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1

Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.  

PubMed

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of the congenital heart disease, urogenital malformation, skeletal anomalies and neural tube defects. We present a patient with spondylocostal dysostosis, who also had type I split cord malformation, tethered cord, scoliosis and double nipple on the right. Although the association of spondylocostal dysostosis and type I split cord malformation is very rare, double nipples on one side is no previously reported. PMID:23546915

Yilmaz, Muhammet Bahad?r; Kaymak, Aysegul; Kurt, Gokhan; Percin, Ferda Emriye; Baykaner, Kemali

2013-01-01

2

Staged corrective surgery for complex congenital scoliosis and split cord malformation  

PubMed Central

Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done. PMID:19626347

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

2009-01-01

3

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

PubMed Central

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

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

2015-01-01

4

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

PubMed Central

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

Srinivas, Hanuma; Kumar, Ashish

2014-01-01

5

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

PubMed Central

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

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

2014-01-01

6

Spinal cord malformations.  

PubMed

Malformations of the spinal cord are one of the most frequent malformations. They should be clearly divided into two completely different families of malformations: open dysraphisms and occult dysraphisms. Open dysraphism mostly consists in myelomeningocele (MMC). Its incidence is 1/1000 live births with a wide variation. Folic acid supplementation has been shown to reduce its risk. In most cases, the diagnosis is done prenatally by serum screening and ultrasound and may lead to termination of pregnancy. In case of decision to continue pregnancy, surgical treatment must be achieved during the first days of life, and in 50 to 90% of cases, a ventricular shunt must be installed. The follow-up of these children must be continued throughout life looking for late complications (Chiari II and syringomyelia, vertebral problems, neuropathic bladder, tethered cord). Occult dysraphisms are a heterogeneous group of malformations. Lipomas (filum and conus) are the most frequent and their treatment remains controversial. Diastematomyelia, neurenteric cysts, dermal sinus, and more complex forms (Currarino syndrome) belong to this group. Most of them can and must be diagnosed prenatally or at birth by careful examination of the lower back for the cutaneous stigmata of the disease to decrease the risk of neurological, urological, or orthopedic permanent handicap. PMID:23622306

Zerah, Michel; Kulkarni, Abhaya V

2013-01-01

7

Multifocal and Metameric Spinal Cord Arteriovenous Malformations  

PubMed Central

Summary We describe 19 (16.0%) multiple vascular malformations (AVMs) in 119 spinal cord arteriovenous malformations (SCAVMs). The associated lesions were eight vertebral vascular malformations, two cutaneous, four limbs, four radicular AVMs, three bifocal SCAVMs; one patient had a bifocal cord lesion associated with vertebral and limb localisations. Various syndromic associations were seen: nine Cobb, two Klippel-Trenaunay-Weber, one Parkes Weber. An additional subgroup of unclassified associations is constituted by seven cases with bifocal intradural uni or multimetameric lesions. In our SCAVMs series, the incidence of multiple vascular lesions is high, in particular multifocal intradural malformations. Metameric distribution is the most frequent type of multiplicity. Identification of the myelomeric level involved in SCAVM allows segmental link between various lesions of mesodermal or neural crest origin to be discussed. PMID:20670488

Matsumaru, Y.; Pongpech, S.; Laothamas, J.; Alvarez, H.; Rodesch, G.; Lasjaunias, P.

1999-01-01

8

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

SciTech Connect

Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-D7S553-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF. The authors propose the name SHSF2 for this second locus. 34 refs., 4 figs., 1 tab.

Palmer, S.E.; Wijsman, E.M.; Stephens, K.; Evans, J.P. (Univ. of Washington School of Medicine, Seattle, WA (United States)); Scherer, S.W.; Tsui, L.C. (Univ. of Toronto (Canada)); Kukolich, M. (Genetic Screening and Counseling Service, Denton, TX (United States))

1994-07-01

9

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

PubMed Central

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

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

2014-01-01

10

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

PubMed

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

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

2011-12-01

11

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.  

PubMed

Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM. PMID:12974740

Basel, D; DePaepe, A; Kilpatrick, M W; Tsipouras, P

2003-10-01

12

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

Microsoft Academic Search

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

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

1999-01-01

13

Dura splitting decompression in Chiari type 1 malformation: clinical experience and radiological findings.  

PubMed

To restore the cerebrospinal fluid (CSF) flow at the craniocervical junction in Chiari I malformation (CM-I), most surgeons practice a suboccipital craniectomy with duraplasty. To reduce the risk of CSF leak, a dura splitting decompression is created removing only the dural outer layer. We report on a series of 11 patients with CM-I (five with syringomyelia) operated on between 2000 and 2007 using this technique. Neurological examination and cerebro-spinal MRI scan were performed before and after surgery. Symptoms improved completely in six patients. Headaches and cervicalgias disappeared for all patients. Dizziness and paresthesia in the upper limb remained unchanged for three and two patients, respectively. We observed no complications such as CSF leak, meningocele, or meningitis. Postoperative MRI scan showed a significant craniocervical decompression in ten patients. Four patients had a new cisterna magna. Two syringomyelias completely disappeared, two decreased, and one was stable. Dural splitting can be practiced to treat CM-I. Clinical results are similar to the other techniques with less complications. Radiological findings show satisfying posterior fossa decompression. PMID:19644715

Chauvet, Dorian; Carpentier, Alexandre; George, Bernard

2009-10-01

14

17p13.3 microduplications are associated with split-hand\\/foot malformation and long-bone deficiency (SHFLD)  

Microsoft Academic Search

Split-hand\\/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identified, the molecular basis and pathogenesis of most SHFLD cases are unknown. In this study we describe three unrelated kindreds, in which SHFLD segregated with distinct but overlapping duplications in 17p13.3, a

Christine M Armour; Dennis E Bulman; Olga Jarinova; Richard Curtis Rogers; Kate B Clarkson; Barbara R DuPont; Alka Dwivedi; Frank O Bartel; Laura McDonell; Charles E Schwartz; Kym M Boycott; David B Everman; Gail E Graham

2011-01-01

15

Histological and biomechanical study of dura mater applied to the technique of dura splitting decompression in Chiari type I malformation  

Microsoft Academic Search

Many techniques are described to treat Chiari type I malformation. One of them is a splitting of the dura, removing its outer\\u000a layer only to reduce the risks of cerebrospinal fluid (CSF) leak. We try to show the effectiveness of this technique from\\u000a histological and biomechanical observations of dura mater. Study was performed on 25 posterior fossa dura mater specimens

Dorian Chauvet; Alexandre Carpentier; Jean-Marc Allain; Marc Polivka; Jérôme Crépin; Bernard George

2010-01-01

16

Histological and biomechanical study of dura mater applied to the technique of dura splitting decompression in Chiari type I malformation.  

PubMed

Many techniques are described to treat Chiari type I malformation. One of them is a splitting of the dura, removing its outer layer only to reduce the risks of cerebrospinal fluid (CSF) leak. We try to show the effectiveness of this technique from histological and biomechanical observations of dura mater. Study was performed on 25 posterior fossa dura mater specimens from fresh human cadavers. Dural composition and architecture was assessed on 47 transversal and sagittal sections. Uniaxial mechanical tests were performed on 22 dural samples (15 entire, 7 split) to focus on the dural macroscopic mechanical behavior comparing entire and split samples and also to understand deformation mechanisms. We finally created a model of volume expansion after splitting. Dura mater was composed of predominant collagen fibers with a few elastin fibers, cranio-caudally orientated. The classical description of two distinct layers remained inconstant. Biomechanical tests showed a significant difference between entire dura, which presents an elastic fragile behavior, with a small domain where deformation is reversible with stress, and split dura, which presents an elasto-plastic behavior with a large domain of permanent strain and a lower stress level. From these experimental results, the model showed a volume increase of approximately 50% below the split area. We demonstrated the capability of the split dura mater to enlarge for suitable stress conditions and we quantified it by biomechanical tests and experimental model. Thus, dural splitting decompression seems to have a real biomechanical substrate to envision the efficacy of this Chiari type I malformation surgical technique. PMID:20440557

Chauvet, Dorian; Carpentier, Alexandre; Allain, Jean-Marc; Polivka, Marc; Crépin, Jérôme; George, Bernard

2010-07-01

17

A Sacral Mass in a Newborn: A Variant of Type II Diastematomyelia with Triple Splitting of the Cord  

PubMed Central

Ultrasonographic (US) evaluation of spinal anomalies is limited. MRI is increasingly being used in the diagnosis of spinal anomalies. MRI has been able to show clearly the detailed anatomy of this rare case of type II diastematomyelia with triple splitting of the cord. PMID:23738178

Shatla, Emad Sadek; Bedair, El Said M. A.; Soliman, Ashraf

2013-01-01

18

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

PubMed

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

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

2014-11-13

19

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

PubMed Central

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

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

2014-01-01

20

Amphibian malformations  

USGS Publications Warehouse

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

National Wildlife Health Center

1998-01-01

21

A novel locus for split-hand\\/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3  

Microsoft Academic Search

Split-hand\\/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly\\u000a syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about\\u000a 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome\\u000a genes: 1q42.2–q43, 6q14.1 and 2q14.2. We characterized the phenotype

Karina Lezirovitz; Sylvia Regina Pedrosa Maestrelli; Nelson Henderson Cotrim; Paulo A. Otto; Peter L. Pearson; Regina Celia Mingroni-Netto

2008-01-01

22

Anorectal malformations  

Microsoft Academic Search

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,

Marc A Levitt; Alberto Peña

2007-01-01

23

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Center., Northern P.

1997-01-01

24

Anorectal malformations.  

PubMed

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

25

Anorectal malformations  

PubMed Central

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

26

Arteriovenous Malformations and Other Vascular Malformation Syndromes  

PubMed Central

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation–arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations. PMID:23125071

Whitehead, Kevin J.; Smith, Matthew C. P.; Li, Dean Y.

2013-01-01

27

Cervical spine arterio venous malformation  

PubMed Central

We present an unusual case of a young patient who presented to our emergency department with a history of sudden onset of pain on the left side of the neck and numbness to the left arm after lifting a small weight. Patient continued to work as normal for approximately 30?min after the event and then attended the emergency department as numbness in the left arm was not resolving. On examination there was no sensorymotor deficit in the lower limbs but neurological deficits were found in the upper limbs which made us suspect a diagnosis of cervical spine injury/brachial plexus. The patient then rapidly developed numbness in both upper and lower limbs and eventually became aphasic and developed a rapid, shallow respiration and was unable to maintain the airway. The patient was then intubated and ventilated. The patient was then transferred to a neurosurgical centre after the relevant investigations was found to have an arteriovenous malformation of spinal cord. PMID:23349172

Parla, Giridhar; Ameh, Victor

2013-01-01

28

The upper airway: congenital malformations.  

PubMed

The upper airway extends from the nasal aperture to the subglottis and can be the site of multiple types of congenital malformations leading to anatomical or functional obstruction. This can cause severe respiratory distress. Newborns are obligate nasal breathers; therefore nasal obstruction can lead to airway compromise and respiratory distress. The etiologies are varied and include, choanal atresia, pyriform aperture stenosis, and rarely tumors such as glioma, encephalocele, teratoma, or dermoid. More common upper airway congenital anomalies include laryngomalacia, vocal cord paralysis, and subglottic stenosis. Laryngolmalacia is the most common congenital laryngeal anomaly. Inspiratory stridor often does not present until two weeks after birth and resolves by 18 months of age. Most cases are managed with watchful waiting. Severe cases require a surgical intervention. Bilateral vocal cord paralysis is usually idiopathic. In certain cases, paralysis may occur secondary to central nervous system abnormality including Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, or hypoxia. Severe cases may necessitate endotracheal intubation and tracheostomy. Congenital subglottic stenosis is the third most common laryngeal anomaly. It is defined as a diameter of less than 4mm of the cricoid region in a full-term infant, and less than 3mm in a premature infant. This condition is the most common laryngeal anomaly that requires tracheotomy in newborns. Laryngotracheoplasty may be required to achieve decanulation. Knowledge of the upper airway embryological development and congenital anomalies is off prime importance in assessing the newborn with respiratory distress. In most cases flexible endoscopy establishes the diagnosis. Management is tailored to each condition and its degree of severity. PMID:16798587

Daniel, Samuel J

2006-01-01

29

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

PubMed

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

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

1992-02-01

30

MALFORMATIONS, MALFORMATIONS EVERYWHERE ... Prepared by Juan Swanepoel & Marieka Gryzenhout  

E-print Network

afflicted by malformation symptoms are commercial pistachio in Iran and the South African native tree karee. Malformations of pistachio are found to be caused by a phytoplasma, but the causal agent for karee is still to the same foe as its relatives mango and pistachio ­ malformations (Fig. 1a, b). #12;20 Fig. 1 Malformations

31

Radiation-Induced Spinal Cord Hemorrhage (Hematomyelia)  

PubMed Central

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

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

2014-01-01

32

Posterior fossa malformations.  

PubMed

Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy-Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations. PMID:21596278

Shekdar, Karuna

2011-06-01

33

Congenital Hepatic Vascular Malformations  

Microsoft Academic Search

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

Guadalupe Garcia-Tsao

34

Fetal bronchopulmonary malformations.  

PubMed

Abstract Introduction: Fetal body tumors are rare, but the ability to diagnose them has improved over recent years. Most masses discovered in the chest results from fetal bronchopulmonary malformations, such as congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Congenital cystic adenomatoid malformation and bronchopulmonary sequestration have a reported incidence of 50% and 33% of all prenatally diagnosed lung lesions, respectively. Material and methods: Retrospective analysis of the congenital cystic adenomatoid malformation and bronchopulmonary sequestration cases diagnosed or surveilled at our department, between January 2003 and March 2013. Prenatal examination, evolution, management and patient outcome were analyzed. Results: A total of 918 fetal malformations were diagnosed at our hospital, 17 of them representing fetal bronchopulmonary malformations. The majority were diagnosed during the second trimester and stabilized or regressed during the third trimester of pregnancy. The pregnancies and deliveries had no other relevant findings or complications, except in three cases. Nine children required surgery. All of the children are healthy and have a normal development, with regular surveillance by the pediatricians. Discussion: The majority of these fetal lung masses are isolated findings that partially regress during intrauterine life. With adequate postnatal surveillance and eventual surgery the prognosis is good. PMID:25394612

Nunes, Carla; Pereira, Isabel; Araújo, Cláudia; Santo, Susana Ferreira; Carvalho, Rui Marques; Melo, Antonieta; Graça, Luís Mendes

2014-12-01

35

Cavernous malformations in pregnancy.  

PubMed

Cavernous malformation is a relatively rare disease, but is important in the etiology of cerebral hemorrhage in pregnant and puerperal women. The risk of bleeding is particularly high in patients with a previous history of bleeding, patients with a family history of cavernous malformations, and patients with the causative cerebral cavernous malformation gene. Cavernous malformations are more likely to bleed or to increase in size during pregnancy, under the influence of female hormones and vascular growth factors such as vascular endothelial growth factor. We report our strategy for the treatment of cavernous malformations in pregnant women, with reference to the relevant literature. Asymptomatic patients and those with mild symptoms are usually followed up conservatively by magnetic resonance imaging, without active treatment, but surgical treatment is indicated in patients with severe or progressive symptoms; surgery should also be considered in patients with mild symptoms having risk factors for bleeding. If surgical treatment is selected, the operation plan needs to be devised in collaboration with the specialties of anesthesiology and obstetrics and gynecology, rather than by the brain surgeon alone, in view of the possibility of occurrence of complications specific to pregnant women, such as complications related to weight gain and difficulty in securing the airway, which develop during the perioperative period. PMID:23979052

Yamada, Shuichi; Nakase, Hiroyuki; Nakagawa, Ichiro; Nishimura, Fumihiko; Motoyama, Yasushi; Park, Young-Su

2013-01-01

36

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.  

PubMed

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed. PMID:16716158

Vercellino, N; Nozza, P; Oddone, M; Bava, G L

2006-07-01

37

Spinal dysraphism: genetic relation to neural tube malformations.  

PubMed Central

The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column. Of 364 sibs of index patients, 9 had an encephaly and 6 spina bifida cystica, a pro-proportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly. It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations. PMID:794474

Carter, C O; Evans, K A; Till, K

1976-01-01

38

Vascular malformations revisited.  

PubMed

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

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

2015-01-01

39

Cord Blood and Transplants  

MedlinePLUS

... this page Print this page Cord blood and transplants Umbilical cord blood has an important and growing ... transplants How cord blood is collected for a transplant Cord blood is one of three sources of ...

40

Spinal anaesthesia for Caesarean section in a patient with a cervical arteriovenous malformation  

Microsoft Academic Search

Purpose  Arteriovenous malformations (AVM) of the spinal cord are rare. We report the successful management of a patient with a cervical\\u000a spinal cord AVM undergoing Caesarean section delivery, using a spinal anaesthetic.\\u000a \\u000a \\u000a \\u000a Clinical features  Based on previous radiological investigations, the patient was known to have an AVM at the third cervical level of her spinal\\u000a cord. After application of monitors and intravenous

B. Y. Ong; J. Littleford; R. Segstro; D. Paetkau; I. Sutton

1996-01-01

41

Chiari II Malformation and Syringomyelia  

Microsoft Academic Search

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

Spyros Sgouros

42

Familial Cavernous Malformations (CCM) - Common Hispanic Mutation  

MedlinePLUS

... Learn More Familial Cavernous Malformations (CCM) - Common Hispanic Mutation What is Familial Cavernous Malformations (CCM)? Cerebral Cavernous ... Malformations (CCM)? CCM may be inherited due to mutations in one of three genes, CCM1, CCM2, or ...

43

Arteriovenous Malformation Management  

SciTech Connect

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

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

1996-11-15

44

Spinal cord contusion  

PubMed Central

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

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

2014-01-01

45

Temporary umbilical loop colostomy for anorectal malformations.  

PubMed

Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137

Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

2012-11-01

46

Amphibian Population Declines and Malformations  

E-print Network

Journal of Science 49:70-71 Alberta Naturalist 11:1-4 Conservation Biology 7:355-362, 8:72-85, 10 growth ·Organophosphate Insecticides: Chemicals & Effects: Above plus malformations and altered behavior

Gray, Matthew

47

Split Decomp  

NSDL National Science Digital Library

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

Tony Weisstein (Truman State University; Biology)

2007-04-20

48

Macroglossia due to venous malformation  

Microsoft Academic Search

Massive vascular malformation involving tongue can cause significant functional impairment. In this report we describe a rare\\u000a case of extensive venous malformation involving tongue leading to obstructive sleep apnoea, inability to speak, eat, severe\\u000a discomfort due to exposure induced dryness and ulceration. Multimodality treatment approach comprising of sclerotherapy, electrocautery\\u000a and radiation therapy was used in this case.

T. S Anand; Ritu Mittal; T. B. Shashidhar; R. K. Sharma

2006-01-01

49

Malformations of cortical development  

PubMed Central

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

Pang, Trudy; Atefy, Ramin; Sheen, Volney

2012-01-01

50

Pancreatic Arteriovenous Malformation  

PubMed Central

An unusual case of pancreatic arteriovenous malformation (P-AVM) combined with esophageal cancer is reported. A 59-year-old man was admitted with upper abdominal pain. Contrast-enhanced computed tomography showed numerous strongly enhanced abnormal vessels and a hypovascular lesion in the area of the pancreatic tail. Angiographic study of the celiac artery confirmed racemose vascular networks in the tail of the pancreas. Endoscopic retrograde pancreatography revealed narrowing and displacement of the main pancreatic duct in the tail of the pancreas. Screening esophagoscopy showed a 0-IIa+IIc type tumor in the lower thoracic esophagus. Histological examination of esophagoscopic biopsies showed squamous cell carcinoma. Based on these findings, P-AVM or pancreatic cancer and esophageal cancer were diagnosed. Video-assisted thoracoscopic esophagectomy and distal pancreatectomy were performed. Histological examination of the resected pancreas revealed abundant abnormal vessels with intravascular thrombi. In addition, rupture of a dilated pancreatic duct with pancreatic stones and both severe atrophy and fibrosis of the pancreatic parenchyma were observed. The final diagnoses were P-AVM consequent to severe chronic pancreatitis and esophageal carcinoma. The patient's postoperative course was relatively good. PMID:24574946

Yamabuki, Takumi; Ohara, Masanori; Kimura, Noriko; Okamura, Kunishige; Kuroda, Aki; Takahashi, Ryo; Komuro, Kazuteru; Iwashiro, Nozomu

2014-01-01

51

Pulmonary arteriovenous malformations.  

PubMed

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

Shovlin, Claire L

2014-12-01

52

Comparison of an animal model of arteriovenous malformation with human arteriovenous malformation.  

PubMed

This study assessed the blood flow and histological changes of an animal model of arteriovenous malformation (AVM) over 84 days in 71 rats, and compared the histological findings to 17 specimens of human AVM. Carotid-jugular fistula blood flow positively correlated with time. The maximum flow rate occurred at 42 days, at which time the nidus was considered mature and was histologically similar to human AVMs. Morphological similarities between the model and human AVM vessels included heterogeneously thickened walls, splitting of the elastic lamina, thickened endothelial layers, endothelial cushions, lack of tight junctions, loss of endothelial continuity, endothelial-subendothelial adherent junctions, and luminally directed filopodia. These findings support the theory that vascular changes in human AVMs are secondary to increased flow and provide a basis for using this model in studies of AVMs. PMID:19910197

Tu, Jian; Karunanayaka, Athula; Windsor, Apsara; Stoodley, Marcus A

2010-01-01

53

Split gland  

DOEpatents

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

Petranto, J.J.

1989-09-05

54

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

PubMed Central

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

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

2012-01-01

55

[Bilateral multilobular cystic adenomatoid malformation].  

PubMed

We reported a case of bilateral and multilobar Congenital Cystic Adenomatoid Malformation (C.C.A.M.) in a four months old child with good clinical results after resections of the lesions. This is a relatively rare form of pulmonary illness. The final prognosis, in those patients, depends on the type of malformation, the presence or absence of fetal hydrops and on the degree of affected lung. There have been reported a few cases of multiple affectation. We will consider the physiopathological aspects of the case, late clinical presentation and treatment and the positive surgical response based in the findings of the functional and anatomic imagen studys. PMID:8679395

Tristán, J U; Gracía Urgellés, X; Wiehoff Neumann, A; Hernández Briz Estévez Rosas, S; Ruiz, M P; Pavcovich Calvo, F M

1995-10-01

56

Ischemic spinal cord infarction in children without vertebral fracture  

PubMed Central

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

Nance, Jessica R.; Golomb, Meredith R.

2007-01-01

57

Abernethy malformation: a case report  

PubMed Central

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

2012-01-01

58

Reconstruction of middle ear malformations  

PubMed Central

Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

Schwager, Konrad

2008-01-01

59

Congenital Pulmonary Malformation in Children  

PubMed Central

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

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

60

Management of perinatal lung malformations.  

PubMed

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

Macardle, C A; Kunisaki, S M

2015-02-01

61

Cord blood testing  

MedlinePLUS

... this and other, future medical purposes. Cord blood banking for personal use is done by private companies. ... Umbilical Cord Blood Banking. ACOG Committee Opinion No. 399. ... Gynecologists. Obstet Gynecol . 2008;111:475-7. (Reaffirmed 2012) ...

62

The Effects of Amniotic Fluid on the Histopathologic Changes of Exposed Spinal Cord in Fetal Sheep  

Microsoft Academic Search

Background: Experimental studies have shown that in myelomeningocele, the primary malformation is neural tissue damage resulting from exposure of neural tissue to amniotic fluid. In this study, the effects of amniotic fluid on histopathologic changes of exposed spinal cord in fetal sheep were evaluated. Methods: In an experimental trial, 10 fetal sheep in two groups containing five subjects (group A)

Abdolhamid Amouee; Mehrdad Memarzadeh; Mahmood Ashrafi; Mehdi Farid DVM; Mohammad-Hasan Sanei; Sarang Soroori DVM; Elyas Vahed DVM; Mehrdad Yadegari DVM

63

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

PubMed

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

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

2011-12-01

64

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

NASA Astrophysics Data System (ADS)

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

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

2009-02-01

65

Cryptic vascular malformations involving the brainstem  

SciTech Connect

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

Yeates, A.; Enzmann, D.

1983-01-01

66

[Malformations of the esophagus: diagnosis and therapy].  

PubMed

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

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

2013-03-01

67

Bridging spinal cord injuries  

E-print Network

Minireview Bridging spinal cord injuries James W Fawcett Address: Cambridge University Centre for Brain Repair, Robinson Way, Cambridge CB2 0PY, UK. Email: jf108@cam.ac.uk Repair of the injured spinal cord has been one of the great quests... why not transplant Abstract One strategy for spinal cord injury repair is to make cellular bridges that support axon regeneration. However, the bridging cells often fail to integrate with host tissue and may lead to increased pain sensitivity. Recent...

2008-10-15

68

Four cases of trisomy 18 syndrome with limb reduction malformations.  

PubMed Central

Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations. Images PMID:6492096

Christianson, A L; Nelson, M M

1984-01-01

69

Diffuse malformations of cortical development.  

PubMed

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

Bahi-Buisson, Nadia; Guerrini, Renzo

2013-01-01

70

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation  

PubMed Central

AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.?? PMID:10873992

Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.

2000-01-01

71

Overview of Spinal Cord Disorders  

MedlinePLUS

... or anterior root) contains nerve fibers that carry impulses (signals) from the spinal cord to muscles to ... Down the Spinal Cord Spinal nerves carry nerve impulses to and from the spinal cord through two ...

72

Management of Pulmonary Arteriovenous Malformations  

PubMed Central

Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up. PMID:22379273

Meek, Mary E.; Meek, James C.; Beheshti, Michael V.

2011-01-01

73

Scalp arteriovenous malformations in young  

PubMed Central

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

Gupta, Rakesh; Kayal, Akshat

2014-01-01

74

Complicated pneumothorax and congenital lung cystic malformation.  

PubMed

Congenital cystic adenomatoid malformation, also named congenital pulmonary airway malformation (CPAM), is a congenital lung abnormality which is uncommon in adults. The usual radiological appearance of CPAM is a cystic space-occupying lesion. We present one case of CPAM with unusual clinical and radiological findings, a complicated spontaneous pneumothorax with intracystic haemorrhage with successful conservative initial treatment, despite acute haemodynamic instability. PMID:24694267

Attou, Rachid; Reper, Pascal

2014-04-01

75

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

PubMed Central

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

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

2014-01-01

76

[Non-syringomelic medullary syndrome with Arnold-Chiari malformation (author's transl)].  

PubMed

The authors present 15 observations of a medullary syndrome of the non-syringomelic type, in patients with Arnold-Chiari's malformation (type I; 13 times - type II; twice), verified surgically, and without severe malformations of the occipito-vertebral articulation. Brown-Sequard's disease was present in 6 cases, subacute combined degeneration in 2 cases, and pyramidal lesions were very predominant in two other cases. The last 5 cases had cordonal signs associated with signs of disturbance of the anterior horns in the medulla, affecting all four limbs, and more especially the lower limbs. In four cases the medullary cavity was exposed, and in two cases extended along the whole length of the cord up to the terminal cone. The literature is reviewed and diagnostic and pathogenic problems raised by these myelopathies are discussed. They merit systematic investigation. PMID:749125

Trillet, M; Joyeux, O; Lapras, C; Schott, B; Girard, P F

1978-01-01

77

Spinal Cord Infarction  

MedlinePLUS

... prevent and treat them. NIH Patient Recruitment for Spinal Cord Infarction Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 ... National Spinal Cord Injury Association 75-20 Astoria Blvd Suite ...

78

Intramedullary spinal cord astrocytomas  

Microsoft Academic Search

Intramedullary spinal cord tumors (IMSCT) are rare lesions and can occur in any age group. They are the most common intramedullary spinal cord tumors in children and the second most common in adults. Most of these astrocytomas are low-grade and may present after a symptomatic period of months to years. They can become symptomatic with back or neck pain, radicular

Scott P. Sanderson; Paul R. Cooper

2003-01-01

79

Autologous cord blood transfusion.  

PubMed

Newborn piglets were exsanguinated (60% of blood volume) and retransfused 1 h later. One test group received adult pig red blood cells, the other piglet cord blood cells; controls were infused with plasma. While all controls died, satisfactory results were achieved in piglets transfused with either adult or foetal blood. The feasibility of collecting human cord blood for transfusion was assessed in 100 samples of human cord blood. Blood was collected aseptically and aerobic and anaerobic cultures set up. All samples of cord blood were sterile, and all were Mycoplasma negative. Coagulation parameters were analysed in eight cord plasma samples stored at -20 degrees C for 45 days. No significant abnormalities were found immediately after birth or after storage. PMID:7949798

Ballin, A; Kenet, G; Gutman, R; Samra, Z; Zakut, H; Meytes, D

1994-07-01

80

Chiari malformations: diagnosis, treatments and failures.  

PubMed

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change. PMID:25418275

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

2014-12-01

81

Modeling spinal cord biomechanics  

NASA Astrophysics Data System (ADS)

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

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

2012-02-01

82

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

PubMed

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

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

2013-03-01

83

A gene map of congenital malformations.  

PubMed Central

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

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

1994-01-01

84

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

PubMed Central

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

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

2007-01-01

85

Central Cord Syndrome  

MedlinePLUS

... to those over the age of 50. What research is being done? Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological ...

86

Cord-Blood Banking  

MedlinePLUS

... cord blood mainly because of the promise that stem cell research holds for the future. Most of us would have little use for stem cells now, but research into using them to treat diseases is ongoing — ...

87

Spinal Cord Injury 101  

MedlinePLUS Videos and Cool Tools

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

88

Umbilical cord blood transplantation  

Microsoft Academic Search

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

Demetrios Petropoulos; Ka Wah Chan

2005-01-01

89

Umbilical cord blood transplantation  

Microsoft Academic Search

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

Demetrios Petropoulos; Ka Wah Chan

2006-01-01

90

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

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

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

2012-01-01

91

Malformation and plastic surgery in childhood  

PubMed Central

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

Siegert, Ralf; Magritz, Ralph

2014-01-01

92

Thermocouple split follower  

DOEpatents

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

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

1980-01-01

93

Pulmonary arteriovenous malformations: therapeutic options.  

PubMed

We have treated 21 patients (13 female, 8 male) with pulmonary arteriovenous malformations (PAVMs). Mean age at diagnosis was 37.5 years (range, 15 to 72 years). Presenting symptoms included dyspnea on exertion (67%), hereditary hemorrhagic telangiectasia (57%), and major neurologic events (33%). In our early experience, 8 patients had no specific treatment; their case histories illustrate the major neurologic complications of untreated PAVMs. Nine patients (8 primarily, 1 after recurrence) underwent conservative surgical excision; 4 had lobectomy, and 5 had segmentectomy or subsegmental excision. One patient underwent staged bilateral thoracotomies for multiple bilateral lesions. The arterial oxygen tension was found to increase after excision of large or solitary PAVMs. All surgically treated patients were relieved of dyspnea, and none had postoperative recurrence of PAVMs or neurologic complications related to PAVMs. Five patients underwent balloon occlusion of PAVMs. Two patients chose to have solitary PAVMs occluded rather than undergo thoracotomy. One underwent surgical excision 5 years later, and the other required repeat balloon embolization 4 years later when recanalization of the PAVMs was documented. Three patients with numerous PAVMs received palliation with multiple balloon embolizations. The high incidence of associated major neurologic complications mandates aggressive treatment of PAVMs whenever feasible. Conservative surgical resection remains the treatment of choice. Balloon embolization offers an alternative therapy for patients who are poor surgical risks or those whose lesions are too numerous to resect. PMID:8347006

Puskas, J D; Allen, M S; Moncure, A C; Wain, J C; Hilgenberg, A D; Wright, C; Grillo, H C; Mathisen, D J

1993-08-01

94

Chiari Malformation in otology practice.  

PubMed

The purpose of the study was to evaluate prevalence, characteristic symptoms, and management of Chiari Malformation 1 (CM1). A retrospective chat review was made in Otology Tertiary Department including 439 otologic patients referred to the Helsinki University Hospital Radiology Department for head magnetic resonance imaging (MRI) during 2005 and also among 42 patients seen at the Department of Neurosurgery in years 2001-2005 with a diagnosis of CM1. We made a structured analysis of medical records focusing on patient history, neurologic symptoms, and radiologic findings. For surgical patients, information was collected on symptoms, treatment, and operative outcome. The prevalence of CM1 in the 439 otologic patients was 0.9%. Most CM1 patients sent to the Neurosurgery Department were operated on. Two months postoperatively, 26 patients (68%) had benefited from the surgery, but 12 patients (32%) experienced no change to symptoms. The possibility of CM1 should be borne in mind in patients presenting with atypical benign positional vertigo or recurrent facial paresis. PMID:19409739

Levo, Hilla; Tapani, Erna; Karppinen, Atte; Kentala, Erna

2010-02-01

95

Delayed presentation of anorectal malformations  

PubMed Central

Aims and Objectives: Delayed management of anorectal malformation (ARM) increases the surgical and functional complications for the patient. We defined “delayed presentation of ARM” and reviewed our patients with ARM to find out the incidence and causes of delayed presentation. Materials and Methods: Patients satisfying the criteria of “delayed presentation of ARM” were involved. Detailed information of each patient including the mode of presentation, associated anomalies, plan of management and follow-up was obtained from the hospital records. Results: Between 2003 and 2006, 43 patients satisfied our criteria of “delayed presentation of ARM”. There were 21 males and 22 females. Seventeen of these males presented with low-type ARM. Eleven of them were managed by a single-stage procedure. These “delayed presenters” had to live with constipation, inadequate weight gain and parental anxiety for a greater time. Analysis of the outcomes showed more functional complications in patients who had undergone failed perineal surgery previously. In females with low ARM, the procedure of choice was anterior sagittal anorectoplasty (ASARP). Single stage surgery provides good outcomes for most of low type of ARMs. High-type ARMs in males and females were managed by a staged procedure. Conclusion: “Delayed presentation of ARM” is a major group of ARM in our setup. The management and results of their treatment are not different from those of the early presenters. The most common cause of delayed ARM is wrong advice given by the health care providers followed by inadequate treatment elsewhere. Corrective surgeries taking second attempt in perineum always produces poor outcomes. PMID:20011470

Sinha, Shandip Kumar; Kanojia, Ravi P.; Wakhlu, Ashish; Rawat, J. D.; Kureel, S. N.; Tandon, R. K.

2008-01-01

96

Surgical treatment for venous malformation.  

PubMed

Sclerotherapy is generally the preferred treatment for venous malformation (VM) with surgery usually playing an adjunctive role. This study presents our experience with surgical treatment of VMs. Consecutive patients were identified from our vascular anomalies database 1996-2011 and patient demographics, location of the lesion, type of tissue(s) affected and symptoms were analysed. The patients completed a questionnaire to assess the impact of surgery on the severity of symptoms, appearance, function and overall quality of life (QoL), using a visual analogue scale of 0 (no symptom) to 10 (maximal symptom). They also rated their overall satisfaction of treatment using a scale of 0 (complete dissatisfaction) to 10 (complete satisfaction). Fifty patients with VM underwent a total of 58 procedures. Complication occurred in six patients (9.7% of operations), including transient sensory loss (n=3) and permanent frontal branch palsy (n=1), haematoma formation (n=1) and minor wound dehiscence (n=1). At least 50% improvement in symptoms of background pain, acute episodic pain, contour deformity and skin discolouration occurred in 88.9%, 92.3%, 83.3% and 75.0% of patients, respectively. At least 50% improvement in the appearance, function and overall QoL occurred in 54.3%, 71.4% and 70.4% of patients, respectively. The mean overall patient satisfaction with the treatment was 8.9 (range, 1-10). Surgery remains an important treatment modality for selected patients with VM having low complication rates and high patient satisfaction. It improves the appearance, function and overall QoL for the majority of the patients by reducing the severity of pain, contour deformity and skin discolouration. PMID:24012651

Steiner, Frederica; FitzJohn, Trevor; Tan, Swee T

2013-12-01

97

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

PubMed

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

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

2014-01-01

98

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience  

SciTech Connect

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

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

2013-06-15

99

[Hyperkeratotic vascular malformations. Presentation of three cases].  

PubMed

Hyperkeratotic vascular malformations (verrucous hemangiomas) are infrequent vascular lesions present from birth. Initially, they are reminiscent of port wine stains or childhood hemangioma, but over time they gradually take on their typical warty and hyperkeratotic appearance. These changes are probably due to trauma, scratching and bleeding episodes. Because the lesion is deep and goes beyond the clinical lesion, treatment is difficult and involves many recurrences. We present three cases of this vascular malformation, in two males aged 45 and 62 and a 30-year-old female. All three had the lesion from birth, and presented with frequent bleeding episodes. PMID:16476321

Piqué, Enric; Pérez-Cejudo, Juan A; Palacios, Santiago; Martínez, María Sol

2005-12-01

100

Sequelae of dental trauma: the malformed tooth  

PubMed Central

Here, we report a case of 10-year-old boy who came with a complaint of missing upper front teeth and was also concerned about his aesthetics. Significant history of trauma was present in his toddler period. Diagnosis of malformed upper right central incisor (11) by radiological investigations was carried out. Surgery was performed and there was removal of the impacted malformed upper right central incisor (11). Healing was uneventful. The patient is under follow-up for aesthetic rehabilitation to be carried out. PMID:23362061

Chaudhary, Seema; Chaitra, T R; Vijayran, Manisha; Kulkarni, Adwait Uday

2013-01-01

101

Anterior spinal cord syndrome of unknown etiology  

PubMed Central

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

Klakeel, Merrine; Thompson, Justin; McDonald, Frank

2015-01-01

102

Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum.  

PubMed

Congenital pulmonary airway malformations (CPAM) are a family of hamartomatous disorders due to the uncontrolled overgrowth of the terminal bronchioles. Congenital pulmonary airway malformations can co-exist with cardiovascular and/or urogenital malformations, but their association with thoracopulmonary malformations is extremely rare. We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis. PMID:22414029

Pizzi, Marco; Fassan, Matteo; Ludwig, Kathrin; Cassina, Matteo; Gervasi, Maria Teresa; Salmaso, Roberto

2012-06-01

103

Angiographically occult arteriovenous malformations of the brain  

PubMed Central

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

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

1978-01-01

104

Segmental costovertebral malformation associated with lipomyelomeningocoele.  

PubMed

We describe 2 patients with segmental costovertebral malformation, a form of spondylocostal dysostosis, associated with tethering of the conus to a lipomyelomeningocoele. Such an association is rare. In both these patients the defects occurred sporadically. The relevant literature is reviewed. PMID:15936198

Nadkarni, Trimurti D; Menon, Ram Kumar; Desai, Ketan I; Goel, Atul

2005-06-01

105

Additional congenital defects in anorectal malformations  

Microsoft Academic Search

From 1974 until 1995 a total of 264 (141 ?, 123 ?) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of

E. A. M. Hassink; P. N. M. A. Rieu; B. C. J. Hamel; R. S. V. M. Severijnen; F. H. J. M. van der Staak; C. Festen

1996-01-01

106

Banana Split Oatmeal Ingredients  

E-print Network

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

Liskiewicz, Maciej

107

Congenital vascular malformations in scintigraphic evaluation  

PubMed Central

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

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

2014-01-01

108

Spinal cord tumors  

Microsoft Academic Search

.   Spinal cord tumors are rare; however, every radiologist should be able to recognize and readily identify those lesions often\\u000a found in younger patients or children [1, 2, 3, 4, 5, 6, 7, 8,9]. Early diagnosis plays an important role in the management\\u000a of the lesions and interferes with the prognosis and final outcome of the patient [10]. Plain X-ray

D. L. F. Balériaux; Service de Radiologie

1999-01-01

109

Baroclinic splitting of jets  

NASA Astrophysics Data System (ADS)

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

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

2008-08-01

110

Tethered cord syndrome in adults  

Microsoft Academic Search

RE: Gupta SK, Khosla VK, Sharma BS, Mathuria SN, Pathak A, Tewari MK. Tethered cord syndrome in adults. Surg Neurol 1999;52:362–70.The authors present a series of 18 adult patients with tethered cord syndrome who were evaluated with MRI. The most frequent MRI finding was a low-lying cord with an intradural and\\/or extradural lipoma; MRI findings correlated well with operative findings.

F. B Maroun; J. C Jacob; G. P Murray

2000-01-01

111

Arteriovenous malformation detected by small bowel endoscopy.  

PubMed

Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine. PMID:25473391

Fujii, Takaaki; Morita, Hiroki; Sutoh, Toshinaga; Takada, Takahiro; Tsutsumi, Soichi; Kuwano, Hiroyuki

2014-09-01

112

Laser treatment of congenital vascular malformations.  

PubMed

Treatment of vascular malformations is one of the main indications for laser application in dermatology. The argon laser is suitable for coagulation of superficial lesions, the Nd:YAG laser for thicker ones. Vaporization or excision of vascular lesions can be performed by means of the CO2 laser. International standard of argon laser therapy of port wine stains are 60 to 70% good results in adult patients afflicted with red and purple lesions. In contrast argon laser therapy of pink lesions and of children is less successful. But more recently the flashlamp pumped dye laser has improved treatment results in children, since this laser acts much more vessel specific than the argon laser. Other congenital vascular lesions that respond to laser therapy are capillary hemangiomas, cavernous hemangiomas, and lymphangiomas. Future development may expand application of laser in the treatment of vascular malformations. PMID:2090705

Landthaler, M; Hohenleutner, U

1990-01-01

113

Dandy–Walker malformation: An incidental finding  

PubMed Central

Dandy–Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging. PMID:20838490

Tadakamadla, Jyothi; Kumar, Santhosh; Mamatha, G. P.

2010-01-01

114

Embolization and radiosurgery for arteriovenous malformations  

PubMed Central

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

Plasencia, Andres R.; Santillan, Alejandro

2012-01-01

115

Polarized Antenna Splitting Functions  

SciTech Connect

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

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

2009-10-17

116

Malformations of cortical development and epilepsy  

PubMed Central

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

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

117

Congenital lung malformations: an ongoing controversy  

PubMed Central

Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management. PMID:23484999

Burge, DM; Marven, SS

2013-01-01

118

Congenital Intracranial Vascular Malformations in Children*  

PubMed Central

The clinical, laboratory, and other features of 16 children with congenital intracranial vascular malformations seen over a period of 15 years are presented. 13 patients had an arteriovenous (AV) malformation, 2 patients an aneurysm of the vein of Galen, and 1 a congenital internal carotid/internal jugular fistula. Based on onset of symptoms the patients ranged in age from 3 months to 16 years with an average age of 7½ years; however, 5 patients had their first clinical manifestation before 6 years of age. Unfortunately, definitive diagnosis could not be made until an average of 15½ years. The most important clinical manifestations were focal or generalized seizures and spontaneous intracranial bleeding, each occurring in 6 patients. Of 2 patients who presented with hydrocephalus, 1 had had an unexplained episode of cardiac failure during infancy. Inequality in the size of the legs, and periodic headaches were the initial manifestations in 2 other patients. Analysis of this series of patients with intracranial AV malformations suggests the following diagnostic recommendations: careful auscultation of the skull for bruits should be performed in all infants and children with cardiac failure of unknown aetiology; patients with focal seizures refractory to anticonvulsant therapy should be re-examined at frequent intervals to detect focal neurological deficit which otherwise may go unnoticed; and, finally, patients with a seizure disorder who develop focal signs of neurological deficit deserve a complete diagnostic investigation, including contrast studies. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:5314563

Lagos, Jorge C.; Riley, Harris D.

1971-01-01

119

What Is Spinal Cord Injury?  

MedlinePLUS

... addition, there are two degrees of SCI severity : Complete injury is the situation when the injury is so ... National Spinal Cord Injury Association. Understanding spinal cord injury . Retrieved May 21, 2012, from http://www.spinalcord.org/resource-center/askus/index.php?pg=kb. ...

120

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

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

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

2008-01-01

121

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

PubMed Central

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

Eivazi, Behfar; Werner, Jochen A.

2014-01-01

122

Macrocephaly–capillary malformation syndrome: Three new cases  

Microsoft Academic Search

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

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

123

Hemangiomas and Vascular Malformations: Current Theory and Management  

PubMed Central

Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

Richter, Gresham T.; Friedman, Adva B.

2012-01-01

124

Temporal variability in birth prevalence of cardiovascular malformations  

Microsoft Academic Search

OBJECTIVETo investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare “anatomical” and “physiological” diagnostic hierarchies within a population.DESIGNRetrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy.SETTINGThe resident population of one health region.PATIENTSAll infants live born from 1985 to 1997 with cardiovascular malformations confirmed by echocardiography, cardiac catheterisation, surgery or autopsy.MAIN

C Wren; S Richmond; L Donaldson

2000-01-01

125

A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland  

Microsoft Academic Search

Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and

K. S. Kuehl; C. A. Loffredo

2006-01-01

126

Retraining the injured spinal cord  

NASA Technical Reports Server (NTRS)

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

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

2001-01-01

127

Malformations Among the X-Linked Intellectual Disability Syndromes  

PubMed Central

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

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

2013-01-01

128

EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.  

PubMed

An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases. PMID:24482415

Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

2014-03-01

129

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

PubMed Central

This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS) venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF) volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of posterior fossa hypoplasia, where raised pressure occurs as a result of obstruction to flow of CSF from the head to the spine, and cerebral injury with raised pressure occurs in anencephaly by this mechanism. The current view of dysraphism is that low central nervous system pressure and exposure to amniotic fluid, damage the central nervous system. The hypothesis proposed in this essay supports the view that spina bifida is a manifestation of progressive hydrocephalus in the fetus. It is proposed that that mesodermal growth insufficiency influences both neural tube closure and central nervous system pressure, leading to dysraphism. PMID:18405364

Williams, Helen

2008-01-01

130

Banking on cord blood stem cells  

Microsoft Academic Search

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

Michael J. Sullivan

2008-01-01

131

Attitudes Towards Individuals with Spinal Cord Injuries  

ERIC Educational Resources Information Center

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

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

2010-01-01

132

Stabilized Zeeman split laser  

NASA Technical Reports Server (NTRS)

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

1981-01-01

133

Laser treatment of oral vascular malformations  

NASA Astrophysics Data System (ADS)

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

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

2014-01-01

134

Intraventricular cavernous malformation radiologically mimicking meningioma.  

PubMed

We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM. PMID:19119474

Jin, Sung-Chul; Ahn, Jae-Sung; Kwun, Byung-Duk; Kwon, Do Hoon

2008-11-01

135

Stereotactic radiosurgery of intracranial cavernous malformations.  

PubMed

Despite increasing worldwide experience, the role of stereotactic radiosurgery (SRS) in the management of cerebral cavernous malformations (CMs) remains controversial. Microsurgical excision of easily accessible CMs is typically safe; therefore, removal remains the gold standard for most of the symptomatic hemispheric lesions. However, there is now sufficient evidence supporting the use of SRS for the difficult cases. Waiting for the cumulative morbidity of the natural history to justify intervention does not serve the patient's interest, therefore, we argue for early radiosurgical intervention. Carefully designed randomized controlled trials might resolve controversies concerning the role of SRS in treating cerebral CMs. PMID:24093575

Nagy, Gábor; Kemeny, Andras A

2013-10-01

136

Congenital lung malformations: informing best practice.  

PubMed

The management of congenital lung malformations is controversial both in the prenatal and postnatal periods. This article attempts to inform best practice by reviewing the level of evidence with regard to prenatal diagnosis, prognosis, and management and postnatal management, including imaging, surgical indication, surgical approach, and risk of malignancy. We present a series of clinically relevant statements along those topics and analyze the evidence for each. In the end, we make a plea for an adequate description of the lesions, both before and after birth, which will allow future comparisons between management options and the initiation of prospective registries. PMID:25459011

Baird, Robert; Puligandla, Pramod S; Laberge, Jean-Martin

2014-10-01

137

Brain arteriovenous malformations: from diagnosis to treatment.  

PubMed

Brain arteriovenous malformations (bAVM) are a major cause of morbidity in young people. The main mode of presentation is with a cerebral bleeding or seizures, although nowadays, due to the increased use of MRI, more asymptomatic bAVMs are encountered. The clinical course of asymptomatic bAVMs seems to be mild in comparison to bAVMs that presented with a cerebral hemorrhage. This finding may lead to a paradigm shift regarding treatment of asymptomatic bAVMs. This review discusses the latest findings in bAVM epidemiology and natural history, and compares the optimal imaging modalities and best treatment options. PMID:21464809

Buis, D R; Van Den Berg, R; Lagerwaard, F J; Vandertop, W P

2011-03-01

138

Endovascular approaches to pial arteriovenous malformations.  

PubMed

Endovascular approaches to arteriovenous malformations (AVMs) are often necessary to define and help treat these often complex lesions. Angiography provides important information to help plan surgical or radiosurgical approaches. Modern embolization techniques allow AVMs to be treated with the goals of making surgery safer and easier, eliminating high-risk features in patients with AVMs who are otherwise not candidates for treatment, and even potentially curing the patient of the lesion. Liquid embolic agents have significantly advanced what is possible with endovascular treatment of AVMs. PMID:24994088

Sanborn, Matthew R; Park, Min S; McDougall, Cameron G; Albuquerque, Felipe C

2014-07-01

139

The pediatric Chiari I malformation: a review  

Microsoft Academic Search

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

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

2007-01-01

140

Role of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

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

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

141

Tethered Cord in Children with Spina Bifida  

Microsoft Academic Search

Any process that attaches and fixes the spinal cord, inhibiting movement of the cord in the spinal canal, has the potential\\u000a to cause tethered cord syndrome. Motion of the head and trunk changes the length of the spinal canal and the cord must move\\u000a cranially to accommodate increases in length. If the cord is unable to move, it must lengthen

Robin M. Bowman; David G. McLone

142

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

PubMed Central

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

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

2014-01-01

143

Split image optical display  

DOEpatents

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

Veligdan, James T. (Manorville, NY)

2007-05-29

144

The Splitting Group  

ERIC Educational Resources Information Center

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

Norton, Anderson; Wilkins, Jesse L. M.

2012-01-01

145

The Splitting Loope  

ERIC Educational Resources Information Center

Teaching experiments have generated several hypotheses concerning the construction of fraction schemes and operations and relationships among them. In particular, researchers have hypothesized that children's construction of splitting operations is crucial to their construction of more advanced fractions concepts (Steffe, 2002). The authors…

Wilkins, Jesse L. M.; Norton, Anderson

2011-01-01

146

Split Injection Gas Chromatography  

NSDL National Science Digital Library

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

147

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype  

PubMed Central

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

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

2005-01-01

148

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis  

Microsoft Academic Search

Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by

Robert F. Hevner

2005-01-01

149

Long term respiratory outcomes of congenital thoracic malformations.  

PubMed

The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631

Davenport, Mark; Eber, Ernst

2012-04-01

150

Field Guide to Malformations of Frogs and Toads  

E-print Network

Field Guide to Malformations of Frogs and Toads With Radiographic Interpretations U.S. Department and Toads With Radiographic Interpretations Carol U. Meteyer USGS National Wildlife Health Center Madison. Suggested citation: Meteyer, C.U. 2000. Field guide to malformations of frogs and toads with radiographic

Torgersen, Christian

151

Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases  

PubMed Central

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

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

2012-01-01

152

The ear and its malformations: strange beliefs and misconceptions  

Microsoft Academic Search

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

Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi

2003-01-01

153

Stereotactic proton beam therapy for intracranial arteriovenous malformations  

Microsoft Academic Search

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

Frederik J. A. I.. Vernimmen; Jacobus P. Slabbert; Jennifer A. Wilson; Shaheeda Fredericks; Roger Melvill

2005-01-01

154

Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure  

Microsoft Academic Search

Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21

José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvão do Amaral Campos; Kenji Nishinari; Nelson Wolosker

2010-01-01

155

Endoscopic assisted cochlear implants in ear malformations.  

PubMed

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

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

2014-08-01

156

Adjustment to Spinal Cord Injury  

MedlinePLUS

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

157

Mid-hindbrain malformations due to drugs taken during pregnancy.  

PubMed

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

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

2014-04-01

158

Tablet Splitting: A Risky Practice  

MedlinePLUS

... information will be provided in the drug’s professional prescribing information," says Mansoor Khan, Ph.D., director of ... splitting unless it's specified in the drug’s professional prescribing information. If a patient is considering splitting a ...

159

Associated malformations in patients with limb reduction deficiencies.  

PubMed

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

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

2010-01-01

160

Bilateral Sagittal Split Osteotomy  

PubMed Central

The bilateral sagittal split osteotomy is an indispensable tool in the correction of dentofacial abnormalities. The technique has been in practice since the late 1800s, but did not reach widespread acceptance and use until several modifications were described in the 1960s and 1970s. Those modifications came from a desire to make the procedure safer, more reliable, and more predictable with less relapse. Those goals continue to stimulate innovation in the field today and have helped the procedure evolve to be a very dependable, consistent method of correction of many types of malocclusion. The operative surgeon should be well versed in the history, anatomy, technical aspects, and complications of the bilateral sagittal split osteotomy to fully understand the procedure and to counsel the patient. PMID:24872760

Monson, Laura A.

2013-01-01

161

Bilateral sagittal split osteotomy.  

PubMed

The bilateral sagittal split osteotomy is an indispensable tool in the correction of dentofacial abnormalities. The technique has been in practice since the late 1800s, but did not reach widespread acceptance and use until several modifications were described in the 1960s and 1970s. Those modifications came from a desire to make the procedure safer, more reliable, and more predictable with less relapse. Those goals continue to stimulate innovation in the field today and have helped the procedure evolve to be a very dependable, consistent method of correction of many types of malocclusion. The operative surgeon should be well versed in the history, anatomy, technical aspects, and complications of the bilateral sagittal split osteotomy to fully understand the procedure and to counsel the patient. PMID:24872760

Monson, Laura A

2013-08-01

162

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

PubMed Central

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

2014-01-01

163

Spinal cord atrophy in early Huntington's disease  

PubMed Central

Despite evidence for spinal cord involvement, it remains unclear whether spinal cord atrophy exists in early Huntington's disease. We studied magnetic resonance images, covering both brain and upper cervical cord, in two cohorts of Huntington's patients and in one cohort of Alzheimer's patients. All cohorts included healthy controls comparable with regard to age and gender. We found significant spinal cord atrophy in both cohorts of Huntington's patients but not in the cohort of Alzheimer's patients. Furthermore, spinal cord atrophy correlated with motor symptoms indicating that spinal cord atrophy occurs in the clinical stages and does not result from abnormal development.

Mühlau, Mark; Engl, Christina; Boucard, Christine C; Schmidt, Paul; Biberacher, Viola; Görsch, Isabel; Sorg, Christian; Wohlschläger, Afra; Zimmer, Claus; Hemmer, Bernhard; Weindl, Adolph

2014-01-01

164

Multimodality imaging of pancreatic arteriovenous malformation.  

PubMed

Arteriovenous malformation of the pancreas (PAVM) is a very rare entity, although it may be increasingly diagnosed with the expanding use of cross-sectional imaging of the abdomen. PAVM is characterized by a network of tangled vasculature within and surrounding all or part of the pancreas, resulting in the shunting of the arteries of the pancreas directly into the portal venous system. Here, we present a patient with chronic abdominal pain and pancreatitis found to have PAVM, based on the findings of computed tomography, magnetic resonance imaging, endoscopic retrograde cholangiopancreatography, and angiography. Differential considerations are discussed. Although PAVM is uncommon, it should be considered in the differential of patients with recurrent abdominal pain or gastrointestinal bleeding. PMID:25262988

Hansen, Wendy; Maximin, Suresh; Shriki, Jabi E; Bhargava, Puneet

2015-01-01

165

Familial Dandy-Walker malformation and leukodystrophy.  

PubMed

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

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

1997-05-01

166

Intracranial arteriovenous malformation: contralateral steal phenomena.  

PubMed

Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with 133Xe single-photon emission computed tomography. Contralateral regions of hypoperfusion were detected in all cases. Steal severity was assessed according to the contralateral steal index [ISteal(c)]. ISteal(c) was greater than 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and greater than 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males (p less than 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preoperatively identify patients at high risk for a poor surgical outcome. PMID:2477740

Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J

1989-05-01

167

Third ventricular cavernous malformation: an unusual lesion.  

PubMed

Cavernomas constitute 5-10% of all the vascular malformations of the CNS. They commonly present during the 2nd and 5th decades of life. Intraventricular cavernomas constitute rare pathological entity, constituting 2.5-10.8% of cerebral cavernomas. (1) The natural history of intraventricular cavernomas remains undefined to some extent. Those in third ventricle are different in biological nature and need more aggressive therapy. These cavernomas appear to have the ability to grow very rapidly, resulting in significant morbidity. It is not known whether waiting after acute hemorrhage from an intraventricular cavernoma improves our ability to remove the lesion safely or if waiting unnecessarily increases the risk of hydrocephalus, additional bleeding, or further lesion growth. PMID:23952135

Patibandla, Mohana Rao; Thotakura, Amit Kumar; Panigrahi, Manas Kumar

2014-01-01

168

Two major patterns of nongenetic malformations are found at autopsy.  

PubMed

Patterns of malformations seen in autopsies may contribute to the understanding of their pathogenetic mechanisms. Two entities, acardiac twins (ATs) and amniotic band disruption complex (ABDC), have distinct patterns, indicating different mechanisms, namely vascular perfusion deficit and external disruption. With ATs and ABDC as model groups, this study was undertaken to see if other dysmorphic infants with the characteristic defects of these models formed distinct and numerically important groups. A total of 192 autopsies with nongenetic malformations was divided into groups including (1) those with defects found in the ATs but not in the ABDC, (2) those with defects found only in the ABDC, and (3) those with a mixture of exclusive defects from each model group. The cases followed the characteristic defects of ATs or ABDC in 20% (group 1) and 28% (group 2), respectively, forming 2 large and distinct groups; only 4% had mixed malformations (group 3). Group 1 had different characteristics from group 2 as a result of the frequent multiple malformations, often with congenital heart defects (CHDs), internal and inferior malformations. These cases were probably related to a vascular perfusion deficit. Group 2 had a majority of females and single, external, and superior defects, but it lacked CHDs and inferior malformations. These cases were likely due to external disruption. Two large and distinct groups of autopsies with nongenetic malformations were thus identified, and their mechanisms are proposed to be similar to those of the model groups. PMID:21105785

Davies, Belinda R; Giménez-Scherer, Juan Antonio

2011-01-01

169

A developmental and genetic classification for midbrain-hindbrain malformations  

PubMed Central

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

170

Amplatzer vascular plugs in congenital cardiovascular malformations  

PubMed Central

Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

2013-01-01

171

[Intestinal malrotation: genetics features and other congenital malformations in children].  

PubMed

The article is devoted to features of prenatal development of children with intestinal malrotation. Mass, height, head and chest circumferences of children after birth have been studied. In addition all associated malformations, a blood group (ABO system) and the rhesus-factor have been investigated. In comparison to the control group of newborn the disorders of prenatal development have included associated malformations, low anthropometric data after birth, decreasing of pA gene frequency. Notable, children with intestinal malrotation have had high frequency of malformations as in the abdominal and thoracic cavities as outside intestinal innervations: the small pelvis, the facial skeleton, the upper and lower extremity. PMID:22379897

Botvin'ev, O K; Eremeeva, A V; Razumovskaia, I N; Kondrikova, E V

2011-01-01

172

Otosclerosis associated with type B-1 inner ear malformation  

PubMed Central

Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis. PMID:20948592

De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

2010-01-01

173

A case of lymphatic malformation/lymphangioma of the scrotum  

PubMed Central

Lymphatic malformation/lymphangioma of the scrotum is rare. It is caused by lymphatic abnormalities and the most common sites are the neck and axilla. The scrotum is one of the most uncommon sites. We report the case of a 12-year-old boy with pathologically confirmed cystic lymphangioma/lymphatic malformation in the scrotum. The diagnosis was suspected from ultrasonography and magnetic resonance imaging. The most common cause of a cystic mass in the scrotum is scrotal hydrocele, but cystic lymphangioma/lymphatic malformation should be considered as a differential diagnosis for multicystic scrotal mass. PMID:23986836

Akaike, Gensuke; Nozaki, Taiki; Makidono, Akari; Saida, Yukihisa; Hirabayashi, Takeshi; Suzuki, Koyu

2012-01-01

174

Prenatal diagnosis and management of fetal cardiovascular malformations.  

PubMed

Screening for fetal cardiovascular malformations is widely performed. Its accuracy is not yet satisfactory, but better training of ultrasonographers and extension from the four-chamber view to the study of the outflow tract are probably clues to an improvement. The main impact of prenatal diagnosis is still the termination of pregnancy for severe malformations and for those associated with chromosomal or extracardiac anomalies. There is now evidence that prenatal diagnosis improves perinatal morbidity or mortality for some malformations. New information about the molecular genetic basis of congenital heart disease will help in management and counselling. PMID:10813571

Todros, T

2000-04-01

175

Syndromes and malformations associated with congenital heart disease in a population-based study  

Microsoft Academic Search

Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic\\/multiply malformed infants is routinely carried out. Malformations were classified by

Victor Grech; Miriam Gatt

1999-01-01

176

14 CFR 31.57 - Rip cords.  

Code of Federal Regulations, 2012 CFR

...and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF TRANSPORTATION AIRCRAFT AIRWORTHINESS STANDARDS: MANNED FREE BALLOONS Design Construction § 31.57 Rip cords. (a) If a rip cord is used for emergency deflation, it must be...

2012-01-01

177

14 CFR 31.57 - Rip cords.  

...and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF TRANSPORTATION AIRCRAFT AIRWORTHINESS STANDARDS: MANNED FREE BALLOONS Design Construction § 31.57 Rip cords. (a) If a rip cord is used for emergency deflation, it must be...

2014-01-01

178

14 CFR 31.57 - Rip cords.  

Code of Federal Regulations, 2013 CFR

...and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF TRANSPORTATION AIRCRAFT AIRWORTHINESS STANDARDS: MANNED FREE BALLOONS Design Construction § 31.57 Rip cords. (a) If a rip cord is used for emergency deflation, it must be...

2013-01-01

179

14 CFR 31.57 - Rip cords.  

Code of Federal Regulations, 2011 CFR

...and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF TRANSPORTATION AIRCRAFT AIRWORTHINESS STANDARDS: MANNED FREE BALLOONS Design Construction § 31.57 Rip cords. (a) If a rip cord is used for emergency deflation, it must be...

2011-01-01

180

Isolated intramedullary spinal cord cysticercosis.  

PubMed

We report a case of intradural, intramedullary, spinal cord neurocysticercosis at dorsal 10-11 (D10-11) level in a mentally retarded male. A 38-year-old, mentally retarded male presented with weakness and stiffness in both the lower limbs and waist since one year. Magnetic resonance imaging revealed a D10-D11 intradural space occupying lesion with cord compression. Intraoperatively, the tumor was grayish white, soft, cystic, and intramedullary with a well-defined plane with surrounding cord tissue. Gross examination revealed a cystic lesion of 1.5×1×0.8 cm, with a whitish nodule of 0.3 cm in diameter. The cyst wall was thin, shiny, and translucent. Microscopic examination revealed cysticercous cyst. Spinal neurocysticercosis should be considered in differential diagnosis of spinal mass lesion in patients residing in endemic area such as India. PMID:22870160

Agale, Shubhangi V; Bhavsar, Shweta; Choudhury, Barnik; Manohar, Vidhya

2012-04-01

181

Malformation syndromes associated with disorders of sex development.  

PubMed

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517

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

2014-08-01

182

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

PubMed

Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. Clin. Anat. 28:184-194, 2015. © 2014 Wiley Periodicals, Inc. PMID:25065525

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

2015-03-01

183

Variants in CUL4B are Associated with Cerebral Malformations.  

PubMed

Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E L M; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M; Yntema, Helger G; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B A; Brunner, Han G; van Bokhoven, Hans; Raymond, F Lucy; Willemsen, Michèl A A P; Chelly, Jamel; Xiong, Yue; Barkovich, A James; Kalscheuer, Vera M; Kleefstra, Tjitske; de Brouwer, Arjan P M

2015-01-01

184

Management strategy after diagnosis of Abernethy malformation: a case report  

PubMed Central

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

2012-01-01

185

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

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

186

Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation  

PubMed Central

Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision. PMID:20591266

Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.

2003-01-01

187

Evaluation of spinal cord injury animal models  

PubMed Central

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

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

2014-01-01

188

Isolated intramedullary spinal cord cysticercosis  

PubMed Central

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

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

2014-01-01

189

Multiple medullary venous malformations decreasing cerebral blood flow: Case report  

SciTech Connect

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

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

1991-02-01

190

Novel transcatheter closure of internal iliac arteriovenous malformation.  

PubMed

Arteriovenous malformations arising from iliac arteries are rare anomalies. Percutaneous embolization of such malformations is an established therapeutic option. In this paper, we will describe a case, wherein the internal iliac artery feeding a giant arteriovenous fistula was closed using a patent ductus arteriosus (PDA) duct occluder percutaneously. The PDA duct occluder is a versatile device that can be used as an alternative to vascular plugs. PMID:24122535

Shankarappa, Ravindranath Khandenahally; Panneerselvam, Arunkumar; Dwarakaprasad, Ramesh; Chikkaswamy, Srinivas Budanur; Nayak, Mohan Honnayya; Nanjappa, Manjunath Cholenahally

2011-05-01

191

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

PubMed Central

The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth. PMID:4262651

Lowe, C. R.

1972-01-01

192

Intracranial hypertension associated with unruptured cerebral arteriovenous malformations.  

PubMed

Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilledema (6 patients), headache (6), transient nonepileptic focal symptoms (4), visual obscurations (3), ipsilateral carotid or ocular bruits (3), abnormal visual fields (3), focal seizures (2), and progressive visual loss (1). Enhanced computed tomography (CT) or magnetic resonance imaging (MRI) demonstrated the malformations in all 6 patients. The malformations were large, supplied by the branches of the middle and anterior cerebral arteries, with the posterior cerebral artery contributing in 3 patients, and all drained into the superior sagittal sinus. Associated venous obstruction was seen in 2 patients. Four patients underwent excision of the arteriovenous malformation, with resolution of papilledema in all 4. Measurements of cortical arterial and venous pressures during surgery in 3 patients showed decreased feeding artery pressures and elevated draining vein pressures, which normalized after removal of the malformation. Treatment in the 2 remaining patients consisted of medical therapy (acetazolamide, furosemide, steroids) alone in 1 patient, and in conjunction with proton beam radiation in the other. Papilledema resolved in the former patient, but the patient receiving proton beam radiation still had papilledema 2 years later. Intracranial hypertension associated with unruptured cerebral arteriovenous malformations occurs in young patients with high flow malformations that drain into the superior sagittal sinus, and is likely the result of increased cortical venous and superior sagittal sinus pressure. Excision of the malformation effectively reduces the intracranial pressure. PMID:2193610

Chimowitz, M I; Little, J R; Awad, I A; Sila, C A; Kosmorsky, G; Furlan, A J

1990-05-01

193

Sleep Spindle Alterations in Patients with Malformations of Cortical Development  

PubMed Central

Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep. PMID:18667284

Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.

2009-01-01

194

Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

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

2000-01-01

195

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

PubMed

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

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

2013-09-01

196

Split median raphe: case series and brief literature review.  

PubMed

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

Valerio, Enrico; Cutrone, Mario

2014-01-01

197

The SPLIT Research Agenda 2013  

PubMed Central

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

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

198

Comet LINEAR Splits Further  

NASA Astrophysics Data System (ADS)

Third Nucleus Observed with the VLT Summary New images from the VLT show that one of the two nuclei of Comet LINEAR (C/2001 A2), now about 100 million km from the Earth, has just split into at least two pieces . The three fragments are now moving through space in nearly parallel orbits while they slowly drift apart. This comet will pass through its perihelion (nearest point to the Sun) on May 25, 2001, at a distance of about 116 million kilometres. It has brightened considerably due to the splitting of its "dirty snowball" nucleus and can now be seen with the unaided eye by observers in the southern hemisphere as a faint object in the southern constellation of Lepus (The Hare). PR Photo 18a/01 : Three nuclei of Comet LINEAR . PR Photo 18b/01 : The break-up of Comet LINEAR (false-colour). Comet LINEAR splits and brightens ESO PR Photo 18a/01 ESO PR Photo 18a/01 [Preview - JPEG: 400 x 438 pix - 55k] [Normal - JPEG: 800 x 875 pix - 136k] ESO PR Photo 18b/01 ESO PR Photo 18b/01 [Preview - JPEG: 367 x 400 pix - 112k] [Normal - JPEG: 734 x 800 pix - 272k] Caption : ESO PR Photo 18a/01 shows the three nuclei of Comet LINEAR (C/2001 A2). It is a reproduction of a 1-min exposure in red light, obtained in the early evening of May 16, 2001, with the 8.2-m VLT YEPUN (UT4) telescope at Paranal. ESO PR Photo 18b/01 shows the same image, but in a false-colour rendering for more clarity. The cometary fragment "B" (right) has split into "B1" and "B2" (separation about 1 arcsec, or 500 km) while fragment "A" (upper left) is considerably fainter. Technical information about these photos is available below. Comet LINEAR was discovered on January 3, 2001, and designated by the International Astronomical Union (IAU) as C/2001 A2 (see IAU Circular 7564 [1]). Six weeks ago, it was suddenly observed to brighten (IAUC 7605 [1]). Amateurs all over the world saw the comparatively faint comet reaching naked-eye magnitude and soon thereafter, observations with professional telescopes indicated the reason for this strange behaviour: the comet's "dirty snowball" nucleus had split into two pieces (IAUC 7616 [1]). During the splitting of the nucleus, fresh material from the interior of this frozen body is suddenly exposed to the sunlight, causing a rapid increase in the evaporation process. More cometary material is released and the overall brightness increases, as more sunlight is reflected off the dust around the nucleus. The VLT observes three fragments But Comet LINEAR has just shown that it is good for another surprise. When astronomers at ESO's Paranal Observatory [2] turned the 8.2-m VLT MELIPAL telescope (UT3) towards that object in the evening of May 14, they noted that one of the two pieces of the nucleus appeared somewhat elongated. The comet is rapidly approaching the Sun - it will pass through its perihelion (the point closest to the Sun) on May 25, and it was quite low in the sky (about 20° above the western horizon). Accordingly, the image quality was not perfect, but there was no doubt that something was going on with the fragment that was closest to the Sun (denoted "B"). And indeed, when the 8.2-m VLT YEPUN telescope (UT4) obtained another image of the comet in the evening of May 16, it was obvious that fragment "B" had split into two, see PR Photos 18a-b/01 . In fact, the astronomers suspect that there may be other, smaller pieces. The distance between the two pieces of nucleus "B" of Comet LINEAR (now denoted "B1" and "B2") was only about 1 arcsec, or approximately 500 km (projected) at the present distance of the comet from the Earth (about 100 million km). The distance between these and the other nucleus ("A") increased from about 6000 km (May 14) to 7000 km (May 16). The ESO astronomers have reported their detailed findings in IAU Circular 7627 [1]. They also note that the shape of the bright cloud (the "coma") around components "B1" and "B2" is quite unsual - this is well visible on

2001-05-01

199

Cerebral arteriovenous malformation associated with moyamoya disease.  

PubMed

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

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

2014-10-01

200

Intraoperative embolization of cerebral arteriovenous malformations.  

PubMed

Nineteen patients with large cortical or deep seated cerebral arteriovenous malformation (AVM) were treated with intraoperative embolization using bucrylate (isobutyl-2-cyanoacrylate, IBC). In three cases of medium-sized AVM, the procedure was followed by a total excision of the lesion during the same operation. The results were excellent. In one case a hematoma and brain swelling following embolization necessitated total removal immediately afterwards. In eight patients embolization was carried out in two or three stages, to achieve a gradual obliteration of the shunt and to diminish the risk of postoperative brain swelling. Nevertheless, in three of these patients, postoperative hemiplegia was seen, which, however, improved considerably over a 1-2 year period. Complete occlusion of the shunt was obtained in only two patients. Seven patients underwent single-stage embolization, which resulted in partial obliteration of the AVM in six of them. In two of these, this treatment had been proposed for the accompanying symptoms of seizures and ischemic attacks. In all but one case the epileptic seizures decreased or disappeared completely after embolization. One patient suffered intracerebral bleeding three months after partial obliteration. Mortality was zero. It is argued that an alteration of the cerebral circulation with subsequent hyperemia is the most important sequela of rapid obliteration of large AVMs. Some details concerning the structure of cerebral AVMs are discussed. PMID:3736906

van Alphen, H A

1986-01-01

201

[Laparoscopic surgical treatment of anorectal malformations].  

PubMed

Anorectal Malformations (ARM) include a wide spectrum of anomalies, ranging from anal and rectal agenesis (usually associated with a recto-urethral, rectovaginal or recto-vestibular fistula) to ano-cutaneous fistula. On the basis of studies on the anatomy of the muscular structures contained in the pelvic cavity and on the physiology of the mechanisms which regulate the continence, many different techniques have been performed to allow a surgical treatment for the ARMs and to obtain post-operative results as nearer as possible to normality, that is to an adequate colic motility and a defecation control. In 2000, a new surgical technique for high and intermediate ARMs has been introduced, the laparoscopically assisted ano-rectal pull-through (LAARP) according to Georgeson. At the Department of Pediatric Surgery, Bologna University, from 2000 to nowadays, we have treated with LAARP 7 cases of high ARMs, all male patients and with colostomy. The average age at operation was between 2 and 10 months. PMID:17533901

Lima, M; Antonellini, C; Ruggeri, G; Libri, M; Gargano, T; Mondardini, M C

2006-01-01

202

Melatonin lowers edema after spinal cord injury  

PubMed Central

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

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

2014-01-01

203

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...

204

Baryogenesis through split Higgsogenesis  

NASA Astrophysics Data System (ADS)

We study the cosmological evolution of asymmetries in the two-Higgs doublet extension of the Standard Model, prior to the electroweak phase transition. If Higgs flavour-exchanging interactions are sufficiently slow, then a relative asymmetry among the Higgs doublets corresponds to an effectively conserved quantum number. Since the magnitude of the Higgs couplings depends on the choice of basis in the Higgs doublet space, we attempt to formulate basis-independent out-of-equilibrium conditions. We show that an initial asymmetry between the Higgs scalars, which could be generated by CP violation in the Higgs sector, will be transformed into a baryon asymmetry by the sphalerons, without the need of B - L violation. This novel mechanism of baryogenesis through (split) Higgsogenesis is exemplified with simple scenarios based on the out-of-equilibrium decay of heavy singlet scalar fields into the Higgs doublets.

Davidson, Sacha; Felipe, Ricardo González; Serôdio, Hugo; Silva, João P.

2013-11-01

205

Epidemiology and natural history of arteriovenous malformations.  

PubMed

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

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

2001-01-01

206

Two-photon fluorescent imaging of myelination in the spinal cord.  

PubMed

Myelination is a fundamental biological process in the vertebrate nervous system. Damage to or malformation of myelin can lead to various neurological diseases; for example, demyelination in the spinal cord is a major cause of paralysis of patients suffering from multiple sclerosis and related diseases. The ability to directly track myelin levels in the spinal cord is needed in order to assess the efficacy of therapeutics in promoting myelin repair. To address this unmet need, 4-((E)-4-((E)-4-aminostyryl)-2,5-dimethoxystyryl)-N-methylaniline, known as Case Imaging Compound (CIC), has been developed as a myelin-targeted fluorescent imaging agent that selectively binds to myelin. CIC was synthesized via an improved route and evaluated as a fluorescent probe for two-photon fluorescent imaging of myelin in the spinal cord in both demyelinated and dysmyelinated models. In vitro and ex vivo tissue staining both suggest that CIC selectively binds to in animal models. Further evaluation in animal models indicated that CIC is sensitive to differences in myelin content in healthy versus pathological myelin. CIC could potentially be useful in the development and evaluation of novel therapies for multiple sclerosis and other demyelinating diseases. PMID:23136014

Condie, Allison G; Gerson, Stanton L; Miller, Robert H; Wang, Yanming

2012-12-01

207

Local Model of Arteriovenous Malformation of the Human Brain  

NASA Astrophysics Data System (ADS)

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.

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

2013-02-01

208

Anorectal Malformations Associated with Esophageal Atresia in Neonates  

PubMed Central

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

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

2013-01-01

209

Neuroimaging of Dandy-Walker malformation: new concepts.  

PubMed

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

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

2011-12-01

210

Split supersymmetry radiates flavor  

NASA Astrophysics Data System (ADS)

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

Baumgart, Matthew; Stolarski, Daniel; Zorawski, Thomas

2014-09-01

211

Sex Cord-Stromal Tumors  

Microsoft Academic Search

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

Jubilee Brown; David M. Gershenson

212

Cutaneous vascular malformation in a guinea pig (Cavia porcellus).  

PubMed

A skin lesion classified as a vascular malformation is reported in a young-adult, female guinea pig. The physical examination revealed a 3 x 2-cm irregularly shaped violaceous plaque located on the left caudal flank. The surface of the plaque was ulcerated and bled intermittently, resulting in fatal blood loss. On histology the mass consisted of variably sized vascular spaces filled with red blood cells and variable amounts of extramedullary haematopoietic cells, lined by well-differentiated endothelial cells often surrounded by one layer of spindle-shaped cells. Based on immunohistochemistry, the spindle cell population was confirmed to be smooth muscle cells and no proliferation of endothelial cells was found with the Ki67 proliferation marker. Histological and immunohistochemical findings were consistent with a vascular malformation. Classification of vascular malformations and potential treatments are discussed. To the authors' knowledge, this is the first reported case of a cutaneous vascular lesion in a guinea pig. PMID:14989706

Osofsky, Anna; De Cock, Hilde E V; Tell, Lisa A; Norris, Aimee J; White, Stephen D

2004-02-01

213

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

PubMed

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

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

2010-11-01

214

[Congenital malformations of the lung, the radiologist's point of view].  

PubMed

Congenital lung malformations include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. They may, however, be discovered later, incidentally or in connection with non-specific symptoms, sometimes severe. Knowledge of their radiological appearances is necessary for their detection. Proper technique and analysis of cross-sectional imaging, computed tomography and magnetic resonance imaging, allow a definitive diagnosis in most patients and pre-treatment evaluation of surgical cases. This review will describe the radiological aspects of congenital pulmonary malformations, especially those which may occur in late childhood or adult life. When present, alternative diagnoses will be discussed. A distinction will be made between anomalies originating from bronchopulmonary structures, such as bronchial atresia, bronchogenic cyst, congenital lobar overinflation, cystic adenomatoid malformation, and forms related to vascular anomalies (vascular rings, anomalous left pulmonary artery, pulmonary underdevelopment, proximal interruption of the pulmonary artery, pulmonary sequestration, scimitar syndrome). PMID:22742469

Berteloot, L; Bobbio, A; Millischer-Bellaïche, A-E; Lambot, K; Breton, S; Brunelle, F

2012-06-01

215

Split-illumination electron holography  

SciTech Connect

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

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

2012-07-23

216

Management of scrotal arteriovenous malformation with transcatheter embolisation coils and percutaneous sclerotherapy under angiographic guidance.  

PubMed

Arteriovenous malformations of the scrotum are infrequent and are usually treated by a combination of endovascular embolisation and surgery. We present a case of scrotal arteriovenous malformation treated effectively by a combination of endovascular and direct percutaneous techniques. PMID:25492446

So, Wing Lung Alvin; Chaganti, Joga; Waugh, Richard; Ferguson, Richard J

2014-12-10

217

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 ...

218

Pulmonary arteriovenous malformations presenting as refractory heart failure  

PubMed Central

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

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

2014-01-01

219

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

PubMed Central

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

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

2013-01-01

220

Prenatal diagnosis of congenital renal and urinary tract malformations  

PubMed Central

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

Hindryckx, A.; De Catte, L.

2011-01-01

221

Uncommon cavernous malformation of the optic chiasm: a case report  

PubMed Central

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

2012-01-01

222

Maternal smoking habits and congenital malformations: a population study.  

PubMed Central

Maternal smoking habits in 67 609 singleton pregnancies were examined. The overall incidence of congenital malformations was 2.8% in both non-smokers and smokers. On analysing congenital defects according to individual systems there was no significant difference in the incidence of malformations according to the number of cigarettes smoked, except for neural tube defects. Further analysis, taking social class into account, showed that neural tube defects were less common in non-smokers in social classes I and II. This study suggests that maternal smoking does not have teratogenic effects in the offspring, except in the case of neural tube defects, where the effect is at most modest. PMID:466337

Evans, D R; Newcombe, R G; Campbell, H

1979-01-01

223

General Information About Staging Childhood Brain and Spinal Cord Tumors  

MedlinePLUS

General Information About Childhood Brain and Spinal Cord Tumors A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. There are many types of ...

224

Testosterone Plus Finasteride Treatment After Spinal Cord Injury  

ClinicalTrials.gov

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

2014-09-22

225

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis  

PubMed Central

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of severe cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed.???Keywords: arteriovenous malformation; cystic fibrosis PMID:10435171

Ledson, M; Wahbi, Z; Harris, P; Walshaw, M

1999-01-01

226

Congenital bilateral perisylvian syndrome (CBPS): do concomitant esophageal malformations indicate a poor prognosis?  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early prenatal injury, characterised by a bad prognosis due to severe cortical disorganization. However, it can not be excluded that the association of CBPS and esophageal malformation is purely coincidental. PMID:11508551

Küker, W; Friese, S; Riethmüller, J; Krägeloh-Mann, I

2000-12-01

227

French Broadcasting After the Split  

ERIC Educational Resources Information Center

In 1975 the broadcast industry in France was split into four independent program societies and three support societies, all seeking dominance of the TV ratings. Documentation of the current situation and an examination of broadcast policy is presented. (RAO)

Hollstein, Milton

1978-01-01

228

Energy splitting in dynamical tunneling  

NASA Astrophysics Data System (ADS)

We propose an operator method for calculating the semiclassical asymptotic form of the energy splitting value in the general case of tunneling between symmetric orbits in the phase space. We use this approach in the case of a particle on a circle to obtain the asymptotic form of the energy tunneling splitting related to the over-barrier reflection from the potential. As an example, we consider the quantum pendulum in the rotor regime.

Vybornyi, E. V.

2014-11-01

229

[Coexistence of pulmonary sequestration and congenital cystic adenomatoid malformation. Case report and review of literature].  

PubMed

This paper presents a case report of an infant, with a prenatally diagnosed congenital lung malformation, which proved to be pulmonary sequestration and congenital cystic adenomatoid malformation. The authors discuss current knowledge on diagnosis, clinical course and suggestions of ante- and postnatal management of patients with pulmonary sequestration or/and congenital cystic lung malformation. PMID:24964242

Sanocki, Marcin Tomasz; Dudek, Anna; Krenke, Katarzyna; Karolczak, Maciej; Motylewicz, Barbara; Kulus, Marek

2014-01-01

230

Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations  

Microsoft Academic Search

Hereditary hemorrhagic telangiectasia (HHT) is a heterogeneous disease that can present with a variety of clinical manifestations. The neurovascular complications of this disease, especially in children, may be potentially devastating. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 patients under the age of 16 were

T. Krings; S. M. Chng; A. Ozanne; H. Alvarez; G. Rodesch; P. L. Lasjaunias

2005-01-01

231

Anorectal malformations associated with a presacral tumor and sacral defect  

Microsoft Academic Search

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An

Yoshiaki Tsuchida; Watit Watanasupt; Toshio Nakajo

1989-01-01

232

The role of colostomy in the management of anorectal malformations  

Microsoft Academic Search

The role of the colostomy in the definitive correction of anorectal malformations is controversial with regard no only to indications for its use, but also to location and type. We reviewed the records of 272 patients with 307 colostomies and analyzed the frequency of complications related to these controversial points. There were 250 completely divided and 57 loop colostomies, constructed

Steven Wilkins; Alberto Pefia

1988-01-01

233

Macrocephaly-capillary malformation syndrome: three new cases.  

PubMed

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

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

2012-02-15

234

Surgical treatment of venous malformations in Klippel-Trénaunay syndrome  

Microsoft Academic Search

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

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

2000-01-01

235

Congenital Malformations and Birthweight in Areas with Potential Environmental Contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris

1992-01-01

236

Congenital malformations and birthweight in areas with potential environmental contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins

2009-01-01

237

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation  

PubMed Central

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

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

2005-01-01

238

LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE  

EPA Science Inventory

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

239

Magnetic resonance imaging in the malformative syndromes with mental retardation  

Microsoft Academic Search

We reported on thirteen children affected with malformative syndromes associated with mental retardation. MRI examination showed in all of them different types of anomalies; agenesis of corpus callosum, ventricular dilatation and cerebral matter alterations were the most frequent findings. The authors give a brief description of the clinical reports and of the anomalies observed with MRI; they conclude that MRI

O. Gabrielli; U. Salvolini; G. V. Coppa; C. Catassi; R. Rossi; A. Manca; R. Lanza; P. L. Giorgi

1990-01-01

240

Polymicrogyria: a common and heterogeneous malformation of cortical development.  

PubMed

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

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

241

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation  

E-print Network

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation in the Sultanate of Oman in the beginning of 2005 in plantations at Sohar in the Sultanate of Oman. The affected inflorescences were factor 1 . -tubulin Mango (Mangifera indica) is an important perennial crop in the Sultanate of Oman

242

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

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

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

243

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

PubMed

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

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-04-01

244

Radiological anatomy of the vascularization of cranial dural arteriovenous malformations  

Microsoft Academic Search

Summary Knowledge of the radiological anatomy of the cranial durai vascularization allows a flexible and appropriate approach to the pretherapeutic investigation of cranial durai arteriovenous malformations. The variability of the origin of these arteries requires that several possible sources of vascular supply be investigated — internal carotid, internal maxillary, ascending pharyngeal, occipital and vertebral — and that each of their

P. Lasjaunias; L. Lopez-Ibor; A. Abanou; Ph. Halimi

1984-01-01

245

Recurrent Arteriovenous Malformation of the Scrotum Secondary to Pelvic Trauma  

Microsoft Academic Search

We describe a case of recurrent scrotal arteriovenous malformation (AVM) in a young man secondary to pelvic fracture sustained during a road traffic accident. This was diagnosed as a lipoma on the ultrasound and clinical examination. To our knowledge, this is the first reported case of recurrent scrotal AVM secondary to trauma.

Vineet Agrawal; Pankaj Dangle; Suks Minhas; David Ralph; Nim Christopher

2006-01-01

246

Rolandic arteriovenous malformations: improvement in limb function by IBC embolization.  

PubMed

Three patients with arteriovenous malformations in the rolandic region and significant limb deficit showed virtually complete functional recovery after awake operative embolization of most of the malformations using isobutyl-2 cyanoacrylate. Two of these patients, with functionally useless hands, had sustained the deficits months earlier as the result of a specific brain-damaging event: one as a result of surgery and the other as a result of a hemorrhage. Both of these showed significant return of function during the awake operative embolization procedure. The other patient had had progressive leg weakness over a 2 year period. The theory of steal phenomenon as an explanation for progressive neurologic deficits in association with large arteriovenous malformations must be extended to explain apparently stable deficits after some brain trauma (surgery or hemorrhage). These results suggest that some patients with arteriovenous malformations and without clinical deficits who are near a critical level of "near ischemia" may be thrown out of balance by an acute interceding event. PMID:3927674

Fox, A J; Girvin, J P; Viñuela, F; Drake, C G

1985-01-01

247

Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

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

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

2007-11-15

248

Recovery after spinal cord infarcts  

PubMed Central

Objective: To investigate the long-term outcome of patients with spinal cord infarct (SCI) and identify prognostic predictors. Methods: We reviewed 115 patients with SCI treated between 1990 and 2007. Severity of impairment was defined using the American Spinal Injury Association (ASIA) scoring. Functional outcome endpoints were ambulatory status, need for bladder catheterization, and pain. Results: Mean age was 64 years; 72 (62.6%) patients were men. A total of 45% of infarcts were perioperative (69% aortic surgeries). A total of 68% reached maximal deficit within 1 hour (mean = 5 hours). Impairment at nadir was ASIA A 23%, B 26%, C 14%, and D 37%. A total of 75/93 (81%) patients studied with MRI had cord signal abnormality. At nadir, 81% required wheelchair, 86% required catheterization, and 32% had pain. At last follow-up (mean = 3 years), 23% had died. Among survivors, 42% required a wheelchair, 54% required catheterization, and 29% had pain upon last follow-up. Of 74 patients using a wheelchair at hospital dismissal, 41% were walking by final follow-up. Of 83 patients catheterized at dismissal, 33% were catheter-free at last follow-up. Older age (p < 0.0001), increased severity of impairment at nadir (p = 0.02), and peripheral vascular disease (p = 0.003) were independent risk factors for mortality. Severe impairment (ASIA A/B) at nadir predicted wheelchair use (p < 0.0001) and bladder catheterization (p < 0.0001) at last follow-up. Conclusions: Gradual improvement in not uncommon after spinal cord infarction and it may continue long after hospital dismissal. While severe impairment at nadir is the strongest predictor of poor functional outcome, meaningful recovery is also possible in a substantial minority of these patients. PMID:22205760

Robertson, Carrie E.; Brown, Robert D.; Wijdicks, Eelco F.M.

2012-01-01

249

Tuberculous spinal cord compression in pregnancy  

Microsoft Academic Search

A case of tuberculous spinal cord compression causing acute paraparesis in a pregnant woman of 33 weeks gestation is described. Immediate Caesarean section followed by aggressive surgical decompression of the spine via an anterior approach with reconstruction achieved a good outcome for mother and fetus. The management of tuberculous spinal cord compression in pregnancy is discussed, with particular reference to

J. V Rosenfeld; E. I Torey; M. S Michael; M. M Johnson

1998-01-01

250

Spinal Cord Astrocytomas: Presentation, Management and Outcome  

Microsoft Academic Search

Intramedullary spinal cord astrocytomas are uncommon tumors. They are the most common spinal cord tumor in children and in adults are second only to ependymomas in frequency of occurrence. Low-grade histology predominates with high-grade lesions comprising only ten to fifteen percent of pediatric tumors and a slightly higher proportion in adults. Presenting symptoms typically evolve over months to years with

John K. Houten; Paul R. Cooper

2000-01-01

251

Family-directed umbilical cord blood banking  

PubMed Central

Umbilical cord blood transplantation from HLA-identical siblings provides good results in children. These results support targeted efforts to bank family cord blood units that can be used for a sibling diagnosed with a disease which can be cured by allogeneic hematopoietic stem cell transplantation or for research that investigates the use of allogeneic or autologous cord blood cells. Over 500 patients transplanted with related cord blood units have been reported to the Eurocord registry with a 4-year overall survival of 91% for patients with non-malignant diseases and 56% for patients with malignant diseases. Main hematologic indications in children are leukemia, hemoglobinopathies or inherited hematologic, immunological or metabolic disorders. However, family-directed cord blood banking is not widely promoted; many cord blood units used in sibling transplantation have been obtained from private banks that do not meet the necessary criteria required to store these units. Marketing by private banks who predominantly store autologous cord blood units has created public confusion. There are very few current validated indications for autologous storage but some new indications might appear in the future. Little effort is devoted to provide unbiased information and to educate the public as to the distinction between the different types of banking, economic models and standards involved in such programs. In order to provide a better service for families in need, directed-family cord blood banking activities should be encouraged and closely monitored with common standards, and better information on current and future indications should be made available. PMID:21750089

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

2011-01-01

252

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

PubMed Central

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

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

253

Time to implement delayed cord clamping.  

PubMed

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

McAdams, Ryan M

2014-03-01

254

The rationale behind collecting umbilical cord blood.  

PubMed

Umbilical cord blood (UCB) is an increasingly important and rich source of stem cells. These cells can be used for the treatment of many diseases, including cancers and immune and genetic disorders. For patients for whom no suitable related donor is available, this source of hematopoietic stem cells offers substantial advantages, notably the relative ease of procurement, the absence of risk to the donor, the small likelihood of transmitting clinically important infections, the low risk of severe graft-versus-host disease (GVHD) and the rapid availability of placental blood for transplantation centers. Even though almost 80 diseases are treatable with cord blood stem cells, 97 percent of cord blood is still disposed of after birth and lost for patients in need! To improve availability of stem cells to a broader community, efforts should be undertaken to collect cord blood and expectant parents should be properly informed of their options with regard to cord blood banking. PMID:24591908

Zech, Nicolas H; Broer, Nikolas; Ribitsch, Iris; Zech, Mathias H; Broer, Karl-Heinz; Ertan, Kubilay; Preisegger, Karl-Heinz

2010-01-01

255

Spinal Cord Ischemia Secondary to Hypovolemic Shock  

PubMed Central

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

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

2014-01-01

256

Use of Umbilical Cord Serum in Ophthalmology  

PubMed Central

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

2014-01-01

257

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

SciTech Connect

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

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

2013-10-15

258

Rehabilitation of spinal cord injuries.  

PubMed

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

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

2015-01-18

259

Rehabilitation of spinal cord injuries  

PubMed Central

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

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

2015-01-01

260

Biphasic water splitting by osmocene  

PubMed Central

The photochemical reactivity of osmocene in a biphasic water-organic solvent system has been investigated to probe its water splitting properties. The photoreduction of aqueous protons to hydrogen under anaerobic conditions induced by osmocene dissolved in 1,2-dichloroethane and the subsequent water splitting by the osmocenium metal-metal dimer formed during H2 production were studied by electrochemical methods, UV-visible spectrometry, gas chromatography, and nuclear magnetic resonance spectroscopy. Density functional theory computations were used to validate the reaction pathways. PMID:22665787

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

2012-01-01

261

Level splitting at macroscopic scale.  

PubMed

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

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

2012-06-29

262

CHRONIC PAIN FOLLOWING SPINAL CORD INJURY  

PubMed Central

Most patients with insults to the spinal cord or central nervous system suffer from excruciating, unrelenting, chronic pain that is largely resistant to treatment. This condition affects a large percentage of spinal cord injury patients, and numerous patients with multiple sclerosis, stroke and other conditions. Despite the recent advances in basic science and clinical research the pathophysiological mechanisms of pain following spinal cord injury remain unknown. Here we describe a novel mechanism of loss of inhibition within the thalamus that may predispose for the development of this chronic pain and discuss a potential treatment that may restore inhibition and ameliorate pain. PMID:23281514

Masri, Radi; Keller, Asaf

2013-01-01

263

Relativistic electron drift shell splitting  

Microsoft Academic Search

A survey of equatorial outer radiation belt relativistic electron pitch angle distributions measured on the Polar satellite shows anisotropies that are consistent with the effects of drift shell splitting. Simulations based on the observed radial intensity gradients and on drift shell calculations in a magnetospheric field model show that for low geomagnetic activity levels, the measured average anisotropies are similar

R. S. Selesnick; J. B. Blake

2002-01-01

264

Generalized Forward-Backward Splitting  

E-print Network

Dec 19, 2011 ... ... e.g. the l1-norm of coefficients in a wisely chosen dictionary [49], or total ... tors explains the popularity of proximal splitting schemes in imaging science. ..... Now that we have set all necessary material, we are ready to solve ...

2011-12-19

265

Tethered cord: natural history, surgical outcome and risk for Chiari malformation 1 (CM1): a review of 110 detethering.  

PubMed

The surgical results of this series of occult spina bifida seem better than the natural history registered in the long pre-operative period in terms of neurological deterioration. The major contribution to this result is attributed to neurophysiological monitoring that lowers the risks of permanent damage and increases the percentage of effective detethering. The present series of TCS, due to conus and filar lipoma, documents that CM1 is a really rare association occurring in less than 6% of the patients, despite the low position of conus. The detethering procedure did not influence the tonsillar position, thus excluding the correlation between the tethering and the tonsillar descent. The genetic alteration documented in a girl reinforces the hypothesis of a rare complex polymaformative picture deserving multiple procedures according to the prevailing clinical symptoms. PMID:21922314

Valentini, Laura Grazia; Selvaggio, Giorgio; Visintini, Sergio; Erbetta, Alessandra; Scaioli, Vidmer; Solero, Carlo Lazzaro

2011-12-01

266

Variability in CD34+ Cell Counts in Umbilical Cord Blood:Implications for Cord Blood Transplants  

Microsoft Academic Search

Objective: To determine if total nucleated cell counts alone are sufficient for predicting the efficacy of cord blood units for transplant from neonatal umbilical cord blood samples. Methods: Umbilical cord blood samples were collected from 200 mothers at delivery and the cord blood units processed. The total nucleated cells and CD34+ cells were enumerated and compared for each sample. Results:

C. Yap; M. T. Loh; K. K. Heng; P. Tan; S. L. Yu; S. H. Chan; E. C. Ren

2000-01-01

267

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

PubMed

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

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

2012-08-01

268

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment  

PubMed Central

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

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

2015-01-01

269

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

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

2011-01-01

270

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation  

PubMed Central

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

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

2012-01-01

271

An investigation into the effect of joint frequency and spatial positioning on pre-splitting  

SciTech Connect

Pre-splitting is now widely used to minimize overbreak and to protect final surface rock excavation profiles in large scale civil construction projects, open pit mining and quarrying. Jointing has been shown to affect the success of pre-splitting and the smoothness and integrity of the resulting rock face. Many facets of jointing have been investigated in detail, including the inclination of joints with respect to the desired pre-split plane, the effects of various filling materials, etc. However, the effects of joint frequency and spatial positioning has been paid little attention. The paper addresses this issue. The results of experimental model testing carried out in concrete blocks are presented. The program consisted of modeling closed joints with varying frequency between two 3/8 inch boreholes, drilled in 12 x 9 x 6 inch concrete blocks charged with 15 grains per foot PETN cord. It was found that by increasing the joint frequency from zero to two between boreholes decreases the maximum successful split-hole spacing. However, with increasing joint frequency the trend is reversed. These results are attributed to the overall rock mass being weakened by the slabs between the discontinuities becoming thinner with increasing discontinuity frequency. It was also revealed that the spatial positioning of discontinuities plays an important role in pre-split formation and integrity.

Tariq, S.M.; Worsey, P.N. [Univ. of Missouri, Rolla, MO (United States)

1995-12-31

272

[Iliac vessels malformations as a cause of gluteal varices].  

PubMed

Gluteal varices are caused by different malformations (congenital or other disorders) within pelvic vessels. They are usually congenital, rarely acquired disorders. The rarity of incidence, diagnostic difficulties and sometimes ineffective methods of treatment made the authors of this article to present a case of 51-year-old patient with hemorrhoids with concomitant left gluteal varices caused by internal iliac artery-vein fistula. PMID:18175563

Rudnicki, Piotr; Mazur, Ireneusz; Sosada, Krystyn; Koz?owski, Andrzej; Jopek, Janusz; Sitkiewicz, Tomasz

2007-01-01

273

Characteristics influencing informed consent on a congenital malformations registry.  

PubMed Central

Maryland law requires that all babies born with "sentinel birth defects" be reported to the State Department of Health, but mothers may deny consent for further contact. Consent was not strongly related to maternal age, race, or self-reported data on exposures, smoking, and drugs but was much less likely if the infant was dead. Selection bias in congenital malformations research may lead to underrepresentation of lethal defects, but self-reported data appear to be unbiased. PMID:3354744

Law, C; Robertson, M O; Panny, S R; Wulff, L M

1988-01-01

274

Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities  

Microsoft Academic Search

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

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

1993-01-01

275

An interesting finding in a congenital cystic adenomatoid malformation.  

PubMed

Here we describe a case of antenatally diagnosed congenital cystic adenomatoid malformation. Due to increasing cyst size and fetal hydrops an antenatal drain was inserted. The lesion was excised surgically soon after birth due to significant respiratory distress. During histological assessment an area of squamous metaplasia was found within the cyst wall. This developed as a result of the drain placement. At 4-year follow-up the child remains well and has experienced no long-term respiratory sequalae. PMID:23093507

Jones, Katherine Elizabeth; Teo, Ying; Lakhoo, Kokila

2012-01-01

276

Congestive hepatopathy secondary to large renal arteriovenous malformation  

PubMed Central

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

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

2013-01-01

277

[Medication-based therapy of infantile hemangioma and lymphatic malformations].  

PubMed

The therapy of vascular tumors and malformations should be interdisciplinary and performed according to available guidelines. Infantile hemangiomas (IH) are the most frequent vascular tumors of childhood and do not require treatment in most cases. If the IH is complicated by its location (e.g. facial or genital) or if the lesion threatens to cause loss of function, small localized IH should be treated by laser- or cryotherapy. If the IH is diffuse or rapidly growing it can be successfully treated using the ? blocker propranolol. The mechanism underlying the efficacy of this medication-based therapy is not completely understood and this still represents an experimental therapy. The results of molecular studies on vascular malformations have indicated new strategies for medical therapies. However, lymphatic malformations (LM) are still treated by surgery where possible, or sclerotherapy. Further investigations are necessary to determine whether new drugs such as the mTOR inhibitor rapamycin may be effective for treatment of diffuse LM. First case reports seem to be promising. PMID:24434958

Rössler, J; Braunschweiger, F; Schill, T

2014-01-01

278

Guidelines for the treatment of head and neck venous malformations  

PubMed Central

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

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

2013-01-01

279

Prenatal diagnosis of lethal fetal malformation in Irish obstetric practice.  

PubMed

The diagnosis of lethal fetal malformation prenatally has profound implications for the pregnancy, the expectant couple and the medical care provided. The aim of this study was to investigate these implications and the medical factors pertaining to prenatal diagnosis of lethal fetal abnormality in current obstetric practice in Ireland. Data was collected prospectively from all cases of lethal fetal malformation diagnosed at the Fetal Medicine Unit, University College Hospital Galway from December 1997 to June 1998 inclusive. Diagnosis was made on the basis of ultrasound findings and invasive procedures (amniocentesis and chorionic villus sampling). Thirteen cases of lethal fetal abnormality were diagnosed: Edward's syndrome, Patau's syndrome, bilateral multicystic renal dysplasia, Potters sequence, hypoplastic left heart, anencephaly with craniorrhachischisis, lethal osteogenesis imperfecta and non-immune hydrops. Intrauterine death occurred in four cases. Four women had preterm complications e.g. preterm premature rupture of membranes, preterm labour, placental abruption, coagulopathy and severe pre-eclampsia. Three pregnancies progressed to term, two of which had a vaginal delivery and one had an elective caesarean section for malpresentation, all of which were early neonatal deaths. Three women chose to travel abroad in order to obtain a termination of pregnancy. Obstetric and neonatal dilemmas in management of lethal fetal malformation are discussed. PMID:10360111

Byrne, B M; Morrison, J J

1999-03-01

280

The malformations of the urinary system in autosomal disorders.  

PubMed

Data from the world literature about the pathology of the urinary system in autosomal chromosomal disorders are analyzed and compared with our own morphological investigations of this system in 63 cases of chromosomal disorders (Patau's, Edwards', Down's, Orbeli's, Wolf-Hirschhorn's syndromes, partial trisomy B and inversion of chromosome 2). The urinary system is most frequently involved in "cat-eye", triploidy, Orbeli's, Patau's and Edwards' syndromes. All known malformations of the urinary system are observed in children with chromosomal diseases, except infantile polycystic kidney and medullary "sponge" kidney. The authors recognize specific and nonspecific abnormalities of the urinary system. Nonspecific abnormalities, as simple renal dysgenesis, may be observed in all chromosomal disorders. Specific abnormalities are found only in certain chromosomal diseases. These malformations are an excess of embryonal lobulation of the kidney with the increase of its weight and cystic changes (Patau's syndrome), crossed renal ectopy with fusion and horseshoe kidney (Edwards' syndrome), unilateral renal agenesis (Orbeli's syndrome), hypospadia (Wolf-Hirschhorn's syndrome). A possible pathogenesis of malformations of the urinary system in chromosomal disorders is discussed. PMID:127413

Kravtzova, G I; Lazjuk, G I; Lurie, I W

1975-10-20

281

Computational modelling for the embolization of brain arteriovenous malformations.  

PubMed

Treatment of arteriovenous malformations (AVMs) of the brain often requires the injection of a liquid embolic material to reduce blood flow through the malformation. The type of the liquid and the location of injection have to be carefully planned in a pre-operative manner. We introduce a new model of the interaction of liquid embolic materials with blood for the simulation of their propagation and solidification in the AVM. Solidification is mimicked by an increase of the material's viscosity. Propagation is modelled by using the concept of two-fluids modelling and that of scalar transport. The method is tested on digital phantoms and on one anatomically derived patient AVM case. Simulations showed that intuitive behaviour of the two-fluid system can be confirmed and that two types of glue propagation through the malformation can be reproduced. Distinction between the two types of propagation could be used to identify fistulous and plexiform compartments composing the AVM and to characterize the solidification of the embolic material in them. PMID:22056793

Orlowski, Piotr; Summers, Paul; Noble, J Alison; Byrne, James; Ventikos, Yiannis

2012-09-01

282

Maternal smoking and congenital malformations: an epidemiological study.  

PubMed Central

In a case-control study undertaken in several hospitals in Connecticut, it was found that women who reported smoking more than 20 cigarettes a day during pregnancy had a relative risk of about 1.6 for congenital malformations in the offspring of that pregnancy compared with women who said they had not smoked at all during pregnancy. However, there was no significant increase in risk among women who reported smoking 20 or fewer cigarettes a day during pregnancy compared with those who said they had not smoked at all during pregnancy. The higher risk among moderate and heavy smokers could not be attributed to any of the potentially confounding variables considered in this study; furthermore, it was specific to smoking during pregnancy rather than before pregnancy, and increased with the average amount smoked a day. Nevertheless, because the increase in risk was modest, because response bias could exist in a study of this type, and because no other studies have examined in detail the smoking-congenital malformation hypothesis, further research is needed to determine whether the relationship between maternal smoking and congenital malformations in offspring is causal. PMID:355285

Kelsey, J L; Dwyer, T; Holford, T R; Bracken, M B

1978-01-01

283

Cool covered sky-splitting spectrum-splitting FK  

NASA Astrophysics Data System (ADS)

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

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

2014-09-01

284

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 ...

285

Interactive Fly: CNS and Ventral Cord Genes  

NSDL National Science Digital Library

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

PhD Thomas B Brody (NIH Laboratory of Neurochemistry)

2006-12-13

286

Transplant Outcomes (Bone Marrow and Cord Blood)  

MedlinePLUS

... survival and transplant data of bone marrow and umbilical cord blood transplants in the transplant outcomes registry of the C.W. Bill Young Cell Transplantation Program (Program), also called the Stem Cell Therapeutic ...

287

Spinal cord implants for nerve regeneration  

E-print Network

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

Abbaschian, Lara Suzanne, 1979-

2004-01-01

288

Pain Management Following Spinal Cord Injury  

MedlinePLUS

... signals are Rehabilitation Research and Training Center on Secondary Conditions of SCI & Model SCI Care Center Spinal Cord Injury InfoSheet 10 Level - Consumer Pain Management following Spinal ...

289

Problems in Umbilical Cord Blood Collection  

Microsoft Academic Search

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

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

2007-01-01

290

Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.  

PubMed

Cerebral cavernous malformations (CCM) are congenital vascular anomalies predominantly of the central nervous system but may include lesions in other tissues such as the retina, skin, and liver. These hamartomatous dysplasias, generally occurring sporadically, consist of dynamic clustered convoluted capillary cavities without intervening brain parenchyma that may lead to headaches, seizures, paresis, cerebral hemorrhages and focal neurological deficits. Familial forms of CCM, inherited in an autosomal dominant manner with incomplete penetrance and variable expression, are attributed to mutations in three genes, CCM1, CCM2 and CCM3. Here, we report a kindred of Persian descent exhibiting a range of clinical symptoms and features that include seizures, multiple lesions of the brain and spinal cord, and severe hyperkeratotic cutaneous capillary-venous malformations. Sanger DNA sequencing and deletion/duplication testing of the CCM1, CCM2, and CCM3 genes in the proband revealed a CCM1 c.601C>G mutation. Targeted mutation analysis in family members confirmed that this mutation segregated with the disease in the family. This family illustrates the phenotypic heterogeneity that has been observed in other reported CCM-pedigrees and highlights the importance of genetic testing for early diagnosis in familial CCM. To our knowledge, this is the first genetic investigation of CCM in the Persian population. PMID:24007869

Haghighi, Alireza; Fathi, Davood; Shahbazi, Majid; Motahari, Mohammad-Mahdy; Friedman, Bethany

2013-11-15

291

7 CFR 51.2002 - Split shell.  

Code of Federal Regulations, 2013 CFR

...2002 Split shell. Split shell means a shell having any crack which is open and conspicuous for a distance of more than one-fourth the circumference of the shell, measured in the direction of the...

2013-01-01

292

7 CFR 51.2002 - Split shell.  

Code of Federal Regulations, 2010 CFR

...2002 Split shell. Split shell means a shell having any crack which is open and conspicuous for a distance of more than one-fourth the circumference of the shell, measured in the direction of the...

2010-01-01

293

7 CFR 51.2002 - Split shell.  

...2002 Split shell. Split shell means a shell having any crack which is open and conspicuous for a distance of more than one-fourth the circumference of the shell, measured in the direction of the...

2014-01-01

294

7 CFR 51.2002 - Split shell.  

Code of Federal Regulations, 2011 CFR

...2002 Split shell. Split shell means a shell having any crack which is open and conspicuous for a distance of more than one-fourth the circumference of the shell, measured in the direction of the...

2011-01-01

295

7 CFR 51.2958 - Splits.  

Code of Federal Regulations, 2010 CFR

...INSPECTION, CERTIFICATION, AND STANDARDS) United States Standards for Grades of Walnuts in the Shell Definitions § 51.2958 Splits. Splits means walnuts with the seam opened completely around the nut so that the two halves of the...

2010-01-01

296

7 CFR 51.2736 - Split.  

Code of Federal Regulations, 2010 CFR

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

2010-01-01

297

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

SciTech Connect

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.

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

1999-12-01

298

Ventral nerve cord in Phoronopsis harmeri larvae.  

PubMed

The nervous system organization is considered a phylogenetically important character among metazoans. The phylum Phoronida is included in a supraphyletic taxon known as Lophotrochozoa. Many lophotrochozoans possess a metameric ventral nerve cord as adults or larvae. Phoronids do not exhibit external metamery either as larvae or as adults. The current study describes the ventral nerve cord in the young larva of Phoronopsis harmeri. This structure is apparent both in the serotonergic and FMRF-amidergic nervous system in young larvae. The ventral nerve cord extends from the mouth to the tentacular ridge. Both serotonergic and FMRF-amidergic components consist of two ventrolateral nerves, each with several unipolar neurons. The ventrolateral nerves connect to each other by means of thin repetitive transversal nerves ("commissures"). The abundance of neurons and nerves in the epidermis of the oral field of actinotrocha larva likely reflects the importance of this area in collection of food particles. The ventral nerve cords of the actinotrocha and the metatrochophore differ in their positions with respect to ciliated bands: the cord is located between the preoral and postoral ciliated bands in the actinotrocha but between the postoral ciliated band and telotroch in the metatrochophore. The presence of the ventral nerve cord, which contains repetitive elements (neurons and "commissures"), in the early development of P. harmeri may recapitulate some stages of nervous system development during phoronid phylogeny. The larval nervous system does not contain nervous centers under the tentacular ridge that can correlate with the catastrophic metamorphosis and unique body plan of phoronids. PMID:21898789

Temereva, Elena N

2012-01-15

299

Taxon Selection under Split Diversity.  

PubMed

The "phylogenetic diversity" (PD) measure of biodiversity is evaluated using a phylogenetic tree, usually inferred from morphological or molecular data. Consequently, it is vulnerable to errors in that tree, including those resulting from sampling error, model misspecification, or conflicting signals. To improve the robustness of PD, we can evaluate the measure using either a collection (or distribution) of trees or a phylogenetic network. Recently, it has been shown that these 2 approaches are equivalent but that the problem of maximizing PD in the general concept is NP-hard. In this study, we provide an efficient dynamic programming algorithm for maximizing PD when splits in the trees or network form a circular split system. We illustrate our method using a case study of game birds ("Galliformes") and discuss the different choices of taxa based on our approach and PD. PMID:20525611

Minh, Bui Quang; Klaere, Steffen; von Haeseler, Arndt

2009-12-01

300

Aortic Runoff as a Sign of Intracranial Arteriovenous Malformation: Report of Two Cases  

PubMed Central

Background Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. Case Presentation We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease. Conclusion Precise echocardiography revealed the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis. PMID:23724190

Moradian, Maryam; Nokhostin-Davari, Paridokht; Merajie, Mahmood; Pouraliakbar, Hamid-Reza

2013-01-01

301

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis.  

PubMed

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of sever cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed. PMID:10435171

Ledson, M J; Wahbi, Z; Harris, P; Walshaw, M J

1999-06-01

302

Primary intra osseous venous malformation of nasal bone: A rare case report  

PubMed Central

Primary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

Pati, Ajit Kumar; Nayak, Bibhuti Bhusan; Choudhury, Arun Kumar; Rout, Debesh Kumar

2014-01-01

303

REVIEW ARTICLE Vacuum Rabi splitting in semiconductors  

E-print Network

REVIEW ARTICLE Vacuum Rabi splitting in semiconductors The recent development of techniques. We discuss the recent results on vacuum Rabi splitting with a single quantum dot, emphasizing of a nanocavity. This review describes the history of realizing vacuum Rabi splitting (VRS) in the single-QD (SQD

Loss, Daniel

304

Edge modes splitting by nanostructured surface  

NASA Astrophysics Data System (ADS)

In this work the regularities of edge modes splitting in electrostatic approximation were considered in the structures like paraboloid of revolution. It was demonstrated that large splitting of edge modes occur within determined interval of wave vector with splitting out a soft, zero mode.

Zalutskaya, A. A.; Prokaznikov, A. V.

2014-10-01

305

Meson decays from string splitting  

E-print Network

We discuss exclusive decays of large spin mesons into mesons in models of large N_c quenched QCD at strong coupling using string theory. The rate of the processes are calculated by studying the splitting of a macroscopic string on the relevant dual gravity backgrounds. We study analytic formulas for the decay rates of mesons made up of very heavy or very light quarks.

F. Bigazzi; A. L. Cotrone; L. Martucci; W. Troost

2006-11-23

306

Split torque transmission load sharing  

NASA Technical Reports Server (NTRS)

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.

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

1992-01-01

307

Split torque transmission load sharing  

SciTech Connect

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.

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

1992-10-01

308

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

PubMed Central

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

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

2014-01-01

309

Umbilical cord blood transplantation in adults: Results of the prospective cord blood transplantation (COBLT)  

Microsoft Academic Search

The Cord Blood Transplantation study group conducted a prospective study of unrelated cord blood transplantation (CBT) to better define the role of this stem cell source for subjects requiring unrelated allogeneic transplantation. We report on 1 stratum of the study designated for adult subjects. The primary end point of the study was survival at 180 days. Secondary end points included

Kenneth Cornetta; Mary Laughlin; Shelly Carter; Donna Wall; Joel Weinthal; Colleen Delaney; John Wagner; Robert Sweetman; Philip McCarthy; Nelson Chao

2005-01-01

310

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

SciTech Connect

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

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

1994-09-01

311

[Instruments for spinal cord stimulation].  

PubMed

Development of instruments for spinal cord stimulation is remarkable. We can implant two cylinder-type stimulation electrodes in parallel into the spinal epidural space. We call this method for dual-lead SCS. Dual lead-SCS is useful to induce paresthesia over the painful area, and the success rate of pain reduction induced by dual-lead SCS is increasing. For dual-lead stimulation, the RestoreSensor, the EonMini, and the Precision Plus are suitable and useful for the treatment of intractable pain. Based on the results of a drug-challenge test with ketamine, we applied dual-SCS for the treatment of various kinds of neuropathic pain. Comparing with the results of single-lead SCS, dual-lead SCS has obvious advantages to evoke paresthesia over the painful area, and showed a remarkable effects for pain reduction. Dual-lead SCS combined with low-dose ketamine drip infusion method is useful for the treatment of various kinds of neuropathic pain. Even if the direct effect of ketamine is transient, effects that provide release from central sensitization and the wind-up phenomenon may be important to increase the effects of dual-lead SCS. Based on the development of dual-lead SCS, SCS therapy has become an important and powerful method for the treatment of intractable pain. PMID:25098136

Yamamoto, Takamitsu; Fukaya, Chikashi; Yoshino, Atsuo

2014-07-01

312

Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report  

PubMed Central

Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation. Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA). CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages. PMID:23433005

2013-01-01

313

Symptoms of Sleep Disordered Breathing in Children with Craniofacial Malformations  

PubMed Central

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

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

2014-01-01

314

Biamnial alpha fetoprotein concentration in twins, one with multiple malformations.  

PubMed Central

In the 18th week of pregnancy in a 22 year old patient, twins were diagnosed by ultrasound. It was found that one twin had an abnormal skull outline and an echo-free area covered by a thin membrane in the region of the abdomen. The second embryo showed no sign of malformation. Amniocentesis was performed and the AFP in both samples of amniotic fluid were in the pathological range. Our own observations with indirect immunofluorescence confirmed that one twin with defects leading to abnormally high AFP levels can cause pathological AFP levels in the amniotic sac of a healthy twin. Images PMID:6209397

Huber, J; Wagenbichler, P; Bartsch, F

1984-01-01

315

Sonohysterography is a useful diagnostic approach for uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is a rare cause of abnormal uterine bleeding; nevertheless, it is a potentially life-threatening condition when the diagnosis is not made. We report a case of uterine AVM with a secondary uterine hematoma diagnosed 2 weeks after curettage due to spontaneous abortion. Ultrasound examination revealed a mixed echogenic mass of approximately 4 cm × 1.5 cm with no blood flow and an additional contiguous heterogeneous mass with turbulent blood flow depicted by color Doppler. Transvaginal sonohysterography enabled us to exclude residual chorionic tissues and to make precise diagnosis of uterine AVM with a secondary hematoma. PMID:24888955

Mishina, Miyuki; Hasegawa, Junichi; Nakamura, Masamitsu; Ichizuka, Kiyotake; Sekizawa, Akihiko; Okai, Takashi

2014-06-01

316

An Unusual Left Upper Quadrant Mass: A Bronchopulmonary Foregut Malformation  

PubMed Central

We report a case of a lady who presented with epigastric discomfort. Physical examination revealed a large left upper quadrant mass filling the left upper quadrant. Following extensive preoperative evaluation, she underwent resection of this 9 × 10 × 11 centimeter mass with en bloc excision of a portion of the left hemidiaphragm. She made an uneventful postoperative recovery. Histopathology revealed a bronchopulmonary foregut malformation with pulmonary sequestration. This developmental anomaly of the foregut typically occurs in the thoracic cavity; however, it can occur below the diaphragm. Herein we report a case and a detailed review of the embryology, clinical features, and management of these extremely rare clinical entities. PMID:23533917

McDermott, R. L.; Kavanagh, D. O.; Bartosik, W.; Quinn, C.; O'Connell, P. R.

2013-01-01

317

Pediatric postcricoid vascular malformation: a diagnostic and treatment challenge.  

PubMed

Hemangioma of the upper aerodigestive tract is a rarely reported occurrence in the pediatric literature. To date, there have been three published case reports of postcricoid hemangiomas contributing to unexplained dysphagia and respiratory distress. We present three children with a history of swallowing difficulty and stridor who were found to have an occult postcricoid mass. Valsalva maneuvers confirmed the suspicion of a vascular malformation in both patients. Transoral laser therapy (KTP and CO2) was used to ablate the lesions. The patients are symptom-free at 5 months, 5 years, and 2 weeks, respectively. The diagnostic challenge in evaluating these children and the therapeutic choices are described. PMID:15961166

Zur, Karen B; Wood, Robert E; Elluru, Ravindhra G

2005-12-01

318

[Anesthetic management of a neonate with congenital cystic adenomatoid malformation].  

PubMed

We report the anesthetic management of a female neonate with congenital cyst adenoid malformation (CCAM) type III of the lung who underwent the lower right lobe resection 22 days after birth. General anesthesia was induced with propofol and rocuronium. The trachea was intubated with a 3.0 standard tube. Anesthesia was maintained with sevoflurane in an air/oxygen mixture and fentanyl. Intraoperative anesthetic course was uneventful except transient desaturation during lung compression. Immediately, the saturation was restored by interruption of lung compression. One lung ventilation was not necessary in this operation. Postoperative course was uneventful. Patient was discharged home on the 28th postoperative day. PMID:24558943

Tominaga, Hiroki; Hatori, Eiki; Takeda, Junzo; Morisaki, Hiroshi

2014-01-01

319

[Some features of the nose in craniofacial malformations].  

PubMed

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

Arnaud, E

2014-12-01

320

Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation  

PubMed Central

BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.?METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation diagnosed antenatally as pulmonary malformation is presented and the indications for surgical intervention are discussed.?RESULTS—In five infants in whom an antenatal ultrasound scan had detected a congenital lung malformation at 18-19 weeks gestation a final diagnosis of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation was made postnatally. Postnatal ultrasound and computerised axial tomographic scans confirmed the diagnosis of sequestration by delineating anomalous vascular supply. Cystic changes were also observed in the basal area of the sequestration in all patients. Four children remained asymptomatic and one infant presented at 10 months of age with pneumonia. The mean age at surgical resection was 6.8 months (range 2-10). Histopathological examination confirmed intralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in two patients and extralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in three patients. The mean period of follow up was four years (range 1-8). The children remain well and are developing normally.?CONCLUSIONS—The importance of seeking an anomalous blood supply in children with congenital lung lesions is emphasised. Pulmonary sequestration and congenital cystic adenomatoid malformation probably share a common embryogenesis despite diverse morphology. The natural history of antenatally diagnosed lung masses is variable. Early postnatal surgical resection of pulmonary sequestration with cystic adenomatoid malformation is recommended. Surgical excision should be conservative, sparing the normal lung parenchyma.?? PMID:10413723

Samuel, M.; Burge, D.

1999-01-01

321

Umbilical cord blood lead levels in California  

SciTech Connect

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.

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

1991-05-01

322

Proprioceptive pathways of the spinal cord.  

PubMed Central

In the Macaque, surgical lesions were made in the dorsal funiculus, in the dorsolateral funiculus, and through half of the spinal cord. The somatosensory and motor capacity of the animal were examined neurologically and electrophysiologically. The exact lesion was then confirmed pathologically in detail. The results of these experiments indicate that limb position information from the distal limb and proximal limb are relayed to the brain in two different fashions. Distal limb position information, especially the cortical representation of the limbs' volar surface as it moves in space, is drastically impaired by dorsal funiculus or posterior white column lesions. Proximal limb position may or may not be impaired by similar lesions, for this information while initially in the dorsal or posterior white columns is sorted out (as it ascends in the spinal cord) to the dorsolateral funiculus or white columns. For example, in the lower thoracic spinal cord, both distal and proximal hind limb sensation are impaired by posterior white column damage; in the cervical cord, only distal sensation is impaired by the same lesion, and proximal information is spared. We refer to this neuroanatomic rearranging as "fibre sorting", and we believe that it is clinically significant in spinal cord disease. Images PMID:408463

Schneider, R J; Kulics, A T; Ducker, T B

1977-01-01

323

Causes of Spinal Cord Injury  

PubMed Central

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

2013-01-01

324

Split quaternion nonlinear adaptive filtering.  

PubMed

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

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

2010-04-01

325

Hyperfine splitting in noncommutative spaces  

NASA Astrophysics Data System (ADS)

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

Alavi, S. A.

2008-07-01

326

Current status of umbilical cord blood hematopoietic stem cell transplantation  

Microsoft Academic Search

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.

Eliane Gluckman

2000-01-01

327

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

PubMed Central

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

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

2009-01-01

328

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

EPA Science Inventory

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

329

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

Microsoft Academic Search

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

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

2006-01-01

330

Presentation and Management of Hydromyelia in Children with Chiari Type-II Malformation  

Microsoft Academic Search

Hydromyelia in patients with myelomeningocele and Chiari-II malformation is a relatively frequent finding on MRI studies. However, not all children develop symptoms from the hydromyelia that requires treatment. Furthermore, treatment of hydromyelia in spina bifida patients is rather complex due to the associated malformations. The authors retrospectively analyzed 231 MRI studies carried out on spina bifida patients who presented neurological

Frank La Marca; Martin Herman; John A. Grant; David G. McLone

1997-01-01

331

Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by discrete venous malformations of varying size and appearance that are present on the skin and within the gastrointestinal tract. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. A serious complication is gastrointestinal bleeding. Because venous malformations were described historically as cavernous hemangiomas,

Walter K Nahm; Sharon Moise; Lawrence F Eichenfield; Amy S Paller; Laura Nathanson; Denise M Malicki; Sheila Fallon Friedlander

2004-01-01

332

MALFORMATION, MORTALITY AND PARASITES IN NORTHERN LEOPARD FROGS IN MN AND ND.  

Technology Transfer Automated Retrieval System (TEKTRAN)

In 2000 a field study compared the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)lake sites, one site with history of high incidence of malformations (CWB)and one with low incidence (BUT). Tadpoles were reared in enclosures ...

333

MALFORMATION VERSUS MORTALITY, A STUDY OF NORTHERN LEOPARD FROG DEVELOPMENT IN SITU.  

Technology Transfer Automated Retrieval System (TEKTRAN)

Field studies were designed to compare the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)Lake sites. Site selection was based on survey data that indicated one site had a high incidence of malformations (CWB) versus low inci...

334

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

SciTech Connect

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

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

1995-07-03

335

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

Microsoft Academic Search

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

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

1992-01-01

336

Uterine arteriovenous malformation successfully embolized with a liquid polymer, isobutyl 2-cyanoacrylate.  

PubMed

A uterine arteriovenous malformation was diagnosed angiographically in a 27-year-old woman presenting with recurrent menometrorrhagia. Bilateral hypogastric artery embolization with a liquid polymer, isobutyl 2-cyanoacrylate (Bucrylate), resulted in subsequent normal menses. Bucrylate offers a number of advantages over other agents previously used to embolize uterine arteriovenous malformations. PMID:3752185

Markoff, G; Quagliarello, J; Rosen, R J; Beckman, E M

1986-09-01

337

Embolization of intracranial arteriovenous malformations and fistulas with polyvinyl alcohol particles and platinum fibre coils  

Microsoft Academic Search

In order to reduce the recanalization rate of arteriovenous malformations and multiple dural arteriovenous fistulas, embolization was carried out with polyvinyl alcohol (PVA) particles combined with platinum fibre coils in 20 patients. The malformation was occluded more effectively than by PVA alone. Distal deposition of the emboli was obtained by improved steerable catheters (Tracker-18-unibody) and guidewires. The complication rate was

P. H. Nakstad; S. J. Bakke; J. K. Hald

1992-01-01

338

Mediastinal venous vascular malformations: report of two cases, with discussion of imaging findings and classification systems.  

PubMed

Mediastinal vascular malformations are interesting group of disorders, which are rarely seen in clinical practice. In this case report, we discuss two cases of venous vascular malformations in the anterior and posterior mediastinum. Also, we discuss the findings on cross-sectional imaging and review the classification schemes of these lesions. PMID:24393540

Robert, Andres; Raymond, Daniel; Bolen, Michael; Renapurkar, Rahul

2014-01-01

339

Congenital malformations after the use of inhaled budesonide in early pregnancy  

Microsoft Academic Search

Objective: To study possible teratogenic risks with the use of an inhaled glucocorticoid, budesonide, in early pregnancy.Methods: Using the Swedish Medical Birth Registry, congenital malformations were studied in 2014 infants whose mothers had used inhaled budesonide for asthma in early pregnancy. The presence of congenital malformations was checked further with auxilliary registries.Results: No increase in the general rate of congenital

Bengt Källén; Hakan Rydhstroem; Anders Åberg

1999-01-01

340

The diagnostic yield of rescreening for arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.  

PubMed

The diagnostic yield of rescreening children with hereditary hemorrhagic telangiectasia at regular intervals for arteriovenous malformations is unclear. Here, we show that when children with initially negative screening were reassessed after 5 years, no new arteriovenous malformations were detected suggesting that longer intervals between screenings may be adequate. PMID:24797954

Latino, Giuseppe A; Al-Saleh, Suhail; Carpenter, Susan; Ratjen, Felix

2014-07-01

341

Cord blood clinical processing, cryopreservation, and storage.  

PubMed

Allogeneic umbilical cord blood (UCB) hematopoietic stem cell transplantation has become a crucial advancement in the treatment for a variety of diseases including hematopoietic and non-hematopoietic malignancies, BM failure syndromes, hemoglobinopathies, and metabolic and immunodeficiency disorders. It has been well documented that the success of UCB engraftment is tied to UCB banking processes, and now there are established guidelines for standardization of collection, banking, processing, and cryopreservation for unrelated UCB units with purpose of achieving consistent production of high quality placental and UCB units for administration. In 2011, Canada's Ministry of Health has announced Canada's first national, publicly funded umbilical cord blood bank, which aims to provide altruistic donations for unrelated allogeneic hematopoietic stem cell transplant. In this chapter, we describe specific protocols for clinical processing, cryopreservation, and storage of UCB used by the Canadian Blood Services National Public Umbilical Cord Blood Bank. PMID:25428018

Elmoazzen, Heidi; Holovati, Jelena L

2015-01-01

342

Chiari malformation type I: a neuropsychological case study.  

PubMed

Chiari Malformation type I (CM-I) is a congenital anomaly that occurs when the cerebellar tonsils protrude through the foramen magnum. Individuals with this condition are typically asymptomatic and the identification of the malformation is usually an incidental finding during the course of treating another disorder. This case study explores the neuropsychological sequelae of two unique cases of CM-I in combat veterans. Neuropsychological evaluation revealed that both patients demonstrated preserved general cognitive functioning but had varying patterns of performance on measures of visuospatial, executive functioning, and processing speed. In terms of affective functioning, both endorsed significant depressive symptomatology, but had varying patterns of severity on other estimates of psychiatric symptomatology. Overall, results suggest that there is not one pattern of cognitive and affective functioning associated with CM-I and that environmental and psychological rather than neurological factors should be considered when evaluating cognitive and affective functioning. These cases also highlight the need for neuropsychological evaluation in CM-I in terms of providing guidance for psychoeducation and psychotherapy. PMID:24902143

Klein, Robert; Hopewell, C Alan; Oien, Michael

2014-06-01

343

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations  

PubMed Central

Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

2013-01-01

344

Cardiovascular malformations and organic solvent exposure during pregnancy in Finland  

SciTech Connect

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

Tikkanen, J.; Heinonen, O.P.

1988-01-01

345

CHARGE association in Sweden: malformations and functional deficits.  

PubMed

CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

2005-03-15

346

Antenatal and postnatal management of congenital cystic adenomatoid malformation.  

PubMed

Congenital thoracic malformations (CTMs) are a heterogeneous group of rare disorders that may involve the airways or lung parenchyma. The authors have focused on the condition that causes the most controversy, namely, congenital cystic adenomatoid malformation (CCAM). The reported incidence is 3.5 and 0.94 per 10,000 live births for CTMs and CCAMs respectively. Ultrasound is the antenatal imaging modality of choice for screening for CCAMs whilst magnetic resonance imaging is complimentary for morphological and volumetric evaluation of the foetal lung. Most CCAMs are detected antenatally with only a small proportion presenting postnatally. Only a few CCAMs cause foetal problems, with foetal hydrops being the best predictor of death. Although many CCAMs regress during pregnancy, most remain detectable postnatally by CT scans. Surgical excision of symptomatic lesions is relatively straightforward, but management of asymptomatic lesions is controversial. Some surgeons adopt a "wait and see" approach operating only on those patients who develop symptoms, but others operate on asymptomatic patients usually within the first year of life. Due to the potential of malignant transformation, children should have long term follow up. There is an urgent need to delineate the natural history of antenatally detected CCAMs to guide future management. PMID:22726873

Kotecha, S; Barbato, A; Bush, A; Claus, F; Davenport, M; Delacourt, C; Deprest, J; Eber, E; Frenckner, B; Greenough, A; Nicholson, A G; Antón-Pacheco, J L; Midulla, F

2012-09-01

347

Chronic Encapsulated Intracerebral Hematoma Associated with Cavernous Malformation  

PubMed Central

Chronic encapsulated intracerebral hematoma (CEIH) is a rare cerebrovascular disease that behaves as a slowly expanding lesion with a gradual onset. It is well established that CEIH is associated with arteriovenous malformations; however, CEIH associated with cavernous malformation (CM) is extremely rare. We herein report a case of CEIH associated with CM, and discuss its pathogenesis. A 12-year-old female was admitted to our hospital because of a one week history of progressive headache and nausea. Brain computed tomography scan and magnetic resonance imaging showed an intracerebral hematoma surrounded by edema in the right frontal lobe. One week later, her headache and nausea worsened, and a brain computed tomography scan revealed the enlargement of hematoma. A right frontal craniotomy was performed. The capsule, mass, and hematoma were totally removed. Histological examination confirmed the diagnosis of CEIH associated with CM. Immunohistochemical analysis revealed increased expression of vascular endothelial growth factor (VEGF) and the VEGF receptor-1 in the endothelium and fibroblasts. Our findings suggest that the activated VEGF pathway might have positively contributed to development of CEIH in the present patient. PMID:24653802

Wada, Kojiro; Sakakibara, Fumihiro; Mori, Kentaro

2014-01-01

348

A tortuous proximal urethra in urorectal septum malformation sequence?  

PubMed

We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence. PMID:24665006

Lin, Henry J; Lugo, Hector; Tran, Thu; Tovar, Jason P; Corral, Julia; Zork, Noelia M; Smith, Lynne M; French, Samuel W; Barajas, Luciano

2014-05-01

349

Associations between petrol-station density and manganese and lead in the cord blood of newborns living in Taiwan.  

PubMed

Although the anti-knocking agents used in Taiwan do not contain manganese, there are relatively high concentrations of the element in diesel fuel. As such, there have been many concerns about the impact of exposure to diesel fuels on health. This study was conducted in Taiwan to investigate the relationship between the concentration of manganese in cord blood of Taiwanese newborns and the geographic density of petrol stations as a surrogate for determining manganese emissions from vehicular traffic. A total of 1526 full-term newborns without major congenital malformations were consecutively recruited from various medical facilities from May 2004 to July 2005. Questionnaires were completed by the newborns' mothers after delivery to collect information on demographic characteristics, medical history, living environment, and other factors. Cord blood samples were collected at birth and analyzed for manganese and lead using inductively coupled plasma mass spectrometry. The geographic density of petrol stations within a 10 km zone around each newborn's residence was calculated for 1343 newborns using the Arc9 Geographic Information System. The geometric means of cord blood manganese and lead concentrations were 47.0 ?g/L (GSD=1.42) and 12.6 ?g/L (GSD=1.76), respectively. After adjusting for potential confounding factors, including maternal age, and maternal education, the results of a multiple linear regression model indicated that the concentration of cord blood manganese increased monotonically with an increasing density of petrol stations. However, no such association was found for levels of lead in cord blood. Further smoothing spline model analysis indicated that a ten unit increment in petrol station density made cord blood manganese and lead levels change by factors of 1.0092 (95% CI: 1.0058, 1.0127) and 0.9994 (95% CI: 0.9890, 0.9998), respectively. This finding suggests that exposure to manganese-containing fuel from motor vehicles may result in elevated manganese levels in the fetus. Further research is warranted to explore the relationship between traffic-related manganese exposure and potential adverse effects on fetal development. PMID:21236420

Lin, Ying-Ying; Guo, Yue-Liang Leon; Chen, Pau-Chung; Liu, Jyung-Hung; Wu, Hui-Chen; Hwang, Yaw-Huei

2011-02-01

350

Pituitary gland and axial skeletal malformations in human fetuses with spina bifida.  

PubMed

The purpose of the present study was to describe the pituitary gland and axial skeleton, including the sella turcica, in human fetuses with spina bifida. Ten fetuses with gestational ages (GA) 15 1/2-28 weeks were investigated radiographically (Faxitron X-ray apparatus) and immunohistochemically. Four of the fetuses have been described previously. The study showed that nine fetuses had minor or no skeletal abnormalities in the vertebral bodies of the spine, and one fetus had severely malformed vertebral bodies. In all cases the sella turcica and the pituitary gland were malformed. Adenopituitary tissue was in all cases located in both the sella turcica and the pharyngeal submucosa. The most severe sella turcica/pituitary gland malformation was seen in the fetus with the malformed spine. The connection between the prenatally registered sella turcica/pituitary gland malformation and the endocrinological status of children with spina bifida should be emphasized in future studies. PMID:10661842

Kjaer, I; Fischer Hansen, B; Reintoft, I; Keeling, J W

1999-12-01

351

Endogenous Repair after Spinal Cord Contusion Injuries in the Rat  

Microsoft Academic Search

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

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

1997-01-01

352

Morphine-Induced Ventilatory Failure After Spinal Cord Compression  

Microsoft Academic Search

We describe a patient who required large doses of parenteral morphine for severe pain secondary to epidural spinal cord compression caused by metastatic cancer. The pain improved suddenly after neurological progression to a complete cord compression. Shortly afterwards, the patient developed acute respiratory depression caused by an apparent relative overdose of morphine. Our hypothesis is that the cord compression relieved

Fernando Quevedo; Declan Walsh

1999-01-01

353

Towards Optimal Pain Relief: Acupuncture and Spinal Cord Stimulation  

E-print Network

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

Kreinovich, Vladik

354

Umbilical cord blood gas analysis at the time of  

E-print Network

Umbilical cord blood gas analysis at the time of delivery Maureen Harris, Sarah L. Beckley, Jonathan M. Garibaldi, Robert D. E Keith and Keith R. Greene Aims: it is now recommended that cord blood. In this paper our experience of cord blood analysis is described and the literature is reviewed to: (I) provide

Aickelin, Uwe

355

Lymphoma of the spermatic cord: sonographic appearance.  

PubMed

Primary lymphoma of the spermatic cord is a rare disease accounting for about 1.6% of primary spermatic cord tumors. We hereby present a new case in which color Doppler ultrasound (US), contrast-enhanced US, and MRI suggested a specific diagnosis that was subsequently confirmed pathologically. Color Doppler US revealed mostly hypoechoic, slighly hypervascular tissue surrounding the normal spermatic vessels, which was markedly hypervascular at contrast-enhanced US. MRI showed diffuse infiltration by homogeneously enhancing tissue surrounding the spermatic vessels hypointense to testis on T2-weighted images, isointense on T1-weighed images, lacking fat tissue, with relatively high signal intensity on diffusion-weighted images. PMID:25043997

Bertolotto, Michele; Borsato, Antonio; Derchi, Lorenzo E

2014-10-01

356

AXOPLASMIC TRANSPORT IN THE CRAYFISH NERVE CORD*  

PubMed Central

Axoplasmic proteins in the crayfish nerve cord were labeled by the incorporation of high specific activity 3H-leucine that was injected into one of the abdominal ganglia. The labeled proteins moved caudad as a sharply defined peak at 1.1 mm/day. The level of radioactivity in the cord decreased slowly as the peak approached the tail. From the sharpness of the peak and the low decrement of label with distance it is deduced that the axoplasm is probably a gel, and some of it is not consumed as it is transported along the axon but reaches the terminal and, perhaps, the synaptic regions. Images PMID:4311376

Fernandez, H. L.; Davison, P. F.

1969-01-01

357

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

PubMed Central

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

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

2014-01-01

358

Brane Splitting via Quantum Tunneling  

E-print Network

We study the two-centred AdS_7 x S^4 solution of eleven-dimensional supergravity using the Euclidean path-integral approach, and find that it can be interpreted as an instanton, signalling the splitting of the throat of the M5 brane. The instanton is interpreted as indicating a coherent superposition of the quantum states corresponding to classically distinct solutions. This is a surprising result since it leads, through the AdS/CFT correspondence, to contradictory implications for the dual (2,0) superconformal field theory on the M5 brane. We also argue that similar instantons should exist for other branes in ten- and eleven-dimensional supergravity. The counterterm subtraction technique for gravitational instantons, which arose from the AdS/CFT correspondence, is examined in terms of its applicability to our results. Connections are also made to the work of Maldacena et al on anti-de Sitter fragmentation.

Selena Ng; Malcolm Perry

2002-04-26

359

Dephasing in coherently split quasicondensates  

SciTech Connect

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

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

2011-02-15

360

IMAGING DIAGNOSIS-SPINAL CORD HISTIOCYTIC SARCOMA IN A DOG.  

PubMed

A 12-year-old mixed breed dog was presented for evaluation of progressive paraparesis and ataxia. Magnetic resonance (MR) imaging was performed and identified multifocal intradural spinal cord mass lesions. The lesions were hyperintense in T2-weighted sequences, isointense to mildly hyperintense in T1-weighted sequences with strong contrast enhancement of the intradural lesions and spinal cord meninges. Spinal cord neoplasia was suspected. A diagnosis of intramedullary spinal cord histiocytic sarcoma, confined to the central nervous system, was confirmed histopathologically. Spinal cord histiocytic sarcoma is a rare neoplasm, but should be included in the differential diagnosis for dogs with clinical signs of myelopathy. PMID:24382300

Taylor, Amanda; Eichelberger, Bunita; Hodo, Carolyn; Cooper, Jocelyn; Porter, Brian

2014-01-01

361

What cord care--if any?  

PubMed Central

The use of antiseptic treatment during cord care varies from unit to unit. Although it may reduce bacterial colonisation it may also delay cord separation. Where antiseptic treatment is used there is uncertainty as to the best agent. Hexachlorophane powder (0.3%) and 4% chlorhexidene detergent were each compared with dry cord care as a control on a two ward maternity unit in a six month open study. Of 133 infants treated with hexachlorophane 44 (33%) became heavily colonised with Staphylococcus aureus compared with 80 (47%) of 171 controls; a reduction of one third. Chlorhexidene reduced colonisation by more than half; 17 (16%) of 104 compared with 41 (42%) of 98 controls. Chlorhexidene was associated with cord attachment at 10 days in 29 (28%) infants compared with 31 of 515 (6%) infants when it was not used. Hexachlorophane was more acceptable to the nursing staff. The reduction in colonisation with the two compounds was largely due to the suppression of cross infection. PMID:8323363

Verber, I G; Pagan, F S

1993-01-01

362

Umbilical cord blood transplantation: newer trends.  

PubMed

During last ten years, over 4000 umbilical cord blood transplantations have been performed worldwide. The interest in this modality of transplantation has been growing as this provides easy access to an alternative source of stem cells for treating cancer and serious genetic disorders with otherwise fatal outcome or immense morbidity. Umbilical cord blood is a commonly discarded source of useful stem cells. The outcome of transplantation using cells from this source in children mirrors the results of unrelated donor transplantation and hence the procedure is widely accepted by paediatric transplant community. Results are, however, hampered in adults due to low cell dose. Newer techniques, such as pooled or sequential cord blood transplantation, may help to increase progenitor cell numbers and improve immune reconstitution. In near future, non-haematopoietic uses will make this even more exiting area. In this write-up, we will review this treatment including cord blood banking issues and the ethical concerns. We will discuss both paediatric and adult transplantations including certain new indications. PMID:16715620

Agarwal, M B

2006-02-01

363

Pediatric primary intramedullary spinal cord glioblastoma  

PubMed Central

Spinal cord tumors in pediatric patients are rare, representing less than 1% of all central nervous system tumors. Two cases of pediatric primary intramedullary spinal cord glioblastoma at ages 14 and 8 years are reported. Both patients presented with rapid onset paraparesis and quadraparesis. Magnetic resonance imaging in both showed heterogeneously enhancing solitary mass lesions localized to lower cervical and upper thoracic spinal cord parenchyma. Histopathologic diagnosis was glioblastoma. Case #1 had a small cell component (primitive neuroectodermal tumor-like areas), higher Ki67, and p53 labeling indices, and a relatively stable karyotype with only minimal single copy losses involving regions: Chr8;pter-30480019, Chr16;pter-29754532, Chr16;56160245–88668979, and Chr19;32848902-qter on retrospective comparative genomic hybridization using formalin-fixed, paraffin-embedded samples. Case #2 had relatively bland histomorphology and negligible p53 immunoreactivity. Both underwent multimodal therapy including gross total resection, postoperative radiation and chemotherapy. However, there was no significant improvement in neurological deficits, and overall survival in both cases was 14 months.This report highlights the broad histological spectrum and poor overall survival despite multi modality therapy. The finding of relatively unique genotypic abnormalities resembling pediatric embryonal tumors in one case may highlight the value of genome-wide profiling in development of effective therapy. The differences in management with intracranial and low-grade spinal cord gliomas and current management issues are discussed. PMID:21139963

Lober, Robert; Sharma, Suash; Bell, Beverly; Free, Alan; Figueroa, Ramon; Sheils, Chris W; Lee, Mark; Cowell, John

2010-01-01

364

Arachnoid calcification producing spinal cord compression.  

PubMed Central

A case of spinal cord compression, presumed to be due to a calcification in the arachnoid, is presented. Its relationship to a previous spinal subarachnoid haemorrhage is mentioned. The literature is reviewed and the relationship of this condition to spinal subarachnoid haemorrhage, previous myelogram, and spinal anaesthetic is stressed. Images PMID:1206414

McCullough, G A

1975-01-01

365

Treatment of early stage vocal cord carcinoma  

SciTech Connect

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.

Ayers, G.

1989-03-01

366

Devices for Umbilical Cord Blood Collection  

Microsoft Academic Search

Umbilical cord blood (UCB) is an increasingly important and rich source of stem cells. These cells can be used for the treatment of many deadly diseases, including cancers, immune and genetic disorders. It also provides a readily available source of stem cells for transplantation purposes. In this paper, we review the literature published that reflects the designs of UCB collection

Kok K. Tan; Kok Z. Tang; Sunan Huang

2007-01-01

367

Spinal cord injury rehabilitation in Nepal.  

PubMed

Spinal cord injury is a major trauma, with its short and long term effects and consequences to the patient, his friends and family. Spinal cord injury is addressed in the developed countries with standard trauma care system commencing immediately after injury and continuing to the specialized rehabilitation units. Rehabilitation is important to those with spinal injury for both functional and psychosocial reintegration. It has been an emerging concept in Nepal, which has been evident with the establishment of the various hospitals with rehabilitation units, rehabilitation centres and physical therapy units in different institutions. However, the spinal cord injury rehabilitation setting and scenario is different in Nepal from those in the developed countries since spinal cord injury rehabilitation care has not been adequately incorporated into the health care delivery system nor its importance has been realized within the medical community of Nepal. To name few, lack of human resource for the rehabilitation care, awareness among the medical personnel and general population, adequate scientific research evidence regarding situation of spinal injury and exorbitant health care policy are the important hurdles that has led to the current situation. Hence, it is our responsibility to address these apparent barriers to successful implementation and functioning of rehabilitation so that those with spinal injury would benefit from enhanced quality of life. PMID:24362674

Shah, Nabina; Shrestha, Binav; Subba, Kamana

2013-01-01

368

New Views on Old Cords: Accounting, Performance  

E-print Network

Gary Urton New Views on Old Cords: Accounting, Performance and Power in the Inca Empire The Inca research over the past two decades and reflects on the role of quipu making and the reading, or performance of Pre-Columbian Studies in the Department of Anthropology at Harvard University. He has worked

Tufts University

369

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

SciTech Connect

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.

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

1986-11-01

370

Quintessence and phantom emerging from the split-complex field, split-quaternion field and split-complex DBI field  

E-print Network

Motivated by the mathematic theory of split-complex numbers (or hyperbolic numbers, also perplex numbers) and the split-quaternion numbers (or coquaternion numbers), we define the notion of split-complex scalar field and the split-quaternion scalar field. Then we explore the cosmic evolution of these scalar fields in the background of spatially flat Friedmann-Robertson-Walker Universe. We find that both the quintessence field and the phantom field could naturally emerge in these scalar fields. Introducing the metric of field space, these theories fall into a subclass of the multi-field theories which have been extensively studied in inflationary cosmology. Using the brane world model, the split-complex Dirac-Born-Infeld Lagrangian is constructed and analyzed.

Gao, Changjun; Shen, You-Gen

2015-01-01

371

In-vivo spinal cord deformation in flexion  

NASA Astrophysics Data System (ADS)

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.

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

1997-05-01

372

Umbilical cord cell banking-implications for the future  

SciTech Connect

The first successful cord cell transplant to a sibling with Fanconi's anaemia took place 15 years ago. This proven utility of cord blood led to the establishment of cord blood banks both private and public and there are now nearly 100 cord blood banks worldwide. It is estimated that over 200,000 cord blood units (CBU) are held by the private sector and over 160,000 CBU are registered with the largest public cord blood registry. There is a tension between private cord blood banks, which store CBU for autologous or family use, and public banks, which store CBU for unrelated use and the ethics of private cord blood storage has been questioned. But more general ethical questions also arise regarding ownership, consent, confidentiality, costs and quality standards and patenting. In looking at these ethical issues one also needs to look at potential future use of cord blood stem cells. Up until now cord cells have principally been used in the treatment of paediatric blood and immune disorders. Improvements in cell expansion technology will make CBU more appropriate also for treating adults with such disorders. However, it has also been demonstrated that cord blood stem cells have the capacity to differentiate into other types of cells, neuronal, bone, epithelial and muscle which would have a future role to play in cell therapy and regenerative medicine.

Gunning, Jennifer [Cardiff Law School, Cardiff University, Law Building, Museum Avenue, Cardiff CF10 3XJ (United Kingdom)]. E-mail: gunning@cf.ac.uk

2005-09-01

373

Transcatheter brachial fistula creation for treatment of pulmonary arteriovenous malformations.  

PubMed

Pulmonary arteriovenous malformations (PAVMs) are thought to form as a result of exclusion of hepatic venous blood from part of the pulmonary circulation. Surgical arteriovenous (AV) fistula creation has demonstrated therapeutic potential to reverse PAVM formation. We sought to demonstrate the feasibility and safety of transcatheter AV fistula creation for this indication. Fluoroscopically guided puncture from the basilic vein into the brachial artery using a Brockenbrough needle and sharpened 0.014" wire created a tract between these vessels. After balloon dilation of the tract, a covered stent was deployed, resulting in a functioning brachial AV fistula. The procedure was technically successful, with no clinical complications at 4 months follow-up. Repeat diagnostic catheterization revealed marked improvement in systemic saturation and near-resolution of PAVMs in the pilot patient. This report suggests that transcatheter brachial arteriovenous fistula formation is technically feasible, and may be effective in managing PAVMs in select single-ventricle patients. PMID:23765690

Esch, Jesse J; Marshall, Audrey C; Porras, Diego

2014-04-01

374

Amphibian ocular malformation associated with frog virus 3.  

PubMed

During an on-going amphibian ecology study, a free-ranging American bullfrog (Rana catesbeiana) metamorph was captured in a pitfall trap adjacent to a constructed farm pond at the Plateau Research and Education Center (PREC) on the Cumberland Plateau near Crossville, Tennessee, USA. Grossly, the right eye was approximately 50% the size of the left. Stereo and light microscopic examination revealed two granulomas within the orbit. Electron microscopic examination revealed virus particles scattered throughout one structure but mostly aggregated toward the center. Subsequent PCR and sequencing (GenBank accession Number EF175670) confirmed frog virus 3 (FV3). This represents the first report of a malformation in an anuran associated with FV3. PMID:17604194

Burton, Elizabeth C; Miller, Debra L; Styer, Eloise L; Gray, Matthew J

2008-09-01

375

Type II congenital pulmonary airway malformation in an esophageal lung  

PubMed Central

A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

2013-01-01

376

Congenital Cystic Adenomatoid Malformation with Bronchial Atresia in Elderly Patients  

PubMed Central

Congenital cystic adenomatoid malformation (CCAM) is an uncommon, nonhereditary anomaly caused by arrest of lung. Patients with CCAM may present with respiratory distress as newborns, or may remain asymptomatic until later in life. CCAM type I is rarely found in association with bronchial atresia (BA) in adults; we present such a case. Case: A 54-year-old female presented with chronic cough and blood-tinged sputum. Physical examination and laboratory tests were unremarkable. Chest radiographs and a CT scan of the chest showed multiple large air-filled cysts consistent with a CCAM in the right lower lobe, and an oval-shaped opacity in the distal right middle lobal bronchus. Based on the radiologic findings, right middle lobectomy and a medial basal segmentectomy of the right lower lobe were performed via a thoracotomy. These lesions were consistent with Stocker's Type I CCAM and BA in the different lobes. PMID:23101017

Kwak, Hyun Jung; Moon, Ji-Yong; Kim, Sa-Il; Kim, Tae Hyung; Sohn, Jang Won; Kim, Sang-Heon; Shin, Dong Ho; Park, Sung Soo; Chung, Won Sang

2012-01-01

377

[Multiple bilateral pulmonary nodules revealing a congenital cystic adenomatoid malformation].  

PubMed

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality, representing about 25% of all congenital lung lesions. It is very rare that presentation is delayed until adulthood. We report a case of 63-year-old woman without notable pathological antecedents in whom a systematic chest X-ray revealed multiple bilateral pulmonary nodules. The patient was asymptomatic and her physical examination was normal. CT scan showed bilateral liquid rounded thin-walled densities of various size, with a homogeneous non calcified content. The diagnosis was based on radiological findings and surgery. The result of histopathological examination obtained by thoracic surgery confirmed CCAM without malignancy. The postoperative follow up showed an excellent recovery. PMID:22522042

Aichaouia, C; Farah, S; Dabboussi, S; Moatamri, Z; M'hamdi, S; Bougrine, F; Bouzaiene, A; Khadhraoui, M; Cheikh, R

2012-08-01

378

Ulnar Nerve Compression at Guyon's Canal by an Arteriovenous Malformation  

PubMed Central

Guyon's canal at the wrist is not the common site of ulnar nerve compression. Ganglion, lipoma, anomalous tendon and muscles, trauma related to an occupation, arthritis, and carpal bone fracture can cause ulnar nerve compression at the wrist. However, ulnar nerve compression at Guyon's canal by vascular lesion is rare. Ulnar artery aneurysm, tortous ulnar artery, hemangioma, and thrombosis have been reported in the literature as vascular lesions. The authors experienced a case of ulnar nerve compression at Guyon's canal by an arteriovenous malformation (AVM) and the patient's symptom was improved after surgical resection. We can not easily predict vascular lesion as a cause of ulnar nerve compression at Guyon's canal. However, if there is not obvious etiology, we should consider vascular lesion as another possible etiology. PMID:19242575

Kim, Sung Soo; Kang, Hee In; Lee, Seung Jin

2009-01-01

379

Embolization of Arteriovenous Malformation with Diluted Mixture of NBCA  

PubMed Central

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

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

2000-01-01

380

Dual technique for obliteration of small arteriovenous malformations.  

PubMed

A 17-year-old man underwent an incomplete excision of a left fronto-parietal arterio-venous malformation (AVM), under image guidance. An initial attempt to treat the residual AVM by embolization was unsuccessful. The craniotomy was then re-opened in the angiography suite and the residual AVM was excised by, first, following the microcatheter within the arterial feeding vessel to the AVM and, secondly, by using metallic clips as radiographic markers to locate the position of the AVM during superselective angiography. The dual technique described is likely to be useful in selected cases with small residual AVMs and AVMs near eloquent areas of the brain, where the extent of surgical dissection and postoperative morbidity can be minimized by the precise localization of the AVM. PMID:12389892

Gnanalingham, K; Taylor, W; Watkins, L

2002-08-01

381

Histopathological changes in cerebral arteriovenous malformations following Gamma Knife radiosurgery.  

PubMed

Histological, immunohistochemical and electron microscopic investigations were carried out in a series of surgical pathology material that was removed from 7 patients. They were harboring cerebral arteriovenous malformations (AVMs) that had been previously treated with Leksell Gamma Knife radiosurgery, and presented subsequent bleeding 10-52 months after treatment. Light microscopic studies revealed a spindle cell proliferation in the connective tissue stroma and in the subendothelial region of the irradiated AVM vessels. The histological, immunohistochemical and ultrastructural characteristics of the spindle cell population in the Leksell Gamma Knife-treated AVMs are similar to those designated as myofibroblasts in wound healing processes and pathological fibromatoses. Considering that similar cell modifications have not been demonstrated in control, nonirradiated AVM specimens, these myofibroblasts might contribute to the shrinking process and final occlusion of AVMs after radiosurgery. PMID:17317989

Szeifert, György T; Timperley, Walter R; Forster, David M C; Kemeny, Andras A

2007-01-01

382

Uterine tumors resembling ovarian sex cord tumors.  

PubMed

Uterine tumors resembling ovarian sex cord tumors (UTROSCT) are rare neoplasms of unknown etiology. Only 67 cases have been reported in the literature, to our knowledge, so far. The neoplasm usually occurs in middle-aged women. Most patients present with abnormal uterine bleeding and/or abdominal pain, along with an enlarged uterus or a palpable uterine mass. There is no specific imaging finding, and the diagnosis is made exclusively on histopathologic examination. A multitude of architectural patterns are described, which include plexiform cords, anastomosing trabeculae, watered-silk, microfollicle, macrofollicle, tubules, retiform, solid cellular islands, and diffuse pattern of growth. The neoplastic cells are usually small with round to ovoid nuclei, nuclear monotony, mild nuclear hyperchromasia, and inconspicuous nucleoli with scant eosinophilic cytoplasm. Nuclear grooves are rare. Mitotic figures are infrequent, and necrosis is mostly absent. This tumor depicts a diverse immunohistochemical profile with expression of sex cord, epithelial, and smooth muscle lineages markers. Sex cord markers, such as inhibin, calretinin, CD99, WT1, and MART-1; epithelial markers, such as pancytokeratin and epithelial membrane antigen; smooth muscle markers, such as smooth muscle actin, desmin, and histone deacetylase 8; and miscellaneous markers, such as CD10, estrogen receptor, progesterone receptor, S100, and CD117, are often coexpressed. Immunoexpression for calretinin and at least for one of the other sex cord markers is required to establish a diagnosis of UTROSCT. Hysterectomy with or without bilateral salpingo-oophorectomy is usually the treatment for UTROSCT. Although most UTROSCTs behave benignly, some do recur, and thus, this entity should be considered as a tumor of low malignant potential. In this review, we discuss the current knowledge on UTROSCT and its clinical relevance. PMID:24283865

Pradhan, Dinesh; Mohanty, Sambit K

2013-12-01

383

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

PubMed Central

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

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

2013-01-01

384

Risk of malformations associated with residential proximity to hazardous waste sites in Washington State.  

PubMed

Hazardous waste sites often contain substances harmful to fetal development. Using linked birth-hospital discharge and hazardous sites data for Washington State, we evaluated the association between malformation occurrence and maternal residential proximity to hazardous waste sites. Cases (N=63,006) were infants born 1987-2001 with malformations. Controls (N=315,030) were randomly selected infants without malformations born during these years. Distance between maternal residence and nearest hazardous waste site was measured using geographic information systems (GIS) software. Odds ratio (OR) estimates of the relative risk of malformation at varying distances were calculated. Relative to living >5 miles from a site, living < or = 5 miles was associated with increased risk of any malformations in offspring (for >2- < or = 5 miles: OR 1.15: 95% Confidence Interval (CI): 1.10, 1.21; for >1- < or = 2 miles: OR 1.26, 95% CI: 1.20, 1.32; for >0.5- < or = 1 miles: OR 1.28, 95% CI: 1.22, 1.35; for < or = 0.5 miles: OR 1.33, 95% CI: 1.27, 1.40.) Risk estimates varied by urban vs. rural maternal residence and by specific malformation type. Hazardous waste sites are often located within populated areas. Thus, the possibility of increased malformation occurrence among those in close proximity deserves closer scrutiny. PMID:17046743

Kuehn, Carrie M; Mueller, Beth A; Checkoway, Harvey; Williams, Marcia

2007-03-01

385

Malformations of Cortical Development: Diagnostic Accuracy of Fetal MR Imaging  

PubMed Central

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

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

2012-01-01

386

NPHP4 Variants are Associated with Pleiotropic Heart Malformations  

PubMed Central

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

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

387

Non-operative outcomes in Chiari I malformation patients.  

PubMed

While postoperative outcomes of Chiari I malformation patients have been well-reported, there is a paucity of literature concerning non-operative management in these patients. We retrospectively identified patients with Chiari I malformation who were not recommended for surgery based on lack of clinical objective findings or inconsistent cough headaches and conducted patient follow-up with a prospective telephone survey. Of the 68 patients (mean age at diagnosis 30.1±17.4years), 72% were female and 31% were pediatric patients (age at diagnosis ?18years). Average follow up was 4.9±2.9years. Typical presenting symptoms included cough headache, non-specific headache, nausea, ataxia, dysphagia and paresthesias. Overall, 40% of patients who had cough headaches and 61.5% of patients with non-specific headaches reported improvement. The presence of subjective sensory symptoms was significantly associated with less likelihood of cough headache improvement while the presence of a cough headache was also associated with a lower likelihood of improvement in all non-cough symptoms. The pediatric subgroup had a greater rate of improvement with all cases of nausea/emesis and paresthesias improved or resolved at follow-up. Overall 67% of pediatric patients had improved cough headache and 71% had improvement of migraines/diffuse headaches. We found that many symptoms of Chiari I patients from our conservatively managed cohort either improved or remained unchanged over time. However, the presence of cough headaches was a significant negative predictor of concomitant symptom improvement. This further validates the view that patients with cough headaches should be considered for surgical intervention and provides useful information to counsel patients. PMID:25080302

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

2015-01-01

388

Advanced Echocardiographic Imaging of the Congenitally Malformed Heart  

PubMed Central

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

Black, D; Vettukattil, J

2013-01-01

389

Multiple sclerosis of the spinal cord: Magnetic resonance appearance  

SciTech Connect

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.

Thielen, K.R.; Miller, G.M. [Mayo Clinic, Rochester, MN (United States)] [Mayo Clinic, Rochester, MN (United States)

1996-05-01

390

Splitting and Projection at Work in Schools  

ERIC Educational Resources Information Center

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

Dunning, Gerald; James, Chris; Jones, Nicola

2005-01-01

391

Micropropagation Splitting of Malus microcuttings enhances rooting  

E-print Network

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

Paris-Sud XI, Université de

392

The Split Delivery Capacitated Team Orienteering Problem  

E-print Network

The Split Delivery Capacitated Team Orienteering Problem C. Archetti(1) N. Bianchessi(1) A. Hertz(2 deliveries are allowed. A set of potential customers is given, each associated with a demand and a profit and the vehicle capacity constraints. When split deliveries are allowed each customer may be served by more than

Hertz, Alain

393

Cheating More when the Spoils Are Split  

ERIC Educational Resources Information Center

Four experiments demonstrated that people are more likely to cheat when the benefits of doing so are split with another person, even an anonymous stranger, than when the actor alone captures all of the benefits. In three of the studies, splitting the benefits of over-reporting one's performance on a task made such over-reporting seem less…

Wiltermuth, Scott S.

2011-01-01

394

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult.  

PubMed

Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. PMID:24672262

Enuh, Hilary A; Arsura, Edward L; Cohen, Zaza; Diaz, Keith T; Nfonoyim, Jay M; Cosentino, Phillip J; Saverimuttu, Jessie K

2014-01-01

395

Congenital cystic adenomatoid malformation of lung: Report of two cases with review of literature.  

PubMed

Congenital cystic adenomatoid malformations (CCAM) also known as congenital pulmonary airway malformation is a developmental, non-hereditary, hamartomatous abnormality of lung with unknown etiology. It is a rare disease with an incidence of 1 in 25,000 to 1 in 35,000. It is a disease of infancy with most of the cases diagnosed within first 2 years of life. We report autopsy findings of two fetuses with congenital cystic adenomatoid malformation (Stocker Type II and I) with brief review of literature. PMID:24049259

Chikkannaiah, Panduranga; Kangle, Ranjit; Hawal, Manjiri

2013-07-01

396

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult  

PubMed Central

Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. PMID:24672262

Enuh, Hilary A; Arsura, Edward L; Cohen, Zaza; Diaz, Keith T; Nfonoyim, Jay M; Cosentino, Phillip J; Saverimuttu, Jessie K

2014-01-01

397

Congenital cystic adenomatoid malformation of lung: Report of two cases with review of literature  

PubMed Central

Congenital cystic adenomatoid malformations (CCAM) also known as congenital pulmonary airway malformation is a developmental, non-hereditary, hamartomatous abnormality of lung with unknown etiology. It is a rare disease with an incidence of 1 in 25,000 to 1 in 35,000. It is a disease of infancy with most of the cases diagnosed within first 2 years of life. We report autopsy findings of two fetuses with congenital cystic adenomatoid malformation (Stocker Type II and I) with brief review of literature. PMID:24049259

Chikkannaiah, Panduranga; Kangle, Ranjit; Hawal, Manjiri

2013-01-01

398

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

PubMed Central

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 head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

Obrador, S; Soto, M; Silvela, J

1975-01-01

399

Pseudotumor cerebri: as a cause for early deterioration after Chiari I malformation surgery  

Microsoft Academic Search

Introduction  Chiari I malformation is associated with a small posterior fossa which cannot accommodate a growing hindbrain. Pseudotumor\\u000a cerebri has been linked to developmental posterior fossa malformations.\\u000a \\u000a \\u000a \\u000a Case reports  The authors present two cases of early-deterioration post-Chiari I malformation surgery in a young and an adult patient, which\\u000a were linked to raised intracranial pressure and had a stormy post-operative period. The pathophysiology

Sunil V. Furtado; K. Visvanathan; Kalyan Reddy; A. S. Hegde

2009-01-01

400

Gene therapy approaches for spinal cord injury  

NASA Astrophysics Data System (ADS)

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.

Bright, Corinne

401

Lightweight electrical connector split backshell  

NASA Technical Reports Server (NTRS)

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

Goldman, Elliot (Inventor)

2009-01-01

402

Innovative solar thermochemical water splitting.  

SciTech Connect

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

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

2008-02-01

403

Complementation in Chol (Mayan) : a theory of split ergativity :  

E-print Network

The central claim of this dissertation is that aspect-based split ergativity does not mark a split in how Case is assigned, but rather, a split in sentence structure. Specifically, I argue that the contexts in which we ...

Coon, Jessica

2010-01-01

404

Colostomy in anorectal malformations: a procedure with serious but preventable complications  

Microsoft Academic Search

PurposeColostomy for patients with anorectal malformations decompresses an obstructed colon, avoids fecal contamination of the urinary tract, and protects a future perineal operation. The procedure is associated with several significant complications.

Alberto Pena; Melissa Migotto-Krieger; Marc A. Levitt

2006-01-01

405

Venous Malformation Between the External and Internal Jugular Vein Results in Swelling: Multidetector Computed Tomography Imaging  

PubMed Central

Venous malformation between the external and internal jugular vein characterized by nonfluctant, painless, and nonpulsatile swelling on the right side of his neck while the individual was singing was reported in a 45-year-old man. Interestingly, there was no skin lesion observed on his neck. The swelling increased in size when the patient was shouting (Valsalva maneuver) and diminished in size during periods of rest. Contrast enhanced multi detector computed tomography (MDCT) angiography indicated the presence of a venous malformation between the external and internal jugular vein. The patient was administered a conservative treatment strategy. Notably, only symptomatic malformations or lesions causing important aesthetic prejudice require surgical treatment. In this case, there were no symptoms or esthetic issues. Thus, we recommend diagnosis using MDCT imaging for vascular malformations at contraindicate magnetic resonance imaging (MRI).

Demir, Berrin; Kantarci, Mecit; Sumbullu, M. Akif; Yuce, Ihsan

2008-01-01

406

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

PubMed

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

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

2014-10-01

407

[Computed tomography in the diagnosis of congenital cystic adenomatoid malformation of the lung in children].  

PubMed

Cystic adenomatoid malformations of the lung belong to a group of abnormalities, the only treatment is surgery. This raises the question as to the earliest detection of this lung abnormality in children. Up to the present, there have been cases of late diagnosis of this abnormality masked by an inflammatory process in the lung, its abscess, and even tuberculosis lesion of lung tissue. We describe a case of cystic adenomatoid malformation of the lung in a child, by discussing the capabilities of chest computed tomography in the diagnosis of lung malformations in children. When inflammatory lung changes are found in children, it is necessary to keep in mind that these alterations may develop in the presence of the malformation. To clarify the pattern of the disease, by applying current radiodiagnostic techniques, allows the choice of optimal treatment policy and the time and volume of surgical intervention. PMID:25276886

Il'ina, N A; Alekseeva, A L

2014-01-01

408

Coffee consumption during pregnancy and selected congenital malformations: a nationwide case-control study.  

PubMed Central

Finland leads the world in per capita coffee consumption. To evaluate the hypothesis that coffee consumption during pregnancy is teratogenic, 755 pairs of mothers of malformed children and their controls were personally interviewed soon after delivery. After excluding tea drinkers and pairs with inadequate information, the study group included 706 pairs. Study subjects consisted of mothers of children with 112 defects of the central nervous system, 241 orofacial clefts, 210 structural defects of the skeleton, and 143 cardiovascular malformations. The coffee consumption during pregnancy was similar for the mothers of malformed or non-malformed children. The comparison of the mothers drinking at least four cups of coffee a day during pregnancy with those not consuming coffee at all showed a relative risk point estimate of 1.0 with the 95 per cent confidence limits of 0.7 and 1.3. PMID:6638236

Kurppa, K; Holmberg, P C; Kuosma, E; Saxén, L

1983-01-01

409

[Malformations of urinary system in our series of children--treatment approaches].  

PubMed

The purpose of the study was to analyze treatment approaches in children with malformations of urinary system. The retrospective study comprised 557 children (196 boys and 361 girls) aged 1-18 years with malformations of urinary system hospitalized in 2000-2007 in the Department of Pediatric Nephrology, University Children's Hospital, Lublin. Primary and secondary vesicoureteral reflux (269 children), ureteral obstruction (102 children), urethral obstruction (91 children) and renal duplication (83 children) were the most common malformations observed. In 26 children, multiple urinary system malformations were diagnosed. 332 children required surgery including 113 with vesicoureteral reflux. However, in the majority of children with vesicoureteral reflux, on an average 18-month pharmacologic treatment resulted in complete recovery. PMID:18924512

Bienia?, Beata; Borzecka, Halina; Wieczorkiewicz-P?aza, Anna; Majewski, Marek; Sikora, Przemys?aw; Ksiazek, Ewelina; Zajaczkowska, Ma?gorzata

2008-01-01

410

Intravascular use of isobutyl 2-cyanoacrylate: Part 1 Treatment of intracranial arteriovenous malformations.  

PubMed

The intravascular use of the rapidly polymerizing acrylic compound, isobutyl 2-cyanoacrylate (IBC), in 10 patients with intracranial arteriovenous malformations (AVMs) is described. The monomer was introduced into each malformation at craniotomy using angiographic control and microvascular dissection technique to identify, isolate, and inject the major components of each vascular lesion while attempting to preserve normal arterial circulation. Postoperative angiography was used routinely to evaluate the results of IBC embolization. Four patients underwent the injection and immediate surgical excision of an intracranial AVM, and 6 underwent injection alone; 3 of the latter had residual malformation demonstrated on postoperative angiography, and 1 of these patients had the remnants of her malformation occluded by a second embolic procedure. There was no operative mortality nor permanent neurological morbidity. Three patients suffered transient neurological dysfunction in the immediate postoperative period. PMID:7207772

Samson, D; Ditmore, Q M; Beyer, C W

1981-01-01

411

Long-term pathological follow-up of cerebral arteriovenous malformations treated by embolization with bucrylate.  

PubMed

We examined 17 intracranial arteriovenous malformations that were resected after treatment by embolization using bucrylate (isobutyl-2-cyanoacrylate). In nine specimens removed 5 days to 16 months after embolization therapy, a series of pathologic changes was seen, including patchy mural angionecrosis (adjacent to bucrylate fragments) up to six weeks after embolization, the presence of bucrylate in vessel walls and fibromuscular intimal cushions, and the occurrence (after several months) of entirely extravascular bucrylate. Occasional parts of recanalized vascular malformations were identified. Bucrylate was present within arteriovenous malformations as late as 16 months after embolization, although the amount appeared to be diminished. These findings suggest a specific sequence of events in the interaction between bucrylate and mural components within the malformations and may explain some important complications of embolization therapy (e.g., delayed hemorrhage after embolization). PMID:3511383

Vinters, H V; Lundie, M J; Kaufmann, J C

1986-02-20

412

Small intestinal vascular malformation bleeding: A case report with imaging findings  

PubMed Central

The small intestine is approximately 5-6 m long and occupies a large area in the abdominal cavity. These factors preclude the use of ordinary endoscopy and X-ray to thoroughly examine the small intestine for bleeding of vascular malformations. Thus, the diagnosis of intestinal bleeding is very difficult. A 47-year-old man presented at the hospital 5 mo ago with dark stool. Several angiomas were detected by oral approach enteroscopy, but no active bleeding was observed. Additionally, no lesions were detected by anal approach enteroscopy; however, gastrointestinal tract bleeding still occurred for an unknown reason. We performed an abdominal vascular enhanced computed tomography examination and detected ileal vascular malformations. Ileum angioma and vascular malformation were detected by a laparoscopic approach, and segmental resection was performed for both lesions, which were confirmed by pathological diagnosis. This report systemically emphasizes the imaging findings of small intestinal vascular malformation bleeding. PMID:25320550

Cui, Jun; Huang, Liu-Ye; Lin, Shu-Juan; Yi, Long-Zhi; Wu, Cheng-Rong; Zhang, Bo

2014-01-01

413

Acute hydrocephalus following cervical spinal cord injury.  

PubMed

We present a case of acute hydrocephalus secondary to cervical spinal cord injury in a patient with diffuse ossification of the posterior longitudinal ligament (OPLL). A 75-year-old male patient visited the emergency department with tetraparesis and spinal shock. Imaging studies showed cervical spinal cord injury with hemorrhage and diffuse OPLL from C1 to C4. We performed decompressive laminectomy and occipitocervical fusion. Two days after surgery, his mental status had deteriorated to drowsiness with dilatation of the right pupil. Findings on brain computed tomography revealed acute hydrocephalus and subarachnoid hemorrhage in the cerebellomedullary cistern, therefore, extraventricular drainage was performed immediately. Acute hydrocephalus as a complication of cervical spine trauma is rare, however, it should be considered if the patient shows deterioration of neurologic symptoms. PMID:24175033

Son, Seong; Lee, Sang Gu; Park, Chan Woo; Kim, Woo Kyung

2013-08-01

414

An Invitation to Split Quaternionic Analysis  

E-print Network

Six years after William Rowan Hamilton's discovery of quaternions, in 1849 James Cockle introduced the algebra of split quaternions. (He called them ``coquaternions.'') In this paper we define regular functions on split quaternions and prove two different analogues of the Cauchy-Fueter formula for these functions. In the paper "Split quaternionic analysis and the separation of the series for SL(2,R) and SL(2,C)/SL(2,R)" joint with Igor Frenkel we naturally apply the methods and formulas of quaternionic analysis to solve the problems of harmonic analysis on SL(2,R) and the imaginary Lobachevski space SL(2,C)/SL(2,R).

Libine, Matvei

2010-01-01

415

Field by field hybrid upwind splitting methods  

NASA Technical Reports Server (NTRS)

A new and general approach to upwind splitting is presented. The design principle combines the robustness of flux vector splitting schemes in the capture of nonlinear waves and the accuracy of some flux difference splitting schemes in the resolution of linear waves. The new schemes are derived following a general hybridization technique performed directly at the basic level of the field by field decomposition involved in FDS methods. The scheme does not use a spatial switch to be tuned up according to the local smoothness of the approximate solution.

Coquel, Frederic; Liou, Meng-Sing

1993-01-01

416

Intramedullary spinal cord tumors in children  

Microsoft Academic Search

IntroductionPediatric intramedullary spinal cord tumors are rare and make up only a small percentage of all central nervous system neoplasms.DiscussionThese neoplasms are predominantly benign histologically, regardless of size, with a large percentage being astrocytomas or gangliogliomas. Ependymomas, which are common in adults, are relatively uncommon in children. Contemporary management of these tumors has generated much controversy. These neoplasms occur primarily

George I. Jallo; Diana Freed; Fred Epstein

2003-01-01

417

Spinal cord involvement in Balo's concentric sclerosis.  

PubMed

We present a patient with a history of myelitis, who had a steroid refractory attack of CNS inflammatory demyelinating disease that developed into cerebral concentric sclerosis of Balo after plasma exchange. The acute inflammatory disease involved the spinal cord, a phenomenon rarely demonstrated. This patient fulfilled the McDonald criteria for multiple sclerosis. Plasmapheresis did not have a beneficial effect, but the patient stabilised at high EDSS after treatment with mitoxantron. PMID:19181346

Kreft, Karim L; Mellema, S Jouke; Hintzen, Rogier Q

2009-04-15

418

Umbilical cord blood banking for unrelated transplantation  

Microsoft Academic Search

Cost-efficient umbilical cord blood (UCB) banking requires well-standardized methods of volume reduction and storage. To compare UCB fractionation using a technique of hydroxyethyl starch (HES) sedimentation with the Ficoll (double) and Percoll methods, 50 whole units was allocated randomly to each procedure. HES resulted in a significantly better recovery of mononuclear cells (87.5%), granulocyte\\/macrophage colony-forming units (CFU-GM) (88.4%), and CD34+

Carmen Regidor; Manuel Posada; Dolores Monteagudo; Carlos Garaulet; Nieves Somolinos; Rafael Forés; Montserrat Briz; Manuel-Nicolás Fernández

1999-01-01

419

Spinal cord protection for thoracic aortic surgery.  

PubMed

Spinal cord protection is critical for successful outcomes after descending thoracic and thoracoabdominal aortic aneurysm repair. For descending thoracic aneurysms which end above T9, optimum protection is maintained by distal aortic perfusion via a left atrial to distal arterial bypass circuit with a centrifugal pump. In repairs of extensive thoracoabdominal aneurysms, additional measures are required of extensive thoracoabdominaal aneurysms, additional measures are required including hypothermia, intercostal artery implantation into the graft, and spinal fluid drainage. PMID:10589347

Hilgenberg, A D

1999-11-01

420

Anorgasmia in anterior spinal cord syndrome.  

PubMed Central

Three male and two female patients with anorgasmia and dissociated sensory loss due to an anterior spinal cord syndrome are described. Clinical, neurophysiological and quantitative sensory evaluation revealed preservation of the large fibre dorsal column functions from the lumbosacral segments with concomitant severe dysfunction or absence of the small fibre neospinothalamic mediated functions. These findings indicate a role for the spinothalamic system in orgasm. PMID:8505649

Beri?, A; Light, J K

1993-01-01

421

Prostate atrophy and spinal cord lesions  

Microsoft Academic Search

Study design:A single blinded, quantifiable survey of prostate size in spinal cord injury (SCI) patients.Objective:A small prostate gland is sometimes found on routine digital rectal examination (DRE) in SCI patients. Interruption of neurohormonal supply to the prostate gland might lead to atrophy. To test this interpretation, transrectal ultrasonic (TRUS) examinations have been carried out in SCI patients stratified by severity

J H Frisbie; S Kumar; E J Aguilera; S Yalla

2006-01-01

422

Robotic Training and Spinal Cord Plasticity  

PubMed Central

What is the potential for recovery of locomotor ability after a spinal cord injury? Both human and animal studies show that the spinal cord has the potential to reorganize and/or readjust to the loss of supraspinal input and utilize the remaining peripheral input to actually control stepping and standing. Motor training can be used to provide sensory ensembles within the spinal circuitry that are task-specific, i.e., step training improves stepping and stand training improves standing. A large component of this learning is a function of improved coordination of motor pools within and among limbs. The most successful type of training includes variability in the performed task, i.e., monotonous repetition of the exact same sensorimotor pattern results in “learned disuse”. The use of robotics for training specific motor tasks has become more prevalent recently and we report here that using an “assist-as-needed” approach for step training after a severe spinal cord injury provides a high probability of successful rehabilitation. The “assist-as-needed” paradigm allows variability in the step trajectory within specific boundaries such that the robotic arms constrain the deviations in a manner mimicking that observed under normal, intact conditions. Another critical feature of robotic devices or step training seems to be the ability to integrate normal hip and leg motion as occurs during normal stepping. These types of robotic devices have the potential to aid therapists in the clinical setting and to enhance the ability of spinal cord injured individuals to regain the maximum locomotor ability possible. PMID:19010399

Edgerton, V. Reggie; Roy, Roland R.

2010-01-01

423

Vascular endothelial growth factor and type 2 receptor for this factor in vascular malformations.  

PubMed

Immunohistochemical study revealed higher level of VEGF expression in vascular malformations compared to that in normal vessels of the adjacent tissue. VEGF expression was slightly higher in the endothelium of arteriovenous angiodysplasias than in venous angiodysplasias. Enzyme immunoassay of tissue extracts showed that the concentrations of VEGF and VEGFR2 differ in arteriovenous and venous malformations. The concentrations of VEGF and VEGFR2 differed more significantly in primary and recurrent forms of arteriovenous angiodysplasias (as compared to venous angiodysplasias). PMID:22268049

Pavlov, K A; Gershtein, E S; Dubova, E A; Shchegolev, A I

2011-02-01

424

Completely extradural intraspinal arteriovenous malformation in the lumbar spine: a case report  

PubMed Central

Introduction Spinal vascular malformations can be classified in arteriovenous malformations, cavernomas, and capillary telangiectasias. Arteriovenous malformations are the most common spinal vascular anomaly and may be located intra- and/or perimedullary. According to their nidus type and hemodynamic flow patterns, they can be differentiated into fistulous, glomerular and juvenile categories. In our case, a hyperintense extradural mass was misinterpreted as a neurinoma. The histological analysis revealed typical signs of an arteriovenous malformation. Case presentation A 57-year-old Caucasian woman presented with back pain and hypesthesia in digiti two to four of her left foot. Magnetic resonance imaging showed a long-segment intraspinal extradural soft-tissue mass in the left L4 - S1 paravertebral region with homogeneous enhancement of contrast medium. Due to another similar lesion in the lower ankle and additional cutaneous manifestations, the suspected diagnosis was a systemic disease with neurinomas (e.g. Recklinghausen’s disease). To clear up the origin and type of this lesion exploratory surgery with a hemilaminectomy of L5 was performed. This showed abnormally arterialized, dilated, and tortuous vessels. After complete resection, the intra-operative impression of an arteriovenous malformation was confirmed by a neuropathologist. Conclusions Completely extradural intraspinal arteriovenous malformations in the lumbar spine are extremely rare. In magnetic resonance imaging they are often misinterpreted as a tumor. Arteriovenous malformations can cause compression and venous congestion, or mask symptoms like a spinal disk herniation. In cases presenting with these symptoms and magnetic resonance imaging findings, an extradural intraspinal arteriovenous malformation should be considered as a possible diagnosis. Pre-operative angiography or magnetic resonance imaging angiography can be used to verify the diagnosis. PMID:24957385

2014-01-01

425

Difficult intubation in a parturient with syringomyelia and Arnold–Chiari malformation: Use of Airtraq™ laryngoscope  

PubMed Central

Anesthetic technique in parturient with syringomyelia and Arnold–Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold–Chiari type I malformation. PMID:22144932

Mustapha, Bensghir; Chkoura, K.; Elhassani, M.; Ahtil, R.; Azendour, H.; Kamili, N. Drissi

2011-01-01

426

Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence.  

PubMed

Three cases of cerebellar vermis agenesis are reported and the relevant literature (19 other cases) is reviewed. Other posterior fossa malformations, such as a mega-cisterna magna, arachnoid cyst and Dandy-Walker syndrome, are discussed both from the pathological and clinical view point. We put forward a hypothesis that agenesis of the cerebellar vermis and Dandy-Walker syndrome could be regarded as two different stages of the same malformation. PMID:503277

Mercuri, S; Curatolo, P; Giuffrè, R; Di Lorenzo, N

1979-09-01

427

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children  

Microsoft Academic Search

We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic\\/structural\\u000a abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the\\u000a kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal malformations (37.8%).\\u000a Horse-shoe kidney was

Ilmay Bilge; Hulya Kayserili; Sevinc Emre; Ahmet Nayir; Aydan Sirin; Turgut Tukel; Firdevs Bas; Gulleyla Kilic; Seher Basaran; Hulya Gunoz; Memnune Apak

2000-01-01

428

Alternative approach to the repair of Ebstein’s malformation: intracardiac repair with ventricular unloading  

Microsoft Academic Search

Background. Moderate to severe Ebstein’s malformation remains a surgical challenge. Although the various approaches that have been used are appropriate and successful in many patients, there are many for which these approaches are suboptimal. To improve the prognosis for patients across the full spectrum of Ebstein’s malformation, alternative surgical approaches are necessary.Methods. From December 1995 to October 1997, 10 patients

Stefano M Marianeschi; Doff B McElhinney; V. Mohan Reddy; Norman H Silverman; Frank L Hanley

1998-01-01

429

Nitrosatable drug exposure during the first trimester of pregnancy and selected congenital malformations  

PubMed Central

BACKGROUND Nitrosatable drugs can react with nitrite in the stomach to form N-nitroso compounds, and results from animal studies suggest that N-nitroso compounds are teratogens. With data from the National Birth Defects Prevention Study, the relation between prenatal exposure to nitrosatable drugs and limb deficiencies, oral cleft, and heart malformations in offspring was examined. METHODS Maternal reports of drugs taken during the first trimester of pregnancy were classified with respect to nitrosatability for mothers of 741 babies with limb deficiencies, 2,774 with oral cleft malformations, 8,091 with congenital heart malformations, and 6,807 without major congenital malformations. Nitrite intake was estimated from maternal responses to a food frequency questionnaire. RESULTS Isolated transverse limb deficiencies and atrioventricular septal defects were associated with secondary amine drug exposures (adjusted odds ratios [aOR] 1.51, 95% confidence limit [CI] 1.11, 2.06 and aOR 1.97, 95% CI 1.19, 3.26, respectively). Tertiary amines were associated with hypoplastic left heart syndrome (aOR 1.50, 95% CI 1.10, 2.04) and single ventricle (aOR 1.61, 95% CI 1.06, 2.45). These two malformations were also significantly associated with amide drugs. For several malformations, the strongest associations with nitrosatable drug use occurred among mothers with the highest estimated dietary nitrite intake, especially for secondary amines and atrioventricular septal defects (highest tertile of nitrite, aOR 3.30, 95% CI 1.44, 7.58). CONCLUSION Prenatal exposure to nitrosatable drugs may be associated with several congenital malformations, especially with higher nitrite intake. The possible interaction between nitrosatable drugs and dietary nitrite on risk of congenital malformations warrants further attention. PMID:22903972

Brender, Jean D.; Werler, Martha M; Shinde, Mayura U; Vuong, Ann M; Kelley, Katherine E.; Huber, John C.; Sharkey, Joseph R.; Griesenbeck, John S.; Romitti, Paul A.; Malik, Sadia; Suarez, Lucina; Langlois, Peter H.; Canfield, Mark A.

2012-01-01

430

Infant mortality from congenital malformations in the United States, 1970–1997  

Microsoft Academic Search

OBJECTIVE:We examined a trend in infant mortality caused by congenital malformations in the United States, particularly for the racial disparity between whites and nonwhites.METHODS:We used US annual summary data on cause-specific infant mortality for 1970–97 and detailed birth and infant death linked data for 1985–87, 1989–91, and 1995–97.RESULTS:Congenital malformations became a more prominent cause of infant mortality in 1997 and

Kwang-sun Lee; Babak Khoshnood; Li Chen; Stephen N Wall; William J Cromie; Robert L Mittendorf

2001-01-01

431

Serotonergic transmission after spinal cord injury.  

PubMed

Changes in descending serotonergic innervation of spinal neural activity have been implicated in symptoms of paralysis, spasticity, sensory disturbances and pain following spinal cord injury (SCI). Serotonergic neurons possess an enhanced ability to regenerate or sprout after many types of injury, including SCI. Current research suggests that serotonine (5-HT) release within the ventral horn of the spinal cord plays a critical role in motor function, and activation of 5-HT receptors mediates locomotor control. 5-HT originating from the brain stem inhibits sensory afferent transmission and associated spinal reflexes; by abolishing 5-HT innervation SCI leads to a disinhibition of sensory transmission. 5-HT denervation supersensitivity is one of the key mechanisms underlying the increased motoneuron excitability that occurs after SCI, and this hyperexcitability has been demonstrated to underlie the pathogenesis of spasticity after SCI. Moreover, emerging evidence implicates serotonergic descending facilitatory pathways from the brainstem to the spinal cord in the maintenance of pathologic pain. There are functional relevant connections between the descending serotonergic system from the rostral ventromedial medulla in the brainstem, the 5-HT receptors in the spinal dorsal horn, and the descending pain facilitation after tissue and nerve injury. This narrative review focussed on the most important studies that have investigated the above-mentioned effects of impaired 5-HT-transmission in humans after SCI. We also briefly discussed the promising therapeutical approaches with serotonergic drugs, monoclonal antibodies and intraspinal cell transplantation. PMID:24866695

Nardone, Raffaele; Höller, Yvonne; Thomschewski, Aljoscha; Höller, Peter; Lochner, Piergiorgio; Golaszewski, Stefan; Brigo, Francesco; Trinka, Eugen

2015-02-01

432

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.  

PubMed

Purpose:The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has not been established.Methods:We analyzed PDCD10 small interfering RNA-treated endothelial cells for stress fibers, Rho kinase activity, and permeability. Rho kinase activity was assessed in cerebral cavernous malformation lesions. Brain permeability and cerebral cavernous malformation lesion burden were quantified, and clinical manifestations were assessed in prospectively enrolled subjects with PDCD10 mutations.Results:We determined that PDCD10 protein suppresses endothelial stress fibers, Rho kinase activity, and permeability in vitro. Pdcd10 heterozygous mice have greater lesion burden than other Ccm genotypes. We demonstrated robust Rho kinase activity in murine and human cerebral cavernous malformation vasculature and increased brain vascular permeability in humans with PDCD10 mutation. Clinical phenotype is exceptionally aggressive compared with the more common KRIT1 and CCM2 familial and sporadic cerebral cavernous malformation, with greater lesion burden and more frequent hemorrhages earlier in life. We first report other phenotypic features, including scoliosis, cognitive disability, and skin lesions, unrelated to lesion burden or bleeding.Conclusion:These findings define a unique cerebral cavernous malformation disease with exceptional aggressiveness, and they inform preclinical therapeutic testing, clinical counseling, and the design of trials.Genet Med advance online publication 14 August 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.97. PMID:25122144

Shenkar, Robert; Shi, Changbin; Rebeiz, Tania; Stockton, Rebecca A; McDonald, David A; Mikati, Abdul Ghani; Zhang, Lingjiao; Austin, Cecilia; Akers, Amy L; Gallione, Carol J; Rorrer, Autumn; Gunel, Murat; Min, Wang; Marcondes de Souza, Jorge; Lee, Connie; Marchuk, Douglas A; Awad, Issam A

2014-08-14

433

[Laser and intense pulsed light in the treatment of infantile haemangiomas and vascular malformations].  

PubMed

The use of the indications of the laser in treating vascular malformations and infantile haemangiomas is based on the theory of selective photothermolysis, in which the oxyhaemoglobin is the target chromophore on which the light of the laser acts, thus avoiding damage to neighbouring tissues. The pulsed dye laser is the most employed and at present is the treatment of choice in capillary malformations (port-wine stains). A variable response is obtained, with a substantial clearing of the colour of the lesion after several sessions. Application at early ages seems to improve the results. Venous malformations, especially those localised in the mucosa, respond better to the Nd:YAG laser; lymphatic malformations to the CO2 laser. Arteriovenous malformations rarely respond. Use of the pulsed dye laser in the phase of proliferation of the haemangiomas is subject to controversy, except where there is ulceration. A rapid re-epithelialization is obtained in these cases following its use. In the involution phase, patients with residual vascular lesions can benefit from other lasers such as KTP or Nd:YAG. If they show an atrophic surface and scars these complications improve with the CO2 laser or Er:YAG. New treatment modalities are emerging, such as photodynamic therapy, whose efficacy and safety, both in the treatment of haemangiomas and vascular malformations, have yet to be confirmed. PMID:15148516

Sánchez Carpintero, I; Mihm, M C; Waner, M

2004-01-01

434

Laser treatment in the management of infantile hemangiomas and capillary vascular malformations.  

PubMed

Vascular lesions encountered in dermatology can be divided into vascular malformations and vascular tumors, namely infantile hemangiomas (IH). Vascular malformations can further be subdivided by their flow characteristics and vessel type. Slow, or low-flow lesions are either capillary vascular malformations (CVMs), venous malformations, or lymphatic malformations. Fast, or high-flow lesions include an arterial component, and are categorized as arteriovenous malformations. IH and CVMs are among the most common benign vascular lesions seen and treated in dermatology. CVMs are present at birth and grow as the individual does, whereas IH usually appear days to weeks later and may rapidly enlarge for a period of months to a year before gradually involuting. As the technology has evolved, early and often laser treatment with the pulsed dye 595-nm laser has become our standard therapy of choice. More recently, we have started more patients on combination therapy for IH with the topical beta blocker timolol. If left untreated, CVMs darken and thicken, making them increasingly difficult to successfully treat with lasers. IH involute, sometimes resulting in fibrofatty, atrophic plaques. These individuals can undergo ablative fractional resurfacing with a fractional CO2 laser to improve the texture and appearance of these lesions. PMID:23499132

Brauer, Jeremy A; Geronemus, Roy G

2013-03-01

435

Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations: a nationwide cohort study  

PubMed Central

Objectives To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. Design Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. Setting Denmark. Participants Pregnant women in Denmark between 1997 and 2009 and their offspring. Primary outcome measures For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused exposure during pregnancy. Results The authors identified 848?786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual SSRIs. Furthermore, the authors found no association with dosage. Conclusions The apparent association between SSRI use and congenital malformations of the heart may be confounded by indications. The moderate absolute risk increase combined with uncertainty for causality still requires the risk versus benefit to be evaluated in each individual case. PMID:22710132

Andersen, Jon Traerup; Petersen, Morten; Broedbaek, Kasper; Jensen, Jonas Krogh; Afzal, Shoaib; Gislason, Gunnar H; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

2012-01-01

436

Cellular therapies for treating pain associated with spinal cord injury  

PubMed Central

Spinal cord injury leads to immense disability and loss of quality of life in human with no satisfactory clinical cure. Cell-based or cell-related therapies have emerged as promising therapeutic potentials both in regeneration of spinal cord and mitigation of neuropathic pain due to spinal cord injury. This article reviews the various options and their latest developments with an update on their therapeutic potentials and clinical trialing. PMID:22394650

2012-01-01

437

Cord-blood mesenchymal stem cells and tissue engineering  

Microsoft Academic Search

Cord-blood-derived stem cells have proven clinically useful for numerous disease states, as have mesenchymal stem cells (MCSs)\\u000a derived from bone marrow and adipose tissue. The recent identification of MSCs in cord-blood heralds cord-blood as an untapped\\u000a resource for nonhematopoietic stem cell-based therapeutic strategies for the replacement of injured or disease connective\\u000a tissue. This review discusses the potential for tissue engineering

Curtis L. Cetrulo

2006-01-01

438

Vocal Cord Paralysis and its Etiologies: A Prospective Study  

PubMed Central

Introduction: Vocal cord paralysis is a common symptom of numerous diseases and it may be due to neurogenic or mechanical fixation of the cords. Paralysis of the vocal cords is just a symptom of underlying disease in some cases; so, clinical diagnosis of the underlying cause leading to paralysis of the vocal cords is important. This study evaluates the causes of vocal cord paralysis. Methods: In a prospective study, 45 patients with paralyzed vocal cord diagnosis were examined by tests such as examination of the pharynx, larynx, esophagus, thyroid, cervical, lung, and mediastinum, brain and heart by diagnostic imaging to investigate the cause vocal cord paralysis. The study was ended by diagnosing the reason of vocal cord paralysis at each stage of the examination and the clinical studies. Results: The mean duration of symptoms was 18.95±6.50 months. The reason for referral was phonation changes (97.8%) and aspiration (37.8%) in the subjects. There was bilateral paralysis in 6.82%, left paralysis in 56.82% and right in 63.36% of subjects. The type of vocal cord placement was midline in 52.8%, paramedian in 44.4% and lateral in 2.8% of the subjects. The causes of vocal cords paralysis were idiopathic paralysis (31.11%), tumors (31.11%), surgery (28.89%), trauma, brain problems, systemic disease and other causes (2.2%). Conclusion: An integrated diagnostic and treatment program is necessary for patients with vocal cord paralysis. Possibility of malignancy should be excluded before marking idiopathic reason to vocal cord paralysis. PMID:24753832

Seyed Toutounchi, Seyed Javad; Eydi, Mahmood; Golzari, Samad EJ; Ghaffari, Mohammad Reza; Parvizian, Nashmil

2014-01-01

439

Spinal Myoclonus After Spinal Cord Injury  

PubMed Central

Background/Objective: In the course of examining spinal motor function in many hundreds of people with traumatic spinal cord injury, we encountered 6 individuals who developed involuntary and rhythmic contractions in muscles of their legs. Although there are many reports of unusual muscle activation patterns associated with different forms of myoclonus, we believe that certain aspects of the patterns seen with these 6 subjects have not been previously reported. These patterns share many features with those associated with a spinal central pattern generator for walking. Methods: Subjects in this case series had a history of chronic injury to the cervical spinal cord, resulting in either complete (ASIA A; n = 4) or incomplete (ASIA D; n = 2) quadriplegia. We used multi-channel electromyography recordings of trunk and leg muscles of each subject to document muscle activation patterns associated with different postures and as influenced by a variety of sensory stimuli. Results: Involuntary contractions spanned multiple leg muscles bilaterally, sometimes including weak abdominal contractions. Contractions were smooth and graded and were highly reproducible in rate for a given subject (contraction rates were 0.3–0.5 Hz). These movements did not resemble the brief rapid contractions (ie, "jerks") ascribed to some forms of spinal myoclonus. For all subjects, the onset of involuntary muscle contraction was dependent upon hip angle; contractions did not occur unless the hips (and knees) were extended (ie, subjects were supine). In the 4 ASIA A subjects, contractions occurred simultaneously in all muscles (agonists and antagonists) bilaterally. In sharp contrast, contractions in the 2 ASIA D subjects were reciprocal between agonists and antagonists within a limb and alternated between limbs, such that movements in these 2 subjects looked just like repetitive stepping. Finally, each of the 6 subjects had a distinct pathology of their spinal cord, nerve roots, distal trunk, or thigh; in 4 of these subjects, treatment of the pathology eliminated the involuntary movements. Conclusion: The timing, distribution, and reliance upon hip angle suggest that these movement patterns reflect some elements of a central pattern generator for stepping. Emergence of these movements in persons with chronic spinal cord injury is extremely rare and appears to depend upon a combination of the more rostrally placed injury and a pathologic process leading to a further enhancement of excitability in the caudal spinal cord. PMID:17044393

Calancie, Blair

2006-01-01

440

Structural basis of photosynthetic water-splitting  

NASA Astrophysics Data System (ADS)

Photosynthetic water-splitting takes place in photosystem II (PSII), a membrane protein complex consisting of 20 subunits with an overall molecular mass of 350 kDa. The light-induced water-splitting reaction catalyzed by PSII not only converts light energy into biologically useful chemical energy, but also provides us with oxygen indispensible for sustaining oxygenic life on the earth. We have solved the structure of PSII at a 1.9 Å resolution, from which, the detailed structure of the Mn4CaO5-cluster, the catalytic center for water-splitting, became clear. Based on the structure of PSII at the atomic resolution, possible mechanism of light-induced water-splitting was discussed.

Shen, Jian-Ren; Umena, Yasufumi; Kawakami, Keisuke; Kamiya, Nobuo

2013-12-01

441

Structural basis of photosynthetic water-splitting  

SciTech Connect

Photosynthetic water-splitting takes place in photosystem II (PSII), a membrane protein complex consisting of 20 subunits with an overall molecular mass of 350 kDa. The light-induced water-splitting reaction catalyzed by PSII not only converts light energy into biologically useful chemical energy, but also provides us with oxygen indispensible for sustaining oxygenic life on the earth. We have solved the structure of PSII at a 1.9 Å resolution, from which, the detailed structure of the Mn{sub 4}CaO{sub 5}-cluster, the catalytic center for water-splitting, became clear. Based on the structure of PSII at the atomic resolution, possible mechanism of light-induced water-splitting was discussed.

Shen, Jian-Ren [Graduate School of Natural Science and Technology/Faculty of Science, Okayama University, Okayama (Japan); Umena, Yasufumi [The OCU Advanced Research Institute for Natural Science and Technology (OCARINA), Osaka City University, Osaka, Japan and PRESTO, JST (Japan); Kawakami, Keisuke [The OCU Advanced Research Institute for Natural Science and Technology (OCARINA), Osaka City University, Osaka (Japan); Kamiya, Nobuo [The OCU Advanced Research Institute for Natural Science and Technology (OCARINA), Osaka City University, Osaka, Japan and Department of Chemistry, Graduate School of Science, Osaka City University, Osaka (Japan)

2013-12-10

442

Solar activity and oscillation frequency splittings  

NASA Technical Reports Server (NTRS)

Solar p-mode frequency splittings, parameterized by the coefficients through order N = 12 of a Legendre polynomial expansion of the mode frequencies as a function of m/L, were obtained from an analysis of helioseismology data taken at Big Bear Solar Observatory during the 4 years 1986 and 1988-1990 (approximately solar minimum to maximum). Inversion of the even-index splitting coefficients confirms that there is a significant contribution to the frequency splittings originating near the solar poles. The strength of the polar contribution is anti correlated with the overall level or solar activity in the active latitudes, suggesting a relation to polar faculae. From an analysis of the odd-index splitting coefficients we infer an uppor limit to changes in the solar equatorial near-surface rotatinal velocity of less than 1.9 m/s (3 sigma limit) between solar minimum and maximum.

Woodard, M. F.; Libbrecht, K. G.

1993-01-01

443

Divided Opinions on the Split Fovea  

ERIC Educational Resources Information Center

We explain once again the distinction between the "split fovea theory" and the "bilateral projection theory", and consider the implications of the two theories for understanding the processing of centrally fixated words and faces.

Ellis, Andrew W.; Brysbaert, Marc

2010-01-01

444

Splitting a Default Theory Hudson Turner  

E-print Network

Splitting a Default Theory Hudson Turner Department of Computer Sciences University of Texas at Austin Austin, TX 78712-1188, USA hudson@cs.utexas.edu Abstract This paper presents mathematical results

Turner, Hudson

445

Rating of Mixed Split Residential Air Conditioners  

E-print Network

A methodology is presented for rating the performance of mixed, split residential air conditioners. The method accounts for the impact on system performance of the indoor evaporator, expansion device and fan; three major components that are likely...

Domanski, P. A.

1988-01-01

446

Optical monitoring and detection of spinal cord ischemia.  

PubMed

Spinal cord ischemia can lead to paralysis or paraparesis, but if detected early it may be amenable to treatment. Current methods use evoked potentials for detection of spinal cord ischemia, a decades old technology whose warning signs are indirect and significantly delayed from the onset of ischemia. Here we introduce and demonstrate a prototype fiber optic device that directly measures spinal cord blood flow and oxygenation. This technical advance in neurological monitoring promises a new standard of care for detection of spinal cord ischemia and the opportunity for early intervention. We demonstrate the probe in an adult Dorset sheep model. Both open and percutaneous approaches were evaluated during pharmacologic, physiological, and mechanical interventions designed to induce variations in spinal cord blood flow and oxygenation. The induced variations were rapidly and reproducibly detected, demonstrating direct measurement of spinal cord ischemia in real-time. In the future, this form of hemodynamic spinal cord diagnosis could significantly improve monitoring and management in a broad range of patients, including those undergoing thoracic and abdominal aortic revascularization, spine stabilization procedures for scoliosis and trauma, spinal cord tumor resection, and those requiring management of spinal cord injury in intensive care settings. PMID:24358279

Mesquita, Rickson C; D'Souza, Angela; Bilfinger, Thomas V; Galler, Robert M; Emanuel, Asher; Schenkel, Steven S; Yodh, Arjun G; Floyd, Thomas F

2013-01-01

447

Macroscopic sites of anesthetic action: brain versus spinal cord.  

PubMed

1. General anesthesia is achieved by anesthetic action in the central nervous system (CNS). 2. Whereas amnesia and unconsciousness are due to anesthetic action in the brain, recent evidence suggests that immobility in response to a noxious stimulus is achieved by anesthetic effects in the spinal cord. The putative spinal cord site(s) include dorsal horn cells and motor neurons. 3. The extent to which anesthetic action in the brain influences the spinal cord probably varies among anesthetics. Furthermore, anesthetics can indirectly influence the brain by their actions within the spinal cord, i.e. by modulating ascending transmission of sensory information. PMID:10049180

Antognini, J F; Carstens, E

1998-11-23

448

Calcified vocal cord nodule - a unique case report.  

PubMed

Vocal cord nodules are benign neoplastic lesions which occur due to submucosal oedema and haemorrhage, leading to fibrosis and hyalinization. Calcification in vocal cord nodules has not been reported so far in literature. It is thought to be a laryngeal counterpart of idiopathic calcinosis cutis. Here, we are reporting a case of a 38-year-old male patient who presented with a change in voice, which had a duration of one month. Laryngoscopic examination revealed a globular, yellowish white, sessile mass which arose from anterior commissure region of right vocal cord. Micro laryngeal excision was done. Histopathological examination was suggestive of a calcified nodule in vocal cord. PMID:24783113

Sundarapandian, S; Suresh, Revathy V

2014-03-01

449

Cord Blood Transplantation: Can We Make it Better?  

PubMed Central

Umbilical cord blood is an established source of hematopoietic stem cells for transplantation. It enjoys several advantages over bone marrow or peripheral blood, including increased tolerance for Human Leukocyte Antigen mismatches, decreased incidence of graft-versus-host disease, and easy availability. Unrelated cord blood does have limitations, however, especially in the treatment of adults. In the 24?years since the first umbilical cord blood transplant was performed, significant progress has been made, but delayed hematopoietic engraftment and increased treatment-related mortality remain obstacles to widespread use. Here we summarize the latest results of unrelated cord blood transplants, and review strategies under investigation to improve clinical outcomes. PMID:24062989

Metheny, Leland; Caimi, Paolo; de Lima, Marcos

2013-01-01

450

Cord blood banking: what nurses and healthcare providers should know.  

PubMed

Although the use of embryonic stem cells to treat disease has caused much controversy, one type of stem cell treatment has slowly and steadily shown promise but has not engendered negative ethical media attention: the use of umbilical stem cells. Umbilical cord blood (UCB) contains stem cells that have already successfully treated a variety of diseases, including leukemias, lymphomas, hemoglobinopathies, immunodeficiencies, and disorders of metabolism; ongoing research continues to explore additional diseases for potential treatment. Cord blood can be stored in private banks or public banks. Private cord blood banks save cord blood for use by the family only, at a cost. Public cord blood banks accept donations and the cord blood is then used for the general public and/or research. A review of the literature finds that public banking is the preferred recommendation over private unless there is a known family member with a disease that can currently be treated with cord blood. This article discusses cord blood banking options as well as the ethical issues and barriers facing both healthcare providers and patients when dealing with cord blood banking. PMID:21918487

Abdullah, Yasmin

2011-01-01

451

Antenna Splitting Functions for Massive Particles  

SciTech Connect

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

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

2011-06-22

452

Patterns of hippocampal abnormalities in malformations of cortical development  

PubMed Central

Objective To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities. Methods A total of 122 consecutive patients with MRI diagnosis of MCD (53 males, age range 1–58 years) were included in the study. Hippocampal measurements were made on 1–3?mm coronal T1?weighted MRIs and compared with MRIs of normal controls. Results A total of 39 patients had focal cortical dysplasia, 5 had hemimegalencephaly, 5 had lissencephaly?agyria?pachygyria, 11 had SLH, 11 had PNH, 12 had bilateral contiguous PNH, 5 had schizencephaly, and 34 had polymicrogyria. The frequency of hippocampal abnormalities in these patients with MCD was 29.5%. A small hippocampus was present in all types of MCD. Only patients with lissencephaly and SLH had an enlarged hippocampus. Abnormalities in hippocampal rotation and shape were present in all types of MCD; however, these predominated in PNH. None of the patients with lissencephaly?agyria?pachygyria or SLH had hyperintense signal on T2 or FLAIR images or abnormal hippocampal internal architecture. Conclusion A small hippocampus was present in all types of MCD; however, the classic MRI characteristics of hippocampal sclerosis were often lacking. Abnormal enlargement of the hippocampus was associated with only diffuse MCD due to abnormal neuronal migration (lissencephaly?agyria?pachygyria and SLH). PMID:16484646

Montenegro, M A; Kinay, D; Cendes, F; Bernasconi, A; Bernasconi, N; Coan, A C; Li, L M; Guerreiro, M M; Guerreiro, C A M; Lopes?Cendes, I; Andermann, E; Dubeau, F; Andermann, F

2006-01-01

453

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

PubMed Central

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

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

2012-01-01

454

Decompressive craniectomy for arteriovenous malformation-related intracerebral hemorrhage.  

PubMed

Arteriovenous malformation (AVM)-related intracerebral hemorrhage (ICH) is the cause of approximately 2-3% of ICH and is an important factor in the significant morbidity and mortality in patients with AVM. Decompressive craniectomy (DC) is a surgical procedure to relieve malignant elevation of intracranial pressure. The use of DC to treat patients with AVM-ICH has been much less common. The present study describes our experience with DC for AVM-ICH and discusses the safety of this procedure. The present retrospective analysis compared 12 consecutive patients treated with DC for AVM-ICH with 23 patients treated with DC for hypertensive ICH. Nine patients were male and three were female, aged from 11 to 53years (mean, 31.7years). Hematoma volumes ranged from 50 to 106ml (mean, 75.8ml). The outcomes were good recovery in one patient, moderate disability in three, severe disability in seven, and vegetative state in one. Complications after DC included subdural hygroma in four patients, hydrocephalus in one, intracranial infection in two, and intracranial hemorrhage in one. No significant difference was found in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. In conclusion, the present study found no significant difference in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. Further investigations including a prospective randomized trial are needed to confirm the safety and efficacy of DC for the treatment of large AVM-ICH. PMID:25564272

Takeuchi, Satoru; Takasato, Yoshio; Masaoka, Hiroyuki; Nagatani, Kimihiro; Otani, Naoki; Wada, Kojiro; Mori, Kentaro

2015-03-01

455

Transcription Factor Sp3 Knockout Mice Display Serious Cardiac Malformations?  

PubMed Central

Mice lacking the zinc finger transcription factor specificity protein 3 (Sp3) die prenatally in the C57BL/6 background. To elucidate the cause of mortality we analyzed the potential role of Sp3 in embryonic heart development. Sp3 null hearts display defective looping at embryonic day 10.5 (E10.5), and at E14.5 the Sp3 null mutants have developed a range of severe cardiac malformations. In an attempt to position Sp3 in the cardiac developmental hierarchy, we analyzed the expression patterns of >15 marker genes in Sp3 null hearts. Expression of cardiac ankyrin repeat protein (Carp) was downregulated prematurely after E12.5, while expression of the other marker genes was not affected. Chromatin immunoprecipitation analysis revealed that Sp3 is bound to the Carp promoter region in vivo. Microarray analysis indicates that small-molecule metabolism and cell-cell interactions are the most significantly affected biological processes in E12.5 Sp3 null myocardium. Since the epicardium showed distension from the myocardium, we studied expression of Wt1, a marker for epicardial cells. Wt1 expression was diminished in epicardium-derived cells in the myocardium of Sp3 null hearts. We conclude that Sp3 is required for normal cardiac development and suggest that it has a crucial role in myocardial differentiation. PMID:17923686

van Loo, Pieter Fokko; Mahtab, Edris A. F.; Wisse, Lambertus J.; Hou, Jun; Grosveld, Frank; Suske, Guntram; Philipsen, Sjaak; Gittenberger-de Groot, Adriana C.

2007-01-01

456

Gastric foregut cystic developmental malformation: Case series and literature review  

PubMed Central

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

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

2015-01-01

457

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

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

Porter, Forbes D.; Herman, Gail E.

2011-01-01

458

Thoracoscopic resection of congenital cystic adenomatoid malformation in an adolescent.  

PubMed

Congenital cystic adenomatoid malformation (CCAM) in adolescents or adults is extremely rare. In this case study, a 17-year-old boy was admitted to our clinic for the treatment of a giant bulla in the lower lobe of the right lung. Preoperative imaging studies led to the diagnosis of cystic lung disease. The patient underwent wedge resection of the right lower lobe with VATS, and histological examination confirmed the presentation of type 1 CCAM. A thoracoscopic lobectomy was performed after the second surgery because of postoperative air leakage.Herein, we report a case of CCAM in an adolescent. VATS was a suitable procedure for the operation. Between the parenchyma-saving resection and lobectomy for CCAM, we believe that the lobectomy is the better treatment option when the extent of the disease cannot be determined clearly or it is extremely large. Therefore, strategies for deciding between parenchyma-saving resection and lobectomy for the treatment of CCAM should be developed. PMID:23347706

Shimizu, Seiichi; Yamashita, Yoshinori; Mukaida, Hidenori; Hirabayashi, Naoki; Egawa, Hiromi; Kaneko, Mayumi; Sakatani, Akio; Takiyama, Wataru

2013-02-01

459

ADVANCED MAGNETIC RESONANCE IMAGING OF CEREBRAL CAVERNOUS MALFORMATIONS  

PubMed Central

Objective We sought to assess the appearance of cerebral cavernous malformations (CCMs) on magnetic resonance (MR) imaging in murine Ccm1 and Ccm2 gene knockout models, and to develop a technique of lesion localization for correlative pathobiologic studies Methods Brains from eighteen CCM mutant mice (Ccm1+/-Trp53-/- and Ccm2+/-Trp53-/-) and 28 controls were imaged by gradient recalled echo (T2*)-weighted MR at 4.7 T and 14.1 T in vivo and/or ex vivo. After MR imaging, the brains were removed and stained with hematoxylin and eosin and cells were laser microdissected for molecular biologic studies. Results T2*-weighted MR imaging of brains in vivo and ex vivo revealed lesions similar to human CCMs in mutant mice, but not in control animals. Stereotactic localization and hematoxylin and eosin-staining of correlative tissue sections confirmed lesion histology, and revealed other areas of dilated capillaries in the same brains. Some lesions were identified by MR imaging at 14.1 T, but not at 4.7 T. PCR amplification from Ccm1 and ?-actin genes was demonstrated from nucleic acids extracted from laser microdissected lesional and perilesional cells. Conclusions The high field MR imaging techniques offer new opportunities for further investigation of disease pathogenesis in vivo, and the localization, staging and histobiologic dissection of lesions, including the presumed earliest stages of CCM lesion development. PMID:18981891

Shenkar, Robert; Venkatasubramanian, Palamadai N.; Wyrwicz, Alice M.; Zhao, Jin-cheng; Shi, Changbin; Akers, Amy; Marchuk, Douglas A.; Awad, Issam A.

2008-01-01

460

Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

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

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

1996-03-29

461

Neocortical malformation as consequence of nonadaptive regulation of neuronogenetic sequence  

NASA Technical Reports Server (NTRS)

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

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

2000-01-01

462

Presurgical planning for arteriovenous malformations using multidetector row CT.  

PubMed

Microsurgical resection remains an important treatment for cerebral arteriovenous malformations (AVMs). We developed an accurate method for planning AVM resections using multidetector row CT (MDCT). Between January 2007 and January 2011, 21 consecutive patients with AVMs were enrolled in this study. Sixteen patients were symptomatic, and of these, 15 had a hemorrhagic onset. Preoperative CT angiography (CTA) was performed using an MDCT scanner (GE Lightspeed VCT; GE Healthcare, Milwaukee, WI, USA). In total, 1 to 1.2 mL/kg of iopamidol, a low-osmolar iodinated contrast material, was administered intravenously with the bolus tracking method. In all cases, three-dimensional CTA imaging demonstrated critical arterial feeders and their specific geometric associations with the nidus. Accurate visualization of the architecture of AVMs and surgical trajectory was possible with the volume rendering method, especially when using transparency imaging. Additionally, employing feeder extraction imaging with segmentation post-processing, clear preoperative identification of the feeding arteries around the surrounding structures allowed for not only intraoperative orientation but also planning for presurgical embolization. Moreover, the precise anatomical structures of the brain surface were obtained using fusion imaging with MRI. While it is difficult to scientifically assign a value to a technology, we sought to objectively assess the utility of the currently available CTA. The significant benefits of this modality for presurgical planning include enhanced surgeon confidence and optimization of the sequence of surgical procedures. PMID:22437568

Mikami, Takeshi; Hirano, Tohru; Sugino, Toshiya; Miyata, Kei; Iihoshi, Satoshi; Wanibuchi, Masahiko; Mikuni, Nobuhiro

2012-07-01

463

An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis  

PubMed Central

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

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

2014-01-01

464

Cerebral cavernous malformations: clinical insights from genetic studies.  

PubMed

Familial disease is responsible for one third to one half of cerebral cavernous malformation (CCM) cases presenting to clinical attention. Much has been learned in the past decade about the genetics of these cases, which are all inherited in an autosomal dominant pattern, at three known chromosome loci. Unique features of inherited CCMs in Hispanic-Americans of Mexican descent have been described. The respective genes for each locus have been identified and preliminary observations on disease pathways and mechanisms are coming to light, including possible explanations for selectivity of neural milieu and relationships to endothelial layer abnormalities. Mechanisms of lesion genesis in cases of genetic predisposition are being investigated, with evidence to support a two-hit model emerging from somatic mutation screening of the lesions themselves and from lesion formation in transgenic murine models o