injury. Only a few mostly anecdotal reports describe pregnancy after such an injury. In a retrospective study of 16 women with a spinal cord injury, half of whom have a complete injury and about half quadriplegia, 25 pregnancies occurred, with 21 carried to full term. The women delayed pregnancy an average of 6.5 years after their injury, with an average age at first pregnancy of 26.8 years. Cesarean section was necessary in 4 patients because of inadequate progress of labor. In 5 deliveries an episiotomy and local anesthesia were required, 7 required epidural anesthesia, including all cesarean sections, and 10 did not require anesthesia. Several complications have been identified in the antepartum, intrapartum, and postpartum periods including autonomic hyperreflexia, premature labor, pressure sores, urinary tract infections, abnormal presentation, and failure to progress. Ultrasonography and amniocentesis were used selectively. Women with spinal cord injuries can have healthy children, although there are significant risks and these women have special needs. PMID:1866960

  20. Minimal split completions # Pinar Heggernes + Federico Mancini +

    E-print Network

    Fomin, Fedor V.

    split completion, which means that no proper sub­ set of the added edges is su#cient to create a splitMinimal split completions # Pinar Heggernes + Federico Mancini + Abstract We study the problem of adding edges to a given arbitrary graph so that the resulting graph is a split graph, called a split

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

    PubMed

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

    2014-05-01

    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

  2. Giant mesenteric lymphatic malformation presenting as small bowel volvulus

    PubMed Central

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

    2013-01-01

    Abdominal pain with bilious emesis is an ominous clinical presentation with many possible causes. We describe a previously healthy 4-year-old boy who presented with these symptoms and ultrasound findings of fluid throughout most of the abdominal cavity. Computed tomography imaging revealed a large cystic mass (21-by-13 cm) associated with a small bowel obstruction due to volvulus. A laparoscopic exploration was undertaken, revealing a large mass arising from the small intestinal mesentery and causing a segmental volvulus of the small bowel. Conversion to mini-laparotomy allowed reduction of the volvulus and segmental resection of the small bowel associated with a giant mesenteric lymphatic malformation. This case describes a rare cause of intestinal volvulus due to a mesenteric lymphatic malformation. PMID:24963906

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

    PubMed

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

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene. PMID:23551141

  4. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    PubMed Central

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

    2015-01-01

    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

  5. Pulmonary arteriovenous malformations. Case reports and literature review.

    PubMed

    Grahmann, P R; Bonnet, R; Swoboda, L; Nöldge, G; Hasse, J

    1994-05-01

    Pulmonary arteriovenous malformations (PAVM) represent an uncommon disease with only 500 reported cases. To emphasize the resectional surgical standard, 2 patients with PAVM and pulmonary right-to-left shunt are presented and the optional treatments discussed. One patient had suffered from a cerebrovascular accident. The other patient's diagnosis resulted from a coincidental finding in connection with an unrelated illness. Because of the risk of acutely developing complications, especially disabling or fatal cerebral ischemia, therapy is generally recommended even in asymptomatic patients. The 2 patients presented here were treated by resection. Surgical treatment with a very low risk and parenchyma-sparing technique remains the golden standard for large isolated malformations. In addition to the established and reliable operative therapy, since 1978 catheter embolization is becoming the method of choice with an increasing range of indications in those centers experienced with this technique. PMID:8172388

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

    PubMed

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

    2006-01-01

    Capillary malformations do not demand mostly any therapeutics. For aesthetic reasons, family or child can demand a treatment to ease even to remove the unsightly character of the lesion. In this context, the means employees must be simple and not engender aftereffects more unaesthetic than the lesion. The pulsed dye laser fulfils perfectly this conditions by improving the color of the lesion without touching the texture of the skin. However it's a treatment requiring many sessions over 2-3 years. Surgery keeps an interest for the treatment of capillary malformations resistant to laser (in particular on the limbs) or to treat soft tissues hyperplasia met in certain cervicofacial locations. The surgery uses the whole techniques of plastic surgery classified from the most simple to the most complicated: excision-suture in one time or iterative, excision and coverage by a skin graft, use of skin expansion techniques with local flaps. PMID:17005311

  7. Management of cerebral cavernous malformations: from diagnosis to treatment.

    PubMed

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

    2015-01-01

    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

  8. [Traumatic recurrence of idiopathic spinal cord herniation].

    PubMed

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

    2013-01-01

    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

  9. Umbilical cord prolapse and perinatal outcomes

    Microsoft Academic Search

    B. Kahana; E. Sheiner; A. Levy; S. Lazer; M. Mazor

    2004-01-01

    Objectives: To determine obstetric risk factors and perinatal outcomes of pregnancies complicated by umbilical cord prolapse. Methods: A population-based study was performed comparing all deliveries complicated by cord prolapse to deliveries without this complication. Statistical analysis was performed using multiple logistic regression models. Results: Prolapse of the umbilical cord complicated 0.4% (n=456) of all deliveries included in the study (n=121227).

  10. Testosterone Plus Finasteride Treatment After Spinal Cord Injury

    ClinicalTrials.gov

    2015-03-11

    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

  11. Seizure control after radiosurgery on cerebral arteriovenous malformations

    Microsoft Academic Search

    Yoshihisa Kida; Tatsuya Kobayashi; Takayuki Tanaka; Yoshimasa Mori; Tosinori Hasegawa; Toshiki Kondoh

    2000-01-01

    Among 462 cases of cerebral arteriovenous malformation (AVM) treated with gamma-radiosurgery, the initial presentations were haemorrhage in 68%, epilepsy in 12.8%, neurological deficits in 3.2%, minor symptoms in 7.6% and asymptomatic in 4.5% respectively. There were 79 cases (17.1%) who had had a convulsive seizure before radiosurgery and they were classified into two groups: 58 cases presented with seizure as

  12. Congenital cystoid adenomatoid malformation: Surgery in a young child.

    PubMed

    Hasnain Fatimi, Saulat; Asif Ali, Taimur; Majid, Zain; Deedar Ali, Ranish

    2015-07-01

    We present the case of a 3.5-year-old child who presented with recurrent chest infections and fever since birth. Antenatal ultrasonography had shown that she had a congenital cystic malformation of the left lower lobe of her lung. She was initially managed conservatively, and after a couple of years, underwent an uneventful left lower lobectomy via a posterolateral thoracotomy. She did very well after the procedure and her symptoms resolved significantly. PMID:25505008

  13. Present State of Microneurosurgery of Cerebral Arteriovenous Malformations

    Microsoft Academic Search

    Juha Hernesniemi; Rossana Romani; Martin Lehecka; Puchong Isarakul; Reza Dashti; Özgür Celik; Ondrej Navratil; Mika Niemelä; Aki Laakso

    Microneurosurgical excision is known to be the definitive treatment for brain arteriovenous malformation (AVMs). The most\\u000a important factors governing the operability of an AVM are location, size, age of the patient, and the neurosurgeon’s and team’s\\u000a experience. We present in this review the surgical experience of the senior author (JH) in microneurosurgical treatment of\\u000a brain AVMs. This consists of the

  14. Coexistence of an intracranial meningioma and an arteriovenous malformation

    PubMed Central

    Honeybul, Stephen

    2015-01-01

    The occurrence of a primary brain tumour in association with a cerebral arteriovenous malformation (AVM) is a recognized but rarely reported finding. A 56-year-old female presented following a single tonic clonic seizure. Radiological investigations revealed a left posterior frontal parafalcine meningioma and a left parietal AVM. Both were uneventfully resected. Whether there is a causal relationship is unproven, however, this case report might lend some support to this hypothesis given the relatively close proximity of the two lesions.

  15. Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities

    Microsoft Academic Search

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

    1993-01-01

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

  16. Embolotherapy of Large Pulmonary Arteriovenous Malformations: Long-Term Results

    Microsoft Academic Search

    Daniel W. Lee; Robert I. White; Thomas K. Egglin; Jeffrey S. Pollak; Pierre B. Fayad; Joel A. Wirth; Melvin M. Rosenblatt; Kevin W. Dickey; Catherine M. Burdge

    1997-01-01

    Background. The purpose of this study was to document the long-term results of transcatheter embolotherapy of large pulmonary arteriovenous malformations (PAVMs).Methods. From a data base of 221 consecutive patients with PAVMs treated by embolotherapy between 1978 and 1995, 45 patients with 52 PAVMs, supplied by feeding arteries 8 mm in diameter or larger, were selected for a retrospective investigation.Results. Of

  17. Coexistence of an intracranial meningioma and an arteriovenous malformation.

    PubMed

    Honeybul, Stephen

    2015-01-01

    The occurrence of a primary brain tumour in association with a cerebral arteriovenous malformation (AVM) is a recognized but rarely reported finding. A 56-year-old female presented following a single tonic clonic seizure. Radiological investigations revealed a left posterior frontal parafalcine meningioma and a left parietal AVM. Both were uneventfully resected. Whether there is a causal relationship is unproven, however, this case report might lend some support to this hypothesis given the relatively close proximity of the two lesions. PMID:26060239

  18. Pediatric stroke: the importance of cerebral arteriopathy and vascular malformations

    Microsoft Academic Search

    Lauren A. Beslow; Lori C. Jordan

    2010-01-01

    Purpose  Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 person-years. More than\\u000a half of children who have had a stroke have long-term neurological sequelae. The goal of this article is to review recent\\u000a literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations\\u000a as stroke

  19. Cerebral arteriovenous malformation: prenatal and postnatal central blood flow dynamics

    Microsoft Academic Search

    D. J. Patton; J-C Fouron

    1995-01-01

    Using the Doppler technique, this study compared the prenatal and postnatal flow patterns of an infant with cerebral arteriovenous (AV) malformation. Fetal right ventricular end-diastolic dimension was 1.7 cm with right ventricular ejection equaling 66% of the combined cardiac output. Diastolic flow was reversed in the fetal aortic isthmus but forward-moving in the descending aorta, resulting in a watershed phenomenon.

  20. Thoracoscopic anatomical resection of congenital lung malformations in adults

    PubMed Central

    Macias, Lidia; Ojanguren, Amaia; Dahdah, Julien

    2015-01-01

    Congenital lung malformations (CLM) are a heterogeneous group of disorders that may require surgical resection to prevent complications. Thoracoscopic resection of CLM has been reported in infants. Our goal was to state whether it can also be a viable option in adults. Between 2007 and 2014, 11 patients had a thoracoscopic resection of a CLM (six lobectomies and five anatomic segmentectomies) with satisfactory results. Although being more challenging in adults due to infectious sequellae, this approach is safe. PMID:25922729

  1. Congestive hepatopathy secondary to large renal arteriovenous malformation

    PubMed Central

    Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A

    2013-01-01

    A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173

  2. Congestive hepatopathy secondary to large renal arteriovenous malformation.

    PubMed

    Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A

    2013-01-01

    A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173

  3. Transcranial colour-coded duplex sonography of cerebral arteriovenous malformations

    Microsoft Academic Search

    R. W. Baumgartner; H. P. Mattle; G. Schroth

    1996-01-01

    A transcranial colour-coded duplex sonography (TCCD) study was performed to evaluate the sensitivity of detection and the\\u000a feasibility of visualising details of cerebral arteriovenous malformations (AVMs). We prospectively examined 15 patients with\\u000a 2 large (> 4 cm), 7 medium-size (2–4 cm) and 6 small (< 2 cm) radiologically proven supratentorial AVMs of the brain using\\u000a TCCD. A feeding vessel was

  4. Cord blood banking for potential future transplantation.

    PubMed

    Lubin, Bertram H; Shearer, William T

    2007-01-01

    In recent years, umbilical cord blood, which contains a rich source of hematopoietic stem and progenitor cells, has been used successfully as an alternative allogeneic donor source to treat a variety of pediatric genetic, hematologic, immunologic, and oncologic disorders. Because there is diminished risk of graft-versus-host disease after transplantation of cord stem cells using matched related donors, the use of less-than-completely matched HLA cord blood stem cells may incur less risk of graft-versus-host disease than mismatched cells from either a related or unrelated "walking" donor, although this remains to be proven. Gene-therapy research involving modification of autologous cord blood stem cells for the treatment of childhood genetic disorders, although experimental at the present time, may prove to be of value. These scientific advances have resulted in the establishment of not-for-profit and for-profit cord blood-banking programs for allogeneic and autologous cord blood transplantation. Many issues confront institutions that wish to establish or participate in such programs. Parents often seek information from their physicians about this new biotechnology option. This document is intended to provide information to guide physicians in responding to parents' questions about cord blood donation and banking and the types and quality of cord blood banks. Provided also are recommendations about appropriate ethical and operational standards, including informed consent policies, financial disclosures, and conflict-of-interest policies for physicians, institutions, and organizations that operate or have a relationship with cord blood-banking programs. PMID:17200285

  5. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    PubMed Central

    Ragge, Nicola K.; Brown, Alison G.; Poloschek, Charlotte M.; Lorenz, Birgit; Henderson, R. Alex; Clarke, Michael P.; Russell-Eggitt, Isabelle; Fielder, Alistair; Gerrelli, Dianne; Martinez-Barbera, Juan Pedro; Ruddle, Piers; Hurst, Jane; Collin, J. Richard O.; Salt, Alison; Cooper, Simon T.; Thompson, Pamela J.; Sisodiya, Sanjay M.; Williamson, Kathleen A.; FitzPatrick, David R.; Heyningen, Veronica van; Hanson, Isabel M.

    2005-01-01

    Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the patients, which range from bilateral anophthalmia to retinal defects resembling Leber congenital amaurosis and pigmentary retinopathy. Magnetic resonance imaging scans revealed defects of the optic nerve, optic chiasm, and, in some cases, brain. In two families, the mutations appear to have occurred de novo in severely affected offspring, and, in two other families, the mutations have been inherited from a gonosomal mosaic parent. Data from these four families support a simple model in which OTX2 heterozygous loss-of-function mutations cause ocular malformations. Four additional families display complex inheritance patterns, suggesting that OTX2 mutations alone may not lead to consistent phenotypes. The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling. PMID:15846561

  6. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

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

    1995-12-31

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

  7. Multimodality intraoperative neurophysiological monitoring during Onyx embolization of cerebrovascular malformations.

    PubMed

    Deshaies, Eric M; Singla, Amit; Allott, Geoffrey; Villwock, Mark R; Li, Fenghua; Gorji, Reza

    2015-03-01

    General anesthesia prohibits neurological examination during embolization of cerebrovascular malformations when provocative testing prior to pedicle occlusion is needed. Intraoperative neurophysiological monitoring (IONM) has the potential to fill this gap but remains relatively unexplored. We conduct a retrospective review of consecutive patients with cerebrovascular malformations treated with Onyx (ethylene vinyl alcohol copolymer, dissolved in dimethyl sulfoxide) embolization under general anesthesia with IONM from 2009 to 2012. Somatosensory evoked potentials (SSEPs), transcranial motor evoked potentials (TcMEPs), visual evoked potential (VEPs), auditory brainstem response (ABR), and electroencephalography (EEG) were used selectively in all patients depending on the location of the malformation. Provocative testing combined with IONM was performed in 28 patients over 75 sessions. Three patients demonstrated changes in TcMEPs or ABR during provocative testing, which halted the planned embolization. Two patients demonstrated changes in baseline SSEPs after embolization, despite normal IONM during provocative testing, correlating with postprocedural contralateral weakness. Six patients developed visual deficits after arterial occlusion despite unchanged VEPs and occipital EEG during provocative testing and embolization. We therefore conclude that the sensitivity of TcMEPs and SSEPs is preferable to EEG, and we strongly caution against relying on occipital recorded VEPs to predict visual deficits. PMID:26036117

  8. OBESITY AND THE RISK AND DETECTION OF FETAL MALFORMATIONS

    PubMed Central

    RACUSIN, Diana; STEVENS, Blair; CAMPBELL, Genevieve; AAGAARD-TILLERY, Kjersti

    2012-01-01

    The incidence of obesity in pregnancy has increased over the past two decades, with nearly 50% of U.S. women aged 15–49 are classified as overweight or obese. Obesity (independent of diabetes) among gravidae poses unique risks which extend towards the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including neural tube defects, cardiac anomalies, and orofacial clefts as well as stillbirth and macrosomia. Unfortunately, several lines of evidence also suggest that the quality of the prenatal fetal anatomic survey and certain aspects of prenatal diagnostic screening programs are significantly limited. The net effect is that among obese gravidae, the increased risk of fetal anomalies is further offset by a concomitant diminished ability to sonographically detect such malformation in the prenatal interval. The purpose of this summary review is to systematically examine the evidence suggesting an increased risk of fetal malformations in obese gravidae, the contributing role of diabetes, and the limitations of prenatal diagnostic and sonographic screening among this at-risk population. PMID:22713503

  9. Acute respiratory arrest. A complication of malformation of the shunt in children with myelomeningocele and Arnold-Chiari malformation.

    PubMed

    Tomita, T; McLone, D G

    1983-02-01

    Three children had hydrocephalus associated with myelomeningocele and the Arnold-Chiari malformation. They all experienced neck pain and opisthotonos, followed by the sudden onset of respiratory arrest as a result of the malfunction of a CSF shunt. There were no changes in pupillary response, and each patient remained alert until shortly before the respiratory arrest. Prompt surgical revision of the CSF shunt was carried out, and all three patients recovered. The mechanism of acute respiratory arrest seems to be acute compression of the brainstem as a result of hydrocephalus. The supratentorial pressure is direct on the posterior fossa structures through the enlarged tentorial opening, which is one of the characteristics of the brain in the Arnold-Chiari malformation. Sudden respiratory arrest, a life-threatening complication, is a result of a malfunction of the CSF shunt in children with myelomeningocele and requires prompt surgical decompression. PMID:6849301

  10. Split supersymmetry radiates flavor

    NASA Astrophysics Data System (ADS)

    Baumgart, Matthew; Stolarski, Daniel; Zorawski, Thomas

    2014-09-01

    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.

  11. Split SUSY Radiates Flavor

    E-print Network

    Matthew Baumgart; Daniel Stolarski; Thomas Zorawski

    2014-09-19

    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 WIMP dark matter. 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.

  12. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  13. Split-illumination electron holography

    SciTech Connect

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

    2012-07-23

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

  14. Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation.

    PubMed

    Golden, Michael; Saeidi, Saba; Liem, Benny; Marchand, Eric; Morrison, Leslie; Hart, Blaine

    2015-02-01

    Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two-hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease. PMID:25565562

  15. Neonatal umbilical cord myiasis in New Jersey.

    PubMed

    Puvabanditsin, S; Malik, I; Weidner, L M; Jadhav, S; Sanderman, J; Mehta, R

    2014-09-01

    Human myiasis is a rare condition. It is more common in tropical regions. Umbilical cord myiasis has not previously been reported from a temperate climate, for example, New Jersey. We report a 9-day-old infant with umbilical cord myiasis. The maggots were identified by the entomologist as the larvae of Sarcophagidae, more commonly known as flesh flies. PMID:25179383

  16. Injectable multifunctional scaffold for spinal cord repair

    Microsoft Academic Search

    Lauren Conova; Pamela Kubinski; Ying Jin; Jennifer Vernengo; Birgit Neuhuber; Itzhak Fischer; Anthony Lowman

    2010-01-01

    Spinal cord injury (SCI) affects thousands of Americans each year. The injury results in local cell loss in the spinal cord, interrupting the connections between brain and periphery. Current treatment options for SCI are limited due to the inability of adult neurons to regenerate in the inhibitory environment of the injured central nervous system (CNS). The primary goal of this

  17. Sonographically detected abnormalities of the umbilical cord

    Microsoft Academic Search

    T. D. Shipp; B. Bromley; B. R. Benacerraf

    1995-01-01

    Objectives: This study was undertaken as a retrospective chart review to evaluate the range of umbilical cord abnormalities detected by prenatal sonography, as well as the outcome and pathologic correlation. Methods: We identified 13 cases of umbilical cord abnormalities detected sonographically over a 46-month period. We evaluated the ultrasound appearance, size, location, and color Doppler characteristic in each case. Results:

  18. The Development of Spinal Cord Anatomy

    Microsoft Academic Search

    J. M. S. Pearce

    2008-01-01

    A panel illustrating spinal cord injury in The Dying Lioness in the British Museum dates to 650 BC. This paper outlines the subsequent progression of knowledge of the anatomy of the spinal cord. The animal dissections of Galen are considered because his deductions persisted through the Dark Ages until the late 18th century. Anatomy advanced gradually to yield discoveries of

  19. Childhood Obesity Research Demonstration (CORD): Evaluation plan

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Childhood Obesity Research Demonstration (CORD) project evaluation will determine the extent to which the CORD model of linking primary care (PC) interventions to public health (PH) interventions in multiple community sectors affects BMI and behavior in children (2 to 12 years). The evaluation c...

  20. Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

    PubMed Central

    Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

    2014-01-01

    Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country. PMID:25006483

  1. Trigeminal neuralgia secondary to Chiari's malformation—treatment with ventriculoperitoneal shunt

    Microsoft Academic Search

    Kanna Gnanalingham; Shabin Man Joshi; Ben Lopez; Habib Ellamushi; Peter Hamlyn

    2005-01-01

    BackgroundTrigeminal neuralgia (TN) is most commonly related to vascular compression of the trigeminal nerve. Trigeminal neuralgia associated with Chiari's malformation and associated hydrocephalus are rare.

  2. Decimetric slow drift split pair

    NASA Astrophysics Data System (ADS)

    Fernandes, F. C. R.; Sawant, H. S.; Zheleznyakov, V. V.

    We report examples of the type III bursts and a patch like emission exhibiting split in frequency observed for the first time. This burst was observed over a frequency range of (1630-1580) MHz lasting for about 15 s, on 15th June, 1991. The separation between the two split components is approximately equal to 30 MHz and lower split frequency component is less intense compared to the higher split frequency component. These observed characteristics favor the hypothesis of conversion of plasma waves by combinational scattering on upgoing ion-sound waves in a magnetic loop. Emission is assumed to be at fundamental and propagation effects explains the observed characteristics of the decimetric long lasting frequency burst. Detailed analysis permits to estimate parameters of the exciter and that of the source sizes.

  3. Use of Umbilical Cord Serum in Ophthalmology

    PubMed Central

    2014-01-01

    Among blood preparations, serum has been topically used in the management of various ocular diseases in ophthalmology. Like peripheral blood serum, umbilical cord blood serum contains a high concentration of essential tear components, growth factors, neurotrophic factors, vitamin A, fibronectin, prealbumin, and oil. Umbilical cord serum can provide basic nutrients for epithelial renewal and can facilitate the proliferation, migration, and differentiation of the ocular surface epithelium. Eye drops made from umbilical cord serum have been applied to treat various ocular surface diseases, including severe dry eye with or without Sjögren's syndrome, ocular complications in graft-versus-host disease, persistent epithelial defects, neurotrophic keratopathy, recurrent corneal erosions, ocular chemical burn, and surface problems after corneal refractive surgery. Because mesenchymal stem cells from umbilical cord blood can be used to regenerate corneal tissue and retinal nerve cells, umbilical cord serum might be applied for tissue engineering and regenerative medicine in the future. PMID:25568842

  4. Time to implement delayed cord clamping.

    PubMed

    McAdams, Ryan M

    2014-03-01

    Immediate umbilical cord clamping after delivery is routine in the United States despite little evidence to support this practice. Numerous trials in both term and preterm neonates have demonstrated the safety and benefit of delayed cord clamping. In premature neonates, delayed cord clamping has been shown to stabilize transitional circulation, lessening needs for inotropic medications and reducing blood transfusions, necrotizing enterocolitis, and intraventricular hemorrhage. In term neonates, delayed cord clamping has been associated with decreased iron-deficient anemia and increased iron stores with potential valuable effects that extend beyond the newborn period, including improvements in long-term neurodevelopment. The failure to more broadly implement delayed cord clamping in neonates ignores published benefits of increased placental blood transfusion at birth and may represent an unnecessary harm for vulnerable neonates. PMID:24499758

  5. Multicentric glioma of the spinal cord.

    PubMed

    al-Wahhabi, B; Choudhury, A R; Chaudhri, K A; Haleem, A; Sharif, H

    1992-01-01

    A 24-year-old woman with neurofibromatosis presented with a 1.5-year history of pain in the neck, both shoulders and back, and a 4-month history of progressively increasing weakness of all the limbs and inability to walk. The limb weakness fluctuated and, at the height of the weakness, it was associated with hesitancy and retention of urine. Magnetic resonance imaging (MRI) showed a fusiform enlargement of the upper cervical cord with obliteration of the subarachnoid space. Imaging after gadolinium-DTPA injection revealed inhomogeneous enhancement extending from the lower medulla down to the C4 cord level, and homogeneous enhancement at D3 to D4 and D6 to D8 cord levels. The spinal cord at the lower two levels appeared morphologically normal. At operation the fusiform enlargement of the cervical cord was confirmed. The tumour was partially removed. Histology revealed it to be a fibrillary astrocytoma. PMID:1449675

  6. Spinal Cord Ischemia Secondary to Hypovolemic Shock

    PubMed Central

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

    2014-01-01

    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

  7. SPLITTING SETS IN INTEGRAL DOMAINS

    Microsoft Academic Search

    D. D. ANDERSON; MUHAMMAD ZAFRULLAH

    Let D be an integral domain. A saturated multiplicatively closed subset S of D is a splitting set if each nonzero d2 D may be written as d = sa where s 2 S and s0D\\\\ aD = s0aD for all s0 2 S. We show that if S is a splitting set in D ,t henSU(DN ) is a

  8. Rehabilitation of spinal cord injuries

    PubMed Central

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

    2015-01-01

    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

  9. Entropy Splitting and Numerical Dissipation

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

    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.

  10. Vasospasm after intraventricular hemorrhage caused by arteriovenous malformation

    PubMed Central

    Tseng, Wei-Lung; Tsai, Yi-Hsin

    2015-01-01

    Intraventricular hemorrhage (IVH) induced vasospasm is rare in clinical practice. We report a case with vasospasm 10 days after IVH due to thalamic bleeding from an arteriovenous malformation. The vasospasm was so severe that transarterial embolization failed. Follow-up angiography could not reveal the vascular lesion and spontaneous thrombosis was considered. The discussion includes literature review and possible mechanism of such phenomenon. IVH-related vasospasm is rare but should always be kept in mind. Early detection with proper treatment provides better clinical outcome in such cases. PMID:25972942

  11. Convergence nystagmus associated with Arnold-Chiari malformation.

    PubMed

    Mossman, S S; Bronstein, A M; Gresty, M A; Kendall, B; Rudge, P

    1990-03-01

    A case of convergence nystagmus associated with an Arnold-Chiari type I malformation is presented. The nystagmus appeared in the absence of fixation, was provoked during Valsalva's maneuver and neck flexion and extension, and attenuated on deep inspiration. Sagittal magnetic resonance images showed that the diameter of the cerebral aqueduct increased with the neck in full flexion and in full extension. Surgical foramen magnum decompression considerably reduced the nystagmus and abolished the postural variation of aqueduct diameter. It is postulated that this nystagmus was due to a combination of mechanical distortion and abnormal transmission of cerebrospinal fluid pressure to the aqueductal region. PMID:2310320

  12. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ? 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  13. Onyx embolization for the treatment of brain arteriovenous malformations

    Microsoft Academic Search

    Feng Xu; Wei Ni; Yujun Liao; Yuxiang Gu; Bin Xu; Bing Leng; Donglei Song

    2011-01-01

    Background  Onyx has emerged in recent years for the endovascular treatment of brain arteriovenous malformations (AVMs). However, the\\u000a role of Onyx embolization is still under discussion. We report our initial experiences in the treatment of brain AVMs with\\u000a Onyx embolization.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Between January 2004 and December 2007, 86 patients with brain AVMs were embolized with Onyx. Clinical presentation included\\u000a intracerebral hemorrhage in

  14. Cesarean scar pregnancy: a rare cause of uterine arteriovenous malformation.

    PubMed

    Akbayir, Ozgur; Gedikbasi, Ali; Akyol, Alpaslan; Ucar, Adem; Saygi-Ozyurt, Sezin; Gulkilik, Ahmet

    2011-01-01

    A 38-year-old gravida 4, para 2 woman with a history of two Cesarean sections and one curettage was referred to our hospital, because of painless vaginal bleeding and 6 weeks + 2 days of amenorrhea. The first diagnosis was Cesarean scar pregnancy, managed with methotrexate. Subsequently, an arteriovenous malformation developed, which was diagnosed with color Doppler imaging. The diagnosis was confirmed with angiography. Successful bilateral uterine artery embolization was performed with ethylene vinyl alcohol copolymer (Onyx), n-butyl-2-cyanoacrylate (Histoacryl), and gelfoam. PMID:21647920

  15. Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort.

    PubMed

    Anthony, S; Kateman, H; Brand, R; den Ouden, A L; Dorrepaal, C A; van der Pal-de Bruin, K M; Buitendijk, S E

    2005-03-01

    Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of congenital malformations, the prevalence in different organ systems and of several specific malformations between different maternal ethnic groups in the Netherlands using a 5-year national birth cohort (1996-2000) containing 881 800 births. Maternal ethnic groups considered were Dutch; Mediterranean (Moroccan/Turkish); other European; Black; Hindu and Asian. Mediterranean women had a 20% higher risk of having a child with a congenital malformation than Dutch women (age-adjusted OR = 1.21 [95% CI 1.16, 1.27]). They showed an increased risk of malformations in several organ systems such as the central nervous system and sensory organs, the urogenital system and skin and abdominal wall. Further, they had an increased risk of the group of chromosomal malformations/multiple malformations/syndromes. For the specific group of multiple malformations the maternal age adjusted OR was 1.80 [95% CI 1.47, 2.20]. The Black group showed a significantly increased risk of skeletal and muscular malformations (age adjusted OR = 1.76 [95% CI 1.53, 2.02]) with a sixfold increased risk of polydactyly compared with the Dutch group. For Mediterranean women, the largest and fastest growing group of immigrants in the Netherlands, this study demonstrated an increased risk of congenital malformations. PMID:15787888

  16. Umbilical cord shortening: quantification postdelivery and postfixation.

    PubMed

    Downey, Andrew; Hore, Kevin; McAuliffe, Fionnuala M; Mooney, Eoghan E

    2014-01-01

    The length of the umbilical cord is an important data item, and little is known about the effects of time and fixation on measurement. Such a change has implications for the diagnosis of a long and short cord. This study was conducted to examine the effects of time and formalin fixation on cord length in a routine practice setting. We measured 90 cords from singleton term pregnancies within 5 minutes of delivery, again in the fresh state at 1 to 2 hours, and again after 24 to 48 hours of formalin fixation. The mean cord length was 536.7 mm at delivery. Mean cord shortening was 17.6 mm (3% reduction in length) between delivery and measurement at 1 to 2 hours, and 62.2 mm (12% reduction) between delivery and measurement after 24 to 48 hours fixation. Both values were statistically significant (P < 0.001). Studies on cord length should include data on time of measurement and fixation status. PMID:24678988

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

    E-print Network

    Grau, James

    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

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

    PubMed Central

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

    2009-01-01

    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

  19. Mapping a Gene Causing Cerebral Cavernous Malformation to 7q11.2-q21

    Microsoft Academic Search

    Murat Gunel; Issam A. Awad; John Anson; Richard P. Lifton

    1995-01-01

    Cerebral cavernous malformation is a common disease of the brain vasculature of unknown cause characterized by dilated thin-walled sinusoidal vessels (caverns); these lesions cause varying clinical presentations which include headache, seizure, and hemorrhagic stroke. This disorder is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kindreds, we have identified linkage of this

  20. Combined spatial-temporal analysis of malformation rates in Bavaria after the Chernobyl accident

    Microsoft Academic Search

    Helmut Küchenhoff; Astrid Engelhardt; Alfred Körblein

    Malformation rates in the German state of Bavaria, as a whole, did not increase in 1987, the year following the Chernobyl accident. Also an analysis of the monthly data does not show any association between radiation exposure and malformation rates seven month later. But in a detailed analysis on the level of districts taking the spatial structure into account we

  1. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Microsoft Academic Search

    H. A. Desal; S. K. Lee; B. S. Kim; S. Raoul; M. Tymianski; K. G. TerBrugge

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We

  2. Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus

    Microsoft Academic Search

    S Obrador; M Soto; J Silvela

    1975-01-01

    Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe

  3. Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension

    Microsoft Academic Search

    Charlene E. U. Oduber; Victor E. A. Gerdes; Chantal M. A. M. van der Horst; Paul Bresser

    2009-01-01

    We report four patients with chronic thromboembolic pulmonary hypertension (CTEPH) presumably due to recurrent pulmonary embolism from low-flow vascular malformations, and give a review of the literature. Venous malformations, such as those observed in Klippel- Trenaunay syndrome (KTS) can be associated with hypercoagulability, thrombosis and recurrent pulmonary embolism and ultimately CTEPH. Since many physicians appear unfamiliar with these potential complications,

  4. Transcatheter Embolization of Extremity Vascular Malformations: The Long-term Success of Multiple Interventions

    Microsoft Academic Search

    Caron B. Rockman; Robert J. Rosen; Glenn R. Jacobowitz; Jonathan Weiswasser; Dirk J. Hofstee; B. Fioole; Patrick J. Lamparello; Mark A. Adelman; Paul J. Gagne; Thomas S. Riles

    2003-01-01

    Vascular malformations of the extremities present a difficult therapeutic challenge. Ligation of feeding vessels may lead to tissue necrosis and limb loss and can make subsequent attempts at transcatheter therapy impossible. The purpose of this study was to review our results with transcatheter embolization therapy in symptomatic vascular malformations in the upper and lower extremities in 50 patients. A retrospective

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

    Microsoft Academic Search

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

    1992-01-01

    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

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

    SciTech Connect

    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

    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.

  7. ADDING INFECTION TO INJURY: SYNERGISTIC EFFECTS OF PREDATION AND PARASITISM ON AMPHIBIAN MALFORMATIONS

    Microsoft Academic Search

    Pieter T. J. Johnson; Eric R. Preu; Daniel R. Sutherland; John M. Romansic; Barbara Han; Andrew R. Blaustein

    2006-01-01

    We explored the importance of interactions between parasite infection and predation in driving an emerging phenomenon of conservation importance: amphibian limb malformations. We suggest that injury resulting from intraspecific predation in combination with trematode infection contributes to the frequency and severity of malformations in salamanders. By integrating field surveys and experiments, we evaluated the individual and combined effects of conspecific

  8. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics

    Microsoft Academic Search

    Marcy C. Speer; David S. Enterline; Lorraine Mehltretter; Preston Hammock; Judith Joseph; Margaret Dickerson; Richard G. Ellenbogen; Thomas H. Milhorat; Michael A. Hauser; Timothy M. George

    2003-01-01

    Chiari type I malformation has traditionally been defined as a downward herniation of the cerebellar tonsils of =5 mm through the foramen magnum and it is likely associated with a volumetrically reduced posterior fossa. Syringomyelia is commonly associated with Chiari type I malformation. We estimate the prevalence of these two conditions and determine that they are more common than previously

  9. Diagnosis and Management of a Vein of Galen Malformation in a Neonate

    Microsoft Academic Search

    Stacy L. French

    2010-01-01

    Vein of Galen arterial malformation (VGAM) is an arteriovenous malformation between cerebral vessels of the circle of Willis and the vein of Galen. VGAM is a direct communication between an artery and a vein resulting in increased cardiac output due to arterial blood flowing directly into a vein and returning directly to the heart, without traversing the full vascular system.

  10. Nanomedicine for treating spinal cord injury

    NASA Astrophysics Data System (ADS)

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

    2013-09-01

    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.

  11. Surgical Management of Patients with Chiari I Malformation

    PubMed Central

    Siasios, John; Kapsalaki, Eftychia Z.; Fountas, Kostas N.

    2012-01-01

    Chiari malformations (CMs) constitute a variety of four mainly syndromes (I, II, III, and IV), which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients. PMID:22811732

  12. Patterns of anomalies in children with malformed ears.

    PubMed

    Rapin, I; Ruben, R J

    1976-10-01

    Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals. PMID:966914

  13. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

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

  14. Treatment of cerebral arteriovenous malformations: combined neurosurgical and neuroradiologic approach.

    PubMed

    Cromwell, L D; Harris, A B

    1983-01-01

    Experience with 31 intraoperative embolizations performed on 23 patients is reported. The procedure involves the direct injection of embolic material into the main arterial feeders during craniotomy. The combined effort involves the exposure of the lesion at craniotomy, standard arteriotomy, and fluoroscopically monitored intravascular infusion of contrast material followed by the injection of bucrylate (IBCA, Ethicon, Somerville, NJ) mixed with tantalum or Pantopaque into the feeding vessels and into the interstices of the malformation. It was concluded that the procedure significantly diminishes operating time and blood loss for the lesions that were subsequently resected. Fluoroscopy coupled with high-quality stop-frame videotape recording allows a detailed study of the flow characteristics of the malformation so that polymerization time can be regulated appropriately. Follow-up varied from 3 months to 4 1/2 years. There were two deaths related to the procedure and one additional complication of cortical blindness that partially resolved. None of the survivors rebled. Most of the survivors improved. PMID:6410746

  15. Evaluation of the association of zoonotic Ljungan virus with perinatal deaths and fetal malformation.

    PubMed

    Zheng, Lili; Wang, Fang; Huang, Jing; Xin, Hong

    2015-03-01

    More and more epidemiologic and experimental data support the notion that Ljungan virus (LV), originally isolated from some rodent populations in Sweden, Denmark, and the United States, plays an important role in stillbirth and fetal malformation. Mouse dams infected with LV may result in uterine resorption and perinatal deaths that may cross generations, and their offspring may suffer high rates of malformations including cranial, brain, and limb malformations. In humans, researches founded that LV infection is related to malformation, intrauterine fetal death, and even central nervous system malformation. Although molecularly characterized, little is known about the biophysical nature of LV. Consequently, the role of LV infections in sudden infant death syndrome is still confusing, and the mechanism of how LV infections cause diseases is not clear. More research is clearly necessary to explore the mechanisms of LV infection in human and animal diseases to bring improvement to the clinical outcomes. PMID:25789980

  16. Split ring containment attachment device

    DOEpatents

    Sammel, Alfred G. (Pittsburgh, PA)

    1996-01-01

    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.

  17. Level splitting at macroscopic scale.

    PubMed

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

    2012-06-29

    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

  18. Interactive Fly: CNS and Ventral Cord Genes

    NSDL National Science Digital Library

    PhD Thomas B Brody (NIH Laboratory of Neurochemistry)

    2006-12-13

    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.

  19. Household Extension Cords Can Cause Fires

    MedlinePLUS

    ... wear or damage to the plug, sockets or insulation. Replace damaged extension cords. Prevent Overloading ? If any ... perform inadequate repairs such as taping up damaged insulation. Do not trim, cut or alter the plug ...

  20. Spinal cord implants for nerve regeneration

    E-print Network

    Abbaschian, Lara Suzanne, 1979-

    2004-01-01

    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 ...

  1. Spinal cord dysfunction complicating meningococcal meningitis

    Microsoft Academic Search

    J. Khan; I. Altafullah; M. Ishaq

    1990-01-01

    A 29 year old male developed paraplegia during the acute phase of meningococcal meningitis. Possible mechanisms for this unusual complication are discussed and the literature regarding spinal cord complications of pyogenic meningitis is reviewed.

  2. International Spinal Cord Injury Data Sets

    Microsoft Academic Search

    F Biering-Sørensen; S Charlifue; M DeVivo; V Noonan; M Post; T Stripling; P Wing

    2006-01-01

    Study design:Discussion and development of final consensus.Objective:Present the background, purpose, and process for the International Spinal Cord Injury (SCI) Data Sets development.Setting:International.Methods:An international meeting on SCI data collection and analysis occurred at a workshop on May 2, 2002, before the combined meeting of the American Spinal Injury Association (ASIA) and the International Spinal Cord Society (ISCoS) in Vancouver, British Columbia,

  3. Embryology of the Spine and Spinal Cord

    Microsoft Academic Search

    Martin Catala

    \\u000a The spine and spinal cord form a couple of structures whose development is highly coordinated, explaining why abnormal development\\u000a of one structure is usually associated with the maldevelopment of the other. The spinal cord differentiates, as does the whole\\u000a central nervous system, from the neural tube. The spine is yielded by the somites, which form the so-called paraxial mesoderm.\\u000a The

  4. Review of spinal cord injuries in Ireland

    Microsoft Academic Search

    R J O'Connor; P C Murray

    2006-01-01

    Study Design:Prospective data collection on all patients with spinal cord injury (SCI) admitted for a comprehensive management programme.Objectives:To examine the epidemiology of SCI in Ireland over 1 year.Setting:Ireland's National Spinal Cord Injury Centre.Methods:Systematic data collection on all patients admitted with SCI for management.Results:A total of 46 patients (40 males) were admitted from January to December 2000; median age was 37

  5. The colon, anorectum, and spinal cord patient

    Microsoft Academic Search

    Walter E. Longo; Garth H. Ballantyne; Irvin M. Modlin

    1989-01-01

    As humans have become more mechanized, the number of persons sustaining spinal cord injuries resulting in quadriplegia or\\u000a paraplegia has increased. Because colorectal function is modulated by a combination of neural, hormonal, and luminal influences,\\u000a many of the normal regulatory mechanisms remain intact in patients with spinal cord injuries. Management of these patients,\\u000a however, requires an understanding of altered function

  6. The biopsychosocial model and spinal cord injury

    Microsoft Academic Search

    KM Mathew; G Ravichandran; K May; K Morsley

    2001-01-01

    Objective: To highlight the importance of taking the psychological, social and biological aspects into consideration when dealing with somatic complaints of spinal cord injured patients.Setting: Supra-regional Spinal Injury Unit in the UK.Study design: Case study series.Material and methods: The somatic complaints of four patients with spinal cord injury were assessed and their relationship to psychological and social issues were correlated.

  7. Widespread spinal cord involvement in corticobasal degeneration

    Microsoft Academic Search

    Yasushi Iwasaki; Mari Yoshida; Manabu Hattori; Yoshio Hashizume; Gen Sobue

    2005-01-01

    We examined spinal cord lesions in eight patients with a pathological diagnosis of corticobasal degeneration (CBD). Using Gallyas-Braak (G-B) staining or AT-8 tau immunostaining, a few neuropil threads were identified in the white matter of the CBD spinal cords, mainly in the anterior funiculus, whereas the posterior funiculus was well preserved without threads. In the gray matter of the CBD

  8. Diagnosis of true umbilical cord knot

    PubMed Central

    Kowalczyk, Dariusz; Wi?cek, Jacek

    2013-01-01

    Introduction Many abnormalities are observed in the morphology and pathology of the umbilical cord. The aim of the study was to assess the role of 3D sonography in pathology of true umbilical cord knots. Material and methods In our materials we observed 10 cases of true umbilical cord knots in a population of 2,864 deliveries. The 2-dimensional transverse scan of the umbilical cord was shown in 3- and 4-dimensional volume scan in order to get a precise image. Results Four knots were diagnosed prenatally, 3 knots were not diagnosed before the delivery and in the 3 remaining cases ultrasound examinations were not undertaken because the patients were in the course of delivery. In the pregnant subjects with diagnosed true umbilical cord knot once a week the Doppler blood flow indices were examined in the umbilical cord sections before and after the knot. In the three shown cases there were no signs of constriction or tightening of the knot. Four newborns were delivered spontaneously and five by caesarean section. In none of the cases was a pathological FHR trace an indication for emergency delivery. Conclusions Four-dimensional and Color Doppler examination is very important to diagnose a true umbilical cord. To make a precise diagnosis a longer observation of the abnormality is necessary and its repeated confirmation by color Doppler and power Doppler. This diagnosis requires strict monitoring of fetal wellbeing during pregnancy and the delivery. Perfection of true umbilical cord knot diagnoses may reduce sudden and unforeseen fetal distress. PMID:24701220

  9. Ganglioside patterns in human spinal cord

    Microsoft Academic Search

    CK Vorwerk

    2001-01-01

    Objective: To examine the distribution of gangliosides in human cervical and lumbar spinal cord.Setting: Magdeburg, Germany.Methods: The ganglioside distribution of human cervical and lumbar spinal cord enlargements from 10 neurological normal patients was analyzed. Gangliosides were isolated from different areas corresponding to the columna anterior, columna lateralis and columna posterior.Results: Ganglioside GfD1b\\/GD1b and GD3 were the most abundant gangliosides in

  10. Biomechanical Aspects of Spinal Cord Injury

    Microsoft Academic Search

    Thomas R. Oxland; Timothy Bhatnagar; Anthony M. Choo; Marcel F. Dvorak; Wolfram Tetzlaff; Peter A. Cripton

    \\u000a Research into the biomechanics of spinal cord injury has progressed rapidly over the past decade via a number of research\\u000a approaches. Cadaveric experimentation, animal model development and computational simulations continue to contribute much\\u000a insight into the relation between spinal column injury (i.e. vertebrae, discs, ligaments) and spinal cord damage. Efforts\\u000a in this research field are directed towards providing clinicians information

  11. Vocal cord dysfunction mimicking bronchial asthma.

    PubMed

    Corren, J; Newman, K B

    1992-11-01

    Vocal cord dysfunction is a possible cause of wheezing and dyspnea in patients who do not respond to conventional asthma therapy. A carefully taken history, pulmonary function testing, and, most important, direct visualization with a flexible laryngoscope during an acute attack allow physicians to differentiate vocal cord dysfunction from asthma. Speech therapy, inhalation of helium and oxygen, and psychiatric counseling play a role in management. PMID:1437901

  12. Problems in Umbilical Cord Blood Collection

    Microsoft Academic Search

    Carolyn Troeger; Sandrine Meyer-Monard; André Tichelli; Gwendolin Manegold; Doris Pauli; Daniel Surbek; Wolfgang Holzgreve; Nicole Bürki

    2007-01-01

    The goal of the Cord Blood Bank Basel is to provide umbilical cord blood (UCB) for allogeneic stem cell transplantations from unrelated donors. Our registry contains 1,044 units, 12 have been released for transplantation (1%). In the past collection mainly took place at the Women?s Hospital Basel, where only 10% of deliveries resulted in HLA-typed and frozen transplants. The aim

  13. Umbilical cord blood banking: an update

    Microsoft Academic Search

    Merlin G. Butler; Jay E. Menitove

    Background  Umbilical cord blood is a potential vast source of primitive hematopoietic stem and progenitor cells available for clinical\\u000a application to reconstitute the hematopoietic system and\\/or restore immunological function in affected individuals requiring\\u000a treatment. Cord blood can be used as an alternative source for bone marrow transplantation and its use is developing into\\u000a a new field of treatment for pediatric and

  14. Spinal cord infarction with cervical angina.

    PubMed

    Nakae, Yoshiharu; Johkura, Ken; Kudo, Yosuke; Kuroiwa, Yoshiyuki

    2013-01-15

    Cervical angina is defined as chest pain resembling true cardiac angina but originating from disorders of the cervical spine. Cervical angina is caused by cervical spondylosis in most cases. A 66-year-old man presented with bilateral arm palsy after chest pain resembling angina pectoris. Neurological examination revealed motor and sensory disturbances of the C7 to T1 level, and magnetic resonance imaging showed a hyperintense spinal cord lesion on T2-weighted imaging. Spinal cord infarction was diagnosed. Severe sinus bradycardia was identified on admission, and improved over the course of 5 weeks. Sympathetic afferent fibers from the heart and coronary arteries generally have their cell bodies in the dorsal root ganglia of the C8 to T9 spinal segments. Electrical stimulation of cardiopulmonary afferent fibers excites spinothalamic tract cells in the T1 to T6 segments of the spinal cord. Spinal cord injury can result in the loss of supraspinal control of the sympathetic system and can cause bradycardia, as commonly seen in patients with severe lesions of the cervical or high-thoracic (T6 or above) spinal cord. Bradycardia in the present case suggested impairment of the sympathetic system at the cervical and thoracic levels. These findings indicated that cervical angina in this case was mediated through the sympathetic nervous system. This represents only the second report of cervical angina caused by spinal cord infarction. PMID:23199591

  15. The split algebras and noncompact Hopf maps

    SciTech Connect

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

    2010-05-15

    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.

  16. A Split Questionnaire Survey Design

    Microsoft Academic Search

    Trivellore E. Raghunathan; James E. Grizzle

    1995-01-01

    This article develops a survey design where the questionnaire is split into components and individuals are administered the varying subsets of the components. A multiple imputation method for analyzing data from this design is developed, in which the imputations are created by random draws from the posterior predictive distribution of the missing parts, given the observed parts by using Gibbs

  17. The Split-Stem Technique

    ERIC Educational Resources Information Center

    Carter, Roy A.

    1972-01-01

    Describes a procedure useful for investigating the effects of substances on plant growth and development. A bean seedling's stem is partially split, and each half is placed in a different nutrient solution. Suggestions for the instructional use of the technique are made. (AL)

  18. Quadrupole splitting in sodium ferrocyanide

    Microsoft Academic Search

    M. J. Evans; P. J. Black

    1970-01-01

    Mossbauer spectra from a single crystal of hydrated sodium ferrocyanide indicate a shift in line position with crystal orientation which is consistent with a quadrupole splitting of 0.56 gamma o. Voigt profile analysis of spectra from powders indicates a smaller broadening of the Lorentz component, 0.27 Gamma o; the inconsistency is explained by preferred orientation in the absorber samples.

  19. Onyx® in the management of cranial arteriovenous malformations.

    PubMed

    Jalaly, Jalal; Dalfino, John; Mousa, Shaker A

    2013-07-01

    The ethylene vinyl alcohol copolymer, Onyx® (ev3, Inc., MN, USA), is an embolic agent used in the management of arteriovenous malformations (AVMs) and was approved by the US FDA in 2005. Use of Onyx has resulted in higher curative rates compared with previous embolic agents such as N-butyl-2-cyanoacrylate. Onyx has several advantages over previous embolic agents. For instance, Onyx is a copolymer and does not adhere to catheters but solidifies slowly owing to the diffusion of its solvent dimethyl sulfoxide. This review focuses on different results obtained from the experience of different neurointerventionalists with an emphasis on the aim to cure. The studies presented are compared in terms of curative rates, morbidity and mortality. Ideas are presented for future treatment options for AVM rupture using nanotargeted therapy with the guide of specific markers highly expressed on the surface of cells or tissues of interest. Such nanotargeted therapy might transform AVM treatment with new embolic agents. PMID:23895072

  20. A case of scrotal venous malformation mimicking a failed varicocelectomy.

    PubMed

    Yi, Chong K; Derosa, Raffaella; Sterbis, Joseph R; Ching, Brian H

    2014-01-01

    A 21-year-old man presented to interventional radiology department with several years of left scrotal pain, which exacerbated by prolonged standing and walking. The patient had undergone a left varicocelectomy at the age of 10, after which he had a persistent scrotal mass. As he grew older, the left scrotal mass continued to increase in size, and symptoms progressively worsened. Physical examination revealed a non-tender, firm left scrotal mass which remained unchanged in size after Valsalva manoeuvres. Initial ultrasound examination revealed an extratesticular, intrascrotal mass with minimal internal flow. MRI revealed a heterogeneously enhancing, low-flow venous malformation centred in the midscrotum involving multiple tissue planes. Two sessions of percutaneous sclerotherapy failed to relieve his pain. Three months after the second sclerotherapy, the patient underwent surgical resection. At the time of his postoperative visit, his left scrotal pain had significantly improved and pain with prolonged standing and walking had resolved completely. PMID:24654244

  1. Quantification of intracerebral steal in patients with arteriovenous malformation

    SciTech Connect

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

    1986-08-01

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

  2. [Thrombosed scapular intramuscular venous malformation: A pediatric case report].

    PubMed

    Fekir, A; Balguerie, X; Bardoux, I; Dacher, J-N; Vivier, P-H

    2015-07-01

    Venous malformation (VM) is a frequent soft tissue mass in children that should not be confused with vascular tumors. We report the case of a 10-year-old boy with a bulky thrombosed VM of the shoulder with functional disability. D-dimer levels were high. Pathognomonic phleboliths were demonstrated on conventional x-rays. Echo-doppler confirmed the venous nature of the lesion and areas without flow suspicious for thrombosis. MRI provides the deep extension and can show non-calcified thrombi that are difficult to see with ultrasound. Localized intravascular coagulopathy is often associated with thrombosis phenomena and has to be confirmed by measurement of D-dimer levels in order to initiate anticoagulation quickly with low-molecular-weight heparin. Follow-up includes measurement of D-dimer levels and potentially MRI to evaluate the anticoagulation efficacy and tailor treatment duration. PMID:26047748

  3. Developmental outcomes of Down syndrome and Dandy-Walker malformation

    PubMed Central

    Love, Kaitlin; Huddleston, Lillie; Olney, Pat; Wrubel, David; Visootsak, Jeannie

    2012-01-01

    Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy. PMID:22866020

  4. Embolization of Arteriovenous Malformation with Diluted Mixture of NBCA

    PubMed Central

    Tamatani, S.; Koike, T.; Ito, Y.; Tanaka, R.

    2000-01-01

    Summary The technique of nidus embolization with N-butyl-2-cyanoacrylate (NBCA) glue is presented. The microcatheter is navigated into the nidus and the tip is set in a wedged position. A diluted mixture of NBCA in ethiodized oil (a 25 % mixture is mainly used) is injected very slowly, using complete column technique. Using this technique, the progression of glues in the nidus can be seen easily, which leads to improve accuracy and effectiveness of embolization. The mean blood pressure is maintained 15% to 20% below baseline for several days after the embolization to prevent hemorrhage caused by normal pressure breakthrough. We believe this technique is very useful and effective method for the treatment of arteriovenous malformations. However; considerable experience in this technique should be required. PMID:20667245

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

    SciTech Connect

    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

    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.

  6. Antibiotics potentially used in response to bioterrorism and the risk of major congenital malformations.

    PubMed

    Cooper, William O; Hernandez-Diaz, Sonia; Arbogast, Patrick G; Dudley, Judith A; Dyer, Shannon M; Gideon, Patricia S; Hall, Kathleen S; Kaltenbach, Lisa A; Ray, Wayne A

    2009-01-01

    This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30 049 infants from Tennessee Medicaid born between 1985 and 2000 identified from computerised state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline and amoxicillin (antibiotics recommended for potential bioterrorism attacks) (n = 24 521) and erythromycin (included as a positive control) (n = 2128) were compared with infants with no fetal exposure to any antibiotics (n = 3400). Major congenital malformations identified from computerised records were confirmed through medical record review. Overall, 869 (2.9%) of infants in the cohort had a confirmed major congenital malformation, with major malformations ranging from 2.5% to 3.0% among the antibiotic-specific exposure groups. No increased risk was present in multivariable analyses for any malformations and for malformations of specific organ systems. In conclusion, these data suggest that ciprofloxacin, azithromycin, doxycycline or amoxicillin use by pregnant women should not result in a greater incidence of overall major congenital malformations in infants whose mothers take these medications, though a large increase in risk cannot be ruled out. PMID:19228311

  7. ANTIBIOTICS POTENTIALLY USED IN RESPONSE TO BIOTERRORISM AND THE RISK OF MAJOR CONGENITAL MALFORMATIONS

    PubMed Central

    Cooper, William O.; Hernandez-Diaz, Sonia; Arbogast, Patrick G.; Dudley, Judith A.; Dyer, Shannon M.; Gideon, Patricia S.; Hall, Kathleen S.; Kaltenbach, Lisa A.; Ray, Wayne A.

    2012-01-01

    SUMMARY This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30,049 infants from Tennessee Medicaid born between 1985–2000 identified from computerized state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline, and amoxicillin (antibiotics recommended for potential bioterrorism attacks) and erythromycin (included as a positive control) were compared to infants with no fetal exposure to any antibiotics. Major congenital malformations identified from computerized records were confirmed through medical record review. Overall, 869 (2.9%) of infants in the cohort had a confirmed major congenital malformation, with major malformations ranging from 2.5%–3.0% among the antibiotic-specific exposure groups. No increased risk was present in multivariable analyses for any malformations and for malformations of specific organ systems. In conclusion, these data suggest that ciprofloxacin, azithromycin, doxycycline, or amoxicillin use by pregnant women should not result in a greater incidence of overall major congenital malformations in infants whose mothers take these medications, though a large increase in risk cannot be ruled out. PMID:19228311

  8. Prenatal observation of umbilical cord abnormalities: a triple knot and torsion of the umbilical cord.

    PubMed

    Collins, J C; Muller, R J; Collins, C L

    1993-07-01

    Umbilical cord abnormalities can be observed with ultrasonography. Two cases are described where a triple knot and torsion of the umbilical cord are observed. These cases allow the elucidation of the mechanics of formation of a triknot and torsion abnormality. PMID:8333430

  9. NPHP4 Variants are Associated with Pleiotropic Heart Malformations

    PubMed Central

    French, Vanessa M.; van de Laar, Ingrid M.B.H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M.E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

    2014-01-01

    Rationale Congenital heart malformations are a major cause of morbidity and mortality especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective To identify genetic mutations causing cardiac laterality defects. Methods and Results We performed a genome-wide linkage analysis in patients with cardiac laterality defects from a consanguineous family. The patients had combinations of defects that included dextrocardia, transposition of great arteries, double outlet right ventricle, atrio-ventricular septal defects and caval vein abnormalities. Sequencing of positional candidate genes identified mutations in NPHP4. We performed mutation analysis of NPHP4 in 146 unrelated patients with similar cardiac laterality defects. Forty-one percent of these patients also had laterality defects of the abdominal organs. We identified eight additional missense variants that were absent or very rare in controls. To study the role of nphp4 in establishing L-R asymmetry, we used antisense morpholinos to knockdown nphp4 expression in zebrafish. Depletion of nphp4 disrupted L-R patterning as well as cardiac and gut laterality. Cardiac laterality defects were partially rescued by human NPHP4 mRNA, whereas mutant NPHP4 containing genetic variants found in patients failed to rescue. We show that nphp4 is involved in the formation of motile cilia in Kupffer’s vesicle (KV), which generate asymmetric fluid flow necessary for normal L-R asymmetry. Conclusions NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. In zebrafish, nphp4 is essential for the development and function of KV cilia and is required for global L-R patterning. PMID:22550138

  10. Stereotactic proton beam therapy for intracranial arteriovenous malformations

    SciTech Connect

    Vernimmen, Frederik J.A.I. [Department of Radiation Oncology, Tygerberg Hospital, Tygerberg (South Africa)]. E-mail: fv@sun.ac.za; Slabbert, Jacobus P. [Department of Radiation Biophysics, iThemba LABS, Somerset West (South Africa); Wilson, Jennifer A. [Department of Radiation Oncology, Little Company of Mary Hospital, Pretoria (South Africa); Fredericks, Shaheeda [Department of Radiography/Therapy, iThemba LABS, Somerset West (South Africa); Melvill, Roger [Department of Neurosurgery, Groote Schuur Hospital, Observatory (South Africa)

    2005-05-01

    Purpose: To investigate hypofractionated stereotactic proton therapy of predominantly large intracranial arteriovenous malformations (AVMs) by analyzing retrospectively the results from a cohort of patients. Methods and Materials: Since 1993, a total of 85 patients with vascular lesions have been treated. Of those, 64 patients fulfilled the criteria of having an arteriovenous malformation and sufficient follow-up. The AVMs were grouped by volume: <14 cc (26 patients) and {>=}14 cc (38 patients). Treatment was delivered with a fixed horizontal 200 MeV proton beam under stereotactic conditions, using a stereophotogrammetric positioning system. The majority of patients were hypofractionated (2 or 3 fractions), and the proton doses are presented as single-fraction equivalent cobalt Gray equivalent doses (SFEcGyE). The overall mean minimum target volume dose was 17.37 SFEcGyE, ranging from 10.38-22.05 SFEcGyE. Results: Analysis by volume group showed obliteration in 67% for volumes <14 cc and 43% for volumes {>=}14 cc. Grade IV acute complications were observed in 3% of patients. Transient delayed effects were seen in 15 patients (23%), becoming permanent in 3 patients. One patient also developed a cyst 8 years after therapy. Conclusions: Stereotactic proton beam therapy applied in a hypofractionated schedule allows for the safe treatment of large AVMs, with acceptable results. It is an alternative to other treatment strategies for large AVMs. AVMs are likely not static entities, but probably undergo vascular remodeling. Factors influencing angiogenesis could play a new role in a form of adjuvant therapy to improve on the radiosurgical results.

  11. Aborting a Malformed Fetus: A Debatable Issue in Saudi Arabia

    PubMed Central

    Al-Alaiyan, Saleh; AlFaleh, Khalid M.

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  12. Aborting a malformed fetus: a debatable issue in saudi arabia.

    PubMed

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  13. Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities

    PubMed Central

    Teves, Maria Eugenia; Sundaresan, Gobalakrishnan; Cohen, David J.; Hyzy, Sharon L.; Kajan, Illya; Maczis, Melissa; Zhang, Zhibing; Costanzo, Richard M.; Zweit, Jamal; Schwartz, Zvi; Boyan, Barbara D.; Strauss, Jerome F.

    2015-01-01

    Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single-nucleotide polymorphisms in the SPAG17 gene have been associated with human height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in Spag17 leads to skeletal malformations. Hind limb length in mutants was significantly shorter than in wild-type mice. Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area and the ratio of bone area to total area, leading to reductions in the ratio of marrow area/total area in the femur. Micro-CTs and von Kossa staining demonstrated increased mineral in the femur. Moreover, osteocalcin and osterix were more highly expressed in mutant mice than in wild-type mice femurs. These data suggest that femur bone shortening may be due to premature ossification. On the other hand, tibias appear to be shorter due to a delay in cartilage and bone development. Morphometric studies showed reduction in growth plate and bone formation. These defects did not affect bone mineralization, although the volume of primary bone and levels of osteocalcin and osterix were higher. Other skeletal malformations were observed including fused sternebrae, reduced mineralization in the skull, medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from knockout mice were shorter and fewer cells had primary cilia in comparison to cells from wild-type mice. In addition, Spag17 knockdown in wild-type MEFs by Spag17 siRNA duplex reproduced the shorter primary cilia phenotype. Our findings disclosed unexpected functions for Spag17 in the regulation of skeletal growth and mineralization, perhaps because of its role in primary cilia of chondrocytes and osteoblasts. PMID:26017218

  14. Complexity of union-split-find problems

    E-print Network

    Lai, Katherine Jane

    2008-01-01

    In this thesis, we investigate various interpretations of the Union-Split-Find problem, an extension of the classic Union-Find problem. In the Union-Split Find problem, we maintain disjoint sets of ordered elements subject ...

  15. 7 CFR 51.2736 - Split.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...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...

  16. Ultrasound-guided endovenous diode laser in the treatment of congenital venous malformations: preliminary experience.

    PubMed

    Sidhu, Manrita K; Perkins, Jonathan A; Shaw, Dennis W W; Bittles, Mark A; Andrews, R Torrance

    2005-06-01

    The authors present their experience in treating congenital venous malformations with ultrasound (US)-guided endovenous diode laser. Six patients underwent treatment of eight venous malformations for complaints including pain, activity limitation, or cosmetic defect. At a mean follow-up interval of 14.5 months, all had either resolution of (five patients) or marked decrease in (one patient) pain, allowing them to resume previously limited activities. There were no instances of nerve damage or skin necrosis. One patient had a self-limited mucosal tongue base ulcer. In this small series of patients, endovenous laser treatment of venous malformations was effective during short-term follow-up. PMID:15947054

  17. [Management of a perineal arteriovenous malformation in a 5-year-old child].

    PubMed

    Galinier, P; Philandrianos, C; Bouali, O; Petit, P; Bardot, J; Salazard, B

    2008-06-01

    Arteriovenous malformations are seldom in children but raise important therapeutic problems. Apart from intracranial arteriovenous malformations, few observations have been described in the literature. We report the case of a superficial perineal arteriovenous malformation in a 5-year-old child. Tailored embolization followed shortly by thorough surgery is the best attitude. Surgery must totally eradicate the lesion to allow hope for a cure. Surgery should be reserved for forms that are extensive or a source of complications. Even total resection does not ensure non-recurrence. PMID:18456473

  18. Utility of 99mTc RBC Scintigraphy in Diagnosing Parotid Venous Malformations.

    PubMed

    Patel, Rosan; Saad, Hannan; Srinivasan, Ashok; Brown, Richard K J

    2015-07-01

    Venous malformations of the parotid glands are uncommon and can be difficult to confirm on routine anatomical imaging alone because of overlap of imaging features with other more common parotid lesions. Tc RBC scans combined with SPECT/CT offer a noninvasive way to diagnose parotid venous malformations without the need for biopsy. Combined with anatomical findings of phleboliths (when present), the diagnosis can be reliably determined. We present a case where MRI and biopsy were inconclusive, but the SPECT/CT was used to confirm the suspicion of a benign venous malformation. PMID:26018710

  19. Congenital cystic adenomatoid malformation presenting as lung abscess in a child.

    PubMed

    Kumar, K Jagadish; Anilkumar, M G; Shivamurthy, Y L; M Kumar, Prashanth

    2012-01-01

    Congenital cystic adenomatoid malformation composes of hamartomatous cystic lung lesions characterised by the presence of abnormal bronchiolar structures of varying sizes or distribution. In most of the cases, respiratory distress occurs during the neonatal period, and in about 90% of patients, congenital cystic adenomatoid malformation is diagnosed before the age of two years due to respiratory infection. We describe a case of congenital cystic adenomatoid malformation presenting as lung abscess in a 3-year six months old male clinically mimicking empyema. He undergone lobectomy and doing well in the follow-up. PMID:23289472

  20. Visualization of Splitting and Merging Processes

    E-print Network

    Robbins, Steven

    of tree processes include cell mitosis, the Unix ÓÖ without a Û Ø 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 ÓÖ . Unlike splitting cells in mitosis, the original Unix process retains its

  1. 7 CFR 51.2002 - Split shell.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...2012-01-01 2012-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture...States Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell having...

  2. 7 CFR 51.2002 - Split shell.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...2011-01-01 2011-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture...States Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell having...

  3. The Market Reaction to Stock Splits

    Microsoft Academic Search

    Christopher G. Lamoureux; Percy Poon

    1987-01-01

    In this paper, a model of market reaction to stock splits is presented and tested. The auth ors argue that the announcement of a split sets off the following cha in of events: the market recognizes that subsequent to the (reverse) split ex-day, the daily number of transactions along with the raw vol ume of shares traded will increase (decrease);

  4. Labelled Splitting Arnaud Fietzke and Christoph

    E-print Network

    a propositional clause set N is split into the clause sets N {A} and N {¬A} for some propositional variable A occurring in N. Obviously, N is satisfiable iff one of the two split clause sets is satisfiable. Furthermore, both split clause sets are simpler than N in the sense that any clause from N containing A can

  5. SplitDist--Calculating Split-Distances for Sets of Trees Thomas Mailund

    E-print Network

    Mailund, Thomas

    SplitDist--Calculating Split-Distances for Sets of Trees Thomas Mailund Bioinformatics Research present a tool for comparing a set of input trees, calculating for each pair of trees the split, there is a close relationship between the edges of a tree and the possible splits of the leaves into two sets. Each

  6. Mechanical factors in experimental spinal cord injury.

    PubMed

    Blight, A

    1988-01-01

    Reliable animal models of spinal cord injury are essential for studying pathological mechanisms and for laboratory testing of experimental treatments. The normal unpredictability of neurological outcome following experimental injury results partly from variations in the mechanics of both apparatus and tissue. Weight drop contusion models have been used extensively, and often effectively within a given study, but direct comparison between studies is usually made impossible by differences in the experimental parameters. The most important differences include the weight-height combination, the mass of the interface between weight and cord, and the support given to the cord from below. There are also important dimensional and physiological variables intrinsic to the biological material, which are usually ignored. A morphometric study of contusion injuries of the cat thoracic cord indicates that the major determinant of axon disruption is the extrusion of tissue from the impact site, due to viscoelastic distortion of the parenchyma within the meningeal tube. Direct compression and shear do not appear to play an important role in this kind of injury, where a brief compression of the cord occurs at an initial velocity of about 1.5 m/sec. The pathology produced by slower compression rates may vary, but the pattern of central necrosis, expected to be produced by extrusion, is common to most types of experimental lesion and to a large proportion of human injuries. PMID:3076595

  7. Cord blood banking: a historical perspective.

    PubMed

    Navarrete, Cristina; Contreras, Marcela

    2009-10-01

    Umbilical cord blood (UCB) contains stem and progenitor cells capable of restoring haematopoietic and immunological function in vivo. UCB is currently used as an alternative source of haematopoietic stem cells for transplantation in patients suffering from haematological malignancies, bone marrow failures and inherited metabolic disorders. In order to facilitate transplantation, large repositories of frozen cord blood units (CBUs) from altruistic donations have been established in many parts of the world and to date there are more than 300,000 units stored worldwide. These products have been banked under stringent quality conditions, in order to ensure their safety and efficacy. The development and evolution of the policies and procedures currently in use in cord blood banking have been largely influenced by the clinical results of cord blood transplantation. This review aims to provide a historical overview of the various developments in the field of cord blood banking from its inception, highlighting the relevant aspects in their collection, banking and release that are known to influence the clinical outcome of these transplants. PMID:19796273

  8. Rehabilitation and treatment of spinal cord tumors

    PubMed Central

    Raj, Vishwa S.; Lofton, LaTanya

    2013-01-01

    Context Due to advances in acute oncological treatment, patients with spinal cord tumors exhibit improved survival. However, these patients have not received the full benefits of rehabilitation services to address their neurological deficits and rehabilitation goals. Objective To evaluate the epidemiology and pathophysiology of spinal cord tumors, address methods of acute oncological management, review treatment for neurological sequelae, and understand the implications as they relate to rehabilitation. Methods An extensive literature review was performed regarding the epidemiology, pathophysiology, acute oncological management, neurological sequelae, and rehabilitation for patients with spinal cord tumors. Databases used included pubmed.gov and OVID, as well as individual journal and textbook articles. Results Access to treatment should be increased given improved survival and functional deficits for patients with spinal cord tumors. Individuals can benefit from inpatient rehabilitation programs, in spite of increased medical co-morbidity and neurological deficits. Specific areas of improvement include functionality, mood, quality of life, and survival. Adjustments to treatment plans must incorporate medical complications from cancer and its treatment, perceived quality of life, and prognosis. Conclusions Patients with spinal cord tumors who participate in rehabilitation programs show general improvement in function, mood, quality of life, and survival. Adaptations to care plans should be made to accommodate medical co-morbidities from cancer and its treatment, patient perceptions, and prognosis. PMID:23433329

  9. Umbilical cord blood lead levels in California

    SciTech Connect

    Satin, K.P.; Neutra, R.R.; Guirguis, G.; Flessel, P. (California Department of Health Services, Berkeley (USA))

    1991-05-01

    During the fall of 1984, we conducted a survey of umbilical cord blood lead levels of 723 live births that occurred at 5 hospitals located in 5 cities in California. Historical ambient air lead levels were used as a qualitative surrogate of air and dust exposure. The area-specific cord blood means (all means {approximately} 5 micrograms/dl), medians, deciles, and distributions did not vary among locations. The California distributions included means that were lower than the 6.6 micrograms/dl reported in Needleman et al.'s Boston study in 1979. Indeed, the entire California distribution was shifted to the left of the Boston study distribution, even though 3% of the California cord lead levels exceeded 10 micrograms/dl--the level above which Needleman et al. have documented psychoneurological effects in children during the first few years of life. Fourteen percent of premature babies had cord blood lead levels above 10 micrograms/dl. The association between prematurity (i.e., less than 260 d gestation) and elevated (greater than 5 micrograms/dl) cord blood lead was observed in all hospitals and yielded a relative risk of 2.9 (95% CI: .9, 9.2) and a population attributable risk of 47%. Further research is needed to confirm this association and to explore the roles of endogenous and exogenous sources of lead exposure to the mothers who give birth to premature infants.

  10. Split torque transmission load sharing

    NASA Technical Reports Server (NTRS)

    Krantz, T. L.; Rashidi, M.; Kish, J. G.

    1992-01-01

    Split torque transmissions are attractive alternatives to conventional planetary designs for helicopter transmissions. The split torque designs can offer lighter weight and fewer parts but have not been used extensively for lack of experience, especially with obtaining proper load sharing. Two split torque designs that use different load sharing methods have been studied. Precise indexing and alignment of the geartrain to produce acceptable load sharing has been demonstrated. An elastomeric torque splitter that has large torsional compliance and damping produces even better load sharing while reducing dynamic transmission error and noise. However, the elastomeric torque splitter as now configured is not capable over the full range of operating conditions of a fielded system. A thrust balancing load sharing device was evaluated. Friction forces that oppose the motion of the balance mechanism are significant. A static analysis suggests increasing the helix angle of the input pinion of the thrust balancing design. Also, dynamic analysis of this design predicts good load sharing and significant torsional response to accumulative pitch errors of the gears.

  11. Angiomyxoma: a rare tumor of the umbilical cord.

    PubMed

    Göksever, Hale; Celilo?lu, Murat; Küpelio?lu, Ali

    2010-01-01

    Tumors of the umbilical cord are rare anomalies and should be considered when using prenatal ultrasound for detection of cystic lesions. Differential diagnosis of umbilical cord tumors should comprise umbilical cord teratoma, hemangioma and angiomyxoma. It can also be an umbilical cord polyp, umbilical cord cyst, hernia into the cord and omphalocele, which are mostly isolated findings, except omphalocele. Angiomyxoma is a rare tumor of the umbilical cord and is associated with incresaed perinatal morbidity and mortality. We present a 22-year-old woman with a large umbilical cord tumor who underwent a caesarean section. As in our case, neither chromosomal aberrations nor elevated alphafetoprotein were found after amniocentesis or chordocentesis. Macroscopical and microscopical pathological examinations of the mass after delivery revealed an angiomyxoma with cystic degenerations in myxoid stroma. PMID:24591896

  12. Vocational Rehabilitation of Persons with Spinal Cord Injuries

    ERIC Educational Resources Information Center

    Poor, Charles R.

    1975-01-01

    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)

  13. 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 ... no known ways to reverse damage to the spinal cord. However, researchers are continually working on new treatments, ...

  14. Current status of umbilical cord blood hematopoietic stem cell transplantation

    Microsoft Academic Search

    Eliane Gluckman

    2000-01-01

    ObjectiveThe number of umbilical cord blood transplants is increasing worldwide. At this time, it is important to evaluate their results and to compare the outcome of umbilical cord blood transplants with allogeneic bone marrow transplants.

  15. A Multivessel Umbilical Cord with a Single Umbilical Artery

    PubMed Central

    Panda, Subrat; Jha, Vandana; Khonglah, Yookarin; Dey, Biswajit

    2013-01-01

    Umbilical cord abnormalities are known to be associated with congenital anomalies, chromosomal abnormalities and potential complications during pregnancy. We are reporting a case of a multivessel umbilical cord which comprised two umbilical veins alongwith a single umbilical artery. PMID:23998091

  16. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    PubMed

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

    2014-10-01

    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

  17. Intraosseous venous malformations of the zygoma: clarification of misconceptions regarding diagnosis and management.

    PubMed

    Defazio, Michael V; Kassira, Wrood; Camison, Liliana; Meshkov, Lauren; Robinson, Philip G; Kawamoto, Henry K; Thaller, Seth R

    2014-03-01

    Primary intraosseous venous malformations affecting the zygoma are rare vascular lesions, with only 35 cases reported in the surgical literature. Despite the establishment of the binary classification system, which serves to distinguish vascular tumors from malformations, inappropriate use of the term "hemangioma" to describe a variety of distinct vascular anomalies remains widespread. The authors present 3 cases of zygomatic intraosseous venous malformations and summarize the clinical, radiographic, and immunohistochemical features of these lesions. In each case, an insidious clinical course, combined with the pathognomonic finding of radiating trabeculae on computed tomography, suggests the diagnosis of intraosseous venous malformation. Negative glucose transporter isoform 1 immunoreactivity and histopathological analysis were used to reinforce this diagnosis in 1 patient. Management was individualized in each case, based on symptom complex and aesthetic concern. Given that the therapeutic approach to vascular anomalies is dependent on accurate diagnosis, resolution of semantic matters will optimize the management of these lesions. PMID:23241780

  18. Posttraumatic active bleeding of mediastinal mixed vascular malformation: a case report.

    PubMed

    Soudack, Michalle; Vladovski, Eugene; Guralnik, Ludmilla; Ben-Nun, Alon; Engel, Ahuva

    2006-07-01

    A case of an actively bleeding mediastinal mass in a 4-year-old boy who sustained multitrauma is described. A computed tomography (CT) scan of the chest upon admission demonstrated a mediastinal mass, which enlarged significantly as seen by repeat CT scan at 3 days with a concomitant drop in serum hemoglobin levels. The lesion was excised, and pathological examination established the diagnosis of a lymphatic-venous malformation containing bloody fluid. Lymphatic-venous malformations are rare vascular malformations and are usually found in the head and neck and less commonly at other sites. Spontaneous bleeding is a known complication, and there are few reports describing posttraumatic hemorrhage. Our case is the first description in the English medical literature of a posttraumatic bleeding mediastinal mixed vascular malformation and includes sequential CT scans illustrating the dynamic nature of hemorrhage. PMID:16818071

  19. Ethical language and decision-making for prenatally diagnosed lethal malformations

    PubMed Central

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

    2014-01-01

    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

  20. Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels

    E-print Network

    Kim, Tyson N.

    Arteriovenous (AV) malformation (AVM) is a devastating condition characterized by focal lesions of enlarged, tangled vessels that shunt blood from arteries directly to veins. AVMs can form anywhere in the body and can cause ...

  1. [Potentialities of magnetic resonance imaging in the complex of prenatal radiation diagnosis of fetal malformations].

    PubMed

    Mikha?lov, M K; Akberov, R F; Anisimov, V I; Iusupov, K F

    2004-01-01

    The purpose of the study was to investigate the potentialities of magnetic resonance imaging (MRI) in the complex of prenatal radiation diagnosis of fetal malformations. Twenty-eight female patients with suspected fetal malformations were examined. Ultrasound study was supplemented by MRI according to a specially developed protocol. Various fetal CNS malformations were diagnosed. These included the Arnold-Chiari syndrome, the Dandy-Walker syndrome, occlusive hydrocephaly, lobular holoprosencephaly, porencephaly, diaphragmatic hernias, anomalies of the abdomen and retroperitoneal space, as well as anomalies of facial structures, including median clefts, and dacryocystocele. The use of MRI in the complex prenatal radiation diagnosis makes it possible to visualize fetal malformation more clearly, contributes to the more adequate prediction of the outcome of pregnancy and to the choice of a management policy for a female patient. PMID:15462048

  2. Causes of Spinal Cord Injury

    PubMed Central

    2013-01-01

    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

  3. Oxidative Stress in the Spinal Cord of Dogs and Cats

    Microsoft Academic Search

    Wendy Baltzer

    \\u000a Oxidative stress in spinal cord disease is considered a secondary mechanism of injury following a primary traumatic event\\u000a such as vertebral fracture or intervertebral disk protrusion (intervertebral disk disease). The primary spinal cord injury\\u000a often results in decreased perfusion of the spinal cord due to compression from bone, disk, hematoma, or granuloma. This decreased\\u000a blood flow to the cord, or

  4. Private Cord Blood Banking: Current Use and Clinical Future

    Microsoft Academic Search

    Peter Hollands; Catherina McCauley

    2009-01-01

    International private umbilical cord blood banking has expanded rapidly in recent years since the first cord blood transplant\\u000a which was 20 years ago. Private companies offer parents the opportunity to store umbilical cord blood for the possible future\\u000a use by their child or other family members. The private cord blood industry has been criticised by a number of professional\\u000a bodies including

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

    PubMed

    Tosi, B; Maestro, S; Marcheschi, M

    1995-10-01

    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

  6. Groupwise Multi-Atlas Segmentation of the Spinal Cord’s Internal Structure

    PubMed Central

    Asman, Andrew J.; Bryan, Frederick W.; Smith, Seth A.; Reich, Daniel S.; Landman, Bennett A.

    2014-01-01

    The spinal cord is an essential and vulnerable component of the central nervous system. Differentiating and localizing the spinal cord internal structure (i.e., gray matter vs. white matter) is critical for assessment of therapeutic impacts and determining prognosis of relevant conditions. Fortunately, new magnetic resonance imaging (MRI) sequences enable clinical study of the in vivo spinal cord’s internal structure. Yet, low contrast-to-noise ratio, artifacts, and imaging distortions have limited the applicability of tissue segmentation techniques pioneered elsewhere in the central nervous system. Additionally, due to the inter-subject variability exhibited on cervical MRI, typical deformable volumetric registrations perform poorly, limiting the applicability of a typical multi-atlas segmentation framework. Thus, to date, no automated algorithms have been presented for the spinal cord’s internal structure. Herein, we present a novel slice-based groupwise registration framework for robustly segmenting cervical spinal cord MRI. Specifically, we provide a method for (1) pre-aligning the slice-based atlases into a groupwise-consistent space, (2) constructing a model of spinal cord variability, (3) projecting the target slice into the low-dimensional space using a model-specific registration cost function, and (4) estimating robust segmentations using geodesically appropriate atlas information. Moreover, the proposed framework provides a natural mechanism for performing atlas selection and initializing the free model parameters in an informed manner. In a cross-validation experiment using 67 MR volumes of the cervical spinal cord, we demonstrate sub-millimetric accuracy, significant quantitative and qualitative improvement over comparable multi-atlas frameworks, and provide insight into the sensitivity of the associated model parameters. PMID:24556080

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

    Microsoft Academic Search

    M. Roth

    1986-01-01

    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)

  8. Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation

    Microsoft Academic Search

    Sabine Defoort-Dhellemmes; Eric Denion; Carl F. Arndt; Isabelle Bouvet-Drumare; Jean-Claude Hache; Patrick Dhellemmes

    2002-01-01

    PURPOSE: To report a case of acute comitant esotropia successfully treated with suboccipital decompression in a 9-year-old male patient with Chiari I malformation.DESIGN: Interventional case report.METHODS: A 9-year-old male with Chiari I malformation had acute onset of diplopia, headache, and comitant esotropia.RESULTS: About 9 months after suboccipital decompression, diplopia resolved and there was near orthophoria on examination 15 months after

  9. Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

    PubMed Central

    Laureano, André; Carvalho, Rodrigo; Amaro, Cristina; Freitas, Isabel; Cardoso, Jorge

    2014-01-01

    Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type. PMID:25506441

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

    PubMed

    Requena, L; Sangueza, O P

    1997-10-01

    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

  11. Laser treatment of mucosal venous malformations of the upper aerodigestive tract in 50 patients

    Microsoft Academic Search

    Behfar Eivazi; Susanne Wiegand; Afshin Teymoortash; Andreas Neff; Jochen A. Werner

    2010-01-01

    We examined the clinical appearance of mucosal venous malformations of the upper aerodigestive tract with regard to their\\u000a accessibility to laser therapy and further assessed the value of treatment of these lesions with the Nd:YAG and CO2 lasers. A retrospective study was performed in 50 patients who had undergone laser treatment for mucosal low-flow vascular\\u000a malformations of the upper aerodigestive

  12. Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery

    SciTech Connect

    Geyik, Serdar; Yavuz, Kivilcim; Keller, Frederick S. [Oregon Health and Sciences University, Dotter Interventional Institute (United States)], E-mail: kellerf@ohsu.edu

    2006-10-15

    Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported.

  13. Embolisation of pulmonary arteriovenous malformations: results and follow up in 32 patients

    Microsoft Academic Search

    T J Haitjema; T T Overtoom; C J Westermann; J W Lammers

    1995-01-01

    BACKGROUND--Pulmonary arteriovenous malformations may cause a number of complications when left untreated. Embolisation of the feeding vessels is a relatively new approach and information concerning its efficacy and long term results is scarce. METHODS--Pulmonary arteriovenous malformations with feeding arteries of > 3 mm were treated by embolisation. Right to left shunt fraction and arterial oxygen pressure breathing air (PaO2) were

  14. Pregnancy-associated acquired arteriovenous malformation of the nail unit: a novel cause of localized erythronychia.

    PubMed

    Rutnin, Suthinee; Nguyen, Jennifer V; Miller, Christopher J; DeHoratius, Danielle; Rubin, Adam I

    2012-11-01

    Localized longitudinal erythronychia describes a solitary red streak limited to a single nail unit. Localized longitudinal erythronychia can be caused by both benign and malignant entities. Most commonly, the cause is a benign process, such as an onychopapilloma. We report a case of an acquired subungual arteriovenous malformation that presented as localized longitudinal erythronychia during pregnancy. To our knowledge, this is the first report of localized longitudinal erythronychia arising from a pregnancy-associated arteriovenous malformation of the nail unit. PMID:22882235

  15. Magnetic resonance appearance of slow flow vascular malformations of the brainstem

    Microsoft Academic Search

    C. Griffin; R. DeLaPaz; D. Enzmann

    1987-01-01

    Twelve patients with slow flow brain stem vascular malformations had magnetic resonance scans performed on a 1.5 Tesla scanner using T1 (TR=400–800 ms, TE=25 ms) and T2 (TR=2000 ms, TE=20, 25, 80 ms) weighted scans. Eight patients (70%) had solitary brainstem vascular malformations while 4 (30%) had multiple lesions both supra and infratentorially. Five patients had venous angiomas demonstrated by

  16. A case of Dandy-Walker malformation associated with occipital meningocele, microphthalamia, and cleft palate

    Microsoft Academic Search

    S. Nishimaki; H. Yoda; K. Seki; T. Kawakami; H. Akamatsu; Y. Iwasaki

    1990-01-01

    We present a case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate. Small numbers of cases of Dandy-Walker malformation with occipital meningocele have been described in the literature, but to our knowledge, non of these also had microphthalmia or cleft palate. This association suggests that time of intrauterine origin of Dandy-Walker syndrome was in the sixth or

  17. Vascular anatomy of the spinal cord

    SciTech Connect

    Thron, A.K.

    1988-01-01

    The book summarizes the anatomic guidelines of external blood supply to the spinal cord. The basic principles of arterial supply and venous drainage are illustrated by explicit schemes for quick orientation. In the first part of the book, systematic radiologic-anatomic investigations of the superficial and deep vessels of all segments of the spinal cord are introduced. The microvascular morphology is portrayed by numerous microradiographic sections in all three dimensions without overshadowing. The three-dimensional representation of the vascular architecture illustrates elementary outlines and details of arterial territories, anastomotic cross-linking as well as the capillary system, particularly the hitherto unknown structure of the medullary venous system with its functionally important anastomoses and varying regional structures. These often now radiologic-anatomic findings are discussed as to their functional and pathophysiologic impact and constitute the basic on which to improve one's understanding of vascular syndromes of the spinal cord.

  18. Compression behavior of porcine spinal cord white matter

    Microsoft Academic Search

    Carolyn J. Sparrey; Tony M. Keaveny

    2011-01-01

    Spinal cord injury often results from a compressive load; however, the compression behavior of spinal cord white matter has not been clearly established. Quantifying the compression behavior is important for advancing our understanding of spinal cord injury mechanics and facilitating the use of finite element models to study injury. The objective of this study was to characterize the unconfined compression

  19. Endogenous Repair after Spinal Cord Contusion Injuries in the Rat

    Microsoft Academic Search

    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

    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

  20. Original Article Electrophysiological changes in isolated spinal cord white matter

    E-print Network

    Shi, Riyi

    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

  1. Technical Note Functional MRI of the Thoracic Spinal Cord During

    E-print Network

    Smith, Stephen D.

    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

  2. Introduction In the developing dorsal spinal cord, different classes of

    E-print Network

    Kharasch, Evan

    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

  3. Spinal Crawlers: Deformable Organisms for Spinal Cord Segmentation and Analysis

    E-print Network

    Hamarneh, Ghassan

    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

  4. NOCICEPTIVE PLASTICITY INHIBITS ADAPTIVE LEARNING IN THE SPINAL CORD

    E-print Network

    Grau, James

    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

  5. Chronic cervical spinal cord injury and autonomic hyperreflexia in rats

    E-print Network

    Schramm, Lawrence P.

    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

  6. Peripheral Inflammation Undermines the Plasticity of the Isolated Spinal Cord

    E-print Network

    Grau, James

    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

  7. Towards Optimal Pain Relief: Acupuncture and Spinal Cord Stimulation

    E-print Network

    Kreinovich, Vladik

    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

  8. Turkish Adaptation of Spinal Cord Independence Measure--Version III

    ERIC Educational Resources Information Center

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

    2012-01-01

    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…

  9. Sexuality Counseling with Clients Who Have Spinal Cord Injuries.

    ERIC Educational Resources Information Center

    Farrow, Jeff

    1990-01-01

    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…

  10. Gait Analysis of Adult Paraplegic Rats after Spinal Cord Repair

    Microsoft Academic Search

    Henrich Cheng; Susanne Almström; Lydia Giménez-Llort; Robert Chang; Sven Ove Ögren; Barry Hoffer; Lars Olson

    1997-01-01

    This study presents a novel detailed method of analysis of rat gait and uses this method to demonstrate recovery of forward locomotion patterns in adult rats made paraplegic by surgical spinal cord transection and subjected to a novel strategy for spinal cord repair. Six normal rats were compared to five animals in which the cord was transected at T8–T9, and

  11. Congenital Oral Mucosal Abnormalities in True Umbilical Cord Knots

    Microsoft Academic Search

    Claudio De Felice; Giorgio Bianciardi; Stefano Parrini; Ricardo N. Laurini; Giuseppe Latini

    2004-01-01

    Objective: The pathogenesis and clinical significance of true umbilical cord knots remain controversial. Here, we tested the hypothesis of the presence of congenital oral mucosal changes in newborns with true umbilical cord knots. Study design: Seven consecutive infants with true umbilical cord knots and 50 gestational age- and sex-matched controls were enrolled. The proportion of oral frenulum abnormalities and the

  12. Spermatic cord metastasis as early manifestation of small bowel adenocarcinoma

    PubMed Central

    Valizadeh, Nasim; Oskuie, Ali Eishi; Tehranchi, Ali

    2013-01-01

    Malignant tumors of the spermatic cord are rare. There are a few case reports on spermatic cord metastasis from colonic, gastric, pancreas, and prostatic cancer. Here, we report a 36-year-old man with brucellosis presenting with spermatic cord metastasis as early manifestation of small bowel adenocarcinoma. PMID:23662014

  13. Remyelination of the injured spinal cord

    PubMed Central

    Sasaki, Masanori; Li, Bingcang; Lankford, Karen L.; Radtke, Christine; Kocsis, Jeffery D.

    2008-01-01

    Contusive spinal cord injury (SCI) can result in necrosis of the spinal cord, but often long white matter tracts outside of the central necrotic core are demyelinated. One experimental strategy to improve functional outcome following SCI is to transplant myelin-forming cells to remyelinate these axons and improve conduction. This review focuses on transplantation studies using olfactory ensheathing cell (OEC) to improve functional outcome in experimental models of SCI and demyelination. The biology of the OEC, and recent experimental research and clinical studies using OECs as a potential cell therapy candidate are discussed. PMID:17618995

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

    PubMed

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

    2015-06-01

    OBJECT Extradural decompression is a minimally invasive technique for treating Chiari malformation Type I (CM-I) that avoids the complications of dural opening. While there is no agreement on which surgical method is optimal, mounting evidence demonstrates that extradural decompression effectively treats clinical symptoms, with a minimal reoperation rate. Neurological symptoms such as headache may be related to obstructed flow of CSF, and one aspect of successful extradural decompression is improved CSF dynamics. In this series, the authors report on their use of phase-contrast cine flow MRI to assess CSF flow as well as satisfactory decompression. METHODS The authors describe their first surgical series of 18 patients with CM-I undergoing extradural decompression and correlate clinical improvement with radiological changes. Patients were categorized as having complete, partial, or no resolution of their symptoms. Posterior fossa area, cisterna magna area, and tonsillar herniation were assessed on T2-weighted MRI, whereas improvement of CSF flow was evaluated with phase-contrast cine flow MRI. All patients received standard pre- and postoperative MRI studies; 8 (44.4%) patients had pre- and postoperative phase-contrast cine, while the rest underwent cine studies only postoperatively. RESULTS All 18 patients presented with symptomatic CM-I, with imaging studies demonstrating tonsillar herniation ? 5 mm, and 2 patients had associated syringomelia. All patients underwent suboccipital decompression and C-1 laminectomy with splitting of the dura. Patients with complete resolution of their symptoms had a greater relative increase in cisterna magna area compared with those with only partial improvement (p = 0.022). In addition, in those with complete improvement the preoperative cisterna magna area was smaller than in those who had either partial (0.020) or no (0.025) improvement. Ten (91%) of the 11 patients with improved flow also had improvement in their symptoms. There was 1 postoperative complication of dysphagia and dysphonia. None of the patients have required a second operation. CONCLUSIONS Extradural decompression has the potential to be the first-line treatment for CM-I but has been lacking an objective measure by which to assess surgical success as well as the need for reoperation. An increase in the CSF spaces and improved CSF dynamics may be associated with resolution of clinical symptoms. Including cine imaging as part of routine pre- and postoperative evaluation can help identify which patients are most likely to benefit from surgery. PMID:25746119

  15. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr. [Univ. of Kansas, Kansas City, KS (United States)] [and others] [Univ. of Kansas, Kansas City, KS (United States); and others

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  16. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  17. Cerebral cavernous malformations: natural history and clinical management.

    PubMed

    Gross, Bradley A; Du, Rose

    2015-07-01

    Cavernous malformations (CMs) are angiographically-occult clusters of dilated sinusoidal channels that may present clinically with seizures, focal neurological deficits and/or hemorrhage. Across natural history studies, the annual hemorrhage rate ranged from 1.6-3.1% per patient-year, decreasing to 0.08-0.2% per patient-year for incidental CMs and to 0.3-0.6% for the collective group of unruptured CMs. Prior hemorrhage is a significant risk factor for subsequent CM hemorrhage. Hemorrhage clustering, particularly within the first 2 years, is an established phenomenon that may confound results of natural history studies evaluating the rate of rehemorrhage. Indeed, rehemorrhage rates for hemorrhagic CMs range from 4.5-22.9% in the literature. Surgical resection is the gold standard treatment for surgically-accessible, symptomatic CMs. Incidental CMs or minimally symptomatic, surgically inaccessible eloquent lesions may be considered for observation. Stereotactic radiosurgery is a controversial treatment approach of consideration only for cases of highly aggressive, surgically inaccessible CMs. PMID:26098013

  18. An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis

    PubMed Central

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

    2014-01-01

    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

  19. Upper limb malformations in chromosome 22q11 deletions

    SciTech Connect

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

    1996-03-29

    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.

  20. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

    PubMed Central

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-01-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  1. Gastrointestinal stromal tumor mimicking arteriovenous malformation of the jejunum.

    PubMed

    Shiozawa, Kazue; Watanabe, Manabu; Igarashi, Yoshinori; Ichimori, Mioe; Hirano, Naoki; Nakano, Shigeru; Maeda, Tetsuya; Yamazaki, Kunihiro; Okubo, Youichiro; Nemoto, Tetsuo; Shibuya, Kazutoshi; Sumino, Yasukiyo

    2011-09-01

    There have been case reports of small intestinal gastrointestinal stromal tumors (GISTs) complicated with arteriovenous malformation (AVM) and angiodysplasia and exhibiting intense tumor staining. Herein we report a GIST of the small intestine that showed tumor staining and early venous return on imaging studies, and so the patient was suspected to have AVM. A 62-year-old male presented with intermittent pain in the left abdominal region. Contrast-enhanced computed tomography revealed a 15-mm-long spindle-shaped mass showing intense tumor staining and early venous return through the jejunal vein. In the arterial phase, the attenuation value of the tumor was 250 Hounsfield units. Color Doppler ultrasonography simultaneously delineated vessels extending from the serosal side and turbulent signals showing a mosaic pattern in the tumor. On angiography, intense staining was observed in the peripheral part of the second branch of the jejunal artery. Although these findings suggested AVM, the tumor was diagnosed as a GIST based on pathological examination of the resected specimens. In this case, no AVM or change in vascular density was noted despite the careful examination of pathological specimens, and the cause of the tumor staining remained unknown. PMID:22110415

  2. Acute respiratory distress syndrome after onyx embolization of arteriovenous malformation.

    PubMed

    Tawil, Isaac; Carlson, Andrew P; Taylor, Christopher L

    2011-01-01

    Purpose. We report a case of a 60-year-old male who underwent sequential Onyx embolizations of a cerebral arteriovenous malformation (AVM) which we implicate as the most likely etiology of subsequent acute respiratory distress syndrome (ARDS). Methods. Case report and literature review. Results. Shortly after the second Onyx embolization procedure, the patient declined from respiratory failure secondary to pulmonary edema. Clinical entities typically responsible for pulmonary edema including cardiac failure, renal failure, iatrogenic volume overload, negative-pressure pulmonary edema, and infectious etiologies were evaluated and excluded. The patient required mechanical ventilatory support for several days, delaying operative resection. The patient met clinical and radiographic criteria for ARDS. After excluding other etiologies of ARDS, we postulate that ARDS developed as a result of Onyx administration. The Onyx copolymer is dissolved in dimethyl sulfoxide (DMSO), a solvent excreted through the lungs and has been implicated in transient pulmonary side effects. Additionally, a direct toxic effect of the Onyx copolymer is postulated. Conclusion. Onyx embolization and DMSO toxicity are implicated as the etiology of ARDS given the lack of other inciting factors and the close temporal relationship. A strong physiologic rationale provides further support. Clinicians should consider this uncommon but important complication. PMID:21687580

  3. Urinary tract anomalies in patients with anorectal malformation.

    PubMed

    Islam, M N; Hasina, K; Reza, M S; Hasanuzzaman, S M; Akter, T; Talukder, S A

    2015-04-01

    Urinary tract anomalies are common associated anomalies in anorectal malformation (ARM) and major contributory factor for high morbidity and mortality in ARM. In this study, urinary tract anomalies were evaluated in 72 patients of ARM (43 high varieties & 29 low varieties) that were admitted in Dhaka Medical College & Hospital (DMCH) during the period of January 2007 to April 2008. In all cases, evaluation was done by ultrasonogram (USG) and voiding cysto-urethrography (VCUG). Intravenous urography (IVU) was done in selected cases. Urinary tract anomalies were found in 20(27.85%) cases of ARM patients. These anomalies were significantly higher 16(37.2%) in high variety of ARM than 4(13.8%) those with low variety of ARM. The pattern of urological anomalies were vesicoureteral reflux (VUR - 35%), hydronephrosis due to PUJ obstruction (25%), posterior urethral valve (PUV - 15%), renal agenesis (10%), duplex ureter (10%) and bladder diverticulum (5%). Before definite management of ARM urological evaluation is essential to prevent renal damage and to reduce the morbidity and mortality. PMID:26007265

  4. Genetics of cerebral cavernous malformations: current status and future prospects.

    PubMed

    Choquet, H; Pawlikowska, L; Lawton, M T; Kim, H

    2015-09-01

    Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients. We reviewed articles published in PubMed in English prior to March 2015 and provide an update on CCM mutations and the screening strategies used to identify them. Further, we summarize the specific clinical features related to CCM genotypes. As 5% to 15% of familial CCM cases remain genetically unexplained, we also discuss future approaches to expand understanding of the genetic architecture of CCM. Finally, we discuss possible genetic modifiers of CCM disease severity and progression. Understanding the genetic architecture of CCM is essential for an earlier diagnosis of the disease, predictive testing of at-risk patients, and design of targeted medical therapies of which there are currently none available. PMID:25900426

  5. Microsurgical Treatment and Outcome of Pediatric Supratentorial Cerebral Cavernous Malformation

    PubMed Central

    Noh, Jung-Hoon; Cho, Kyung Rae; Yeon, Je Young; Seol, Ho Jun

    2014-01-01

    Objective The purpose of this study was to investigate the clinical features and outcomes of pediatric cavernous malformation (CM) in the central nervous system. Methods Twenty-nine pediatric patients with supratentorial CM underwent microsurgical excision. In selected cases, transparent tubular retractor system (TTRS) was used to reduce retraction injury and intraoperative neuromonitoring (IONM) was held to preserve functioning cortex. Patients' demographics and symptoms were reviewed and surgical outcomes were discussed. Results The main initial clinical manifestations included the following : seizures (n=13, 45%), headache (n=7, 24%), focal neurological deficits (n=3, 10%), and an incidental finding (n=6, 21%). Overt hemorrhage was detected in 7 patients (24%). There were 19 children (66%) with a single CM and 10 (34%) children with multiple CMs. In 7 cases with deep-seated CM, we used a TTRS to minimize retraction. In 9 cases which location of CM was at eloquent area, IONM was taken during surgery. There was no major morbidity or mortality after surgery. In the 29 operated children, the overall long-term results were satisfactory : 25 (86%) patients had no signs or symptoms associated with CMs, 3 had controllable seizures, and 1 had mild weakness. Conclusion With the assistance of neuronavigation systems, intraoperative neuromonitoring, and TTRS, CMs could be targeted more accurately and excised more safely. Based on the satisfactory seizure outcome achieved, complete microsurgical excision in children is recommended for CMs presenting with seizures but removal of hemosiderin-stained areas seems to be unnecessary. PMID:25368767

  6. Gastric foregut cystic developmental malformation: Case series and literature review

    PubMed Central

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

    2015-01-01

    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

  7. Biology of cerebral arteriovenous malformations with a focus on inflammation.

    PubMed

    Mouchtouris, Nikolaos; Jabbour, Pascal M; Starke, Robert M; Hasan, David M; Zanaty, Mario; Theofanis, Thana; Ding, Dale; Tjoumakaris, Stavropoula I; Dumont, Aaron S; Ghobrial, George M; Kung, David; Rosenwasser, Robert H; Chalouhi, Nohra

    2015-02-01

    Cerebral arteriovenous malformations (AVMs) entail a significant risk of intracerebral hemorrhage owing to the direct shunting of arterial blood into the venous vasculature without the dissipation of the arterial blood pressure. The mechanisms involved in the growth, progression and rupture of AVMs are not clearly understood, but a number of studies point to inflammation as a major contributor to their pathogenesis. The upregulation of proinflammatory cytokines induces the overexpression of cell adhesion molecules in AVM endothelial cells, resulting in enhanced recruitment of leukocytes. The increased leukocyte-derived release of metalloproteinase-9 is known to damage AVM walls and lead to rupture. Inflammation is also involved in altering the AVM angioarchitecture via the upregulation of angiogenic factors that affect endothelial cell proliferation, migration and apoptosis. The effects of inflammation on AVM pathogenesis are potentiated by certain single-nucleotide polymorphisms in the genes of proinflammatory cytokines, increasing their protein levels in the AVM tissue. Furthermore, studies on metalloproteinase-9 inhibitors and on the involvement of Notch signaling in AVMs provide promising data for a potential basis for pharmacological treatment of AVMs. Potential therapeutic targets and areas requiring further investigation are highlighted. PMID:25407267

  8. Malformation of the human superior olive in autistic spectrum disorders.

    PubMed

    Kulesza, Randy J; Lukose, Richard; Stevens, Lisa Veith

    2011-01-01

    Autistic spectrum disorders (ASD) comprise a continuum of psychosocial disorders clinically characterized by social difficulties, impaired communication skills and repetitive behavioral patterns. Despite the prevalence of ASD, the neurobiology of this disorder is poorly understood. However, abnormalities in neuronal morphology, cell number and connectivity have been described throughout the autistic brain. Further, there is ample evidence that auditory dysfunction is a common feature of autism. Our preliminary investigation of neuronal morphology in the auditory brainstem of individuals with ASD focused on the medial superior olive (MSO) and revealed that neurons in this region were significantly smaller and rounder than in controls. In this report, we expand our investigation to examine all nuclei within the human superior olivary complex (SOC), an important auditory brainstem center. We examine neuronal morphology and neuronal number in four control (average age=15 years) and 9 autistic brains (average age=15 years). This detailed investigation supports our previous descriptions of the MSO, and also reveals significant dysmorphology in five other SOC nuclei. Moreover, we provide evidence of a consistent and significant decrease in the number of SOC neurons in the autistic brain. Our studies implicate an extensive malformation of the auditory brainstem in the hearing and language difficulties in individuals with ASD. The results from this investigation suggest that neonatal testing of auditory function may aid in the identification of individuals with ASD earlier than presently possible. PMID:20946889

  9. Trends in cord blood banking

    PubMed Central

    Arrojo, Isidro Prat; Lamas, María del Carmen Hernández; Verdugo, Laura Ponce; Alfaro, Pascual Rizo; Pena, Rebeca Rodríguez; Gordo, Francisco Sánchez; Maldonado, Pilar Gómez; Gémar, Gracia García

    2012-01-01

    Background Umbilical cord blood (UCB) is a source of hematopoietic precursor cells for transplantation. The creation of UCB banks in 1992 led to the possibility of storing units of UCB for unrelated transplants. The distribution of cell contents in historical inventories is not homogenous and many units are not, therefore, suitable for adults. The aim of this study was to analyse our UCB bank inventory, evaluate the units released for transplantation and calculate the cost of the current process per unit of UCB stored. Methods Three study periods were defined. In the first period, from January 1996 to January 2006, the total nucleated cell (TNC) count acceptable for processing was 4–6×108 and a manual processing system was used. In the second period, from October 2006 to July 2010, processing was automated and the acceptable TNC count varied from 8–10×108. In the third period, from January 2009 to June 2010, an automated Sepax-BioArchive procedure was used and the accepted initial TNC count was >10×108. Within each period the units were categorised according to various ranges of cryopreserved TNC counts in the units: A, >16.2×108; B1, from 12.5–16.1×108; B2, from 5.2–12.4×108; and C, <5.1×108. Results The third period is best representative of current practices, with homogenous TNC acceptance criteria and automated processing. In this period 15.7% of the units were category A and 25.5% were category B. Overall, the mean TNC count of units released for transplantation was 14×108 (range, 4.6×108 to 36.5×108). The cost of the processed UCB in 2009 was 720.41 euros per unit. Conclusion An UCB bank should store units of high-quality, in terms of the TNC count of units issued for transplantation, have a training programme to optimise the selection of donors prior to delivery, use similar volume reduction systems and homogenous recovery indices, express its indicators in the same units, use validated analytical techniques, and bear in mind ethnic minorities. PMID:22153685

  10. Split quaternion nonlinear adaptive filtering.

    PubMed

    Ujang, Bukhari Che; Took, Clive Cheong; Mandic, Danilo P

    2010-04-01

    A split quaternion learning algorithm for the training of nonlinear finite impulse response adaptive filters for the processing of three- and four-dimensional signals is proposed. The derivation takes into account the non-commutativity of the quaternion product, an aspect neglected in the derivation of the existing learning algorithms. It is shown that the additional information taken into account by a rigorous treatment of quaternion algebra provides improved performance on hypercomplex processes. A rigorous analysis of the convergence of the proposed algorithms is also provided. Simulations on both benchmark and real-world signals support the approach. PMID:19926443

  11. Prevalence, Risk Factors and Outcomes of Velamentous and Marginal Cord Insertions: A Population-Based Study of 634,741 Pregnancies

    PubMed Central

    Ebbing, Cathrine; Kiserud, Torvid; Johnsen, Synnøve Lian; Albrechtsen, Susanne; Rasmussen, Svein

    2013-01-01

    Objectives To determine the prevalence of, and risk factors for anomalous insertions of the umbilical cord, and the risk for adverse outcomes of these pregnancies. Design Population-based registry study. Setting Medical Birth Registry of Norway 1999–2009. Population All births (gestational age >16 weeks to <45 weeks) in Norway (623,478 singletons and 11,263 pairs of twins). Methods Descriptive statistics and odds ratios (ORs) for risk factors and adverse outcomes based on logistic regressions adjusted for confounders. Main outcome measures Velamentous or marginal cord insertion. Abruption of the placenta, placenta praevia, pre-eclampsia, preterm birth, operative delivery, low Apgar score, transferral to neonatal intensive care unit (NICU), malformations, birthweight, and perinatal death. Results The prevalence of abnormal cord insertion was 7.8% (1.5% velamentous, 6.3% marginal) in singleton pregnancies and 16.9% (6% velamentous, 10.9% marginal) in twins. The two conditions shared risk factors; twin gestation and pregnancies conceived with the aid of assisted reproductive technology were the most important, while bleeding in pregnancy, advanced maternal age, maternal chronic disease, female foetus and previous pregnancy with anomalous cord insertion were other risk factors. Velamentous and marginal insertion was associated with an increased risk of adverse outcomes such as placenta praevia (OR?=?3.7, (95% CI?=?3.1–4.6)), and placental abruption (OR?=?2.6, (95% CI?=?2.1–3.2)). The risk of pre-eclampsia, preterm birth and delivery by acute caesarean was doubled, as was the risk of low Apgar score, transferral to NICU, low birthweight and malformations. For velamentous insertion the risk of perinatal death at term was tripled, OR?=?3.3 (95% CI?=?2.5–4.3). Conclusion The prevalence of velamentous and marginal insertions of the umbilical cord was 7.8% in singletons and 16.9% in twin gestations, with marginal insertion being more common than velamentous. The conditions were associated with common risk factors and an increased risk of adverse perinatal outcomes; these risks were greater for velamentous than for marginal insertion. PMID:23936197

  12. Symptomatic epidural lipomatosis of the spinal cord in a child: MR demonstration of spinal cord injury

    Microsoft Academic Search

    Alberto Muñoz; James A. Barkovich; Fernando Mateos; Rogelio Simón

    2002-01-01

    We report a case of symptomatic epidural lipomatosis in an 8-year-old girl with Cushing's syndrome secondary to longstanding high-dose steroid therapy for Crohn's disease. MR imaging of the spine revealed massive diffuse epidural fat compressing the entire spinal cord with T2 prolongation in the central gray matter of the cord suggesting ischemic myelopathy. This finding has not been previously demonstrated

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

    PubMed Central

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

    2011-01-01

    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

  14. In-vivo spinal cord deformation in flexion

    NASA Astrophysics Data System (ADS)

    Yuan, Qing; Dougherty, Lawrence; Margulies, Susan S.

    1997-05-01

    Traumatic mechanical loading of the head-neck complex results cervical spinal cord injury when the distortion of the cord is sufficient to produce functional or structural failure of the cord's neural and/or vascular components. Characterizing cervical spinal cord deformation during physiological loading conditions is an important step to defining a comprehensive injury threshold associated with acute spinal cord injury. In this study, in vivo quasi- static deformation of the cervical spinal cord during flexion of the neck in human volunteers was measured using magnetic resonance (MR) imaging of motion with spatial modulation of magnetization (SPAMM). A custom-designed device was built to guide the motion of the neck and enhance more reproducibility. the SPAMM pulse sequence labeled the tissue with a series of parallel tagging lines. A single- shot gradient-recalled-echo sequence was used to acquire the mid-sagittal image of the cervical spine. A comparison of the tagged line pattern in each MR reference and deformed image pair revealed the distortion of the spinal cord. The results showed the cervical spinal cord elongates during head flexion. The elongation experienced by the spinal cord varies linearly with head flexion, with the posterior surface of the cord stretching more than the anterior surface. The maximal elongation of the cord is about 12 percent of its original length.

  15. Sleep disordered breathing following spinal cord injury

    Microsoft Academic Search

    Fin Biering-Sørensen; Poul Jennum; Michael Laub

    2009-01-01

    Individuals with spinal cord injury (SCI) commonly complain about difficulty in sleeping. Although various sleep disordered breathing definitions and indices are used that make comparisons between studies difficult, it seems evident that the frequency of sleep disorders is higher in individuals with SCI, especially with regard to obstructive sleep apnea. In addition, there is a correlation between the incidence of

  16. Spinal Cord Simulation for Chronic Pain Management

    E-print Network

    Kreinovich, Vladik

    Spinal Cord Simulation for Chronic Pain Management: Towards an Expert System Kenneth M. Al'o 1 , Richard Al'o 2 , Andre de Korvin 2 , and Vladik Kreinovich 3 1 Pain and Health Management Center 17270 Red@cs.utep.edu Abstract Chronic pain is a serious health problem affecting millions of people worldwide. Currently, spinal

  17. Spinal cord compression due to brown tumor.

    PubMed

    Pikis, Stylianos; Cohen, José E; Vargas, Andres; Schroeder, Josh; Kaplan, Leon; Itshayek, Eyal

    2015-06-01

    We report a rare case of a vertebral brown tumor causing spinal cord compression and resulting in progressive paraparesis in a 27-year-old female with end-stage renal failure, managed with hemodialysis. Urgent neurosurgical intervention and gross total resection resulted in complete resolution of the symptoms. PMID:25769249

  18. Therapeutic interventions after spinal cord injury

    Microsoft Academic Search

    Sandrine Thuret; Lawrence D. F. Moon; Fred H. Gage

    2006-01-01

    Spinal cord injury (SCI) can lead to paraplegia or quadriplegia. Although there are no fully restorative treatments for SCI, various rehabilitative, cellular and molecular therapies have been tested in animal models. Many of these have reached, or are approaching, clinical trials. Here, we review these potential therapies, with an emphasis on the need for reproducible evidence of safety and efficacy.

  19. Employment Outcomes Following Spinal Cord Injury.

    ERIC Educational Resources Information Center

    Engel, S.; Murphy, G. S.; Athanasou, J. A.; Hickey, L.

    1998-01-01

    A study of 83 Australian adults with spinal cord injuries found that at least 56% had worked at some time post-injury and those who were working when surveyed had done so for an average of close to 10 years. Clerical, office, and administrative occupations proved to be the most suitable. (Author/CR)

  20. Accommodating Workers with Spinal Cord Injury.

    ERIC Educational Resources Information Center

    Dowler, Denetta; Batiste, Linda; Whidden, Eddie

    1998-01-01

    Examination of over 1,000 calls to the Job Accommodation Network involving workers with spinal cord injury identified the nature of the industry, job, career progression, and accessibility solutions. The number of calls increased dramatically after passage of the Americans with Disabilities Act. (SK)

  1. Autonomic function following cervical spinal cord injury

    Microsoft Academic Search

    Andrei Krassioukov

    2009-01-01

    Spinal cord injury (SCI) is commonly associated with devastating paralysis. However, this condition also results in a variety of autonomic dysfunctions, primarily: cardiovascular, broncho-pulmonary, urinary, gastrointestinal, sexual, and thermoregulatory. SCI and the resultant unstable autonomic control are responsible for increased mortality from cardiovascular and respiratory disease among individuals with SCI.Injury level and severity directly correlate to the severity of autonomic

  2. Treatment of early stage vocal cord carcinoma

    SciTech Connect

    Ayers, G.

    1989-03-01

    The cure rates for early stage vocal cord cancer are excellent with primary radiotherapy. Voice quality remains as good or becomes better than prior to treatment. For the local failures that do occur, surgical salvage will yield ultimate cure rates of about 95% for T1 and 90% for T2 tumors.

  3. Combined simple and complex cord knots

    Microsoft Academic Search

    Ralph N. Roberts

    1995-01-01

    Both double true knots and complex knots of the umbilical cord are rare events. This report presents a case in which the two occurrences were combined. Apart from some early decelerations in the first stage of labour, there was no evidence of fetal compromise. A mid-cavity forceps delivery performed for poor maternal effort resulted in the birth of a healthy

  4. Current obstetrical practice and umbilical cord prolapse.

    PubMed

    Usta, I M; Mercer, B M; Sibai, B M

    1999-01-01

    The aim of this study was to assess the contribution of current obstetrical practice to the occurrence and complications of umbilical cord prolapse. Maternal and neonatal charts of 87 pregnancies complicated by true umbilical cord prolapse during a 5-year period were reviewed. Twin gestation and noncephalic presentations were common features (14 and 41%, respectively). Eighty-nine percent (77) of infants were delivered by cesarean section of which 29% were classical and 88% were primary. The mean gestational age at delivery was 34.0 +/- 6.0 weeks, and the mean birth weight was 2318 +/- 1159 g. Obstetrical intervention preceded 41 (47%) cases (the obstetrical intervention group): amniotomy (9), scalp electrode application (4), intrauterine pressure catheter insertion (6), attempted external cephalic version (7), expectant management of preterm premature rupture of membranes (14), manual rotation of the fetal head (1), and amnioreduction (1). There were 11 perinatal deaths. Thirty-three percent of the infants (32) had a 5-min Apgar score < 7 and 34% had a cord pH < 7.20. Neonatal seizures, intracerebral hemorrhage, necrotizing enterocolitis, hyaline membrane disease, persistent fetal circulation, sepsis, assisted ventilation, and perinatal mortality were comparable in the "obstetrical intervention" and "no-intervention" groups. Most of the neonatal complications occurred in infants < 32 weeks' gestation. We conclude that obstetrical intervention contributes to 47% of umbilical cord prolapse cases; however, it does not increase the associated perinatal morbidity and mortality. PMID:10774764

  5. Ex vivo expansion of cord blood

    Microsoft Academic Search

    S S Kelly; C B S Sola; M de Lima; E Shpall

    2009-01-01

    A marked increase in the utilization of umbilical cord blood (UCB) transplantation has been observed in recent years; however, the use of UCB as a hematopoietic stem cell (HSC) source is limited primarily by the number of progenitor cells contained in the graft. Graft failure, delayed engraftment and profound delay in immune reconstitution lead to significant morbidity and mortality in

  6. Transplantation of ex vivo expanded cord blood

    Microsoft Academic Search

    Elizabeth J Shpall; Ralph Quinones; Roger Giller; Chan Zeng; Anna E Baron; Roy B Jones; Scott I Bearman; Yago Nieto; Brian Freed; Nancy Madinger; Christopher J Hogan; Vicki Slat-Vasquez; Peggy Russell; Betsy Blunk; Deborah Schissel; Elaine Hild; Janet Malcolm; William Ward; Ian K McNiece

    2002-01-01

    Umbilical cord blood (CB) from unrelated donors is increasingly used to restore hematopoiesis after myeloablative therapy. CB transplants are associated with higher rates of delayed and failed engraftment than are bone marrow transplants, particularly for adult patients. We studied the ex vivo expansion of CB in an attempt to improve time to engraftment and reduce the graft failure rate in

  7. Differentiation of idiopathic spinal cord herniation from CSF-isointense intraspinal extramedullary lesions displacing the cord.

    PubMed

    Haber, Marc D; Nguyen, Dustin D; Li, Shan

    2014-01-01

    Focal spinal cord displacement can be caused by idiopathic spinal cord herniation (ISCH), in which the cord protrudes through a dural defect into the epidural space, causing cord displacement and tethering. ISCH is uncommon and often is misdiagnosed initially, which results in delayed management. ISCH can be mimicked by space-occupying cerebrospinal fluid (CSF)-isointense intraspinal extramedullary lesions, such as epidermoid cysts or teratomas, intradural arachnoid cysts, epidural hematomas or abscesses, cystic nerve sheath tumors, synovial or Tarlov cysts, meningoceles, and pseudomeningoceles. Initial computed tomography (CT) and unenhanced magnetic resonance (MR) imaging studies may depict focal cord displacement and a widened CSF space but often are not sufficient to identify the underlying cause. High-resolution thin-section MR imaging can delineate the exact location of the dural defect and the protrusion of the herniated cord through this defect into the epidural space. At imaging, unimpeded CSF pulsation artifacts seen within a widened CSF space exclude a space-occupying lesion. A filling defect seen at conventional or CT myelography can help confirm a CSF-isointense space-occupying lesion; intravenous contrast agent administration can help exclude a rim-enhancing cystic extramedullary lesion. The clinical presentation usually is nonspecific, but symptom acuity, fever, and trauma can guide the imaging evaluation and help narrow the differential diagnosis. A multimodality imaging approach is essential to differentiate ISCH from space-occupying CSF-isointense intraspinal extramedullary lesions. PMID:24617681

  8. Autoregulation of spinal cord blood flow: is the cord a microcosm of the brain

    SciTech Connect

    Hickey, R.; Albin, M.S.; Bunegin, L.; Gelineau, J.

    1986-11-01

    The autoregulatory capability of regional areas of the brain and spinal cord was demonstrated in 18 rats anesthetized with a continuous infusion of intravenous pentothal. Blood flow was measured by the injection of radioactive microspheres (Co57, Sn113, Ru103, Sc46). Blood flow measurements were made at varying levels of mean arterial pressure (MAP) which was altered by neosynephrine to raise MAP or trimethaphan to lower MAP. Autoregulation of the spinal cord mirrored that of the brain, with an autoregulatory range of 60 to 120 mm Hg for both tissues. Within this range, cerebral blood flow (CBF) was 59.2 +/- 3.2 ml/100 g/min (SEM) and spinal cord blood flow (SCBF) was 61.1 +/- 3.6. There was no significant difference in CBF and SCBF in the autoregulatory range. Autoregulation was also demonstrated regionally in the left cortex, right cortex, brainstem, thalamus, cerebellum, hippocampus and cervical, thoracic and lumbar cord. This data provides a coherent reference point in establishing autoregulatory curves under barbiturate anesthesia. Further investigation of the effects of other anesthetic agents on autoregulation of the spinal cord is needed. It is possible that intraspinal cord compliance, like intracranial compliance, might be adversely affected by the effects of anesthetics on autoregulation.

  9. Split-mode ultrasonic transducer.

    PubMed

    Ostrovskii, Igor; Cremaldi, Lucien

    2013-08-01

    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

  10. Spin resonance without spin splitting

    NASA Astrophysics Data System (ADS)

    Hell, M.; Sothmann, B.; Leijnse, M.; Wegewijs, M. R.; König, J.

    2015-05-01

    We predict that a single-level quantum dot without discernible splitting of its spin states develops a spin-precession resonance in charge transport when embedded into a spin valve. The resonance occurs in the generic situation of Coulomb blockaded transport with ferromagnetic leads whose polarizations deviate from perfect antiparallel alignment. The resonance appears when electrically tuning the interaction-induced exchange field perpendicular to one of the polarizations—a simple condition relying on vectors in contrast to usual resonance conditions associated with energy splittings. The spin resonance can be detected by stationary d I /d V spectroscopy and by oscillations in the time-averaged current using a gate-pulsing scheme. The generic noncollinearity of the ferromagnets and junction asymmetry allow for an all-electric determination of the spin-injection asymmetry, the anisotropy of spin relaxation, and the magnitude of the exchange field. We also investigate the impact of a nearby superconductor on the resonance position. Our simplistic model turns out to be generic for a broad class of coherent few-level quantum systems.

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

    PubMed

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

    2015-02-01

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

  12. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

    Microsoft Academic Search

    R E Clatterbuck; C G Eberhart; B J Crain; D Rigamonti

    2001-01-01

    OBJECTIVESCerebral cavernous malformations are linked to mutations of the KRIT1 gene at the CCM1 locus and to mutations at two other loci, CCM2 and CCM3, for which genes are not yet identified. There is little information regarding the function of KRIT1. Histological and immunocytochemical analysis of cavernous malformations have not shed much light on their pathophysiology.METHODSMorphological analysis of cavernous malformations

  13. Malformations and mortality in the Asian Common Toad induced by exposure to pleurolophocercous cercariae (Trematoda: Cryptogonimidae).

    PubMed

    Jayawardena, Uthpala A; Tkach, Vasyl V; Navaratne, Ayanthi N; Amerasinghe, Priyanie H; Rajakaruna, Rupika S

    2013-06-01

    Malformations and increased mortality due to infection by the digenetic trematode, Riberioa ondatrae have been reported for many species of amphibians. Severe malformations have also been reported in the Common Hourglass Tree Frog, Polypedates cruciger induced by pleurolophocercous cercariae in Sri Lanka in addition to the changes in the behaviour, development and survival of the host. We exposed pre-limb bud stage tadpoles (Gosner stages 25-26) of the Asian Common Toad, Duttaphrynus melanostictus to the same pleurolophocercous type cercariae under laboratory conditions. Molecular and morphological identification showed that these cercariae belonged Acanthostomum burminis infecting freshwater snakes as definitive hosts. These cercariae induced malformations (27.8%) and reduced survival to metamorphosis (53.8%). The magnitude of the effects increased with the dose of cercariae. Types of malformations were mainly axial, such as scoliosis and kyphosis. Severe limb malformations such as extra or missing limbs as reported for amphibians exposed to R. ondatrae were not observed in the D. melanostictus. Same authors reported a higher percentage of malformations previously when P. cruciger was exposed to the cercariae A. burminis compared to D. melanostictus. However, tadpoles of D. melanostictus, which are smaller compared to those of P. cruciger, experienced higher mortality than P. cruciger tadpoles. Trematode induced malformations and mortality in amphibians are highly variable and depend on multiple factors such as host species differences such as resistance to infection and tolerance, life-history characteristics such as size at metamorphosis and length of the metamorphosis period, and other factors such as size of the amphibian at the time of trematode exposure. PMID:23353759

  14. Multiple sclerosis of the spinal cord: Magnetic resonance appearance

    SciTech Connect

    Thielen, K.R.; Miller, G.M. [Mayo Clinic, Rochester, MN (United States)] [Mayo Clinic, Rochester, MN (United States)

    1996-05-01

    To determine the MR appearance of spinal cord multiple sclerosis (MS) plaques in patients presenting with myclopathy by using a high-field (1.5 T) imager. We studied 119 patients who underwent high-field (1.5 T) MR studies of the spinal cord for evaluation of myelopathy. All 119 patients were thought to have possible findings of spinal cord MS at the time of the MRI interpretation. Sixty-four plaques were studied in 47 patients with clinically definite MS and adequate quality MRI. Of these patients 68% had a single spinal cord plaque, 19% had two plaques, and 13% had three or more plaques. Sixty-two percent of the plaques occurred in the cervical spinal cord and most frequently involved the posterior (41%) and lateral (25%) aspects of the spinal cord. None of the 64 lesions involved the entire thickness of the spinal cord. The lesion length varied from 2 to 60 mm, with 84% of the lesions <15 mm in length. The spinal cord diameter was unchanged in 84% of plaques, enlarged at the level of the lesion in 14%, and atrophic in 2%. Just over half (55%) of the plaques enhanced with intravenously administered gadolinium. Of the patients who received synchronous head and spinal cord examinations on the same day, 24% had normal findings on the MR study of the head. Follow-up spinal cord studies were available in nine patients. New lesions developed in two patients, while previously described lesions resolved. In three patients only new lesions developed. In four patients no change occurred in the existing number of cord plaques. Spinal cord demyelinating plaques present as well-circumscribed foci of increased T2 signal that asymmetrically involve the spinal cord parenchyma. Knowledge of their usual appearance may prevent unnecessary biopsy. An MR examination of the head may confirm the imaging suggestion of spinal cord demyelinating disease, because up to 76% of patients have abnormal intracranial findings. 15 refs., 7 figs.

  15. Two-loop splitting functions in QCD

    Microsoft Academic Search

    Simon D. Badger; E. W. Nigel Glover

    2004-01-01

    We present the universal two-loop splitting functions that describe the limits of two-loop n-point amplitudes of massless particles when two of the momenta are collinear. To derive the splitting amplitudes, we take the collinear limits of explicit two-loop four-point helicity amplitudes computed in the 't Hooft-Veltman scheme. The g ? gg splitting amplitude has recently been computed using the unitarity

  16. Split Questionnaire Design for Massive Surveys

    Microsoft Academic Search

    Feray Adigüzel; Michel Wedel

    2008-01-01

    Generating Between-Block Designs We start describing the procedure that is used to generate the between-block designs. We assume that if there are N individuals and Q questions, then N\\/K individuals will be assigned randomly to each of the K splits. Each alternative split questionnaire design then consists of an N x Q matrix D with K different split patterns. Each

  17. Averaging for split-step scheme

    Microsoft Academic Search

    Vadim Zharnitsky

    2003-01-01

    The split-step Fourier method for solving numerically nonlinear Schrödinger equations (NLS) is considered as NLS with rapidly varying coefficients. This connection is exploited to justify the split-step approximation using an averaging technique. The averaging is done up to the second order and it is explained why (in this context) symmetric split-step produces a higher order scheme. The same approach is

  18. Visualization of Splitting and Merging Processes

    Microsoft Academic Search

    Kay A. Robbins; Clinton L. Jeffery; Steven Robbins

    2000-01-01

    Information about objects that split or merge is often generated dynamically as a by-product ofcomputation or in the observation of real-world behavior. Visualization tools for such processes must notonly reveal temporal patterns and spatial organization but should also accommodate on-the-fly generationof split-merge information. This paper develops a formal structure for split-merge processes that providesa suitable underpinning for dynamic visualization tools.

  19. A Better Approach to Passive Microphone Splitting

    Microsoft Academic Search

    Jim Brown; Bill Whitlock

    While there are clear technical advantages to active microphone splitting, operational considerations dictate the use of passive splitting of microphones in most sound reinforcement applications. Modern microphones generally re- quire a load impedance greater than 1,000 ohms, and performance often degrades significantly with heavier loading. Since mix desk input impedances rarely exceed 1,500 ohms, passive splitting utilizing 1:1 turns ratio

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

    PubMed Central

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

    2014-01-01

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

  1. Genome-wide copy number variation study in anorectal malformations.

    PubMed

    Wong, Emily H M; Cui, Long; Ng, Chun-Laam; Tang, Clara S M; Liu, Xue-Lai; So, Man-Ting; Yip, Benjamin Hon-Kei; Cheng, Guo; Zhang, Ruizhong; Tang, Wai-Kiu; Yang, Wanling; Lau, Yu-Lung; Baum, Larry; Kwan, Patrick; Sun, Liang-Dan; Zuo, Xian-Bo; Ren, Yun-Qing; Yin, Xian-Yong; Miao, Xiao-Ping; Liu, Jianjun; Lui, Vincent Chi-Hang; Ngan, Elly Sau-Wai; Yuan, Zhen-Wei; Zhang, Shi-Wei; Xia, Jinglong; Wang, Hualong; Sun, Xiao-bing; Wang, Ruoyi; Chang, Tao; Chan, Ivy Hau-Yee; Chung, Patrick Ho-Yu; Zhang, Xue-Jun; Wong, Kenneth Kak-Yuen; Cherny, Stacey S; Sham, Pak-Chung; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercè

    2013-02-01

    Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy individuals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder. PMID:23108157

  2. In-Vitro Simulation of NBCA Embolization for Arteriovenous Malformation

    PubMed Central

    Inagawa, S.; Isoda, H.; Kougo, H.; Isogai S, S.; Sakahara, H.

    2003-01-01

    Summary Embolization using n-butyl-cyanoacrylate (NBCA) for arteriovenous malformation (AVM) is now a daily practice over the world, but there exists no objective data that can be a basis for discussion or decision-making on the best concentration and injection rate of NBCA mixture. The purpose of this study was to obtain objective data on control and behavior of NBCA mixture with an in vitro simulation system of NBCA embolization for AVM. A nidus model made of a one-ml syringe filled with small beads was connected to a pulsatile flow circuit. A microcatheter was introduced just before the nidus model. Endoluminal pressures proximal and distal to the nidus and flow volume through the nidus were measured. Digital subtraction angiography (DSA) was performed to calculate transit time of the contrast medium (CM) through the nidus. NBCA was injected at various rates with an autoinjector and transit time of NBCA through the nidus was calculated. 27 trials were completed. Transit time of CM through the nidus model is well correlated to flow volume per unit of time through the nidus model. Shorter the transit time, larger was the flow volume per unit of time. The correlation was statistically significant (P < .0001). Though statistical significance was not attained, transit time of NBCA mixture at 50% concentration had a tendency to be correlated to flow volume per unit of time through the nidus, and slower injection of the NBCA mixture led to slower filling of the nidus model. Though this simulation system was artificial and the results should be interpreted carefully, it was shown with this system that transit time of CM through the nidus could be a good index for flow volume per unit of time through the nidus. Also suggested was a possibility to utilize this in vitro system for research and training on NBCA embolization of AVM. PMID:20591314

  3. Dynamic contrast-enhanced MRI evaluation of cerebral cavernous malformations.

    PubMed

    Hart, Blaine L; Taheri, Saeid; Rosenberg, Gary A; Morrison, Leslie A

    2013-10-01

    The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22-76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E-6 to 9.63E-4 min(-1), mean 3.55E-4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E-4, not statistically different from mean WM Ki of 1.47E-4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

  4. Dynamic Contrast-Enhanced MRI Evaluation of Cerebral Cavernous Malformations

    PubMed Central

    Hart, B. L.; Taheri, S.; Rosenberg, G. A.; Morrison, L. A.

    2013-01-01

    The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22–76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E–6 to 9.63E–4 min?1, mean 3.55E–4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E–4, not statistically different from mean WM Ki of 1.47E–4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

  5. How Airway Venous Malformations Differ From Airway Infantile Hemangiomas

    PubMed Central

    Parhizkar, Nooshin; Manning, Scott C.; Inglis, Andrew F.; Finn, Laura S.; Chen, Eunice Y.; Perkins, Jonathan A.

    2013-01-01

    Objective To compare airway infantile hemangiomas (IHs) and venous malformations (VMs) clinically, radiographically, endoscopically, and histologically. Design Retrospective cohort study. Setting Tertiary care pediatric hospital. Patients The study included patients seen in the Vascular Anomaly Clinic, Seattle Children’s Hospital, Seattle, Washington, between 2001 and 2008. Methods All patients with airway vascular anomalies were identified by searching the Vascular Anomaly Quality Improvement Database and hospital discharge data. The data, which were analyzed with descriptive statistics and the Fisher exact test, included presenting age, sex, presenting signs, lesion site, and radiographic, endoscopic, and histologic findings.. Results Seventeen patients with airway lesions were identified, 6 with VMs and 11 with IHs. Patients with VMs presented at a mean (SD) age of 11.3 (13.7) months (age range, 3–39 months), while those with IHs presented at 3 (1.8) months of age (age range, 1–6 months) (P =.03). The patients with IHs were predominantly female (9 of 11 [81%]), while no sex difference was noted among the patients with VMs (3 of 6 [50%]). All patients with IHs presented with stridor and cutaneous lesions, whereas patients with VMs more often presented with hemoptysis or dysphagia (P = .001). Computed tomographic angiograms demonstrated enhancing endolaryngeal lesions in all IHs, while VMs enhanced poorly. Endoscopically, IHs were transglottic, while VMs were postcricoid or epiglottic (P <.001). Histologically, immunostained lesions showed submucosal lobules of capillaries lined by GLUT-1 (glucose transporter isoform 1)–positive endothelium in IHs, whereas VMs consisted of loosely organized venous channels that lacked GLUT-1 staining. Conclusion Patients with airway IHs and VMs differ in presenting age and signs, sex, airway lesion location, enhancement on computed tomographic angiograms, and histologic appearance. PMID:21242531

  6. Enrichment and Training Improve Cognition in Rats with Cortical Malformations

    PubMed Central

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

    2013-01-01

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

  7. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    PubMed Central

    Moraes, Paulo L.; Dias, Rodrigo S.; Weltman, Eduardo; Giordani, Adelmo J.; Benabou, Salomon; Segreto, Helena R. C.; Segreto, Roberto A.

    2015-01-01

    Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC) for brain arteriovenous malformations (AVM). Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler–Martin grading system, location, volume, modified Pollock–Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose–volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood–brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation.

  8. Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations

    PubMed Central

    2014-01-01

    Background Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thoracic vertebral malformations as well as thoracic limb malformations resembling KFS with a concurrent type IV dermoid sinus. Case presentation A 1.5 year-old Dachshund with congenital thoracic limbs deformities and cervical-thoracic vertebral malformations presented with cervical hyperesthesia, rigidity of the cervical musculature and tetraparesis. Neurologic, radiographic, and computed tomography (CT) (2D, 3D, CT fistulography) examinations revealed skeletal anomalies, a dermoid sinus in the cranial thoracic region and epidural gas within the vertebral canal. Surgical resection and histopathological evaluation of the sinus tract were performed and confirmed a type IV dermoid sinus. The clinical signs progressively recovered postoperatively, and no recurrent signs were observed after 6 months of follow-up. Conclusions Cervical vertebral malformations associated with limbs anomalies have not been reported in dogs and may represent a condition similar to KFS in humans. KFS can occur concurrently with other congenital conditions including dermoid sinus and should be included among the complex congenital anomalies described in dogs. PMID:24593884

  9. When hormone defects cannot explain it: malformative disorders of sex development.

    PubMed

    Grinspon, Romina P; Rey, Rodolfo A

    2014-12-01

    The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed. PMID:25472912

  10. Impaired cerebral vasoreactivity after embolization of arteriovenous malformations: assessment with serial acetazolamide challenge xenon CT

    SciTech Connect

    Tarr, R.W.; Johnson, D.W.; Horton, J.A.; Yonas, H.; Pentheny, S.; Durham, S.; Jungreis, C.A.; Hecht, S.T. (Presbyterian-Univ. Hospital, Pittsburgh, PA (USA))

    1991-05-01

    Embolization of a portion of the nidus of an arteriovenous malformation not only may alter hemodynamics within the nidus, but also may change blood flow dynamics in adjacent normal vessels. Sequential acetazolamide-challenge xenon CT cerebral blood flow studies were performed in eight patients before and after embolization of arteriovenous malformations to assess the hemodynamic effects on the major vascular territories supplying the malformation. Acetazolamide is a potent cerebral vasodilator, and its administration combined with cerebral blood flow studies allows assessment of cerebral vasoreactivity. In seven of the eight patients, one or more parenchymal areas exhibited a normal cerebral blood flow augmentation response to acetazolamide before embolization, but diminished acetazolamide flow augmentation was seen after embolization, indicating abnormal vasoreactivity. We found that the decrease in vasoreactivity peaked 6-10 days after embolization. In one of the eight patients, a temporary delayed neurologic deficit developed during a period of impaired cerebral vasoreactivity following embolization. Our results suggest that embolization of an arteriovenous malformation can induce vasoreactivity changes in adjacent normal vessels. Because these changes appear to be somewhat time-dependent, an appropriate interval should be observed between embolization stages or before surgical resection of an arteriovenous malformation following embolization to allow hemodynamic equilibration to occur. Acetazolamide challenge combined with serial cerebral blood flow studies following embolization enables determination of this hemodynamic equilibration.

  11. Long-Term Follow-up After Embolization of Pulmonary Arteriovenous Malformations with Detachable Silicone Balloons

    SciTech Connect

    Andersen, Poul Erik [Odense University Hospital, Department of Radiology (Denmark)], E-mail: anders1@dadlnet.dk; Kjeldsen, Anette D. [Odense University Hospital, Department of Otorhinolaryngology (Denmark)

    2008-05-15

    Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenous malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations.

  12. A fuzzy system for helping medical diagnosis of malformations of cortical development.

    PubMed

    Alayón, Silvia; Robertson, Richard; Warfield, Simon K; Ruiz-Alzola, Juan

    2007-06-01

    Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper. PMID:17197247

  13. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    PubMed

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

    2014-10-01

    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly. PMID:25318893

  14. Adding infection to injury: synergistic effects of predation and parasitism on amphibian malformations.

    PubMed

    Johnson, Pieter T J; Preu, Eric R; Sutherland, Daniel R; Romansic, John M; Han, Barbara; Blaustein, Andrew R

    2006-09-01

    We explored the importance of interactions between parasite infection and predation in driving an emerging phenomenon of conservation importance: amphibian limb malformations. We suggest that injury resulting from intraspecific predation in combination with trematode infection contributes to the frequency and severity of malformations in salamanders. By integrating field surveys and experiments, we evaluated the individual and combined effects of conspecific attack and parasite (Ribeiroia ondatrae) infection on limb development of long-toed salamanders (Ambystoma macrodactylum). In the absence of Ribeiroia, abnormalities involved missing digits, feet, or limbs and were similar to those produced by cannibalistic attack in experimental trials. At field sites that supported Ribeiroia, malformations were dominated by extra limbs and digits. Correspondingly, laboratory exposure of larval salamanders to Ribeiroia cercariae over a 30-day period induced high frequencies of malformations, including extra digits, extra limbs, cutaneous fusion, and micromelia. However, salamander limbs exposed to both injury and infection exhibited 3-5 times more abnormalities than those exposed to either factor alone. Infection also caused significant delays in limb regeneration and time-to-metamorphosis. Taken together, these results help to explain malformation patterns observed in natural salamander populations while emphasizing the importance of interactions between parasitism and predation in driving disease. PMID:16995623

  15. Evidence for split attentional foci.

    PubMed

    Awh, E; Pashler, H

    2000-04-01

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

  16. Dephasing in coherently split quasicondensates

    SciTech Connect

    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

    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.

  17. Dark matter from split seesaw

    NASA Astrophysics Data System (ADS)

    Kusenko, Alexander; Takahashi, Fuminobu; Yanagida, Tsutomu T.

    2010-09-01

    The seesaw mechanism in models with extra dimensions is shown to be generically consistent with a broad range of Majorana masses. The resulting democracy of scales implies that the seesaw mechanism can naturally explain the smallness of neutrino masses for an arbitrarily small right-handed neutrino mass. If the scales of the seesaw parameters are split, with two right-handed neutrinos at a high scale and one at a keV scale, one can explain the matter-antimatter asymmetry of the universe, as well as dark matter. The dark matter candidate, a sterile right-handed neutrino with mass of several keV, can account for the observed pulsar velocities and for the recent data from Chandra X-ray Observatory, which suggest the existence of a 5 keV sterile right-handed neutrino.

  18. ISODATA: Thresholds for splitting clusters

    NASA Technical Reports Server (NTRS)

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

    1972-01-01

    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.

  19. Salt splitting using ceramic membranes

    SciTech Connect

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

    1997-10-01

    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.

  20. Subcutaneous Tri-Block Copolymer Produces Recovery From Spinal Cord Injury

    E-print Network

    Duerstock, Bradley

    Subcutaneous Tri-Block Copolymer Produces Recovery From Spinal Cord Injury Richard B. Borgens,1 compression of the adult guinea pig spinal cord is able to: (1) preserve the anatomic integrity of the cord a behavioral recov- ery of a spinal cord dependent long tract spinal cord reflex. These observations stood out

  1. SplitDist—Calculating Split-Distances for Sets of Trees

    Microsoft Academic Search

    Thomas Mailund

    Summary: We present a tool for comparing a set of input trees, calculating for each pair of trees the split-distances, i.e., the number of splits in one tree not present in the other. Availability: The source code for SplitDist is available under the GNU Public License (GPL) from http:\\/\\/www.daimi.au.dk\\/~mailund\\/

  2. Adaptive split test for multivariate time series classification trees Adaptive split test for multivariate time series

    E-print Network

    Paris-Sud XI, Université de

    Adaptive split test for multivariate time series classification trees Adaptive split test for multivariate time series classification trees Ahlame Douzal Chouakria1 , Cécile Amblard1 LIG (Lab. d : This paper proposes an extension of the classification trees to time series input variables. A new split

  3. Knowledge about umbilical cord blood banking among Greek citizens

    PubMed Central

    Karagiorgou, Louiza Z.; Pantazopoulou, Maria-Nikoletta P.; Mainas, Nikolaos C.; Beloukas, Apostolos I.; Kriebardis, Anastasios G.

    2014-01-01

    Background Umbilical cord blood supplies in Greece are not sufficient to meet the high transfusion needs. This study was designed to determine Greeks’ opinion about umbilical cord blood, identify the reasons for the lack of motivation to donate umbilical cord blood and allow experts to establish better recruitment campaigns to enrich the donor pool. Materials and methods The attitudes and knowledge about umbilical cord blood of randomly selected Greek citizens (n=1,019) were assessed by means of a standardised anonymous questionnaire. The results were analysed using the ?2test and Spearman’s correlation coefficient. Results Forty-eight percent of respondents knew about umbilical cord blood and had full knowledge about what storage/donation offers. Media (35%) and doctors (25%) were the main source of information. The information from the state was considered either inadequate or non-existent by 85% of the responders. Ninety-five percent of the people questioned would like further information regarding umbilical cord blood transplantation and umbilical cord blood storage/donation. Six percent of the respondents who had children and were in favour of umbilical cord blood transplantation, had stored/donated UCB. With regards to future decisions, 84% of the sample would store/donate umbilical cord blood, of whom 57% would keep the umbilical cord blood in a private bank. Discussion It was concluded that Greek citizens receive information about umbilical cord blood from both the state and advertising campaigns by the Ministry of Health and Social Solidarity. A kind of cooperation between all hospitals and public umbilical cord blood banks would be advisable in order to facilitate access to umbilical cord blood donations. PMID:24120604

  4. Gene therapy approaches for spinal cord injury

    NASA Astrophysics Data System (ADS)

    Bright, Corinne

    As the biomedical engineering field expands, combination technologies are demonstrating enormous potential for treating human disease. In particular, intersections between the rapidly developing fields of gene therapy and tissue engineering hold promise to achieve tissue regeneration. Nonviral gene therapy uses plasmid DNA to deliver therapeutic proteins in vivo for extended periods of time. Tissue engineering employs biomedical materials, such as polymers, to support the regrowth of injured tissue. In this thesis, a combination strategy to deliver genes and drugs in a polymeric scaffold was applied to a spinal cord injury model. In order to develop a platform technology to treat spinal cord injury, several nonviral gene delivery systems and polymeric scaffolds were evaluated in vitro and in vivo. Nonviral vector trafficking was evaluated in primary neuronal culture to develop an understanding of the barriers to gene transfer in neurons and their supporting glia. Although the most efficient gene carrier in vitro differed from the optimal gene carrier in vivo, confocal and electron microscopy of these nonviral vectors provided insights into the interaction of these vectors with the nucleus. A novel pathway for delivering nanoparticles into the nuclei of neurons and Schwann cells via vesicle trafficking was observed in this study. Reporter gene expression levels were evaluated after direct and remote delivery to the spinal cord, and the optimal nonviral vector, dose, and delivery strategy were applied to deliver the gene encoding the basic fibroblast growth factor (bFGF) to the spinal cord. An injectable and biocompatible gel, composed of the amphiphillic polymer poly(ethylene glycol)-poly(epsilon-caprolactone)-poly(ethylene glycol) (PEG-PCL-PEG) was evaluated as a drug and gene delivery system in vitro, and combined with the optimized nonviral gene delivery system to treat spinal cord injury. Plasmid DNA encoding the bFGF gene and the therapeutic NEP1--40 peptide were incorporated in the PEG-PCL-PEG gel and injected into a lesion transecting the main dorsomedial and minor ventral medial corticospinal tract (CST). The degree of collateralization of the transected CST was quantified as an indicator of the regenerative potential of these treatments. At one month post-injury, we observed the robust rostral collateralization of the CST tract in response to the bFGF plasmid-loaded gel. In conclusion, we hope that this platform technology can be applied to the sustained local delivery of other proteins for the treatment of spinal cord injury.

  5. Relationship between Spinal Cord Volume and Spinal Cord Injury due to Spinal Shortening.

    PubMed

    Qiu, Feng; Yang, Jin-Cheng; Ma, Xiang-Yang; Xu, Jun-Jie; Yang, Qing-Lei; Zhou, Xin; Xiao, Yao-Sheng; Hu, Hai-Sheng; Xia, Li-Hui

    2015-01-01

    Vertebral column resection is associated with a risk of spinal cord injury. In the present study, using a goat model, we aimed to investigate the relationship between changes in spinal cord volume and spinal cord injury due to spinal shortening, and to quantify the spinal cord volume per 1-mm height in order to clarify a safe limit for shortening. Vertebral column resection was performed at T10 in 10 goats. The spinal cord was shortened until the somatosensory-evoked potential was decreased by 50% from the baseline amplitude or delayed by 10% relative to the baseline peak latency. A wake-up test was performed, and the goats were observed for two days postoperatively. Magnetic resonance imaging was used to measure the spinal cord volume, T10 height, disc height, osteotomy segment height, and spinal segment height pre- and postoperatively. Two of the 10 goats were excluded, and hence, only data from eight goats were analyzed. The somatosensory-evoked potential of these eight goats demonstrated meaningful changes. With regard to neurologic function, five and three goats were classified as Tarlov grades 5 and 4 at two days postoperatively. The mean shortening distance was 23.6 ± 1.51 mm, which correlated with the d-value (post-pre) of the spinal cord volume per 1-mm height of the osteotomy segment (r = 0.95, p < 0.001) and with the height of the T10 body (r = 0.79, p = 0.02). The mean d-value (post-pre) of the spinal cord volume per 1-mm height of the osteotomy segment was 142.87 ± 0.59 mm3 (range, 142.19-143.67 mm3). The limit for shortening was approximately 106% of the vertebral height. The mean volumes of the osteotomy and spinal segments did not significantly change after surgery (t = 0.310, p = 0.765 and t = 1.241, p = 0.255, respectively). Thus, our results indicate that the safe limit for shortening can be calculated using the change in spinal cord volume per 1-mm height. PMID:26001196

  6. Instead of splitting the atom --the

    E-print Network

    Instead of splitting the atom - - the principle behind the 1940s Manhattan Project that build of the Sun and the stars. BACK STAR POWER: ITER, BOLDEST NUCLEAR INITIATIVE SINCE MANHATTAN PROJECT Received infinite. Instead of splitting the atom -- the principle behind the 1940s Manhattan Project that build

  7. Paradoxical Interhemispheric Summation in the Split Brain

    E-print Network

    Corballis, Paul M.

    Paradoxical Interhemispheric Summation in the Split Brain Michael C. Corballis1 , Jeff P. Hamm1 with agenesis of the corpus callosum, and 17 normal subjects. The three split- brained subjects' RTs were with a simple race model, in which the two targets set up a race for the control of response and the faster

  8. The Split Delivery Capacitated Team Orienteering Problem

    E-print Network

    Hertz, Alain

    The Split Delivery Capacitated Team Orienteering Problem C. Archetti(1) N. Bianchessi(1) A. Hertz(2.hertz@gerad.ca October 5, 2010 Abstract In this paper we study the capacitated team orienteering problem where split deliveries are allowed. A set of potential customers is given, each associated with a demand and a profit

  9. Shear wave splitting and subcontinental mantle deformation

    Microsoft Academic Search

    Paul G. Silver; W. Winston Chan

    1991-01-01

    We have made measurements of shear wave splitting in the phases SKS and SKKS at 21 broadband stations in North America, South America, Europe, Asia, and Africa. Measurements are made using a retrieval scheme that yields the azimuth of the fast polarization direction varphi and delay time deltat of the split shear wave plus uncertainties. Detectable anisotropy was found at

  10. Parallel programming in Split-C

    Microsoft Academic Search

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

    1993-01-01

    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

  11. Explicit split-step propagating beam method

    Microsoft Academic Search

    J. N. McMullin

    1994-01-01

    A general method is presented for converting implicit split-step finite-difference propagating beam equations to explicit equations. Higher-order difference approximations can be used for greater accuracy with only minor speed penalties. For the same accuracy, the explicit solutions are often faster than the implicit solutions as well as the standard split-step fast Fourier transform method

  12. Explicit split-step propagating beam method

    Microsoft Academic Search

    J. N. McMullin

    1994-01-01

    A general method is presented for converting implicit split-step finite-difference propagating beam equations to explicit equations. Higher-order difference approximations can be used for greater accuracy with only minor speed penalties. For the same accuracy, the explicit solutions are often faster than the implicit solutions as well as the standard split-step fast Fourier transform method.

  13. 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...

  14. Ideological Ambiguity and Split Ticket Voting

    Microsoft Academic Search

    Jeffrey A. Karp; M. W. Garland

    2007-01-01

    Recent research on congressional elections suggests that voters are more likely to split their votes in ideologically extreme districts. The authors suggest that in this type of context, uncertainty about candidate position rather than clarity explains the occurrence of ticket splitting. Using data from a rolling cross-section campaign survey where two incumbents competed in an overwhelmingly conservative district, the authors

  15. Effective branching splitting method under cost contraint

    E-print Network

    Lagnoux, Agnès

    Effective branching splitting method under cost contraint Agn`es Lagnoux-Renaudie Laboratoire de at various stages during the simulation. Given the cost, the optimization of the algorithm suggests to sample between P(A) and its estimator. Key words: splitting method, simulation, cost function, Laplace transform

  16. Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait.

    PubMed

    Madi, S A; Al-Naggar, R L; Al-Awadi, S A; Bastaki, L A

    2005-07-01

    We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations (12.5/1000 births): 49 (50.6%) babies had multiple system malformations, while 48 (49.4%) had single system anomalies. Of the 49 babies with multiple malformations, 21 (42.8%) had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system (12 cases), cardiovascular system (9 cases), skeletal system (7 cases) and gastrointestinal system (6 cases). Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders. PMID:16700386

  17. Surgical management of cavernous malformation of the optic nerve with canalicular extension

    PubMed Central

    Gonçalves, Vítor M.; Gonçalves, Victor

    2014-01-01

    Background: Cavernous malformations arising in a single optic nerves paring the chiasm (intracranial prechiasmatic optic nerve) and expanding into the optic canal are extremely rare lesions. Published series or case reports regarding the surgical removal of these vascular malformations within this specific location are scarce. Case Description: We present the first case to be published, of an intracranial optic nerve cavernous malformation with a contiguous canalicular component that was totally and successfully removed through a microsurgical pterional approach with excellent clinical outcome. Conclusion: This pathology should always be considered in the differential diagnosis of optic neuropathy and visual loss. Early detection and surgical proposal are mandatory, warranting the prevention of permanent damage to visual pathways. Radical resection is challenging, but usually curative and associated with favorable visual outcomes. PMID:25422788

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

    PubMed Central

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

    2014-01-01

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

  19. Intra-operative sclerotherapy for treatment of a head and neck venous malformation.

    PubMed

    Kourelis, K; Johnson, P; Girod, D

    2015-02-01

    Venous malformations of the head and neck are congenital lesions that grow steadily without spontaneous regression. We describe the management of a 47-year-old woman with an extensive subcutaneous venous malformation of bilateral submandibular regions and the entire tongue, refractory to multiple surgical excisions and percutaneous sclerotherapy sessions. The tumour lacked prominent feeding arteries for embolisation, but maintained high blood outflow via a few substantial venous branches. Sclerotherapy to the lesion was prevented by major communicating branches from the mass to the internal jugular vein bilaterally. Our approach entailed direct surgical access to the malformation, ligation of these communicating veins and intraoperative sclerotherapy with ethanol injection into the vessel stumps. PMID:26015655

  20. Effect of resection of an orbital arteriovenous malformation on central venous pressure

    PubMed Central

    Gilliland, Grant; Hise, Joseph; Thacker, Ike; Layton, Kennith F.

    2015-01-01

    We report the first utilization of intraoperative central venous pressure (CVP) monitoring in the resection of an orbital arteriovenous malformation. A 24-year-old woman with a history of a left orbital mass who had previously undergone resection of a cranio-orbital arteriovenous malformation presented with gradual recurrence in the left orbit. She visited the emergency department with sudden vision loss, which resolved over several hours. This transient vision loss was thought to be due to a steal phenomenon from the ophthalmic artery due to the residual vascular malformation. Further surgical resection was undertaken. A preoperative angiogram identified residual feeding vessels, and the larger vessels were embolized. At the start of the procedure, her CVP was elevated (29 mm Hg), as measured by a central venous line. The remaining feeding vessels were surgically ligated, and an intraoperative arteriogram confirmed their successful ablation. At the conclusion of the procedure, the CVP had decreased to 9 mm Hg. PMID:25829648