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Sample records for split cord malformation

  1. Split cord malformation type I distal to segmental myelomeningocele

    PubMed Central

    Addas, Bassam M.

    2014-01-01

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

  2. Split cervical spinal cord malformation and vertebral dysgenesis.

    PubMed

    Andro, C; Pecquery, R; De Vries, P; Forlodou, P; Fenoll, B

    2009-11-01

    We report a case of vertebral malformation associated with diplomyelia believed to be a type II split cord malformation. Cervicothoracic level cases are exceptional. This article reports the case of an 11-year-old boy with no neurological symptoms who had not undergone surgery. The diagnosis was made during pregnancy by prenatal screening with ultrasound and MRI. Several embryological theories have been offered to provide an explanation for this syndrome. Close follow-up is mandatory. Surgery must only be considered if neurological deterioration occurs.

  3. Concurrent split cord malformation and teratoma: dysembryology, presentation, and treatment.

    PubMed

    Babu, Ranjith; Reynolds, Renee; Moreno, Jessica R; Cummings, Thomas J; Bagley, Carlos A

    2014-02-01

    Split cord malformation (SCM) is a rare form of spinal dysraphism in which the spinal cord is divided in the sagittal plane, forming a double neural tube. In addition to being associated with a variety of malformations, SCM may occur with spinal cord tumors, with only exceptional cases involving teratomas. As only eight patients with a teratoma associated with SCM have been reported, their presentation characteristics and treatment are currently unclear. We review the literature of all patients with SCM with concurrent spinal teratoma, discuss the potential dysembryology, and report the first case of SCM with concurrent spinal teratoma in an elderly patient. The mean age of those with concurrent SCM and teratomas was 39.4 years, with 55.6% occurring in females. The lumbar spine was the most frequent location for teratomas (66.7%), with the Type II malformation more commonly occurring with these tumors (75%). The duration of symptoms varied widely, ranging from 1 month to 5 years, with the average duration being nearly 2 years. Back pain (87.5%) and lower extremity weakness (75%) were the most common presenting symptoms. As SCM may be associated with progressive neurological deterioration and teratomas can contain immature or malignant components, surgery should be attempted with the goal of gross total resection. Nonetheless, in patients with a concurrent tumor and spinal dysraphism, spinal teratomas should be considered in the differential diagnosis. Gross total resection of these lesions may be safely achieved even in the presence of SCM using intraoperative electrophysiologic monitoring.

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

    PubMed Central

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

    2012-01-01

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

  5. Tethered cord syndrome secondary to the unusual constellation of a split cord malformation, lumbar myelomeningocele, and coexisting neurenteric cyst.

    PubMed

    Okechi, Humphrey; Albright, A Leland; Nzioka, Ancent

    2012-01-01

    We describe a seminal case report of a child with a tethered cord syndrome secondary to the unusual constellation of a split cord malformation, lumbar myelomeningocele, and coexisting neurenteric cyst. A 17-year-old adolescent girl with a several-month history of myelopathy and urinary incontinence was examined whose spinal MRI scan demonstrated a type II split cord malformation with a large bone spur and an intradural neurenteric cyst in addition to lumbar myelomeningocele. Untethering of the spinal cord was achieved via a lumbar laminectomy. Pathological examination confirmed the intradural cyst to be a neurenteric cyst. Postoperatively there was stabilization of the neurological symptoms. Prophylactic surgery with total resection of the neurenteric cyst when feasible and spinal cord un-tethering appears to be associated with excellent outcomes.

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

    PubMed

    Yilmaz, Muhammet Bahadır; Kaymak, Aysegul; Kurt, Gokhan; Percin, Ferda Emriye; Baykaner, Kemali

    2013-01-01

    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.

  7. Staged corrective surgery for complex congenital scoliosis and split cord malformation.

    PubMed

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

    2009-09-01

    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.

  8. Myelomeningocele associated with split cord malformation type I -three case reports-.

    PubMed

    Higashida, Tetsuhiro; Sasano, Mari; Sato, Hironobu; Sekido, Ken'ichi; Ito, Susumu

    2010-01-01

    Three neonates presented with split cord malformation (SCM) associated with myelomeningocele (MMC), complicated with various coexisting anomalies. All patients were female and classified as SCM type I. All patients had a syrinx located rostral to the SCM. One patient had hydrocephalus and Chiari malformation causing serious respiratory problems. Two patients had partial hypertrichosis located close to the MMC, suggesting association with SCM. One patient had sacral hypoplasty and right kidney agenesis, suggesting that some embryologic errors may affect not only neural but also mesodermal development. All patients underwent surgical treatment for SCM after detailed evaluation and management of concomitant anomalies, and developed no new neurological deficits. Delayed surgery is an alternative treatment strategy for SCM in patients with both SCM and MMC with similar complications.

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  11. Congenital malformations of the spinal cord without early symptoms.

    PubMed

    Moffie, D; Stefanko, S Z; Makkink, B

    1986-01-01

    Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory.

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

    SciTech Connect

    Palmer, S.E.; Wijsman, E.M.; Stephens, K.; Evans, J.P. ); Scherer, S.W.; Tsui, L.C. ); Kukolich, M. )

    1994-07-01

    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.

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

    SciTech Connect

    Evans, J.P.; Palmer, S.E.; Wijsman, E.M.

    1994-09-01

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

  14. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series.

    PubMed

    Arora, Nikhil; Juneja, Ruchika; Meher, Ravi; Bhargava, Eishaan K

    2016-09-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition.

  15. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    PubMed Central

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

    2016-01-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

  16. beta-amyloid protein of Alzheimer's disease is found in cerebral and spinal cord vascular malformations.

    PubMed Central

    Hart, M. N.; Merz, P.; Bennett-Gray, J.; Menezes, A. H.; Goeken, J. A.; Schelper, R. L.; Wisniewski, H. M.

    1988-01-01

    Congo/Red deposition with birefringence to polarized light was demonstrated focally in cerebrovascular malformations removed surgically from 4 older patients (ages 85, 74, 74, and 63), and in a spinal cord vascular malformation in a 76-year-old patient. Lesser degrees of Congophilic change were observed in cerebrovascular malformations screened from 4 of 10 patients between the ages of 30 and 59. No Congophilic change was seen in 10 cerebrovascular malformations removed from patients under 30 years of age. Congophilic areas in all cases decorated with W-2 and 85/45 polyclonal antibodies raised to peptide sequences of cerebrovascular beta-amyloid and beta-amyloid of senile plaques from patients with Alzheimer's disease. Thus, the amyloid in these vascular malformations is immunologically related to beta-amyloid protein. This finding provides another indication that vascular beta-amyloid deposition is not specific for Alzheimer's disease and suggests that an existing abnormality of vessels may be a predisposing factor. Images Figure 1 Figure 2A Figure 2B Figure 3 Figure 4 PMID:3293463

  17. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

    PubMed Central

    Gu, Shen; Posey, Jennifer E.; Yuan, Bo; Carvalho, Claudia M.B.; Luk, H.M.; Erikson, Kelly; Lo, Ivan F.M.; Leung, Gordon K.C.; Pickering, Curtis R.; Chung, Brian H.Y.; Lupski, James R.

    2015-01-01

    Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternally inherited triplications separated by a copy-number neutral region at 17p13.3, involving BHLHA9 and part of YWHAE. Here, we describe an 18-month-old male sibling of the previously described fetus with split-hand malformation. Custom high-density array and digital droplet PCR revealed the copy-number gains were actually quadruplications in the mother, the fetus and her later born son. This quadruplication-normal-quadruplication pattern was shown to be expanded from the triplication-normal-triplication CNV at the same loci in the maternal grandmother. We mapped two breakpoint junctions and demonstrated that both are mediated by Alu repetitive elements and identical in these four individuals. We propose a three-step process combining Alu-mediated replicative-repair-based mechanism(s) and intergenerational, intrachromosomal non-allelic homologous recombination to generate the quadruplications in this family. PMID:26549411

  18. Evidence of endothelial progenitor cells in the human brain and spinal cord arteriovenous malformations

    PubMed Central

    Gao, Peng; Chen, Yongmei; Lawton, Michael T.; Barbaro, Nicholas M.; Yang, Guo-Yuan; Su, Hua; Ling, Feng; Young, William L.

    2010-01-01

    Objective Brain and spinal cord arteriovenous malformations (AVMs) are characterized by aberrant angiogenesis and vascular remodeling. Endothelial progenitor cells (EPCs) can be recruited by stromal cell-derived factor-1 (SDF-1), and participate in vascular remodeling in both physiological and pathological settings. We hypothesized that there was increased EPC levels in the brain and spinal cord AVM nidus. Methods Microsurgical specimens without endovascular embolization and radiosurgery from the brain (n=12) and spinal cord (n=5) AVMs were examined. Hemangioblastoma, meningioma, cerebral cortex obtained from epilepsy surgery, and the basilar artery (BA) from the autopsy were chosen for control comparisons. EPCs were identified as cells that were double-positive for the stem cell marker CD133 and the endothelial cell marker VEGFR-2 (vascular endothelial growth factor receptor-2 or KDR). In addition, SDF-1 was characterized by immunohistochemistry. Results Both brain and spinal AVM tissues displayed more CD133, SDF-1, and CD68-positive signals than epilepsy and basilar artery control tissues. The level of EPCs was increased in the brain and spinal cord AVM nidus, mainly at the edge of the vessel wall. The expression of SDF-1 was co-localized with CD31-positive and α-smooth muscle cells, and was predominantly found within the vessel wall. Conclusion Our data demonstrate that EPCs are present in the nidus of the brain and spinal cord AVMs, which may mediate pathological vascular remodeling and impact the clinical course of AVMs. PMID:20881566

  19. Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

    PubMed Central

    Sivasankaran, Aswini; Srikanth, Ambika; Kulshreshtha, Pooja S.; Anuradha, Deenadayalu; Kadandale, Jayarama S.; Samuel, Chandra R.

    2016-01-01

    Split hand/foot malformation (SHFM) or ectrodactyly is a rare genetic condition affecting limb development. SHFM shows clinical and genetic heterogeneity. It can present as an isolated form or in combination with additional anomalies affecting the long bones (nonsyndromic form) or other organ systems including the craniofacial, genitourinary and ectodermal structures (syndromic ectrodactyly). This study reports a girl with SHFM who also exhibited developmental delay, mild dysmorphic facial features and sensorineural hearing loss. High-resolution banding analysis indicated an interstitial deletion within the 7q21 band. FISH using locus-specific BAC probes confirmed the microdeletion of 7q21.3. Chromosomal microarray analysis also revealed a microdeletion of 1.856 Mb in 7q21.3. However, a larger 8.44-Mb deletion involving bands 7q21.11q21.2 was observed, and the breakpoints were refined. The phenotype and the candidate genes underlying the pathogenesis of this disorder are discussed. PMID:27022330

  20. Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

    PubMed

    Kyrklund, Kristiina; Pakarinen, Mikko P; Taskinen, Seppo; Kivisaari, Reetta; Rintala, Risto J

    2016-12-01

    OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

  1. Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective.

    PubMed

    Klar, Amar J S

    2015-12-01

    Three unrelated chromosome 2q14.1-14.2 region translocations caused the split hand/foot limb malformation development in humans by an unknown mechanism. Their etiology was described by the autosomal dominant inheritance with incomplete penetrance genetic model although authors stated, "the understanding of the genotype-to-phenotype relationship has been most challenging". The conundrums are that no mutation was found in known genes located at or near the translocation breakpoints, some limbs were malformed while others were not in the same patient and surprisingly breakpoints lie at relatively large distance of more than 2.5 million bases to have caused disorder-causing gene mutations in a single gene. To help understand translocations etiology for limb development, we invoke the selective DNA strand/chromatid-specific epigenetic imprinting and segregation mechanism employed by the two highly diverged fission yeasts to produce daughter cells of different cell types by mitosis. By this mechanism, an anterior- and posterior-limb-tissues-generating pair of daughter cells is produced by a single deterministic cell dividing in the anlagen of the limb bud. Accordingly, malformation develops simply because translocations hinder the proper distribution of chromatid-specific epialleles of a limb developmental gene during the deterministic cell's mitosis. It is tempting to speculate that such a mechanism might involve the HOXD-cluster genes situated centromere-distal to the translocation breakpoints many million bases away at the 2q31.1 region. Further genetic tests of the hypothesis are proposed for the human and mouse limb development. In sum, genetic analysis of translocations suggests that the sequence asymmetry of strands in the double-helical DNA structure of a developmental gene forms the physical basis of daughter cells' developmental asymmetry, thus opposing the morphogen-gradient research paradigm of limb development.

  2. Dlx5 Homeodomain: DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome

    DOE PAGES

    Proudfoot, Andrew; Axelrod, Herbert L.; Geralt, Michael; ...

    2016-01-29

    The Dlx5 homeodomain is a transcription factor related to the Drosophila Distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including Split Hand and Foot Malformation-1 (SHFM-1) in humans. Our characterization of a Dlx5 homeodomain–(CGACTAATTAGTCG)2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85 Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A remarkably subtle mutation, Q186H, is linked to SHFM-1;more » this change likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and likely destabilize the formation of functional complexes.« less

  3. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

    PubMed Central

    Klar, Amar J. S.

    2016-01-01

    Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a chromosomal epigenetic mechanism for limb development. It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. Accordingly, one daughter cell inherits both expressed DLX5 copies while the other daughter inherits both epigenetically silenced ones from a single deterministic cell of the developing limb. Thus, differentiated daughter cells after further proliferation will correspondingly produce proximal/distal-limb tissues. Published results of a Chr. 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5-region inversions have satisfied key genetic and developmental biology predictions of the mechanism. Further genetic tests of the mechanism are proposed. We propose that the DNA double helical structure itself causes the development of sister cells' gene regulation asymmetry. We also argue against the conventionally invoked morphogen model of development. This article is part of the themed issue ‘Provocative questions in left–right asymmetry’. PMID:27821526

  4. Dlx5 Homeodomain: DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome

    SciTech Connect

    Proudfoot, Andrew; Axelrod, Herbert L.; Geralt, Michael; Fletterick, Robert J.; Yumoto, Fumiaki; Deacon, Ashley M.; Elsliger, Marc-André; Wilson, Ian A.; Wüthrich, Kurt; Serrano, Pedro

    2016-01-29

    The Dlx5 homeodomain is a transcription factor related to the Drosophila Distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including Split Hand and Foot Malformation-1 (SHFM-1) in humans. Our characterization of a Dlx5 homeodomain–(CGACTAATTAGTCG)2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85 Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A remarkably subtle mutation, Q186H, is linked to SHFM-1; this change likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and likely destabilize the formation of functional complexes.

  5. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.

    PubMed

    Klar, Amar J S

    2016-12-19

    Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a chromosomal epigenetic mechanism for limb development. It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. Accordingly, one daughter cell inherits both expressed DLX5 copies while the other daughter inherits both epigenetically silenced ones from a single deterministic cell of the developing limb. Thus, differentiated daughter cells after further proliferation will correspondingly produce proximal/distal-limb tissues. Published results of a Chr. 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5-region inversions have satisfied key genetic and developmental biology predictions of the mechanism. Further genetic tests of the mechanism are proposed. We propose that the DNA double helical structure itself causes the development of sister cells' gene regulation asymmetry. We also argue against the conventionally invoked morphogen model of development.This article is part of the themed issue 'Provocative questions in left-right asymmetry'.

  6. FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

    PubMed

    Ohtaka, Kohnosuke; Fujisawa, Yasuko; Takada, Fumio; Hasegawa, Yukihiro; Miyoshi, Tatsuya; Hasegawa, Tomonobu; Miyoshi, Hideaki; Kameda, Hiraku; Kurokawa-Seo, Misuzu; Fukami, Maki; Ogata, Tsutomu

    2017-01-13

    Heterozygous loss-of-function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect (c.289G>A, p.[G97S]; and c.2231G>C, p.[R744T]), and case 3 had a splice donor site mutation (c.1663+1G>T). Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved noncoding exon 1U and impaired FGFR1 expression. Furthermore, consistent with the presence of transcription-related histone marks (e.g., H3K4Me3, H3K4Me1, and H3K27Ac) and multiple transcription factor-binding sites around exon 1U, functional studies demonstrated a marked transactivation function of a 414-bp segment harboring the transcription start site. These results support the relevance of FGFR1 mutations to HH-SHFM, and argue for the presence of the FGFR1 core-promoter elements around exon 1U.

  7. Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia.

    PubMed

    Katarzyna, Mazur-Melewska; Jarosław, Szydłowski; Katarzyna, Jończyk-Potoczna; Wojciech, Służewski; Magdalena, Figlerowicz

    Recurrent bacterial meningitis is a life-threatening infection of the central nervous system that is mostly connected with anatomical abnormalities of the skull, chronic parameningeal infections and immunodeficiencies. It's rarely seen, but when it occurs an extensive investigation should be carried out to discover the responsible factor, so that further episodes can be prevented. We report on a child with split hand and foot (SHFM), confirmed incorrect karyotype 46, XY, t(7:12)(q21.2;q21.3) and a fourth episode of fulminant meningitis caused by penicillin-resistant Streptococcus pneumoniae. After a broad evaluation of factors predisposing to recurrent meningitis, the undiagnosed malformation of his inner and middle ears - Mondini dysplasia was found. We suggest examining all children with SHFM for hearing impairment before they develop recurrent meningitis. The time when the radiological procedure for searching for inner ear dysplasia should be performed could be a controversial issue: before or after the first episode of meningitis. From the epidemiological point of view, high-resolution computer tomography scanning of the temporal bones should be considered after the diagnosis of deafness in a child with SHFM related to 7q21 deletion.

  8. 320-Row Detector Dynamic 4D-CTA for the Assessment of Brain and Spinal Cord Vascular Shunting Malformations. A Technical Note.

    PubMed

    D'Orazio, Federico; Splendiani, Alessandra; Gallucci, Massimo

    2014-12-01

    Shunting vascular malformations of the brain and spinal cord are traditionally studied using digital subtraction angiography (DSA), the current gold standard imaging method routinely used because of its favourable combination in terms of spatial and temporal resolution. Because DSA is relatively expensive, time-consuming and carries a risk of silent embolic events and a small risk of transient or permanent neurologic deterioration, a non-invasive alternative angiographic method is of interest. New 320 row-detector CT scanners allow volumetric imaging of the whole brain with temporal resolution up to ≌ 3 Hz. Those characteristics make computed tomography angiography (CTA) an affordable imaging method to study the haemodynamics of the whole brain and can also be applied to the study of limited portions of the spinal cord. The aim of this paper is to make a brief summary of our experience in studying shunting vascular malformation of the brain and spinal cord using dynamic 4D-CTA, explaining the technical details of the studies performed at our institution, and the state-of-the-art major advantages and drawbacks of this new technique. We found that dynamic 4D-CTA is able to depict the main architectural characteristics of previously untreated vascular shunting malformations both in brain and spinal cord (i.e. their main arterial feeders and draining veins) allowing their correct diagnosis and exhaustive classification, limiting the use of DSA for therapeutic purposes.

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

    PubMed

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

    2014-01-25

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

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

    PubMed

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

    2015-07-01

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

  11. 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

    PubMed

    Niedrist, Dunja; Lurie, Iosif W; Schinzel, Albert

    2009-08-01

    On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1). Considering these findings, we suggest additional SHFM loci on chromosome 4q, 6q and probably 5q. The regions 4q and 6q have already been discussed in the literature as additional SHFM loci. We now show further evidence. In the proposed regions, there are interesting candidate genes such as, on 4q: HAND2, FGF2, LEF1 and BMPR1B; on 5q: MSX2, FLT4, PTX1 and PDLIM7; and on 6q: SNX3, GJA1, HEY2 and Tbx18.

  12. Dlx5 homedomain/DNA complex; Structure, binding and effect of mutations related to split-hand and foot malformation syndrome

    PubMed Central

    Proudfoot, Andrew; Axelrod, Herbert L.; Geralt, Michael; Fletterick, Robert J; Yumoto, Fumiaki; Deacon, Ashley M.; Elsliger, Marc-André; Wilson, Ian A.; Wüthrich, Kurt; Serrano, Pedro

    2016-01-01

    SUMMARY The Dlx5 homeodomain is a transcription factor related to the Drosophila Distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including Split Hand and Foot Malformation-1 (SHFM-1) in humans. Our characterization of a Dlx5 homeodomain–(CGACTAATTAGTCG)2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85 Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A remarkably subtle mutation, Q186H, is linked to SHFM-1; this change likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and likely destabilize the formation of functional complexes. PMID:26829219

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

    PubMed Central

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

    2014-01-01

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

  14. Anorectal malformations

    PubMed Central

    Levitt, Marc A; Peña, Alberto

    2007-01-01

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

  15. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used.

  16. Brain Malformations

    MedlinePlus

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

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

    PubMed

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

    2008-07-01

    Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

  18. Glomuvenous malformations.

    PubMed

    Henning, J Scott; Kovich, Olympia I; Schaffer, Julie V

    2007-01-27

    A 9-year-old girl presented with a congenital, blue-purple, partially compressible plaque with a cobblestone surface on the left lateral foot and ankle. Similar, solitary, blue nodules later appeared elsewhere on the extremities. The lesions were tender to palpation and were associated with spontaneous paroxysms of pain and paresthesias. Histopathologic evaluation of a skin biopsy specimen showed rows of glomus cells that surrounded thin-walled vascular channels, which confirmed the diagnosis of glomuvenous malformations. This autosomal dominant condition, which is due to mutations in the GLMN gene, presents with clinical findings that are distinct from those of familial, multiple, cutaneous and mucosal venous malformations. Treatment options include excision, sclerotherapy, and laser therapy (ablative or pulsed dye).

  19. Chiari Malformation

    MedlinePlus

    ... of the brain stem (the part of the brain that controls nerves in the face, mouth, throat, neck, and spine) down through a funnel-like hole ... relieving them and stopping further damage to the brain and spinal cord. ... headaches and neck pain. They also may recommend limiting activities that ...

  20. Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone.

    PubMed

    Dhandapani, Sivashanmugam; Srinivasan, Anirudh

    2016-01-01

    Triple spinal dysraphism is extremely rare. There are published reports of multiple discrete neural tube defects with intervening normal segments that are explained by the multisite closure theory of primary neurulation, having an association with Chiari malformation Type II consistent with the unified theory of McLone. The authors report on a 1-year-old child with contiguous myelomeningocele and lipomyelomeningocele centered on Type I split cord malformation with Chiari malformation Type II and hydrocephalus. This composite anomaly is probably due to select abnormalities of the neurenteric canal during gastrulation, with a contiguous cascading impact on both dysjunction of the neural tube and closure of the neuropore, resulting in a small posterior fossa, probably bringing the unified theory of McLone closer to the unified theory of Pang.

  1. Atypical presentations in Chiari II malformation.

    PubMed

    Rath, G P; Bithal, P K; Chaturvedi, A

    2006-01-01

    Myelomeningocele with Chiari II malformation and hydrocephalus is a common association seen in infants with a congenital failure of neurulation. Here we report two cases of such an association presenting with different sets of problems. The first patient presented with severe inspiratory stridor due to bilateral abductor vocal cord paralysis, which was relieved completely within 24 h of definitive surgery. The second patient experienced intraoperative cardiac arrest. Definitive surgery was followed after successful cardiopulmonary resuscitation. The cause of the perioperative sequence of events in both cases is attributed to the associated pathologies of Chiari II malformation.

  2. Arnold-Chiari type I malformation presenting as benign paroxysmal positional vertigo in an adult patient.

    PubMed

    Unal, M; Bagdatoglu, C

    2007-03-01

    Arnold-Chiari malformations are a group of congenital hindbrain and spinal cord abnormalities characterized by herniation of the contents of the posterior cranial fossa caudally through the foramen magnum into the upper cervical spine. It is important to recognize Arnold-Chiari type I malformation in the differential diagnosis of adult vertigo cases. We present a 51-year-old patient with Arnold-Chiari type I malformation that was initially diagnosed as posterior semicircular canal benign paroxysmal positional vertigo.

  3. Chiari-I malformation in two fighter pilots.

    PubMed

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F

    2003-07-01

    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  4. Occipitoatlantoaxial malformation in an adult goat.

    PubMed

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

    2008-09-01

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

  5. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures.

  6. Pelvic Vascular Malformations

    PubMed Central

    Christenson, Brian M.; Gipson, Matthew G.; Smith, Mitchell T.

    2013-01-01

    Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults. Since treatment strategy depends on the type of malformation, correct diagnosis and classification of a vascular lesion are crucial. Slow-flow VMs (venous and lymphatic malformations) are often treated by sclerotherapy, whereas fast-flow lesions (arteriovenous malformations) are generally managed with embolization. In addition, some cases of VMs are best treated surgically. This review will present an overview of VMs in the female pelvis as well as a discussion of endovascular therapeutic techniques. PMID:24436563

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

    PubMed

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

    2006-07-01

    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.

  8. [Multiple intracranial arteriovenous malformation].

    PubMed

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

    2015-01-01

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

  9. Rare malformation of glans penis: arteriovenous malformation.

    PubMed

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  10. Radiation-induced spinal cord hemorrhage (hematomyelia).

    PubMed

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

    2014-10-23

    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.

  11. Proteus Syndrome with Arteriovenous Malformation

    PubMed Central

    Asilian, Ali; Kamali, Atefeh Sadat; Riahi, Nabet Tajmir; Adibi, Neda; Mokhtari, Fatemeh

    2017-01-01

    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  12. Split gland

    DOEpatents

    Petranto, Joseph J.

    1989-01-01

    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.

  13. Split gland

    DOEpatents

    Petranto, J.J.

    1989-09-05

    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.

  14. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  15. Arteriovenous Malformation Management

    SciTech Connect

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

    1996-11-15

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

  16. [Intramedullary spinal cord cavernous hemangiomas: clinical features and surgical treatment].

    PubMed

    Ishii, Ken; Nakamura, Masaya

    2011-01-01

    Intramedullary spinal cord cavernous hemangiomas (angiomas) are occult vascular malformations characterized by rare lesions consisting of closely packed capillary-like vessels. In general, patients with this disease become symptomatic because of hemorrhage leads to progressive neurological deficits. Therefore, surgical tumor resection should be considered for symptomatic patients should be considered a surgical tumor resection.

  17. [Diagnostics of genetic malformations in small ruminants].

    PubMed

    Ganter, M

    2013-01-01

    The epidemic occurrence of the Schmallenberg virus has induced numerous congenital malformations in small ruminants. Because of this high incidence of malformed lambs, an overview of the different causes of congenital malformations is provided. The most frequent infectious and physical causes as well as mineral and vitamin deficiencies and toxic agents which can induce congenital malformations are indicated. This list is supplemented by advice on sampling and laboratory diagnosis for an etiological diagnosis of the malformations.

  18. Temporary umbilical loop colostomy for anorectal malformations.

    PubMed

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

    2012-11-01

    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

  19. Embolization of Arteriovenous Malformation

    PubMed Central

    Nagashima, H.; Hongo, K.; Kobayashi, S.; Takamae, T.; Okudera, H.; Koyama, J.I.; Oya, F.; Matsumoto, Y.

    2004-01-01

    Summary Treatment options for cerebral arteriovenous malformation (AVM) are still controversial due to the recent result of stereotactic radiosurgery and the improved result of microsurgical resection. We investigated previously treated AVM cases and discussed the efficacy and safety of preoperative embolization especially for microsurgical resection of high-grade AVM in the Spetzler-Martin grading. Efficacy of preoperative embolization was evaluated based on 126 previously treated AVM cases at Shinshu University Hospital during the last 25 years. The safety of embolization was evaluated based on our previously-embolized 58 AVM cases (91 procedures) in the last 11 years after introduction of preoperative embolization for AVM. In all 126 cases, 82 were treated before introduction of embolization and 44 were treated after introduction of embolization. In 82 cases of the pre-embolization era, 63 lesions were removed totally in 63 AVMs (77%), partially resected in 11 (13%) and untreated in eight (10%). In 74 surgically removed cases, 11 (15%) cases showed severe intra/postoperative bleeding. In 44 cases of the embolization era, lesions were removed totally in 29 AVMs (66%), disappeared only with embolization in one (2%), disappeared with radiosurgery in seven (16%) and were untreated in five (11%). In 32 surgically removed cases, only one (2%) case showed severe intra/postoperative bleeding. In all 58 embolized cases, 44 were surgically removed, six were treated with radiosurgery, one was eliminated with embolization alone and six were partially obliterated and followed up for their location. In 91 procedures for 58 cases, two haemorrhagic and three ischemic complications occurred, three were transient and two remained having neurological deficits. The introduction of preoperative embolization improved the total removal rate and reduced the intra/postoperative bleeding rate in surgical removal of AVM. The total risk of embolization is low and well-designed preoperative

  20. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

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

  1. Cardiac arteriovenous malformation causing sudden death.

    PubMed

    Aguilera, Beatriz; Suárez-Mier, M Paz; Argente, Trinidad

    2004-01-01

    Cardiac vascular malformations are rare. We report a subendocardial arteriovenous malformation (AVM), associated with extensive myocardial fibrosis, causing sudden death in a 25-year-old woman. To our knowledge, this is the first autopsy case reported.

  2. [SURGICAL TREATMENT OF THE FACE CAPILLARY MALFORMATION].

    PubMed

    Galich, S P; Gindich, O A; Dabizha, A Yu; Ogorodnik, Ya P

    2015-08-01

    Results of surgical treatment of 37 patients for the head and neck capillary malformations were analyzed. Optimal surgical tactics, depending on the malformation form and localization, was proposed. Restitution of the tissues defect after excision of malformation, using the flaps transposition, have permitted to achieve good esthetic results.

  3. Spinal Cord Injury

    MedlinePlus

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

  4. Spinal Cord Injury Map

    MedlinePlus

    ... Counseling About Blog Facing Disability Jeff Shannon Donate Spinal Cord Injury Map Loss of function depends on what ... control. Learn more about spinal cord injuries. A spinal cord injury affects the entire family FacingDisability is designed ...

  5. Spinal Cord Tumor

    MedlinePlus

    Spinal cord tumor Overview By Mayo Clinic Staff A spinal tumor is a growth that develops within your ... as vertebral tumors. Tumors that begin within the spinal cord itself are called spinal cord tumors. There are ...

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

    PubMed

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

    2012-02-01

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

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

    PubMed

    Guillen, A; Costa, J M

    2004-02-01

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

  8. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    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

  9. Genetic causes of vascular malformations.

    PubMed

    Brouillard, Pascal; Vikkula, Miikka

    2007-10-15

    Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.

  10. Polysplenia with pulmonary arteriovenous malformations.

    PubMed

    Papagiannis, J; Kanter, R J; Effman, E L; Pratt, P C; Marcille, R; Browning, I B; Armstrong, B E

    1993-03-01

    A patient with polysplenia syndrome, dextrocardia, left atrial isomerism, normal great vessel relationships, and no intracardiac shunts developed progressive cyanosis and clubbing. Pulmonary arteriovenous malformations (PAVMs) were diagnosed by angiography and confirmed by lung biopsy. Superior mesenteric arteriogram revealed hypoplasia of the intrahepatic portal vein branches and a portosystemic shunt. The possible etiologies of PAVMs are discussed.

  11. Arteriovenous malformation of the uterus.

    PubMed

    Dodia, Nazera; George, Suku

    2015-09-17

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

  12. Thermocouple split follower

    DOEpatents

    Howell, deceased, Louis J.

    1980-01-01

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

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

    SciTech Connect

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

    1983-02-01

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

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

    PubMed Central

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

    2012-01-01

    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

  15. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

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

  16. Ischemic spinal cord infarction in children without vertebral fracture

    PubMed Central

    Nance, Jessica R.; Golomb, Meredith R.

    2007-01-01

    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

  17. Multiple cavernous malformations with supravermian arachnoid cyst.

    PubMed

    Unalp, Aycan; Uran, Nedret

    2007-11-01

    Cerebral cavernous malformation are congenital vascular abnormalities that have been reported in 0.4% of the population; they represent 5-13% of all cerebrovascular malformations. Onset of cerebral cavernous malformations may be associated with seizures, intracranial hemorrhages, focal neurological deficit or migraine-type headaches. Some patients may require surgical intervention due to hemorrhage. Multiple cavernomas in childhood have been reported in the literature, but they are rare. This manuscript presents a 12-year-old girl with multiple cavernomas accompanied by supravermian arachnoid cyst detected by neuroimaging techniques. This is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern.

  18. Spinal Cord Injury

    MedlinePlus

    ... care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the ... care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the ...

  19. Spinal Cord Injuries

    MedlinePlus

    ... your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or ... bone disks that make up your spine. Most injuries don't cut through your spinal cord. Instead, ...

  20. Glass tube splitting tool

    NASA Technical Reports Server (NTRS)

    Klein, J. A.; Murray, C. D.; Stein, J. A.

    1971-01-01

    Tool accurately splits glass tubing so cuts are aligned 180 deg apart and reassembled tube forms low pressure, gastight enclosure. Device should interest industries using cylindrical closed glass containers.

  1. Concentric Split Flow Filter

    NASA Technical Reports Server (NTRS)

    Stapleton, Thomas J. (Inventor)

    2015-01-01

    A concentric split flow filter may be configured to remove odor and/or bacteria from pumped air used to collect urine and fecal waste products. For instance, filter may be designed to effectively fill the volume that was previously considered wasted surrounding the transport tube of a waste management system. The concentric split flow filter may be configured to split the air flow, with substantially half of the air flow to be treated traveling through a first bed of filter media and substantially the other half of the air flow to be treated traveling through the second bed of filter media. This split flow design reduces the air velocity by 50%. In this way, the pressure drop of filter may be reduced by as much as a factor of 4 as compare to the conventional design.

  2. Radiosurgery for brainstem arteriovenous malformation.

    PubMed

    Maruyama, Keisuke; Koga, Tomoyuki; Niranjan, Ajay; Kondziolka, Douglas; Flickinger, John C; Lunsford, L Dade

    2013-01-01

    The authors outlined the treatment result of arteriovenous malformations (AVMs) inside the brainstem by reviewing the 4 existing studies in detail. The majority of patients with brainstem AVMs had a history of hemorrhage, leading to neurological deficits at the time of treatment in 72-73% of patients. The most frequent location was the midbrain or the pons depending on studies, while the medulla oblongata was the least common location throughout the series. The obliteration rate after radiosurgery was 44-73%, which was generally lower than in other locations, while the complication rate was 5-14%, which was expectedly higher than in other locations. No objective evidence for size is known, and therefore, patient selection and treatment planning should be carefully performed after judicious assessment of treatment risks and benefits among limited treatment options.

  3. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

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

  4. New insights into craniofacial malformations

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2014-12-01

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

  6. Chiari malformation, cervical disc prolapse and syringomyelia--always think twice.

    PubMed

    Ball, Jonathon R; Little, Nicholas S

    2008-04-01

    We present the case of a 36-year-old man with neck pain and parasthesia of both upper limbs. Magnetic resonance imaging demonstrated a cervical disc protrusion with spinal cord compression, a Chiari I malformation and cervical syringomyelia. On clinical grounds it was suspected that the cervical stenosis was the symptomatic pathology and an anterior cervical decompression was performed, followed by arthroplasty. Post-operative imaging demonstrated adequate canal decompression, preserved cervical mobility and near-complete resolution of the syrinx. Syringomyelia has a multitude of causes and synchronous pathology can occur. Cervical spondylosis is infrequently associated with syringomyelia. Chiari I malformations are increasingly incidentally detected and asymptomatic. This first report of arthroplasty for cervical spondylosis associated with syringomyelia adds to the growing body of experience with this new technology.

  7. Genetic Basis of Brain Malformations

    PubMed Central

    Parrini, Elena; Conti, Valerio; Dobyns, William B.; Guerrini, Renzo

    2016-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations. More recent studies have also established a relationship between lissencephaly, with or without associated microcephaly, corpus callosum dysgenesis as well as cerebellar hypoplasia, and at times, a morphological pattern consistent with polymicrogyria with mutations of several genes (TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, and DYNC1H1), regulating the synthesis and function of microtubule and centrosome key components and hence defined as tubulinopathies. MCD only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular heterotopia, have been associated with abnormalities of the DCX, FLN1A, and ARFGEF2 genes and cause neurological and cognitive impairment that vary from severe to mild deficits. Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration. Localized polymicrogyria has been associated with anatomo-specific deficits, including disorders of language and higher cognition. Polymicrogyria is genetically heterogeneous, and only in a small minority of patients, a definite genetic cause has been identified. Megalencephaly with normal cortex or polymicrogyria by MRI imaging, hemimegalencephaly and focal cortical dysplasia can all result from mutations in genes of the PI3K-AKT-mTOR pathway. Postzygotic mutations have been described for most MCD and can be limited to the dysplastic tissue in the

  8. Renal tract malformations: perspectives for nephrologists.

    PubMed

    Kerecuk, Larissa; Schreuder, Michiel F; Woolf, Adrian S

    2008-06-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young children, it is now possible to prevent the early death of at least some individuals with severe malformations. Other renal tract malformations, such as congenital pelviureteric junction obstruction and primary vesicoureteric reflux, are relatively common. Renal tract malformations are, collectively, the major cause of childhood end-stage renal disease. Their contribution to the number of adults on renal replacement therapy is less clear and has possibly been underestimated. Renal tract malformations can be familial, and specific mutations of genes involved in renal tract development can sometimes be found in affected individuals. These features provide information about the causes of malformations but also raise questions about whether to screen relatives. Whether prenatal decompression of obstructed renal tracts, or postnatal initiation of therapies such as prophylactic antibiotics or angiotensin blockade, improve long-term renal outcomes remains unclear.

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

    NASA Astrophysics Data System (ADS)

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

    2009-02-01

    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.

  10. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  11. Anterior commissure absence without callosal agenesis: a new brain malformation.

    PubMed

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  12. Glomuvenous malformation: magnetic resonance imaging findings.

    PubMed

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA.

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

    PubMed

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

    2013-09-06

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

  14. Inner ear malformations: a practical diagnostic approach.

    PubMed

    Mazón, M; Pont, E; Montoya-Filardi, A; Carreres-Polo, J; Más-Estellés, F

    2016-12-29

    Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

  15. Venous malformations: clinical diagnosis and treatment

    PubMed Central

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W.; Khademhosseini, Ali

    2016-01-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies. PMID:28123976

  16. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

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

  17. Spontaneous thrombosis of vein of Galen malformation

    PubMed Central

    Kariyappa, Kalpana Devi; Krishnaswami, Murali; Gnanaprakasam, Francis; Ramachandran, Madan; Krishnaswamy, Visvanathan

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare intracranial vascular malformation. Before the advent and advancement of various endovascular techniques, there was dismal prognosis. Rarely, this condition may spontaneously thrombose without the need for surgical or endovascular treatment with good prognosis. We report a case of an 8-month-old infant who had serial imaging, suggestive of VOGM and presented to us for further management, wherein the imaging revealed spontaneous thrombosis. PMID:27857804

  18. The Microcephaly-Capillary Malformation Syndrome

    PubMed Central

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

    2012-01-01

    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

  19. Split spline screw

    NASA Technical Reports Server (NTRS)

    Vranish, John M. (Inventor)

    1993-01-01

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

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

    PubMed

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

    2011-04-15

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

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

    PubMed Central

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

    2011-01-01

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

  2. Stabilized Zeeman split laser

    NASA Technical Reports Server (NTRS)

    1981-01-01

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

  3. [Intracranial arteriovenous malformations in Taiwan].

    PubMed

    Lin, L S; Shih, C J

    1993-12-01

    This paper analyzes the available literature on intracranial arteriovenous malformations (AVM) in Taiwan. The incidence and symptoms of the disease are studied with a view to assisting practitioners in its recognition. The incidence of intracranial AVM in patients who have suffered hemorrhagic stroke in Taiwan is 2.5% to 4.8%, with the male to female ratio being 1.5:1. The peak age at which bleeding from intracranial AVM occurred ranged from 10 to 40 years; bleeding showed no seasonal variation. Sudden headaches, vomiting, and disturbance of consciousness were the commonest presenting symptoms of AVM, similar to the rupture of intracranial aneurysms. However, the possibility of focal neurological deficit among patients with intracranial AVM was higher than in patients with intracranial aneurysms. Risk factors, such as hypertension, diabetes mellitus, heart disease, smoking and alcohol intake showed no close relationship to bleeding in intracranial AVM. Pregnancy is not a risk factor in female patients with intracranial AVM with no history of hemorrhage. Small intracranial AVM are more likely to bleed. Since 1961 the majority of Taiwan's intracranial AVM patients have been treated surgically, while before that date general medicine was the treatment of choice. In recent years, several developments such as operation microscope, microsurgical instruments and microsurgical techniques have enhanced the efficacy of surgical intervention in the treatment of AVM. When the mortality and morbidity rates resulting from the two forms of treatment are compared, surgical treatment shows a better prognosis for the treatment of intracranial AVM.

  4. Splitting of asphaltene species

    SciTech Connect

    Galimov, R.A.; Yusupova, T.N.; Abushaeva, V.V.

    1994-05-10

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

  5. Split image optical display

    DOEpatents

    Veligdan, James T.

    2005-05-31

    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.

  6. Split image optical display

    DOEpatents

    Veligdan, James T.

    2007-05-29

    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.

  7. The Splitting Loope

    ERIC Educational Resources Information Center

    Wilkins, Jesse L. M.; Norton, Anderson

    2011-01-01

    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…

  8. Split-Level Flexibility.

    ERIC Educational Resources Information Center

    Roberson, Kelly

    1997-01-01

    Presents photographs and the floor plan of a middle school whose split-level design separates "noisy" areas, such as the band room and gymnasium, from the academic wing. The design encourages teaming and flexibility through its classroom clustering and mobile partitions between classrooms. Additionally, all classrooms possess windows and…

  9. The Splitting Group

    ERIC Educational Resources Information Center

    Norton, Anderson; Wilkins, Jesse L. M.

    2012-01-01

    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…

  10. Virus-induced congenital malformations in cattle.

    PubMed

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

    2015-09-24

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

  11. [Venous malformations: clinical characteristics and differential diagnosis].

    PubMed

    Casanova, D; Boon, L-M; Vikkula, M

    2006-01-01

    Venous malformations (VM) are localized defects of blood vessels that are due to vascular dysmorphogenesis. These slow-flow lesions can affect any tissue or organ. Clinically, a cutaneous VM is characterized by a bluish mass that is compressible on palpation. Phleboliths are commonly present. Symptoms depend on location and size. VM are often sporadic and isolated, however, they can be associated with other malformations and be part of a syndrome; Klippel-Trenaunay (capillary-lymphatico-venous malformation with limb hypertrophy) is the most common. Glomuvenous malformation (GVM) is another type of venous anomaly. In contrast to VM, GVM is often painful on palpation and not compressible. Clinical diagnosis of VM is often made in the presence of a bluish cutaneous lesion: however, other lesions can mimick VM. The most frequent anomalies are a blue naevus, a hemorrhagic lymphatic malformation, a sub-cutaneous hemangioma or even the presence of dilated superficial normal veins due to underlying venous stenoses. This chapter will detail the clinical characteristics of venous anomalies and their differential diagnosis.

  12. Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.

    PubMed

    Sztriha, László; Johansen, Johan G

    2005-06-01

    We review 25 patients with a spectrum of hindbrain (cerebellum, pons, and medulla) malformations from a cohort of children with high parental consanguinity rate. Twenty-three of the 25 patients were born to consanguineous parents. The patients were classified in four groups. Eleven patients of 6 families had malformation of the hindbrain and midbrain with molar tooth sign (10 patients of 5 families with typical Joubert syndrome), 5 patients showed severe supratentorial anomalies in addition to the hindbrain malformations, 5 patients had pontocerebellar or cerebellar hypoplasia with anterior horn cell disease in the spinal cord (spinal muscular atrophy), and 4 patients showed malformations affecting predominantly the hindbrain without substantial involvement of other systems. A locus for Joubert syndrome was previously identified on chromosome 9q34.3 in two families, and a second locus on chromosome 11p12-q13.3 in another family. A third Joubert syndrome locus has been mapped at 6q23 and a mutation in the AHI1 gene at this site has been found recently in a further family from this cohort. Delineation of homogeneous subgroups of patients with hindbrain malformations and molecular genetic analysis of these groups may lead to identification of further loci, genes and mutations responsible for the malformations.

  13. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    PubMed

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  14. Fee splitting in ophthalmology.

    PubMed

    Levin, Alex V; Ganesh, Anuradha; Al-Busaidi, Ahmed

    2011-02-01

    Fee splitting and co-management are common practices in ophthalmology. These arrangements may conflict with the ethical principles governing the doctor-patient relationship, may constitute professional misconduct, and at times, may be illegal. Implications and perceptions of these practices may vary between different cultures. Full disclosure to the patient may minimize the adverse effects of conflicts of interest that arise from these practices, and may thereby allow these practices to be deemed acceptable by some cultural morays, professional guidelines, or by law. Disclosure does not necessarily relieve the physician from a potential ethical compromise. This review examines the practice of fee splitting in ophthalmology, its legal implications, the policies or guidelines governing such arrangements, and the possible ethical ramifications. A comparative view between 3 countries, Canada, the United States, and Oman, was conducted; illustrating that even in disparate cultures, there may be some universality to the application of ethical principles.

  15. Splitting water with cobalt.

    PubMed

    Artero, Vincent; Chavarot-Kerlidou, Murielle; Fontecave, Marc

    2011-08-01

    The future of energy supply depends on innovative breakthroughs regarding the design of cheap, sustainable, and efficient systems for the conversion and storage of renewable energy sources, such as solar energy. The production of hydrogen, a fuel with remarkable properties, through sunlight-driven water splitting appears to be a promising and appealing solution. While the active sites of enzymes involved in the overall water-splitting process in natural systems, namely hydrogenases and photosystem II, use iron, nickel, and manganese ions, cobalt has emerged in the past five years as the most versatile non-noble metal for the development of synthetic H(2)- and O(2)-evolving catalysts. Such catalysts can be further coupled with photosensitizers to generate photocatalytic systems for light-induced hydrogen evolution from water.

  16. TUBE SPLITTING APPARATUS

    DOEpatents

    Frantz, C.E.; Cawley, W.E.

    1961-05-01

    A tool is described for cutting a coolant tube adapted to contain fuel elements to enable the tube to be removed from a graphite moderator mass. The tool splits the tube longitudinally into halves and curls the longitudinal edges of the halves inwardly so that they occupy less space and can be moved radially inwardly away from the walls of the hole in the graphite for easy removal from the graphite.

  17. Ovine craniofacial malformation: a morphometrical study.

    PubMed

    Eriksen, T; Kuiper, H; Pielmeier, R; Ganter, M; Distl, O; Staszyk, C

    2012-12-01

    Craniofacial malformation in 64 sheep was phenotypically described as mandibular distoclusion. Digital radiographs were examined in order to determine the degree of morphological changes in certain bones of the skull. Therefore, laterolateral standardised digital radiographs were used to determine anatomic reference points. Subsequently, five reference lines were defined and 16 linear and seven angular measurements were determined to describe malformations in the bones of the skull. Statistical analysis revealed a significant shortening of the rostral part of the corpus mandibulae and of the ramus mandibulae. However, the molar part of the mandible remained unchanged. These morphological changes caused premolar and molar malocclusion. No further craniofacial abnormalities, such as an elongation of the maxilla or of the incisive bone, were identified. In conclusion, the phenotypically observed mandibular distoclusion is caused by a shortening of specific parts of the mandible. This form of ovine craniofacial malformation is therefore best described as brachygnathia inferior.

  18. Debendox in early pregnancy and fetal malformation.

    PubMed

    Fleming, D M; Knox, J D; Crombie, D L

    1981-07-11

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.

  19. Debendox in early pregnancy and fetal malformation.

    PubMed Central

    Fleming, D M; Knox, J D; Crombie, D L

    1981-01-01

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic. PMID:6789952

  20. [Diagnosis and management of Mondini malformation].

    PubMed

    Yang, W; Fang, Y; Yang, S

    1997-02-01

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

  1. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

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

    PubMed Central

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

    2010-01-01

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

  3. Variations of Cords of Brachial Plexus and Branching Pattern of Nerves Emanating From Them.

    PubMed

    Singh, Rajani

    2017-03-01

    Brachial plexus is complex network of nerves, formed by joining and splitting of ventral rami of spinal nerves C5, C6, C7, C8, and T1 forming trunks, divisions, and cords. The nerves emerging from trunks and cords innervate the upper limb and to some extent pectoral region. Scanty literature describes the variations in the formation of cords and nerves emanating from them. Moreover, the variations of cords of brachial plexus and nerves emanating from them have iatrogenic implications in the upper limb and pectoral region. Hence study has been carried out. Twenty-eight upper limbs and posterior triangles from 14 cadavers fixed in formalin were dissected and rare and new variations of cords were observed. Most common variation consisted of formation of posterior cord by fusion of posterior division of upper and middle trunk and lower trunk continued as medial cord followed by originating of 2 pectoral nerves from anterior divisions of upper and middle trunk. Other variations include anterior division of upper trunk continued as lateral cord and pierced the coracobrachialis, upper and middle trunk fused to form common cord which divided into lateral and posterior cords, upper trunk gave suprascapular nerve and abnormal lateral pectoral nerve and formation of median nerve by 3 roots. These variations were analyzed for diagnostic and clinical significance making the study relevant for surgeons, radiologists in arresting failure patients and anatomists academically in medical education.

  4. Total knee arthroplasty in vascular malformation

    PubMed Central

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  5. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

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

    2013-06-15

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

  6. Cochlear Implantation in Children with Cochlear Malformation.

    PubMed

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo

    2016-01-01

    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

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

    PubMed

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

    2013-03-23

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

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

    EPA Science Inventory

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

  9. Modeling spinal cord biomechanics

    NASA Astrophysics Data System (ADS)

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

    2012-02-01

    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.

  10. Transection of Spinal Cord

    PubMed Central

    Shulman, Stanford T.; Madden, John D.; Esterly, John R.; Shanklin, Douglas R.

    1971-01-01

    A newborn infant, delivered following mid-forceps rotation, presented with apnoea, anaesthesia below the level of the mid-neck, and flaccid quadriplegia. At necropsy there was transection of the cord, and atlanto-occipital and atlantoaxial dislocations. Cord injury usually follows breech presentation, the lesion is in the lower cervical or upper thoracic segments, and results from excessive traction. By contrast, in the rare cases following cephalic delivery, the lesion is most often in the upper cervical cord and probably results from rotational forces. PMID:5104538

  11. Split Q-balls

    NASA Astrophysics Data System (ADS)

    Bazeia, D.; Losano, L.; Marques, M. A.; Menezes, R.

    2017-02-01

    We investigate the presence of non-topological solutions of the Q-ball type in (1 , 1) spacetime dimensions. The model engenders the global U (1) symmetry and is of the k-field type, since it contains a new term, of the fourth-order power in the derivative of the complex scalar field. It supports analytical solution of the Q-ball type which is stable quantum mechanically. The new solution engenders an interesting behavior, with the charge and energy densities unveiling a splitting profile.

  12. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  13. Chiari I Malformation in Nephropathic Cystinosis

    PubMed Central

    Rao, Kavya I; Hesselink, John; Trauner, Doris A

    2015-01-01

    Objective To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. Study design Magnetic resonance imaging (MRI) scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. Results Ten of 53 (18.9%) cystinosis patients had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. Conclusions Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and MRI scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms. PMID:26265281

  14. Angular craniometry in craniocervical junction malformation.

    PubMed

    Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi

    2013-10-01

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

  15. Congenital Malformations in River Buffalo (Bubalus bubalis).

    PubMed

    Albarella, Sara; Ciotola, Francesca; D'Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-02-10

    The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  16. Differential Gene Expression in Human Cerebrovascular Malformations

    PubMed Central

    Shenkar, Robert; Elliott, J. Paul; Diener, Katrina; Gault, Judith; Hu, Ling-Jia; Cohrs, Randall J.; Phang, Tzulip; Hunter, Lawrence; Breeze, Robert E.; Awad, Issam A.

    2009-01-01

    OBJECTIVE We sought to identify genes with differential expression in cerebral cavernous malformations (CCMs), arteriovenous malformations (AVMs), and control superficial temporal arteries (STAs) and to confirm differential expression of genes previously implicated in the pathobiology of these lesions. METHODS Total ribonucleic acid was isolated from four CCM, four AVM, and three STA surgical specimens and used to quantify lesion-specific messenger ribonucleic acid expression levels on human gene arrays. Data were analyzed with the use of two separate methodologies: gene discovery and confirmation analysis. RESULTS The gene discovery method identified 42 genes that were significantly up-regulated and 36 genes that were significantly down-regulated in CCMs as compared with AVMs and STAs (P = 0.006). Similarly, 48 genes were significantly up-regulated and 59 genes were significantly down-regulated in AVMs as compared with CCMs and STAs (P = 0.006). The confirmation analysis showed significant differential expression (P < 0.05) in 11 of 15 genes (angiogenesis factors, receptors, and structural proteins) that previously had been reported to be expressed differentially in CCMs and AVMs in immunohistochemical analysis. CONCLUSION We identify numerous genes that are differentially expressed in CCMs and AVMs and correlate expression with the immunohistochemistry of genes implicated in cerebrovascular malformations. In future efforts, we will aim to confirm candidate genes specifically related to the pathobiology of cerebrovascular malformations and determine their biological systems and mechanistic relevance. PMID:12535382

  17. Congenital Malformations in River Buffalo (Bubalus bubalis)

    PubMed Central

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  18. Spinal cord trauma

    MedlinePlus

    ... Oh's Intensive Care Manual . 7th ed. Philadelphia, PA: Elsevier; 2014:chap 78. Bryce TN. Spinal cord injury. ... Physical Medicine and Rehabilitation . 5th ed. Philadelphia, PA: Elsevier; 2016:chap 49. Dalzell K, Nouri A, Fehlings ...

  19. Tethered Spinal Cord Syndrome

    MedlinePlus

    ... the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of ... or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after ...

  20. Spinal Cord Injury 101

    MedlinePlus Videos and Cool Tools

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

  1. 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 — ...

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

    PubMed

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

    2016-03-01

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

  3. Triclosan/triclocarban levels in maternal and umbilical blood samples and their association with fetal malformation.

    PubMed

    Wei, Ling; Qiao, Pengyun; Shi, Ying; Ruan, Yan; Yin, Jie; Wu, Qingqing; Shao, Bing

    2017-03-01

    Triclosan (TCS) and triclocarban (TCC) are widely used as antimicrobial compounds in consumer products. TCS and TCC are frequently found in waste water and sewage. In this study, we investigate the potential impact of exposure to triclosan (TCS) and triclocarban (TCC) on fetal abnormalities. We measured TCS and TCC levels in maternal and umbilical cord blood samples from 39 pregnant women diagnosed with fetal or post-birth abnormalities at Beijing Obstetrics and Gynecology Hospital. 52 pregnant women who gave birth to healthy neonates during the same period of time were included as controls. Applying ultra-performance liquid chromatography-tandem mass spectrometry, TCS and TCC concentrations were measured in maternal and fetal sera. Significantly increased levels of TCS were detected in maternal sera from mothers with abnormal births. Similar levels of TCS or TCC were found in maternal and cord sera in control group. The concentrations of TCS or TCC in maternal sera correlated with those in umbilical cord sera (r=0.649, P<0.01). These observations suggest that maternal blood test could be a useful assay for detecting fetal exposure to TCS and TCC, and high exposure to TCS may be potentially associated with increased risk for fetal malformations.

  4. Comet LINEAR Splits Further

    NASA Astrophysics Data System (ADS)

    2001-05-01

    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

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

    PubMed

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

    2015-05-01

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

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

    SciTech Connect

    Sahgal, Arjun Chuang, Cynthia; Larson, David; Huang, Kim; Petti, Paula; Weinstein, Phil; Ma Lijun

    2008-10-01

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

  7. [Cord blood banking].

    PubMed

    Cepulić, Branka Golubić; Bojanić, Ines; Mazić, Sanja

    2009-06-01

    Transplantation of cord blood stem cells is a new and rapidly developing area. It has been used as a treatment for many diseases such as hematologic malignancies, primary immune deficiencies and metabolic diseases. Recently, stem cells have been used in regenerative medicine, particularly in neurodegenerative and cardiovascular diseases. For these reasons interest has been growing in banking cord blood. To be able to find an acceptable donor for any recipient in need, it is necessary to have on stock a great diversity of cells with different genetic types from different populations. Networks of banks and registries have been created around the world in order to share and exchange transplants. Public banks organize collection for altruistic donor of cord blood for unrelated hematopoietic stem cell transplantation and for directed donation in families at risk. But there are increasing numbers of families that are requesting storage of cord blood for possible future therapeutic use in the family. Establishment of cord blood banks has raised a number of important scientific, legal, ethical and political issues, which are discussed in this paper.

  8. Canine spinal cord glioma.

    PubMed

    Rissi, Daniel R; Barber, Renee; Burnum, Annabelle; Miller, Andrew D

    2017-01-01

    Spinal cord glioma is uncommonly reported in dogs. We describe the clinicopathologic and diagnostic features of 7 cases of canine spinal cord glioma and briefly review the veterinary literature on this topic. The median age at presentation was 7.2 y. Six females and 1 male were affected and 4 dogs were brachycephalic. The clinical course lasted from 3 d to 12 wk, and clinical signs were progressive and associated with multiple suspected neuroanatomic locations in the spinal cord. Magnetic resonance imaging of 6 cases revealed T2-weighted hyperintense lesions with variable contrast enhancement in the spinal cord. All dogs had a presumptive clinical diagnosis of intraparenchymal neoplasia or myelitis based on history, advanced imaging, and cerebrospinal fluid analysis. Euthanasia was elected in all cases because of poor outcome despite anti-inflammatory or immunosuppressive treatment or because of poor prognosis at the time of diagnosis. Tumor location during autopsy ranged from C1 to L6, with no clear predilection for a specific spinal cord segment. The diagnosis was based on histopathology and the immunohistochemistry expression of glial fibrillary acidic protein, oligodendrocyte lineage transcription factor 2, 2',3'-cyclic-nucleotide 3'-phosphodiesterase, neuron-specific enolase, synaptophysin, and Ki-67. Diagnoses consisted of 4 cases of oligodendroglioma, 2 cases of gliomatosis cerebri, and 1 astrocytoma. This case series further defines the clinicopathologic features of canine spinal glioma and highlights the need for comprehensive immunohistochemistry in addition to routine histopathology to confirm the diagnosis of these tumors.

  9. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  10. Arteriovenous malformation in chronic gastrointestinal bleeding.

    PubMed Central

    Cavett, C M; Selby, J H; Hamilton, J L; Williamson, J W

    1977-01-01

    Arteriovenous malformations of the gastrointestinal tract are uncommon and treatment is problematic because routine barium contrast studies and endoscopy fail to demonstrate the lesion. Diagnosis is by selective mesenteric arteriography, demonstrating a characteristic vascular tuft and very early venous phase. Two cases of arteriovenous malformation are presented and 47 other reported cases are reviewed. Forty-five per cent were found in the cecum; 37, or 80%, involved the distal ileum, cecum ascending colon, or hepatic flexure. Seventy-five per cent of all patients fall into the 50--80 year age range. The literature reveals a recurring pattern of chronic gastrointestinal blood loss, anemia, and delay (even negative abdominal explorations) before the diagnosis is finally made. A more aggressive approach to chronic gastrointestinal bleeding is suggested through the use of selective mesenteric arteriography. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. PMID:299801

  11. Animal Models in Studying Cerebral Arteriovenous Malformation.

    PubMed

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

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

  12. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

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

  13. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.

  14. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

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

  15. Arteriovenous malformations: epidemiology and clinical presentation.

    PubMed

    Laakso, Aki; Hernesniemi, Juha

    2012-01-01

    Arteriovenous malformations (AVMs) of the brain are relatively rare congenital developmental vascular lesions. They may cause hemorrhagic stroke, epilepsy, chronic headache, or focal neurologic deficits, and the incidence of asymptomatic AVMs is increasing due to widespread availability of noninvasive imaging methods. Since the most severe complication of an AVM is hemorrhagic stroke, most epidemiologic studies have concentrated on the hemorrhage risk and its risk factors. In this article, the authors discuss the epidemiology, presenting symptoms, and hemorrhage risk associated with brain AVMs.

  16. Overview of Spinal Cord Disorders

    MedlinePlus

    ... cord consists of gray matter shaped like a butterfly: The front "wings" (anterior or motor horns) contain ... In the center of the spinal cord, a butterfly-shaped area of gray matter helps relay impulses ...

  17. Living with Spinal Cord Injury

    MedlinePlus

    ... to send and receive messages to and from the brain. About 200,000 people in the United States have spinal cord injuries. Most injuries occur from a traumatic event, according to the National Spinal Cord Injury ...

  18. Umbilical cord care in newborns

    MedlinePlus

    ... the stump clean with gauze and water only. Sponge bathe the rest of your baby, as well. ... Neonatal care - umbilical cord Images Umbilical cord healing Sponge bath References Carlo WA, Ambalavanan N. The umbilicus. ...

  19. Debendox and congenital malformations in Northern Ireland.

    PubMed Central

    Harron, D W; Griffiths, K; Shanks, R G

    1980-01-01

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached. PMID:7437804

  20. Debendox and congenital malformations in Northern Ireland.

    PubMed

    Harron, D W; Griffiths, K; Shanks, R G

    1980-11-22

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached.

  1. A new flux splitting scheme

    NASA Technical Reports Server (NTRS)

    Liou, Meng-Sing; Steffen, Christopher J., Jr.

    1991-01-01

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

  2. Split supersymmetry radiates flavor

    NASA Astrophysics Data System (ADS)

    Baumgart, Matthew; Stolarski, Daniel; Zorawski, Thomas

    2014-09-01

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

  3. Vein of Galen Aneurysmal Malformation: Prognostic Markers Depicted on Fetal MRI

    PubMed Central

    Wagner, Matthias W; Vaught, Arthur J; Poretti, Andrea; Blakemore, Karin J

    2015-01-01

    Fetal magnetic resonance imaging (MRI) serves a dual role in the prenatal diagnostic work up of a vein of Galen aneurysmal malformation (VGAM). First, it may confirm the prenatal ultrasound findings and secondly it may identify prognostically important secondary complications of the VGAM. Progressive heart failure with development of fetal hydrops and hemispheric white matter injuries are associated with a poor outcome in children with a VGAM. We present the prenatal findings using both ultrasound and MRI of a fetus with VGAM including bilateral injury of the cerebral hemispheres, severe dilatation of the jugular veins, cardiomegaly, and hydrops fetalis. The neonate died within 30 minutes after delivery. Moreover, fetal MRI revealed complete placenta praevia, uterine fibroids, and wrapping of the umbilical cord around the fetal neck. This additional information is unrelated to the fetal pathology, but could have been of importance to plan the delivery. PMID:25924177

  4. Malformations in neotropical viperids: qualitative and quantitative analysis.

    PubMed

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

    2013-11-01

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

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

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

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

  6. Hemangiomas and Vascular Malformations: Current Theory and Management

    PubMed Central

    Richter, Gresham T.; Friedman, Adva B.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular 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

  7. Chiari Type I malformation presenting with bilateral hearing loss.

    PubMed

    Dolgun, Habibullah; Turkoglu, Erhan; Kertmen, Hayri; Yilmaz, Erdal R; Sekerci, Zeki

    2009-09-01

    Chiari Type I malformations can present with several clinical signs and symptoms. We describe a 44-year-old female patient presenting with bilateral hearing loss with hydrocephalus coexisting with Chiari Type I malformation and a unilateral arachnoid cyst. Thus, sensorineural hearing loss may be caused by hydrocephalus with Chiari Type I malformation. The placement of a ventriculoperitoneal shunt without a posterior fossa decompression is an effective treatment.

  8. [Diagnosis of fetal malformations with ultrasound--state of development].

    PubMed

    Fendel, M; Fendel, H

    1983-01-01

    Ultrasonography is of great importance for the prenatal diagnosis of fetal malformations and abnormalities. An early diagnosis in the second trimester is of great interest for an intrauterine or an extrauterine therapy planning (the choice of the time and mode of delivery). Defects of the neural tube including hydrocephalus, malformations of the extremities, the gastrointestinal tract, omphaloceles, the urogenital and cardiac system are described. Four cases of fetal malformations are presented: fetal myelomeningocele, hydrocephalus, bilateral hydronephrosis and lymphangioma with fetal ascites.

  9. [Cord blood banks].

    PubMed

    Buljan Culej, Jasminka

    2007-12-01

    Cord blood is an excellent source of stem cells which are universal for all other cells of the whole body. They have the ability to develop in any of the body cells, depending on stimulation by different growth factors. The ease of sampling, cryopreservation, and above all successful engraftment make placental blood a possible alternative for bone marrow donation. The advantages of cord blood cells over bone marrow stem cells in allogeneic transplants include their young age and immature status, which reduce the severity of graft versus host reaction. However, the number of cells is much more limited than with bone marrow (about ten time less); therefore, for the time being, the procedure is not equivalent to marrow donation. Cord blood banks would increase HLA diversity, and they are therefore expected to solve two sets of immunogenetic problems: (1) since less stringent compatibility is needed, children with a rare HLA group could benefit from a graft when the donor is not perfectly matched; and (2) HLA types infrequently represented in registries may be represented more readily in placental blood banks; although they occur repeatedly in certain ethnic groups or populations, they are only rarely donated to volunteer registries, while these populations are also concerned in transplantation. Many countries in the world have recognized the significance of collecting and preserving cord blood stem cells and their ability to heal or at least improve life.

  10. Apparatus Splits Glass Tubes Longitudinally

    NASA Technical Reports Server (NTRS)

    Shaw, Ernest; Manahan, Robert O'neil

    1993-01-01

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

  11. Split-illumination electron holography

    SciTech Connect

    Tanigaki, Toshiaki; Aizawa, Shinji; Suzuki, Takahiro; Park, Hyun Soon; Inada, Yoshikatsu; Matsuda, Tsuyoshi; Taniyama, Akira; Shindo, Daisuke; Tonomura, Akira

    2012-07-23

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

  12. Notch receptor expression in human brain arteriovenous malformations.

    PubMed

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

    2015-08-01

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

  13. A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage.

    PubMed

    Supakul, Nucharin; Fan, Rong; Karmazyn, Boaz

    2012-12-01

    Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting. The child had diffuse intraparenchymal hemorrhage throughout the right lower and middle lobes and underwent resection. Pathology confirmed the diagnosis of venous malformation complicated with bleeding.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-01-01

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

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

    PubMed

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

    2010-03-01

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

  17. Genomic causes of multiple cerebral cavernous malformations in a Japanese population.

    PubMed

    Tsutsumi, Satoshi; Ogino, Ikuko; Miyajima, Masakazu; Ikeda, Tomomi; Shindo, Noriko; Yasumoto, Yukimasa; Ito, Masanori; Arai, Hajime

    2013-05-01

    Cerebral cavernous malformation (CCM) is a hamartomatous vascular disease affecting the central nervous system. A fraction of CCM are thought to arise in association with genomic mutations in the cerebral cavernous malformation 1 (CCM1) (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) genes. In the present study, 18 Japanese patients with multiple CCM (10 with familial type and eight with sporadic type), underwent genomic analysis for CCM1, CCM2 and CCM3 mutations with blood samples and surgical specimens. MRI showed CCM in the cerebral hemisphere in 17 patients, the cerebellum in 10, the brainstem in 10 and the spinal cord in eight. CCM2 mutations were the most prominent, followed by CCM1 and CCM3. CCM1, CCM2 and CCM3 mutations were not identified in seven patients. Among the 10 patients with familial CCM, CCM1, CCM2 and CCM3 mutations were found in two, three and one patient, respectively, whereas four patients lacked these mutations. Among the eight patients with sporadic CCM, these mutations were found in one, three, and one patients, respectively, whereas three patients lacked these mutations. Most of the patients had a stable course during the follow-up period. Genomic mutations other than CCM1, CCM2 and CCM3 may be frequent in patients with multiple CCM in the Japanese population.

  18. Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

    PubMed Central

    Yang, Im-Yong; Yum, Mi-Sun; Kim, Eun-Hee; Choi, Hae-Won; Yoo, Han-Wook

    2016-01-01

    Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay. PMID:27462358

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

    PubMed

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

    2014-03-01

    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.

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

    PubMed Central

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

    2014-01-01

    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

  1. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

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

    2014-01-01

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

  2. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

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

    2014-01-01

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

  3. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

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

  4. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

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

    2009-01-01

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

  5. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

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

    2016-03-01

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

  6. [Recurrent meningitis in inner ear malformations].

    PubMed

    Claros, Pedro; Matusialk, Monika

    2008-01-01

    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  7. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  8. Intrapulmonary arteriovenous malformation causing recurrent strokes

    PubMed Central

    Abed, Kareem; Premachandra, Lalith; Vankawala, Viren; Sun, Qi

    2015-01-01

    This case reveals a left pulmonary arteriovenous malformation (PAVM) as a cause of recurrent cerebral and cerebellar emboli. Extensive workup excluded other etiologies of emboli formation, and the patient was transferred to a tertiary care center for percutaneous embolotherapy. In the absence of a clear etiology, PAVM should be considered as a potential cause of recurrent cerebral emboli, especially in the absence of carotid disease, intracardiac thrombus, atrial septal defect, and patent foramen ovale. Diagnostic work-up for the PAVM can be cost effective and expedited by utilization of agitated saline contrast echocardiography, as noted in our case. PMID:26486114

  9. Photocatalytic water splitting

    NASA Astrophysics Data System (ADS)

    Kuo, Yenting

    New photocatalystic materials Ti-In oxy(nitride) and nanosized Ru-loaded strontium titanate doped with Rh (Ru/SrTiO3:Rh) have been synthesized. The textural and surface characteristic properties were studied by nitrogen BET analysis, diffuse reflectance UV-vis spectroscopy, X-ray photoelectron spectroscopy, transmission electron microscopy, scanning electron microscopy and powder XRD. The photocatalytic properties were enhanced by the binary metal oxides of titanium dioxide and indium oxide. The XRD patterns confirmed the oxygen exchange between two metal oxides during the synthesis. Moreover, the presence of titanium dioxide can help the stabilization of InN during hot NH3(g) treatment. On the other hand, the particle sizes of aerogel prepared Ru/SrTiO3:Rh varied from 12 to 25 nm depended on different Rh doping. A mixture of ethanol and toluene was found to be the best binary solvent for supercritical drying, which yielded a SrTiO3 sample with a surface area of 130 m2/g and an average crystallite size of 6 nm. Enhanced photocatalytic hydrogen production under UV-vis light irradiation was achieved by ammonolysis of intimately mixed titanium dioxide and indium oxide at high temperatures. Gas chromatography monitored steadily the formation of hydrogen when sacrificial (methanol or ethanol) were present. XRD patterns confirmed that the photocatalysts maintain crystalline integrity before and after water splitting experiments. Moreover, the presence of InN may be crucial for the increase of hydrogen production activities. These Ru/SrTiO3:Rh photocatalysts have been studied for photocatalytic hydrogen production under visible light. The band gap of the bulk SrTiO 3 (3.2 eV) does not allow response to visible light. However, after doping with rhodium and loaded with ruthenium, the modified strontium titanates can utilize light above 400 nm due to the formation of valence band or electron donor levels inside of the band gap. Moreover, the surface areas of these

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

    PubMed

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

    2014-09-01

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

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

    PubMed Central

    Williams, Helen

    2008-01-01

    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

  12. Entropy Splitting and Numerical Dissipation

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

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

  13. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

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

  14. Stenogyria - not only in Chiari II malformation.

    PubMed

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

    2014-12-15

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

  15. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  16. Sirenomelia and caudal malformations in two families.

    PubMed

    Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

    2012-07-01

    We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans.

  17. The dura causes spinal cord compression after spinal cord injury.

    PubMed

    Saadoun, Samira; Werndle, Melissa C; Lopez de Heredia, Luis; Papadopoulos, Marios C

    2016-10-01

    MR scans from 65 patients with traumatic spinal cord injury were analysed; on admission 95% had evidence of cord compression - in 26% due to the dura, and in the remaining 74% due to extradural factors. Compression due to dural factors resolved with a half-life of 5.5 days. These findings suggest that bony decompression alone may not relieve spinal cord compression in the quarter of patients in whom dural factors are significant.

  18. Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

    PubMed

    Buell, Thomas J; Heiss, John D; Oldfield, Edward H

    2015-10-01

    This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms.

  19. Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus.

    PubMed

    Whipple, Katherine M; Godfrey, Kyle J; Solomon, James P; Lin, Jonathan H; Korn, Bobby S; Kikkawa, Don O

    Glomuvenous malformations (GVMs), previously referred to as glomus tumors or glomangiomas, are benign, mesenchymal venous malformations arising from glomus bodies. Glomus bodies are modified smooth muscle neuromyoarterial structures involved in temperature regulation via blood shunting. These classically occur in the digits but can occur in other locations. The authors present a case of a periorbital GVM presented following blunt trauma to the area.

  20. Congenital plaque-type glomuvenous malformation associated with chylous ascites.

    PubMed

    Tejedor, Maria; Martín-Santiago, Ana; Gómez, Cristina; Fiol, Miquel; Benítez-Segura, Ignacio

    2010-01-01

    Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.

  1. [The progress of inner ear malformation in radiological research].

    PubMed

    Kong, Dehua; Fu, Kuang; Zhao, Hui

    2016-01-01

    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  2. Klippel-Feil syndrome and Dandy-Walker malformation.

    PubMed

    Karaman, A; Kahveci, H

    2011-01-01

    The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation.

  3. Variations of some elements in cadmium-induced malformed fish

    SciTech Connect

    Muramoto, S.

    1981-08-01

    Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

  4. Cord blood banking.

    PubMed

    Warwick, Ruth; Armitage, Sue

    2004-12-01

    Cord blood (CB) is a unique product, rich in haemopoietic stem cells (HSC), that is currently used in the transplantation setting to restore haemopoiesis. It restores haemopoietic stem cell function in patients suffering from malignancies, bone marrow (BM) failure disorders and inherited metabolic and immunological disorders. Related and unrelated CB donations have been successfully transplanted in both the paediatric and adult settings. CB, previously considered a waste product, can be collected from both vaginal deliveries and caesarean sections, either in utero or ex utero, at no risk to the donor, processed to remove excess plasma and red cells, cryopreserved, tested, HLA-typed and stored to provide an 'off-the-shelf' product. CB has a lower risk of some important viral infections and a lower incidence and severity of acute and chronic graft versus host disease (GvHD) than BM. CB transplantation is under innovative development and international collaborative studies are investigating ways to improve transplant outcomes. Other uses for CB remain speculative and it is premature to speculate whether non-haemopoietic stem cells are present in cord blood in sufficient numbers for use against degenerative conditions, as is currently postulated by some commercial organisations. Cord blood banking in EU member countries is now regulated by an EU Directive, which provides a statutory basis for regulation safety to ensure efficacy. Compliance is required by 2006. It requires that all banking establishments are inspected and accredited by a Competent Authority. This includes public altruistic banking as well as directed banking activities.

  5. [Cochlear implant for malformations of the inner ear].

    PubMed

    Aschendorff, A; Laszig, R; Maier, W; Beck, R; Schild, C; Birkenhäger, R; Wesarg, T; Kröger, S; Arndt, S

    2009-06-01

    The radiologic evaluation of the temporal bone in cochlear implant candidates can detect malformations of the inner ear in up to 20% of cases. The aim of our study was to analyze and classify malformations of the inner ear in patients with cochlear implants carried out from 2001 to 2009. Malformations of the inner ear, including malformations of the internal auditory canal were detected in 12.7% of children and 3.4% of adults. Mondini dysplasia was most common and occurred in 45% of cases. The surgical procedure had to be adapted according to the individual malformation. Modification of surgical access, management of intraoperative CSF gusher, choice of electrode array, intraoperative imaging and the use of navigation were the most important factors. Rehabilitation results were generally very positive and corresponded to the expectation depending on the duration of deafness, if no additional handicaps were present.

  6. Malformations of cortical development: genetic mechanisms and diagnostic approach

    PubMed Central

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  7. Venous malformations: classification, development, diagnosis, and interventional radiologic management.

    PubMed

    Legiehn, Gerald M; Heran, Manraj K S

    2008-05-01

    Venous malformations are categorized as low-flow vascular malformations within the domain of vascular anomalies and are the most common vascular malformation encountered clinically. Venous malformations are by definition present at birth, undergo pari passu growth, and present clinically because of symptoms related to mass effect or stasis. Although diagnosis can usually be made by clinical history and examination, differentiation from other vascular and nonvascular entities often requires an imaging work-up that includes ultrasound, CT, MR imaging, and diagnostic phlebography. All decisions regarding imaging work-up and decision to treat must be coordinated though referral and discussions with a multidisciplinary team and be based on clearly defined clinical indications. Percutaneous image-guided sclerotherapy has become the mainstay of treatment for venous malformations and involves the introduction of any one of a number of endothelial-cidal sclerosants into the vascular spaces of the lesion, with each sclerosant possessing its own unique spectrum of advantages and disadvantages.

  8. Cord blood banking in London: the first 1000 collections.

    PubMed

    Armitage, S; Warwick, R; Fehily, D; Navarrete, C; Contreras, M

    1999-07-01

    The London Cord Blood Bank was established with the aim of collecting, processing and storing 10000 unrelated stem cell donations for the significant number of children in the UK requiring transplantation, for whom a matched unrelated bone marrow donor cannot be found. Collection is performed at two hospitals by dedicated cord blood bank staff after delivery of the placenta. Mothers are interviewed regarding medical, ethnic and behavioural history by nurse counsellors and sign a detailed consent form. Donations are returned to the bank for processing. Volume reduction is undertaken by a simple, closed, semi-automated blood processing system, with excellent recovery of progenitor cells. Units are cryopreserved and stored in the vapour phase of liquid nitrogen. Blood samples from mothers and cord blood donations are tested for the UK mandatory red cell and microbiology markers for blood donors. Donations are typed for HLA-A, B and DR at medium resolution (antigen split) level using sequence-specific oligonucleotide probing and sequence-specific priming techniques. The selection of collection hospitals on the basis of ethnic mix has proven effective, with 41.5% of donations derived from non-European caucasoid donors. Bacterial contamination of collections has been dramatically reduced by implementation of improved umbilical cord decontamination protocols.

  9. Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.

    PubMed

    Lee, Seung-Tae; Choi, Ki-Whan; Yeo, Hyung-Tae; Kim, Jong-Won; Ki, Chang-Seok; Cho, Young-Dae

    2008-04-15

    Although cerebral cavernous malformations (CCMs) are not uncommon, the concurrent finding of cavernous malformations (CMs) both in the brain and spinal cord is quite rare. Furthermore, multiple spinal cord CMs are extremely rare with only a few cases being reported thus far. Recently, we encountered a 33-year-old Korean male with both CCM and multiple spinal intramedullary CMs. The patient complained of seizure and right chest paresthesia. The lesions were located throughout the neuraxis including the cerebral hemisphere, brain stem, and cervical and thoracic spinal cords. Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c.103C>T; Arg35X) in the PDCD10 gene, which was reported previously in a CCM family. The patient denied a family history, however, his daughter had an identical mutation, but was asymptomatic. Three months later, after identifying the mutation in the father and the daughter, the daughter presented with seizure. To the best of our knowledge, this is the first report of an association between a mutation in the PDCD10 gene and spinal CMs.

  10. Photoelectrochemical water-splitting systems

    SciTech Connect

    Turner, J.A.; Kocha, S.S.

    1995-10-01

    Photochemical water-splitting is the process where an illuminated semiconductor is used to decompose water into its components, hydrogen and oxygen. Light, incident on a semiconductor electrode, splits water directly. A one-step monolithic system such as this eliminates the need to generate electricity externally and subsequently feed it to an electrolyser. Combining the electrolyser with the PV system eliminates one of the high cost components of a PV-electrolysis hydrogen generation system. Since external wiring is not used, only the piping necessary for the transport of hydrogen to an external storage system or gas pipeline is required. This paper will discuss the current technical status of direct conversion photoelectrochemical (PEC) water-splitting systems.

  11. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

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

    2002-01-01

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

  12. Congenital cardiovascular malformations and the fetal circulation.

    PubMed

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  13. Small Rho-GTPases and cortical malformations

    PubMed Central

    2013-01-01

    Rho-GTPases have been found to be crucial for cytoskeleton remodelling and cell polarity, as well as key players in directed cell migration in various tissues and organs, therefore becoming good candidates for involvement in neuronal migration disorders. We recently found that genetic deletion of the small GTPase RhoA in the developing mouse cerebral cortex results in three distinct cortical malformations: a defect in the proliferation of progenitor cells during development that leads to a bigger cerebral cortex in the adult mouse, a change in the morphology of radial glial cells that results in the formation of a subcortical band heterotopia (SBH, also called Double Cortex) and an increase in the speed of migrating newborn neurons. The latter, together with the aberrant radial glial shape, is likely to be the cause of cobblestone lissencephaly, where neurons protrude beyond layer I at the pial surface of the brain. PMID:23524873

  14. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

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

    2013-11-01

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

  15. Malformations and the Manx Syndrome in Cats

    PubMed Central

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

    1979-01-01

    Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:393376

  16. Cerebral cavernous malformation proteins at a glance.

    PubMed

    Draheim, Kyle M; Fisher, Oriana S; Boggon, Titus J; Calderwood, David A

    2014-02-15

    Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding.

  17. Split ring containment attachment device

    DOEpatents

    Sammel, Alfred G.

    1996-01-01

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

  18. Biphasic water splitting by osmocene

    PubMed Central

    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

    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

  19. Genetic Screening of Pediatric Cavernous Malformations.

    PubMed

    Merello, Elisa; Pavanello, Marco; Consales, Alessandro; Mascelli, Samantha; Raso, Alessandro; Accogli, Andrea; Cama, Armando; Valeria, Capra; De Marco, Patrizia

    2016-10-01

    Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries. A total of 9 typical pathogenic loss-of-function mutations were identified in 10 out 31 patients (32 %). The 75 % of familial cases were mutated and the percentage reached to 85 % when we consider only pediatric cases. Detection rate in sporadic cases with multiple lesions was considerably lower (16 %). We identified a novel variant of CCM3, the c.130-131insT (p.R45Efs*8), in 1 pediatric sporadic case with multiple lesions that introduced a premature termination codon into the messenger RNA (mRNA), most likely leading to mRNA decay. Similar to other CCM pediatric series, the main symptoms associated to clinical debut consisted of cerebral hemorrhage. In conclusion, the penetrance of CCM mutations in familial pediatric cases is high (85 %). The genetic workup could improve clinical and genetic counseling in CCM patients. Moreover, we confirmed the high risk of hemorrhage in children with CCMs.

  20. Outcome of cochlear implantation in children with cochlear malformations.

    PubMed

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

    2015-03-01

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

  1. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    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

  2. Cutting the Cord

    NASA Technical Reports Server (NTRS)

    2004-01-01

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

  3. Cutting the Cord-2

    NASA Technical Reports Server (NTRS)

    2004-01-01

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

  4. Ceramic-Cord Gas Seal

    NASA Technical Reports Server (NTRS)

    Etzel, C. W.

    1983-01-01

    High-temperature gasket material seals at temperatures above 1,100 degrees C. Concentric exhaust pipes are typical of applications in which ceramic-cord seals might be used. Cord is crushed to form seal between inner and outer pipes when inner pipe is expanded into place. Typical applications include engine exhaust ducts or hot pipes passing through firewalls.

  5. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    PubMed

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J

    1998-01-24

    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  6. Congenital inner ear malformations without sensorineural hearing loss in children.

    PubMed

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

    2009-10-01

    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  7. Otosclerosis associated with type B-1 inner ear malformation.

    PubMed

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

    2010-06-01

    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.

  8. [Arteriovenous malformation-glioma association: study of four cases].

    PubMed

    Borges, Lia Raquel R; Malheiros, Suzana M F; Pelaez, Maria Paula; Stávale, João Norberto; Santos, Adrialdo J; Carrete, Henrique; Nogueira, Roberto Gomes; Ferraz, Fernando A P; Gabbai, Alberto A

    2003-06-01

    We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

  9. The Split-Stem Technique

    ERIC Educational Resources Information Center

    Carter, Roy A.

    1972-01-01

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

  10. Torque-Splitting Gear Drive

    NASA Technical Reports Server (NTRS)

    Kish, J.

    1991-01-01

    Geared drive train transmits torque from input shaft in equal parts along two paths in parallel, then combines torques in single output shaft. Scheme reduces load on teeth of meshing gears while furnishing redundancy to protect against failures. Such splitting and recombination of torques common in design of turbine engines.

  11. Retraining the injured spinal cord

    NASA Technical Reports Server (NTRS)

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

    2001-01-01

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

  12. Umbilical cord blood transplantation.

    PubMed

    Koo, Hong Hoe; Ahn, Hyo Seop

    2012-07-01

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

  13. Cool covered sky-splitting spectrum-splitting FK

    SciTech Connect

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

    2014-09-26

    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.

  14. Cool covered sky-splitting spectrum-splitting FK

    NASA Astrophysics Data System (ADS)

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

    2014-09-01

    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.

  15. Type I Chiari malformation presenting central sleep apnea.

    PubMed

    Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

    2014-04-01

    Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis.

  16. Dural arteriovenous malformation: a rare cause of epilepsy in childhood.

    PubMed

    Caksen, H; Unal, O; Tombul, T; Cesur, Y; Abuhandan, M

    2001-09-01

    A 3 year and 6 month old girl with epilepsy associated with dural arteriovenous malformation (DAVM), diagnosed on the MRI, is presented to emphasise the importance of DAVM in the aetiology of childhood epilepsy.

  17. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    PubMed

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  20. Prolonged expiratory apnoea with cyanosis in Arnold Chiari II malformation

    PubMed Central

    Hussain, Nahin

    2017-01-01

    Apnoea associated with Arnold Chiari malformation is a known entity and can be obstructive or central. Differentiating between two types is vital to deciding management pathway and prognosticating disease process. PMID:28321315

  1. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    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

    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

  2. Variants in CUL4B are associated with cerebral malformations.

    PubMed

    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

    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.

  3. Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus

    PubMed Central

    Whipple, Katherine M.; Godfrey, Kyle J; Solomon, James P.; Lin, Jonathan H.; Korn, Bobby S.; Kikkawa, Don O.

    2016-01-01

    Glomuvenous malformations (GVMs), previously referred to as glomus tumors or glomangiomas, are benign, mesenchymal venous malformations arising from glomus bodies. Glomus bodies are modified smooth muscle neuromyoarterial structures involved in temperature regulation via blood shunting. These classically occur in the digits but can occur in other locations. The authors present a case of a periorbital GVM presented following blunt trauma to the area. PMID:27065433

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

    SciTech Connect

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

    1991-02-01

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

  5. Supernumerary nipples and renal malformations: a family study.

    PubMed

    Brown, Justin; Schwartz, Robert A

    2004-01-01

    We describe a family with supernumerary nipples and kidney and urinary tract malformations. The proband is a 59-year-old man with a supernumerary nipple and recently identified hypoplastic kidney, bladder diverticulum, and hypotonic bladder. His mother also has a supernumerary nipple and a recently identified hypoplastic kidney. Of his three children, all male, one has a supernumerary nipple but has not been evaluated for a kidney or urinary tract malformation. This familial disorder is discussed.

  6. Diffuse pulmonary arteriovenous malformation in a child with polysplenia syndrome.

    PubMed

    Kapur, S; Rome, J; Chandra, R S

    1995-01-01

    Pulmonary arteriovenous malformation (PAVM) is usually seen as a well-circumscribed cystic mass. In this communication we describe a diffuse arteriovenous malformation in a 5-month-old infant. The lesion was seen only at the microscopic level and was associated with abdominal heterotaxy, atrial situs solitus, polysplenia, interrupted inferior vena cava, atrial septal defect, and atrioventricular canal. This uncommon association may be within the spectrum of polysplenia syndrome.

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

    PubMed Central

    Lowe, C. R.

    1972-01-01

    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

  8. Attitudes Towards Individuals with Spinal Cord Injuries

    ERIC Educational Resources Information Center

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

    2010-01-01

    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…

  9. Umbilical cord and visceral hemangiomas diagnosed in the neonatal period

    PubMed Central

    Iglesias-Deus, Alicia; Pérez-Muñuzuri, Alejandro; Urisarri, Adela; Bautista-Casasnovas, Adolfo; Couce, Maria-Luz

    2016-01-01

    Abstract Background: Umbilical cord hemangioma is very rare and may not be detected prenatally. However, it should be considered in differential diagnosis with other umbilical masses because it can cause significant morbidity. Methods: We report the case of a newborn referred with suspected omphalitis and umbilical hernia. Results: Physical examination showed an irreducible umbilical tumor, the size of olive, with dubious secretion. The initial suspected diagnosis was urachal or omphalomesenteric duct remnants. Abdominal ultrasound and magnetic resonance imaging showed an umbilical and a mesenteric mass. Tumor markers were negative. A definitive diagnosis of umbilical cord and intestinal hemangioma was established after surgical excision and histologic examination of the umbilical mass. Propranolol was prescribed due to the extent of the intestinal lesion. Conclusion: This report highlights the diagnostic challenges of hemangiomas in unusual locations. Apart from the rarity of these tumors, few tests are available to guide diagnosis, and surgery and histologic examination are generally required for a definitive diagnosis. Finally, it is essential to rule out associated malformations and hemangiomas in other locations. PMID:27759656

  10. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

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

    2000-01-01

    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

  11. [Laboratory evaluation of retraction cords properties].

    PubMed

    Muradov, M A; Ryakhovsky, A N; Poyurovskaya, I Ya; Ilyasov, R N

    2016-01-01

    The aim of the study was the investigation of the effect of two factors on the diameter changings of different types of retraction cords. Using an optical microscope MBS-10 (x10) the diameter of the different retraction cords was measured. The measurement also was performed after tension and after wetting cords with distilled water. The cords diameter decreased after their tension and increased after wetting. The degree of diameter changes depends on the kind of cords weaving. Braided cords "00" and "1" sizes diameter after it tension decreased at 31% and 37%, knitted cords under tension changed the diameter at 53% and 48%, correspondingly. Cords features after wetting also varied. Wetting of the braided cords with distilled water did not lead to significant diameter changes while wetting of knitted cords increases their diameter at 13% (00) and 15% (1).

  12. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

  13. Cerebral Arteriovenous Malformation Associated with Moyamoya Disease

    PubMed Central

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

    2014-01-01

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

  14. Cerebral arteriovenous malformation associated with moyamoya disease.

    PubMed

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

    2014-10-01

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

  15. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-06

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory.

  16. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  17. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

  18. Genetic and Developmental Basis of Cardiovascular Malformations

    PubMed Central

    Azhar, Mohamad; Ware, Stephanie M.

    2015-01-01

    Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1–5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multi-step process of morphogenesis that is under genetic regulation. Multiple developmental pathways act independently or in combination to effect proper cardiac lineage specification, differentiation, and structure. Because of this complexity, there are numerous potential mechanisms by which genetic variation can impact both fetal cardiac development and latent cardiac disease. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified relatively infrequently. Mouse models are important tools to investigate the molecular mechanisms underpinning cardiac development as well as the complex genetics that characterize human CVMs. In this review we provide an overview of the key genetic concepts characterizing human CVMs, review their developmental basis, and provide examples to illustrate the critical developmental and genetic concepts underlying the pathogenesis of CVMs. PMID:26876120

  19. Carotid ultrasound for pulmonary arteriovenous malformation screening

    PubMed Central

    Schneider, Günther; Maßmann, Alexander; Gräber, Stefan; Geisthoff, Urban W.

    2015-01-01

    Objective In patients with hereditary hemorrhagic telangiectasia (HHT), pulmonary arteriovenous malformations (PAVMs) can cause serious neurological complications. Our aim was to evaluate the potential of contrast-enhanced Doppler ultrasound (CE-US) of the common carotid artery as a screening test for detection of PAVMs. Methods A total of 124 consecutive patients with HHT or a positive family history underwent screening for PAVMs with CE-US and thoracic contrast-enhanced magnetic resonance angiography (CE-MRA). CE-US was performed after receiving (D)-galactose microparticulate, and CE-MRA with gadobenate dimeglumine. Twenty-five patients with confirmed PAVMs were referred to conventional pulmonary catheter angiography (PA). Findings on CE-US and CE-MRA were evaluated using contingency tables and McNemar’s test. Results Using CE-MRA as the reference test, CE-US had a sensitivity of 100%, a specificity of 87%, and a negative predictive value of 100%. In 25 patients who underwent PA, PAVMs that had been diagnosed on CE-US and CE-MRA were confirmed. Of the PAVMs detected by CE-MRA, 24% were not identified on PA. Conclusion CE-US is a simple, minimally invasive screening method that can easily be performed in different settings. CE-US can predict PAVMs with high probability of success. CE-US may be a simple alternative to transthoracic echocardiography in the assessment of PAVMs in certain HHT-patients. PMID:28352707

  20. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

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

  1. Vascular permeability in cerebral cavernous malformations.

    PubMed

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy.

  2. Vascular permeability in cerebral cavernous malformations

    PubMed Central

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik BW; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy. PMID:25966944

  3. Torsional Split Hopkinson Bar Optimization

    DTIC Science & Technology

    2012-04-10

    is the torsional wave speed . Also, one can relate the torque with the yield stress of the material, as seen in equation 2; where r is the radius of...be equal to the mechanical impedance of the bars. In other words, the product of density, speed of wave and polar moment of inertia must remain...pillow blocks used to mount the incident and transmitter bars are cast iron based- mounted Babbitt-lined bearing split, for 1 in. shaft diameter

  4. Low frequency split cycle cryocooler

    NASA Technical Reports Server (NTRS)

    Bian, S. X.; Zhang, Y. D.; Wan, W. W.; Wang, L.; Hu, Q. C.

    1985-01-01

    A split cycle Stirling cryocooler with two different drive motors and operating at a low drive frequency can have high thermodynamic efficiency. The temperature of the cold end of the cryocooler varies with drive frequency, voltage of the input electrical power and initial charge pressure values. The cryocooler operating at 8 Hz can provide 7 watts of refrigeration at 77 K for 230 watts of electrical input power.

  5. 10 CFR 26.135 - Split specimens.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 10 Energy 1 2014-01-01 2014-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee...

  6. 10 CFR 26.135 - Split specimens.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 10 Energy 1 2011-01-01 2011-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee...

  7. 10 CFR 26.135 - Split specimens.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 10 Energy 1 2013-01-01 2013-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee...

  8. 10 CFR 26.135 - Split specimens.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 10 Energy 1 2012-01-01 2012-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee...

  9. 10 CFR 26.135 - Split specimens.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee...

  10. Development of a new flux splitting scheme

    NASA Technical Reports Server (NTRS)

    Liou, Meng-Sing; Steffen, Christopher J., Jr.

    1991-01-01

    The successful use of a novel splitting scheme, the advection upstream splitting method, for model aerodynamic problems where Van Leer and Roe schemes had failed previously is discussed. The present scheme is based on splitting in which the convective and pressure terms are separated and treated differently depending on the underlying physical conditions. The present method is found to be both simple and accurate.

  11. Development of a new flux splitting scheme

    NASA Technical Reports Server (NTRS)

    Liou, Meng-Sing; Steffen, Christopher J., Jr.

    1991-01-01

    The use of a new splitting scheme, the advection upstream splitting method, for model aerodynamic problems where Van Leer and Roe schemes had failed previously is discussed. The present scheme is based on splitting in which the convective and pressure terms are separated and treated differently depending on the underlying physical conditions. The present method is found to be both simple and accurate.

  12. Split torque transmission load sharing

    NASA Technical Reports Server (NTRS)

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

    1992-01-01

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

  13. Testing split supersymmetry with inflation

    NASA Astrophysics Data System (ADS)

    Craig, Nathaniel; Green, Daniel

    2014-07-01

    Split supersymmetry (SUSY) — in which SUSY is relevant to our universe but largely inaccessible at current accelerators — has become increasingly plausible given the absence of new physics at the LHC, the success of gauge coupling unification, and the observed Higgs mass. Indirect probes of split SUSY such as electric dipole moments (EDMs) and flavor violation offer hope for further evidence but are ultimately limited in their reach. Inflation offers an alternate window into SUSY through the direct production of superpartners during inflation. These particles are capable of leaving imprints in future cosmological probes of primordial non-gaussianity. Given the recent observations of BICEP2, the scale of inflation is likely high enough to probe the full range of split SUSY scenarios and therefore offers a unique advantage over low energy probes. The key observable for future experiments is equilateral non-gaussianity, which will be probed by both cosmic microwave background (CMB) and large scale structure (LSS) surveys. In the event of a detection, we forecast our ability to find evidence for superpartners through the scaling behavior in the squeezed limit of the bispectrum.

  14. [Experimental vocal cord abduction impairment with an artificial vocal cord].

    PubMed

    Isozaki, Eiji; Tobisawa, Shinsuke; Nishizawa, Misato; Nakayama, Hideto; Fukui, Kotaro; Takanishi, Asuo

    2009-07-01

    Non-invasive positive pressure ventilation (NPPV) has recently been applied to the patients with multiple system atrophy (MSA) with various respiratory complications including vocal cord abduction impairment and respiratory disturbance by the central origin. Any consensus guidelines on setting up the inspiratory positive airway pressure (IPAP) and expiratory one (EPAP), however, have not been raised yet. To investigate this problem, we made the upper airway tract model with moderately and severely narrow glottis using a training/test lung and the artificial vocal cord which was developed for a humanoid talking robot in Waseda University. The artificial vocal cord was molded out of a high performance thermoplastic rubber in imitation of the human larynx. Previous studies using with a high-speed camera and a sound analyzer showed that the artificial vocal cord resembled human larynx closely both morphologically and functionally. The opening and closing movements of the artificial vocal cord were observed fiberscopically under various conditions of IPAP (4-20 cmH2O) and EPAP (4-10 cmH2O). The maximal glottic width during inspiration and expiration were measured by a pair of calipers on the video-monitored display. Both of the moderately and the severely narrow artificial vocal cords without non-paralytic factors showed typical paradoxical movement showing adduction in inspiration and abduction in expiration, which is characteristic to vocal cord abductor impairment seen in MSA. In the model with moderately severe narrow glottis, this paradoxical movement was released under any positive pressures of continuous (CPAP) and bilevel (Bilevel PAP) modes. In the model with severely narrow glottis, however, there existed a threshold in setting up the optimal EPAP to release the paradoxical movement. In conclusion, EPAP-leading procedure seems to be preferable to IPAP-leading procedure to dilate the narrow glottis as a pneumatic splint in the managements of the patients with

  15. Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana

    PubMed Central

    Zash, Rebecca; Shapiro, Roger L.; Batlang, Oganne; Botebele, Kerapetse; Bennett, Kara; Chilisa, Florence; von Widenfelt, Erik; Makhema, Joseph; Lockman, Shahin; Holmes, Lewis B.; Powis, Kathleen M

    2017-01-01

    Introduction A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART). While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted. Methods We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study). Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations. Results Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99%) newborn exams. One thousand eighty-eight (38%) women were taking ART at conception; 1,147 (40%) started ART during pregnancy; 442 (15%) received zidovudine monotherapy; and 223 (7%) received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76%) met congenital malformations criteria, 10 (30%) were classified as major malformations, 4 (40%) of which were identified after the birth exam. Discussion Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy. Significance Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization

  16. A extremely rare case of cervical intramedullary granuloma due to Brucella accompanied by Chiari Type-1 malformation.

    PubMed

    Tufan, Kadir; Aydemir, Fatih; Sarica, Feyzi Birol; Kursun, Ebru; Kardes, Özgür; Cekinmez, Melih; Caner, Hakan

    2014-01-01

    Chiari Type-1 malformation is displacement of the cerebellar tonsils through the foramen magnum into the cervical spine and usually does not exceed the level of C2. It is 50-70% associated with syringomyelia. Nervous system involvement due to brucellosis is called neurobrucellosis, and neurological involvement rate has been reported an average of 3-5%, ranging between 3% and 25% at different series. Intramedullary abscess or granuloma due to Brucella is extremely rare. Hence far, six cases have been reported in the literature and only two of these cases were reported as intramedullary granuloma. This case is presented in order to remind the importance of the cervical cord granuloma which was presented once before in the literature and to emphasize the importance of evaluation of patient history, clinical and radiological findings together in the evaluation of a patient.

  17. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    PubMed

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

  18. Depression and Spinal Cord Injury

    MedlinePlus

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

  19. Quantitative evaluation of cervical cord compression by computed tomographic myelography in Thoroughbred foals

    PubMed Central

    YAMADA, Kazutaka; SATO, Fumio; HADA, Tetsuro; HORIUCHI, Noriyuki; IKEDA, Hiroki; NISHIHARA, Kahori; SASAKI, Naoki; KOBAYASHI, Yoshiyasu; NAMBO, Yasuo

    2016-01-01

    ABSTRACT Five Thoroughbred foals (age, 8–33 weeks; median age, 31 weeks; weight, 122–270 kg; median weight, 249 kg) exhibiting ataxia with suspected cervical myelopathy (n=4) and limb malformation (n=1) were subjected to computed tomographic (CT) myelography. The areas of the subarachnoid space and cervical cord were measured on transverse CT images. The area of the cervical cord was divided by the area of subarachnoid space, and stenosis ratios were quantitatively evaluated and compared on the basis of histopathological examination. The sites with a ratio above 52.8% could have been primary lesion sites in the histopathological examination, although one site with a ratio of 54.1% was not a primary lesion site. Therefore, in this study, a ratio between 52.8–54.1% was suggested to be borderline for physical compression that damages the cervical cord. All the cervical vertebrae could not be scanned in three of the five cases. Therefore, CT myelography is not a suitable method for locating the site of compression, but it should be used for quantitative evaluation of cervical stenosis diagnosed by conventional myelography. In conclusion, the stenosis ratios determined using CT myelography could be applicable for detecting primary lesion sites in the cervical cord. PMID:27974873

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

    SciTech Connect

    Tariq, S.M.; Worsey, P.N.

    1995-12-31

    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.

  1. Repeat radiosurgery for cerebral arteriovenous malformations

    PubMed Central

    Stapleton, Christopher J.; Ding, Dale; Leed, Cheng-Chia; Loeffler, Jay S.

    2015-01-01

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

  2. Immune Response in Human Cerebral Cavernous Malformations

    PubMed Central

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

    2009-01-01

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

  3. Flexible split-ring electrode for insect flight biasing using multisite neural stimulation.

    PubMed

    Tsang, Wei Mong; Stone, Alice L; Aldworth, Zane N; Hildebrand, John G; Daniel, Tom L; Akinwande, Akintunde Ibitayo; Voldman, Joel

    2010-07-01

    We describe a flexible multisite microelectrode for insect flight biasing using neural stimulation. The electrode is made of two layers of polyimide (PI) with gold sandwiched in between in a split-ring geometry. The split-ring design in conjunction with the flexibility of the PI allows for a simple insertion process and provides good attachment between the electrode and ventral nerve cord of the insect. Stimulation sites are located at the ends of protruding tips that are circularly distributed inside the split-ring structure. These protruding tips penetrate into the connective tissue surrounding the nerve cord. We have been able to insert the electrode into pupae of the giant sphinx moth Manduca sexta as early as seven days before the adult moth emerges, and we are able to use the multisite electrode to deliver electrical stimuli that evoke multidirectional, graded abdominal motions in both pupae and adult moths. Finally, in loosely tethered flight, we have used stimulation through the flexible microelectrodes to alter the abdominal angle, thus causing the flying moth to deviate to the left or right of its intended path.

  4. 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

    2014-01-01

    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

  5. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

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

    2013-02-01

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

  6. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  7. Neurodevelopmental Malformations of the Cerebellar Vermis in Genetically Engineered Rats.

    PubMed

    Ramos, Raddy L; Van Dine, Sarah E; Gilbert, Mary E; Leheste, Joerg R; Torres, German

    2015-12-01

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformations are almost exclusively found along the primary fissure and are indicative of deficits of neuronal migration during cerebellar development. In the present report, we test the prediction that genetically engineered rats on Sprague-Dawley or Long-Evans backgrounds will also exhibit the same cerebellar malformations. Consistent with our hypothesis, we found that three different transgenic lines on two different backgrounds had cerebellar malformations. Heterotopia in transgenic rats had identical cytoarchitecture as that observed in wild-type rats including altered morphology of Bergmann glia. In light of the possibility that heterotopia could affect results from behavioral studies, these data suggest that histological analyses be performed in studies of cerebellar function or development when using genetically engineered rats on these backgrounds in order to have more careful interpretation of experimental findings.

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

    USGS Publications Warehouse

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

    2000-01-01

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

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

    PubMed

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

    2004-07-01

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

  10. Modification of radiation damage in rat spinal cord by mitotane

    SciTech Connect

    Glicksman, A.S.; Bliven, S.F.; Leith, J.T.

    1982-07-01

    Modification of the paralytic response in rats after 6-MV photon irradiation of the spinal cord with either single or split exposures (two equal fractions given in a 24-hour period) by mitotane was investigated. Mitotane was administered as a suspension in physiologic saline (300 mg/kg/day) for either 5 days prior to or 5 days after irradiation. For rats receiving split doses of 6-MV photons, either the last two doses of mitotane were given 2 hours prior to each radiation fraction or mitotane was begun 2 hours after the second fraction and continued for 5 days. The data to 6 months after irradiation indicate that, in rats given mitotane for 5 days prior to single-dose photon irradiation, the paralytic response (as defined by the dose needed to produce paralysis in 50% of the irradiated groups of rats) was enhanced by a dose-enhancement factor (DEF) of 1.40. The DEF in the group of rats given mitotane after single doses of 6-MV photons was 1.15. In the split-dose irradiation experiments, the DEF for the groups of rats given mitotane prior to each radiation fraction was 1.36; while the DEF for the group of rats receiving mitotane beginning after the second fraction was 1.18. These data indicate that mitotane can potentiate the effects of 6-MV photon irradiation to the central nervous system, with mitotane administered prior to irradiation being the most effective sequence.

  11. Management of patients with brain arteriovenous malformations.

    PubMed

    Söderman, Michael; Andersson, Tommy; Karlsson, Bengt; Wallace, M Christopher; Edner, Göran

    2003-06-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms-fixed or unstable-such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably <0.01% and the detection rate is about one per 100,000 person-years. Most AVMs are revealed in patients 20-40 years of age. Therefore, the risk of developing neurological symptoms from an AVM, usually because of haemorrhage, increases with patient age. In the young adult population, AVMs are significant risk factors for hemorrhagic stroke. This risk increases with AVM volume and is higher in centrally located AVMs. Almost all patients with AVM are subjected to treatment, either by surgery, radiosurgery or embolisation, with the functional aim of reducing the risk of haemorrhage or to alleviate neurological symptoms with an acceptable treatment risk. Few neurocentres have physicians highly skilled in all treatment modalities. Therefore, the prescribed treatment may not be defined from an objective assessment of what is optimal for each individual patient, but rather from local expertise. In this context, more and better data about the natural history and the outcome of different treatments, as well as predictive models, would be valuable to help to optimise the management. Management strategies obviously differ according to local preferences, but results presented in the literature suggest the following strategy: (I) cortically located AVMs with a nidus volume <10 ml could be operated, with or without presurgical embolisation, unless there is a single feeder that can easily be catheterised and embolised for

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

    PubMed

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

    2003-06-01

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

  13. Cyst of the medullary conus: malformative persistence of terminal ventricle or compressive dilatation?

    PubMed

    Celli, Paolo; D'Andrea, Giancarlo; Trillò, Giuseppe; Roperto, Raffaelino; Acqui, Michele; Ferrante, Luigi

    2002-03-01

    The ventriculus terminalis is a cavity situated at the level of the conus medullaris, enclosed by ependymal tissue and normally present as a virtual cavity or as a mere ependymal residue. In rare cases, and almost exclusively in pediatric age, the ventriculus terminalis may be visualized by radiological investigations, either by sonography or MRI, and represents a transient finding in children under 5 years of age. In pathological conditions, a cyst of the conus medullaris is probably the result of a persistent ventriculus terminalis and is usually described in children in association with a tethered cord; in a very limited number of cases, it has been described in adults whose clinical symptoms consist of neurological and/or sphincter disturbances not associated with other pathologies. The authors describe the case of a 42-year-old female with a cyst of the conus whose only symptom was imperious minction; she had been suffering from these urinary disorders for many years. The patient was not operated on because the clinical situation remained stable, without modifications of the MRI in follow-up over a 6-year period. The authors therefore suggest that in adult patients, a cyst of the conus medullaris is probably an expression of malformative persistence of the fifth ventricle and does not necessarily have a progressive evolution.

  14. Baller-Gerold syndrome associated with congenital portal venous malformation.

    PubMed Central

    Savarirayan, R; Tomlinson, P; Thompson, E

    1998-01-01

    We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes. Images PMID:9733037

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

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

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

  16. Genes and brain malformations associated with abnormal neuron positioning.

    PubMed

    Moffat, Jeffrey J; Ka, Minhan; Jung, Eui-Man; Kim, Woo-Yang

    2015-11-05

    Neuronal positioning is a fundamental process during brain development. Abnormalities in this process cause several types of brain malformations and are linked to neurodevelopmental disorders such as autism, intellectual disability, epilepsy, and schizophrenia. Little is known about the pathogenesis of developmental brain malformations associated with abnormal neuron positioning, which has hindered research into potential treatments. However, recent advances in neurogenetics provide clues to the pathogenesis of aberrant neuronal positioning by identifying causative genes. This may help us form a foundation upon which therapeutic tools can be developed. In this review, we first provide a brief overview of neural development and migration, as they relate to defects in neuronal positioning. We then discuss recent progress in identifying genes and brain malformations associated with aberrant neuronal positioning during human brain development.

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

    PubMed

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

    2010-11-01

    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.

  18. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  19. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

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

  20. Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation

    PubMed Central

    Abbas, Zaheer; Khani, Sepideh; Zare, Javad

    2017-01-01

    Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma. This report emphasizes the importance of careful examination and proper investigations of the plexiform neurofibroma prior to treatment strategies to avoid future complications. The rarity of plexiform neurofibroma in association with arteriovenous malformation at the same site was also highlighted in this report.

  1. Endovascular embolization of life threatening intracranial arterio-venous malformation.

    PubMed

    Khan, S U; Rahman, K M; Siddiqui, M R; Hoque, M A; Mondol, B A; Hussain, S; Mohammad, Q D

    2010-07-01

    Haemorrhagic stroke from cerebral arteriovenous malformations (AVMs) represents 2% of all hemorrhagic strokes. A clear understanding of the diagnostic and treatment algorithms of cerebral AVM management is very important, because AVMs are a cause of hemorrhage in young adults. Surgery, endovascular therapy, and radiosurgery can be used alone or in combination to treat an AVM. We reported a 40 years old man of cerebral arteriovenous malformation (AVM), complicated with intracerebral hemorrhage (ICH). Digital subtraction angiogram was done for diagnosis and endovascular embolization for treatment of the case. This is the first successful cerebral arteriovenous malformations (AVMs) embolization in any government hospital of Bangladesh. The aim of this case report is to inform about this new technologies and emerging treatment strategies in these areas.

  2. Brainstem cavernous malformations: Natural history versus surgical management.

    PubMed

    Walcott, Brian P; Choudhri, Omar; Lawton, Michael T

    2016-10-01

    While brainstem cavernous malformations were once considered inoperable, improvements in patient selection, surgical exposures, intraoperative MRI-guidance, MR tractography, and neurophysiologic monitoring have resulted in good outcomes in the majority of operated patients. In a consecutive series of 104 patients with brainstem cavernous malformations, only 14% of patients experienced cranial nerve or motor dysfunction that was worse at late follow-up, relative to their preoperative condition. Outcomes were predicted by several factors, including larger lesion size, lesions that crossed the midline, the presence of a developmental venous anomaly, older age, and greater time interval from lesion hemorrhage to surgery. The 14% of patients who experienced a persistent neurological deficit as a result of surgery, while substantial from any perspective, compares favorably with the risks of observation based on a recent meta-analysis. Curative resection is a safe and effective treatment for brainstem cavernous malformations that will prevent re-hemorrhage in symptomatic patients.

  3. Algebraic techniques for diagonalization of a split quaternion matrix in split quaternionic mechanics

    SciTech Connect

    Jiang, Tongsong; Jiang, Ziwu; Zhang, Zhaozhong

    2015-08-15

    In the study of the relation between complexified classical and non-Hermitian quantum mechanics, physicists found that there are links to quaternionic and split quaternionic mechanics, and this leads to the possibility of employing algebraic techniques of split quaternions to tackle some problems in complexified classical and quantum mechanics. This paper, by means of real representation of a split quaternion matrix, studies the problem of diagonalization of a split quaternion matrix and gives algebraic techniques for diagonalization of split quaternion matrices in split quaternionic mechanics.

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

    PubMed

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

    1978-01-01

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

  5. Antenatal diagnosis of congenital renal malformations using ultrasound.

    PubMed

    Sanghvi, K P; Merchant, R H; Gondhalekar, A; Lulla, C P; Mehta, A A; Mehta, K P

    1998-08-01

    Our objectives were to determine the accuracy of antenatal sonography for the detection of congenital renal malformations and to characterize the type of malformations, seen in a 3-year prospective study at a university-affiliated maternity hospital. Participants were 31,217 pregnant women, during the study period, and subjects were 65 fetuses in whom renal malformations were detected on antenatal ultrasound. Pelvic ultrasound scans were performed at least once between 20 and 37 weeks' gestation on all pregnant women attending the antenatal clinic of the hospital for the detection of renal malformations. Fetal urinary sampling, diversion procedures, or termination of pregnancy were carried out as required in those detected to have renal anomalies. Postnatal diagnosis was confirmed by sonography or autopsy. Diagnostic procedures and renal surgery were performed postnatally if indicated. Sixty-five fetuses (0.2 per cent) were diagnosed to have congenital renal malformation antenatally at a mean gestational age of 28.4 weeks. A dilated urinary system was seen in 39, cystic renal disease in 15, agenesis/hypoplasia in six, combined lesions in four, and a horseshoe kidney in one. Oligohydramnios was noted in 20 (31 per cent) pregnancies. Multiple congenital malformations associated with renal anomalies were detected in 12 pregnancies. Termination was carried out at 20 weeks in two pregnancies for lethal malformations; fetal urinary sampling was done in two fetuses with obstructed uropathy, and a vesicoamniotic shunt inserted in one. Postnatal ultrasound confirmed a dilated urinary system in 32, cystic renal dysplasia in 15, renal aplasia/hypoplasia in five, combined lesions in six, and a horseshoe and an ectopic kidney in one each. Five infants were found to be normal. There were seven stillbirths and seven neonatal deaths. Radionuclide scans showed obstruction in nine, decreased renal function in six, and absent renal functions in 10 infants. Micturating

  6. Influence of maternal distress during pregnancy on fetal malformations.

    PubMed

    Blomberg, S

    1980-10-01

    The aim of the study was to investigate whether emotional stress in a pregnant woman might have an adverse effect in the form of malformations on fetal development. The children of 1,263 women whose applications for legal abortion in 1960 had been refused were compared with the next children born in the same delivery wards and paired matched controls were thereby obtained. Results. 1) The incidence of malformations according to the criteria established by the Swedish Register of Malformations was 1.8% in the proband series as against 1.1% in the control series. 2) The incidence of malformation increased with higher age and lower social class in the proband series, whereas no such connection was found in the control series. 3) The incidence of malformations for children of abortion applicants 25 years of age and above from social class III was 3% in the proband series as against 0.6% in the control series (P = 0.017). 4) One malformation, cleft palate, occurred at a significantly (P less than 0.01) higher incidence than in the country as a whole, four cases against the expected value of 0.69. 5) Etiological analysis showed that three of the cases were chromosomal aberrations, all of them Down's syndrome, in two cases there was a genetic background and two cases were thalidomide-induced phocomelia. In three proband children there may have been a connection with the abuse of alcohol by the mother. 6) When the chromosomal, genetic and thalidomide cases are excluded, the preponderance of malformations in the proband children of mothers 25 years of age and above belonging to social class III still remains (2.2% vs. 0.3%, P = 0.017). Conclusion. The results may be seen as support for the hypothesis that emotional stress in a pregnant woman, operationally defined by the factor unwanted pregnancy, may interfere with fetal development and result in a higher incidence of malformations. The interference may occur directly via psycho-endocrinal or autonomous mechanisms or

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

    PubMed

    Sierre, Sergio; Teplisky, Darío; Lipsich, José

    2016-04-01

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

  8. [Type I Chiari malformation associated with cerebellar atrophy. Case report].

    PubMed

    Moscote-Salazar, Luis Rafael; Calderón-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Lee-Aguirre, Ángel; Alcalá-Cerra, Gabriel

    2017-01-01

    Chiari malformation is characterized by caudal displacement of the cerebellar tonsils that penetrate into the spinal canal through the foramen magnum, achieving reach the atlas or axis. trunk and any drop of the fourth ventricle is observed. Typically is seen in young adults. In some cases scoliosis and Syringomyelic cavities may occur. The authors present (as far as they know) the first case in the literature with long term follow-up, of a caucasian woman with an unusual form of cerebellar atrophy and Chiari Type I malformation, suffering from weakness in his upper and lower extremities with rapidly progression. The patient was successfully treated with suboccipital decompression and C1 laminectomy.

  9. Diffusion imaging and tractography of congenital brain malformations.

    PubMed

    Wahl, Michael; Barkovich, A James; Mukherjee, Pratik

    2010-01-01

    Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms.

  10. Nursery care of the newborn with malformation syndrome.

    PubMed

    Pluchinotta, Francesca Romana; Memo, Luigi

    2009-10-01

    Congenital malformations are not so rare, and represent a relevant challenge to health care providers. We delineate a methodology for the clinical approach to the malformed newborn, that takes into account the needs of the patient as single person and as part of a familiar and social context. We consider first the medical problem that the neonatologists face in the nursery and neonatal intensive care unit regarding clinical assistance, diagnosis, parent counselling and hospital discharge. Then we focus on the periodic follow-up, and the role of the primary care physician and the specialist in the assistance of this patients.

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

    PubMed Central

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

    2013-01-01

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

  12. High Performance Split-Stirling Cooler Program

    DTIC Science & Technology

    1982-09-01

    7 SPLIT- STIRLING CYCLE CRYOCOOLER . ...... . . . . . 13 8 TEMPERATURE-SHOCK COMPARISON PERFORMANCE DATA, S/N 002 . . 23 9 TEMPERATURE-SHOCK...PERFORMANCE SPLIT- STIRLING "COOLER PROGRAM FINAL TECHNICAL REPORT "September 1982 Prepared for NIGHT VISION AND ELECTRO-OPTICS LABORATORI ES "Contract DAAK70...REPORT & P.Vt2OO COVERED HIGH PERFORMANCE SPLIT- STIRLING COOLER PROGRAM Final Technical Sept. 1979. - Sept. 1982 S. PERPORMING ORO. REPORT KUMMER

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

    PubMed

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

    2011-11-01

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

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

    SciTech Connect

    Hudgins, L.; Massa, H.; Disteche, C.

    1994-09-01

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

  15. Directing Spinal Cord Plasticity: The Impact of Stretch Therapy on Functional Recovery after Spinal Cord Injury

    DTIC Science & Technology

    2014-10-01

    AWARD NUMBER: W81XWH-12-1-0587 TITLE: Directing Spinal Cord Plasticity: The Impact of Stretch ...Directing Spinal Cord Plasticity: The Impact of Stretch Therapy on Functional Recovery after Spinal Cord Injury. 5b. GRANT NUMBER W81XWH-12-1...ABSTRACT Essentially all spinal cord injured patients receive stretching therapies beginning within the first few weeks post-injury. Despite

  16. FAQs about Spinal Cord Injury (SCI)

    MedlinePlus

    ... spinal cord injury? Where is the nearest SCI Model System of Care? Emergency Medical Services Hospital (Acute) Care Rehabilitation More ... spinal cord injury? Where is the nearest SCI Model System of Care? Follow Us! Get Email Updates Questions & Comments Suggest ...

  17. 14 CFR 31.57 - Rip cords.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... STANDARDS: MANNED FREE BALLOONS Design Construction § 31.57 Rip cords. (a) If a rip cord is used for emergency deflation, it must be designed and installed to preclude entanglement. (b) The force required...

  18. Consensus conference on Chiari: a malformation or an anomaly? Scoliosis and others orthopaedic deformities related to Chiari 1 malformation.

    PubMed

    Colombo, Luca F; Motta, Francesco

    2011-12-01

    In this article, we analysed the orthopaedic malformation in patients affected by Chiari I malformations as well as conservative or surgical treatment. The most common deformity in these patients is scoliosis. Different studies suggest a causal relation between syringomyelia and spinal deformities that differ by the type of deformities: asymptomatic scoliosis is characterized by a higher incidence of a single curve and convexity to the left, while symptomatic scoliosis is characterized by a double thoracolumbar curve. The conservative treatment with brace in these patients is not effective and scoliosis is typically evolutive. The evidence of the international data is that in patients without myelomeningocele or congenital scoliosis, but with Arnold Chiari I malformation and syringomyelia, suboccipital craniectomy gives the best chance for syrinx reduction and scoliosis improvement, particulary in children younger than 10 years and below a Cobb angle of 30°. The orthopaedic treatment in late decompression or in progressive curve is spine arthrodesis.

  19. Aquaporins in the Spinal Cord

    PubMed Central

    Oklinski, Michal K.; Skowronski, Mariusz T.; Skowronska, Agnieszka; Rützler, Michael; Nørgaard, Kirsten; Nieland, John D.; Kwon, Tae-Hwan; Nielsen, Søren

    2016-01-01

    Aquaporins (AQPs) are water channel proteins robustly expressed in the central nervous system (CNS). A number of previous studies described the cellular expression sites and investigated their major roles and function in the brain and spinal cord. Among thirteen different mammalian AQPs, AQP1 and AQP4 have been mainly studied in the CNS and evidence has been presented that they play important roles in the pathogenesis of CNS injury, edema and multiple diseases such as multiple sclerosis, neuromyelitis optica spectrum disorders, amyotrophic lateral sclerosis, glioblastoma multiforme, Alzheimer’s disease and Parkinson’s disease. The objective of this review is to highlight the current knowledge about AQPs in the spinal cord and their proposed roles in pathophysiology and pathogenesis related to spinal cord lesions and injury. PMID:27941618

  20. Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis.

    PubMed

    Glenn, O A; Quiroz, E M; Berman, J I; Studholme, C; Xu, D

    2010-06-01

    DWI was performed in fetuses with callosal agenesis and unilateral cortical malformations. ADC values were retrospectively measured in the developing white matter underlying the cortical malformation and compared with the corresponding contralateral white matter. In all 3 patients, ADC values were lower under the areas of cortical malformation compared with the normal contralateral side. Our findings suggest that there are structural differences in the developing white matter underlying areas of cortical malformation.

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

    PubMed

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

    2000-12-01

    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.

  2. Timing of Surgery After Spinal Cord Injury.

    PubMed

    Piazza, Matthew; Schuster, James

    2017-01-01

    Although timing for surgical intervention after spinal cord injury remains controversial, there is accumulating evidence suggesting that early surgery may improve neurologic outcomes, particularly with incomplete spinal cord injury, and may reduce non-neurologic complications and health care resource utilization. Moreover, even in patients with complete spinal cord injury, minor improvement in neurologic function can lead to significant changes in quality of life. This article reviews the experimental and clinical data examining surgical timing after spinal cord injury.

  3. ISODATA: Thresholds for splitting clusters

    NASA Technical Reports Server (NTRS)

    Kan, E. P. F. (Principal Investigator)

    1972-01-01

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

  4. Emittance compensation in split photoinjectors

    NASA Astrophysics Data System (ADS)

    Floettmann, Klaus

    2017-01-01

    The compensation of correlated emittance contributions is of primary importance to optimize the performance of high brightness photoinjectors. While only extended numerical simulations can capture the complex beam dynamics of space-charge-dominated beams in sufficient detail to optimize a specific injector layout, simplified models are required to gain a deeper understanding of the involved dynamics, to guide the optimization procedure, and to interpret experimental results. In this paper, a slice envelope model for the emittance compensation process in a split photoinjector is presented. The emittance term is included in the analytical solution of the beam envelope in a drift, which is essential to take the emittance contribution due to a beam size mismatch into account. The appearance of two emittance minima in the drift is explained, and the matching into the booster cavity is discussed. A comparison with simulation results points out effects which are not treated in the envelope model, such as overfocusing and field nonlinearities.

  5. Dephasing in coherently split quasicondensates

    SciTech Connect

    Stimming, H.-P.; Mauser, N. J.; Mazets, I. E.

    2011-02-15

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

  6. Salt splitting with ceramic membranes

    SciTech Connect

    Kurath, D.

    1996-10-01

    The purpose of this task is to develop ceramic membrane technologies for salt splitting of radioactively contaminated sodium salt solutions. This technology has the potential to reduce the low-level waste (LLW) disposal volume, the pH and sodium hydroxide content for subsequent processing steps, the sodium content of interstitial liquid in high-level waste (HLW) sludges, and provide sodium hydroxide free of aluminum for recycle within processing plants at the DOE complex. Potential deployment sites include Hanford, Savannah River, and Idaho National Engineering Laboratory (INEL). The technical approach consists of electrochemical separation of sodium ions from the salt solution using sodium (Na) Super Ion Conductors (NaSICON). As the name implies, sodium ions are transported rapidly through these ceramic crystals even at room temperatures.

  7. Split liver transplantation in adults

    PubMed Central

    Hashimoto, Koji; Fujiki, Masato; Quintini, Cristiano; Aucejo, Federico N; Uso, Teresa Diago; Kelly, Dympna M; Eghtesad, Bijan; Fung, John J; Miller, Charles M

    2016-01-01

    Split liver transplantation (SLT), while widely accepted in pediatrics, remains underutilized in adults. Advancements in surgical techniques and donor-recipient matching, however, have allowed expansion of SLT from utilization of the right trisegment graft to now include use of the hemiliver graft as well. Despite less favorable outcomes in the early experience, better outcomes have been reported by experienced centers and have further validated the feasibility of SLT. Importantly, more than two decades of experience have identified key requirements for successful SLT in adults. When these requirements are met, SLT can achieve outcomes equivalent to those achieved with other types of liver transplantation for adults. However, substantial challenges, such as surgical techniques, logistics, and ethics, persist as ongoing barriers to further expansion of this highly complex procedure. This review outlines the current state of SLT in adults, focusing on donor and recipient selection based on physiology, surgical techniques, surgical outcomes, and ethical issues. PMID:27672272

  8. Method for carbon dioxide splitting

    DOEpatents

    Miller, James E.; Diver, Jr., Richard B.; Siegel, Nathan P.

    2017-02-28

    A method for splitting carbon dioxide via a two-step metal oxide thermochemical cycle by heating a metal oxide compound selected from an iron oxide material of the general formula A.sub.xFe.sub.3-xO.sub.4, where 0.ltoreq.x.ltoreq.1 and A is a metal selected from Mg, Cu, Zn, Ni, Co, and Mn, or a ceria oxide compound of the general formula M.sub.aCe.sub.bO.sub.c, where 0

  9. Minimal Doubling and Point Splitting

    SciTech Connect

    Creutz, M.

    2010-06-14

    Minimally-doubled chiral fermions have the unusual property of a single local field creating two fermionic species. Spreading the field over hypercubes allows construction of combinations that isolate specific modes. Combining these fields into bilinears produces meson fields of specific quantum numbers. Minimally-doubled fermion actions present the possibility of fast simulations while maintaining one exact chiral symmetry. They do, however, introduce some peculiar aspects. An explicit breaking of hyper-cubic symmetry allows additional counter-terms to appear in the renormalization. While a single field creates two different species, spreading this field over nearby sites allows isolation of specific states and the construction of physical meson operators. Finally, lattice artifacts break isospin and give two of the three pseudoscalar mesons an additional contribution to their mass. Depending on the sign of this mass splitting, one can either have a traditional Goldstone pseudoscalar meson or a parity breaking Aoki-like phase.

  10. Salt splitting using ceramic membranes

    SciTech Connect

    Kurath, D.E.

    1997-10-01

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

  11. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    PubMed

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

  12. [Surgical anatomy of spinal cord tumors].

    PubMed

    Peltier, J; Chenin, L; Hannequin, P; Page, C; Havet, É; Foulon, P; Le Gars, D

    2015-08-03

    In this article, we respectively describe the morphology of the spinal cord, spinal meningeal layers, main fiber tracts, and both arterial and venous distribution in order to explain signs of spinal cord compression. We will then describe a surgical technique for spinal cord tumor removal.

  13. Spinal Cord Repair with Engineered Nervous Tissue

    DTIC Science & Technology

    2014-04-01

    in order to minimize scarring and injected dissociated adult DRGs rostral to a dorsal column transection of the spinal cord. From the sensory... columns were dissected and post-fixed overnight in 4% paraformaldehyde, and then spinal cords were dissected from spinal columns and cryoprotected...AD______________ Award Number: W81XWH-10-1-0941 TITLE: Spinal Cord Repair with Engineered Nervous Tissue

  14. Brain and Spinal Cord Tumors in Adults

    MedlinePlus

    ... Search Search En Español Category Cancer A-Z Brain and Spinal Cord Tumors in Adults If you have a brain or spinal cord tumor or are close to ... cope. Here you can find out all about brain and spinal cord tumors in adults, including risk ...

  15. 14 CFR 31.57 - Rip cords.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 1 2012-01-01 2012-01-01 false Rip cords. 31.57 Section 31.57 Aeronautics 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...

  16. 14 CFR 31.57 - Rip cords.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 1 2014-01-01 2014-01-01 false Rip cords. 31.57 Section 31.57 Aeronautics 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...

  17. 14 CFR 31.57 - Rip cords.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 1 2011-01-01 2011-01-01 false Rip cords. 31.57 Section 31.57 Aeronautics 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...

  18. 14 CFR 31.57 - Rip cords.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 1 2013-01-01 2013-01-01 false Rip cords. 31.57 Section 31.57 Aeronautics 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...

  19. Evaluation of spinal cord injury animal models

    PubMed Central

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

    2014-01-01

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

  20. Psychological Aspects of Spinal Cord Injury

    ERIC Educational Resources Information Center

    Cook, Daniel W.

    1976-01-01

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

  1. [Unclassified sex cord testis tumor].

    PubMed

    Grenha, Vânia; Serra, Paula; Coelho, Hugo; Retroz, Edson; Temido, Paulo; Mota, Alfredo

    2014-01-01

    Unclassified sex cord testis tumor is an extremely rare tumor, especially in the adult. It is characterized histologically for a nonspecific combination of testis stromal and epithelial elements, with varying degree of differentiation. Treatment usually consists of radical orchiectomy followed by clinical and imaging surveillance. The available literature about this pathology relies almost exclusively on clinical cases. It's our aim to describe the case of a 37 years old man with an unclassified sex cord testis tumor, the first case described in Portugal, and to review the literature about this issue.

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  4. Riluzole improves outcome following ischemia-reperfusion injury to the spinal cord by preventing delayed paraplegia.

    PubMed

    Wu, Y; Satkunendrarajah, K; Fehlings, M G

    2014-04-18

    The spinal cord is vulnerable to ischemic injury due to trauma, vascular malformations and correction of thoracic aortic lesions. Riluzole, a sodium channel blocker and anti-glutamate drug has been shown to be neuroprotective in a model of ischemic spinal cord injury, although the effects in clinically relevant ischemia/reperfusion models are unknown. Here, we examine the effect of riluzole following ischemia-reperfusion injury to the spinal cord. Female rats underwent high thoracic aortic balloon occlusion to produce an ischemia/reperfusion injury. Tolerance to ischemia was evaluated by varying the duration of occlusion. Riluzole (8mg/kg) was injected intraperitoneally 4h after injury. Locomotor function (Basso, Beattie and Bresnahan (BBB) scale) was assessed at 4h, 1day, and 5days post-ischemia. Spinal cords were extracted and evaluated for neuronal loss using immunohistology (choline acetyltransferase (ChAT) and neuronal nuclei (NeuN)), inflammation (CD11b), astrogliosis (glial fibrillary acidic protein - GFAP) and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL). Ischemic injury lasting between 5.5 and 6.75min resulted in delayed paraplegia, whereas longer ischemia induced immediate paraplegia. When riluzole was administered to rats that underwent 6min of occlusion, delayed paraplegia was prevented. The BBB score of riluzole-treated rats was 11.14±4.85 compared with 1.86±1.07 in control animals. Riluzole also reduced neuronal loss, infiltration of microglia/macrophages and astrogliosis in the ventral horn and intermediate zone of the gray matter. In addition, riluzole reduced apoptosis of neurons in the dorsal horn of the gray matter. Riluzole has a neuroprotective effect in a rat model of spinal cord injury/reperfusion when administered up to 4h post-injury, a clinically relevant therapeutic time window.

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  6. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    PubMed

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

  7. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

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

    2013-01-01

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

  8. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

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

    2007-11-15

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

  9. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.

  10. Cochlear implantation in inner ear malformations--a review article.

    PubMed

    Sennaroglu, Levent

    2010-03-01

    Inner ear malformations constitute about 20% of congenital sensorineural hearing loss. In this review article an updated classification of cochlear malformations is provided. Incomplete partition and cochlear hypoplasia cases are each divided further into three groups. There are two main difficulties in the surgery of inner ear malformations; gusher and facial nerve abnormalities. Radiological features of malformations necessary to identify these problems preoperatively are discussed. Facial nerve abnormalities that may occur are described. Two different types of cerebrospinal fluid leakage are defined and necessary measures to prevent leakage are described. Standard and modified surgical approaches to overcome the described problems are described with literature findings. Finally meningitis which may occur with and without cochlear implantation in this special group of patients is emphasized. This is common in incomplete partition type I patients and is usually due to a fistula in one of the windows (usually oval window) which occurs as a result of cerebrospinal fluid pressure. This is a medical emergency leading to potential meningitis and measures that should be taken to stop the leak as soon as possible are described.

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

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

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

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

    PubMed

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

    2015-12-01

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

  13. Cord blood chimerism and relapse after haplo-cord transplantation.

    PubMed

    van Besien, Koen; Koshy, Nebu; Gergis, Usama; Mayer, Sebastian; Cushing, Melissa; Rennert, Hannah; Reich-Slotky, Ronit; Mark, Tomer; Pearse, Roger; Rossi, Adriana; Phillips, Adrienne; Vasovic, Liljana; Ferrante, Rosanna; Hsu, Yen-Michael; Shore, Tsiporah

    2017-02-01

    Haplo-cord stem cell transplantation combines the infusion of CD34 selected hematopoietic progenitors from a haplo-identical donor with an umbilical cord blood (UCB) graft from an unrelated donor and allows faster count recovery, with low rates of disease recurrence and chronic graft-versus-host disease (GVHD). But the contribution of the umbilical cord blood graft to long-term transplant outcome remains unclear. We analyzed 39 recipients of haplo-cord transplants with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), engrafted and in remission at 2 months. Median age was 66 (18-72) and all had intermediate, high, or very-high risk disease. Less than 20% UCB chimerism in the CD33 lineage was associated with an increased rate of disease recurrence (54% versus 11% p < 0.0001) and decrease in one year progression-free (20% versus 55%, p = 0.004) and overall survival (30% versus 62%, p = 0.02). Less than 100% UCB chimerism in the CD3 lineage was associated with increase rate of disease recurrence (46% versus 12%, p = 0.007). Persistent haplo-chimerism in the CD3 lineage was associated with an increased rate of disease recurrence (40% versus 15%, p = 0.009) Chimerism did not predict for treatment related mortality. The cumulative incidence of acute GVHD by day 100 was 43%. The cumulative incidence of moderate/severe chronic GVHD was only 5%. Engraftment of the umbilical cord blood grafts provides powerful graft-versus-leukemia (GVL) effects which protect against disease recurrence and is associated with low risk of chronic GVHD. Engraftment of CD34 selected haplo-identical cells can lead to rapid development of circulating T-cells, but when these cells dominate, GVL-effects are limited and rates of disease recurrence are high.

  14. Cheating More when the Spoils Are Split

    ERIC Educational Resources Information Center

    Wiltermuth, Scott S.

    2011-01-01

    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…

  15. Splitting and Projection at Work in Schools

    ERIC Educational Resources Information Center

    Dunning, Gerald; James, Chris; Jones, Nicola

    2005-01-01

    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…

  16. Splitting in Schizophrenia and Borderline Personality Disorder

    PubMed Central

    Pec, Ondrej; Bob, Petr; Raboch, Jiri

    2014-01-01

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

  17. Precision aligned split V-block

    DOEpatents

    George, Irwin S.

    1984-01-01

    A precision aligned split V-block for holding a workpiece during a milling operation having an expandable frame for allowing various sized workpieces to be accommodated, is easily secured directly to the mill table and having key lugs in one base of the split V-block that assures constant alignment.

  18. Transferring Goods or Splitting a Resource Pool

    ERIC Educational Resources Information Center

    Dijkstra, Jacob; Van Assen, Marcel A. L. M.

    2008-01-01

    We investigated the consequences for exchange outcomes of the violation of an assumption underlying most social psychological research on exchange. This assumption is that the negotiated direct exchange of commodities between two actors (pure exchange) can be validly represented as two actors splitting a fixed pool of resources (split pool…

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

    PubMed Central

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

    2016-01-01

    Background: Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. Methods: We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process. Results: The average patient age was 27.6 ± 9.9 years. The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years, respectively; these ages differed significantly (P < 0.01). Among patients with genital tract malformation, the percentages of vaginal malformation, uterine malformation, vulva malformation, cervical malformation, and other malformations were 43.9%, 43.5%, 7.4%, 2.3%, and 2.8%, respectively. Among patients with uterine malformation, 34.5% underwent surgery for the genital tract malformation, whereas in patients with vaginal malformation, the proportion is 70.6%; the difference between the two groups was statistically significant (P < 0.01). The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%, which was statistically significantly higher than that (5.3%) in patients with uterine malformations (P < 0.01). Conclusions: Compared to patients with uterine malformations, patients with vaginal malformations displayed more severe clinical symptoms, a younger surgical age, and a greater need for attention, early diagnosis, and treatment. Patients with genital tract malformations, particularly vaginal malformations, tend to have more complications of the urinary system and other malformations than patients with uterine malformations. PMID:27748336

  20. Syndactyly lethal: new mutation with multiple malformations occurring in Sprague Dawley rats.

    PubMed

    Fujii, Sakiko; Yabe, Kaoru; Kimura, Yuki; Ito, Yukie; Rokukawa, Masumi; Furukawa, Masatoshi; Ito, Kouta; Matsuura, Masao; Kiguchi, Masao

    2009-12-01

    We previously found newborns exhibiting syndactyly of both fore- and hindlimbs in a litter from a pair of Sprague Dawley rats. Continuous breeding of the parental animals yielded pups with the same anomaly in following litters, suggesting that the syndactyly was genetic in origin. In the present study, as all the syndactylous pups died on postnatal day 0, we conducted genetic analyses using 30 phenotypically normal female progeny and the sire. The females were subjected to caesarean section on day 20 of gestation and the fetuses were examined for the phenotypes. The results of the mating experiments suggest that the mutant phenotype is caused by a single autosomal recessive gene at a homozygous condition. As homozygous mutants are lethal at the neonatal stage, the mutant gene was named syndactyly lethal, gene symbol syl. The mutant rats have multiple abnormalities, such as syndactyly, micrognathia, fused/absent/small lung lobes, absent kidney and ureter, small spleen, small uterus, fused phalanges, sternoschisis, absent/detached rib, and splitting/fused/absent/small thoracic vertebra, some of which must be the cause of death on postnatal day 0. This mutant is considered to be useful for investigating the mechanisms and/or pathogenesis of syndactyly, as well as the accompanying malformations.

  1. Abernethy malformation: one of the etiologies of hepatopulmonary syndrome.

    PubMed

    Alvarez, Alfonso E; Ribeiro, Antônio F; Hessel, Gabriel; Baracat, Jamal; Ribeiro, José D

    2002-11-01

    Hepatopulmonary syndrome (HPS) is the clinical relationship between hepatic disease and the existence of pulmonary vascular dilatations, which can result in a range of arterial oxygenation abnormalities. It is probably caused by an alteration in the synthesis or metabolism of vasoactive pulmonary substances at a hepatic level, leading to vasodilatation of pulmonary vessels and diffusion perfusion defects. The Abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end-to-side or side-to-side shunt. Here, we report on a 5-year-and-11-month-old-boy who had started cyanosis at age 4 years and 11 months, and did not have any other pulmonary or cardiac signs or symptoms. In the investigation, arterial blood gases revealed a PaO(2) of 41.4 mm Hg. The chest x-ray film and echo Doppler cardiography were normal. Nuclear scanning with Technetium 99m-labeled macroaggregated albumin showed the presence of arteriovenous shunt, at 47%. Abdominal echography revealed Abernethy malformation with an absence of portal vein. We concluded that the patient had HPS caused by Abernethy malformation. The possible mechanism is that in this malformation, there is a deviation in the blood that comes from the spleen to the vena cava without passing through the liver, so there is no metabolism of some substances which can be responsible for the imbalance between the vasodilatation and the vasoconstriction of the pulmonary circulation. Abernethy malformation must be included as one of the etiologies of hepatopulmonary syndrome. This is the first case described in the literature with this form of presentation.

  2. Spinal cord astrocytoma mimicking multifocal myelitis

    PubMed Central

    Neutel, Dulce; Teodoro, Tiago; Coelho, Miguel; Pimentel, José; Albuquerque, Luísa

    2014-01-01

    Introduction Differential diagnosis of acute/subacute intrinsic spinal cord lesions can be challenging. In addition, intramedullary neoplasms typically show gadolinium enhancement, mass effect, and cord expansion. Case report We report a patient with spinal cord and brain stem lesions resembling multifocal myelitis. Magnetic resonance imaging showed no spinal cord enlargement or gadolinium enhancing. Treatment of myelitis was undertaken without stopping the progression of the disease. Biopsy was made and led to a histological diagnosis of astrocytoma. Discussion Astrocytoma must remain as a possible diagnosis of spinal cord lesions, even without typical characteristics of neoplasms. Furthermore, biopsy should always be considered when diagnosis is uncertain. PMID:24621037

  3. Management of Chronic Spinal Cord Dysfunction

    PubMed Central

    Abrams, Gary M.; Ganguly, Karunesh

    2015-01-01

    Purpose of Review: Both acute and chronic spinal cord disorders present multisystem management problems to the clinician. This article highlights key issues associated with chronic spinal cord dysfunction. Recent Findings: Advances in symptomatic management for chronic spinal cord dysfunction include use of botulinum toxin to manage detrusor hyperreflexia, pregabalin for management of neuropathic pain, and intensive locomotor training for improved walking ability in incomplete spinal cord injuries. Summary: The care of spinal cord dysfunction has advanced significantly over the past 2 decades. Management and treatment of neurologic and non-neurologic complications of chronic myelopathies ensure that each patient will be able to maximize their functional independence and quality of life. PMID:25651225

  4. Banking on cord blood stem cells.

    PubMed

    Sullivan, Michael J

    2008-07-01

    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, in the absence of any published transplant evidence to support autologous and non-directed family banking, commercial cord banks currently offer a superfluous service.

  5. Face split interpretations in sheet metal design

    NASA Astrophysics Data System (ADS)

    Vitalii, Vorkov; Dewil, Reginald; Mannaerts, Jef; Vandepitte, Dirk; Duflou, Joost R.

    2016-10-01

    Most of the modern CAD systems have capabilities to work with sheet metal parts. However, the functionality of these modules is limited to modelling, unfolding and delivering project documentation. In some cases the proposed design cannot be manufactured without splitting one or more faces of the part. In the current work, the graph representation of sheet metal parts and corresponding flat patterns are discussed. A splitting procedure is introduced which keeps all existing connections between faces intact. In addition, three interpretations for splitting are presented and recommendations for possible usage are given. The splitting procedure is found to be a convenient option to create feasible flat patterns. In addition, the different splitting interpretations present more flexibility to the designer.

  6. Pain following spinal cord injury.

    PubMed

    Ullrich, Philip M

    2007-05-01

    Pain is one of the most common, severe, and treatment-resistant complications that follows SCI. Recent years have seen a surge of research on methods for assessing and treating spinal cord injury pain. In this article, pain after SCI is reviewed in terms of nature, scope, assessment techniques, and treatment strategies.

  7. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 1: Brainstem arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Chen, Ching-Jen; Sheehan, Jason P

    2016-02-01

    The management of brainstem arteriovenous malformations (AVM) are one of the greatest challenges encountered by neurosurgeons. Brainstem AVM have a higher risk of hemorrhage compared to AVM in other locations, and rupture of these lesions commonly results in devastating neurological morbidity and mortality. The potential morbidity associated with currently available treatment modalities further compounds the complexity of decision making for affected patients. Stereotactic radiosurgery (SRS) has an important role in the management of brainstem AVM. SRS offers acceptable obliteration rates with lower risks of hemorrhage occurring during the latency period. Complex nidal architecture requires a multi-disciplinary treatment approach. Nidi partly involving subpial/epipial regions of the dorsal midbrain or cerebellopontine angle should be considered for a combination of endovascular embolization, micro-surgical resection and SRS. Considering the fact that incompletely obliterated lesions (even when reduced in size) could still cause lethal hemorrhages, additional treatment, including repeat SRS and surgical resection should be considered when complete obliteration is not achieved by first SRS. Patients with brainstem AVM require continued clinical and radiological observation and follow-up after SRS, well after angiographic obliteration has been confirmed.

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

    SciTech Connect

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

    2013-10-15

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

  9. [Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria].

    PubMed

    Abbo, O; Bouali, O; Galinier, P; Moscovici, J

    2012-02-01

    Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. Due to mosaic pattern of distribution, the phenotypes are variable and diverse. Vascular malformations are part of the major criteria used to define and diagnose this syndrome. It can involve the gastrointestinal tract, spleen, or the urinary tract but bladder malformations are rare. We report here a case of bladder vascular malformation in a 12-year-old boy known to have Proteus syndrome and review the literature on bladder malformations or tumors in this syndrome.

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

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

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

  11. Surgical Management of Combined Intramedullary Arteriovenous Malformation and Perimedullary Arteriovenous Fistula within the Hybrid Operating Room after Five Years of Performing Focus Fractionated Radiotherapy: Case Report

    PubMed Central

    GEKKA, Masayuki; SEKI, Toshitaka; HIDA, Kazutoshi; OSANAI, Toshiya; HOUKIN, Kiyohiro

    2014-01-01

    Perimedullary arteriovenous fistula (AVF) shunts occur on the spinal cord surface and can be treated surgically or by endovascular embolization. In contrast, the nidus of an intramedullary arteriovenous malformation (AVM) is located in the spinal cord and is difficult to treat surgically or by endovascular techniques. The benefits of radiotherapy for treating intramedullary AVM have been published, but are anecdotal and consist largely of case reports. We present a case of combined cervical intramedullary AVM and perimedullary AVF which received surgical treatment within a hybrid operating room (OR) after 5 years of focus fractionated radiotherapy. A 37-year-old male presented with stepwise worsening myelopathy. Magnetic resonance imaging and spinal angiography revealed intramedullary AVM and perimedullary AVF at the C3 to C5 levels. In order to reduce nidus size and blood flow, we first performed focal fractionated radiotherapy. Five years later, the lesion volume was reduced. Following this, direct surgery was performed by an anterior approach using corpectomy in the hybrid OR. The spinal cord was monitored by motor-evoked potential throughout the surgery. Complete obliteration of the fistulous connection was confirmed by intraoperative indocyanine green video-angiography and intraoperative angiography, preserving the anterior spinal artery. We conclude that surgical treatment following focal fractionated radiotherapy may become one strategy for patients who are initially deemed ineligible for endovascular embolization and surgical treatment. Furthermore, the hybrid OR enables safe and precise treatment for spinal vascular disorders in the fields of endovascular treatment and neurosurgery. PMID:25367581

  12. Bad splits in bilateral sagittal split osteotomy: systematic review of fracture patterns.

    PubMed

    Steenen, S A; Becking, A G

    2016-07-01

    An unfavourable and unanticipated pattern of the mandibular sagittal split osteotomy is generally referred to as a 'bad split'. Few restorative techniques to manage the situation have been described. In this article, a classification of reported bad split pattern types is proposed and appropriate salvage procedures to manage the different types of undesired fracture are presented. A systematic review was undertaken, yielding a total of 33 studies published between 1971 and 2015. These reported a total of 458 cases of bad splits among 19,527 sagittal ramus osteotomies in 10,271 patients. The total reported incidence of bad split was 2.3% of sagittal splits. The most frequently encountered were buccal plate fractures of the proximal segment (types 1A-F) and lingual fractures of the distal segment (types 2A and 2B). Coronoid fractures (type 3) and condylar neck fractures (type 4) have seldom been reported. The various types of bad split may require different salvage approaches.

  13. Innovative solar thermochemical water splitting.

    SciTech Connect

    Hogan, Roy E. Jr.; Siegel, Nathan P.; Evans, Lindsey R.; Moss, Timothy A.; Stuecker, John Nicholas; Diver, Richard B., Jr.; Miller, James Edward; Allendorf, Mark D.; James, Darryl L.

    2008-02-01

    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.

  14. Segmented holographic spectrum splitting concentrator

    NASA Astrophysics Data System (ADS)

    Ayala, Silvana P.; Vorndran, Shelby; Wu, Yuechen; Chrysler, Benjamin; Kostuk, Raymond K.

    2016-09-01

    This paper presents a segmented parabolic concentrator employing holographic spectral filters that provide focusing and spectral bandwidth separation capability to the system. Strips of low band gap silicon photovoltaic (PV) cells are formed into a parabolic surface as shown by Holman et. al. [1]. The surface of the PV segments is covered with holographic elements formed in dichromated gelatin. The holographic elements are designed to transmit longer wavelengths to silicon cells, and to reflect short wavelength light towards a secondary collector where high-bandgap PV cells are mounted. The system can be optimized for different combinations of diffuse and direct solar illumination conditions for particular geographical locations by controlling the concentration ratio and filtering properties of the holographic elements. In addition, the reflectivity of the back contact of the silicon cells is used to increase the optical path length and light trapping. This potentially allows the use of thin film silicon for the low bandgap PV cell material. The optical design combines the focusing properties of the parabolic concentrator and the holographic element to control the concentration ratio and uniformity of the spectral distribution at the high bandgap cell location. The presentation concludes with a comparison of different spectrum splitting holographic filter materials for this application.

  15. Splitting Methods for Convex Clustering

    PubMed Central

    Chi, Eric C.; Lange, Kenneth

    2016-01-01

    Clustering is a fundamental problem in many scientific applications. Standard methods such as k-means, Gaussian mixture models, and hierarchical clustering, however, are beset by local minima, which are sometimes drastically suboptimal. Recently introduced convex relaxations of k-means and hierarchical clustering shrink cluster centroids toward one another and ensure a unique global minimizer. In this work we present two splitting methods for solving the convex clustering problem. The first is an instance of the alternating direction method of multipliers (ADMM); the second is an instance of the alternating minimization algorithm (AMA). In contrast to previously considered algorithms, our ADMM and AMA formulations provide simple and unified frameworks for solving the convex clustering problem under the previously studied norms and open the door to potentially novel norms. We demonstrate the performance of our algorithm on both simulated and real data examples. While the differences between the two algorithms appear to be minor on the surface, complexity analysis and numerical experiments show AMA to be significantly more efficient. This article has supplemental materials available online. PMID:27087770

  16. Lightweight electrical connector split backshell

    NASA Technical Reports Server (NTRS)

    Goldman, Elliot (Inventor)

    2009-01-01

    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.

  17. Split-field vs extended-field intensity-modulated radiation therapy plans for oropharyngeal cancer: Which spares the larynx? Which spares the thyroid?

    SciTech Connect

    Yu, Yao; Chen, Josephine; Leary, Celeste I.; Shugard, Erin; Yom, Sue S.

    2016-07-01

    Radiation of the low neck can be accomplished using split-field intensity-modulated radiation therapy (sf-IMRT) or extended-field intensity-modulated radiation therapy (ef-IMRT). We evaluated the effect of these treatment choices on target coverage and thyroid and larynx doses. Using data from 14 patients with cancers of the oropharynx, we compared the following 3 strategies for radiating the low neck: (1) extended-field IMRT, (2) traditional split-field IMRT with an initial cord-junction block to 40 Gy, followed by a full-cord block to 50 Gy, and (3) split-field IMRT with a full-cord block to 50 Gy. Patients were planned using each of these 3 techniques. To facilitate comparison, extended-field plans were normalized to deliver 50 Gy to 95% of the neck volume. Target coverage was assessed using the dose to 95% of the neck volume (D{sub 95}). Mean thyroid and larynx doses were computed. Extended-field IMRT was used as the reference arm; the mean larynx dose was 25.7 ± 7.4 Gy, and the mean thyroid dose was 28.6 ± 2.4 Gy. Split-field IMRT with 2-step blocking reduced laryngeal dose (mean larynx dose 15.2 ± 5.1 Gy) at the cost of a moderate reduction in target coverage (D{sub 95} 41.4 ± 14 Gy) and much higher thyroid dose (mean thyroid dose 44.7 ± 3.7 Gy). Split-field IMRT with initial full-cord block resulted in greater laryngeal sparing (mean larynx dose 14.2 ± 5.1 Gy) and only a moderately higher thyroid dose (mean thyroid dose 31 ± 8 Gy) but resulted in a significant reduction in target coverage (D{sub 95} 34.4 ± 15 Gy). Extended-field IMRT comprehensively covers the low neck and achieves acceptable thyroid and laryngeal sparing. Split-field IMRT with a full-cord block reduces laryngeal doses to less than 20 Gy and spares the thyroid, at the cost of substantially reduced coverage of the low neck. Traditional 2-step split-field IMRT similarly reduces the laryngeal dose but also reduces low-neck coverage and delivers very high doses to the thyroid.

  18. Split-field vs extended-field intensity-modulated radiation therapy plans for oropharyngeal cancer: Which spares the larynx? Which spares the thyroid?

    PubMed

    Yu, Yao; Chen, Josephine; Leary, Celeste I; Shugard, Erin; Yom, Sue S

    2016-01-01

    Radiation of the low neck can be accomplished using split-field intensity-modulated radiation therapy (sf-IMRT) or extended-field intensity-modulated radiation therapy (ef-IMRT). We evaluated the effect of these treatment choices on target coverage and thyroid and larynx doses. Using data from 14 patients with cancers of the oropharynx, we compared the following 3 strategies for radiating the low neck: (1) extended-field IMRT, (2) traditional split-field IMRT with an initial cord-junction block to 40Gy, followed by a full-cord block to 50Gy, and (3) split-field IMRT with a full-cord block to 50Gy. Patients were planned using each of these 3 techniques. To facilitate comparison, extended-field plans were normalized to deliver 50Gy to 95% of the neck volume. Target coverage was assessed using the dose to 95% of the neck volume (D95). Mean thyroid and larynx doses were computed. Extended-field IMRT was used as the reference arm; the mean larynx dose was 25.7 ± 7.4Gy, and the mean thyroid dose was 28.6 ± 2.4Gy. Split-field IMRT with 2-step blocking reduced laryngeal dose (mean larynx dose 15.2 ± 5.1Gy) at the cost of a moderate reduction in target coverage (D95 41.4 ± 14Gy) and much higher thyroid dose (mean thyroid dose 44.7 ± 3.7Gy). Split-field IMRT with initial full-cord block resulted in greater laryngeal sparing (mean larynx dose 14.2 ± 5.1Gy) and only a moderately higher thyroid dose (mean thyroid dose 31 ± 8Gy) but resulted in a significant reduction in target coverage (D95 34.4 ± 15Gy). Extended-field IMRT comprehensively covers the low neck and achieves acceptable thyroid and laryngeal sparing. Split-field IMRT with a full-cord block reduces laryngeal doses to less than 20Gy and spares the thyroid, at the cost of substantially reduced coverage of the low neck. Traditional 2-step split-field IMRT similarly reduces the laryngeal dose but also reduces low-neck coverage and delivers very high doses to the thyroid.

  19. Field by field hybrid upwind splitting methods

    NASA Technical Reports Server (NTRS)

    Coquel, Frederic; Liou, Meng-Sing

    1993-01-01

    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.

  20. Budgeted phylogenetic diversity on circular split systems.

    PubMed

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

    2009-01-01

    In the last 15 years, Phylogenetic Diversity (PD) has gained interest in the community of conservation biologists as a surrogate measure for assessing biodiversity. We have recently proposed two approaches to select taxa for maximizing PD, namely PD with budget constraints and PD on split systems. In this paper, we will unify these two strategies and present a dynamic programming algorithm to solve the unified framework of selecting taxa with maximal PD under budget constraints on circular split systems. An improved algorithm will also be given if the underlying split system is a tree.

  1. A Crater Split In Two

    NASA Technical Reports Server (NTRS)

    2003-01-01

    [figure removed for brevity, see original site]

    Released 23 September 2003

    A 22 km-diameter crater has been sliced by the tectonic forces that produced the rift known as Sirenum Fossae. The orientation of this rift is roughly radial to the great Tharsis volcano Arsia Mons, probably indicating a link between the formation of the rift and the volcano. Note how the rift cuts through a jumble of mounds on the floor of the crater. This indicates a sequence of events beginning with the formation of the crater followed by an infilling of material that was then eroded into the mounds and ultimately split open by the shifting martian crust.

    Image information: VIS instrument. Latitude -29.7, Longitude 211.7 East (148.3 West). 19 meter/pixel resolution.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.

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

    PubMed Central

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

    2015-01-01

    Bronchogenic cysts (BCs) are congenital malformations that originate from remnants of the primitive foregut. Intraspinal BCs, especially those of the conus medullaris are rare with only one case reported until now. To date, a bronchogenic cyst with spinal cord tethering has not been previously reported. We reviewed the clinical course of a 44-year-old woman, who presented with low back pain and leg weaknesss as well as sphincter disturbance. Magnetic resonance imaging showed an intradural oval mass located at the conus medullaris. A tethered cord was also observed, as well as a dermal sinus tract. The mass was totally removed after an L3-L4 laminectomy without detethering during operation. Pathologic examination confirmed the diagnosis of bronchogenic cyst. By six months after treatment, the patient had experienced nearly complete recovery. The review of literature indicated that detethering was performed in most reported cases of neurenteric cysts with spinal cord tethering, and one of six patients was diagnosed with a postoperative recurrence. The co-existence of bronchogenic cyst and a tethered spinal cord would imply associated developmental errors in embryogenesis. It is worth noting that whether detethering is necessary after the cyst removal. PMID:26097578

  3. The shortened spinal cord in tetraodontiform fishes.

    PubMed

    Uehara, Masato; Hosaka, Yoshinao Z; Doi, Hiroyuki; Sakai, Harumi

    2015-03-01

    In teleosts, the spinal cord generally extends along the entire vertebral canal. The Tetraodontiformes, in which the spinal cord is greatly reduced in length with a distinct long filum terminale and cauda equina, have been regarded as an aberration. The aims of this study are: 1) to elucidate whether the spinal cord in all tetraodontiform fishes shorten with the filum terminale, and 2) to describe the gross anatomical and histological differences in the spinal cord among all families of the Tetraodontiformes. Representative species from all families of the Tetraodontiformes, and for comparison the carp as a common teleost, were investigated. In the Triacanthodidae, Triacanthidae, and Triodontidae, which are the more ancestral taxa of the Tetraodontiformes, the spinal cord extends through the entire vertebral canal. In the Triacanthidae and Triodontidae, the caudal half or more spinal segments of the spinal cord, however, lack gray matter and consist largely of nerve fibers. In the other tetraodontiform families, the spinal cord is shortened forming a filum terminale with the cauda equina, which is prolonged as far as the last vertebra. The shortened spinal cord is divided into three groups. In the Ostraciidae and Molidae, the spinal cord tapers abruptly at the cranium or first vertebra forming a cord-like filum terminale. In the Monacanthidae, Tetraodontidae, and Diodontidae, it abruptly flattens at the rostral vertebrae forming a flat filum terminale. The spinal cord is relatively longer in the Monacanthidae than that in the other two families. It is suggested by histological features of the flat filum terminale that shortening of the spinal cord in this group progresses in order of the Monacanthidae, Tetraodontidae, and Diodontidae. In the Balistidae and Aracanidae, the cord is relatively long and then gradually decreased in dorso-ventral thickness.

  4. 29 CFR 1926.908 - Use of detonating cord.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... cord extending out of a bore hole or from a charge shall be cut from the supply spool before loading... methods. Knot-type or other cord-to-cord connections shall be made only with detonating cord in which the... kinks, or angles that direct the cord back toward the oncoming line of detonation. (g) All...

  5. 29 CFR 1926.908 - Use of detonating cord.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... cord extending out of a bore hole or from a charge shall be cut from the supply spool before loading... methods. Knot-type or other cord-to-cord connections shall be made only with detonating cord in which the... kinks, or angles that direct the cord back toward the oncoming line of detonation. (g) All...

  6. Multiple disseminated glomuvenous malformations: do we know enough?

    PubMed

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

    2012-01-01

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

  7. Stereotactic radiosurgery with the linear accelerator: treatment of arteriovenous malformations.

    PubMed

    Betti, O O; Munari, C; Rosler, R

    1989-03-01

    An original stereotactic radiosurgical approach coupling a) Talairach's stereotactic methodology, b) a specially devised mechanical system, and c) a linear accelerator is detailed. The authors present their preliminary results on 66 patients with nonsurgical intracranial arteriovenous malformations. The doses delivered for treatment varied from 20 to 70 Gy. Doses of no more than 40 Gy were used in 80% of patients. An angiographic study was performed when the computed tomographic scan controls showed relevant modifications of the lesion volume. Total obliteration was obtained in 27 of the 41 patients (65.8%) who were followed up for at least 24 months. The percentage of the cured patients is significantly higher when a) the entire malformation is included in the 75% isodose (96%) and b) the maximum diameter of the lesion is less than 12 mm (81%). Two patients died of rebleeding at 18 and 29 months after treatment.

  8. Linear accelerator radiosurgery for arteriovenous malformations: Updated literature review.

    PubMed

    Yahya, S; Heyes, G; Nightingale, P; Lamin, S; Chavda, S; Geh, I; Spooner, D; Cruickshank, G; Sanghera, P

    2017-04-01

    Arteriovenous malformations (AVMs) are the leading causing of intra-cerebral haemorrhage. Stereotactic radiosurgery (SRS) is an established treatment for arteriovenous malformations (AVM) and commonly delivered using Gamma Knife within dedicated radiosurgery units. Linear accelerator (LINAC) SRS is increasingly available however debate remains over whether it offers an equivalent outcome. The aim of this project is to evaluate the outcomes using LINAC SRS for AVMs used within a UK neurosciences unit and review the literature to aid decision making across various SRS platforms. Results have shown comparability across platforms and strongly supports that an adapted LINAC based SRS facility within a dynamic regional neuro-oncology department delivers similar outcomes (in terms of obliteration and toxicity) to any other dedicated radio-surgical platform. Locally available facilities can facilitate discussion between options however throughput will inevitably be lower than centrally based dedicated national radiosurgery units.

  9. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  10. Use of tramadol in early pregnancy and congenital malformation risk.

    PubMed

    Källén, Bengt; Reis, Margareta

    2015-12-01

    Only few studies exist regarding the risk of a teratogenic effect of tramadol when used in early pregnancy. Using the Swedish Medical Birth Register, women (deliveries in 1997-2013) who had reported the use of tramadol in early pregnancy were identified. Maternal characteristics and concomitant drug use were analyzed. Among 1,682,846 women (1,797,678 infants), 1751 (1776 infants) had used tramadol, 96 of the infants had a congenital malformation and 70 of them were relatively severe. The adjusted odds ratio for a relatively severe malformation was 1.33 (95% CI 1.05-1.70). The odds ratios for cardiovascular defects (1.56, 95% CI 1.04-2.29) and for pes equinovarus (3.63, 95% CI 1.61-6.89) were significantly increased. The study suggests a teratogenic effect of tramadol but the risk increase is moderate.

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

    PubMed

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

    2014-04-01

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

  12. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    PubMed

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions.

  13. [The newborn infant with a suspected malformation syndrome].

    PubMed

    Memo, L

    2010-06-01

    Congenital malformations occur in 2-3% of live births, and often represent a special diagnostic and management challenge. Few clinical guidelines exist to assist the neonatologist in the approach to diagnosis and initial management of the malformed newborn. To provide optimal care for these children, one must employ a systematic approach to identify the likely pathogenic mechanism leading to the birth defects present. Determining how distinct anomalies relate to one another may lead to elucidation of a specific genetic etiology for the patient's condition. Genetic testing is increasingly available to allow for diagnostic confirmation. Using this systematic approach to a child with congenital anomalies permits accurate prognostic and recurrence risk counseling, informed management decisions, and the appropriate allocation of social support and medical resources.

  14. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

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

  15. Giant splenic artery aneurysm associated with arteriovenous malformation.

    PubMed

    Agrawal, Aditya; Whitehouse, Richard; Johnson, Robert W; Augustine, Titus

    2006-12-01

    Giant splenic artery aneurysms are extremely rare entities that have important clinical implications. The size and the natural history pose unique challenges in the management of these lesions. We present one such case that was associated with a primary arteriovenous malformation in the splenic hilum. This is the third largest aneurysm reported in literature so far and the characteristic feature is that this is the first case of a hilar arteriovenous fistula complicated by formation of a giant aneurysm and another smaller aneurysm. In our opinion the hilar malformation was congenital in origin and responsible for the formation of the two aneurysms. We also present an up to date review of literature on this subject.

  16. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  17. A malformed newborn with 9p and 4q trisomy.

    PubMed

    Fryns, J P; Azou, M; Devliegher, H; Eggermont, E; van den Berghe, H

    1981-01-01

    A malformed male newborn with partial trisomy 9p (qter-9q13) and distal 4q trisomy (4qter-4q31), being the unbalanced product of a balanced reciprocal translocation in the mother karyotype: 46,XX,t(4;9)(q31;q13) is reported. Besides the typical craniofacial stigmata of pure 9q trisomy the child presented with poor neurological condition and failure to thrive.

  18. Headache and Chiari I Malformation in Children and Adolescents.

    PubMed

    Victorio, M Cristina; Khoury, Chaouki K

    2016-02-01

    Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also often found incidentally in neuroimaging done for conditions other than headache. This article reviews the spectrum of headache in patients with CM I.

  19. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

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

  20. From the aerospace medicine residents' teaching file. Pulmonary arteriovenous malformations.

    PubMed

    Beckstrand, Devin P

    2004-07-01

    A USAF transport pilot was referred to the Aeromedical Consult Service for a cardiology work-up. During his evaluation for an abnormal treadmill, a chest X-ray showed a probable pulmonary arteriovenous malformation (PAVM). A CT scan of his chest and a shunt study confirmed this diagnosis. The aviator was referred for treatment and later underwent successful balloon embolization therapy. A discussion of PAVM presentation, diagnosis, treatment, and aeromedical aspects follows.

  1. Gated magnetic resonance imaging of congenital cardiac malformations

    SciTech Connect

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

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

  2. Cochlear implantation in the Mondini inner ear malformation.

    PubMed

    Miyamoto, R T; Robbins, A J; Myres, W A; Pope, M L

    1986-07-01

    We report the case of a profoundly deaf 4-year-old boy with congenital deafness as a result of Mondini's dysplasia. The Mondini inner ear malformation is the result of arrested labyrinthine development during embryogenesis and is characterized by both bony and membranous anomalies of the inner ear. The dysplastic cochlear anatomy does not preclude successful cochlear implantation, and electrical threshold measurements are similar to those recorded in pediatric subjects deafened as a result of other causes.

  3. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location.

  4. Bilateral radial hemimelia and multiple malformations in a kitten.

    PubMed

    Pisoni, Luciano; Cinti, Filippo; Del Magno, Sara; Joechler, Monika

    2012-08-01

    Hemimelia is a congenital disease of complete or partial absence of one or more bones. The most important hypothesis is that radial agenesis is a consequence of neural crest injury. Treatment selection depends on the degree of the deformity and the reduction of limb function. This report describes a case of bilateral radial hemimelia and multiple malformations in a kitten aged 2 months treated conservatively with splint bandage, until bone maturity. The re-evaluation was performed 4 years later.

  5. Congenital malformations: an inquiry into classification and nomenclature.

    PubMed Central

    Kalter, H

    1998-01-01

    In the beginning, as a familiar book recalls, the earth was a formless void. And by separating light from dark, water from sky, life from dust, order came forth. Thus appeared organisation and categorisation. This is to say, classification, since to classify is to make for order and clarity. These are the qualities needed today for the study of congenital malformations and eventual control of their occurrence. What follows is an inquiry into the present state of this desideratum. PMID:9719373

  6. Spine malformation complex in 3 diverse syndromic entities

    PubMed Central

    Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

    2016-01-01

    Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

  7. Split Brain Theory: Implications for Nurse Educators.

    ERIC Educational Resources Information Center

    de Meneses, Mary

    1980-01-01

    Discusses incorporating nontraditional concepts of learning in nursing education. Elements explored include the split brain theory, school design, teaching styles, teacher's role, teaching strategies, adding variety to the curriculum, and modular learning. (CT)

  8. Solar activity and oscillation frequency splittings

    NASA Technical Reports Server (NTRS)

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

    1993-01-01

    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.

  9. The problem of split comets in review

    NASA Technical Reports Server (NTRS)

    Sekanina, Z.

    1982-01-01

    Cometary splitting is investigated from the dynamical and physical standpoints. A simple two-parameter model is proposed in which the rate of recession of the fragments is determined by the momentum from outgassing, so that the net differential force is of the same nature as the nongravitational perturbations detected in the motions of unsplit comets; the two parameters of the model are the differential radial acceleration and the time of splitting. It is shown that the model successfully represents the positional observations of nearly all the 21 known split comets. The following candidate triggering mechanisms for cometary splitting are considered: tidal forces, rotation, dust-mantle dumping, and radioactive heating. A model that fits the dynamical data and physical characteristics is presented which suggests that most fragments must be appreciably nonspherical and rapidly precessing.

  10. Split Fingernails: Can They Be Prevented?

    MedlinePlus

    ... your fingernails dry. Repeated or prolonged contact with water can contribute to split fingernails. Wear cotton-lined rubber gloves when washing dishes, cleaning or using harsh chemicals. Practice good nail hygiene. ...

  11. Irrational beliefs, attitudes about competition, and splitting.

    PubMed

    Watson, P J; Morris, R J; Miller, L

    2001-03-01

    Rational-Emotive Behavior Therapy (REBT) theoretically promotes actualization of both individualistic and social-oriented potentials. In a test of this assumption, the Belief Scale and subscales from the Survey of Personal Beliefs served as measures of what REBT presumes to be pathogenic irrationalities. These measures were correlated with the Hypercompetitive Attitude Scale (HCAS), the Personal Development Competitive Attitude Scale (PDCAS), factors from the Splitting Index, and self-esteem. Results for the HCAS and Self-Splitting supported the REBT claim about individualistic self-actualization. Mostly nonsignificant and a few counterintuitive linkages were observed for irrational beliefs with the PDCAS, Family-Splitting, and Other-Splitting, and these data suggested that REBT may be less successful in capturing the "rationality" of a social-oriented self-actualization.

  12. Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations.

    PubMed

    Acosta, Maria T; Walsh, Karin S; Kardel, Peter G; Kutteruf, Rachel E; Bhatt, Rujuta R; Bouton, Tara C; Vezina, Louis-Gilbert; Packer, Roger J

    2012-04-01

    Neurofibromatosis type 1 is a genetic condition associated with increased risk of abnormal brain development. The relationship between a specific type of brain malformation and a distinct cognitive sign/deficiency remains unknown. This study investigated the frequency of brain malformations in children with neurofibromatosis type 1, and the impact of those brain malformations on cognitive performance. A retrospective examination was performed of cranial magnetic resonance imaging and clinical records in 604 neurofibromatosis type 1 patients. Eighteen patients with brain malformations and intellectual evaluations were available and compared to a subset of neurofibromatosis type 1 patients (n = 20) without brain malformations. The most common brain malformations included hypothalamic hamartomas and Chiari I malformation. More complex migration disorders were also observed. Comparisons of cognitive profiles between groups revealed differences in patients with hamartomas compared with those manifesting Chiari I malformations or control subjects. As a group, those with hamartomas demonstrated below-average global intellect, whereas patients with Chiari I or no malformations performed in the average range. Disorders in cell organization, expressed as brain malformations (hamartomas or more complex defects), may comprise part of the expression of organizational and developmental defects in patients with neurofibromatosis type 1 and possibly other rat sarcoma gene-mitogen activated protein kinase pathway disorders.

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

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

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

  14. Editorial brain malformation surveillance in the Zika era

    PubMed Central

    Trevathan, Edwin

    2016-01-01

    The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

  15. Venous malformation: update on aetiopathogenesis, diagnosis and management.

    PubMed

    Dompmartin, A; Vikkula, M; Boon, L M

    2010-10-01

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

  16. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

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

    2013-01-01

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

  17. Sonography of fetal Dandy-Walker malformation: a reappraisal.

    PubMed

    Pilu, G; Goldstein, I; Reece, E A; Perolo, A; Foschini, M P; Hobbins, J C; Bovicelli, L

    1992-05-01

    Thirty-four cases of fetal Dandy-Walker malformation recognized in utero with ultrasound between 16 and 37 weeks' gestation are reported. In each case a qualitative examination of the posterior fossa structures was performed, including the cerebellar hemispheres, cerebellar vermis, fourth ventricle and cisterna magna. In each case, the transverse cerebellar diameter and the depth of the cisterna magna were measured in a standard transcerebellar view of the fetal brain. The atrial width of the lateral ventricles was also assessed. The transverse cerebellar diameter was abnormal in 15 cases, the cisterna magna depth was abnormal in 33, and the atrial width was abnormal in 30. It is concluded that measurement of the transverse cerebellar diameter is unreliable in predicting fetal Dandy-Walker malformation. Measurements of the cisterna magna and atrium seem to be more valuable, although the real sensitivity remains unclear. In pregnancies at risk for fetal Dandy-Walker malformation, the sonographic examination should not be limited to the cerebral ventricles and transcerebellar view but should include a detailed evaluation of all the different anatomical components of the posterior fossa, especially the fourth ventricle and inferior cerebellar vermis.

  18. OBESITY AND THE RISK AND DETECTION OF FETAL MALFORMATIONS

    PubMed Central

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

    2012-01-01

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

  19. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    PubMed Central

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

    2005-01-01

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

  20. Congenital inner ear malformations without sensorineural hearing loss.

    PubMed

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  1. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

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

    2013-01-01

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

  2. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  3. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice

    PubMed Central

    Bravi, Luca; Rudini, Noemi; Cuttano, Roberto; Giampietro, Costanza; Maddaluno, Luigi; Ferrarini, Luca; Adams, Ralf H.; Corada, Monica; Boulday, Gwenola; Tournier-Lasserve, Elizabeth; Dejana, Elisabetta; Lampugnani, Maria Grazia

    2015-01-01

    Cerebral cavernous malformation (CCM) is a disease of the central nervous system causing hemorrhage-prone multiple lumen vascular malformations and very severe neurological consequences. At present, the only recommended treatment of CCM is surgical. Because surgery is often not applicable, pharmacological treatment would be highly desirable. We describe here a murine model of the disease that develops after endothelial-cell–selective ablation of the CCM3 gene. We report an early, cell-autonomous, Wnt-receptor–independent stimulation of β-catenin transcription activity in CCM3-deficient endothelial cells both in vitro and in vivo and a triggering of a β-catenin–driven transcription program that leads to endothelial-to-mesenchymal transition. TGF-β/BMP signaling is then required for the progression of the disease. We also found that the anti-inflammatory drugs sulindac sulfide and sulindac sulfone, which attenuate β-catenin transcription activity, reduce vascular malformations in endothelial CCM3-deficient mice. This study opens previously unidentified perspectives for an effective pharmacological therapy of intracranial vascular cavernomas. PMID:26109568

  4. Lean Umbilical Cord – a Case Report

    PubMed Central

    Rippinger, N.; Elsässer, M.; Sinn, P.; Sohn, C.; Fluhr, H.

    2016-01-01

    The “lean” umbilical cord (also known as thin-cord syndrome) is a comparatively rare anomaly of the umbilical cord, which has seldom been described in the medical literature. We report on a 35-year-old women who presented to us at 29 + 4 weeks gestation with vaginal bleeding and cervical incompetence subsequently complicated not only by premature rupture of membranes but also acute placental insufficiency requiring emergency caesarean section under general anaesthesia at 31 + 2 weeks gestation. At surgery no obvious cause for the acute placental insufficiency – such as placental abruption, cord prolapse or true knot of the umbilical cord – was found. Other possible causes such as vasa praevia or placenta praevia had previously been excluded sonographically on admission for vaginal bleeding. The only notable intraoperative finding was a macroscopically extremely thin umbilical cord. PMID:27904169

  5. Conduction band valley splitting in Si

    NASA Astrophysics Data System (ADS)

    Klimeck, Gerhard; Boykin, T. B.; Eriksson, M.; Friesen, M.; Coppersmith, S. N.; von Allmen, P.; Oyafuso, F.; Lee, S.

    2004-03-01

    A theory based on localized-orbital approaches is developed to describe the valley splitting observed in silicon nano-structures. The theory is appropriate in the limit of low electron density and relevant for proposed quantum computing architectures. The valley splitting is computed for realistic devices using the quantitative nanoelectronic modeling tool NEMO using the empirical tight binding model sp^3d^5s. The tight binding parameters have been fitted to bulk bandstructure behavior of Si using a genetic algorithm. A 1-D quantum well simulation in NEMO shows the basic features of conduction band valley splitting as a coherent, confinement-induced phenomenon. No additional intervalley scattering parameters are needed. The splitting is in general nonzero even in the absence of electric field. The splitting oscillates as a function of N, the number of layers in the quantum well, with a period that is determined by the location of the valley minimum in the Brillouin zone. The envelope of the splitting decays as N^3. The qualitative physics remain the same irrespective of the details of the quantum well boundaries or the details of the strain treatment in the quantum well.

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

    PubMed

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

    2013-01-01

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

  7. Spinal Cord Repair with Engineered Nervous Tissue

    DTIC Science & Technology

    2011-10-01

    funded grant, we demonstrated proof-of-concept success of bridging a lateral hemisection of the rat spinal cord with engineered (“stretch-grown...AD_________________ Award Number: W81XWH-10-1-0941 TITLE: Spinal Cord Repair with Engineered...5a. CONTRACT NUMBER Spinal Cord Repair with Engineered Nervous Tissue 5b. GRANT NUMBER W81XWH-10-1-0941 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR

  8. Spinal Cord Repair with Engineered Nervous Tissue

    DTIC Science & Technology

    2012-10-01

    success of bridging a lateral hemisection in the rat spinal cord with engineered (“stretch-grown”) living nervous tissue constructs 2 . For the current...AD_________________ Award Number: W81XWH-10-1-0941 TITLE: Spinal Cord Repair with Engineered...SUBTITLE Spinal Cord Repair with Engineered Nervous Tissue 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-10-1-0941 5c. PROGRAM ELEMENT NUMBER 6

  9. Magnetic resonance imaging-based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I: a pilot study.

    PubMed

    Alperin, Noam; Loftus, James Ryan; Bagci, Ahmet M; Lee, Sang H; Oliu, Carlos J; Shah, Ashish H; Green, Barth A

    2017-01-01

    OBJECTIVE This study identifies quantitative imaging-based measures in patients with Chiari malformation Type I (CM-I) that are associated with positive outcomes after suboccipital decompression with duraplasty. METHODS Fifteen patients in whom CM-I was newly diagnosed underwent MRI preoperatively and 3 months postoperatively. More than 20 previously described morphological and physiological parameters were derived to assess quantitatively the impact of surgery. Postsurgical clinical outcomes were assessed in 2 ways, based on resolution of the patient's chief complaint and using a modified Chicago Chiari Outcome Scale (CCOS). Statistical analyses were performed to identify measures that were different between the unfavorable- and favorable-outcome cohorts. Multivariate analysis was used to identify the strongest predictors of outcome. RESULTS The strongest physiological parameter predictive of outcome was the preoperative maximal cord displacement in the upper cervical region during the cardiac cycle, which was significantly larger in the favorable-outcome subcohorts for both outcome types (p < 0.05). Several hydrodynamic measures revealed significantly larger preoperative-to-postoperative changes in the favorable-outcome subcohort. Predictor sets for the chief-complaint classification included the cord displacement, percent venous drainage through the jugular veins, and normalized cerebral blood flow with 93.3% accuracy. Maximal cord displacement combined with intracranial volume change predicted outcome based on the modified CCOS classification with similar accuracy. CONCLUSIONS Tested physiological measures were stronger predictors of outcome than the morphological measures in patients with CM-I. Maximal cord displacement and intracranial volume change during the cardiac cycle together with a measure that reflects the cerebral venous drainage pathway emerged as likely predictors of decompression outcome in patients with CM-I.

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

    SciTech Connect

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

    2012-06-20

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

  11. Therapeutic approaches for spinal cord injury

    PubMed Central

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

    2012-01-01

    This study reviews the literature concerning possible therapeutic approaches for spinal cord injury. Spinal cord injury is a disabling and irreversible condition that has high economic and social costs. There are both primary and secondary mechanisms of damage to the spinal cord. The primary lesion is the mechanical injury itself. The secondary lesion results from one or more biochemical and cellular processes that are triggered by the primary lesion. The frustration of health professionals in treating a severe spinal cord injury was described in 1700 BC in an Egyptian surgical papyrus that was translated by Edwin Smith; the papyrus reported spinal fractures as a “disease that should not be treated.” Over the last two decades, several studies have been performed to obtain more effective treatments for spinal cord injury. Most of these studies approach a patient with acute spinal cord injury in one of four manners: corrective surgery or a physical, biological or pharmacological treatment method. Science is unraveling the mechanisms of cell protection and neuroregeneration, but clinically, we only provide supportive care for patients with spinal cord injuries. By combining these treatments, researchers attempt to enhance the functional recovery of patients with spinal cord injuries. Advances in the last decade have allowed us to encourage the development of experimental studies in the field of spinal cord regeneration. The combination of several therapeutic strategies should, at minimum, allow for partial functional recoveries for these patients, which could improve their quality of life. PMID:23070351

  12. Survival Rates for Selected Childhood Brain and Spinal Cord Tumors

    MedlinePlus

    ... Diagnosis, and Staging Survival Rates for Selected Childhood Brain and Spinal Cord Tumors Survival rates are often ... Childhood Brain and Spinal Cord Tumors More In Brain and Spinal Cord Tumors in Children About Brain ...

  13. Testosterone Plus Finasteride Treatment After Spinal Cord Injury

    ClinicalTrials.gov

    2017-01-24

    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

  14. Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases

    PubMed Central

    Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.

    2013-01-01

    Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication. PMID:23960313

  15. Application potential of bone marrow mesenchymal stem cell (BMSCs) based tissue-engineering for spinal cord defect repair in rat fetuses with spina bifida aperta.

    PubMed

    Li, Xiaoshuai; Yuan, Zhengwei; Wei, Xiaowei; Li, Hui; Zhao, Guifeng; Miao, Jiaoning; Wu, Di; Liu, Bo; Cao, Songying; An, Dong; Ma, Wei; Zhang, Henan; Wang, Weilin; Wang, Qiushi; Gu, Hui

    2016-04-01

    Spina bifida aperta are complex congenital malformations resulting from failure of fusion in the spinal neural tube during embryogenesis. Despite surgical repair of the defect, most patients who survive with spina bifida aperta have a multiple system handicap due to neuron deficiency of the defective spinal cord. Tissue engineering has emerged as a novel treatment for replacement of lost tissue. This study evaluated the prenatal surgical approach of transplanting a chitosan-gelatin scaffold seeded with bone marrow mesenchymal stem cells (BMSCs) in the healing the defective spinal cord of rat fetuses with retinoic acid induced spina bifida aperta. Scaffold characterisation revealed the porous structure, organic and amorphous content. This biomaterial promoted the adhesion, spreading and in vitro viability of the BMSCs. After transplantation of the scaffold combined with BMSCs, the defective region of spinal cord in rat fetuses with spina bifida aperta at E20 decreased obviously under stereomicroscopy, and the skin defect almost closed in many fetuses. The transplanted BMSCs in chitosan-gelatin scaffold survived, grew and expressed markers of neural stem cells and neurons in the defective spinal cord. In addition, the biomaterial presented high biocompatibility and slow biodegradation in vivo. In conclusion, prenatal transplantation of the scaffold combined with BMSCs could treat spinal cord defect in fetuses with spina bifida aperta by the regeneration of neurons and repairmen of defective region.

  16. Familial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature.

    PubMed

    Nagy, Laszlo; Mobley, James; Ray, Coby

    2016-01-01

    This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the transmission of Chiari malformation. The family reported in this study also has a significant incidence of Ehlers-Danlos. Three sisters, including a set of twins, presented with confirmed cases of Chiari malformation and four of the five children of the twin sisters presented with confirmed or suspected Chiari malformation. Of note, the non-twin sister has three children who are unaffected. This report provides further evidence for a shared loci between the Chiari malformation and Ehlers-Danlos.

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

    SciTech Connect

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

    1999-12-01

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

  18. Antennal malformations in light ocelli drones of Apis mellifera (Hymenoptera, Apidae).

    PubMed

    Chaud-Netto, J

    2000-02-01

    Malformed antennae of Apis mellifera light ocelli drones were drawn, dissected and mounted permanently on slides containing Canada balsam, in order to count the olfactory discs present in each segment, in comparison with the number of those structures in normal antennae of their brothers. Some drones presented morphological abnormalities in a single segment of the right or left antenna, but others had two or more malformed segments in a same antenna. Drones with malformations in both antennae were also observed. The 4th and 5th flagellum segments were the most frequently affected. In a low number of cases the frequency of olfactory discs in malformed segments did not differ from that one recorded for normal segments. However, in most cases studied, the antennal malformations brought about a significant reduction in the number of olfactory discs from malformed segments.

  19. [A case of basilar impression treated with mandible splitting transoral approach].

    PubMed

    Young-Su, P; Ishikawa, J; Matsumoto, M; Sato, T; Owaki, H

    1997-05-01

    We report a case of basilar impression treated with mandible splitting transoral approach surgery. A 39-year-old man presented a ten-year history of gait disturbance. He had experienced acceleration of his spastic paraparesis for the past few years. Neurological examination on admission demonstrated tetraparesis (MMT4/5), severe hyperreflexia in his arms and legs, severe sensory loss below C2, urinary retention and inability to open his mouth widely. Radiological findings showed the dens and the body of C2 are deeply invaginated to the atlas and the foramen magnum and medulla and upper cervical cord were markedly compressed by this basilar invagination. After carrying out posterior decompression and occipito-cervical fixation, we attempted to remove the invaginated dens and the C2 vertebral body using a conventional transoral approach. But limitation of mouth opening made operative fields narrow. Consequently because of insufficient anterior decompression his neurological deficits could not be alleviated. Employment of mandible splitting procedure brought about a wide operative view so that complete removal of the residual dens and 70% drilling out of the C2 body was made possible. Postoperative complications were negligible. Finally, great alleviation of his deficits was achieved. Mandible splitting procedure is effective for obtaining a wide operative field on the anterior approach to the craniocervical junction.

  20. Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment.

    PubMed

    Boersma, Doeke; Koot, Bart G; van der Griendt, Erik Jonas; van Rijn, Rick R; van der Steeg, Alida F

    2012-10-01

    Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later diagnosed as a rare form of a communicating bronchopulmonary foregut malformation, an esophageal atresia combined with right main bronchus originating from the lower esophagus. Therapeutic resection of the right lung was complicated by postpneumonectomy syndrome.

  1. Chiari I malformation as part of the Floating-Harbor syndrome?

    PubMed

    Kurzbuch, Arthur R; Magdum, Shailendra

    2016-12-01

    We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation.

  2. Definitions and Anatomic Considerations in Chiari I Malformation and Associated Syringomyelia.

    PubMed

    Tubbs, R Shane

    2015-10-01

    Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed.

  3. Nonsurgical treatment for esotropia secondary to Arnold-Chiari I malformation: A case report.

    PubMed

    Baxstrom, Curtis R

    2009-09-01

    A 14-year-old girl with diplopia and esotropia secondary to Arnold-Chiari I malformation was surgically treated with Arnold-Chiari I malformation decompression (suboccipital craniectomy), C1 and partial C2 laminectomy, and duraplasty. The residual esotropia was treated with compensatory prisms and vision therapy more than 1 year after Arnold-Chiari malformation surgery. The esotropia was resolved after approximately 3.5 months of treatment. Five years later, the patient continued to maintain fusion without compensatory prism.

  4. Autism Spectrum Disorder and Chiari 1 Malformation Co-occurring in a Child.

    PubMed

    Osuagwu, Ferdnand C; Amalraj, Benedict; Noveloso, Bernard D; Aikoye, Salisu A; Bradley, Ronald

    2016-03-20

    Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum disorder as biologically based neurodevelopmental disorder with altered brain growth may be associated with Chiari 1 malformation and ADHD.

  5. Emerging role of contrast-enhanced MRI in diagnosing vascular malformations.

    PubMed

    Turley, Ryan S; Lidsky, Michael E; Markovic, Jovan N; Shortell, Cynthia K

    2014-07-01

    Vascular malformations comprise a diverse and rare group of lesions which generally pose a formidable treatment challenge. Requisite for optimal surgical planning are imaging modalities capable of delineating involved anatomy and malformation flow characteristics. In this regard, we and others have purported the advantages of contrast-enhanced MRI. Here, we review the current body of literature regarding the emerging of role of contrast enhanced MRI for the management of vascular malformations.

  6. Segmentation of the human spinal cord.

    PubMed

    De Leener, Benjamin; Taso, Manuel; Cohen-Adad, Julien; Callot, Virginie

    2016-04-01

    Segmenting the spinal cord contour is a necessary step for quantifying spinal cord atrophy in various diseases. Delineating gray matter (GM) and white matter (WM) is also useful for quantifying GM atrophy or for extracting multiparametric MRI metrics into specific WM tracts. Spinal cord segmentation in clinical research is not as developed as brain segmentation, however with the substantial improvement of MR sequences adapted to spinal cord MR investigations, the field of spinal cord MR segmentation has advanced greatly within the last decade. Segmentation techniques with variable accuracy and degree of complexity have been developed and reported in the literature. In this paper, we review some of the existing methods for cord and WM/GM segmentation, including intensity-based, surface-based, and image-based methods. We also provide recommendations for validating spinal cord segmentation techniques, as it is important to understand the intrinsic characteristics of the methods and to evaluate their performance and limitations. Lastly, we illustrate some applications in the healthy and pathological spinal cord. One conclusion of this review is that robust and automatic segmentation is clinically relevant, as it would allow for longitudinal and group studies free from user bias as well as reproducible multicentric studies in large populations, thereby helping to further our understanding of the spinal cord pathophysiology and to develop new criteria for early detection of subclinical evolution for prognosis prediction and for patient management. Another conclusion is that at the present time, no single method adequately segments the cord and its substructure in all the cases encountered (abnormal intensities, loss of contrast, deformation of the cord, etc.). A combination of different approaches is thus advised for future developments, along with the introduction of probabilistic shape models. Maturation of standardized frameworks, multiplatform availability, inclusion

  7. 12 CFR 7.2023 - Reverse stock splits.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 12 Banks and Banking 1 2014-01-01 2014-01-01 false Reverse stock splits. 7.2023 Section 7.2023... Corporate Practices § 7.2023 Reverse stock splits. (a) Authority to engage in reverse stock splits. A national bank may engage in a reverse stock split if the transaction serves a legitimate corporate...

  8. 12 CFR 7.2023 - Reverse stock splits.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 12 Banks and Banking 1 2013-01-01 2013-01-01 false Reverse stock splits. 7.2023 Section 7.2023... Corporate Practices § 7.2023 Reverse stock splits. (a) Authority to engage in reverse stock splits. A national bank may engage in a reverse stock split if the transaction serves a legitimate corporate...

  9. 12 CFR 7.2023 - Reverse stock splits.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 12 Banks and Banking 1 2012-01-01 2012-01-01 false Reverse stock splits. 7.2023 Section 7.2023... Corporate Practices § 7.2023 Reverse stock splits. (a) Authority to engage in reverse stock splits. A national bank may engage in a reverse stock split if the transaction serves a legitimate corporate...

  10. Arteriovenous malformations in hereditary haemorrhagic telangiectasia: looking beyond ALK1-NOTCH interactions.

    PubMed

    Peacock, Hanna M; Caolo, Vincenza; Jones, Elizabeth A V

    2016-02-01

    Hereditary haemorrhagic telangiectasia (HHT) is characterized by the development of arteriovenous malformations--enlarged shunts allowing arterial flow to bypass capillaries and enter directly into veins. HHT is caused by mutations in ALK1 or Endoglin; however, the majority of arteriovenous malformations are idiopathic and arise spontaneously. Idiopathic arteriovenous malformations differ from those due to loss of ALK1 in terms of both location and disease progression. Furthermore, while arteriovenous malformations in HHT and Alk1 knockout models have decreased NOTCH signalling, some idiopathic arteriovenous malformations have increased NOTCH signalling. The pathogenesis of these lesions also differs, with loss of ALK1 causing expansion of the shunt through proliferation, and NOTCH gain of function inducing initial shunt enlargement by cellular hypertrophy. Hence, we propose that idiopathic arteriovenous malformations are distinct from those of HHT. In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT. A nuanced understanding of the precise molecular mechanisms underlying idiopathic and HHT-associated arteriovenous malformations will allow for development of targeted treatments for these lesions.

  11. Field guide to malformations of frogs and toads, with radiographic interpretations

    USGS Publications Warehouse

    Meteyer, Carol U.

    2000-01-01

    In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.

  12. The pathobiology of vascular malformations: insights from human and model organism genetics.

    PubMed

    Wetzel-Strong, Sarah E; Detter, Matthew R; Marchuk, Douglas A

    2017-01-01

    Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  13. Bleomycin sclerotherapy for lymphatic malformation after unsuccessful surgical excision: case report.

    PubMed

    Vlahovic, A; Gazikalovic, A; Adjic, O

    2015-10-01

    Lymphatic malformations (LMs) are benign cystic masses resulting from the abnormal development of lymphatic channels. Lymphatic malformations occur primarily in the head and neck region. Surgical excision of lymphatic malformation is followed by high rate of recurrence and a high risk of complications. Bleomycin is an established antineoplastic drug. It can be used as a sclerosing agent in vascular anomalies. We present a child who was unsuccessfully treated with four surgical resections, with peripheral palsy of facial nerve as complication. The lymphatic malformation was successfully treated in our institution with intralesional administration of bleomycin.

  14. Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

    PubMed

    Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

    2014-01-01

    Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

  15. Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

    PubMed Central

    Choi, Yeon-Chul; Yum, Mi-Sun; Kim, Min-Jee; Lee, Yun-Jung

    2016-01-01

    Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics. PMID:28018470

  16. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered.

  17. Airway response to sirolimus therapy for the treatment of complex pediatric lymphatic malformations.

    PubMed

    Alemi, A Sean; Rosbe, Kristina W; Chan, Dylan K; Meyer, Anna K

    2015-12-01

    Head and neck lymphatic malformations can create airway management challenges requiring tracheotomy. Sirolimus, an inhibitor of mammalian target of rapamycin (mTOR), may inhibit growth of lymphatic malformations. We describe two patients born with large lymphatic malformations with improved airway symptoms following sirolimus therapy. Patient #1 underwent tracheotomy and multi-modal therapy including sirolimus with reduction in airway involvement but regrowth after discontinuation of sirolimus. Patient #2 also experienced a significant response to sirolimus allowing for extubation and discharge without tracheotomy. Early initiation of sirolimus therapy should be considered as a means to avoid tracheotomy in complex head and neck lymphatic malformations.

  18. Spin splitting in 2D monochalcogenide semiconductors.

    PubMed

    Do, Dat T; Mahanti, Subhendra D; Lai, Chih Wei

    2015-11-24

    We report ab initio calculations of the spin splitting of the uppermost valence band (UVB) and the lowermost conduction band (LCB) in bulk and atomically thin GaS, GaSe, GaTe, and InSe. These layered monochalcogenides appear in four major polytypes depending on the stacking order, except for the monoclinic GaTe. Bulk and few-layer ε-and γ -type, and odd-number β-type GaS, GaSe, and InSe crystals are noncentrosymmetric. The spin splittings of the UVB and the LCB near the Γ-point in the Brillouin zone are finite, but still smaller than those in a zinc-blende semiconductor such as GaAs. On the other hand, the spin splitting is zero in centrosymmetric bulk and even-number few-layer β-type GaS, GaSe, and InSe, owing to the constraint of spatial inversion symmetry. By contrast, GaTe exhibits zero spin splitting because it is centrosymmetric down to a single layer. In these monochalcogenide semiconductors, the separation of the non-degenerate conduction and valence bands from adjacent bands results in the suppression of Elliot-Yafet spin relaxation mechanism. Therefore, the electron- and hole-spin relaxation times in these systems with zero or minimal spin splittings are expected to exceed those in GaAs when the D'yakonov-Perel' spin relaxation mechanism is also suppressed.

  19. Spin splitting in 2D monochalcogenide semiconductors

    PubMed Central

    Do, Dat T.; Mahanti, Subhendra D.; Lai, Chih Wei

    2015-01-01

    We report ab initio calculations of the spin splitting of the uppermost valence band (UVB) and the lowermost conduction band (LCB) in bulk and atomically thin GaS, GaSe, GaTe, and InSe. These layered monochalcogenides appear in four major polytypes depending on the stacking order, except for the monoclinic GaTe. Bulk and few-layer ε-and γ -type, and odd-number β-type GaS, GaSe, and InSe crystals are noncentrosymmetric. The spin splittings of the UVB and the LCB near the Γ-point in the Brillouin zone are finite, but still smaller than those in a zinc-blende semiconductor such as GaAs. On the other hand, the spin splitting is zero in centrosymmetric bulk and even-number few-layer β-type GaS, GaSe, and InSe, owing to the constraint of spatial inversion symmetry. By contrast, GaTe exhibits zero spin splitting because it is centrosymmetric down to a single layer. In these monochalcogenide semiconductors, the separation of the non-degenerate conduction and valence bands from adjacent bands results in the suppression of Elliot-Yafet spin relaxation mechanism. Therefore, the electron- and hole-spin relaxation times in these systems with zero or minimal spin splittings are expected to exceed those in GaAs when the D’yakonov-Perel’ spin relaxation mechanism is also suppressed. PMID:26596907

  20. Technical Skills Required in Split Liver Transplantation.

    PubMed

    Liu, Huanqiu; Li, Ruijun; Fu, Jinling; He, Qianyan; Li, Ji

    2016-07-01

    The number of liver grafts obtained from a cadaver can be greatly increased with the application of split liver transplantation. In the last 10 years, pediatric waiting list mortality has been reduced significantly with the use of this form of liver transplantation, which has 2 major forms. In its most commonly used form, the liver can be transplanted into 1 adult and 1 child by splitting it into a right extended and a left lateral graft. For adult and pediatric recipients, the results of this procedure are comparable to those of whole-organ techniques. In another form, 2 hemi-grafts are obtained by splitting the liver, which can be transplanted into a medium-sized adult (the right side) and a large child/small adult (the left side). The adult liver graft pool is expanded through the process of full right/full left splitting; but it is also a critical technique when one considers the knowledge required of the potential anatomic variations and the high technical skill level needed. In this review, we provide some basic insights into the technical and anatomical aspects of these 2 forms of split liver transplantation and present an updated summary of both forms.

  1. Spin splitting in 2D monochalcogenide semiconductors

    NASA Astrophysics Data System (ADS)

    Do, Dat T.; Mahanti, Subhendra D.; Lai, Chih Wei

    2015-11-01

    We report ab initio calculations of the spin splitting of the uppermost valence band (UVB) and the lowermost conduction band (LCB) in bulk and atomically thin GaS, GaSe, GaTe, and InSe. These layered monochalcogenides appear in four major polytypes depending on the stacking order, except for the monoclinic GaTe. Bulk and few-layer ε-and γ -type, and odd-number β-type GaS, GaSe, and InSe crystals are noncentrosymmetric. The spin splittings of the UVB and the LCB near the Γ-point in the Brillouin zone are finite, but still smaller than those in a zinc-blende semiconductor such as GaAs. On the other hand, the spin splitting is zero in centrosymmetric bulk and even-number few-layer β-type GaS, GaSe, and InSe, owing to the constraint of spatial inversion symmetry. By contrast, GaTe exhibits zero spin splitting because it is centrosymmetric down to a single layer. In these monochalcogenide semiconductors, the separation of the non-degenerate conduction and valence bands from adjacent bands results in the suppression of Elliot-Yafet spin relaxation mechanism. Therefore, the electron- and hole-spin relaxation times in these systems with zero or minimal spin splittings are expected to exceed those in GaAs when the D’yakonov-Perel’ spin relaxation mechanism is also suppressed.

  2. Conditions for a split diffusion flame

    SciTech Connect

    Hertzberg, J.R.

    1997-05-01

    An unusual phenomenon has been observed in a methane jet diffusion flame subjected to axial acoustic forcing. At specific excitation frequencies and amplitudes, the driven flame splits into a central jet and one or two side jets. The splitting is accompanied by a partial detachment of the flame from the nozzle exit, a shortening of the flame by a factor of 2, and a change from the common yellow color of soot radiation to a clear blue flame. Such a phenomenon may be useful for the control of soot production or product species. The splitting is intermittent in time, bifurcating between the split flame and an ordinary single jet diffusion flame. The experiment consists of an unconfined axisymmetric methane jet formed by a short length of 0.4 cm diameter pipe. The pipe is connected to a large plenum surrounding a bass reflex loudspeaker enclosure that provides the excitation. Conditions producing split and bifurcated flames are presented. The drive frequencies required to cause bifurcation correspond to the first two peaks in the system`s frequency response curve. Bifurcating behavior was observed at a wide range of flow rates, ranging from very small flames of Reynolds number 240 up to turbulent lift-off, at Re = 1,000, based on the inner pipe diameter. It was not sensitive to nozzle length, but the details of the nozzle tip, such as orifice or pipe geometry, can affect the frequency range.

  3. Sphingolipids in spinal cord injury

    PubMed Central

    Jones, Zachary B; Ren, Yi

    2016-01-01

    Spinal cord injury (SCI) is a debilitating condition that affects millions of individuals worldwide. Despite progress over the last few decades, the molecular mechanisms of secondary SCI that continue to occur days and weeks after the original trauma remain poorly understood. As a result, current therapies for SCI are only marginally effective. Sphingolipids, a diverse class of bioactive lipids, have been shown to regulate SCI repair and key secondary injury processes such as apoptosis, ischemia and inflammation. This review will discuss the numerous roles of sphingolipids and highlight the potential of sphingolipid-targeted therapies for SCI. PMID:27570580

  4. Vocal cord dysfunction during wartime.

    PubMed

    Craig, T; Sitz, K; Squire, E; Smith, L; Carpenter, G

    1992-11-01

    Vocal cord dysfunction (VCD) often masquerades as asthma. The diagnosis is rarely suspected, but should be considered in cases of asthma that present atypically or that fail to respond to standard therapy. The frequency of VCD would be expected to increase during times of stress, including periods of war, since it is thought to be a conversion reaction. A high level of suspicion for VCD is essential to make the diagnosis so as to avoid unnecessary, potentially toxic medications and to direct the patient to prompt psychiatric care, which along with speech therapy, is the cornerstone of care.

  5. Guidelines for patient-specific jawline definition with titanium implants in esthetic, deformity, and malformation surgery

    PubMed Central

    Mommaerts, Maurice Yves

    2016-01-01

    Context: Asymmetry and unfavorable esthetics of the jawline have become possible to correct in three dimensions using computer aided design and computer aided manufacturing. Aims: The aim of this study was to provide esthetic, technical, and operative guidelines for mandibular angle and border augmentation using patient-specific titanium implants made by selective laser melting. Settings and Design: University hospital - prospective registry. Subjects and Methods: Twelve patients and 17 implantation sites were documented and prospectively registered. Malformational, deformational, and purely esthetic indications were encountered. Statistical Analysis Used: Descriptive. Results: Patient satisfaction was high, probably because the patients had input into the planned dimensions and shape. A serious infection with implant removal occurred in one patient who had six previous surgeries at the same sites. Technical and surgical guidelines were developed including splitting implants into two segments when the mental nerve was at risk, using a three-dimensional (3D) puzzle connection, providing at least two screw holes per segment, using scaffolds at the bony contact side, using a “satin” finish at the periosteal side, referring to anatomical structures where possible, making provisions for transbuccal and transoral fixation, using a high vestibular incision, and using a double-layer closure. Esthetic guidelines are discussed but could not be upgraded. Conclusions: Mirroring techniques and 3D print accuracy up to 0.1 mm allow precise planning of jaw angle implants. Patients are pleased when given preoperative renderings for their consideration. Infections can be managed using technical and operative recommendations and careful patient selection. PMID:28299273

  6. Neonatal umbilical cord myiasis in New Jersey.

    PubMed

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

    2014-09-01

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

  7. Family-directed umbilical cord blood banking

    PubMed Central

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

    2011-01-01

    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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  9. Family-directed umbilical cord blood banking.

    PubMed

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

    2011-11-01

    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.

  10. Nutrition of People with Spinal Cord Injuries

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  11. Diagnosis and treatment of communicating bronchopulmonary foregut malformation

    PubMed Central

    Ren, Hongxia; Duan, Liqiong; Zhao, Baohong; Wu, Xiaoxia; Zhang, Hongyi; Liu, Caixia

    2017-01-01

    Abstract Rationale: Communicating bronchopulmonary foregut malformation (CBPFM) is a rare congenital malformation involving both the digestive and respiratory systems. To our best knowledge, most cases of CBPFM reported in the literature were in infancy or adulthood and CBPFM in infantile is even rarer with a high case-fatality rate partly due to misdiagnosis. Patient concerns: We presented 2 cases of neonatal CBPFM. A 11-hour male newborn was admitted because of moaning for 7 hours, and a 1-day male newborn was referred to us with profuse foams, choking on breast-milk feeding and facial cyanosis. Diagnoses: With the assistance of upper gastrointestinal tract imaging and contrast-enhanced chest computed tomography (CT), the diagnosis was established according to the most recent diagnostic criteria. Interventions: The case one recieved a lower left pneumonectomy and surgical repair of esophageal fistula. The case two was performed with a surgical repair of esophageal atresia and esophageal tracheal fistula firstly, and then also received a repair of communicating bronchopulmonary foregut malformation two weeks after the first operation. Outcomes: The case one was cured and discharged 2 weeks after admission. Unfortunately the case two died from respiratory failure. Lessons: Pediatric surgeons should therefore be aware that type I CBPMF is rare and preoperative diagnosis is usually difficult. Maldiagnosis is uncommon because clinicians often focus their attention on esophageal atresia and neglect pulmonary abnormalities. Other than upper gastrointestinal tract radiography and CT scan, bronchoscopy should be considered in pediatric patients with esophageal atresia complicated with pulmonary abnormalities, knowing that bronchoscopy may help confirm the diagnosis and select surgical strategies. PMID:28296740

  12. Resonance splitting in gyrotropic ring resonators.

    PubMed

    Jalas, Dirk; Petrov, Alexander; Krause, Michael; Hampe, Jan; Eich, Manfred

    2010-10-15

    We present the theoretical concept of an optical isolator based on resonance splitting in a silicon ring resonator covered with a magneto-optical polymer cladding. For this task, a perturbation method is derived for the modes in the cylindrical coordinate system. A polymer magneto-optical cladding causing a 0.01 amplitude of the off-diagonal element of the dielectric tensor is assumed. It is shown that the derived resonance splitting of the clockwise and counterclockwise modes increases for smaller ring radii. For the ring with a radius of approximately 1.5μm, a 29GHz splitting is demonstrated. An integrated optical isolator with a 10μm geometrical footprint is proposed based on a critically coupled ring resonator.

  13. Notes on the genesis of pathological splitting.

    PubMed

    Ross, J M; Dunn, P B

    1980-01-01

    In this preliminary paper, we have concentrated on the reverberating system that may develop as parents respond to the rapprochement toddler's ambitendent communications of split objects and to some of the ways in which these interactions may become reactivated later in borderline transference phenomena. We have hypothesized that such splits in mental content underlie communication of a fixed, binary and dualistic nature, such as communication that characterizes the so-called double bind. We have further suggested that the double bind, when understood in the context of object relations, usefully highlights the process whereby parent and then therapist become unwitting participants in the toddler's or borderline's world of split-off part objects. Finally, we have touched on certain therapeutic implications, emphasizing the developmental impact of interpreting borderline transference phenomena.

  14. Multiple Spectral Splits of Supernova Neutrinos

    SciTech Connect

    Dasgupta, Basudeb; Raffelt, Georg G.; Dighe, Amol; Smirnov, Alexei Yu.

    2009-07-31

    Collective oscillations of supernova neutrinos swap the spectra f{sub n}u{sub e}(E) and f{sub n}u{sub e}(E) with those of another flavor in certain energy intervals bounded by sharp spectral splits. This phenomenon is far more general than previously appreciated: typically one finds one or more swaps and accompanying splits in the nu and nu channels for both inverted and normal neutrino mass hierarchies. Depending on an instability condition, swaps develop around spectral crossings (energies where f{sub n}u{sub e}=f{sub n}u{sub x}, f{sub n}u{sub e}=f{sub n}u{sub x} as well as E->infinity where all fluxes vanish), and the widths of swaps are determined by the spectra and fluxes. Washout by multiangle decoherence varies across the spectrum and splits can survive as sharp spectral features.

  15. Multiple spectral splits of supernova neutrinos.

    PubMed

    Dasgupta, Basudeb; Dighe, Amol; Raffelt, Georg G; Smirnov, Alexei Yu

    2009-07-31

    Collective oscillations of supernova neutrinos swap the spectra f(nu(e))(E) and f(nu[over ](e))(E) with those of another flavor in certain energy intervals bounded by sharp spectral splits. This phenomenon is far more general than previously appreciated: typically one finds one or more swaps and accompanying splits in the nu and nu[over ] channels for both inverted and normal neutrino mass hierarchies. Depending on an instability condition, swaps develop around spectral crossings (energies where f(nu(e))=f(nu(x)), f(nu[over ](e))=f(nu[over ](x)) as well as E-->infinity where all fluxes vanish), and the widths of swaps are determined by the spectra and fluxes. Washout by multiangle decoherence varies across the spectrum and splits can survive as sharp spectral features.

  16. Part 1: recognizing neonatal spinal cord injury.

    PubMed

    Brand, M Colleen

    2006-02-01

    Neonatal spinal cord injury can occur in utero, as well as after either a difficult delivery or a nontraumatic delivery. Spinal cord injury can also be related to invasive nursery procedures or underlying neonatal pathology. Early clinical signs of spinal cord injury that has occurred in utero or at delivery includes severe respiratory compromise and profound hypotonia. Knowledge of risk factors and awareness of symptoms is required for early recognition and appropriate treatment. This article reviews the embryological development of the spinal column highlighting mechanisms of injury and identifying underlying factors that increase the risk of spinal cord injury in newborns. Signs and symptoms of injury, cervical spine immobilization, and the differential diagnosis are discussed. Nursing implications, general prognosis, and research in spinal cord injury are provided.

  17. Spinal cord ischemia secondary to hypovolemic shock.

    PubMed

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

    2014-12-01

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

  18. Galactorrhea: a complication of spinal cord injury.

    PubMed

    Yarkony, G M; Novick, A K; Roth, E J; Kirschner, K L; Rayner, S; Betts, H B

    1992-09-01

    Galactorrhea, a secretion of milk or milk-like products from the breast in the absence of parturition, has been reported to occur in women with spinal cord injuries in association with amenorrhea and hyperprolactinemia. Four cases of galactorrhea in association with spinal cord injury are reported. Galactorrhea developed in four spinal cord injured women who had thoracic paraplegia. The onset of galactorrhea was from one month to five months after injury. Although the onset of galactorrhea may have been related to prescribed medications in all four cases, insufficient data exist to draw conclusions. The three women whose galactorrhea persisted declined treatment and galactorrhea continuing for more than two years in one instance. We conclude that galactorrhea with or without amenorrhea may develop after a spinal cord injury and that spinal cord injured women may have an enhanced sensitivity to medication-induced galactorrhea.

  19. [Congenital unilateral muscular hyperplasia of the hand - a rare malformation].

    PubMed

    Pillukat, T; Lanz, U

    2004-01-01

    This is a report on eight cases of a rare congenital malformation in the upper extremity, consisting of a unilateral muscular hyperplasia. In addition to the hand, all segments of the upper extremity may be affected. The hyperplasia is always unilateral, preferably on the right hand side, in combination with accessory muscles. Hereditary dependence or association with other malformations has not been observed. Six of eight patients were male. Shoulder and arm function were normal in all cases. Ulnar drift of the fingers in the metacarpophalangeal joints (six of eight patients), flexion contractures of the metacarpophalangeal joints (six of eight patients) and extension contractures of the wrist (three of eight patients) to various degrees were seen. A prominence of the second and third metacarpal head with an enlarged space between them gave the affected hands a very typical appearance (six of eight patients). Deformities and functional limitations requiring surgical treatment were present in six patients. In all cases, accessory muscles were found intraoperatively and resected. The macroscopic and microscopic appearance of the muscle specimen did not differ from normal muscular tissue. In all cases, additional procedures were necessary to improve the overall function. Nevertheless, the reconstructive efforts did not lead to an entirely normal hand function or appearance. The malformation we describe can clearly be distinguished from other malformations such as arthrogryposis multiplex congenita, Freeman-Sheldon syndrome or macrodactyly. Up to now, only two other reports were found in the literature showing characteristics similar to those in our own cases. Four similar cases were observed by Benatar. From a pathomechanical point of view, a disturbance in the muscular balance seems to cause the deformities and functional limitations. This imbalance could be related to accessory muscles which are not opposed by defined antagonists or to an unbalanced hyperplasia of

  20. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  1. Vasospasm after intraventricular hemorrhage caused by arteriovenous malformation

    PubMed Central

    Tseng, Wei-Lung; Tsai, Yi-Hsin

    2015-01-01

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

  2. Late presentation of congenital cystic adenomatoid malformation of the lung

    SciTech Connect

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

    1984-06-01

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

  3. Selection of Endovascular Approach of Vein of Galen Aneurysmal Malformation

    PubMed Central

    Ito, O.; Goto, K.; Ogata, N.; Utsunomiya, H.; Sato, S.; Fukumura, A.

    2001-01-01

    Summary Vein of Galen aneurysmal malformation (VGAM) is one of the most difficult intracranial vascular lesions because this disease consists of extremely high flow shunts and affects infants and small children. Thanks to the development of various diagnostic modalities, early diagnosis became possible allowing us to prepare appropriately according to the patients' general and neurological conditions. Recent improvements of endovascular techniques and materials enabled both transarterial and transvenous approaches even to the newborn infants, widening therapeutic windows. In this article, we discuss the selection of endovascular approaches based upon angioarchitecture of VGAM presenting four representative cases from our file. PMID:20663400

  4. Imaging features of an intraosseous arteriovenous malformation in the tibia

    PubMed Central

    Wang, Hong-Hau; Yeh, Tsu-Te; Lin, Yu-Chun; Huang, Guo-Shu

    2015-01-01

    Primary intraosseous arteriovenous malformations (AVMs) are rare and have only been occasionally reported. We herein report a histologically proven case of primary intraosseous AVM in the tibia, which mimicked a fibrous tumour on radiography. This presentation carries a risk of triggering acute large haemorrhage through unnecessary biopsy. In intraosseous AVM, the magnetic resonance (MR) imaging features typical of a soft tissue AVM are absent, making diagnosis difficult. In this report, peculiar MR features in the presence of a connecting vessel between the normal deep venous system of the lower extremity and the tumour provide a clue for the early diagnosis of primary intraosseous AVM. PMID:25715860

  5. Anorectal malformation and Down's syndrome in monozygotic twins.

    PubMed

    de Buys Roessingh, Anthony S; Mueller, Claudia; Wiesenauer, Chad; Bensoussan, Arié L; Beaunoyer, Mona

    2009-02-01

    Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental. We describe here a very rare case of monozygotic twins born with the association of ARM and Down's syndrome.

  6. Semilobar Holoprosencephaly Associated with Multiple Malformations in a Foal.

    PubMed

    Pintore, M D; Cantile, C

    2016-04-01

    A full-term male foal born in a farm holidays in Maremma (Tuscany, Italy) was euthanized shortly after birth due to the presence of several malformations. The rostral maxilla and the nasal septum were deviated to the right (wry nose), and a severe cervico-thoracic scoliosis and anus atresia were evident. Necropsy revealed ileum atresia and agenesis of the right kidney. The brain showed an incomplete separation of the hemispheres of the rostral third of the forebrain and the olfactory bulbs and tracts were absent (olfactory aplasia). A diagnosis of semilobar holoprosencephaly (HPE) was achieved. This is the first case of semilobar HPE associated with other organ anomalies in horses.

  7. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  8. Eruption of blood: Arteriovenous malformation of the penile urethra

    PubMed Central

    White, Joshua T.; Baverstock, Richard J.

    2017-01-01

    While arteriovenous malformations (AVMs) are a common congenital or post-traumatic abnormality, male genital AVMs are rare and have been described in the scrotum or penis in pediatric patients.1,2 We describe a 34-year-old male presenting with recurrent spontaneous penile urethral bleeding found to have an AVM of the penile urethra. While angiography has traditionally been helpful, magnetic resonance imaging (MRI) can aid in the diagnosis and characterization of these lesions.3 Each case of male genital AVM provides a unique challenge to manage depending on the presenting complaint, as there are no guidelines to direct treatment.4 PMID:28163810

  9. Uterine Arteriovenous Malformation with Sudden Heavy Vaginal Hemmorhage

    PubMed Central

    Selby, Sarah T.; Haughey, Marianne

    2013-01-01

    Dysfunctional uterine bleeding (DUB) is a common presentation in the emergency department and has a wide differential. Most presentations of DUB are in hemodynamically stable patients and can be evaluated as an outpatient. Uterine arteriovenous malformation (AVM) is one presentation that can result in a life-threatening medical emergency with unexpected sudden and massive vaginal bleeding. We describe a case of a 24-year-old female with sudden heavy vaginal bleeding requiring a blood transfusion, ultrasound evidence of uterine AVM, and a treatment method of expectant management using an intrauterine device in an attempt to preserve fertility. PMID:24106528

  10. A cluster of hypoplastic left heart malformation in Baltimore, Maryland.

    PubMed

    Kuehl, K S; Loffredo, C A

    2006-01-01

    Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and aortic stenosis. In a previous population-based study in the Baltimore-Washington region, these malformations were associated with parental reports of occupational or leisure solvent exposure, overt diabetes, and family history of CCVM in first-degree relatives. Spatial analysis in this well-characterized study population may augment self-reported data by revealing additional associations with potential environmental risk factors. We used spatial analysis to identify clusters of HLH as a group. The study population included all live-born cases of hypoplastic left heart syndrome diagnosed in the first year of life between 1981 and 1989 and a random sample of unaffected infant controls matched by year and hospital of birth. The nested case-control cohort in this spatial analysis included 77 HLH cases and 1894 controls in Maryland and the District of Columbia. Nonparametric and regression analyses included personal variables from the interview data set as well as spatial variables. A region of Baltimore was identified that contained HLH at twice the expected frequency based on the distribution of population younger than 5 years of age. The region included 30 of 77 geocoded cases of HLH in the cohort and is significant by spatial scanning at p = 0.056. Within this region, male cases of HLH were disproportionately present compared to females. This cluster is in a region of Baltimore with industrial release of solvents, dioxin, and polychlorinated biphenyls in air. Outside the cluster, HLH is associated with family history of CCVM in a first-degree relative, maternal exposure to miscellaneous solvents, paternal anesthesia, maternal art painting, aspirin ingestion, and maternal diabetes. Inside the cluster, father's painting and

  11. Treatment of vascular malformation of the gastrointestinal tract

    NASA Astrophysics Data System (ADS)

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

    2000-06-01

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

  12. Renal arteriovenous malformation: an unusual cause of recurrent haematuria.

    PubMed

    Ali, Mazhar; Aziz, Wajahat; Abbas, Farhat

    2013-07-17

    A 54-year-old woman presented with gross painless haematuria. Initial workup showed no abnormality except mild hydronephrosis on CT scan. Cystoscopy and retrograde pyelography did not find any gross lesion and her urine cytology was also negative. She had recurrent haematuria so her CT was reviewed with the radiologist with clinical suspicion of arteriovenous malformation (AVM) which was suggested by relatively increased contrast density in the hemiazygous vein and renal vein in the arterial phase. She underwent angioembiolisation of left renal AVM after which her haematuria settled.

  13. Extensive Renal Arteriovenous Malformations Treated by Transcatheter Arterial Embolization

    PubMed Central

    Tajirika, Hironao; Yoshigi, Jun; Kobayashi, Kazuki

    2017-01-01

    An 84-year-old woman was referred to our department due to gross hematuria. Enhanced computed tomography revealed early enhancement of the right renal vein and multiple tortuous vessels around the right renal hilus, part of which had invaded into the renal parenchyma and renal calix. We diagnosed her with arteriovenous malformations (AVMs) and performed transcatheter arterial embolization (TAE). Angiography showed extensive and complex AVMs located in the central and peripheral areas of her kidney. After TAE, the hematuria resolved and she became hemodynamically stable. PMID:28326220

  14. Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis.

    PubMed

    Fischer, Andreas; Zalvide, Juan; Faurobert, Eva; Albiges-Rizo, Corinne; Tournier-Lasserve, Elisabeth

    2013-05-01

    Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.

  15. Rabi splitting enhancement in semiconductor microcavities

    NASA Astrophysics Data System (ADS)

    Dickerson, James Henry, II

    The physics of the two-level atom has been the basis of research in atomic physics for much of the past several decades. One of the great successes of semiconductor physics has been its capability to mimic the phenomena of other physical systems. Many of the discoveries in atomic physics have prompted studies of the coupling between two-level atom-like structures and photonic system in semiconductor physics. Much of that work has investigated the optics of the energy exchange between atom-like systems and the electromagnetic field mode of the enclosing cavity. Since many applications of microcavities are governed by the control of the spontaneous emission from the structure, command of the emission relies on control of the coupling between the photonic and the excitonic modes of the system. When the energies of the interacting microcavity states are in resonance, the resulting degeneracy yields an energy split between the coincident modes. This energy split produces two branches of the resonant mixed states, which are called polaritons. The energy separation between the mixed state branches is called the vacuum Rabi splitting, Delta. The magnitude of the Rabi splitting is indicative of the coupling strength of the polariton modes. One of the major pursuits of this field has been to augment the control of the coupling strength between the cavity polariton modes. Comprehensive control over the polariton states, be it the modulation of the polariton energies or the suppression of one of the modes, is a key component in the development of microcavity devices. The goal of my thesis research was to discover a simple means to achieve control over the coupling between the photonic and excitonic modes of a microcavity. This entailed the parametric tuning of the Rabi splitting between the coupled modes of the microcavity. Furthermore, we hoped to attain the maximum possible Rabi splitting observed in GaAs/AlxGa1- xAs microcavities with quantum oscillators located only within

  16. The splitting of Comet Halley 1986

    NASA Astrophysics Data System (ADS)

    Chen, Dao-Han; Zheng, Jia-Quing; Liu, Zong-Li; Yan, Lin-Shan; Lui, Lin-Zhong; Zhou, Xing-Hai; Wu, Zhi-Xian; Gilmore, A. C.

    1987-09-01

    Nine photographs taken on 25 Mar., 1986 show that the nucleus of Comet Halley split into 2 widely separated nuclei. The separated projected distance on the plane of the sky is 5000 km. The principal nucleus and the secondary nucleus exhibit their own comas. The prominant jet ejected from the companion curves up to a height of several thousand kilometers and the secondary nucleus must fade out of sight within only a few days. In combination with the results of photoelectric observations it seems that this event of splitting coincides with an outburst. Photographs were digitized, and the image enhancement is described.

  17. Fermion localization on a split brane

    SciTech Connect

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

    2011-05-15

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

  18. Parallel programming in Split-C

    SciTech Connect

    Culler, D.E.; Dusseau, A.; Goldstein, S.C.; Krishnamurthy, A.; Lumetta, S.; Eicken, T. von; Yelick, K.

    1993-12-31

    The authors introduce the Split-C language, a parallel extension of C intended for high performance programming on distributed memory multiprocessors, and demonstrate the use of the language in optimizing parallel programs. Split-C provides a global address space with a clear concept of locality and unusual assignment operators. These are used as tools to reduce the frequency and cost of remote access. The language allows a mixture of shared memory, message passing, and data parallel programming styles while providing efficient access to the underlying machine. They demonstrate the basic language concepts using regular and irregular parallel programs and give performance results for various stages of program optimization.

  19. Accuracy of tablet splitting: Comparison study between hand splitting and tablet cutter

    PubMed Central

    Habib, Walid A.; Alanizi, Abdulaziz S.; Abdelhamid, Magdi M.; Alanizi, Fars K.

    2013-01-01

    Background Tablet splitting is often used in pharmacy practice to adjust the administered doses. It is also used as a method of reducing medication costs. Objective To investigate the accuracy of tablet splitting by comparing hand splitting vs. a tablet cutter for a low dose drug tablet. Methods Salbutamol tablets (4 mg) were chosen as low dose tablets. A randomly selected equal number of tablets were split by hand and a tablet cutter, and the remaining tablets were kept whole. Weight variation and drug content were analysed for salbutamol in 0.1 N HCl using a validated spectrophotometric method. The percentages by which each whole tablet’s or half-tablet’s drug content and weight difference from sample mean values were compared with USP specification ranges for drug content. The %RSD was also calculated in order to determine whether the drugs met USP specification for %RSD. The tablets and half tablets were scanned using electron microscopy to show any visual differences arising from splitting. Results 27.5% of samples differed from sample mean values by a percentage that fell outside of USP specification for weight, of which 15% from the tablet cutter and 25% from those split by hand fell outside the specifications. All whole tablets and half tablets met the USP specifications for drug content but the variation of content between the two halves reached 21.3% of total content in case of hand splitting, and 7.13% only for the tablet cutter. The %RSDs for drug content and weight met the USP specification for whole salbutamol tablets and the half tablets which were split by tablet cutter. The halves which were split by hand fell outside the specification for %RSD (drug content = 6.43%, weight = 8.33%). The differences were visually clear in the electron microscope scans. Conclusion Drug content variation in half-tablets appeared to be attributable to weight variation occurring during the splitting process. This could have serious clinical consequences for

  20. Rehabilitation of spinal cord injuries

    PubMed Central

    Nas, Kemal; Yazmalar, Levent; Şah, Volkan; Aydın, Abdulkadir; Öneş, Kadriye

    2015-01-01

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