Sample records for paraplegia

  1. Hereditary Spastic Paraplegia

    MedlinePLUS

    ... of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis ... should lead to ways to prevent, treat, and cure HSP. NIH Patient Recruitment for Hereditary Spastic Paraplegia ...

  2. Vertebral hydatidosis and paraplegia.

    PubMed

    Karray, S; Zlitni, M; Fowles, J V; Zouari, O; Slimane, N; Kassab, M T; Rosset, P

    1990-01-01

    We report the management of two children and 11 adults with paraplegia secondary to vertebral hydatidosis. Destruction of pedicles, posterior vertebral elements and discs as well as the vertebral bodies was common and all six patients with thoracic disease had involvement of adjacent ribs. The 13 patients had a total of 42 major surgical procedures; two patients died from postoperative complications and four from complications of the disease and paraplegia. All eight patients initially treated by laminectomy or anterior decompression alone relapsed within two years and seven required further surgery. Circumferential decompression and grafting gave the best results, six of nine patients being in remission an average of three years and six months later. The prognosis for such patients is poor; remission is the aim, rather than cure. Anthelminthic drugs may improve the prognosis, but radical surgery is likely to remain the keystone of treatment in the foreseeable future. PMID:2298801

  3. Genetics Home Reference: Spastic paraplegia type 2

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 2 On this ... type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

  4. Genetics Home Reference: Spastic paraplegia type 8

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 8 On this ... type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

  5. Genetics Home Reference: Spastic paraplegia type 11

    MedlinePLUS

    ... features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), ... system ; neuropathy ; nystagmus ; paraplegia ; peripheral ; peripheral nervous system ; pes cavus ; prevalence ; protein ; recessive ; scoliosis ; sensory cells ; sensory ...

  6. Genetics Home Reference: Spastic paraplegia type 3A

    MedlinePLUS

    ... peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia ... mutation ; nervous system ; neuropathy ; paraplegia ; peripheral ; peripheral neuropathy ; pes cavus ; prevalence ; protein ; scoliosis ; spasticity ; voluntary muscle ; wasting ...

  7. Spinal cord potentials in traumatic paraplegia and quadriplegia

    Microsoft Academic Search

    E M Sedgwick; E el-Negamy; H Frankel

    1980-01-01

    Cortical, cervical and lumbar somatosensory evoked potentials were recorded following median and tibial nerve stimulation in patients with traumatic paraplegia and quadriplegia. The isolated cord was able to produce normal potentials even during spinal shock if the vertical extent of the lesion did not involve the generator mechanisms. The cervical potentials showed subtle changes in paraplegia at Th5 levels and

  8. Paraplegia due to Acute Aortic Coarctation and Occlusion

    PubMed Central

    Park, Chang-Bum; Kim, Min-Ki; Kim, Sang-Hyun

    2014-01-01

    Coarctation and occlusion of the aorta is a rare condition that typically presents with hypertension or cardiac failure. However, neuropathy or myelopathy may be the presenting features of the condition when an intraspinal subarachnoid hemorrhage has compressed the spinal cord causing ischemia. We report two cases of middle-aged males who developed acute non-traumatic paraplegia. Undiagnosed congenital abnormalities, such as aortic coarctation and occlusion, should be considered for patients presenting with nontraumatic paraplegia in the absence of other identifiable causes. Our cases suggest that spinal cord ischemia resulting from acute spinal subarachnoid hemorrhage and can cause paraplegia, and that clinicians must carefully examine patients presenting with nontraumatic paraplegia because misdiagnosis can delay initiation of the appropriate treatment. PMID:24851152

  9. Burkitt's lymphoma: an unusual cause of childhood paraplegia

    Microsoft Academic Search

    Mehmet Turgut; O. Ekin Özcan; Aykut Erbengi

    1991-01-01

    In this paper we present two paraspinal Burkitt's lymphomas, with paraplegia. This entity is very rare in our country. In the evaluation of a paraplegic child, we believe that Burkitt's lymphoma should always be kept in mind.

  10. Cobb syndrome: A rare cause of paraplegia.

    PubMed

    Pal, Partha; Ray, Sayantan; Chakraborty, Sumit; Dey, Subhasish; Talukdar, Arunansu

    2015-07-01

    Cobb syndrome is an exceedingly rare clinical condition defined by the presence of a vascular skin nevus and an angioma in the spinal canal at the same metamere. We report the case of a 14-year-old boy who presented with sudden onset paraplegia. Physical examination showed port-wine stains over buttock and thigh. Magnetic resonance (MR) angiogram of the dorso-lumbar spine revealed a large arteriovenous malformation (AVM) at D11-D12 to L2-L3 levels. These concurrent findings led to the diagnosis of Cobb's syndrome. The patient received orally administered prednisolone therapy and underwent endovascular embolization of spinal angioma. Cobb's syndrome is a rare disease entity and literature search revealed only a few case reports and series mentioning this condition to date. The importance lies in the recognition that cutaneous vascular lesions may clue to an associated spinal cord angioma or AVM that may lead to weakness or paralysis. PMID:26130930

  11. Psychogenic paraplegia in a patient with normal electrophysiologic findings

    Microsoft Academic Search

    SS Haghighi; S Meyer

    2001-01-01

    Study design: A case report of psychogenic paraplegia following a motor vehicle accident was clinically diagnosed using median (MN) and posterior tibial nerves (PTN) somatosensory evoked potentials (SSEPs).Objective: To report an unusual case of paraplegia in spite of normal electrophysiological and non-compromising radiographic spine findings.Summary of background data: Conversion disorder with motor system symptoms or deficit is a subtype which

  12. Spinal Arteriovenous Fistula with Progressive Paraplegia after Spinal Anaesthesia

    PubMed Central

    Argyrakis, Nikolaos; Matis, Georgios K.; Mpata-Tshibemba, Stephanie

    2014-01-01

    A case of an iatrogenic spinal arteriovenous fistula with progressive paraplegia in a young woman is reported. The fistula was eventually created after repetitive lumbar punctures performed in the process of spinal anaesthesia. Her symptoms were progressed to paraplegia over a period of 2 years. The digital subtraction angiography demonstrated a single-hole fistula, involving the anterior spinal artery and vein. The lesion was occluded by embolization with immediate improvement. The potential mechanism is discussed. PMID:24653807

  13. Migrated Disc at Cervicothoracic Junction Presenting as Acute Paraplegia

    PubMed Central

    Mahore, Amit; Agarwal, Monit; Tikeykar, Vishakha

    2015-01-01

    Herein, we report on an inferior migration of an intervertebral disc C6-7 to the cervicothoracic junction manifesting as acute paraplegia. The patient showed a remarkable recovery after the surgery. The diagnostic dilemma and management difficulties of such an entity are briefly discussed.

  14. Manifesting heterozygosity in sex-linked spastic paraplegia?

    Microsoft Academic Search

    I D Young; I F Pye; J R Moore

    1984-01-01

    An unusual form of hereditary spastic paraplegia is described. Affected females have a late-onset slowly progressive spastic paraparesis. Affected males show oligophrenia with a rapidly progressive spastic quadriplegia. The mode of inheritance is consistent with sex-linkage, with partial manifestation in female carriers.

  15. Dalfampridine in hereditary spastic paraplegia: a prospective, open study.

    PubMed

    Béreau, Matthieu; Anheim, Mathieu; Chanson, Jean-Baptiste; Tio, Grégory; Echaniz-Laguna, Andoni; Depienne, Christel; Collongues, Nicolas; de Sèze, Jérôme

    2015-05-01

    Our aim was to support the use of dalfampridine as a treatment for patients affected with hereditary spastic paraplegia (HSP). We performed a prospective, uncontrolled, proof of concept, open trial. We included 12 HSP patients defining the total group (TG) who received dalfampridine 10 mg twice daily for 2 weeks. Efficacy assessment was based on walking ability improvement. The Timed-25-Foot Walk Test, the Spastic Paraplegia Rating Scale (SPRS), and the 12-item Multiple Sclerosis Walking Scale (MSWS-12) were performed before and after treatment. Safety assessment was based on adverse events occurrence. A significant improvement in SPRS (p = 0.0195) and MSWS-12 (p = 0.0429) was noted after treatment in the TG. No serious adverse events were noted. This interventional study provides encouraging results supporting the use of dalfampridine in HSP. PMID:25808501

  16. Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency.

    PubMed

    Tabarki, Brahim; Yacoub, Moncef; Tlili, Kalthoum; Trabelsi, Anouar; Dogui, Mohamed; Essoussi, Ahmed S

    2003-02-01

    We report two siblings with purine nucleoside phosphorylase deficiency revealed by isolated spastic paraplegia, whereas symptoms of immune deficiency did not become apparent until 3 years of age. As the concurrence of immunodeficiency and neurologic problems strongly suggests the diagnosis of purine nucleoside phosphorylase deficiency, special attention should be paid to counts of lymphocytes in any infant with spastic paraplegia. PMID:12693783

  17. Familial Spastic Paraplegia as the Presenting Manifestation in Patients With Purine Nucleoside Phosphorylase Deficiency

    Microsoft Academic Search

    Brahim Tabarki; Moncef Yacoub; Kalthoum Tlili; Anouar Trabelsi; Mohamed Dogui; Ahmed S. Essoussi

    2003-01-01

    We report two siblings with purine nucleoside phosphorylase deficiency revealed by isolated spastic paraplegia, whereas symptoms of immune deficiency did not become apparent until 3 years of age. As the concurrence of immunodeficiency and neurologic problems strongly suggests the diagnosis of purine nucleoside phosphorylase deficiency, special attention should be paid to counts of lymphocytes in any infant with spastic paraplegia.

  18. The role of sensory and motor evoked potentials in the prognosis of Pott's paraplegia

    Microsoft Academic Search

    U. K. Misra; J. Kalita

    2004-01-01

    Objective: In view of paucity of evoked potential changes in Pott's paraplegia, it is proposed to evaluate the role of motor and somatosensory evoked potentials in predicting the outcome.Methods: Consecutive patients with Pott's paraplegia during 1993–2003 were subjected to detailed clinical, radiological and evoked potential study. The latter comprised of tibial somatosensory evoked potential (SEP) and motor evoked potential (MEP)

  19. Ventilatory and Respiratory Muscle Responses to Hypercapnia in Patients with Paraplegia

    Microsoft Academic Search

    MASSIMO GORINI; ANTONIO CORRADO; SERGIO AITO; ROBERTA GINANNI; GIUSEPPE VILLELLA; GIACOMO LUCCHESI; EDUARDO DE PAOLA

    To evaluate ventilatory and respiratory muscle responses to hyper- capnia in patients with paraplegia with paralysis of abdominal muscles, we studied seven patients with complete transection of the midthoracic cord (Th6-Th7) and six normal subjects. Minute ventilation ( E ) and mean inspiratory flow responses to hypercap- nia were similar in normal subjects and patients with paraplegia, but in the

  20. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

    PubMed

    Boukhris, Amir; Schule, Rebecca; Loureiro, José L; Lourenço, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andrés; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frédéric; Rouleau, Guy A; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni

    2013-07-11

    Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes ?-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis. PMID:23746551

  1. Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

    PubMed Central

    Boukhris, Amir; Schule, Rebecca; Loureiro, José L.; Lourenço, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A.; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andrés; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T.; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frédéric; Rouleau, Guy A.; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni

    2013-01-01

    Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes ?-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis. PMID:23746551

  2. Post-myelography paraplegia in a woman with thoracic stenosis

    PubMed Central

    Soliman, Hesham M.; Arnold, Paul M.; Madarang, Ernest J.

    2013-01-01

    Context Myelography is a commonly performed diagnostic test used to assess spine pathology. Complications are unusual and usually self-limited. We report a rare case of transient paraplegia following myelography in a woman with thoracic stenosis. Findings A 51-year-old woman, 20 months status post-thoracic laminectomy, presented with progressive lower extremity weakness. The patient underwent myelography and post-myelography CT, and became paraplegic after the lumbar injection. Intravenous steroids were administered and a lumbar puncture was performed. The patient's neurologic function returned to baseline over the next 96 hours. Conclusion and clinical relevance Myelography is generally a safe procedure, but on rare occasions serious complications can arise. Therapeutic maneuvers may be helpful in reversing neurologic deficit. PMID:23809597

  3. Evaluation of activity monitors in manual wheelchair users with paraplegia

    PubMed Central

    Hiremath, Shivayogi V.; Ding, Dan

    2011-01-01

    Objective The aim of this study was to evaluate the performance of SenseWear® (SW) and RT3 activity monitors (AMs) in estimating energy expenditure (EE) in manual wheelchair users (MWUs) with paraplegia for a variety of physical activities. Methods Twenty-four subjects completed four activities including resting, wheelchair propulsion, arm-ergometry exercise, and deskwork. The criterion EE was measured by a K4b2 portable metabolic cart. The EE estimated by the SW and RT3 were compared with the criterion EE by the absolute differences and absolute percentage errors. Intraclass correlations and the Bland and Altman plots were also used to assess the agreements between the two AMs and the metabolic cart. Correlations between the criterion EE and the estimated EE and sensors data from the AMs were evaluated. Results The EE estimation errors for the AMs varied from 24.4 to 125.8% for the SW and from 22.0 to 52.8% for the RT3. The intraclass correlation coefficients (ICCs) between the criterion EE and the EE estimated by the two AMs for each activity and all activities as a whole were considered poor with all the ICCs smaller than 0.75. Except for deskwork, the EE from the SW was more correlated to the criterion EE than the EE from the RT3. Conclusion The results indicate that neither of the AMs is an appropriate tool for quantifying physical activity in MWUs with paraplegia. However, the accuracy of EE estimation could be potentially improved by building new regression models based on wheelchair-related activities. PMID:21528634

  4. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

    Microsoft Academic Search

    Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frederic Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio

    2011-01-01

    Hereditary spastic paraplegia refers to a genetically heterogeneous syndrome. We identified five members of a family suffering from a late-onset spastic paraplegia-like disorder, carrying the homoplasmic m.9176T>C mutation in the mitochondrial ATP6 gene. The clinical severity of the disease observed in the family was correlated with the biochemical and assembly defects of the ATP synthase. The m.9176T>C mutation has been

  5. Long-term course and mutational spectrum of spatacsin -linked spastic paraplegia

    Microsoft Academic Search

    Ute Hehr; Peter Bauer; Beate Winner; Rebecca Schule; Akguen Olmez; Wolfgang Koehler; Goekhan Uyanik; Anna Engel; Daniela Lenz; Andrea Seibel; Andreas Hehr; Sonja Ploetz; Josep Gamez; Arndt Rolfs; Joachim Weis; Thomas M. Ringer; Michael Bonin; Gerhard Schuierer; Joerg Marienhagen; Ulrich Bogdahn; Bernhard H. F. Weber; Haluk Topaloglu; Ludger Schols; Olaf Riess; Juergen Winkler

    2007-01-01

    Objective: Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One form of autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) was linked to chromosomal region 15q13-21 (SPG11) and associated with mutations in the spatacsin gene. We assessed the long-term course and the mutational spectrum of spatacsin-associated

  6. Spinal extra-dural metastasis from Merkel cell carcinoma: a rare cause of paraplegia

    Microsoft Academic Search

    Kamath Vijay; Krishna Venkateswaran; Ajoy P. Shetty; S. Rajasekaran

    2008-01-01

    We report a rare case of Merkel cell carcinoma with extra-dural spinal metastasis causing paraplegia. There are only four\\u000a reported cases in literature. A 57-year-old lady presented with a breast lump, multiple truncal skin swellings, low back pain\\u000a and rapidly progressive paraplegia. MRI showed multiple epidural soft tissue masses causing neural compression. A biopsy from\\u000a the truncal skin lesion was

  7. Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2Two Faces of Myelin Loss From Mutations in the Same Gene

    Microsoft Academic Search

    Lynn D. Hudson

    2003-01-01

    Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of

  8. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

    PubMed Central

    Chang, Jaerak; Lee, Seongju; Blackstone, Craig

    2014-01-01

    Autophagy allows cells to adapt to changes in their environment by coordinating the degradation and recycling of cellular components and organelles to maintain homeostasis. Lysosomes are organelles critical for terminating autophagy via their fusion with mature autophagosomes to generate autolysosomes that degrade autophagic materials; therefore, maintenance of the lysosomal population is essential for autophagy-dependent cellular clearance. Here, we have demonstrated that the two most common autosomal recessive hereditary spastic paraplegia gene products, the SPG15 protein spastizin and the SPG11 protein spatacsin, are pivotal for autophagic lysosome reformation (ALR), a pathway that generates new lysosomes. Lysosomal targeting of spastizin required an intact FYVE domain, which binds phosphatidylinositol 3-phosphate. Loss of spastizin or spatacsin resulted in depletion of free lysosomes, which are competent to fuse with autophagosomes, and an accumulation of autolysosomes, reflecting a failure in ALR. Moreover, spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration. PMID:25365221

  9. Treatment and prognosis of patients with paraplegia or quadriplegia because of metastatic spinal cord compression in prostate cancer

    Microsoft Academic Search

    M Nagata; T Ueda; A Komiya; H Suzuki; K Akakura; M Ishihara; T Tobe; T Ichikawa; T Igarashi; H Ito

    2003-01-01

    Metastatic spinal cord compression (MSCC) is a serious complication of metastatic prostate cancer (PCa). This study retrospectively evaluated patients who presented with paraplegia or quadriplegia because of MSCC of PCa. Of 847 patients with PCa who were treated between 1989 and 1998, 26 (3.1%) demonstrated paraplegia or quadriplegia because of MSCC. Characteristics, treatment efficacy, and prognosis of these patients were

  10. The mouse rumpshaker mutation of the proteolipid protein in human X-linked recessive spastic paraplegia

    SciTech Connect

    Kobayashi, H.; Hoffman, E.P.; Matise, T.C. [and others

    1994-09-01

    X-linked recessive spastic paraplegia is a rare neurodegenerative disorder characterized by slowly progressive weakness and spasticity of the lower extremities. We have recently genetically analyzed the original X-linked recessive spastic paraplegia family reported by Johnston and McKusick in 1962. We employed a fluorescent multiplex CA repeat strategy using a 22 locus, 10 cM framework map of the human X chromosome and localized the gene within a 36 cM region of Xq2l.3-q24 which includes the PLP locus. Saugier-Veber et al. recently reported a point mutation (His139Tyr) in exon 3B of the PLP gene in an X-linked recessive spastic paraplegia family (SPG2). This family shows no optic atrophy, in contrast to the family we have studied. This data showed that SPG2 and Pelizaeus-Merzbacher disease were allelic disorders. We investigated the PLP gene as a candidate gene for the original X-linked recessive spastic paraplegia family using SSCP and direct sequencing methods. We found a point mutation (T to C) in exon 4 of affected males which alters the amino-acid (Ile to Thr) at residue 186. This change was absent in the unaffected males of the family and in 40 unrelated control females (80 X chromosomes). Surprisingly, this mutation is identical to the mutation previously identified in the rumpshaker mouse model. The complete homology between both the mouse and human PLP sequence, and the mouse rumpshaker mutation and human spastic paraplegia mutation in our family, permit direct parallels to be drawn with regards to pathophysiology. Our data indicates that the well-documented and striking clinical differences between Pelizaeus-Merzbacher disease and X-linked recessive spastic paraplegia is due to the specific effect of different mutations of the human PLP gene on oligodendrocyte differentiation and development and on later myelin production and maintenance.

  11. Acute renal failure and paraplegia in a patient with a pelvic-ring fracture

    Microsoft Academic Search

    Rita Rachmani; Zohar Levi; Rivka Zissin; Jacques Bernheim; Ze' ev Korzets

    2000-01-01

    bladder compression by a retroperitoneal\\/pelvic haem- atoma is a possibility. We observed a patient with an 'open book' pelvic-ring fracture who developed a huge pelvic haematoma after being given enoxaparin. The ensuing pelvic-compartment syndrome resulted in bilateral hydronephrosis and paraplegia, alleviated only by evacuation of the haematoma.

  12. Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.

    PubMed

    Kim, Ji Seon; Kim, Jong Min; Kim, Yu Kyeong; Kim, Sang Eun; Yun, Ji Young; Jeon, Beom S

    2013-11-01

    Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the clinical features of patients with SSP/HSP were investigated, and nigrostriatal dopaminergic binding potential was assessed using dopamine transporter (DAT) single-photon emission computer tomography (SPECT). Nine patients with spastic paraplegia participated in the present study. The subjects underwent DAT SPECT using the agent [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato (3-)-N2,N20,S2,S20]oxo-[IR-(exo-exo)])-[(99)mTc]technetium ([(99)mTc]TRODAT-1). The [(99)mTc]TRODAT-1 SPECT images of five patients appeared normal, whereas the images of four patients revealed reduced striatal ligand uptake. Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder. PMID:24265532

  13. Restoration and analysis of standing-up in complete paraplegia utilizing functional electrical stimulation

    Microsoft Academic Search

    Hitoshi Kagaya; Yoichi Shimada; Kunio Ebata; Mineyoshi Sato; Kozo Sato; Toshihiro Yukawa; Goro Obinata

    1995-01-01

    Objective: Restoration of stand-up motion in patients with complete paraplegia utilizing multichannel functional electrical stimulation, and analysis of the restored motion. Design: Nonrandomized control trial. Setting: General community, a referral center, institutional practice, and ambulatory care. Patients: Twelve volunteer samples were used for the collection of normal data. Two complete paraplegics received treatment for the restoration of stand-up motion. Main

  14. Paraplegia after Gastrectomy in a Patient with Cervical Disc Herniation: A Case Report and Review of Literature

    PubMed Central

    Zhang, Qingfu; Jiang, Wei; Zhou, Quanhong; Wang, Guangyan; Zhao, Linlin

    2014-01-01

    Paraplegia is a rare postoperative complication. We present a case of acute paraplegia after elective gastrectomy surgery because of cervical disc herniation. The 73-year-old man has the medical history of cervical spondylitis with only symptom of temporary pain in neck and shoulder. Although the patient's neck was cautiously preserved by using the Discopo, an acute paraplegia emerged at about 10 hours after the operation. Severe compression of the spinal cord by herniation of the C4-C5 cervical disc was diagnosed and emergency surgical decompression was performed immediately. Unfortunately the patient showed limited improvement in neurologic deficits even after 11 months. PMID:24757571

  15. Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia

    PubMed Central

    Webb, S.; Patterson, V.; Hutchinson, M.

    1997-01-01

    OBJECTIVE—Two families with autosomal recessive hereditary spastic paraplegia and pigmented maculopathy are described.?METHODS—All family members were examined by two neurologists. An assessment of cognitive function in affected members was made using the mini mental state examination (MMSE) or Cambridge cognitive examination (CAMCOG).?RESULTS—Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. Although they were always considered to be intellectually slower than their peers, further intellectual deterioration was noted during the second decade. Five had a pigmented maculopathy with mild decrease in visual acuity and all had distal amyotrophy, mild cerebellar signs, and developed faecal and urinary incontinence late in the course of the disease.?CONCLUSION—The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described; only 11 families with 32 affected members have been reported, showing considerable heterogeneity in presentation. These described conditions may be allelic or more probably reflect mutations at different genetic loci.?? PMID:9408105

  16. Paraplegia Following Intercostal Nerve Neurolysis with Alcohol and Thoracic Epidural Injection in Lung Cancer Patient

    PubMed Central

    Kim, Byoung Ho; No, Min Young; Han, Sang Ju; Park, Cheol Hwan

    2015-01-01

    The goal of cancer treatment is generally pain reduction and function recovery. However, drug therapy does not treat pain adequately in approximately 43% of patients, and the latter may have to undergo a nerve block or neurolysis. In the case reported here, a 42-year-old female patient with lung cancer (adenocarcinoma) developed paraplegia after receiving T8-10 and 11th intercostal nerve neurolysis and T9-10 interlaminar epidural steroid injections. An MRI results revealed extensive swelling of the spinal cord between the T4 spinal cord and conus medullaris, and T5, 7-11, and L1 bone metastasis. Although steroid therapy was administered, the paraplegia did not improve. PMID:25852838

  17. Paraplegia following intercostal nerve neurolysis with alcohol and thoracic epidural injection in lung cancer patient.

    PubMed

    Kim, Byoung Ho; No, Min Young; Han, Sang Ju; Park, Cheol Hwan; Kim, Jae Hun

    2015-04-01

    The goal of cancer treatment is generally pain reduction and function recovery. However, drug therapy does not treat pain adequately in approximately 43% of patients, and the latter may have to undergo a nerve block or neurolysis. In the case reported here, a 42-year-old female patient with lung cancer (adenocarcinoma) developed paraplegia after receiving T8-10 and 11(th) intercostal nerve neurolysis and T9-10 interlaminar epidural steroid injections. An MRI results revealed extensive swelling of the spinal cord between the T4 spinal cord and conus medullaris, and T5, 7-11, and L1 bone metastasis. Although steroid therapy was administered, the paraplegia did not improve. PMID:25852838

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

    PubMed

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

    2012-04-01

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

  19. Acute-onset nontraumatic paraplegia in childhood: fibrocartilaginous embolism or acute myelitis?

    Microsoft Academic Search

    Gavin A. Davis; Geoffrey L. Klug

    2000-01-01

    Fibrocartilaginous embolus causing acute spinal cord infarction is a rare cause of acute-onset paraplegia or quadriplegia.\\u000a Few cases of survivors have been reported in the neurosurgical literature, with most reports involving post-mortem or biopsy\\u000a findings. There is little information on MRI findings in such patients. We present the youngest patient ever reported, and\\u000a discuss the important differences between fibrocartilaginous embolus

  20. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.

    PubMed

    Lo Giudice, Temistocle; Lombardi, Federica; Santorelli, Filippo Maria; Kawarai, Toshitaka; Orlacchio, Antonio

    2014-11-01

    Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spastic paraplegia genes (SPGs) have been identified. All modes of inheritance (autosomal dominant, autosomal recessive, and X-linked) have been described. Recently, a late onset spastic gait disorder with maternal trait of inheritance has been reported, as well as mutations in genes not yet classified as spastic gait disease. Several cellular processes are involved in its pathogenesis, such as membrane and axonal transport, endoplasmic reticulum membrane modeling and shaping, mitochondrial function, DNA repair, autophagy, and abnormalities in lipid metabolism and myelination processes. Moreover, recent evidences have been found about the impairment of endosome membrane trafficking in vesicle formation and about the involvement of oxidative stress and mtDNA polymorphisms in the onset of the disease. Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches. PMID:24954637

  1. Motor protein mutations cause a new form of hereditary spastic paraplegia

    PubMed Central

    Caballero Oteyza, Andrés; Battalo?lu, Esra; Ocek, Levent; Lindig, Tobias; Reichbauer, Jennifer; Rebelo, Adriana P.; Gonzalez, Michael A.; Zorlu, Yasar; Ozes, Burcak; Timmann, Dagmar; Bender, Benjamin; Woehlke, Günther; Züchner, Stephan; Schöls, Ludger

    2014-01-01

    Objective: To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). Methods: We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of the identified mutations. Results: In 2 families, we identified compound heterozygous or homozygous mutations in the kinesin gene KIF1C to cause hereditary spastic paraplegia type 58 (SPG58). SPG58 can be complicated by cervical dystonia and cerebellar ataxia. The same mutations in a heterozygous state result in a mild or subclinical phenotype. KIF1C mutations in SPG58 affect the domains involved in adenosine triphosphate hydrolysis and microtubule binding, key functions for this microtubule-based motor protein. Conclusions: KIF1C is the third kinesin gene involved in the pathogenesis of HSPs and is characterized by a mild dominant and a more severe recessive disease phenotype. The identification of KIF1C as an HSP disease gene further supports the key role of intracellular trafficking processes in the pathogenesis of hereditary axonopathies. PMID:24808017

  2. Atypical Dementia and Spastic Paraplegia in a Patient with Primary Lateral Sclerosis and Numerous Neocortical Beta Amyloid Plaques: New Disorder or Alzheimer's Disease Variant?

    Microsoft Academic Search

    Peter A. Engel; Margaret Grunnet

    2000-01-01

    Primary lateral sclerosis (PLS) and hereditary spastic paraplegia (HSP) are clinically similar disorders in which progressive lower limb spasticity and corticospinal tract degeneration are characteristic. We report the occurrence of progressive spastic paraplegia and frontal systems dementia in a patient with postmortem features of PLS combined with moderate Alzheimer-like changes in neocortex and hippocampus. This combination of clinical and neuropathologic

  3. Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study

    PubMed Central

    SONG, YANMIN; LIU, YUNHAI; ZHANG, NING; LONG, LILI

    2015-01-01

    The aim of the present study was to conduct a familial investigation and provide a genetic diagnosis to a family presenting with spastic paraplegia and clinically diagnosed with hereditary spastic paraplegia (HSP). Blood samples were obtained from the family, and mutations in the gene causing spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), known as MJD1, were analyzed using the polymerase chain reaction, 8% denaturing polyacrylamide gel electrophoresis, and T-vector ligation and sequencing. The trinucleotide repeat number of the mutant allele was 80, leading to a genetic diagnosis of SCA3/MJD. This suggests that patients with SCA3/MJD characteristically present with typical spastic paraplegia without evident manifestations of ataxia. For those families with HSP involving the nervous system and showing genetic anticipation, an MJD1 genetic diagnosis should be considered to assist in clinical diagnosis of HSP. PMID:25574208

  4. Endovascular Coil Embolization of Segmental Arteries Prevents Paraplegia After Subsequent TAAA Repair – An Experimental Model

    PubMed Central

    Geisbüsch, S; Stefanovic, A; Koruth, JS; Lin, HM; Morgello, S; Weisz, DJ; Griepp, RB; Di Luozzo, G

    2013-01-01

    Objective To test a strategy for minimizing ischemic spinal cord injury (SCI) following extensive thoracoabdominal aneurysm (TAAA) repair, we occluded a small number of segmental arteries (SAs) endovascularly one week before simulated aneurysm repair in an experimental model. Methods 30 juvenile Yorkshire pigs (25.2±1.7kg) were randomized into three groups. All SAs—intercostal and lumbar—were sacrificed by a combination of surgical ligation of the lumbar SAs and occlusion of intercostal SAs with thoracic endovascular stent grafting (TEVAR). 7–10 days before this simulated TAAA replacement, SAs in the lower thoracic/upper lumbar region were occluded using embolization coils: 1.5±0.5 SAs in Group 1 (T13/L1), and 4.5±0.5 in Group 2 (T11-L3). No SAs were coiled in the controls. Hind limb function was evaluated blindly from daily videotapes using a modified Tarlov score: 0=paraplegia; 9=full recovery. After sacrifice, each segment of spinal cord was graded histologically using the 9-point Kleinman score: 0=normal, 8=complete necrosis. Results Hind limb function remained normal after coil embolization. After simulated TAAA repair, paraplegia occurred in 6/10 control pigs, but only 2/10 pigs in Group 1: no pigs in Group 2 had SCI. Tarlov scores were significantly better in Group 2 (Control vs 1 p=0.06; Control vs 2 p= 0.0002; 1 vs 2 p=0.05). A dramatic reduction in histologic damage—most prominently in the coiled region—was seen when SAs were embolized before simulated TAAA repair. Conclusions Endovascular coiling of 2–4 SAs prevents paraplegia in an experimental model of extensive hybrid TAAA repair, and helps protect the spinal cord from ischemic histopathological injury. A clinical trial in a selected patient population at high risk for postoperative SCI may be appropriate. PMID:24220154

  5. Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

    PubMed Central

    Pérez-Brangulí, Francesc; Mishra, Himanshu K.; Prots, Iryna; Havlicek, Steven; Kohl, Zacharias; Saul, Domenica; Rummel, Christine; Dorca-Arevalo, Jonatan; Regensburger, Martin; Graef, Daniela; Sock, Elisabeth; Blasi, Juan; Groemer, Teja W.; Schlötzer-Schrehardt, Ursula; Winkler, Jürgen; Winner, Beate

    2014-01-01

    Hereditary spastic paraplegias are a group of inherited motor neuron diseases characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia gene SPG11, encoding spatacsin, cause an autosomal-recessive disease trait; however, the precise knowledge about the role of spatacsin in neurons is very limited. We for the first time analyzed the expression and function of spatacsin in human forebrain neurons derived from human pluripotent stem cells including lines from two SPG11 patients and two controls. SPG11 patients'-derived neurons exhibited downregulation of specific axonal-related genes, decreased neurite complexity and accumulation of membranous bodies within axonal processes. Altogether, these data point towards axonal pathologies in human neurons with SPG11 mutations. To further corroborate spatacsin function, we investigated human pluripotent stem cell-derived neurons and mouse cortical neurons. In these cells, spatacsin was located in axons and dendrites. It colocalized with cytoskeletal and synaptic vesicle (SV) markers and was present in synaptosomes. Knockdown of spatacsin in mouse cortical neurons evidenced that the loss of function of spatacsin leads to axonal instability by downregulation of acetylated tubulin. Finally, time-lapse assays performed in SPG11 patients'-derived neurons and spatacsin-silenced mouse neurons highlighted a reduction in the anterograde vesicle trafficking indicative of impaired axonal transport. By employing SPG11 patient-derived forebrain neurons and mouse cortical neurons, this study provides the first evidence that SPG11 is implicated in axonal maintenance and cargo trafficking. Understanding the cellular functions of spatacsin will allow deciphering mechanisms of motor cortex dysfunction in autosomal-recessive hereditary spastic paraplegia. PMID:24794856

  6. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin.

    PubMed

    Roll-Mecak, Antonina; Vale, Ronald D

    2008-01-17

    Spastin, the most common locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule-severing AAA ATPases involved in constructing neuronal and non-centrosomal microtubule arrays and in segregating chromosomes. The mechanism by which spastin and katanin break and destabilize microtubules is unknown, in part owing to the lack of structural information on these enzymes. Here we report the X-ray crystal structure of the Drosophila spastin AAA domain and provide a model for the active spastin hexamer generated using small-angle X-ray scattering combined with atomic docking. The spastin hexamer forms a ring with a prominent central pore and six radiating arms that may dock onto the microtubule. Helices unique to the microtubule-severing AAA ATPases surround the entrances to the pore on either side of the ring, and three highly conserved loops line the pore lumen. Mutagenesis reveals essential roles for these structural elements in the severing reaction. Peptide and antibody inhibition experiments further show that spastin may dismantle microtubules by recognizing specific features in the carboxy-terminal tail of tubulin. Collectively, our data support a model in which spastin pulls the C terminus of tubulin through its central pore, generating a mechanical force that destabilizes tubulin-tubulin interactions within the microtubule lattice. Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. PMID:18202664

  7. Conversion disorder presenting in a patient with an implantable morphine pump and an epidural abscess resulting in paraplegia

    Microsoft Academic Search

    Michael G. Shell; H. Lee Mitchell; Michael W. Loes; Andrew P. Beldn

    1997-01-01

    Conversion disorders are symptoms or deficits affecting voluntary motor or sensory function that suggest a neurological or medical condition. The psychological symptoms associated with the medical condition must be preceded by conflict or other stressors. We present an individual who developed conversion disorder and paraplegia secondary to a sterile epidural abscess near the tip of her surgically implanted, epidural morphine

  8. Ossification of the posterior longitudinal ligament in the thoracic spine causing intermittent paraplegia in an Englishman: case report

    Microsoft Academic Search

    H Nakamura; H V Crock; B P Galbally; J Dawson

    1992-01-01

    Compression of the spinal cord due to ossification of the posterior longitudinal ligament (OPLL) often leads to quadriplegia or paraplegia in Japanese patients. This disease is uncommon in other races. We report the case of a middle-aged Englishman who presented with complaints of intermittent paraparesis due to OPLL at the T5-T6 level in his thoracic spine.

  9. Abstract--A system to restore walking in the vicinity of a wheelchair for people with paraplegia resulting from spinal

    E-print Network

    Durfee, William K.

    Abstract-- A system to restore walking in the vicinity of a wheelchair for people with paraplegia rapid fatigue thus shortening standing and walking durations, and second, inadequate control of joint for prototype 6. Profile Wheelchair width 7. Don/doff time 15 min OK for prototype 8. Power consumption

  10. Rapidly progressive paraplegia due to an extradural lumbar meningocele mimicking a cyst. Case report.

    PubMed

    Fiss, Ingo; Danne, Marco; Hartmann, Christian; Brock, Mario; Stendel, Ruediger

    2007-07-01

    Unlike arachnoid meningoceles, arachnoid cysts frequently cause local pressure effects probably because there is no free communication between the cyst and the subarachnoid space. Following the first detailed description of cystic lesions of spinal nerve roots by Tarlov in 1938, a simplified classification of spinal meningeal cysts was developed in 1988, containing three major categories. The authors report on a lumbar intraspinal extradural meningocele that caused incomplete paraplegia in an otherwise healthy 31-year-old man in whom magnetic resonance imaging revealed stigmata of Scheuermann disease. Intraoperatively, the lesion was classified as a transitional-type lesion, in accordance with Type IA of the Nabors classification, because a communication with the subarachnoid space was observed. After complete removal of the meningocele, the patient's recovery was prompt and complete. PMID:17633492

  11. Paraplegia in a Patient With IgG4-Related Sclerosing Disease: A Case Report

    PubMed Central

    Kim, Sung Heon; Oh, Sung Han; Paik, Soya; Kim, Joo Sup

    2014-01-01

    Immunoglobulin G4 (IgG4)-related sclerosing disease is a systemic disease, characterized by mass forming inflammatory lesions which respond well to steroid therapy. Pancreas is the most common site of involvement, and other organ involvements are also common. However, there are only a few reports about central nervous system involvement. We report a case of IgG4-related sclerosing disease which involves spinal cord causing paraplegia. A middle-aged female presented with sudden lower limb weakness. Magnetic resonance imaging showed a soft tissue mass which was diffusely compressing spinal cord along the C7 to T5 levels. Intravenous steroid pulse therapy and emergent operation was performed. The immunopathologic findings revealed IgG4-related sclerosing pachymeningitis postoperatively. There was no evidence of other organ involvement. Her neurologic deficit remained unchanged after two months of comprehensive rehabilitation therapy. PMID:25566488

  12. Acute toxemic schistosomiasis complicated by acute flaccid paraplegia due to schistosomal myeloradiculopathy in Sudan.

    PubMed

    Ahmed, Abdelmonim F; Idris, Abdelrahman S; Kareem, Abid M; Dawoud, Talal A

    2008-05-01

    A 55-year old Sudanese physician presented with one month history of diarrhea, loss of weight (10 kg) and low grade nocturnal fever. Following colonoscopy, he rapidly developed paraparesis and retention of urine. Magnetic resonance imaging (MRI) of the spinal cord showed low cord lesion suggestive of transverse myelitis. We present a detailed account of diagnostic and management challenges and a literature review of the final diagnosis of acute toxemic schistosomiasis, complicated by acute flaccid paraplegia due to schistosomal myeloradiculopathy. We are reporting this case to increase the awareness of physicians of schistosomal myeloradiculopathy, as it needs urgent specific treatment praziquantel and steroids. An early follow-up with MRI of the spinal cord (2 weeks treatment) may help in preventing unnecessary neurosurgical intervention. Bilharziasis may be contracted on the banks of the river "White Nile" in urban areas. Finally, clinicians should make use of the Google computer search for diagnosis in difficult cases. PMID:18454231

  13. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

    PubMed

    Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal M E; Tzoulis, Charalampos

    2014-01-01

    Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38-97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present. PMID:24466038

  14. Protrudin Regulates Endoplasmic Reticulum Morphology and Function Associated with the Pathogenesis of Hereditary Spastic Paraplegia*

    PubMed Central

    Hashimoto, Yutaka; Shirane, Michiko; Matsuzaki, Fumiko; Saita, Shotaro; Ohnishi, Takafumi; Nakayama, Keiichi I.

    2014-01-01

    Protrudin is a membrane protein that regulates polarized vesicular trafficking in neurons. The protrudin gene (ZFYVE27) is mutated in a subset of individuals with hereditary spastic paraplegia (HSP), and protrudin is therefore also referred to as spastic paraplegia (SPG) 33. We have now generated mice that express a transgene for dual epitope-tagged protrudin under control of a neuron-specific promoter, and we have subjected highly purified protrudin-containing complexes isolated from the brain of these mice to proteomics analysis to identify proteins that associate with protrudin. Protrudin was found to interact with other HSP-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1 (SPG31), REEP5 (similar to REEP1), Kif5A (SPG10), Kif5B, Kif5C, and reticulon 1, 3, and 4 (similar to reticulon 2, SPG12). Membrane topology analysis indicated that one of three hydrophobic segments of protrudin forms a hydrophobic hairpin domain similar to those of other SPG proteins. Protrudin was found to localize predominantly to the tubular endoplasmic reticulum (ER), and forced expression of protrudin promoted the formation and stabilization of the tubular ER network. The protrudin(G191V) mutant, which has been identified in a subset of HSP patients, manifested an increased intracellular stability, and cells expressing this mutant showed an increased susceptibility to ER stress. Our results thus suggest that protrudin contributes to the regulation of ER morphology and function, and that its deregulation by mutation is a causative defect in HSP. PMID:24668814

  15. Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

    PubMed Central

    Peddareddygari, Leema Reddy; Grewal, Raji P.

    2015-01-01

    Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these clinical features. A lipid profile of his parents disclosed a normal maternal lipid profile. However, the paternal lipid profile was similar to that of the patient suggesting autosomal dominant transmission of this trait. Whole exome sequence analysis was performed and novel mutations were detected in both the SPG11 and the APOB genes. Genetic testing of the parents showed that both APOB variants were inherited from the father while the SPG11 variants were inherited one from each parent. Our results indicate that, in this patient, the hypobetalipoproteinemia and spastic paraplegia are unrelated resulting from mutations in two independent genes. This clinical study provides support for the use of whole exome sequencing as a diagnostic tool for identification of mutations in conditions with complex presentations. PMID:26064709

  16. Enhancing stance phase propulsion during level walking by combining FES with a powered exoskeleton for persons with paraplegia.

    PubMed

    Ha, Kevin H; Quintero, Hugo A; Farris, Ryan J; Goldfarb, Michael

    2012-01-01

    This paper describes the design and implementation of a cooperative controller that combines functional electrical stimulation (FES) with a powered lower limb exoskeleton to provide enhanced hip extension during the stance phase of walking in persons with paraplegia. The controller utilizes two sources of actuation: the electric motors of the powered exoskeleton and the user's machine (FSM), a set of FES. It consists of a finite-state machine (FSM), a set of proportional-derivative (PD) controllers for the exoskeleton and a cycle-to-cycle adaptive controller for muscle stimulation. Level ground walking is conducted on a single subject with complete T10 paraplegia. Results show a 34% reduction in electrical power requirements at the hip joints during the stance phase of the gait cycle with the cooperative controller compared to using electric motors alone. PMID:23365900

  17. Enhancing Stance Phase Propulsion during Level Walking by Combining FES with a Powered Exoskeleton for Persons with Paraplegia*

    PubMed Central

    Ha, Kevin H.; Quintero, Hugo A.; Farris, Ryan J.; Goldfarb, Michael

    2013-01-01

    This paper describes the design and implementation of a cooperative controller that combines functional electrical stimulation (FES) with a powered lower limb exoskeleton to provide enhanced hip extension during the stance phase of walking in persons with paraplegia. The controller utilizes two sources of actuation: the electric motors of the powered exoskeleton and the user’s hamstrings activated by FES. It consists of a finite-state machine (FSM), a set of proportional-derivative (PD) controllers for the exoskeleton and a cycle-to-cycle adaptive controller for muscle stimulation. Level ground walking is conducted on a single subject with complete T10 paraplegia. Results show a 34% reduction in electrical power requirements at the hip joints during the stance phase of the gait cycle with the cooperative controller compared to using electric motors alone. PMID:23365900

  18. Sudden paraplegia following epidural lipomatosis and thoracal compression fracture after long-term steroid therapy: a case report

    Microsoft Academic Search

    Suat Erol Çelik; Sait B. Erer; ?lker Güleç; Recai Gökcan; Sait Naderi

    Sudden paraplegia secondary to the posterior spinal epidural compression and vertebral compression fracture as a complication\\u000a in corticosteroid treatment is extremely rare. The authors presented a case 49-year-old man with chronic relapsing attack\\u000a of Still’s disease. After the identification of pathology, the surgical evacuation of lipid tissue and pedicle-based instrumentation\\u000a showed therapeutic success. To the authors’ knowledge, this is the

  19. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15 and further genetic heterogeneity.

    E-print Network

    Paris-Sud XI, Université de

    Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11 of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia (A.Bo., I.F., N.E., M.I.M, C.M.), the Faculté de Médecine de Sfax, Tunisia (A.Bo., I.F., N.E., M.I.M, C.M.), the INSERM, U679, Paris, France (A

  20. Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia

    Microsoft Academic Search

    Mirko Koppen; Metodi D. Metodiev; Giorgio Casari; Elena I. Rugarli; Thomas Langer

    2007-01-01

    The m-AAA protease, an ATP-dependent proteolytic complex in the mitochondrial inner membrane, controls protein quality and regulates ribosome assembly, thus exerting essential housekeeping functions within mitochondria. Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. Paraplegin assembles with homologous Afg3l2 subunits into hetero-oligomeric

  1. Seat interface pressures of individuals with paraplegia: Influence of dynamic wheelchair locomotion compared with static seated measurements

    Microsoft Academic Search

    Thomas W. Kernozek; Jeff E. Lewin

    1998-01-01

    Objective: To provide a comparison of the seat interface pressures between static seating and dynamic seating during wheelchair locomotion of individuals with paraplegia.Design: Repeated measures multivariate analysis of variance (MANOVA) comparing two conditions: static seat and dynamic seat interface pressures.Setting: University campus and clinic.Participants: Fifteen participants, each of whom propelled a manual wheelchair for at least 5 hours per week

  2. Comparative Study on the Wrist Positions During Raise Maneuver and Their Effect on Hand Function in Individuals With Paraplegia

    PubMed Central

    2013-01-01

    Objective: To determine the appropriate wrist position in individuals with high-level paraplegia during the RAISE (relief of anatomical ischial skin embarrassment) maneuver. Method: Thirty individuals with high-level paraplegia were randomly selected; 15 individuals performed RAISE maneuver with extended wrist and 15 with neutral wrist. All the subjects who were at least 1 year post spinal cord injury were screened for positive carpal tunnel syndrome symptoms. All the subjects were allowed to participate in a trial of the Jebsen-Taylor Test of Hand Function to familiarize them with the test. Hand function was measured using the Jebsen-Taylor test. Results: During the RAISE maneuver, individuals with paraplegia weight bearing on their hands with wrists in the neutral position showed better hand function (P < .001) when compared to those weight bearing with their wrists in extension. Conclusion: Weight bearing with the wrist in neutral position is advisable for paraplegics to prevent the deterioration in hand function due to carpal tunnel syndrome. PMID:23678284

  3. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

    PubMed

    Agosta, Federica; Scarlato, Marina; Spinelli, Edoardo G; Canu, Elisa; Benedetti, Sara; Bassi, Maria Teresa; Casali, Carlo; Sessa, Maria; Copetti, Massimiliano; Pagani, Elisabetta; Comi, Giancarlo; Ferrari, Maurizio; Falini, Andrea; Filippi, Massimo

    2015-07-01

    Purpose To investigate whether specific patterns of brain gray matter (GM) regional volumes and white matter (WM) microstructural abnormalities and spinal cord atrophy occur in patients with pure and complicated hereditary spastic paraplegias (HSPs). Relationships between clinical and cognitive features of patients with HSP who had brain and cervical cord damage were also investigated. Materials and Methods This study was approved by the local ethical committees on human studies, and written informed consent from all subjects was obtained prior to enrollment. Forty-four patients with HSP (20 genetically defined cases and 24 without genetic diagnosis) and 19 healthy control subjects underwent clinical, neuropsychological, and advanced magnetic resonance (MR) imaging evaluations. Patterns of GM atrophy and WM microstructural damage obtained by using structural and diffusion-tensor MR imaging were compared between groups. Cervical cord atrophy was also assessed by using an active surface method. Correlations between clinical, cognitive, and diffusion-tensor MR imaging measures were evaluated. Results Clinical data showed that spastic paraplegia is accompanied by a number of other features, including sensory disturbances, and verbal and spatial memory deficits, not only in complicated HSP but also in pure HSP. MR imaging demonstrated a similar involvement of motor, association, and cerebellar WM pathways (P < .05, family-wise error corrected for multiple comparisons) and cervical cord (P < .001) in patients with HSP relative to healthy control subjects, regardless of their clinical picture. The severity of WM damage correlated with the degree of spasticity (P < .05, family-wise error corrected) and cognitive impairment (r values, -0.39 to 0.51; P values, .001-.05) in both pure and complicated HSP. Conclusion The detection of a distributed pattern of central nervous system damage in patients with pure and complicated HSP suggests that the "primary" corticospinal tract involvement known to occur in these patients may be associated with a neurodegenerative process, which spreads out to extramotor regions, likely via anatomic connections. This observation is in line with emerging pieces of evidence that, independent of the clinical phenotype, there is a common neurodegenerative cascade shared by different neurologic disorders. (©) RSNA, 2015 Online supplemental material is available for this article. PMID:25611737

  4. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

    PubMed

    Fink, John K

    2013-09-01

    Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. There are more than 50 genetic types of HSP. HSP affects individuals of diverse ethnic groups with prevalence estimates ranging from 1.2 to 9.6 per 100,000. Symptoms may begin at any age. Gait impairment that begins after childhood usually worsens very slowly over many years. Gait impairment that begins in infancy and early childhood may not worsen significantly. Postmortem studies consistently identify degeneration of corticospinal tract axons (maximal in the thoracic spinal cord) and degeneration of fasciculus gracilis fibers (maximal in the cervico-medullary region). HSP syndromes thus appear to involve motor-sensory axon degeneration affecting predominantly (but not exclusively) the distal ends of long central nervous system (CNS) axons. In general, proteins encoded by HSP genes have diverse functions including (1) axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly SPG4/Spastin); (2) endoplasmic reticulum morphology (e.g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); (3) mitochondrial function (e.g. SPG13/chaperonin 60/heat-shock protein 60, SPG7/paraplegin; and mitochondrial ATP6); (4) myelin formation (e.g. SPG2/Proteolipid protein and SPG42/Connexin 47); (5) protein folding and ER-stress response (SPG6/NIPA1, SPG8/K1AA0196 (Strumpellin), SGP17/BSCL2 (Seipin), "mutilating sensory neuropathy with spastic paraplegia" owing to CcT5 mutation and presumably SPG18/ERLIN2); (6) corticospinal tract and other neurodevelopment (e.g. SPG1/L1 cell adhesion molecule and SPG22/thyroid transporter MCT8); (7) fatty acid and phospholipid metabolism (e.g. SPG28/DDHD1, SPG35/FA2H, SPG39/NTE, SPG54/DDHD2, and SPG56/CYP2U1); and (8) endosome membrane trafficking and vesicle formation (e.g. SPG47/AP4B1, SPG48/KIAA0415, SPG50/AP4M1, SPG51/AP4E, SPG52/AP4S1, and VSPG53/VPS37A). The availability of animal models (including bovine, murine, zebrafish, Drosophila, and C. elegans) for many types of HSP permits exploration of disease mechanisms and potential treatments. This review highlights emerging concepts of this large group of clinically similar disorders. PMID:23897027

  5. Development of an indoor rowing machine with manual FES controller for total body exercise in paraplegia.

    PubMed

    Davoodi, Rahman; Andrews, Brian J; Wheeler, Garry D; Lederer, Robert

    2002-09-01

    Concept 2 indoor rowing machine (Concept 2 Inc., USA) was modified for functional electrical stimulation (FES) rowing exercise in paraplegia. A new seating system provides trunk stability and constrains the leg motion to the sagittal plane. A 4-channel electrical stimulator activates the quadriceps and hamstrings in Drive and Recovery phases of the rowing cycle, respectively. Two force-sensing resistors (FSR) on the handle measure the thumb press as the command signal to the electrical stimulator. Optical encoders measure the positions of the seat and handle during rowing. To synchronize the voluntarily controlled upper body movement with the FES controlled leg movement, a novel manual control system was developed. It uses the voluntary thumb presses to control the timing of the stimulation to the paralyzed leg muscles. The manual control system was intuitive and easy to learn and resulted in well-coordinated rowing. Evaluation of the modified rower by paraplegic volunteers showed that it is effective, safe, and affordable exercise alternative for paraplegics. PMID:12503785

  6. Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

    PubMed Central

    2013-01-01

    Background Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation of motor and sensory tracts in patients with HSP. Methods We clinically and electrophysiologically examined a cohort of 128 patients with genetically confirmed or clinically probable HSP. Motor evoked potentials (MEPs) to arms and legs, somato-sensory evoked potentials of median and tibial nerves, and nerve conduction studies of tibial, ulnar, sural, and radial nerves were assessed. Results Whereas all patients showed clinical signs of spastic paraparesis, MEPs were normal in 27% of patients and revealed a broad spectrum with axonal or demyelinating features in the others. This heterogeneity can at least in part be explained by different underlying genotypes, hinting for distinct pathomechanisms in HSP subtypes. In the largest subgroup, SPG4, an axonal type of damage was evident. Comprehensive electrophysiological testing disclosed a more widespread affection of long fibre tracts involving peripheral nerves and the sensory system in 40%, respectively. Electrophysiological abnormalities correlated with the severity of clinical symptoms. Conclusions Whereas HSP is primarily considered as an upper motoneuron disorder, our data suggest a more widespread affection of motor and sensory tracts in the central and peripheral nervous system as a common finding in HSP. The distribution patterns of electrophysiological abnormalities were associated with distinct HSP genotypes and could reflect different underlying pathomechanisms. Electrophysiological measures are independent of symptomatic treatment and may therefore serve as a reliable biomarker in upcoming HSP trials. PMID:24107482

  7. A Preliminary Assessment of Legged Mobility Provided by a Lower Limb Exoskeleton for Persons With Paraplegia

    PubMed Central

    Farris, Ryan J.; Quintero, Hugo A.; Murray, Spencer A.; Ha, Kevin H.; Hartigan, Clare; Goldfarb, Michael

    2015-01-01

    This paper presents an assessment of a lower limb exoskeleton for providing legged mobility to people with paraplegia. In particular, the paper presents a single-subject case study comparing legged locomotion using the exoskeleton to locomotion using knee–ankle–foot orthoses (KAFOs) on a subject with a T10 motor and sensory complete injury. The assessment utilizes three assessment instruments to characterize legged mobility, which are the timed up-and-go test, the Ten-Meter Walk Test (10 MWT), and the Six-Minute Walk Test (6 MWT), which collectively assess the subject’s ability to stand, walk, turn, and sit. The exertion associated with each assessment instrument was assessed using the Physiological Cost Index. Results indicate that the subject was able to perform the respective assessment instruments 25%, 70%, and 80% faster with the exoskeleton relative to the KAFOs for the timed up-and-go test, the 10 MWT, and the 6 MWT, respectively. Measurements of exertion indicate that the exoskeleton requires 1.6, 5.2, and 3.2 times less exertion than the KAFOs for each respective assessment instrument. The results indicate that the enhancement in speed and reduction in exertion are more significant during walking than during gait transitions. PMID:23797285

  8. The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase

    PubMed Central

    Inloes, Jordon M.; Dix, Melissa M.; Viader, Andreu; Masuda, Kim; Takei, Thais; Wood, Malcolm R.; Cravatt, Benjamin F.

    2014-01-01

    Complex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasticity and weakness and intellectual disability. Deleterious mutations in the poorly characterized serine hydrolase DDHD2 are a causative basis for recessive complex HSP. DDHD2 exhibits phospholipase activity in vitro, but its endogenous substrates and biochemical functions remain unknown. Here, we report the development of DDHD2?/? mice and a selective, in vivo-active DDHD2 inhibitor and their use in combination with mass spectrometry-based lipidomics to discover that DDHD2 regulates brain triglycerides (triacylglycerols, or TAGs). DDHD2?/? mice show age-dependent TAG elevations in the central nervous system, but not in several peripheral tissues. Large lipid droplets accumulated in DDHD2?/? brains and were localized primarily to the intracellular compartments of neurons. These metabolic changes were accompanied by impairments in motor and cognitive function. Recombinant DDHD2 displays TAG hydrolase activity, and TAGs accumulated in the brains of wild-type mice treated subchronically with a selective DDHD2 inhibitor. These findings, taken together, indicate that the central nervous system possesses a specialized pathway for metabolizing TAGs, disruption of which leads to massive lipid accumulation in neurons and complex HSP syndrome. PMID:25267624

  9. Burn from car seat heater in a man with paraplegia: case report

    PubMed Central

    Benjamin, Cheryl; Gittler, Michelle; Lee, Ray

    2011-01-01

    Objective/background Heated car seats are a common feature in newer automobiles. They are increasingly being recognized as potential hazards as there have been multiple reports of significant burns to its users. The potential for harm is considerably increased in those with impaired sensation with the possibility of a devastating injury. Methods Case report and literature review. Results A 26-year-old male with a T8 ASIA A paraplegia presented to the outpatient clinic for management of a hip burn. Two weeks prior to his visit he was driving a 2004 Jeep Cherokee for approximately 30 minutes. He was unaware that the driver's side seat warmer was set on high. He denied that his seat belt was in direct contact with the skin of his right hip. He presented to an acute care hospital that evening with a hip burn where he was prescribed silver sulfadiazine cream and instructed to apply it until his scheduled follow-up clinic visit. In clinic, the hip wound was unstageable with approximately 95% eschar. A dressing of bismuth tribromophenate in petrolatum was applied to the wound and he was instructed to change the dressing daily. This was later changed to an antimicrobial alginate dressing. The ulcer eventually healed. Conclusions This case illustrates the significant risk of car seat heaters in individuals with spinal cord injuries or neurological impairment who have decreased sensation. Additionally, it highlights an atypical area of potential for burn. Furthermore, it emphasizes the need for a heightened awareness for this unique and dangerous situation. PMID:21756574

  10. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

    PubMed

    Kumar, Kishore R; Blair, Nicholas F; Vandebona, Himesha; Liang, Christina; Ng, Karl; Sharpe, David M; Grünewald, Anne; Gölnitz, Uta; Saviouk, Viatcheslav; Rolfs, Arndt; Klein, Christine; Sue, Carolyn M

    2013-10-01

    Molecular characterization is important for an accurate diagnosis in hereditary spastic paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of autosomal dominant forms. We performed targeted next generation sequencing (NGS) in a SPAST-negative HSP sample. Forty-four consecutive HSP patients were recruited from an adult neurogenetics clinic in Sydney, Australia. SPAST mutations were confirmed in 17 subjects, and therefore 27 SPAST-negative patients were entered into this study. Patients were screened according to mode of inheritance using a PCR-based library and NGS (Roche Junior 454 sequencing platform). The screening panel included ten autosomal dominant (AD) and nine autosomal recessive (AR) HSP-causing genes. A genetic cause for HSP was identified in 25.9 % (7/27) of patients, including 1/12 classified as AD and 6/15 as AR or sporadic inheritance. Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations). Additional clinical features were noted, including optic atrophy and ataxia for patients with SPG5 and ataxia and a chronic progressive external ophthalmoplegia-like phenotype for SPG7. This protocol enabled the identification of a genetic cause in approximately 25 % of patients in whom one of the most common genetic forms of HSP (SPG4) was excluded. Targeted NGS may be a useful method to screen for mutations in multiple genes associated with HSP. More studies are warranted to determine the optimal approach to achieve a genetic diagnosis in this condition. PMID:23812641

  11. Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

    PubMed Central

    Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel; Muriel, Marie-Paule; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-François; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A.; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frédéric

    2014-01-01

    Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that segregated in the heterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.Phe72Tyr]) that segregated in trans with a splice site mutation (c.105+3G>T) in a family with autosomal-recessive transmission. REEP2 belongs to a family of proteins that shape the endoplasmic reticulum, an organelle that was altered in fibroblasts from an affected subject. In vitro, the p.Val36Glu variant in the autosomal-dominant family had a dominant-negative effect; it inhibited the normal binding of wild-type REEP2 to membranes. The missense substitution p.Phe72Tyr, in the recessive family, decreased the affinity of the mutant protein for membranes that, together with the splice site mutation, is expected to cause complete loss of REEP2 function. Our findings illustrate how dominant and recessive inheritance can be explained by the effects and nature of mutations in the same gene. They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity. PMID:24388663

  12. Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

    PubMed

    Solowska, Joanna M; Morfini, Gerardo; Falnikar, Aditi; Himes, B Timothy; Brady, Scott T; Huang, Dongyang; Baas, Peter W

    2008-02-27

    Spastin and P60-katanin are two distinct microtubule-severing proteins. Autosomal dominant mutations in the SPG4 locus corresponding to spastin are the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative disease that afflicts the adult corticospinal tracts. Here we sought to evaluate whether SPG4-based HSP is best understood as a "loss-of-function" disease. Using various rat tissues, we found that P60-katanin levels are much higher than spastin levels during development. In the adult, P60-katanin levels plunge dramatically but spastin levels decline only slightly. Quantitative data of spastin expression in specific regions of the nervous system failed to reveal any obvious explanation for the selective sensitivity of adult corticospinal tracts to loss of spastin activity. An alternative explanation relates to the fact that the mammalian spastin gene has two start codons, resulting in a 616 amino acid protein called M1 and a slightly shorter protein called M85. We found that M1 is almost absent from developing neurons and most adult neurons but comprises 20-25% of the spastin in the adult spinal cord, the location of the axons that degenerate during HSP. Experimental expression in cultured neurons of a short dysfunctional M1 polypeptide (but not a short dysfunctional M85 peptide) is deleterious to normal axonal growth. In squid axoplasm, the M1 peptide dramatically inhibits fast axonal transport, whereas the M85 peptide does not. These results are consistent with a "gain-of-function" mechanism underlying HSP wherein spastin mutations produce a cytotoxic protein in the case of M1 but not M85. PMID:18305248

  13. Activation of lower back muscles via FES for pressure sores prevention in paraplegia: a case study.

    PubMed

    Vanoncini, M; Holderbaum, W; Andrews, B J

    2010-04-01

    The aim of this paper is to show the feasibility of the use of functional electrical stimulation (FES) applied to the lower back muscles for pressure sores prevention in paraplegia. The hypothesis under study is that FES induces a change in the pressure distribution on the contact area during sitting. Tests were conducted on a paraplegic subject (T5), sitting on a standard wheelchair and cushion. Trunk extensors (mainly the erector spinae) were stimulated using surface electrodes placed on the skin. A pressure mapping system was used to measure the pressure on the sitting surface in four situations: (a) no stimulation; (b) stimulation on one side of the spine only; (c) stimulation on both sides, at different levels; and (d) stimulation at the same level on both sides, during pressure-relief manoeuvres. A session of prolonged stimulation was also conducted. The experimental results show that the stimulation of the erector spinae on one side of the spine can induce a trunk rotation on the sagittal plane, which causes a change in the pressure distribution. A decrease of pressure on the side opposite to the stimulation was recorded. The phenomenon is intensified when different levels of stimulation are applied to the two sides, and such change can be sustained for a considerable time (around 5 minutes). The stimulation did not induce changes during pressure-relief manoeuvres. Finally, from this research we can conclude that the stimulation of the trunk extensors can be a useful tool for pressure sores prevention, and can potentially be used in a routine for pressure sores prevention based on periodical weight shifts. PMID:20170355

  14. Successful surgical treatment of descending aorta interruption in a 29-year-old woman with acute paraplegia and subarachnoid hemorrhage: a case report.

    PubMed

    Bai, Shutang; Wang, Zhiheng; Zhang, Liang; Fu, Hongdu; Zhuang, Huanwei; Cao, Xianjun; Liang, Liming; Yang, Yanqi

    2015-01-01

    Interruption of the descending aorta is an extremely rare great vessel malformation. In this report, we describe a very unusual case of a 29-year-old female with a 13-year history of hypertension who was found to have an interruption of the descending aorta when she was hospitalized with a subarachnoid hemorrhage and symptoms of acute paraplegia. We successfully surgically corrected the defect using a Gore-Tex® graft to bypass the aortic interruption. The patient's blood pressure postoperatively returned to normal, and the patient recovered completely from her paraplegia by the time of her 5-month follow-up visit. PMID:26045082

  15. Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    PubMed Central

    Schuurs-Hoeijmakers, Janneke H.M.; Geraghty, Michael T.; Kamsteeg, Erik-Jan; Ben-Salem, Salma; de Bot, Susanne T.; Nijhof, Bonnie; van de Vondervoort, Ilse I.G.M.; van der Graaf, Marinette; Nobau, Anna Castells; Otte-Höller, Irene; Vermeer, Sascha; Smith, Amanda C.; Humphreys, Peter; Schwartzentruber, Jeremy; Ali, Bassam R.; Al-Yahyaee, Saeed A.; Tariq, Said; Pramathan, Thachillath; Bayoumi, Riad; Kremer, Hubertus P.H.; van de Warrenburg, Bart P.; van den Akker, Willem M.R.; Gilissen, Christian; Veltman, Joris A.; Janssen, Irene M.; Vulto-van Silfhout, Anneke T.; van der Velde-Visser, Saskia; Lefeber, Dirk J.; Diekstra, Adinda; Erasmus, Corrie E.; Willemsen, Michèl A.; Vissers, Lisenka E.L.M.; Lammens, Martin; van Bokhoven, Hans; Brunner, Han G.; Wevers, Ron A.; Schenck, Annette; Al-Gazali, Lihadh; de Vries, Bert B.A.; de Brouwer, Arjan P.M.

    2012-01-01

    We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A1 (iPLA1). The core phenotype of this HSP syndrome consists of very early-onset (<2 years) spastic paraplegia, intellectual disability, and a specific pattern of brain abnormalities on cerebral imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models. All identified mutations affect the protein’s DDHD domain, which is vital for its phospholipase activity. In line with the function of DDHD2 in lipid metabolism and its role in the CNS, an abnormal lipid peak indicating accumulation of lipids was detected with cerebral magnetic resonance spectroscopy, which provides an applicable diagnostic biomarker that can distinguish the DDHD2 phenotype from other complex HSP phenotypes. We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA1 family to human neurologic disease. PMID:23176823

  16. Paraplegia increased cardiac NGF content, sympathetic tonus, and the susceptibility to ischemia-induced ventricular tachycardia in conscious rats.

    PubMed

    Lujan, Heidi L; Chen, Ying; Dicarlo, Stephen E

    2009-05-01

    Midthoracic spinal cord injury is associated with ventricular arrhythmias that are mediated, in part, by enhanced cardiac sympathetic activity. Furthermore, it is well known that sympathetic neurons have a lifelong requirement for nerve growth factor (NGF). NGF is a neurotrophin that supports the survival and differentiation of sympathetic neurons and enhances target innervation. Therefore, we tested the hypothesis that paraplegia is associated with an increased cardiac NGF content, sympathetic tonus, and susceptibility to ischemia-induced ventricular tachyarrhythmias. Intact and paraplegic (6-9 wk posttransection, T(5) spinal cord transection) rats were instrumented with a radiotelemetry device for recording arterial pressure, temperature, and ECG, and a snare was placed around the left main coronary artery. Following recovery, the susceptibility to ventricular arrhythmias (coronary artery occlusion) was determined in intact and paraplegic rats. In additional groups of matched intact and paraplegic rats, cardiac nerve growth factor content (ELISA) and cardiac sympathetic tonus were determined. Paraplegia, compared with intact, increased cardiac nerve growth factor content (2,146 +/- 286 vs. 180 +/- 36 pg/ml, P < 0.05) and cardiac sympathetic tonus (154 +/- 4 vs. 68 +/- 4 beats/min, P < 0.05) and decreased the ventricular arrhythmia threshold (3.6 +/- 0.2 vs. 4.9 +/- 0.2 min, P < 0.05). Thus altered autonomic behavior increases the susceptibility to ventricular arrhythmias in paraplegic rats. PMID:19286942

  17. Effect of choice of recovery patterns on handrim kinetics in manual wheelchair users with paraplegia and tetraplegia

    PubMed Central

    Raina, Shashank; McNitt-Gray, Jill; Mulroy, Sara; Requejo, Philip

    2012-01-01

    Background Impact forces experienced by the upper limb at the beginning of each wheelchair propulsion (WCP) cycle are among the highest forces experienced by wheelchair users. Objective To determine whether the magnitude of hand/forearm velocity prior to impact and effectiveness of rim impact force are dependent on the type of hand trajectory pattern chosen by the user during WCP. Avoiding patterns that inherently cause higher impact force and have lower effectiveness can be another step towards preserving upper limb function in wheelchair users. Methods Kinematic (50 Hz) and kinetic (2500 Hz) data were collected on 34 wheelchair users (16 with paraplegia and 18 with tetraplegia); all participants had motor complete spinal cord injuries ASIA A or B. The four-hand trajectory patterns were analyzed based on velocity prior to contact, peak impact force and the effectiveness of force at impact. Results A high correlation was found between the impact force and the relative velocity of the hand with respect to the wheel (P < 0.05). The wheelchair users with paraplegia were found to have higher effectiveness of force at impact as compared to the users with tetraplegia (P < 0.05). No significant differences in the impact force magnitudes were found between the four observed hand trajectory patterns. Conclusion The overall force effectiveness tended to be associated with the injury level of the user and was found to be independent of the hand trajectory patterns. PMID:22507024

  18. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

    PubMed

    Finsterer, Josef; Löscher, Wolfgang; Quasthoff, Stefan; Wanschitz, Julia; Auer-Grumbach, Michaela; Stevanin, Giovanni

    2012-07-15

    Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG). Pure SPG is characterised by progressive spasticity and weakness of the lower-limbs, and occasionally sensory disturbances or bladder dysfunction. Complex SPGs additionally include cognitive impairment, dementia, epilepsy, extrapyramidal disturbances, cerebellar involvement, retinopathy, optic atrophy, deafness, polyneuropathy, or skin lesions in the absence of coexisting disorders. Nineteen SPGs follow an autosomal-dominant (AD-SPG), 27 an autosomal-recessive (AR-SPG), 5 X-linked (XL-SPG), and one a maternal trait of inheritance. SPGs are due to mutations in genes encoding for proteins involved in the maintenance of corticospinal tract neurons. Among the AD-SPGs, 40-45% of patients carry mutations in the SPAST-gene (SPG4) and 10% in the ATL1-gene (SPG3), while the other 9 genes are more rarely involved (NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), RNT2 (SPG12), SPGD1 (SPG13), BSCL2 (SPG17), REEP1 (SPG31), ZFYVE27 (SPG33, debated), and SLC33A1 (SPG42, debated)). Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). Among the XL-SPGs, 3 causative genes have been identified (L1CAM (SPG1), PLP1 (SPG2), and SLC16A2 (SPG22)). The diagnosis of SPGs is based on clinical, instrumental and genetic investigations. Treatment is exclusively symptomatic. PMID:22554690

  19. A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

    PubMed Central

    Khundadze, Mukhran; Kollmann, Katrin; Koch, Nicole; Biskup, Christoph; Nietzsche, Sandor; Zimmer, Geraldine; Hennings, J. Christopher; Huebner, Antje K.; Symmank, Judit; Jahic, Amir; Ilina, Elena I.; Karle, Kathrin; Schöls, Ludger; Kessels, Michael; Braulke, Thomas; Qualmann, Britta; Kurth, Ingo; Beetz, Christian; Hübner, Christian A.

    2013-01-01

    Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene and is additionally characterized by cerebellar ataxia, mental decline, and progressive thinning of the corpus callosum. ZFYVE26 encodes the FYVE domain-containing protein ZFYVE26/SPASTIZIN, which has been suggested to be associated with the newly discovered adaptor protein 5 (AP5) complex. We show that Zfyve26 is broadly expressed in neurons, associates with intracellular vesicles immunopositive for the early endosomal marker EEA1, and co-fractionates with a component of the AP5 complex. As the function of ZFYVE26 in neurons was largely unknown, we disrupted Zfyve26 in mice. Zfyve26 knockout mice do not show developmental defects but develop late-onset spastic paraplegia with cerebellar ataxia confirming that SPG15 is caused by ZFYVE26 deficiency. The morphological analysis reveals axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum. Importantly, neuron loss is preceded by accumulation of large intraneuronal deposits of membrane-surrounded material, which co-stains with the lysosomal marker Lamp1. A density gradient analysis of brain lysates shows an increase of Lamp1-positive membrane compartments with higher densities in Zfyve26 knockout mice. Increased levels of lysosomal enzymes in brains of aged knockout mice further support an alteration of the lysosomal compartment upon disruption of Zfyve26. We propose that SPG15 is caused by an endolysosomal membrane trafficking defect, which results in endolysosomal dysfunction. This appears to be particularly relevant in neurons with highly specialized neurites such as cortical motoneurons and Purkinje cells. PMID:24367272

  20. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clincal review with six additional families

    SciTech Connect

    Schrander-Stumpel, C.; Hoeweler, C. [Univ. of Limburg (Netherlands); Jones, M. [Children`s Hospital, Sandiego, CA (United States)] [and others

    1995-05-22

    X-linked hydrocephalus (HSAS) (MIM{sup *}307000), MASA syndrome (MIM {sup *}303350), and complicated spastic paraplegia (SPG1) (MIM {sup *}3129000) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1. 79 refs., 6 figs., 2 tabs.

  1. PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion

    PubMed Central

    Ho, Philip Wing-Lok; Pang, Shirley Yin-Yu; Li, Miaoxin; Tse, Zero Ho-Man; Kung, Michelle Hiu-Wai; Sham, Pak-Chung; Ho, Shu-Leong

    2015-01-01

    Background Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. Recently, we described a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with autosomal dominant FSP. Further to this finding, here we describe the functional effect of this mutation. Methods As PMCA4 removes cytosolic calcium, we measured transient changes and the time-dependent decay of cytosolic calcium level as visualized by using fura-2 fluorescent dye with confocal microscopy in human SH-SY5Y neuroblastoma cells overexpressing either wild-type or R268Q mutant PMCA4. Results Overexpressing both wild-type and R268Q PMCA4 significantly reduced maximum calcium surge after KCl-induced depolarization as compared with vector control cells. However, cells overexpressing mutant PMCA4 protein demonstrated significantly higher level of calcium surge when compared with wild-type. Furthermore, the steady-state cytosolic calcium concentration in these mutant cells remained markedly higher than the wild-type after SERCA inhibition by thapsigargin. Conclusion Our result showed that p.R268Q mutation in PMCA4 resulted in functional changes in calcium homeostasis in human neuronal cells. This suggests that calcium dysregulation may be associated with the pathogenesis of FSP. PMID:25798335

  2. Transcriptional and Post-Transcriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia

    PubMed Central

    Henson, Brian J.; Zhu, Wan; Hardaway, Kelsey; Wetzel, Jaime L.; Stefan, Mihaela; Albers, Kathryn M.; Nicholls, Robert D.

    2012-01-01

    Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders that are characterized by progressive spasticity of the lower extremities, due to axonal degeneration in the corticospinal motor tracts. HSPs are genetically heterogeneous and show autosomal dominant inheritance in ?70–80% of cases, with additional cases being recessive or X-linked. The most common type of HSP is SPG4 with mutations in the SPAST gene, encoding spastin, which occurs in 40% of dominantly inherited cases and in ?10% of sporadic cases. Both loss-of-function and dominant-negative mutation mechanisms have been described for SPG4, suggesting that precise or stoichiometric levels of spastin are necessary for biological function. Therefore, we hypothesized that regulatory mechanisms controlling expression of SPAST are important determinants of spastin biology, and if altered, could contribute to the development and progression of the disease. To examine the transcriptional and post-transcriptional regulation of SPAST, we used molecular phylogenetic methods to identify conserved sequences for putative transcription factor binding sites and miRNA targeting motifs in the SPAST promoter and 3?-UTR, respectively. By a variety of molecular methods, we demonstrate that SPAST transcription is positively regulated by NRF1 and SOX11. Furthermore, we show that miR-96 and miR-182 negatively regulate SPAST by effects on mRNA stability and protein level. These transcriptional and miRNA regulatory mechanisms provide new functional targets for mutation screening and therapeutic targeting in HSP. PMID:22574173

  3. Unusual Presentation of a Primary Ewing’s Sarcoma of the Spine with Paraplegia: A Case Report

    PubMed Central

    Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

    2015-01-01

    Ewing’s sarcoma is a primary malignancy of the bone affecting individuals in the second decade of life. Primary sarcomas of the spine are rare and the occurrence of Primary Ewing’s sarcoma in the spine is very rare. Ewing’s sarcoma occurring in the spine is divided into two types, Ewing’s sarcoma of sacral spine which are very aggressive with poor prognosis and Ewing’s sarcoma of the non sacral spine which is an extremely rare occurrence. Patient may present with neurological deficit when the tumour extends into the spinal canal causing spinal cord compression. Magnetic resonance imaging (MRI) is very sensitive in diagnosing the tumour and defining the extent of the tumour. Here we report an 18-year-old boy who presented with back pain and complete paraplegia of two months duration. The MRI gave a differential diagnosis of infective pathology due to the fluid collection in the paraspinal region, followed by primary malignancy as the second diagnosis. Patient underwent posterior spinal decompression and stabilization, and intaoperatively there was significant collection of pus whose culture showed no growth. The histopathology and immunohistochemistry studies confirmed the diagnosis of Ewing’s sarcoma and patient was started on combination chemotherapy and radiotherapy. PMID:25954672

  4. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    PubMed Central

    2010-01-01

    Background Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. Methods We defined the SPAST and ATL1 mutational spectrum in a total of 370 unrelated HSP index cases from Spain (83% with a pure phenotype). Results We found 50 SPAST mutations (including two large deletions) in 54 patients and 7 ATL1 mutations in 11 patients. A total of 33 of the SPAST and 3 of the ATL1 were new mutations. A total of 141 (31%) were familial cases, and we found a higher frequency of mutation carriers among these compared to apparently sporadic cases (38% vs. 5%). Five of the SPAST mutations were predicted to affect the pre-mRNA splicing, and in 4 of them we demonstrated this effect at the cDNA level. In addition to large deletions, splicing, frameshifting, and missense mutations, we also found a nucleotide change in the stop codon that would result in a larger ORF. Conclusions In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases. These mutations were more frequent in familial cases (compared to sporadic), and were associated with heterogeneous clinical manifestations. PMID:20932283

  5. Tetraplegia or paraplegia with brachial diparesis? What is the most appropriate designation for the motor deficit in patients with lower cervical spinal cord injury?

    PubMed

    Figueiredo, Nicandro; Figueiredo, Iara Eberhard; Resnick, Daniel

    2013-02-01

    The authors seek to clarify the nomenclature used to describe cervical spinal cord injuries, particularly the use of the terms "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia" when applied to patients with lower cervical cord injuries. A review of the origin of the terms and nomenclature used currently to describe the neurological status of patients with SCI in the literature was performed. The terms "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia" have been used very often to describe patients with complete lower cervical SCI despite the fact that the clinical scenario is all the same for most of these patients. Most of these patients have total loss of the motor voluntary movements of their lower trunk and inferior limbs, and partial impairment of movement of their superior limbs, preserving many motor functions of the proximal muscles of their arms (superior limbs). A potentially better descriptive term may be "paraplegia with brachial diparesis". In using the most appropriate terminology, the patients with lower cervical SCI currently referred as presenting with "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia", might be better described as having "paraplegia with brachial diparesis". PMID:22825074

  6. Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

    PubMed Central

    Hanein, Sylvain; Martin, Elodie; Boukhris, Amir; Byrne, Paula; Goizet, Cyril; Hamri, Abdelmadjid; Benomar, Ali; Lossos, Alexander; Denora, Paola; Fernandez, José; Elleuch, Nizar; Forlani, Sylvie; Durr, Alexandra; Feki, Imed; Hutchinson, Michael; Santorelli, Filippo M.; Mhiri, Chokri; Brice, Alexis; Stevanin, Giovanni

    2008-01-01

    Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both “uncomplicated” and “complicated” forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive “complicated” HSP have been mapped. The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. Here, we report the refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26, which encodes a zinc-finger protein with a FYVE domain that we named spastizin, as the cause of SPG15. Six different truncating mutations were found to segregate with the disease in eight families with a phenotype that included variable clinical features of Kjellin syndrome. ZFYVE26 mRNA was widely distributed in human tissues, as well as in rat embryos, suggesting a possible role of this gene during embryonic development. In the adult rodent brain, its expression profile closely resembled that of SPG11, another gene responsible for complicated HSP. In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking. PMID:18394578

  7. [Paraplegia and dissection of the abdominal aorta after closed trauma. Apropos of a case. Current review of the literature (1982-1993)].

    PubMed

    Solovei, G; Alame, A; Bardoux, J; Cart, P; Vix, J; Petit, J; Dion, J J; Ribere, R

    1994-05-01

    A case of dissection with thrombosis of the subrenal abdominal aorta after blunt trauma led to paraplegia and bilateral ischaemia of the lower limbs in addition to acute abdominal signs. A review of the recent literature (1982-1993) revealed 32 reported cases. The patients were predominantly male and most often victims of an automobile accident (18 cases) or crushing trauma (6 cases). The clinical picture associated diverse degrees of abdominal signs, ischaemia and sensorial-motor impairment of the lower limbs. The diagnosis was established immediately on D0 in only 18 cases, early on days 1 to 7 in 4 cases and was late (day 8 to day 30) in 5 cases or very late (beyond day 30) in 6 cases. The difficulty in immediate diagnosis was related to the absent or incomplete vascular symptomatology or the late onset of the first signs. When a lesion of the aorta was suspected, an arteriography, angioscanner or peroperative exploration led to diagnosis. Neurological signs were frequent (10 cases including 8 with paraplegia) and generally related to ischaemia of the peripheral nerves. They may lead to denate from the diagnosis of vascular lesions. Fractures of the intima (17 cases) was the most frequent aortic lesion which also involved fracture of the media in a number of cases. Dissection was associated in 7 cases and complete or partial thrombosis of the aorta in 7. False aneurysms observed in 6 cases are the usual pathological form in cases of late diagnosis. Nearly all of the lesions were subrenal. Damage to abdominal organs was frequently observed.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7989410

  8. A comparison of hip guidance with reciprocating gait orthoses in children with spinal paraplegia: results of a ten-year prospective study.

    PubMed

    Robb, J E; Gordon, L; Ferguson, D; Dunhill, Z; Elton, R A; Minns, R A

    1999-12-01

    Twenty-two children with spinal paraplegia were entered into a prospective randomised study to assess the efficacy of two reciprocating orthoses and to identify any prognostic factors that might affect continuing use of the devices. Thirteen received a hip guidance orthosis (HGO) and nine a reciprocating gait orthosis (RGO). They were followed for a mean of ten years. At one year follow-up there were three statistically significant differences between the two groups at the 5% level: repairs were commoner in the RGO group, the RGO group improved in their ability to walk over difficult outdoor surfaces and the HGO group improved more in their ability to rise from a sitting to standing position. At one year follow-up there was a positive parental and child's view of the benefits of the orthoses, but by ten years only 24% of the patients were still using the orthoses. We were not able to show any definite advantage of one device over the other or any statistically significant prognostic factors for walking in the longer term with a reciprocating orthosis. We question whether or not the routine provision of these types of orthosis is justifiable when it appears that, in the longer term, the patients we studied preferred wheelchair mobility. PMID:10661784

  9. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

    PubMed Central

    Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnès; Martin, Elodie; Bouteiller, Delphine; Orlando, Laurent; Gyapay, Gabor; El-Hachimi, Khalid H; Zimmerman, Batel; Gamliel, Moriya; Misk, Adel; Lerer, Israela; Brice, Alexis; Durr, Alexandra; Stevanin, Giovanni

    2012-01-01

    The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the SPG30 chromosomal region on chromosome 2q37.3 in two patients from the original linked family. In addition, wide genome scan and candidate gene analysis were performed in a second family of Palestinian origin. We identified a single homozygous mutation, p.R350G, that was found to cosegregate with the disease in the SPG30 kindred and was absent in 970 control chromosomes while affecting a strongly conserved amino acid at the end of the motor domain of KIF1A. Homozygosity and linkage mapping followed by mutation screening of KIF1A allowed us to identify a second mutation, p.A255V, in the second family. Comparison of the clinical features with the nature of the mutations of all reported KIF1A families, including those reported recently with hereditary sensory and autonomic neuropathy, suggests phenotype–genotype correlations that may help to understand the mechanisms involved in motor neuron degeneration. We have shown that mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families. In published families, the nature of the KIF1A mutations seems to be of good predictor of the underlying phenotype and vice versa. PMID:22258533

  10. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

    PubMed

    Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnès; Martin, Elodie; Bouteiller, Delphine; Orlando, Laurent; Gyapay, Gabor; El-Hachimi, Khalid H; Zimmerman, Batel; Gamliel, Moriya; Misk, Adel; Lerer, Israela; Brice, Alexis; Durr, Alexandra; Stevanin, Giovanni

    2012-06-01

    The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the SPG30 chromosomal region on chromosome 2q37.3 in two patients from the original linked family. In addition, wide genome scan and candidate gene analysis were performed in a second family of Palestinian origin. We identified a single homozygous mutation, p.R350G, that was found to cosegregate with the disease in the SPG30 kindred and was absent in 970 control chromosomes while affecting a strongly conserved amino acid at the end of the motor domain of KIF1A. Homozygosity and linkage mapping followed by mutation screening of KIF1A allowed us to identify a second mutation, p.A255V, in the second family. Comparison of the clinical features with the nature of the mutations of all reported KIF1A families, including those reported recently with hereditary sensory and autonomic neuropathy, suggests phenotype-genotype correlations that may help to understand the mechanisms involved in motor neuron degeneration. We have shown that mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families. In published families, the nature of the KIF1A mutations seems to be of good predictor of the underlying phenotype and vice versa. PMID:22258533

  11. Genetics Home Reference: Spastic paraplegia type 7

    MedlinePLUS

    ... proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures ... there is a mutation in paraplegin, the m-AAA protease cannot function correctly. Nonfunctional m-AAA proteases ...

  12. Paraplegia after lumbosacral nerve root block

    Microsoft Academic Search

    John K Houten; Thomas J Errico

    2002-01-01

    Background context: Lumbar nerve root blocks and epidural steroid injections are frequently employed in the management of degenerative conditions of the lumbar spine, but relatively few papers have been published that address the complications associated with these interventions. Serious complications include epidural abscess, arachnoiditis, epidural hematoma, cerebrospinal fluid fistula and hypersensitivity reaction to injectate. Although transient paraparesis has been described

  13. Genetics Home Reference: Spastic paraplegia type 4

    MedlinePLUS

    ... protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and ...

  14. Genetics Home Reference: Spastic paraplegia type 15

    MedlinePLUS

    ... This protein is important in a process called autophagy, in which worn-out cell parts and unneeded ... As a result, functional autophagosomes are not produced, autophagy cannot occur, and recycling of materials within cells ...

  15. Paraplegia after lumbosacral nerve root block: report of three cases

    Microsoft Academic Search

    John K. Houten; Thomas J. Errico

    Background context: Lumbar nerve root blocks and epidural steroid injections are frequently employed in the management of degenerative conditions of the lumbar spine, but relatively few papers have been published that address the complications associated with these interventions. Serious complications in- clude epidural abscess, arachnoiditis, epidural hematoma, cerebrospinal fluid fistula and hypersensitivity reaction to injectate. Although transient paraparesis has been

  16. Multiple intradural extramedullary tumours presenting with paraplegia after trauma

    Microsoft Academic Search

    Guive Sharifi; Mehran Mortaz; Babak Parsaei

    2009-01-01

    Intraspinal nerve-sheath tumours are generally slow growing and are diagnosed after causing symptoms such as back pain and\\u000a progressive neurological symptoms. We present a rare example of multiple schwannomas located in the thoracolumbar spine in\\u000a a previously asymptomatic patient who developed severe neurological deficits after a motor-vehicle accident. The exact mechanism\\u000a of neurological compromise in this patient remains unclear. Circulatory

  17. Corticospinal reorganization after locomotor training in a person with motor incomplete paraplegia.

    PubMed

    Hajela, Nupur; Mummidisetty, Chaithanya K; Smith, Andrew C; Knikou, Maria

    2013-01-01

    Activity-dependent plasticity as a result of reorganization of neural circuits is a fundamental characteristic of the central nervous system that occurs simultaneously in multiple sites. In this study, we established the effects of subthreshold transcranial magnetic stimulation (TMS) over the primary motor cortex region on the tibialis anterior (TA) long-latency flexion reflex. Neurophysiological tests were conducted before and after robotic gait training in one person with a motor incomplete spinal cord injury (SCI) while at rest and during robotic-assisted stepping. The TA flexion reflex was evoked following nonnociceptive sural nerve stimulation and was conditioned by TMS at 0.9 TA motor evoked potential resting threshold at conditioning-test intervals that ranged from 70 to 130 ms. Subthreshold TMS induced a significant facilitation on the TA flexion reflex before training, which was reversed to depression after training with the subject seated at rest. During stepping, corticospinal facilitation of the flexion reflex at early and midstance phases before training was replaced with depression at early and midswing followed by facilitation at late swing after training. These results constitute the first neurophysiologic evidence that locomotor training reorganizes the cortical control of spinal interneuronal circuits that generate patterned motor activity, modifying spinal reflex function, in the chronic lesioned human spinal cord. PMID:23484130

  18. Regression of vasomotor disorders under intrathecal baclofen in a case of spastic paraplegia

    Microsoft Academic Search

    G Rode; P Mertens; C Beneton; M Schmitt; D Boisson

    1999-01-01

    Continuous intrathecal baclofen infusion via a subcutaneously implanted programmable pump has been used in the treatment of severe spasticity. Improvement classically concerns the neurological (hypertonia, spasms, hyperreflexia), urological (bladder function) and other clinically relevant outcomes, such as functional status of daily living. This short note reports on another effect of intrathecal baclofen on vasomotor disorders and cyanosis in the lower

  19. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family

    Microsoft Academic Search

    Ulrich Dillmann; Günther Heide; Bettina Dietz; Elemer Teshmar; Klaus Schimrigk

    1997-01-01

    We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic\\u000a gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of\\u000a vision developed. At the time of our examination, both siblings showed severe weakness and atrophy of the distal muscles of\\u000a legs and arms. Tendon jerks

  20. Survival on maintenance dialysis in patients with chronic renal failure associated with paraplegia and quadriplegia

    Microsoft Academic Search

    M K Mirahmadi; N D Vaziri; M Ghobadi; B Nikakhtar; S Gordon

    1982-01-01

    Forty men with end-stage renal failure associated with spinal cord injury were treated with maintenance hemodialysis. There were 28 paraplegic and 12 quadriplegic patients. Survival on dialysis was significantly shorter in quadriplegics (5.5 + 5.0 months) than paraplegics (22.9 ± 27.0 months). The cumulative 1- and 2-year survival in paraplegics were 60 per cent and 52 per cent respectively. The

  1. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia

    Microsoft Academic Search

    Alice Poisson; Ashok Vasdev; Francis Brunelle; Henri Plauchu; Sophie Dupuis-Girod

    2009-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by recurrent epistaxis, cutaneous\\u000a telangiectasia, and visceral arteriovenous malformations (AVM). Of these, spinal AVM is a rare manifestation that concerns\\u000a mainly children. In this report, we describe two cases of spinal AVM revealed by acute paraparesis due to subarachnoid hemorrhage\\u000a in children with HHT and reviewed the literature on spinal

  2. Performance evaluation of a lower limb exoskeleton for stair ascent and descent with paraplegia.

    PubMed

    Farris, Ryan J; Quintero, Hugo A; Goldfarb, Michael

    2012-01-01

    This paper describes the application of a powered lower limb exoskeleton to aid paraplegic individuals in stair ascent and descent. A brief description of the exoskeleton hardware is provided along with an explanation of the control methodology implemented to allow stair ascent and descent. Tests were performed with a paraplegic individual (T10 complete injury level) and data is presented from multiple trials, including the hip and knee joint torque and power required to perform this functionality. Joint torque and power requirements are summarized, including peak hip and knee joint torque requirements of 0.75 Nm/kg and 0.87 Nm/kg, respectively, and peak hip and knee joint power requirements of approximately 0.65 W/kg and 0.85 W/kg, respectively. PMID:23366287

  3. Metastatic cystosarcoma phyllodes associated with paraplegia: an uncommon complication of an uncommon tumor.

    PubMed

    Jones, A A; Rizzolo, S J; Cotler, J M; Star, A M; Slemmer, R

    1993-02-01

    Cystosarcoma phyllodes is a rare form of breast cancer that rarely metastasizes. This case represents the first reported case of a pathological spine fracture and neurologic injury as a result of metastatic cystosarcoma phyllodes. Physicians should be aware of a recently identified histological subtype of cystosarcoma that exhibits an increased incidence of hematogenous metastasis. PMID:8382543

  4. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

    E-print Network

    Hensiek, Anke; Kirker, Stephen; Reid, Evan

    2014-12-06

    involvement, peripheral motor axonopathy and extrapyra- midal features including parkinsonism. SPG11/15 muta- tions are associated with relatively severe gait involvement and patients often eventually require a wheelchair. It is important to note that a thin... of muscle stiffness, pain, spasms and cramps, tripping over their toes due to weakness of ankle dorsiflexion and hip flexion, loss of balance, effortful walking and progressively more flexed standing posture. Eventually, walking becomes impossible for some...

  5. The use of selective electrical stimulation of the quadriceps to improve standing function in paraplegia

    Microsoft Academic Search

    James P. Uhlir; Ronald J. Triolo; Rudi Kobetic

    2000-01-01

    Persons with spinal cord injury (SCI) can benefit significantly from functional neuromuscular stimulation (FNS) systems for standing if manual tasks can be performed while upright. Using FNS to sufficiently activate the knee extensors to rise from a sitting position often results in inadvertent activation of the rectus femoris and\\/or sartorius, which flex the hip. In this study, intramuscular electrodes implanted

  6. PARAPLEGIA: THE IMPLANTABLE PRAXIS FES-24B SYSTEM FOR MULTIFUNCTIONAL RESTORATION

    Microsoft Academic Search

    Ross Davis; Thierry Houdayer; Andrew Barriskill; Zoran Milijasevic; Brian Andrews

    SUMMARY Neopraxis Pty. Ltd. (Lane Cove, N.S.W., Australia) is manufacturing the new implantable Praxis FES24-B System to provide multiple benefits to suitable paraplegic users: Bladder Control, Upright Functional Mobility, Pressure Relief and Lower Extremity Exercise. The implant achieves these functions through epineural stimulation of nerves in the legs, the medial lumbar region, the sacrum and the conus medullaris. A body

  7. RESTORATION OF STANDING-UP MOTION WITH HYBRID FES IN COMPLETE PARAPLEGIA

    Microsoft Academic Search

    T. Matsunaga; Y. Shimada; E. Itoi; T. Minato; H. Ito; T. Sakuraba; M. Sato; S. Chida; K. Hatakeyama; K. Iizuka

    Objective- To evaluate the standing-up motion with hybrid FES in complete paraplegic patients. Methods- Three complete paraplegic patients volunteered for this study. Stimulation patterns were obtained from the trapezoidal-approximating data of the integrated EMG from the standing-up motion in healthy volunteers, and entered into the portable computer. The paraplegic patients wearing the ankle-foot-orthosis were asked to stand-up from a wheelchair

  8. The Standomobile: a new, electrically powered, mobile stand up device for use in paraplegia. Case report.

    PubMed

    van den Berg, J P; den Ouden, A; Stam, H J

    1994-03-01

    In this case study a specially designed electrically powered mobile stand up device, for a patient with a complete spinal cord lesion under cervical level C7, is described. It has proved to be satisfactory in a flower nursery, where both sitting and standing work is done. It is a usable aid to help patients to return to their work environment. PMID:8008426

  9. Interference of Different Types of Seats on Postural Control System during a Forward-Reaching Task in Individuals with Paraplegia

    ERIC Educational Resources Information Center

    de Abreu, Daniela Cristina Carvalho; Takara, Kelly; Metring, Nathalia Lopes; Reis, Julia Guimaraes; Cliquet, Alberto, Jr.

    2012-01-01

    We aimed to evaluate the influence of different types of wheelchair seats on paraplegic individuals' postural control using a maximum anterior reaching test. Balance evaluations during 50, 75, and 90% of each individual's maximum reach in the forward direction using two different cushions on seat (one foam and one gel) and a no-cushion condition…

  10. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

    Microsoft Academic Search

    Eun Sil Lee; Han Ku Moon; Yong Hoon Park; James Garbern; Grace M. Hobson

    2004-01-01

    Pelizaeus–Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder resulting from mutation of the proteolipid protein gene (PLP1). Clinical features of PMD include progressive psychomotor developmental delay, nystagmus, spastic quadriplegia, dystonia, and cerebellar ataxia.PMD is clinically classified into three subtypes according to the severity of the disease: connatal, transitional, and classic forms. Patients with PMD have been identified with duplication,

  11. A Preliminary Neuropsychological Study Of The Incidence Of Head Injury And Its Patterns In Spinal Cord Injured Patients (paraplegia, Cognitive Flexibility, Quadriplegia, Memory, Attention\\/concentration)

    Microsoft Academic Search

    David Michael Schwartz

    1985-01-01

    The purpose of this research was to determine if there was evidence of brain impairment in spinal cord injured patients. Further, if there was evidence of brain impairment, the purpose was to determine the areas of functioning that were particularly susceptible to damage. A brief neuropsychological screening battey was compiled, consisting of validated and reliable neuropsychological assessment instruments and administered

  12. Comparative shoulder kinematics during free standing, standing depression lifts and daily functional activities in persons with paraplegia: considerations for shoulder health

    Microsoft Academic Search

    L M Riek; P M Ludewig; D A Nawoczenski

    2008-01-01

    Study design:Case series; nonparametric repeated-measures analysis of variance.Objective:To compare and contrast three-dimensional shoulder kinematics during frequently utilized upper extremity weight-bearing activities (standing depression lifts used in brace walking, weight-relief raises, transfers) and postures (sitting rest, standing in a frame) in spinal cord injury (SCI).Setting:Movement Analysis Laboratory, Department of Physical Therapy, Ithaca College, Rochester, NY, USA.Methods:Three female and two male subjects

  13. Spinal cord compression due to primary intramedullary tuberculoma of the spinal cord presenting as paraplegia: A case report and literature review

    PubMed Central

    Mishra, Sudhansu Sekhar; Das, Deepak; Das, Srikanta; Mohanta, Itibrata; Tripathy, Soubhagya Ranjan

    2015-01-01

    Background: Spinal cord compression can be due to various causes but spinal intramedullary tuberculoma is a rare cause. We report a case that had an intramedullary spinal cord tuberculomas in which the diagnosis was made histologically, without evidence of symptoms of systemic tuberculosis. This lesion, located in the thoracic region, mimicked as an intramedullary tumor radiologically. Case Description: The patient was a 25-year-old male who presented with a history of progressive paraparesis. Initial diagnosis was made as an intramedullary tumor by magnetic resonance imaging (MRI). The treatment of the patient involved is complete surgical excision of intramedullary lesion followed by appropriate antituberculous therapy. Postoperatively, his neurological symptoms were dramatically improved. With combination of both surgical and medical treatments, excellent clinical outcome was obtained. Conclusion: This case illustrates the risk of misdiagnosis and the importance of histological confirmation of a pathological lesion as spinal cord tuberculoma prior to surgical therapy, which should be kept in mind as a differential diagnosis of the intramedullary spinal cord tumors. PMID:25883834

  14. 16 CFR 1207.1 - Scope, purpose, and findings.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard...

  15. 16 CFR 1207.1 - Scope, purpose, and findings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard...

  16. 16 CFR 1207.1 - Scope, purpose, and findings.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard...

  17. 16 CFR 1207.1 - Scope, purpose, and findings.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard...

  18. Genetics Home Reference: Troyer syndrome

    MedlinePLUS

    ... treatment providers. Gene Review: Hereditary Spastic Paraplegia Overview Gene Review: Troyer Syndrome Genetic Testing Registry: Troyer syndrome Spastic Paraplegia Foundation, Inc.: Treatments and Therapies You might also find information on the diagnosis ...

  19. Pulmonary function survey in spinal cord injury: Influences of smoking and level and completeness of injury

    Microsoft Academic Search

    P. L. Almenoff; A. M. Spungen; M. Lesser; W. A. Bauman

    1995-01-01

    Spirometry was performed on 165 subjects with spinal cord injury (84 with quadriplegia and 81 with paraplegia). Subjects were characterized by level of lesion as: high quadriplegia (HQ, C4 and above not requiring mechanical ventilation), low quadriplegia (LQ, C5–8), high paraplegia (HP, T1–7), and low paraplegia (LP, T8–L3). Thirty-nine subjects had complete motor lesions, and 126 had incomplete motor lesions.

  20. 38 CFR 17.44 - Hospital care for certain retirees with chronic disability (Executive Orders 10122, 10400 and...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ...psychiatric disorders, poliomyelitis with residuals, neurological disabilities, diseases of the nervous system, severe injuries to the nervous system, including quadriplegia, hemiplegia and paraplegia, tuberculosis, blindness and...

  1. 38 CFR 17.44 - Hospital care for certain retirees with chronic disability (Executive Orders 10122, 10400 and...

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ...psychiatric disorders, poliomyelitis with residuals, neurological disabilities, diseases of the nervous system, severe injuries to the nervous system, including quadriplegia, hemiplegia and paraplegia, tuberculosis, blindness and...

  2. 38 CFR 17.44 - Hospital care for certain retirees with chronic disability (Executive Orders 10122, 10400 and...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ...psychiatric disorders, poliomyelitis with residuals, neurological disabilities, diseases of the nervous system, severe injuries to the nervous system, including quadriplegia, hemiplegia and paraplegia, tuberculosis, blindness and...

  3. 38 CFR 17.44 - Hospital care for certain retirees with chronic disability (Executive Orders 10122, 10400 and...

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ...psychiatric disorders, poliomyelitis with residuals, neurological disabilities, diseases of the nervous system, severe injuries to the nervous system, including quadriplegia, hemiplegia and paraplegia, tuberculosis, blindness and...

  4. 38 CFR 17.44 - Hospital care for certain retirees with chronic disability (Executive Orders 10122, 10400 and...

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ...psychiatric disorders, poliomyelitis with residuals, neurological disabilities, diseases of the nervous system, severe injuries to the nervous system, including quadriplegia, hemiplegia and paraplegia, tuberculosis, blindness and...

  5. Accommodation Information by Disability

    MedlinePLUS

    ... Migraine Headaches Multiple Chemical Sensitivity or Environmental Illness Multiple Sclerosis Muscular Dystrophy Myasthenia Gravis O Obesity One Hand Use P Paraplegia Parkinson's Disease Personality Disorders Photosensitivity Post-Polio Syndrome Post-Traumatic Stress Disorder ...

  6. Genetics Home Reference: Silver syndrome

    MedlinePLUS

    ... with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs ... inherit ; inherited ; motor ; mutation ; nervous system ; paraplegia ; penetrance ; pes cavus ; prevalence ; protein ; sign ; spasticity ; syndrome You may ...

  7. Journal of Neuroscience Methods 162 (2007) 198205 In vivo assay of presynaptic microtubule cytoskeleton

    E-print Network

    Broadie, Kendal S.

    2007-01-01

    ) and Fragile X Syndrome (FXS). However, previous studies have been restricted to indirect assays of synaptic neurological diseases, including Fragile X Syndrome (FXS) and Hereditary Spastic Paraplegia (HSP) (Huot et al

  8. Dean J. Kriellaars, Ph.D Associate Professor

    E-print Network

    Manitoba, University of

    's guide for people with paraplegia. ISBN 1-896723-00-4 B. Loveridge, L. Tymchyshyn, H. Rempel, M. Mahon, H with quadriplegia. ISBN 1-896723-02-0 evelopment and Commercialization - Wheelchair ergometer - exercise

  9. Spinal cord dysfunction complicating meningococcal meningitis

    Microsoft Academic Search

    J. Khan; I. Altafullah; M. Ishaq

    1990-01-01

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

  10. Abstract--A new system for gait restoration by electrical stimulation is presented. The system combines electrical

    E-print Network

    Durfee, William K.

    ]. Nevertheless, such systems which enable standing and walking near a wheelchair provide those with paraplegia regions of the spinal cord [1]. For individuals affected with SCI, wheelchair remains the tool

  11. 5 CFR 831.1209 - Termination of disability annuity because of restoration to earning capacity.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...perform the duties of the occupation or business. Examples of such disabilities include blindness, paraplegia, multiple sclerosis, and cerebral hemorrhage. Claims involving transportation or equipment may be deducted only in the amount...

  12. 5 CFR 831.1209 - Termination of disability annuity because of restoration to earning capacity.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...perform the duties of the occupation or business. Examples of such disabilities include blindness, paraplegia, multiple sclerosis, and cerebral hemorrhage. Claims involving transportation or equipment may be deducted only in the amount...

  13. 5 CFR 831.1209 - Termination of disability annuity because of restoration to earning capacity.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...perform the duties of the occupation or business. Examples of such disabilities include blindness, paraplegia, multiple sclerosis, and cerebral hemorrhage. Claims involving transportation or equipment may be deducted only in the amount...

  14. A quantitative study of humeral cartilage in individuals with spinal cord injury

    Microsoft Academic Search

    H Ruckstuhl; J Krzycki; N Petrou; B Vanwanseele; E Stussi

    2008-01-01

    Study design:Cross-sectional design.Objectives:In this in vivo study, we investigated the influence of different load situations on humeral cartilage thickness in individuals with paraplegia and quadriplegia.Setting:ETH Zurich and Swiss Paraplegic Centre Nottwil, Switzerland.Methods:A previously validated three-dimensional (3D) gradient echo MRI-sequence with selective water excitation was used. Three groups were compared: individuals with paraplegia with high shoulder demand (n=11), individuals with quadriplegia

  15. FES of lower extremities: Comparison of rehabilitation strategies and stimulation equipment in patients with upper \\/ lower motor neuron lesion

    Microsoft Academic Search

    Bijak M; Hofer C; Rakos M; Kern H; Mayr W

    2006-01-01

    http:\\/\\/www.meduniwien.ac.at\\/zbmtp\\/bmt\\/ Abstract Functional Electrical Stimulation (FES) of lower extremities in patients suffering from paraplegia can be used to restore standing up from the wheelchair, standing, walking \\/ stepping and sitting down. Usually only patients with an intact lower motor neuron (spastic paraplegia) can benefit while patients with flaccid paralysis are excluded due to the inexistent or very weak force response

  16. Hybrid functional electrical stimulation for energy-efficient restoration of standing-up motion

    Microsoft Academic Search

    Seiya Miyamoto; Yoichi Shimada; Kozo Sato; Hitoshi Kagaya; Toshiki Matsunaga; Goro Obinata

    1999-01-01

    Objective: To find the most energy-efficient standing-up motion for quadriceps and to restore that motion in a person with complete paraplegia by using hybrid functional electrical stimulation.Design: Nonrandomized control trial.Setting: A referral center and institutional practice providing outpatient care.Participants: Twenty-nine volunteer samples were used to collect normal data. One patient with complete paraplegia received treatment for the restoration of standing-up

  17. Psychosocial outcomes among youth with spinal cord injury by neurological impairment.

    PubMed

    Riordan, Anne; Kelly, Erin H; Klaas, Sara J; Vogel, Lawrence C

    2015-01-01

    Objective Examine psychosocial outcomes of youth with spinal cord injury (SCI) as a function of neurological level (paraplegia/tetraplegia) and severity (American Spinal Injury Association (ASIA) Impairment Scale (AIS)). Design Survey research. Setting Three pediatric SCI specialty centers in the USA. Participants Youth with SCI ages 5-18 with neurological impairment classifications of: tetraplegia AIS ABC (tetraplegia ABC), paraplegia AIS ABC (paraplegia ABC), or AIS D. Outcome Measures Children's Assessment of Participation and Enjoyment, Pediatric Quality of Life Inventory, Revised Children's Manifest Anxiety Scale, and Children's Depression Inventory. Results Three hundred and forty youth participated; 57% were male; 60% were Caucasian, 21% Hispanic, 7% African-American, 2% Native American, and 3% reported "other". Their mean age was 8.15 years (standard deviation (SD) = 5.84) at injury and 13.18 years (SD = 3.87) at interview. Ninety-six youth (28%) had tetraplegia ABC injuries, 191 (56%) paraplegia ABC injuries, and 53 (16%) AIS D injuries. Neurological impairment was significantly related to participation and quality of life (QOL). Specifically, youth with paraplegia ABC and AIS D injuries participated in more activities than youth with tetraplegia ABC (P = 0.002; P = 0.018, respectively) and youth with paraplegia ABC participated more often than youth with tetraplegia ABC (P = 0.006). Youth with paraplegia ABC reported higher social QOL than youth with tetraplegia ABC (P = 0.001) and AIS D injuries (P = 0.002). Groups did not differ regarding mental health. Conclusion Interventions should target youth with tetraplegia ABC, as they may need support in terms of participation, and both youth with tetraplegia ABC and AIS D injuries in terms of social integration. PMID:24621027

  18. Comparison of neck and upper-limb muscle activities between able-bodied and paraplegic individuals during wheelchair propulsion on the ground

    PubMed Central

    Kim, Sang Jin; Park, So Hyun; Lee, Chang-Ryeol

    2015-01-01

    [Purpose] This study compared the muscle activities of the neck and upper-limb muscles between able-bodied individuals and persons with paraplegia during wheelchair propulsion on the ground. [Subjects and Methods] The muscle activities of the neck and upper-limb muscles of 8 normal individuals and 8 individuals with paraplegia were analyzed during wheelchair propulsion. The activities of the latissimus dorsi, pectoralis major, anterior/posterior deltoids, triceps brachii, extensor carpi radialis, and sternocleidomastoid muscles were assessed. [Results] The paraplegic group showed significantly higher sternocleidomastoid activity than the normal group. Latissimus dorsi activity was also higher in the paraplegia group than in the normal group, but the difference was not significant. There were no significant differences in the other muscle activities between groups. [Conclusion] Paraplegic patients tend to use the sternocleidomastoid and latissimus dorsi muscles with greater degrees of activity. Therefore, physiotherapists should not overlook the treatment of these muscles for paraplegic patients who are long-term wheelchair users.

  19. Multimodal MRI-Based Study in Patients with SPG4 Mutations

    PubMed Central

    Rezende, Thiago J. R.; de Albuquerque, Milena; Lamas, Gustavo M.; Martinez, Alberto R. M.; Campos, Brunno M.; Casseb, Raphael F.; Silva, Cynthia B.; Branco, Lucas M. T.; D'Abreu, Anelyssa; Lopes-Cendes, Iscia; Cendes, Fernando; França, Marcondes C.

    2015-01-01

    Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known. Therefore, our objective is to identify regions of the central nervous system damaged in patients with SPG4-HSP using a multi-modal neuroimaging approach. In addition, we aimed to identify possible clinical correlates of such damage. Eleven patients (mean age 46.0 ± 15.0 years, 8 men) with molecular confirmation of hereditary spastic paraplegia, and 23 matched healthy controls (mean age 51.4 ± 14.1years, 17 men) underwent MRI scans in a 3T scanner. We used 3D T1 images to perform volumetric measurements of the brain and spinal cord. We then performed tract-based spatial statistics and tractography analyses of diffusion tensor images to assess microstructural integrity of white matter tracts. Disease severity was quantified with the Spastic Paraplegia Rating Scale. Correlations were then carried out between MRI metrics and clinical data. Volumetric analyses did not identify macroscopic abnormalities in the brain of hereditary spastic paraplegia patients. In contrast, we found extensive fractional anisotropy reduction in the corticospinal tracts, cingulate gyri and splenium of the corpus callosum. Spinal cord morphometry identified atrophy without flattening in the group of patients with hereditary spastic paraplegia. Fractional anisotropy of the corpus callosum and pyramidal tracts did correlate with disease severity. Hereditary spastic paraplegia is characterized by relative sparing of the cortical mantle and remarkable damage to the distal portions of the corticospinal tracts, extending into the spinal cord. PMID:25658484

  20. Video-assisted Thoracic Surgery for Ewing's Sarcoma of the Mediastinum in a 3-year-old Girl

    Microsoft Academic Search

    Kiyoshi Koizumi; Shuji Haraguchi; Iwao Mikami; Hirotoshi Kubokura; Daisuke Okada; Shigeki Yamagishi; Hiroyasu Kinoshita; Yutaka Enomoto; Kazuo Shimizu; Miho Maeda

    We report of the experience of video-assisted thoracic surgery (VATS) for a Ewing's sarcoma at the posterior mediastinum in a 3 year old girl. The patient developed common cold like symp- toms and developed rapid lower limb paraplegia. A chest computed tomography (CT) showed a solid mass adjacent to the vertebrae. This was diagnosed as a Ewing's sarcoma histopathologi- cally

  1. JNERJOURNAL OF NEUROENGINEERING AND REHABILITATION

    E-print Network

    Nenadic, Zoran

    contributes to the majority of SCI health care costs. Restoring able-body-like ambulation in this patient subject with paraplegia due to SCI underwent electroencephalogram (EEG) recordings while engaged-RoGO system as prompted by computerized cues. The performance of this system was assessed with cross

  2. Automatic vs hand-controlled walking of paraplegics

    Microsoft Academic Search

    Dejan Popovi?; Milovan Radulovi?; Laszlo Schwirtlich; Novak Jaukovi?

    2003-01-01

    A rule-based control and its application in functional electrical stimulation (FES) assisted walking of subjects with paraplegia are described in this paper. The design of rules for control comprises the following two steps: (1) determination of muscle activation patterns by using a fully customized spatial (3D) model of paraplegic walking, and (2) learning of rules, that is, correlation between the

  3. Troyer syndrome revisited

    Microsoft Academic Search

    Christos Proukakis; Harold Cross; Heema Patel; Michael A. Patton; Alan Valentine; Andrew H. Crosby

    2004-01-01

    Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer

  4. Neurologic Complications in Percutaneous Nephrolithotomy

    PubMed Central

    Basiri, Abbas; Soltani, Mohammad Hossein; Kamranmanesh, Mohammadreza; Tabibi, Ali; Mohsen Ziaee, Seyed Amir; Nouralizadeh, Akbar; Sharifiaghdas, Farzaneh; Poorzamani, Mahtab; Gharaei, Babak; Ozhand, Ardalan; Lashay, Alireza; Ahanian, Ali; Aminsharifi, Alireza; Sichani, Mehrdad Mohammadi; Asl-Zare, Mohammad; Ali Beigi, Faramarz Mohammad; Najjaran, Vahid; Abedinzadeh, Mehdi

    2013-01-01

    Purpose Percutaneous nephrolithotomy (PCNL) has been the preferred procedure for the removal of large renal stones in Iran since 1990. Recently, we encountered a series of devastating neurologic complications during PCNL, including paraplegia and hemiplegia. There are several reports of neurologic complications following PCNL owing to paradoxical air emboli, but there are no reports of paraplegia following PCNL. Materials and Methods We retrospectively reviewed the medical records of patients who had undergone PCNL in 13 different endourologic centers and retrieved data related to neurologic complications after PCNL, including coma, paraplegia, hemiplegia, and quadriplegia. Results The total number of PCNL procedures in these 13 centers was 30,666. Among these procedures, 11 cases were complicated by neurologic events, and four of these cases experienced paraplegia. All events happened with the patient in the prone position with the use of general anesthesia and in the presence of air injection. There were no reports of neurologic complications in PCNL procedures performed with the patient under general anesthesia and in the prone position and with contrast injection. Conclusions It can be assumed that using room air to opacify the collecting system played a major role in the occurrence of these complications. Likewise, the prone position and general anesthesia may predispose to these events in the presence of air injection. PMID:23526482

  5. Therapeutic interventions after spinal cord injury

    Microsoft Academic Search

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

    2006-01-01

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

  6. [Spinal cord compression caused by spinal aneurysmal bone cyst (author's transl)].

    PubMed

    Steimlé, R; Pageaut, G; Jacquet, G; Gehin, P; Sexe, C B

    1975-01-01

    Spinal aneurysmal bone cyst is sufficiently rare for the authors to report this case with rapid evolution and development of paraplegia. Total removal was achieved, and clinical recovery remained complete six months after operation. The pathogenic, clinical, radiological, histological and therapeutic aspects are briefly reviewed and discussed. PMID:1225017

  7. Comparison of Heart Rate Response to Tennis Activity between Persons with and without Spinal Cord Injuries: Implications for a Training Threshold

    ERIC Educational Resources Information Center

    Barfield, J. P.; Malone, Laurie A.; Coleman, Tristica A.

    2009-01-01

    The purpose of this study was to evaluate the ability of individuals with spinal cord injury (SCI) to reach a training threshold during on-court sport activity. Monitors collected heart rate (HR) data every 5 s for 11 wheelchair tennis players (WCT) with low paraplegia and 11 able-bodied controls matched on experience and skill level (ABT).…

  8. A patient with spinal metastasis from hepatocellular carcinoma discovered from neurological findings

    Microsoft Academic Search

    Katsuyoshi Tamaki; Ichiro Shimizu; Mari Urata; Nao Kohno; Hiroshi Fukuno; Susumu Ito; Nobuya Sano

    Although spinal tumors are uncommon, they may reduce survival or cause serious functional disorders in the extremities. Metastatic spinal tumors from malignant tumors can induce symptoms of spinal cord compression, such as paraplegia, quadriplegia, and vesicorectal disturbance, which are aggravated with progression of the diseases and time. We report a patient with hepatocellular carcinoma (HCC) who was suspected of having

  9. Enhancing the Accuracy of Depression Diagnosis in Patients With Spinal Cord Injury Using Bayesian Analysis

    Microsoft Academic Search

    Daniel L. Clay; Kristofer J. Hagglund; Robert G. Frank; Timothy R. Elliott; John M. Chaney

    1995-01-01

    The accurate diagnosis of depression among patients with spinal cord injury (SCI) is critical to their rehabilitation. Overlapping symptoms of depression and SCI may obscure the diagnosis, however. It may be useful to evaluate the likelihood of the diagnosis of depression given the presence or absence of symptoms. This study compared depressive symptoms of patients with paraplegia (N =80) and

  10. The effects of upper body exercise on the physical capacity of people with a spinal cord injury: a systematic review

    Microsoft Academic Search

    Linda Valent; Annet Dallmeijer; Han Houdijk; Eelkje Talsma; Luc van der Woude

    2007-01-01

    Objective : To describe the effects of upper body training on the physical capacity of people with a spinal cord injury. Data sources : The databases of PubMed, CINAHL, Sport Discus and Cochrane were searched from 1970 to May 2006. Review methods : The keywords `spinal cord injury', `paraplegia', `tetraplegia' and `quadriplegia' were used in combination with `training'. The methodological

  11. Decreasing the gelation time of fibrin hydrogels

    Microsoft Academic Search

    C. D. Johnson; J. Zudiema; R. J. Gilbert

    2011-01-01

    Spinal cord injury (SCI) is a debilitating problem that often results in paraplegia or quadriplegia. Fibrin hydrogels can be injected into the injured cavity and fill the irregular space. Current techniques require 60 minutes to form a hydrogel. The purpose of this study was to design a fibrin biomaterial that would solidify at a faster rate. By augmenting the existing

  12. Acute spinal epidural abscess

    Microsoft Academic Search

    J. C. Peter; C. F. Kieck; J. C. De Villiers

    1992-01-01

    Twelve children under the age of 14 years were operated upon for acute epidural abscess during the period 1968–1990. Four presented with abdominal pain and tenderness, 2 with pain in the back attributed to local trauma, 3 had a sudden simultaneous onset of back pain and paraplegia, 1 developed quadriplegia after drainage of tibial osteitis, 1 was suspected of having

  13. Syndrome de l'artère mésentérique supérieure

    Microsoft Academic Search

    T. Loeb; G. Loubert; R. Morsly; J. M. Gabillet; J. Pasteyer

    1999-01-01

    The superior mesenteric artery syndrome (SMAS) is a rare complication of spine surgery. A series of four patients who experienced a SMAS after surgery for either post-traumatic quadriplegia, paraplegia or scoliosis is reported. SMAS is a condition in which the third portion of the duodenum is squeezed between the superior mesenteric artery anteriorly, and the aorta and vertebral column posteriorly.

  14. A profile of psychosexual functioning in males following spinal cord injury

    Microsoft Academic Search

    Allen J. Romeo; Richard Wanlass; Silverio Arenas

    1993-01-01

    The psychosexual functioning of 47 men with spinal cord injury was studied using the Derogatis Sexual Functioning Inventory (DSFI). Subjects with paraplegia did not differ significantly from subjects with quadriplegia on any of the scales of the DSFI. Subject groups were then aggregated, and the means across DSFI scales were compared to the means of the non-disabled DSFI normative group.

  15. Imagerie des complications neuro-orthopédiques des traumatismes graves

    Microsoft Academic Search

    J. Ezra; F. Roffi; F. Eichwald; F. Colas; S. Mokhtari; C. Le Breton; D. Safa; F. Genet; D. Mompoint; C. Vallée; R.-Y. Carlier

    2010-01-01

    Cranial and spinal trauma are a frequent cause of disability in the general population. Post-traumatic paraplegia or quadriplegia or hemiplegia from vascular injury (CVA) can lead to early complications (respiratory, cardiovascular, urinary, cutaneous, infectious…) that may have an impact on the immediate prognosis. Neurologic and orthopedic complications occur later and further impair the quality of life of patients.Orthopedic complications include:

  16. Delayed onset of ascending paralysis after thoracic aortic stent graft deployment

    Microsoft Academic Search

    Karthikeshwar Kasirajan; Bart Dolmatch; Kenneth Ouriel; Daniel Clair

    2000-01-01

    Delayed spinal cord ischemia after thoracic aortic aneurysm repair is an infrequent but devastating complication. The use of stent grafts to exclude aortic aneurysms is thought to decrease the incidence of the neurologic deficit because there is no period of significant aortic occlusion. We report a case of paraplegia that progressed to quadriplegia occurring 48 hours after the apparently successful

  17. Case report MRI of spinal intradural arachnoid cyst formation following tuberculous meningitis

    Microsoft Academic Search

    S LOLGE; A CHAWLA; J SHAH; D PATKAR; King Edward; Balabhai Nanavati

    Secondary intradural arachnoid cyst involving the spine is uncommon. It is usually secondary to trauma, haemorrhage, surgery or inflammation. We present two cases of treated tuberculous meningitis, which presented with gradual onset of quadriplegia and paraplegia, respectively. MRI revealed intradural (cervical and thoracic) arachnoid cysts (ventral and dorsal to the spinal cord) with myelomalacic cord changes. Ventral location of such

  18. Spontaneous spinal epidural hematoma

    Microsoft Academic Search

    Weiying Zhong; Haifeng Chen; Chao You; Jin Li; Yi Liu; Siqing Huang

    2011-01-01

    Spontaneous spinal epidural hematoma (SSEH) is a rare emergent condition. It may result in paraplegia, quadriplegia and even death. Prompt diagnosis and emergent decompressive surgical management have been recommended to prevent mortality and morbidity. Although several factors have been associated with prognosis, controversy remains, partly due to its rarity. Thus, the history, clinical presentation, physical examination findings, radiological images, and

  19. Cardiovascular Responses to Endotracheal Intubation in Patients with Acute and Chronic Spinal Cord Injuries

    Microsoft Academic Search

    Kyung Y. Yoo; Seong W. Jeong; Seok J. Kim; In H. Ha; JongUn Lee

    2003-01-01

    Endotracheal intubation usually causes transient hy- pertension and tachycardia. We investigated whether the cardiovascular responses to intubation change as a functionofthetimeelapsedinpatientswithspinalcord injury. One-hundred-six patients with traumatic com- plete spinal cord injury were grouped into acute and chronic groups according to the time elapsed (less than and more than 4 wk after injury) and into those with quadriplegia and paraplegia according

  20. Brain Activation Sequences Following Electrical Limb Stimulation of Normal and Paraplegic Subjects

    Microsoft Academic Search

    Andreas A. Ioannides; Lichan Liu; Ara Khurshudyan; Roger Bodley; Vahe Poghosyan; Tadahiko Shibata; Jürgen Dammers; Ali Jamous

    2002-01-01

    In current clinical practice the degree of paraplegia or quadriplegia is objectively determined with transcranial magnetic stimulation (TMS) and somatosensory-evoked potentials (SSEP). We measured the MEG signal following electrical stimulation of upper and lower limbs in two normal and three clinically complete paraplegic subjects. From the MEG signal we computed distributed estimates of brain activity and identified foci just behind

  1. A robotic extremities muscle rehabilitation system for quadriplegia

    Microsoft Academic Search

    Dongxiao Wang; Xueshan Gao; Yunhui Liu

    2011-01-01

    A novel robotic assistive rehabilitation system for both lower-limbs and upper-limbs muscle rehabilitation to general paralysis or quadriplegia and paraplegia patients has been developed. The system is featured with the ability to drive patients to do active and passive exercises which are the most important exercises for the limb weakness from early rehabilitation of the general paralysis, limb spasmodic movements

  2. Cardiovascular consequences of loss of supraspinal control of the sympathetic nervous system after spinal cord injury

    Microsoft Academic Search

    Robert W. Teasell; J. Malcolm O. Arnold; Andrei Krassioukov; Gail A. Delaney

    2000-01-01

    Teasell RW, Arnold JMO, Krassioukov A, Delaney GA. Cardiovascular consequences of loss of supraspinal control of the sympathetic nervous system after spinal cord injury. Arch Phys Med Rehabil 2000;81:506-16. Spinal cord injury (SCI) with resultant quadriplegia or high paraplegia is associated with significant dysfunction of the sympathetic nervous system. This alteration of sympathetic nervous system activity occurs as a consequence

  3. Voice-activated environmental control system for persons with disabilities

    Microsoft Academic Search

    Hua Jiang; Zhenduo Han; P. Scucces; S. Robidoux; Ying Sun

    2000-01-01

    This paper describes the design of a voice-activated environmental control system to aid persons with disabilities, particularly people with quadriplegia, paraplegia, or cerebral palsy. The system consists of a universal remote control with X10 home automation capability, a Motorola 6811 microprocessor, and an off-the-shelf voice recognition circuit

  4. PowerScan: a single-switch environmental control system for persons with disabilities

    Microsoft Academic Search

    Zhenduo Han; Hua Jiang; P. Scucces; S. Robidoux; Ying Sun

    2000-01-01

    The single switch environmental control system is a project that is geared to aid persons with disabilities such as paraplegia, and quadriplegia. This system will allow a person to have complete control over all electronic devices within their surroundings, by using a single switch

  5. Prognostic value of cortical magnetic stimulation in spinal cord injury

    Microsoft Academic Search

    C E Clarke; H Modarres-Sadeghi; J A Twomey; A A Burt

    1994-01-01

    Cortical magnetic stimulation was performed in a consecutive series of 10 patients presenting within 15 days of traumatic spinal cord injury. In those patients with complete paraplegia or quadriplegia, motor evoked potentials at presentation were absent below the level of the lesion. Six months after the injury, potentials had returned in the biceps brachii and abductor pollicis brevis muscles in

  6. The application of magnetic resonance in spinal cord disorders

    Microsoft Academic Search

    M Perovitch

    1987-01-01

    The introduction of the proton magnetic resonance imaging into clinical practice shows significant diagnostic potentials, and throws a new light on pathological changes involving the spinal cord, in particular on those related to trauma and its sequelae. The initial experience concerning the use of the proton magnetic resonance imaging in 28 patients, in whom paraplegia or quadriplegia developed following an

  7. Functional Restoration Of Precision Grip Using Slip Information Obtained From Peripheral Nerve Recordings

    Microsoft Academic Search

    J. A. Hoffer; M. Haugland; T. Sinkjaer

    1991-01-01

    We have implemented, in an experimental animal model, an approach for 'closed-loop' control of functional electrical stimulation (FES) of paralyzed muscles, in which tactile sensory information is recorded by implanted nerve cuff electrodes and fed back to the controller. This appmach may be applicable for functional restoration of motor function of upper or lower libs in quadriplegia, paraplegia or hemiplegia

  8. Ecological Factors in Rehabilitation of Patients with Severe Spinal Cord Injuries

    Microsoft Academic Search

    Romel W. Mackelprang; Dean H. Hepworth

    1988-01-01

    The psychological perspective of disability views the extent of disability as substantially determined by the availability of essential resources in the physical and social environments of people with disabilities. This article reports the findings of a study of the posthospital adjustment of individuals treated for injuries that produced paraplegia or quadriplegia. Comparisons of emotional and social adjustments were made between

  9. Posttraumatic Stress Disorder in Veterans with Spinal Cord Injury: Trauma-related Risk Factors

    Microsoft Academic Search

    Cynthia L. Radnitz; Louis Hsu; Jeffrey Willard; Lysandra Perez-Strumolo; Joanne Festa; Lynn B. Lillian; Stacey Walczak; Dennis D. Tirch; Ilana S. Schlein; Martin Binks; Charles P. Broderick

    1998-01-01

    Trauma-related risk factors for posttraumatic stress disorder (PTSD) were examined in a sample of 125 veterans with spinal cord injury. Category of injury was found to be the most consistent predictor of PTSD diagnosis and symptom severity with paraplegia predicting more PTSD symptoms than quadriplegia. The occurrence of a head injury at the time of the trauma was found to

  10. The gastrocnemius muscle flap in the correction of severe flexion contracture of the knee

    Microsoft Academic Search

    A. R. Moscona; D. Keret; N. D. Reis

    1982-01-01

    Extreme flexion contracture of the knees due to extra-articular contracture of the knee joints is a frequent deformity in catastrophic neurological lesions such as multiple sclerosis, meningomyelocoele, paraplegia, quadriplegia, and cerebral spastic paralysis. Such gross knee contractures together with the coexisting hip flexion contractures create a severe nursing problem. Adequate perineal hygiene and positioning are very difficult to achieve and

  11. Vieillissement chez les blessés médullaires

    Microsoft Academic Search

    F Beuret-Blanquart; M.-H Boucand

    2003-01-01

    Objective. – Literature review of the data on aging with spinal cord injury.Method. – Interrogation on Medline using the following keywords: aging, spinal cord injuries, paraplegia, quadriplegia, mortality, morbidity, quality of life, survival, health status.Results. – The expectation of life of the spinal cord injury patients improved even though it remains even lower than that of the general population. The

  12. Abstract 10

    Microsoft Academic Search

    John G. Gianutsos; Joan T. Gold; Michael Hutchinson; Edwin F. Richter; Jung H. Ahn; Mitchell Batavia

    2003-01-01

    Setting: Urban hospital. Patients: 12 persons with paralysis of spinal origin. Case Description: Reflex standing is induced by means of whole body vibration in persons with paralysis of spinal origin. A case series of persons who had paralysis due to spinal infection, paraplegia after traumatic injury at the thoracic and lumbar levels, or quadriplegia after cervical trauma. Subjects were 1

  13. Neurology and the kidney

    Microsoft Academic Search

    D J Burn; D Bates

    1998-01-01

    Renal failure is relatively common, but except in association with spina bifida or paraplegia it is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly affects the nervous system. The effects of kidney failure on the nervous system are more pronounced when failure is acute. In addition to the important problems related to renal

  14. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

    Microsoft Academic Search

    Alessia Errico; Pamela Claudiani; Marilena D'Addio; Elena I. Rugarli

    2004-01-01

    Hereditary spastic paraplegia (HSP) is characterized by the specific retrograde degeneration of the longest axons in the central nervous system, the corticospinal tracts. The gene most frequently involved in autoso- mal dominant cases of this disease, SPG4, encodes spastin, an ATPase belonging to the AAA family. AAA proteins are thought to exert their function by the energy-dependent rearrangement of protein

  15. Giant Terminal Lipomyelocystocele

    Microsoft Academic Search

    Deepak Kumar Gupta; Shashank Ramdurg; A. K. Mahapatra

    2006-01-01

    Terminal myelocystocele is a rare form of occult spinal dysraphism in which the hydromyelic caudal spinal cord and the subarachnoid space are herniated through a posterior spina bifida. A 1-year-old female child presented with a large lumbosacral mass (30 × 20 × 10 cm), flaccid paraplegia and urinary incontinence since birth. Magnetic resonance imaging revealed a low-lying conus (with associated

  16. Malignant pheochromocytoma.

    PubMed

    Pande, A K

    1992-03-01

    We present an interesting case of paroxysmal hypertension in a young male caused by malignant pheochromocytoma. This patient, who had history of paroxysms of abdominal pain with severe hypertension, developed osseous metastasis in the first lumbar vertebra resulting in collapse of the vertebra and it caused paraplegia. The diagnosis of pheochromocytoma was confirmed on histopathology. PMID:1563860

  17. Ataxia and paralysis in cats in Australia associated with exposure to an imported gamma-irradiated commercial dry pet food.

    PubMed

    Child, G; Foster, D J; Fougere, B J; Milan, J M; Rozmanec, M

    2009-09-01

    Between June 2008 and March 2009, 87 cats in Australia developed symmetrical hindlimb ataxia, paraparesis, tetraparesis, paraplegia or tetraplegia in association with eating an imported, irradiated dry pet food. This communication reports the clinical signs and outcomes of those cats. PMID:19703134

  18. Fetal Surgery for Myelomeningocele: Patient Selection, Perioperative Management and Outcomes

    Microsoft Academic Search

    Enrico Danzer; N. Scott Adzick

    2011-01-01

    Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Chiari II malformation (CM-II), incontinence, sexual dysfunction, skeletal deformations and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Experimental and clinical evidence suggests that the primary cause of the neurologic deficit associated with MMC is not

  19. In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial

    Microsoft Academic Search

    Enrico Danzer; Alan W. Flake

    2008-01-01

    Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not

  20. A bipedal, closed-chain dynamic model of the human lower extremities and pelvis for simulation-based development of standing and mobility neuroprostheses

    Microsoft Academic Search

    Weifeng Zhao; R. F. Kirsch; R. J. Triolo; S. Delp

    1998-01-01

    Functional neuromuscular stimulation (FNS) can allow individuals with paraplegia to perform many activities that were previously difficult or impossible from the wheelchair. FNS of muscles of the lower extremities generate the muscle forces required to rise from a chair and assume a standing posture. Users of these standing neuroprostheses typically require substantial actions by the voluntary upper extremities to provide

  1. Swimming for the Handicapped Child and Adult: Occasional Papers No. 10.

    ERIC Educational Resources Information Center

    Neishloss, Lou

    Outlined are physiological and psychological values of swimming for the handicapped, basic principles and teaching procedures for instructing physically handicapped persons, and specific suggestions for teaching swimming to persons with the following conditions; amputations, polio, paraplegia, cerebral palsy, spina bifida, Legg-Perthes Disease,…

  2. Complete absence of evening melatonin increase in tetraplegics.

    PubMed

    Verheggen, Rebecca J H M; Jones, Helen; Nyakayiru, Jean; Thompson, Andrew; Groothuis, Jan T; Atkinson, Greg; Hopman, Maria T E; Thijssen, Dick H J

    2012-07-01

    Individuals with a spinal cord injury (SCI), especially with tetraplegia, experience poor sleep quality, and this may be related to impaired control of circadian rhythmicity. Here, we examined the evening onset of melatonin secretion, an important hormone for the initiation of sleep, in people with a complete cervical (tetraplegia) and thoracic (paraplegia) SCI, and age- and sex-matched able-bodied control participants. Multiple samples of salivary melatonin were obtained during the evening hours and analyzed by ELISA methods in 10 control partcipants, 9 individuals with paraplegia, and 6 individuals with tetraplegia. Sleep quality was assessed using questionnaires. Interactive effects of group and time were found for melatonin levels (P=0.022). In the control and paraplegia groups, the mean melatonin level increased significantly from 2.59 ± 1.04 and 4.28 ± 3.28 pg/ml at 7 PM to 10.62 ± 4.59 and 13.10 ± 7.39 pg/ml at 11 PM, respectively (P<0.001). In the tetraplegia group, melatonin level was 5.25 ± 3.72 at 7 PM but only 2.41 ± 1.25 pg/ml at 11 PM (P>0.05). Decreased sleep quality was more prevalent in individuals with tetraplegia (83%) and paraplegia (75%) compared with controls (20%; P=0.02). Unlike in the control and paraplegia groups, the evening increase in melatonin concentration was completely absent in the tetraplegia group. This provides biological insight into sleep regulation in humans and provides better understanding of the poor sleep quality in people with tetraplegia. PMID:22474242

  3. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.

    PubMed

    Pierson, Tyler Mark; Simeonov, Dimitre R; Sincan, Murat; Adams, David A; Markello, Thomas; Golas, Gretchen; Fuentes-Fajardo, Karin; Hansen, Nancy F; Cherukuri, Praveen F; Cruz, Pedro; Mullikin, James C; Blackstone, Craig; Tifft, Cynthia; Boerkoel, Cornelius F; Gahl, William A

    2012-04-01

    Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All previously described families with this disorder were consanguineous, with homozygous mutations in the probands. We describe a 10-year-old male, from a non-consanguineous family, with progressive spastic paraplegia, dystonia, ataxia, and cognitive decline associated with a sural axonal neuropathy. The use of high-throughput sequencing techniques combined with SNP array analyses revealed a novel paternally derived missense mutation and an overlapping novel maternally derived ~28-kb genomic deletion in FA2H. This patient provides further insight into the consistent features of this disorder and expands our understanding of its phenotypic presentation. The presence of a sural nerve axonal neuropathy had not been previously associated with this disorder and so may extend the phenotype. PMID:22146942

  4. Simultaneous occurrence of brain tumor and myeloradiculopathy in schistosomiasis mansoni: case report.

    PubMed

    Lambertucci, José Roberto; Souza-Pereira, Silvio Roberto; Carvalho, Tânia Antunes

    2009-01-01

    Simultaneous occurrence of brain tumor and myeloradiculopathy in cases of Manson's schistosomiasis have only rarely been described. We report the case of a 38-year-old man who developed seizures during a trip to Puerto Rico and in whom a brain tumor was diagnosed by magnetic resonance imaging: brain biopsy revealed the diagnosis of schistosomiasis. He was transferred to a hospital in the United States and, during hospitalization, he developed sudden paraplegia. The diagnosis of myeloradiculopathy was confirmed at that time. He was administered praziquantel and steroids. The brain tumor disappeared, but the patient was left with paraplegia and fecal and urinary dysfunction. He has now been followed up in Brazil for one year, and his clinical state, imaging examinations and laboratory tests are presented here. PMID:19684986

  5. Os odontoideum with bipartite atlas and segmental instability: a case report

    Microsoft Academic Search

    Michael Osti; Helmut Philipp; Berthold Meusburger; Karl-Peter Benedetto

    2006-01-01

    We report on the case of a 15-year-old adolescent who presented with a transient paraplegia and hyposensibility of the upper\\u000a extremities after sustaining a minor hyperflexion trauma to the cervical spine. Neuroimaging studies revealed atlantoaxial\\u000a dislocation and ventral compression of the rostral spinal cord with increased cord signal at C1\\/C2 levels caused by an os\\u000a odontoideum, as well as anterior

  6. Body composition modifications in people with chronic spinal cord injury after supervised physical activity

    PubMed Central

    Neto, Frederico Ribeiro; Lopes, Guilherme Henrique

    2011-01-01

    Background Quantification of body composition variables is important for planning of better activities in relation to individuals with spinal cord injury (SCI). Objectives (1) To evaluate changes in body composition in patients with SCI after a supervised physical activity process; (2) To correlate total body fat with time since injury. Design Pre-post intervention. Setting Sarah Rehabilitation Hospital Network, Brazil. Participants Fifty-three men with SCI aged 18–52 years with duration of injury >3 years. Interventions The subjects were divided into three groups: tetraplegia (TT) (C5–C8), high paraplegia (HP) (T1–T6), and low paraplegia (LP) (T7–L2). Body composition was estimated in the first and last weeks of hospitalization. Outcome measures Body weight (kg), skinfolds sum (mm), absolute (kg), and relative (%) fat and lean body mass. Results Body weight increased in TT and decreased in HP (0.8 kg, 95%CI 0.1–1.5; and ?1.0 kg, 95%CI ?2.0 to 0.0, respectively; P < 0.05). Skinfolds sum decreased only in HP (?13.1 mm, 95%CI ?20.7 to ?5.5; P < 0.05). Absolute and relative body fat decreased significantly in the paraplegia groups. Lean body mass (LBM) percentage increased significantly in the paraplegia groups. Absolute LBM increased in TT and LP (0.8 kg, 95%CI 0.3–1.3; and 1.3 kg, 95%CI 0.8 to 1.8, respectively; P < 0.05). There was no correlation between time since injury and skinfolds sum for the three groups (P < 0.05). Conclusion TT, HP, and LP demonstrated favorable changes in body composition after 29 days of supervised physical activity. However, these changes were different in direction and magnitude. PMID:22330114

  7. Interaction of the SPG21 protein ACP33\\/maspardin with the aldehyde dehydrogenase ALDH16A1

    Microsoft Academic Search

    Michael C. Hanna; Craig Blackstone

    2009-01-01

    Mast syndrome (SPG21) is an autosomal-recessive complicated form of hereditary spastic paraplegia characterized by dementia,\\u000a thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic paraparesis.\\u000a A nucleotide insertion resulting in premature truncation of the SPG21 gene product acidic cluster protein 33 (ACP33)\\/maspardin underlies this disorder, likely causing loss of protein function.\\u000a However, little is

  8. Beneficial effect of the oxygen free radical scavenger amifostine (WR-2721) on spinal cord ischemia\\/reperfusion injury in rabbits

    Microsoft Academic Search

    Fany Chronidou; Efstratios Apostolakis; Ioannis Papapostolou; Konstantinos Grintzalis; Christos D Georgiou; Efstratios N Koletsis; Menelaos Karanikolas; Panagiotis Papathanasopoulos; Dimitrios Dougenis

    2009-01-01

    BACKGROUND: Paraplegia is the most devastating complication of thoracic or thoraco-abdominal aortic surgery. During these operations, an ischemia-reperfusion process is inevitable and the produced radical oxygen species cause severe oxidative stress for the spinal cord. In this study we examined the influence of Amifostine, a triphosphate free oxygen scavenger, on oxidative stress of spinal cord ischemia-reperfusion in rabbits. METHODS: Eighteen

  9. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling

    Microsoft Academic Search

    Satoru Takahashi; Yoshio Makita; Nobuhiko Okamoto; Akie Miyamoto; Junichi Oki

    1997-01-01

    Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. We examined the L1CAM mutation in a Japanese family with HSAS for the purpose of DNA-based genetic counseling. The

  10. Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome

    PubMed Central

    Cruz–Arámbulo, Robert; Nykamp, Stephanie

    2012-01-01

    A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat saturation images. PMID:22942443

  11. Interscalene Regional Anesthesia in the Prevention of Autonomic Hyperreflexia in a Quadriplegic Patient Undergoing Shoulder Surgery

    Microsoft Academic Search

    Ali Habibi; Clifford Schmeising; J. C. Gerancher

    1999-01-01

    he patient was a 23-yr-old woman who had suf- fered a cervical spinal cord injury while playing basketball at age 16 yr. Her medical history was significant for C3-4 paraplegia and paralyzed right hemidiaphragm. She had a history of repeated epi- sodes of severe right upper extremity muscle spasms that sometimes woke her from sleep. The shoulder bruising that followed

  12. Acute hind limb paralysis secondary to an extradural spinal cord Cryptococcus gattii lesion in a dog.

    PubMed

    Kurach, Lindsey; Wojnarowicz, Chris; Wilkinson, Tom; Sereda, Colin

    2013-05-01

    A 2-year-old, spayed female, German short-haired pointer was presented with a 1-day history of non-ambulatory paraplegia with absent deep pain perception. A computed tomography scan revealed an irregular eighth thoracic vertebral body and an extradural compressive lesion. Decompression was performed and abnormal tissues were submitted for analysis. Findings were consistent with a Cryptococcus gattii infection. PMID:24155428

  13. Trampoline Injuries of the Cervical Spine

    Microsoft Academic Search

    Peter G. Brown; Mark Lee

    2000-01-01

    Trampolines were responsible for over 6,500 pediatric cervical spine injuries in 1998. This represents a five-fold increase in just 10 years. While most have been minor, paraplegia, quadriplegia and death are all reported. We present 2 cases of trampoline-related cervical spine injury and review the relevant literature. Additionally, we examine the efforts made to reduce the incidence of trampoline injuries,

  14. Spinal cord compression in an adolescent with relapsed B-precursor acute lymphoblastic leukemia and mental neuropathy

    Microsoft Academic Search

    Elpis Mantadakis; Aspasia Katragkou; Eufrosini Papadaki; Stefanos Papadhimitriou; George Paterakis; Eftichia Stiakaki; Maria Kalmanti

    2008-01-01

    The authors report a case of intraspinal mass associated with recurrence of B-precursor acute lymphoblastic leukemia in an\\u000a adolescent male who presented with numb chin syndrome at initial diagnosis of the leukemia. The patient developed sensory\\u000a changes, later on motor weakness, and eventually paraplegia. An emergent MRI scan showed an intraspinal mass at the level\\u000a of T9 vertebra. Biopsy obtained

  15. The colon, anorectum, and spinal cord patient

    Microsoft Academic Search

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

    1989-01-01

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

  16. Exercise effect with the wheelchair aerobic fitness trainer on conditioning and metabolic function in disabled persons: A pilot study

    Microsoft Academic Search

    Meena Midha; James K. Schmitt; Michele Sclater

    1999-01-01

    Objective: To determine the effect of exercise with the wheelchair aerobic fitness trainer (WAFT) on anthropometric indices, conditioning, and endocrine and metabolic parameters in persons with lower extremity disability.Design: Exercise sessions with the WAFT lasted 20 to 30 minutes for two to three sessions.Setting: Tertiary-care Veterans Administration medical center.Participants: Twelve subjects (3 with quadriplegia, 7 with paraplegia, 1 with cerebrovascular

  17. Treating cerebral palsy with aculaser therapy

    Microsoft Academic Search

    Shahzad Anwar; Malik M. Nazir Khan; Malik M. Nadeem Khan; Faiza M. Qazi; Abid H. Awan; Irfan Dar

    2008-01-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness

  18. Acute spinal cord compression due to epidural lipomatosis complicated by an abscess: magnetic resonance and pathology findings

    PubMed Central

    Pipitone, Nicolò; De Carli, Nicola; Vecchia, Luigi; Bartoletti, Stefano C.

    2010-01-01

    A 68-year-old male presented with rapidly progressive paraplegia. MR images of the thoracic spine were interpreted as being consistent with an abscess within an epidural lipomatosis compressing the spinal cord. Laminectomy was performed, and a large amount of pus was drained from the epidural lipomatosis, from which Staphylococcus aureus was isolated. This is the first reported case of an abscess involving an epidural lipomatosis. PMID:20372939

  19. Delayed complications of discontinuation of intrathecal baclofen therapy: resurgence of dyssynergic voiding, which triggered off autonomic dysreflexia and hydronephrosis

    Microsoft Academic Search

    S Vaidyanathan; B M Soni; T Oo; P L Hughes; G Singh; P Mansour

    2004-01-01

    Study design: Case report.Objectives: To report insidious development of autonomic dysreflexia and hydronephrosis due to dyssynergic voiding following discontinuation of intrathecal baclofen therapy.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: A male patient with paraplegia at T-5 (ASIA-A) had implantation of Medtronic Synchromed 8615 s programmable pump to control intractable spasms. After 4 years, the baclofen pump needed replacement because of

  20. Subdural catheter migration may lead to baclofen pump dysfunction

    Microsoft Academic Search

    Y Pasquier; A Cahana; A Schnider

    2003-01-01

    Objectives: To report an unusual cause of intrathecal drug delivery failure in baclofen pump device.Study design:A case report of an SCI patient treated with intrathecal baclofen, presenting a drug withdrawal.Setting: Regional spinal cord injuries centre in Geneva (Switzerland).Methods: We present a case of a 38-year-old male with complete T9 spastic paraplegia for 15 years, treated with intrathecal baclofen for 11

  1. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

    Microsoft Academic Search

    Elena De Angelis; Alex Watkins; Michael Schäfer; Thomas Brümmendorf; Sue Kenwrick

    2002-01-01

    Mutations in the L1CAM gene cause a highly variable neurological disease described as X-linked hydrocephalus, MASA syndrome or spastic paraplegia type I. Over one-third of the mutations identified in affected boys are missense, unique to individual families and distributed primarily across the large extracellular domain of the L1 protein. We have examined the effects of 25 missense mutations on binding

  2. Metastatic squamous cell carcinoma in a cat

    Microsoft Academic Search

    Ravinder S. Dhaliwal; Eric Kufuor-Mensah

    2007-01-01

    A 7-year-old, spayed female Persian cat was referred for evaluation of progressive paraplegia. The cat was thin, cachectic and paraplegic on presentation. The survey radiographs showed a left caudal pulmonary lesion and lytic skeletal lesions at the right iliac crest and left distal scapula. Due to a poor prognosis for complete recovery, the owner opted for euthanasia. Post-mortem examination revealed

  3. Carcinoma of the prostate: remission of paraparesis with inhibitors of bone resorption.

    PubMed Central

    Percival, R. C.; Watson, M. E.; Williams, J. L.; Kanis, J. A.

    1985-01-01

    We describe a patient with metastatic carcinoma of the prostate associated with paraplegia. The patient also had Paget's disease of bone elsewhere. Because the neurological lesion was thought to be due to Paget's disease, the patient was treated with inhibitors of bone resorption. Treatment rapidly induced clinical remission and inhibition of bone resorption, and withdrawal was associated with relapse. This suggests that such agents may be of value in the treatment of bone disease of prostatic carcinoma. Images Figure 1 PMID:3160014

  4. Contemporary empyema thoracis necessitans in an adult male caused by Staphylococcus aureus: decortication is superior to traditional under water seal intercostal tube in chronic empyema

    PubMed Central

    Chaudhry, Liaqat Ali; Mousa, Ahmed A Ba; Zamzami, Marwan; Robert, Asirvatham Alwin

    2015-01-01

    Empyema thoracis necessitans is a rare clinical finding nowadays. We report 55 years old Saudi male with past history of road traffic accident, poly trauma, chest surgery and paraplegia admitted for rehabilitation in Sultan Bin Abduaziz Humanitarian City (SBAHC), Riyadh, Saudi Arabia and diagnosed with empyema thoracis necessitans due to Staphylococcus aureus, treated initially with traditional thoracostomy under water seal intercostal intubation and antibiotics but subsequently required decortication.

  5. Bone mineral status in paraplegic patients who do or do not perform standing

    Microsoft Academic Search

    S. Goemaere; M. Van Laere; P. De Neve; J. M. Kaufman

    1994-01-01

    Bone mineral density (BMD) was assessed by dual-photon X-ray absorptiometry at the lumbar spine (L3, L4), the proximal femur and the femoral shaft, and by single-photon absorptiometry at the forearm in 53 patients with complete traumatic paraplegia of at least 1 year's duration and in age- and sex-matched healthy controls. The patients did (n=38) or did not (n=15) regularly perform

  6. [Motor evoked potentials in thoracoabdominal aortic surgery].

    PubMed

    Magro, Cátia; Nora, David; Marques, Miguel; Alves, Angela Garcia

    2012-01-01

    Thoracoabdominal aortic disease (aneurysm or dissection) has increased in recent decades. Surgery is the curative treatment but is associated to high perioperative morbidity and mortality risks. Paraplegia is one of the most severe complications, whose incidence has decreased significantly with the implementation of spinal cord protection strategies. No single method or combination of methods has proven to be fully effective in preventing paraplegia. This review is intended to analyse the scientific evidence available on the role of intraoperative monitoring with motor evoked potentials in the neurological outcome of patients undergoing thoracoabdominal aortic surgery. An online search (PubMed) was conducted. Relevant references were selected and reviewed. Intraoperative monitoring with motor evoked potentials (MEP) allows early detection of ischemic events and a targeted intervention to prevent the development of spinal cord injury, significantly reducing the incidence of postoperative paraplegia. MEP monitoring may undergo several intraoperative interferences which may compromise their interpretation. Neuromuscular blockade is the main limiting factor of anesthetic origin. It is essential to strike a balance between monitoring conditions and surgical and anesthetic needs as well as to evaluate the risks and benefits of the technique for each patient. MEP monitoring improves neurological outcome when integrated in a multidisciplinary strategy which must include multiple protective mechanisms that should be tailored to each hospital reality. PMID:24490197

  7. Imaging of Vascular Remodeling Following Simulated Thoracoabdominal Aneurysm Repair

    PubMed Central

    Geisbuesch, Sarah; Schray, Deborah; Bischoff, Moritz S; Lin, Hung-Mo; Griepp1, Randall B; Di Luozzo1, Gabriele

    2012-01-01

    Objective A better understanding of the response of the spinal cord blood supply to segmental artery (SA) sacrifice should help minimize the risk of paraplegia following both open and endovascular repair of thoracoabdominal aortic aneurysms (TAAA). Methods 12 female juvenile Yorkshire pigs were randomized into three groups and perfused with a barium-latex solution. Pigs in group 1 (control) had infusion without previous intervention. Pigs in group 2 were infused 48 hours after ligation of all SAs (T4-L5), and those in group 3 at 120 hours after ligation. Post-mortem CT scanning of the entire pig enabled overall comparisons and measurement of vessel diameters in the spinal cord circulation. Results 14.5±0.8 SAs were ligated: all filled retrograde to the ligature. Paraplegia occurred in 38% of operated pigs. A significant increase in the mean diameter of the anterior spinal artery (ASA) was evident after SA sacrifice (p=<0.0001 for 48h and 120h). The internal thoracic and intercostal arteries also increased in diameter. Quantitative assessment showed an increase in vessel density 48h after ligation of SAs, reflected by an obvious increase in small collateral vessels seen on 3-D reconstructions of CT scans at 120h. Conclusions Remodeling of the spinal cord blood supply—including dilatation of the ASA and proliferation of small collateral vessels—is evident at 48 and 120 hours after extensive SA sacrifice. It is likely that exploitation of this process will prove valuable in the quest to eliminate paraplegia after TAAA repair. PMID:23010582

  8. Aculaser therapy: a comprehensive approach for the treatment of cerebral palsy

    NASA Astrophysics Data System (ADS)

    Anwar, Shahzad; Nazir Khan, Malik Muhammed; Nadeem Khan, Malik Mohammad; Munir Qazi, Faiza; Ahmed, Imtiaz; Awan, Abid Hareef

    2006-10-01

    A single, open and non comparative study was conducted at Anwar Shah's First C.P. & Paralysis Clinic and Research Center in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (CP) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, quadriplegia, paraplegia, monoplegia, sensory-neural deafness and speech disorders. In all 100 childern were treated and the data was gathered during a period of 18 months from December 2003 till June 2005. This article shows results of the treatment with ACULASER THERAPY in CP childern who were treated for minimum 6 weeks and more or had minimum of 10 treatment sessions and more. This paper also shows that those childern who were given a break in the treatment for 4-12 weeks did not show any reversal of the symptoms. These children were classified according to the associated Neurological Disorders. Analysis of the data showed that out of 81 children with Spasticity and Stiffness 69 showed marked improvement showing 85% improvement rate, out of 54 children with Epileptic fits there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 34 children showing 63% success rate, out of 18 children with Cortical Blindness 13 children showed improvement accounting for 72% efficacy rate, out of 45 children with Hearing Difficulties, 31 showed marked improvement accounting for 69% improvement rate, out of 100 children with Speech Disorders 67 showed improvement reflecting 67 % improvement rate, out of 46 children with Hemiplegia 32 showed improvement in movement, tone and power accounting for 69% improvement rate, out of 36 children with Quadriplegia 25 showed improvement in gross and fine motor functions showing 69% success rate and out of 18 children with Paraplegia of lower limbs 12 showed improvement in weight bearing, standing and movement accounting for 67% improvement rate .

  9. Shoulder Muscular Demand During Lever-Activated Vs Pushrim Wheelchair Propulsion in Persons With Spinal Cord Injury

    PubMed Central

    Requejo, Philip Santos; Lee, Sharon E; Mulroy, Sara J; Haubert, Lisa Lighthall; Bontrager, Ernest L; Gronley, JoAnne K; Perry, Jacquelin

    2008-01-01

    Background/Objective: The high demand on the upper limbs during manual wheelchair (WC) use contributes to a high prevalence of shoulder pathology in people with spinal cord injury (SCI). Lever-activated (LEVER) WCs have been presented as a less demanding alternative mode of manual WC propulsion. The objective of this study was to evaluate the shoulder muscle electromyographic activity and propulsion characteristics in manual WC users with SCI propelling a standard pushrim (ST) and LEVER WC design. Methods: Twenty men with complete injuries (ASIA A or B) and tetraplegia (C6, n = 5; C7, n = 7) or paraplegia (n = 8) secondary to SCI propelled ST and LEVER WCs at 3 propulsion conditions on a stationary ergometer: self-selected free, self-selected fast, and simulated graded resistance. Average velocity, cycle distance, and cadence; median and peak electromyographic intensity; and duration of electromyography of anterior deltoid, pectoralis major, supraspinatus, and infraspinatus muscles were compared between LEVER and ST WC propulsion. Results: Significant decreases in pectoralis major and supraspinatus activity were recorded during LEVER compared with ST WC propulsion. However, anterior deltoid and infraspinatus intensities tended to increase during LEVER WC propulsion. Participants with tetraplegia had similar or greater anterior deltoid, pectoralis major, and infraspinatus activity for both ST and LEVER WC propulsion compared with the men with paraplegia. Conclusions: Use of the LEVER WC reduced and shifted the shoulder muscular demands in individuals with paraplegia and tetraplegia. Further studies are needed to determine the impact of LEVER WC propulsion on long-term shoulder function. PMID:19086715

  10. “The Flipping Bullet” with Associated Intramedullary Dystrophic Calcification: An Unusual Cause for Migratory Myelopathy and Radiculopathy

    PubMed Central

    Hunt, Christopher H; McKenzie, Gavin A; Diehn, Felix E; Morris, Jonathan M; Wood, Christopher P

    2012-01-01

    We report the case of a 24 year old male who had a retained bullet within his thoracic spine from a gunshot wound resulting in paraplegia. After 7 months he began experiencing painful dysesthesias at his sensory level. Repeat imaging demonstrated migration of the bullet as well as the development of intramedullary dystrophic calcification associated with the bullet. This case demonstrates not only the ability for retained bullets to migrate within the spinal canal but also demonstrates they can lead to remote symptoms due to the development of dystrophic calcification. PMID:22942925

  11. Spinal Cord Compression Revealing an Intraosseous Schwannoma

    PubMed Central

    Metoui, Leila; Ajili, Faïda; Maiza, Mouna; Ben Ammar, Mehdi; Gharsallah, Imen; M'sakni, Issam; Louzir, Bassem; Othmani, Salah

    2013-01-01

    A 68-year-old female presented with inflammatory lumbalgia and cruralgia. Physical examination revealed a lumbar stiffness without neurological deficit. Secondarily, paraplegia and urinary retention appeared. Magnetic resonance imaging showed a vertebral compaction of L3 vertebra with medullar compression. Emergent surgery revealed an epidural tumor involving largely the L3 vertebral body. Histology found schwannoma with positive protein S100 on the immunohistochemical study. Metastasis screening revealed bilateral nodular lesions of the lungs and a trochanter high scintigraphic signal. It was a malignant schwannoma. The patient underwent radiotherapy in addition to the total tumor resection. PMID:24381595

  12. Spinal cord metastasis in small cell carcinoma of the lung

    SciTech Connect

    Holoye, P.; Libnoch, J.; Cox, J.; Kun, L.; Byhardt, R.; Almagro, U.; McCelland, S.; Chintapali, K.

    1984-03-01

    Among 50 patients with small cell bronchogenic carcinoma who were placed on a protocol of combined chemotherapy and radiation therapy, seven patients developed recurrence in the spinal cord. Five cases terminated in paraplegia and death. One patient with pontine recurrence recovered with local radiation therapy. One patient, diagnosed early, responded to local radiation therapy and is ambulatory. Methods of diagnosis were myelogram, computerized axial tomography, cerebro spinal fluid, chemistry and cytologies. The poor prognosis and the difficulty of diagnosis suggest that prophylactic therapy of the entire cranio-spinal axis should be evaluated.

  13. Completely Intracorporeal Robotic-Assisted Laparoscopic Ileovesicostomy

    PubMed Central

    Dolat, MaryEllen T.; Wade, Greg; Grob, B. Mayer; Hampton, Lance J.; Klausner, Adam P.

    2014-01-01

    We present a report of a completely intracorporeal robotic-assisted laparoscopic ileovesicostomy with long term follow-up. The patient was a 55-year-old man with paraplegia secondary to tropical spastic paresis resulting neurogenic bladder dysfunction. The procedure was performed using a da Vinci Surgical system (Intuitive Surgical, Sunnyvale, CA) and took 330 minutes with an estimated blood loss of 100?mL. The patient recovered without perioperative complications. He continues to have low pressure drainage without urethral incontinence over two years postoperatively. PMID:24600527

  14. Paralysis in hedgehogs (Erinaceus europaeus) associated with demyelination.

    PubMed

    Palmer, A C; Blakemore, W F; Franklin, R J; Frost, L M; Gough, R E; Lewis, J C; Macdougall, D F; O'Leary, M T; Stocker, L R

    1998-11-14

    Paraplegia affected 14 hedgehogs (Erinaceus europaeus) in a wildlife rescue hospital over a period of six months. Postmortem examination revealed demyelination in the brain and spinal cord and an inflammatory response in the meninges, choroid plexus and CNS. The peripheral nervous system was not affected. In the spleen, lungs and liver there was an accumulation of megakaryocytes and other evidence of extramedullary haemopoiesis, but there was no haematological evidence of anaemia. The pattern of disease incidence and the nature of the changes in the CNS suggest they were of viral origin, but no causal agent was isolated and the possibility of a neurotoxin cause cannot be ruled out. PMID:9854316

  15. From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families

    NASA Astrophysics Data System (ADS)

    Santos, Silvana; Bizzo, Nelio

    2005-07-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

  16. The changing pattern of spinal arachnoiditis.

    PubMed Central

    Shaw, M D; Russell, J A; Grossart, K W

    1978-01-01

    Spinal arachnoiditis is a rare condition. Eighty cases, diagnosed during a period when 7600 spinal contrast investigations were undertaken, have been reviewed. The majority had suffered a previous spinal condition, the most common being lumbar disc disease. There has been a change in the distribution of arahnoiditis with the lumbar region now most frequently involved. This accounts for the persistence of radicular symptoms and the relatively low incidence of paraplegia when compared with earlier series. Surgery does not appear to have any role in the treatment. Images PMID:632824

  17. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

    PubMed

    Lefèvre, Caroline; Bouadjar, Bakar; Ferrand, Véronique; Tadini, Gianluca; Mégarbané, André; Lathrop, Mark; Prud'homme, Jean-François; Fischer, Judith

    2006-03-01

    We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five missense mutations and two deletions were identified in a new gene, FLJ39501, on chromosome 19p12 in 21 patients from 12 consanguineous families from Algeria, France, Italy and Lebanon. FLJ39501 encodes a protein which was found to be a cytochrome P450, family 4, subfamily F, polypeptide 2 homolog of the leukotriene B4-omega-hydroxylase (CYP4F2) and could catalyze the 20-hydroxylation of trioxilin A3 from the 12(R)-lipoxygenase pathway. Further oxidation of this substrate by the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex, in which one component, ALDH3A2, is known to be mutated in Sjögren-Larsson syndrome (characterized by ichthyosis and spastic paraplegia), would lead to 20-carboxy-(R)-trioxilin A3. This compound could be involved in skin hydration and would be the essential missing product in most forms of ARCI. Its chiral homolog, 20-carboxy-(S)-trioxilin A3, could be implicated in spastic paraplegia and in the maintenance of neuronal integrity. PMID:16436457

  18. [BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration].

    PubMed

    Ito, Daisuke; Yagi, Takuya; Suzuki, Norihiro

    2011-11-01

    The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2, a condition characterized by severe lipoatrophy, insulin resistance, and hypertriglyceridemia. Whereas gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) and distal hereditary motor neuropathy type V. Detailed phenotypic analyses have revealed that upper motor neurons, lower motor neurons and peripheral motor axons are variously affected in patients with these mutations. We recently showed that the N88S and S90L mutations disrupt the N-glycosylation motif, enhance ubiquitination, and appear to result in proteins that are improperly folded, leading to accumulation of the mutant protein in the endoplasmic reticulum (ER). We also showed that expression of mutant in cultured cells activates the UPR pathway and induces cell death, suggesting that seipinopathy is tightly associated with ER stress, which has recently been reported to be associated with other neurodegenerative diseases. Further study of the pathological mechanisms of the mutant forms of seipin may lead to important new insights into motor neuron diseases, including other spastic paraplegia diseases and amyotrophic lateral sclerosis. PMID:22277529

  19. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

    PubMed Central

    Chang, Jaerak; Lee, Seongju; Blackstone, Craig

    2013-01-01

    Hereditary spastic paraplegias are inherited neurological disorders characterized by progressive lower-limb spasticity and weakness. Although more than 50 genetic loci are known [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutations in four genes encoding proteins that function in tubular endoplasmic reticulum (ER) network formation: atlastin-1 (SPG3A), spastin (SPG4), reticulon 2 (SPG12), and receptor expression-enhancing protein 1 (SPG31). Here, we show that the SPG33 protein protrudin contains hydrophobic, intramembrane hairpin domains, interacts with tubular ER proteins, and functions in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections. Protrudin also interacts with KIF5 and harbors a Rab-binding domain, a noncanonical FYVE (Fab-1, YGL023, Vps27, and EEA1) domain, and a two phenylalanines in an acidic tract (FFAT) domain and, thus, may also function in the distribution of ER tubules via ER contacts with the plasma membrane or other organelles. PMID:23969831

  20. Adult Hip Flexion Contracture due to Neurological Disease: A New Treatment Protocol—Surgical Treatment of Neurological Hip Flexion Contracture

    PubMed Central

    Nicodemo, Alberto; Arrigoni, Chiara; Bersano, Andrea; Massè, Alessandro

    2014-01-01

    Congenital, traumatic, or extrinsic causes can lead people to paraplegia; some of these are potentially; reversible and others are not. Paraplegia can couse hip flexion contracture and, consequently, pressure sores, scoliosis, and hyperlordosis; lumbar and groin pain are strictly correlated. Scientific literature contains many studies about children hip flexion related to neurological diseases, mainly caused by cerebral palsy; only few papers focus on this complication in adults. In this study we report our experience on surgical treatment of adult hip flexion contracture due to neurological diseases; we have tried to outline an algorithm to choose the best treatment avoiding useless or too aggressive therapies. We present 5 cases of adult hips flexion due to neurological conditions treated following our algorithm. At 1-year-follow-up all patients had a good clinical outcome in terms of hip range of motion, pain and recovery of walking if possible. In conclusion we think that this algorithm could be a good guideline to treat these complex cases even if we need to treat more patients to confirm this theory. We believe also that postoperation physiotherapy it is useful in hip motility preservation, improvement of muscular function, and walking ability recovery when possible. PMID:24707293

  1. Cardiometabolic risk factors in Iranians with spinal cord injury: analysis by injury-related variables.

    PubMed

    Sabour, Hadis; Javidan, Abbas Norouzi; Ranjbarnovin, Neda; Vafa, Mohammad Reza; Khazaeipour, Zahra; Ghaderi, Firoozeh; Mehrabani, Fatemeh Khanzadeh; Shidfar, Farzad

    2013-01-01

    Persons with spinal cord injury (SCI) have a high prevalence of abnormalities in carbohydrate and lipid metabolism. These abnormalities cause adverse coronary heart disease (CHD) in patients with SCI. In this study, we performed a detailed analysis of the level-specific cardiometabolic risk factors in individuals with SCI and analyzed the association of injury level on these risk factors. This was a cross-sectional study of 162 patients with SCI, assessing the prevalence of diabetes mellitus, dyslipidemia, hypertension, obesity, and smoking. Fasting blood sugar (>100) was diagnosed in 27 patients (16.7%). Of the total patients, 36 (22.2%) had a total cholesterol (TC) level of >200. A triglyceride level of >150 was present in 56 patients (34.6%). Hypertension was present in 2.5% of the entire patient group. Body mass index (BMI), TC, and low-density lipoprotein cholesterol (LDL-C) were significantly higher in the paraplegia group than the tetraplegia group (24.44 +/- 4.23 vs 22.65 +/- 4.27, p = 0.01; 185.71 +/- 40.69 vs 163.28 +/- 37.92, p < 0.001; and 102.51 +/- 28.20 vs 89.15 +/- 22.35, p = 0.01, respectively). Patients with paraplegia may have increased hypertension, higher BMI, and increasing levels of serum LDL-C and TC than those with tetraplegia. Conventional risk factors for CHD should be identified and treated in individuals with SCI. PMID:24013911

  2. The Troyer syndrome (SPG20) protein spartin interacts with Eps15

    SciTech Connect

    Bakowska, Joanna C. [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Jenkins, Russell [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Pendleton, James [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Blackstone, Craig [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States)]. E-mail: blackstc@ninds.nih.gov

    2005-09-09

    The hereditary spastic paraplegias comprise a group of inherited neurological disorders in which the primary manifestation is spastic weakness of the lower extremities. Troyer syndrome is an autosomal recessive form of spastic paraplegia caused by a frameshift mutation in the spartin (SPG20) gene. Currently, neither the localization nor the functions of the spartin protein are known. In this study, we generated anti-spartin antibodies and found that spartin is both cytosolic and membrane-associated. Using a yeast two-hybrid approach, we screened an adult human brain library for binding partners of spartin. We identified Eps15, a protein known to be involved in endocytosis and the control of cell proliferation. This interaction was confirmed by fusion protein 'pull-down' experiments as well as a cellular redistribution assay. Our results suggest that spartin might be involved in endocytosis, vesicle trafficking, or mitogenic activity, and that impairment in one of these processes may underlie the long axonopathy in patients with Troyer syndrome.

  3. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

    PubMed

    Abdollahpour, Hengameh; Alawi, Malik; Kortüm, Fanny; Beckstette, Michael; Seemanova, Eva; Komárek, Vladimír; Rosenberger, Georg; Kutsche, Kerstin

    2015-02-01

    The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation. AP-4 is a heterotetrameric protein complex with important functions in vesicle trafficking. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been reported in patients with the AP-4 deficiency phenotype. We describe two siblings from a non-consanguineous couple who presented with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia. Whole-exome sequencing in the two patients identified the novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1. Sanger sequencing confirmed the mutation in the siblings and revealed it in the heterozygous state in both parents. The AP4B1-associated phenotype has previously been assigned to spastic paraplegia-47. Identification of a novel AP4B1 alteration in two patients with clinical manifestations highly similar to other individuals with mutations affecting one of the four AP-4 subunits further supports the observation that loss of AP-4 assembly or functionality underlies the common clinical features in these patients and underscores the existence of the clinically recognizable AP-4 deficiency syndrome. PMID:24781758

  4. Decentralized cardiovascular autonomic control and cognitive deficits in persons with spinal cord injury

    PubMed Central

    Wecht, Jill M.; Bauman, William A.

    2013-01-01

    Spinal cord injury (SCI) results in motor and sensory impairments that can be identified with the American Spinal Injury Association (ASIA) Impairment Scale (AIS). Although, SCI may disrupt autonomic neural transmission, less is understood regarding the clinical impact of decentralized autonomic control. Cardiovascular regulation may be altered following SCI and the degree of impairment may or may not relate to the level of AIS injury classification. In general, persons with lesions above T1 present with bradycardia, hypotension, and orthostatic hypotension; functional changes which may interfere with rehabilitation efforts. Although many individuals with SCI above T1 remain overtly asymptomatic to hypotension, we have documented deficits in memory and attention processing speed in hypotensive individuals with SCI compared to a normotensive SCI cohort. Reduced resting cerebral blood flow (CBF) and diminished CBF responses to cognitive testing relate to test performance in hypotensive non-SCI, and preliminary evidence suggests a similar association in individuals with SCI. Persons with paraplegia below T7 generally present with a normal cardiovascular profile; however, our group and others have documented persistently elevated heart rate and increased arterial stiffness. In the non-SCI literature there is evidence supporting a link between increased arterial stiffness and cognitive deficits. Preliminary evidence suggests increased incidence of cognitive impairment in individuals with paraplegia, which we believe may relate to adverse cardiovascular changes. This report reviews relevant literature and discusses findings related to the possible association between decentralized cardiovascular autonomic control and cognitive dysfunction in persons with SCI. PMID:23809520

  5. Cervical Osteomyelitis with Thoracic Myelitis and Meningitis in a Diabetic Patient

    PubMed Central

    Ohnishi, Yu-ichiro; Iwatsuki, Koichi; Ishida, Shiromaru; Yoshimine, Toshiki

    2015-01-01

    A 45-year-old man with a history of untreated diabetes mellitus had a persisting fever, back pain, and diarrhea. The primary care physician diagnosed the patient with the flu and gastroenteritis. The patient developed paraplegia for two weeks and was admitted to another hospital. The physician in this hospital suspected infectious meningitis and myelitis, and administered piperacillin and steroids without cerebrospinal fluid (CSF) examination. On referral to our hospital, he presented a high fever and complete paraplegia. The lumbar puncture revealed a yellowish CSF, polynucleosis, and hypoglycorrhachia. Bacteria were not detected on Gram’s staining and were not confirmed by CSF culture. Magnetic resonance imaging (MRI) showed no thoracolumbar lesion and suggested a cervical epidural abscess without any spinal cord compression. He was diagnosed as having osteomyelitis with meningitis and thoracic myelitis. The infection subsided with broad-spectrum antibiotics. After two weeks, bilateral sensorimotor disturbances of the upper extremities appeared. MRI findings showed the epidural abscess compressing the cervical spinal cord. We performed debridement of the epidural abscess. The infection was clinically controlled by using another antibiotic. One month after the infection subsided, a 360° reconstruction was performed. In this case, the misdiagnosis and the absence of CSF examination and culture to detect the pathogenic bacteria at an earlier stage in the patient’s disease course might have led to the exacerbation of the pathology. PMID:25983566

  6. Quality of life of spinal cord injured patients in Taiwan: a subgroup study.

    PubMed

    Lin, K H; Chuang, C C; Kao, M J; Lien, I N; Tsauo, J Y

    1997-12-01

    The major purposes of this study were to assess the quality of life (QOL) of spinal cord injured patients, and to assess the possible factors affecting the QOL. The survey was conducted from 1992-1993 by mailed questionnaires to members of Spinal Cord Injury Association of the Republic of China. There were 347 quality responses with the mean age of 37.5 +/- 10.2 years old and the mean duration of illness of 7.8 +/- 6.8 years. The questionnaire included five domains, physical mobility, environment-transportation, psychosocial adjustment, education and economics for a total of 39 items. Each item contained a rating of 'importance' and 'satisfaction'. The quality of life index (QLI) was calculated by multiplying the satisfaction score with the importance score, then dividing by the possible highest score. The major results included: (1) the subjects had mild to moderate dissatisfaction with most items in five domains except psychosocial adjustment: (2) quality of life in those with complete tetraplegia (QLI = -0.41) and incomplete tetraplegia (QLI = -0.31) was significantly lower than that of those with complete paraplegia (QLI = -0.13) and incomplete paraplegia (QLI = -0.04); (3) both the severity of injury and the post-injury working status were the major factors affecting the life quality of spinal cord injured patients in Taiwan. PMID:9429263

  7. Substandard urological care of elderly patients with spinal cord injury: an unrecognized epidemic?

    PubMed Central

    2014-01-01

    Background We report the anecdotal observation of substandard urological care of elderly paraplegic patients in the community suffering from long-term sequelae of spinal cord injuries. This article is designed to increase awareness of a problem that is likely underreported and may represent the ‘tip of the iceberg’ related to substandard care provided to the vulnerable population of elderly patients with chronic neurological impairment. Findings A registered Nurse changed the urethral catheter of an 80-year-old-male with paraplegia; patient developed profuse urethral bleeding and septicaemia. Ultrasound revealed balloon of Foley catheter located in membranous urethra. Flexible cystoscopy was performed and a catheter was inserted over a guide wire. Urethral bleeding recurred 12 days later. This patient was discharged after protracted stay in spinal unit. A nurse changed urethral catheter in an 82-year-old male with paraplegia. The catheter did not drain urine; patient developed pain in lower abdomen. The balloon of Foley catheter was visible behind the urethral meatus, which indicated that the balloon had been inflated in penile urethra. The catheter was removed and a 16 French Foley catheter was inserted per urethra. About 1300 ml of urine was drained. A 91-year-old lady with paraplegia underwent routine ultrasound examination of urinary tract by a Consultant Radiologist, who reported a 4 cm × 3 cm soft tissue mass in the urinary bladder. Cystoscopy was performed without anaesthesia in lithotomy position. Cystoscopy revealed normal bladder mucosa; no stones; no tumour. Following cystoscopy, the right knee became swollen and there was deformity of lower third of right thigh. X-ray revealed fracture of lower third of right femur. Femoral fracture was treated by immobilisation in full plaster cast. Follow-up ultrasound examination of urinary tract, performed by a senior Radiologist, revealed normal outline of urinary bladder with no tumour or calculus. Conclusion The adverse outcomes can be averted if elderly spinal cord injury patients are treated by senior, experienced health professionals, who are familiar with changes in body systems due to old age, compounded further by spinal cord injury. PMID:24447309

  8. A novel microwave sensor to detect specific biomarkers in human cerebrospinal fluid and their relationship to cellular ischemia during thoracoabdominal aortic aneurysm repair.

    PubMed

    Fok, M; Bashir, M; Fraser, H; Strouther, N; Mason, A

    2015-04-01

    Thoraco-abdominal aneurysms (TAAA) represents a particularly lethal vascular disease that without surgical repair carries a dismal prognosis. However, there is an inherent risk from surgical repair of spinal cord ischaemia that can result in paraplegia. One method of reducing this risk is cerebrospinal fluid (CSF) drainage. We believe that the CSF contains clinically significant biomarkers that can indicate impending spinal cord ischaemia. This work therefore presents a novel measurement method for proteins, namely albumin, as a precursor to further work in this area. The work uses an interdigitated electrode (IDE) sensor and shows that it is capable of detecting various concentrations of albumin (from 0 to 100 g/L) with a high degree of repeatability at 200 MHz (R(2)?=?0.991) and 4 GHz (R(2)?=?0.975). PMID:25686914

  9. Epidural abscess T5T8 due to methicillin-resistent staphylococcus aureus in an immunocompetent patient.

    PubMed

    Shaoqi, He; Lixing, Lin; Chengxuan, Tang; Guojing, Yang

    2010-10-01

    A 28-year-old man was admitted with severe thoracic pain, a body temperature of 37.20, paraplegia and sphincter disturbances. MRI revealed an epidural abscess T5T8. A decompressive laminectomy T5T8 was performed and the abscess was removed. A methicillin-resistent Staphylococcus aureus was cultured. Vancomycin was administered. Six months later muscle testing showed values from 3/5 to 4/5. MRI is the first choice diagnostic tool. Laminectomy, drainage and intravenous antibiotics constitute the basic treatment. Antibiotics alone can be sufficient in case of whole spine involvement, lumbosacral localization without neurological symptoms, fixed neurological deficit, complete paralysis for more than 72 hours, or severe concomitant medical problems. PMID:21138231

  10. Hemophilia A in a Senior Patient: A Case Report of Spinal Epidural Hematoma as First Presentation

    PubMed Central

    Jung, Woo Shik; Lee, Jae Il

    2015-01-01

    Hemophilia A is a hereditary coagulation disorder. Most cases are diagnosed at birth or at least during childhood. A spontaneous spinal epidural hematoma was developed in a 74-year-old male patient who hadn't had a family or past medical history of bleeding disorders. On magnetic resonance imaging, epidural hematoma at L1-2 was accompanied by spinal stenosis at L4-5 and spondylolytic spondylolisthesis at L5. Hematoma evacuation and surgery for distal lumbar lesions were performed at once. After transient improvement, complete paraplegia was developed due to redevelopment of large epidural hematomas at L1-2 and L4-S1 which blocked epidural canal completely. Emergency evacuation was performed and we got to know that he had a hemophilia A. Factor VIII was 28% of normal value. Mild type hemophilia A could have not been diagnosed until adulthood. Factor VIII should have been replaced before the surgical decompression.

  11. Spinal cord compression as initial presentation of metastatic occult follicular thyroid carcinoma

    PubMed Central

    Khan, Md Nuruzzaman; Sharfuzzaman, AMSM; Mostafa, Md Golam

    2014-01-01

    Metastatic tumors are the most common tumors of the spine, accounting for 98% of all spine lesions. But spinal cord compression as the initial presentation of metastatic occult follicular carcinoma without any thyroid enlargement is unusual and relatively rare. This report describes a 35-years-old female patient presenting with paraplegia and urinary incontinence for the last two months. She had no thyroid enlargement; no thyroid related symptoms and her biochemical thyroid profile was normal. Magnetic resonance imaging (MRI) of spine shows a huge mass compressing the spinal cord at D11-D12 involving both the spinal and paraspinal areas. The patient was treated by surgery and radioiodine ablation as the histopathology showed metastatic follicular thyroid carcinoma. This case was reported because of the rarity of the disease. Early diagnosis and initiation of the treatment should promise a good prognosis for a patient with metastatic spinal cord compression. PMID:24966555

  12. Tuberculosis of spine

    PubMed Central

    Agrawal, Vinod; Patgaonkar, P. R.; Nagariya, S. P.

    2010-01-01

    Tuberculosis of the spine is one of the most common spine pathology in India. Over last 4 decades a lot has changed in the diagnosis, medical treatment and surgical procedures to treat this disorder. Further developments in diagnosis using molecular genetic techniques, more effective antibiotics and more aggressive surgical protocols have become essential with emergence of multidrug resistant TB. Surgical procedures such as single stage anterior and posterior stabilization, extrapleral dorsal spine anterior stabilization and endoscopic thoracoscopic surgeries have reduced the mortality and morbidity of the surgical procedures. is rapidly progressing. It is a challenge to treat MDR-TB Spine with late onset paraplegia and progressive deformity. Physicians must treat tuberculosis of spine on the basis of Culture and sensitivity. PMID:21572628

  13. Cystic hydatidosis: a rare case of spine localization.

    PubMed

    Scarlata, Francesco; Giordano, Salvatore; Saporito, Laura; Marasa, Lorenzo; Li Pani, Giuseppe; Odierna, Antonio; Scaglione, Vincenzo; Di Carlo, Paola; Romano, Amelia

    2011-03-01

    Cystic hydatidosis is a zoonosis endemic both to Sicily and other Mediterranean areas. Generally, Echinococcus granulosus tapeworms develop in the liver, lung and less frequently in the peritoneum, spleen or kidney. We present a rare case of spinal hydatid disease. The patient was a 38-year-old housewife with a vertebral echinococcosis revealed by acute paraplegia of the legs. Medical treatment with albendazole and surgical intervention improved the clinical symptoms. This case is emblematic both for the unusual localization and for the need of a multidisciplinary approach for diagnosing and monitoring suspected hydatid lesions. Patients with suspected abdominal or lung echinococcosis should also be investigated for other localizations such as the brain, spine and heart. Furthermore, in endemic areas hydatidosis must be suspected in the presence of lesions occupying space in these districts. PMID:21471745

  14. Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population.

    PubMed

    Zeng, Junsheng; Wang, Junling; Zeng, Sheng; He, Miao; Zeng, Xianfeng; Zhou, Yao; Liu, Zhen; Jiang, Hong; Tang, Beisha

    2015-04-15

    Friedreich's Ataxia (FRDA) is a very common cause of hereditary autosomal recessive ataxia among western Europeans. We aim to define the frequency of FRDA in Chinese Han population due to the lack of reports of FRDA in China. The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients. The GAA copy numbers in the FXN gene of all the subjects ranged from 5 to 16. There were no FRDA patients that could be diagnosed base on the results of TP-PCR. It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should not be used as a routine genetic diagnosis test in China. PMID:25765228

  15. Ophthalmic manifestations of inherited neurodegenerative disorders.

    PubMed

    Kersten, Hannah M; Roxburgh, Richard H; Danesh-Meyer, Helen V

    2014-06-01

    Ophthalmic findings are common features of neurodegenerative disorders and, in addition to being clinically important, have emerged as potentially useful biomarkers of disease progression in several conditions. Clinically, these visual system abnormalities can be a clue to diagnosis, as well as being a prominent cause of disability in affected patients. In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, including the muscular dystrophies, Friedreich ataxia, the spinocerebellar ataxias, hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and other conditions. We focus on the expanding role of optical coherence tomography in diagnostic imaging of the retina and optic nerve head, and the possible use of ophthalmic findings as biomarkers of disease severity in hereditary neurodegenerative disorders. In addition, we discuss the ophthalmic manifestations and treatment implications of mitochondrial dysfunction, which is a feature of many inherited neurodegenerative diseases. PMID:24840976

  16. BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

    PubMed

    Cen, Zhidong; Lu, Xingjiao; Wang, Zhenzhen; Ouyang, Zhiyuan; Xie, Fei; Luo, Wei

    2015-02-01

    Silver syndrome/spastic paraplegia 17 is an autosomal dominant, complicated hereditary spastic paraparesis in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver syndrome, distal hereditary motor neuropathy type V and Charcot-Marie-Tooth disease type 2. We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L. Most reported patients (21 of 26) with this mutation showed a phenotype of Silver syndrome. The S90L mutation is predominantly associated with Silver syndrome. PMID:25487175

  17. Hybrid repair of type II dissecting thoracoabdominal aneurysm using Amplatzer vascular plugs for entry tear closure.

    PubMed

    Coscas, Raphaël; Capdevila, Clément; Colacchio, Giovanni; Goëau-Brissonnière, Olivier; Coggia, Marc

    2013-10-01

    Endovascular repair of chronic aortic dissections (CAD) intend to promote false lumen thrombosis (FLT). This article describes a technique using Amplatzer vascular plugs (AVPs) for entry tear closure of CAD. A 70-year-old man presented with a type II dissecting thoracoabdominal aneurysm. Computed tomography scan showed a very tight true lumen, partial FLT, and 2 entry tears at the level of the left subclavian artery and the visceral aorta, respectively. During a first procedure, aortic debranching was performed using the ascending aorta as bypass inflow. In a second intervention entry tears were closed using AVPs protected by short stent grafts. Technical success was achieved. No paraplegia occurred. Eighteen months later, FLT was complete and aortic diameter decreased. Entry tear closure using AVPs is feasible and allows FLT. Further reports are needed to determine if stent-graft protection of AVPs is mandatory, which may simplify technical aspects of the procedure. PMID:23993113

  18. Open fenestration for complicated acute aortic B dissection

    PubMed Central

    Segreti, Sara; Grassi, Viviana; Lomazzi, Chiara; Cova, Marta; Piffaretti, Gabriele; Rampoldi, Vincenzo

    2014-01-01

    Acute type B aortic dissection (ABAD) is a serious cardiovascular emergency in which morbidity and mortality are often related to the presence of complications at clinical presentation. Visceral, renal, and limb ischemia occur in up to 30% of patients with ABAD and are associated with higher in-hospital mortality. The aim of the open fenestration is to resolve the malperfusion by creating a single aortic lumen at the suprarenal or infrarenal level. This surgical procedure is less invasive than total aortic replacement, thus not requiring extracorporeal support and allowing preservation of the intercostal arteries, which results in decreased risk of paraplegia. Surgical aortic fenestration represents an effective and durable option for treating ischemic complications of ABAD, particularly for patients with no aortic dilatation. In the current endovascular era, this open technique serves as an alternative option in case of contraindications or failure of endovascular management of complicated ABAD. PMID:25133107

  19. Autosomal recessive spino-olivo-cerebellar degeneration without ataxia.

    PubMed Central

    Staal, A; Stefanko, S Z; Jennekens, F G; Vries-Bos, L H; van Gijn, J

    1983-01-01

    Five adult siblings from a sibship of ten suffering from an external ophthalmoplegia with a spastic paraplegia are reported. In addition, optic nerve atrophy was present in three of the patients and dementia in two; extrapyramidal signs and cerebellar ataxia were found only in one patient. Contrary to earlier studies of patients with comparable neurological signs the pattern of inheritance was autosomal recessive. Neuropathological investigation of the index case, who had never shown ataxia, nevertheless showed demyelination of the spinocerebellar and the olivocerebellar pathways, and also a severe loss of Purkinje cells, of cells in Clarke's column and in the inferior olives. The dentate nucleus was severely gliotic but showed no cell loss. Earlier neuropathological investigations of this disorder, but with an autosomal dominant heredity, were incomplete. It is concluded that the five siblings of this family have a unique autosomal recessive disorder, which should be considered a distinct entity. Images PMID:6886703

  20. Safety belt education using visual crash images and low-cost incentives.

    PubMed

    Bross, M H; Spellicy, M J

    1994-03-01

    Automobile safety belt use among teen-agers remains low despite high crash morbidity and mortality. This article describes a model of a community-based safety belt promotional program. Ten public high schools, with student club and administrative support, were selected from across Mississippi. Safety belt assemblies, which created vivid crash images, were conducted using police officers, ambulance personnel, people with paraplegia, football players, and others. Low-cost incentives were awarded to buckled students over a 10-week period. Implementation of the program resulted in a mean increase of 21% in male safety belt use and 17% in female safety belt use. Concepts used in the program are reproducible, at minimal cost, by using personnel found in most communities. PMID:7515131

  1. An Unusual Case of a Large Hematorrachis Associated with Multi-Level Osteoporotic Vertebral Compression Fractures; a Case Report

    PubMed Central

    Kumar, T.V. Ravi; Daksh, Gadi; Raghavendra, Rao; Mathew, Joseph Vinay

    2015-01-01

    Spinal epidural haemorrhage may present as back pain associated with radicular symptoms and can be a catastrophic clinical scenario with progression to paraplegia or even sudden death. Being a rare entity, it needs a high index of clinical suspicion to diagnose it. Fractures have been documented as a cause of hematorrachis but such hematomas only extend to one or two vertebral segments. Large epidural hematomas are usually associated with conditions like bleeding diathesis, arterio-venous malformations, plasma cell myeloma, and non-Hodgkin’s lymphoma. Surgical management with immediate evacuation of the hematoma is the usual line of management in patients with neurological deficits. Though rare, monitored and careful conservative management can lead to recovery of neurological symptoms and resolution of the hematoma. We report a case of a very large post traumatic epidural hematorrchis extending to 11 vertebral segments from D3 to L1 vertebral bodies, who had a gradual spontaneous recovery.

  2. Epidural hematoma occurred by massive bleeding intraoperatively in cesarean section after combined spinal epidural anesthesia -A case report-

    PubMed Central

    Chung, Ji-Hyun; Hwang, Jinhwan; Cha, Seung-Cheol; Jung, Taehyeng

    2011-01-01

    We describe a case of acute lumbar epidural hematoma at the L2-3 level complicated by paraplegia, which occurred after coagulation disorder because of massive bleeding intraoperatively in cesarean section. The preoperative coagulation laboratory finding was in normal range and so we tried combined spinal epidural anesthesia. Uterine atony occurred in the operation, and there was persistant bleeding during and after the operation. After the operation, she complained of paresthesia on her both legs and was diagnosed with epidural hematoma (EDH) by radiologic examination. Emergency laminectomy on lumbar spine was carried out for hematoma evacuation and decompression of the epidural space at once. In our experience, massive bleeding during surgery may potentially increase the risk of EDH postoperatively. PMID:22110889

  3. Motor Weakness after Caudal Epidural Injection Using the Air-acceptance Test

    PubMed Central

    Lee, Mi Hyeon; Han, Cheol Sig; Lee, Sang Hoon; Lee, Jeong Hyun; Choi, Eun Mi; Choi, Young Ryong

    2013-01-01

    Air injected into the epidural space may spread along the nerves of the paravertebral space. Depending on the location of the air, neurologic complications such as multiradicular syndrome, lumbar root compression, and even paraplegia may occur. However, cases of motor weakness caused by air bubbles after caudal epidural injection are rare. A 44-year-old female patient received a caudal epidural injection after an air-acceptance test. Four hours later, she complained of motor weakness in the right lower extremity and numbness of the S1 dermatome. Magnetic resonance imaging showed no anomalies other than an air bubble measuring 13 mm in length and 0.337 ml in volume positioned near the right S1 root. Her symptoms completely regressed within 48 hours. PMID:23862003

  4. Acute Spontaneous Spinal Subdural Hematoma with Vague Symptoms

    PubMed Central

    Chung, Jaehwan; Hwang, Soo-Hyun; Han, Jong-Woo

    2014-01-01

    Spinal subdural hematoma is a rarely reported disease and spontaneous spinal subdural hematomas (SSDH) without underlying pathological changes are even rarer. The patients usually show typical symtoms such as back pain, quadriplegia, paraplegia or sensory change. But rarely, patients may show atypical symptoms such as hemiparesis and misdiagnosed to cerebrovascular accident. We recently experienced a case of SSDH, where the patient initially showed vague symptoms, such as the sudden onset of headache which we initially misdiagnosed as subarachnoid hemorrhage. In this case, the headache of patient improved but the neck pain persisted until hospital day 5. Therefre, we conducted the MRI of cervical spine and finally confirmed SSDH. The patient was managed conservatively and improved without recurrence. In this case report, we discuss the clinical features of SSDH with emphasis on the importance of an early diagnosis. PMID:25368774

  5. [Spontaneous spinal epidural hematoma as cause of incomplete spinal cord injury].

    PubMed

    Spalteholz, M; Rödel, L

    2013-11-01

    Spontaneous spinal epidural hematomas are rare but are of differential diagnostic importance due to the potentially dramatic progression through to irreversible neurological deficits. At the beginning the clinical symptoms are non-specific and the development of neurological deficits leads to the diagnosis. We present the case of a 73-year-old female patient who initially reported uncharacteristic neck pain and developed incomplete quadriplegia during the next day as well as the case of a 78-year-old male patient, who complained of acute back pain and developed paraplegia a short time afterwards. Early microsurgery and spinal canal evacuation led to complete remission of the neurological deficits in both cases. PMID:23999927

  6. Enhancing physical activity guidelines: a needs survey of adults with spinal cord injury and health care professionals.

    PubMed

    Foulon, Brianne L; Lemay, Valérie; Ainsworth, Victoria; Martin Ginis, Kathleen A

    2012-10-01

    The purpose of this study was to determine preferences of people with spinal cord injury (SCI) and health care professionals (HCP) regarding the content and format of a SCI physical activity guide to support recently released SCI physical activity guidelines. Seventy-eight people with SCI and 80 HCP completed a survey questionnaire. Participants with SCI identified desired content items and their preferences for format. HCP rated the helpfulness of content items to prescribe physical activity. All content items were rated favorably by participants with SCI and useful by HCP. The risks and benefits of activity and inactivity, and strategies for becoming more active, were rated high by both samples. Photographs and separate information for those with paraplegia versus tetraplegia were strongly endorsed. These data were used to guide the development of an SCI physical activity guide to enhance the uptake of physical activity guidelines for people with SCI. The guide was publically released November 11, 2011. PMID:23027146

  7. [Long-term follow-up in patients with spinal cord injury - prevention and comprehensive care].

    PubMed

    Spreyermann, Regula; Michel, Franz

    2014-01-15

    Patients with spinal cord injuries suffer not only from sensory and motor deficits, but from failure of the autonomic nerve system which in consequence involves many organs and metabolic pathways. These deficits lead to a different approach to these patients and their medical, psychological and social problems. Three examples will illustrate the different approaches to typical medical problems of these patients. Regularly ambulatory long term follow up visits in specialized centres in close collaboration with general practitioners help to diminish complications and rehospitalisations. Facing the now ageing population with a spinal cord injury we need evidence based guidelines in follow up and preventive strategies for these patients. We updated these recommendations recently. The brochure is available on the webside oft he swiss society of paraplegia www.ssop.ch. PMID:24425548

  8. Acute spontaneous spinal subdural hematoma with vague symptoms.

    PubMed

    Chung, Jaehwan; Park, In Sung; Hwang, Soo-Hyun; Han, Jong-Woo

    2014-09-01

    Spinal subdural hematoma is a rarely reported disease and spontaneous spinal subdural hematomas (SSDH) without underlying pathological changes are even rarer. The patients usually show typical symtoms such as back pain, quadriplegia, paraplegia or sensory change. But rarely, patients may show atypical symptoms such as hemiparesis and misdiagnosed to cerebrovascular accident. We recently experienced a case of SSDH, where the patient initially showed vague symptoms, such as the sudden onset of headache which we initially misdiagnosed as subarachnoid hemorrhage. In this case, the headache of patient improved but the neck pain persisted until hospital day 5. Therefre, we conducted the MRI of cervical spine and finally confirmed SSDH. The patient was managed conservatively and improved without recurrence. In this case report, we discuss the clinical features of SSDH with emphasis on the importance of an early diagnosis. PMID:25368774

  9. Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family.

    PubMed

    Ahmed, Fathelrahman E; Albakrah, Mohameed S

    2009-01-01

    The occurrence of autoimmune hemolytic anemia and immune thrombocytopenia in the absence of a known underlying cause led to the diagnosis of Evans syndrome in a 9-month-old male. Subsequently, a similar diagnosis was made in two siblings (a 3-year-old boy and a 1-day-old girl). The 9-month-old had a chronic course with exacerbations. He was treated with steroids, intravenous immunoglobulin and colchicine with a variable response. He died of congestive heart failure at the age of 8 years. The brotherâs disease course was one of remission and exacerbation. With time, remissions were prolonged and paralleled an improvement in joint hypermobility. The sister died of sepsis after a chronic course with severe exacerbations. Only two families with Evans syndrome have been reported in the English medical literature. In one report (in a Saudi Arab family), the disease was associated with hereditary spastic paraplegia. PMID:19448367

  10. Acute myelitis associated with HCV infection

    PubMed Central

    Suzuki, Kentaro; Takao, Masaki; Katayama, Yasuo; Mihara, Ban

    2013-01-01

    We report a case of acute myelitis associated with hepatitis C virus (HCV) infection. A Japanese woman developed left calf pain and weakness, but this quickly generalised to paraplegia. We diagnosed acute myelitis based on the results of clinical manifestations, an MRI examination and a cerebrospinal fluid (CSF) examination. The clinical condition and spinal cord lesions improved following intravenous administration of methylprednisolone. The patient had been diagnosed with HCV infection 11?years before the onset. We detected HCV RNA in the CSF, supporting the strong association of our patient's myelitis. However, it is difficult to conclude whether the neurological condition was caused directly by the viral load or indirectly by the immune response. We suggest that testing for HCV infection is important in patients with myelitis. In particular, anti-HCV antibody and HCV RNA should be measured in the patients’ serum as well as CSF. PMID:23771965

  11. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    PubMed Central

    Hofree, Matan; Silhavy, Jennifer L.; Heiberg, Andrew D.; Abdellateef, Mostafa; Rosti, Basak; Scott, Eric; Mansour, Lobna; Masri, Amira; Kayserili, Hulya; Al-Aama, Jumana Y.; Abdel-Salam, Ghada M. H.; Karminejad, Ariana; Kara, Majdi; Kara, Bulent; Bozorgmehri, Bita; Ben-Omran, Tawfeg; Mojahedi, Faezeh; El Din Mahmoud, Iman Gamal; Bouslam, Naima; Bouhouche, Ahmed; Benomar, Ali; Hanein, Sylvain; Raymond, Laure; Forlani, Sylvie; Mascaro, Massimo; Selim, Laila; Shehata, Nabil; Al-Allawi, Nasir; Bindu, P.S.; Azam, Matloob; Gunel, Murat; Caglayan, Ahmet; Bilguvar, Kaya; Tolun, Aslihan; Issa, Mahmoud Y.; Schroth, Jana; Spencer, Emily G.; Rosti, Rasim O.; Akizu, Naiara; Vaux, Keith K.; Johansen, Anide; Koh, Alice A.; Megahed, Hisham; Durr, Alexandra; Brice, Alexis; Stevanin, Giovanni; Gabriel, Stacy B.; Ideker, Trey; Gleeson, Joseph G.

    2014-01-01

    Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease. PMID:24482476

  12. Immunohistochemical localization of spatacsin in ?-synucleinopathies.

    PubMed

    Kuru, Satoshi; Yoshida, Mari; Tatsumi, Shinsui; Mimuro, Maya

    2014-04-01

    Spatacsin (SPG11) is a major mutated gene in autosomal recessive spastic paraplegia with thin corpus callosum (ARHSP-TCC) and is responsible for juvenile Parkinsonism. To elucidate the role of spatacsin in the pathogenesis of ?-synucleinopathies, an immunohistochemical investigation was performed on the brain of patients with Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) using anti-spatacsin antibody. In PD, Lewy bodies (LBs) in the brain stem were positive for spatacsin. These LBs showed intense staining in their peripheral portions and occasionally in the central cores. Lewy neurites were also spatacsin-positive. In DLB, cortical LBs were immunolabeled by spatacsin. In MSA, glial cytoplasmic inclusions (GCI) and a small fraction of neuronal cytoplasmic inclusions (NCI) were positive for spatacsin. The widespread accumulation of spatacsin observed in pathologic ?-synuclein-containing inclusions suggests that spatacsin may be involved in the pathogenesis of ?-synucleinopathies. PMID:24112408

  13. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature

    SciTech Connect

    Die-Smulders, C.E.M. de; Engelen, J.J.M.; Schrander-Stumpel, C.T.R.M. [Univ. of Limburg, Maastricht (Netherlands)] [and others

    1995-11-20

    We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. 16 refs., 4 figs., 2 tabs.

  14. Connexin: a potential novel target for protecting the central nervous system?

    PubMed Central

    Xie, Hong-yan; Cui, Yu; Deng, Fang; Feng, Jia-chun

    2015-01-01

    Connexin subunits are proteins that form gap junction channels, and play an important role in communication between adjacent cells. This review article discusses the function of connexins/hemichannels/gap junctions under physiological conditions, and summarizes the findings regarding the role of connexins/hemichannels/gap junctions in the physiological and pathological mechanisms underlying central nervous system diseases such as brain ischemia, traumatic brain and spinal cord injury, epilepsy, brain and spinal cord tumor, migraine, neuroautoimmune disease, Alzheimer's disease, Parkinson's disease, X-linked Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher-like disease, spastic paraplegia and maxillofacial dysplasia. Connexins are considered to be a potential novel target for protecting the central nervous system. PMID:26170830

  15. Spinal Epidural Hematoma After Thrombolysis for Deep Vein Thrombosis with Subsequent Pulmonary Thromboembolism: A Case Report

    SciTech Connect

    Han, Young-Min, E-mail: ymhan@chonbuk.ac.kr; Kwak, Ho-Sung; Jin, Gong-Young; Chung, Gyung-Ho [Chonbuk National University Medical School, Departments of Radiology (Korea, Republic of); Song, Kyung-Jin [Chonbuk National University Medical School, Departments of Orthopedic Surgery (Korea, Republic of)

    2006-06-15

    A 38-year-old male was initially admitted for left leg swelling. He was diagnosed as having deep vein thrombosis (DVT) in the left leg and a pulmonary thromboembolism by contrast-enhanced chest computed tomography (CT) with delayed lower extremity CT. The DVT was treated by thrombolysis and a venous stent. Four hours later, he complained of severe back pain and a sensation of separation of his body and lower extremities; he experienced paraplegia early in the morning of the following day. Magnetic resonance imaging showed a spinal epidural hematoma between T11 and L2, which decompressed following surgery. We, therefore, report a case of a spinal epidural hematoma after thrombolysis in a case of DVT with a pulmonary thromboembolism.

  16. Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.

    PubMed

    Garbern, J Y

    2007-01-01

    Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise from mutations in the X-linked gene encoding myelin proteolipid protein (PLP). Analysis of mutations affecting PLP, the major protein in central nervous system myelin, has revealed previously unsuspected roles for myelinating glia in maintaining the integrity of the nervous system. The disease spectrum for PMD and SPG2 is extraordinarily broad and can be best understood by accounting not only for the wide range of mutations that can occur but also for the effects of PLP1 mutations on both cell autonomous and non-cell autonomous processes in myelinating cells. Appreciating the wide range of genetic and cellular effects of PLP1 mutations is important for patient and family counseling, understanding disease pathogenesis, and, ultimately, for developing future disease-specific therapies. PMID:17115121

  17. Neuroschistosomiasis.

    PubMed

    Carod-Artal, Francisco Javier

    2010-11-01

    Neuroschistosomiasis, the infection of the CNS by Schistosoma spp., is a neglected and under-recognized complication of schistosomiasis. Cerebral and spinal neuroschistosomiasis can provoke severe disability. Neurological symptoms occur as a consequence of the immune reaction around the eggs deposited in the CNS. Cerebral neuroschistosomiasis may present with altered sensorium, headache, seizures and focal neurological deficit. Pseudotumoral and cerebellar neuroschistosomiasis may provoke intracranial hypertension and hydrocephalus. Brain-enhancing lesions with associated mass effect can be observed on MRI. Transverse myelitis and myeloradiculopathy affecting the conus medullaris and/or cauda equina are the most common spinal cord syndromes. Transverse myelitis can present as flaccid arreflexic paraplegia with sensory level and sphincter dysfunction. Praziquantel and corticoids have been successfully used to treat neuroschistosomiasis. Ventricle-peritoneal shunt may be necessary to treat hydrocephalus associated with tumor-like brain and/or cerebellar schistosomiasis. PMID:21073294

  18. Delayed Visceral and Spinal Cord Malperfusion after Axillo-Bifemoral Bypass for Complicated Acute Type B Aortic Dissection

    PubMed Central

    Tomioka, Hideyuki; Katahira, Seiichiro; Hoshino, Takeshi; Hanzawa, Kazuhiko

    2014-01-01

    We describe a successfully treated case of acute type B aortic dissection complicated with lower extremity, visceral, and spinal cord malperfusion. To restore perfusion to both lower extremities, we performed an emergency right axillo-bifemoral bypass. Furthermore, we performed total arch replacement, including primary entry closure, because of delayed visceral organ ischemia. Unexpectedly, delayed paraplegia occurred after hospital discharge; however, the patient recovered without any neurologic sequelae after early introduction of hyperbaric oxygen therapy. Because another episode of organ malperfusion in the long term cannot be anticipated, and even though the previous organ malperfusion episode was treated successfully, close observation is mandatory for detecting clinical manifestations in combination with the availability of imaging modalities. PMID:25298840

  19. Rehabilitation while standing.

    PubMed

    Vannini, A M

    2000-01-01

    Paraplegia caused by traumatic vertebrospinal lesions too often signifies paralyzing motor injury, and the rehabilitator is attributed the task of activating all of the rehabilitation procedures aimed at restoring an acceptable level of independence for the patient in terms of self-management and transferral. Traditional rehabilitation protocols have as a maximum objective the strengthening of the districts located above the injury, and their use in motori compensation operations aimed at maintaining the paralyzed region located below the injury. The main aim is that of training the patient to use the wheelchair and to adapt to his or her disability. Still today, many famous foreign spinal centers substitute the term "rehabilitation center" with "adaptation center." Today, we wish to bring the patient back to an erect physiological posture and walking, aided by his or her own limbs. New proposals for rehabilitation are observed that may be defined "rehabilitation while standing." PMID:11569055

  20. The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

    PubMed Central

    Boone, Philip M.; Yuan, Bo; Campbell, Ian M.; Scull, Jennifer C.; Withers, Marjorie A.; Baggett, Brett C.; Beck, Christine R.; Shaw, Christine J.; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E.; Hein, Nichole; Fink, John K.; Seong, Moon-Woo; Seo, Soo Hyun; Park, Sung Sup; Karbassi, Izabela D.; Batish, Sat Dev; Ordóñez-Ugalde, Andrés; Quintáns, Beatriz; Sobrido, María-Jesús; Stemmler, Susanne; Lupski, James R.

    2014-01-01

    Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins and molecular consequences remain obscure. We mapped breakpoint junctions of 54 SPAST CNVs at nucleotide resolution. Diverse combinations of exons are deleted or duplicated, highlighting the importance of particular exons for spastin function. Of the 54 CNVs, 38 (70%) appear to be mediated by an Alu-based mechanism, suggesting that the Alu-rich genomic architecture of SPAST renders this locus susceptible to various genome rearrangements. Analysis of breakpoint Alus further informs a model of Alu-mediated CNV formation characterized by small CNV size and potential involvement of mechanisms other than homologous recombination. Twelve deletions (22%) overlap part of SPAST and a portion of a nearby, directly oriented gene, predicting novel chimeric genes in these subjects’ genomes. cDNA from a subject with a SPAST final exon deletion contained multiple SPAST:SLC30A6 fusion transcripts, indicating that SPAST CNVs can have transcriptional effects beyond the gene itself. SLC30A6 has been implicated in Alzheimer disease, so these fusion gene data could explain a report of spastic paraplegia and dementia cosegregating in a family with deletion of the final exon of SPAST. Our findings provide evidence that the Alu genomic architecture of SPAST predisposes to diverse CNV alleles with distinct transcriptional—and possibly phenotypic—consequences. Moreover, we provide further mechanistic insights into Alu-mediated copy-number change that are extendable to other loci. PMID:25065914

  1. One-year follow-up of Chinese people with spinal cord injury: A preliminary study

    PubMed Central

    Chan, Sam Chi Chung; Chan, Alice Po Shan

    2013-01-01

    Background A tertiary spinal cord injury (SCI) center was established in the northern region of Hong Kong, China and a multidisciplinary SCI rehabilitation program was developed to reintegrate patients into the community. Objective To investigate functional outcomes for Chinese people with SCI across a 1-year period. Design Longitudinal prospective design. Methods Thirty community-dwelling participants with traumatic SCI were recruited. Functional status was measured using functional independence measure (FIM) on admission, upon discharge, 1-month, 3-month, 6-month, and 1-year post-discharge. Information on use of assistive devices and life role were also obtained. Results Twenty-three (76.67%) participants were men. Seventeen participants (10 with tetraplegia and 7 with paraplegia) were classified ASIA A, B, or C; 13 (7 with tetraplegia and 6 with paraplegia) were classified as ASIA D. Significant differences in FIM motor scores were only found between the tetraplegia group and three other diagnostic groups using Bonferroni post-hoc tests of repeated measure ANOVA (analysis of variance) (P < 0.05). Longitudinally, contrast tests of repeated measure ANOVA showed significant differences during the hospitalization period for all diagnostic groups. People in the ASIA D group showed significant functional improvement even after 1-year post-discharge (P < 0.05). At 1-year post-discharge, only two participants were engaged in either remunerative employment or academic pursuit. Conclusion Despite functional status improvement, few people with traumatic SCI were re-engaged in productive life role 1 year after discharge. Studies with longer follow-up would be beneficial. PMID:23433330

  2. Physiological Responses to Exergaming After Spinal Cord Injury

    PubMed Central

    Burns, Patricia; Kressler, Jochen; Nash, Mark S.

    2012-01-01

    Purpose: To investigate whether exergaming satisfies guideline-based intensity standards for exercise conditioning (40%/50% oxygen uptake reserve [VO2R] or heart rate reserve (HRR), or 64%/70% of peak heart rate [HRpeak]) in persons with paraplegia. Methods: Nine men and women (18-65 years old) with chronic paraplegia (T1-L1, AIS A-C) underwent intensity-graded arm cycle exercise (AE) to evaluate VO2peak and HRpeak. On 2 randomized nonconsecutive days, participants underwent graded exercise using a custom arm cycle ergometer that controls the video display of a Nintendo Gamecube (GameCycle; Three Rivers Holdings LLC, Mesa, AZ) or 15 minutes of incrementally wrist-weighted tennis gameplay against a televised opponent (XaviX Tennis System; SSD Co Ltd, Kusatsu, Japan). Results: GameCycle exergaming (GCE) resistance settings ?0.88 Nm evoked on average ?50% VO2R. During XaviX Tennis System exergaming (XTSE) with wrist weights ?2 lbs, average VO2 reached a plateau of ~40% VO2R. Measurements of HR were highly variable and reached average values ?50% HRR during GCE at resistance settings ?0.88 Nm. During XTSE, average HR did not reach threshold levels based on HRR for any wrist weight (20%-35% HRR). Conclusions: On average, intensity responses to GCE at resistance setting ?0.88 Nm were sufficient to elicit exercise intensities needed to promote cardiorespiratory fitness in individuals with SCI. The ability of XTSE to elicit cardiorespiratory fitness benefits is most likely limited to individuals with very low fitness levels and may become subminimal with time if used as a conditioning stimulus. PMID:23459619

  3. Gait Analysis in Cervical Spondylotic Myelopathy

    PubMed Central

    Endo, Kenji; Suzuki, Hidekazu; Tanaka, Hidetoshi; Shishido, Takaaki; Yamamoto, Kengo

    2015-01-01

    Study Design Gait analysis of patients with cervical spondylotic myelopathy (CSM) by using a sheet-type gait analysis system. Purpose The aim of this study was to compare the gait patterns of patients with CSM, evaluated by the Nurick grades, and to determine the threshold values of gait parameters predicting the occurrence of a fall by using a gait recorder. Overview of Literature Gait disorder due to CSM may progress to severe paraplegia, following even a minor trauma such as a fall. The indications for the surgery of CSM without severe paralysis remain controversial. The quantitative gait analysis and the decision for decompressive surgery in patients with CSM are important in order to prevent severe paraplegia from a fall. Methods One hundred thirty-two subjects (normal, 34; CSM, 98) underwent gait analysis by using a sensor sheet. Measurements of gait cycle parameters included the step and stride length, step width, foot angle, swing phase, and stance phase. CSM was assessed by Nurick grade. Results Although the clinical symptoms were lacking, Nurick grade 1 had significant abnormalities in the parameters of velocity, step length, and step angle (p<0.05). Regarding the Nurick grade and walking phase, the length of the stance phase was increased to more than 70% of the entire walking cycle in Nurick grade 4. Conclusions Gait analysis was an objective tool for evaluating the gait stability. Our results suggested that when the percentage of the stance phase in the gait cycle increases to above 70%, the CSM patients have an increased fall risk. PMID:26097646

  4. Five-Year Longitudinal Bone Evaluations in Individuals With Chronic Complete Spinal Cord Injury

    PubMed Central

    Garland, Douglas E; Adkins, Rodney H; Stewart, Charles A

    2008-01-01

    Background/Objectives: Knowledge of spinal cord injury (SCI) bone changes has been derived primarily through cross-sectional studies, many of which are controvertible. Longitudinal studies are sparse, and long-term longitudinal chronic studies are unavailable. The objective of this study was to provide a clearer perception of chronic longitudinal bone variations in people with complete SCI. Methods: Bone status of 31 individuals with chronic, complete SCI was assessed twice using dual-energy x-ray absorptiometry at an average interval of 5.06 ± 0.9 years. Because the sample of women was small (4), the primary analyses of change and comparisons of those with paraplegia vs tetraplegia were confined to the male participants. Results: Spine Z-scores showed a significant increase (P < 0.0001). The average Z-scores, initial and follow-up, were within the normal range. Hip Z-scores also showed a significant increase (P < 0.0001), and hip bone mineral density (BMD) increased in 48% of the participants. Knee BMD and lower extremity total bone mineral showed significant decreases (P < 0.003 and P < 0.02, respectively), but increases were seen in 33% and 26% at the respective sites. Individuals with tetraplegia had significantly lower values across all regions (P < 0.0001), and changes were significantly different compared with paraplegia (P < 0.0001). Bone values and changes in men vs women, despite the small sample of women, showed highly significant differences (P < 0.003–0.002). Conclusion: Chronic effects of complete SCI do not exclusively result in continued loss of BMD or a static state of lowered BMD; gain in BMD may occur. The nature and magnitude of the effects of complete SCI on BMD vary by site, with sex and level of injury, which has implications for treatment and its assessment. PMID:19086712

  5. Additive Effect of Age on Disability for Individuals with Spinal Cord Injuries

    PubMed Central

    Rodakowski, Juleen; Skidmore, Elizabeth R.; Anderson, Stewart J.; Begley, Amy; Jensen, Mark P.; Buhule, Olive D.; Boninger, Michael L.

    2014-01-01

    Objective To examine the additive effect of age on disability for adults with SCI. Design Prospective cohort study. Setting Spinal Cord Injury Model Systems. Participants The study sample individuals with SCI with a discharge motor-FIM score and at least one follow-up motor-FIM score who also provided measures of other covariates (N=1,660). Seventy-nine percent of the sample was male, 72% was white, 16% had paraplegia, incomplete; 33.0% had paraplegia, complete; 30% had tetraplegia, incomplete; and 21% had tetraplegia, complete. The participants’ median age at injury was 32 years (range, 6–88). Main Outcome Measures The primary study outcome was the motor subscale of the Functional Independence Measure (motor-FIM). We used a mixed models approach to examine the additive effect of age on disability for individuals with SCI. Results When controlling for motor-FIM at discharge from rehabilitation, level and severity of injury, age at injury, gender, and race, the Age × Time interaction was not significant (p=0.07). Age at SCI was significantly associated with motor-FIM (F1,238=22.49, p<0.0001). Two sensitivity analyses found significant interactions for both Age × Time (p=0.03; p=0.02) and Age × Time2 (p=0.01; p=0.006) models. Trajectory of motor-FIM scores are moderated slightly by age at the time of injury. The older participants were at time of injury, the greater curvature and more rapid decline was found in later years. Conclusions These findings indicate that age moderately influences disability for some individuals with SCI, and the older one is upon injury the greater the influence age has on disability. They serve as an important empirical foundation for the evaluation and development of interventions designed to augment accelerated aging experienced by individuals with SCI. PMID:24530841

  6. Preventive Effect of Intrathecal Paracetamol on Spinal Cord Injury in Rats

    PubMed Central

    Sahin, Murat; Sayar, Ilyas; Peker, Kemal; Gullu, Huriye; Yildiz, Huseyin

    2014-01-01

    Background: Ischemic injury of the spinal cord during the surgical repair of thoracoabdominal aortic aneurysms might lead to paraplegia. Although a number of different mechanisms have been proposed, the exact cause of paraplegia has remained unknown, hampering the development of effective pharmacologic or other strategies for prevention of this condition. A number of studies suggested that cyclooxygenases (COX) contribute to neural breakdown; thus, COX inhibitors might reduce injury. Objectives: We aimed to assess the preventive effect of intrathecal (IT) pretreatment with paracetamol on spinal cord injury in a rat model. Materials and Methods: This experimental study was performed in Ataturk University Animal Research Laboratory Center, Erzurum, Turkey. Adult male Wistar rats were randomly allocated to three experimental groups (n = 6) to receive IT physiologic saline (controls), 50 µg of paracetamol, or 100 µg paracetamol one hour before induction of spinal cord ischemia. Six other rats were considered as the sham group. For the assessment of ischemic injury, motor functions of the hind limbs and histopathologic changes of the lumbar spinal cord were evaluated. Additional 20 rats were divided into two equal groups for the second part of the study where the survival rates were recorded in controls and in animals receiving 100 µg of paracetamol during the 28-day observation period. Results: Pretreatment with 100 µg of paracetamol resulted in a significant improvement in motor functions and histopathologic findings (P < 0.05). Despite a higher rate of survival in 100 µg of paracetamol group (70%) at day 28, the difference was not statistically significant in comparison with controls. Conclusions: Our results suggest a protective effect of pretreatment with IT paracetamol on ischemic spinal cord injury during thoracolumbar aortic aneurysm surgery. PMID:25763224

  7. Aculaser therapy for the treatment of cerebral palsy

    NASA Astrophysics Data System (ADS)

    Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Ammad, Haseeb U.

    2012-03-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensoryneural deafness and speech disorders. In all 500 children were treated and the data was gathered during a period of 4 years from December 2006 till December 2010. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for a minimum of 08 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 342 children with Spasticity and Stiffness 294 showed marked improvement showing 87% success rate, out of 252 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 182 children showing 72% success rate, out of 96 children with Cortical Blindness 60 children showed improvement accounting for 63% efficacy rate, out of 210 children with Hearing Difficulties, 126 showed marked improvement accounting for 60% improvement rate, out of 380 children with Speech Disorders 244 showed improvement reflecting 64 % improvement rate, out of 192 children with Hemiplegia 142 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 152 children with Quadriplegia 104 showed improvement in gross and fine motor functions showing 69% success rate and out of 116 children with Paraplegia of lower limbs 88 showed improvement in weight bearing, standing and movement accounting for 76% improvement rate.

  8. Treating cerebral palsy with aculaser therapy

    NASA Astrophysics Data System (ADS)

    Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Dar, Irfan

    2008-03-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness and speech disorders. In all 250 childern were treated and the data was gathered during a period of 3 years from December 2003 till December 2006. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for minimum 6 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 171 children with Spasticity and Stiffness 147 showed marked improvement showing 87% success rate, out of 126 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 91 children showing 72% success rate, out of 48 children with Cortical Blindness 30 children showed improvement accounting for 63% efficacy rate, out of 105 children with Hearing Difficulties, 63 showed marked improvement accounting for 60% improvement rate, out of 190 children with Speech Disorders 122 showed improvement reflecting 64% improvement rate, out of 96 children with Hemiplegia 71 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 76 children with Quadriplegia 52 showed improvement in gross and fine motor functions showing 69% success rate and out of 58 children with Paraplegia of lower limbs 44 showed improvement in weight bearing, standing and movement accounting for 76% improvement rate.

  9. Significance and function of different spinal collateral compartments following thoracic aortic surgery: immediate versus long-term flow compensation.

    PubMed

    Meffert, Philipp; Bischoff, Moritz S; Brenner, Robert; Siepe, Matthias; Beyersdorf, Friedhelm; Kari, Fabian A

    2014-05-01

    Iatrogenic paraplegia has been accompanying cardiovascular surgery since its beginning. As a result, surgeons have been developing many theories about the exact mechanisms of this devastating complication. Thus, the impact of single arteries that contribute to the spinal perfusion is one of the most discussed subjects in modern surgery. The subsequent decision of reattachment or the permanent disconnection of these intercostal arteries divides the surgical community. On the one hand, the anatomical or vascular approach pleads for the immediate reimplantation to reconstruct the anatomical situation. On the other hand, the decision of the permanent disconnection aims at avoiding stealing phenomenon away from the spinal vascular network. This spinal collateral network can be described as consisting of three components-the intraspinal and two paraspinal compartments-that feed the nutrient arteries of the spinal cord. The exact functional impact of the different compartments of the collateral network remains poorly understood. In this review, the function of the intraspinal compartment in the context of collateral network principle as an immediate emergency backup system is described. The exact structure and architectural principles of the intraspinal compartment are described. The critical parameters with regard to the risk of postoperative spinal cord ischaemia are the number of anterior radiculomedullary arteries (ARMAs) and the distance between them in relation to the longitudinal extent of aortic disease. The paraspinal network as a sleeping reserve is proposed as the long-term backup system. This sleeping reserve has to be activated by arteriogenic stimuli. These are presented briefly, and prior findings regarding arteriogenesis are discussed in the light of the collateral network concept. Finally, the role of preoperative visualization of the ARMAs in order to evaluate the risk of postoperative paraplegia is emphasized. PMID:24078102

  10. Non-Traumatic Spontaneous Spinal Subdural Hematoma in a Patient with Non-Valvular Atrial Fibrillation During Treatment with Rivaroxaban

    PubMed Central

    Castillo, Jessica M.; Afanador, Hayley F.; Manjarrez, Efren; Morales, Ximena A.

    2015-01-01

    Patient: Male, 69 Final Diagnosis: Spontaneous spinal subdural hematoma Symptoms: Paraplegia Medication: Rivaroxaban Clinical Procedure: — Specialty: General Internal Medicine • Hospital Medicine • Cardiology • Hematology • Neurology Objective: Diagnostic/therapeutic accidents Background: Spontaneous spinal subdural hematoma (SSDH) is a rare but disabling condition, accounting for only 4.1% of all intraspinal hematomas. Risk factors include arteriovenous malformations, coagulopathy, therapeutic anticoagulation, underlying neoplasms, or following spinal puncture. Vitamin K antagonists, antiplatelet agents, and heparinoids have been associated with SSDHs in prior reports. To the best of our knowledge, no cases have reported this association with the factor Xa inhibitor, rivaroxaban, and SSDHs. Case Report: We report the case of a 69-year-old Honduran man with a 5-year history of symptomatic palpitations due to non-valvular atrial fibrillation. He was initially refractory to pharmacologic therapy. He underwent cardioversion in February 2014. After cardioversion, he remained asymptomatic on flecainide. He was anticoagulated on rivaroxaban 20 mg daily without incident since early 2013 until presentation in August 2014. He presented with sudden onset of excruciating upper and lower back pain after minimal movement. This was immediately followed by bilateral lower extremity paresis rapidly progressing to paraplegia with bowel and bladder dysfunction over 15 minutes. Magnetic resonance imaging demonstrated an acute spinal subdural hematoma extending from T3 inferiorly to the conus medullaris. Six months after undergoing cervical and lumbar drainage procedures, he has not recovered bowel, bladder, or lower extremity neurologic function. Conclusions: Non-traumatic spontaneous spinal subdural hematoma is a rare neurological emergency that may occur during the use of rivaroxaban in patients with non-valvular atrial fibrillation. Physicians should suspect SSDH in patients on rivaroxaban with acute onset of severe back pain and neurologic symptoms to improve the odds of a favorable outcome. PMID:26090890

  11. Brain-computer interface controlled robotic gait orthosis

    PubMed Central

    2013-01-01

    Background Excessive reliance on wheelchairs in individuals with tetraplegia or paraplegia due to spinal cord injury (SCI) leads to many medical co-morbidities, such as cardiovascular disease, metabolic derangements, osteoporosis, and pressure ulcers. Treatment of these conditions contributes to the majority of SCI health care costs. Restoring able-body-like ambulation in this patient population can potentially reduce the incidence of these medical co-morbidities, in addition to increasing independence and quality of life. However, no biomedical solution exists that can reverse this loss of neurological function, and hence novel methods are needed. Brain-computer interface (BCI) controlled lower extremity prostheses may constitute one such novel approach. Methods One able-bodied subject and one subject with paraplegia due to SCI underwent electroencephalogram (EEG) recordings while engaged in alternating epochs of idling and walking kinesthetic motor imagery (KMI). These data were analyzed to generate an EEG prediction model for online BCI operation. A commercial robotic gait orthosis (RoGO) system (suspended over a treadmill) was interfaced with the BCI computer to allow for computerized control. The subjects were then tasked to perform five, 5-min-long online sessions where they ambulated using the BCI-RoGO system as prompted by computerized cues. The performance of this system was assessed with cross-correlation analysis, and omission and false alarm rates. Results The offline accuracy of the EEG prediction model averaged 86.30% across both subjects (chance: 50%). The cross-correlation between instructional cues and the BCI-RoGO walking epochs averaged across all subjects and all sessions was 0.812±0.048 (p-value <10?4). Also, there were on average 0.8 false alarms per session and no omissions. Conclusion These results provide preliminary evidence that restoring brain-controlled ambulation after SCI is feasible. Future work will test the function of this system in a population of subjects with SCI. If successful, this may justify the future development of BCI-controlled lower extremity prostheses for free overground walking for those with complete motor SCI. Finally, this system can also be applied to incomplete motor SCI, where it could lead to improved neurological outcomes beyond those of standard physiotherapy. PMID:24321081

  12. Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

    NASA Astrophysics Data System (ADS)

    Chertemps, Thomas; Montagné, Nicolas; Bozzolan, Françoise; Maria, Annick; Durand, Nicolas; Maïbèche-Coisne, Martine

    2012-07-01

    Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as "maspardin." Maspardin presents similarity to the ?/?-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein-protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog ( SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous "nonmammalian" species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.

  13. Differences between immediate and late onset of spinal cord ischemia after open and endovascular aortic interventions.

    PubMed

    Davidovic, L; Ilic, N; Koncar, I

    2015-10-01

    Spinal cord ischemia remains the most impressive and colliding complication following open surgical and endovascular aortic procedures. Paraparesis and paraplegia are devastating, having a major invalidating impact on the patient's life. Also for the surgeon and the entire team this dramatic adverse event causes a significant concussion. Surgeons faced this problem in practice in the 1950s when this surgery started being applied. Even A. Carrel in 1910 said, "The main danger of the aortic operation does not come from the heart or from the aorta itself, but from the central nervous system". As the number of these surgeries grew, some were followed by the spinal cord ischemia. Now, in 21st century, problem of spinal cord ischemia still exists. By understanding the reasons of its development we shall be able to find more useful methods for prevention as well as for the treatment. The aim of this article was to search what is behind this dreadful complication, explaining different mechanisms which take part in its development during endovascular and open surgical treatment. PMID:25868970

  14. Movement-related cortical potentials in paraplegic patients: abnormal patterns and considerations for BCI-rehabilitation

    PubMed Central

    Xu, Ren; Jiang, Ning; Vuckovic, Aleksandra; Hasan, Muhammad; Mrachacz-Kersting, Natalie; Allan, David; Fraser, Matthew; Nasseroleslami, Bahman; Conway, Bernie; Dremstrup, Kim; Farina, Dario

    2014-01-01

    Non-invasive EEG-based Brain-Computer Interfaces (BCI) can be promising for the motor neuro-rehabilitation of paraplegic patients. However, this shall require detailed knowledge of the abnormalities in the EEG signatures of paraplegic patients. The association of abnormalities in different subgroups of patients and their relation to the sensorimotor integration are relevant for the design, implementation and use of BCI systems in patient populations. This study explores the patterns of abnormalities of movement related cortical potentials (MRCP) during motor imagery tasks of feet and right hand in patients with paraplegia (including the subgroups with/without central neuropathic pain (CNP) and complete/incomplete injury patients) and the level of distinctiveness of abnormalities in these groups using pattern classification. The most notable observed abnormalities were the amplified execution negativity and its slower rebound in the patient group. The potential underlying mechanisms behind these changes and other minor dissimilarities in patients’ subgroups, as well as the relevance to BCI applications, are discussed. The findings are of interest from a neurological perspective as well as for BCI-assisted neuro-rehabilitation and therapy. PMID:25221505

  15. Endovascular repair of traumatic aortic transection.

    PubMed

    Chalvatzoulis, Eleftherios; Megalopoulos, Angelos; Trellopoulos, George; Ananiadou, Olga; Papoulidis, Pavlos; Kemanetzi, Ioanna; Madesis, Athanasios; Drossos, George

    2010-09-01

    The present study reports a single center experience and mid-term results of endovascular repair of acute aortic traumatic transection on an emergency basis, instead of open surgical management. From January 2005 to December 2008, 13 cases of traumatic aortic transection with serious comorbidities, which underwent repair with thoracic stent grafts at our institution, were reviewed. The mean patient age was 32.5+/-7.8 years. During the follow-up period of 25.5+/-12.8 months, 12 patients were alive and one patient died of associated injuries. There were no intraoperative deaths, no incidence of paraplegia and no procedure-related mortality. The blood loses during the procedure were minimal. The thoracic aortic grafts were larger than the thoracic aorta by 12.4+/-5.7%. Five cases required complete or partial coverage of the left subclavian artery. There were two cases of graft collapse, which were successfully treated by endovascular reintervention. Our results suggest that this approach is safe, effective and can be performed with low rates of morbidity and mortality, especially in respect of patients with multiple injuries. Although initial results are encouraging, close long-term follow-up and technical improvements of the stent grafts are required. PMID:20562197

  16. [Silver syndrome--case report].

    PubMed

    Kocha?ski, Andrzej; Dierick, Ines; Timmerman, Vincent; Hausmanowa-Petrusewicz, Irena

    2007-01-01

    Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinical findings. The coexistence of sensory fiber damage and motor deficit leads to the diagnosis of Charcot-Marie-Tooth disease in some patients, while others are diagnosed with spastic paresis due to predominant pyramidal symptoms. If the symptoms are limited to the motor deficit, hereditary motor neuropathy is diagnosed in some cases. In this report, we describe a case of the Silver syndrome in a Polish family that has been verified by genetic testing. Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed. PMID:18224579

  17. Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis

    PubMed Central

    Dodge, James C.; Treleaven, Christopher M.; Pacheco, Joshua; Cooper, Samantha; Bao, Channa; Abraham, Marissa; Cromwell, Mandy; Sardi, S. Pablo; Chuang, Wei-Lien; Sidman, Richard L.; Cheng, Seng H.; Shihabuddin, Lamya S.

    2015-01-01

    Recent genetic evidence suggests that aberrant glycosphingolipid metabolism plays an important role in several neuromuscular diseases including hereditary spastic paraplegia, hereditary sensory neuropathy type 1, and non-5q spinal muscular atrophy. Here, we investigated whether altered glycosphingolipid metabolism is a modulator of disease course in amyotrophic lateral sclerosis (ALS). Levels of ceramide, glucosylceramide, galactocerebroside, lactosylceramide, globotriaosylceramide, and the gangliosides GM3 and GM1 were significantly elevated in spinal cords of ALS patients. Moreover, enzyme activities (glucocerebrosidase-1, glucocerebrosidase-2, hexosaminidase, galactosylceramidase, ?-galactosidase, and ?-galactosidase) mediating glycosphingolipid hydrolysis were also elevated up to threefold. Increased ceramide, glucosylceramide, GM3, and hexosaminidase activity were also found in SOD1G93A mice, a familial model of ALS. Inhibition of glucosylceramide synthesis accelerated disease course in SOD1G93A mice, whereas infusion of exogenous GM3 significantly slowed the onset of paralysis and increased survival. Our results suggest that glycosphingolipids are likely important participants in pathogenesis of ALS and merit further analysis as potential drug targets. PMID:26056266

  18. The ergonomics of different tyres and tyre pressure during wheelchair propulsion.

    PubMed

    Sawatzky, Bonita J; Kim, Won O; Denison, Ian

    2004-11-01

    It is believed that the newer solid tyres on wheelchairs perform as well as pneumatic tyres along with less cost and time for maintenance. The questions are: (1) do solid tyres perform as well as pneumatic tyres and (2) what is the critical level of pneumatic tyre pressure before wheeling efficiency decreases? Part one measured the rolling resistance differences of five commonly used wheelchair tyres (three pneumatic and two solid) under four different tyre pressures (100, 75, 50 and 25 of inflation). Part two measured the oxygen consumption in 15 participants with paraplegia, during wheelchair propulsion, comparing the same four levels of tyre inflation. The solid tyres performed worse than all three pneumatic tyres even when tyres were under-inflated to 25% of tyre pressure. Two of the pneumatic tyres showed significant decreases in rolling between 100 and 50%, but there were no significant differences in rolling distance between 100 and 75% pressure. The physiological study showed that energy expenditure increased significantly at 50% of tyre-inflation. Health care facilities are finding ways to decrease cost by using solid tyres on all wheelchairs. This study shows that benefits to clients and staff using pneumatic tyres far outweigh the minimal cost in time to maintain adequate tyre inflation. PMID:15697064

  19. Discrimination towards disabled people seeking employment.

    PubMed

    Ravaud, J F; Madiot, B; Ville, I

    1992-10-01

    This research was undertaken to determine whether or not disabled persons are at a disadvantage when seeking employment. An experimental design--mailing unsolicited job applications to employers--in a natural social setting allowed a study of employer's behaviour under naturalistic conditions. A randomized comparative study was conducted on a representative sample of 2228 branches of French companies, stratified as a function of their size. Four different profiles of applications were constituted by crossing two independent variables: the presence or absence of mention of a physical deficiency (paraplegia, with a wheelchair) in the job application, and high or low level of qualification. Using random sampling, the investigators sent each company an application for a job using one of these four profiles. Two experimental groups of companies were constituted (each of which received an application with either high or low qualification and mention of disability) with two control groups (applications with high/low qualification, without mention of disability). It was found that highly qualified able-bodied applicants were 1.78 times more likely to receive a favorable response than their disabled counterparts, and modestly qualified able-bodied applicants were 3.2 times more likely to receive a positive response. As well, discrimination became more marked as company size increased. In comparison with laboratory experiments, the results of this research permit a more objective assessment of discriminatory behaviour by companies confronted by disabled job applicants, and show a significant amount of discrimination towards individuals with a physical disability. PMID:1411702

  20. The retromer complex – endosomal protein recycling and beyond

    PubMed Central

    Seaman, Matthew N. J.

    2012-01-01

    Summary The retromer complex is a vital element of the endosomal protein sorting machinery that is conserved across all eukaryotes. Retromer is most closely associated with the endosome-to-Golgi retrieval pathway and is necessary to maintain an active pool of hydrolase receptors in the trans-Golgi network. Recent progress in studies of retromer have identified new retromer-interacting proteins, including the WASH complex and cargo such as the Wntless/MIG-14 protein, which now extends the role of retromer beyond the endosome-to-Golgi pathway and has revealed that retromer is required for aspects of endosome-to-plasma membrane sorting and regulation of signalling events. The interactions between the retromer complex and other macromolecular protein complexes now show how endosomal protein sorting is coordinated with actin assembly and movement along microtubules, and place retromer squarely at the centre of a complex set of protein machinery that governs endosomal protein sorting. Dysregulation of retromer-mediated endosomal protein sorting leads to various pathologies, including neurodegenerative diseases such as Alzheimer disease and spastic paraplegia and the mechanisms underlying these pathologies are starting to be understood. In this Commentary, I will highlight recent advances in the understanding of retromer-mediated endosomal protein sorting and discuss how retromer contributes to a diverse set of physiological processes. PMID:23148298

  1. Grave's Disease with Severe Hepatic Dysfunction: A Diagnostic and Therapeutic Challenge.

    PubMed

    Bhuyan, Ashok Krishna; Sarma, Dipti; Kaimal Saikia, Uma; Choudhury, Bipul Kumar

    2014-01-01

    Hepatic dysfunction in a patient with thyrotoxicosis may result from hyperthyroidism per se, as a side effect of antithyroid drugs, and causes unrelated to hyperthyroidism which sometimes causes diagnostic and therapeutic difficulties. A young female patient was admitted to our hospital with symptoms of thyrotoxicosis, diffuse goiter and ophthalmopathy along with cholestatic pattern of jaundice, and proximal muscle weakness. She was treated with propylthiouracil with gradual recovery. She was continuing her antithyroid medication with regular follow-up. The patient was readmitted a few months later with worsening thyrotoxicosis, proximal muscle weakness, fever, and a hepatocellular pattern of jaundice with sepsis. Propylthiouracil was stopped and lithium along with steroid coverage was given to control her thyrotoxicosis which was later changed to methimazole. Broad spectrum antibiotic therapy was also started but without any response. During her hospital stay, the patient also developed a flaccid paraplegia resembling Guillain-Barre syndrome. IV steroid was started for the neuropathy but meanwhile the patient succumbed to her illness. So in centers where facility for radioiodine therapy is not readily available, some definite well-tested protocols should be formulated to address such common but complicated clinical situations. PMID:25317178

  2. Combination of icotinib, surgery, and internal-radiotherapy of a patient with lung cancer severely metastasized to the vertebrae bones with EGFR mutation: a case report

    PubMed Central

    Qu, Li-Li; Qin, Hai-Feng; Gao, Hong-Jun; Liu, Xiao-Qing

    2015-01-01

    A 48-year-old Chinese female was referred to us regarding EGFR-mutated advanced non-small cell lung cancer, and metastasis to left scapula and vertebrae bones which caused pathological fracture at T8 and T10 thoracic vertebrae. An aggressive combined therapy with icotinib, vertebrae operation, and radioactive particle implantation and immunotherapy was proposed to prevent paraplegia, relieve pain, and control the overall and local tumor lesions. No postoperative symptoms were seen after surgery, and the pain was significantly relieved. Icotinib merited a 31-month partial response with grade 1 diarrhea as its drug-related adverse event. High dose of icotinib was administered after pelvis lesion progression for 3 months with good tolerance. Combination therapy of icotinib, surgery, and internal radiation for metastases of the vertebrae bones from non-small cell lung cancer seems to be a very promising technique both for sufficient pain relief and for local control of the tumor, vertebrae operation can be an encouraging option for patients with EFGR positive mutation and good prognosis indicator.

  3. Cerebrospinal fluid lavage in the treatment of inadvertent intrathecal vincristine injection.

    PubMed

    Al Ferayan, A; Russell, N A; Al Wohaibi, M; Awada, A; Scherman, B

    1999-03-01

    Vincristine, a widely used antineoplastic agent, is extremely toxic to the central nervous system. If given intrathecally, it produces a rapidly ascending, usually fatal, neuromyeloencephalopathy. We report a case of this complication in a 7-year-old girl with acute lymphoblastic leukemia who was receiving maintenance chemotherapy. During one treatment 0.5 mg of vincristine was erroneously injected into the lumbar subarachnoid space. Cerebrospinal fluid lavage was established within 2 h and continued for 24 h. After 7 days she developed a progressive sensorimotor paraplegia, which eventually stabilized as a paraparesis. Neurophysiological studies were consistent with an axonal type sensorimotor neuropathy. Magnetic resonance imaging of the spine was normal. Vincristine binds to cells, blocking mitosis, thus causing cell death. The associated central nervous system lesions are those of an ascending chemical leptomeningitis and ventriculitis. Cerebrospinal fluid lavage dilutes and removes the drug, thus limiting neural damage. At present this is the only treatment for intrathecal vincristine injection, and its early use in such an event is considered mandatory. PMID:10230662

  4. Comparison of heart rate response to tennis activity between persons with and without spinal cord injuries: implications for a training threshold.

    PubMed

    Barfield, J P; Malone, Laurie A; Coleman, Tristica A

    2009-03-01

    The purpose of this study was to evaluate the ability of individuals with spinal cord injury (SCI) to reach a training threshold during on-court sport activity. Monitors collected heart rate (HR) data every 5 s for 11 wheelchair tennis players (WCT) with low paraplegia and 11 able-bodied controls matched on experience and skill level (ABT). Average HR was determined for time spent in practice (e.g, drills) and game (i.e., a competitive set), and the ability to surpass 50% peak HR (HRpeak) and 64% HRpeak in each condition was evaluated. Average exercise intensity (%HRpeak) was not significantly different between the groups during practice (M WCT = 68.18, SD = 7.53%, M ABT = 68.78, SD = 5.44%; t = .22, p = .83) or game (M WCT = 68.17, SD = .17%, M ABT = 71.55, SD = 4.75%; t = 1.12, p =.28). Allparticipants averaged an intensity > or = 50% HR-peak during practice and game, and the difference between group participants averaging an intensity > or = 64% HRpeak was not significant during practice (chi2 = .92, p = .34) or game (chi2 = 3.85, p = .05). In terms of reaching a health and fitness training threshold during tennis, individuals with low-level SCI are similar to matched controls. PMID:19408469

  5. [Dermal sinus: a neurosurgical emergency].

    PubMed

    Lallemant, P; Forin, V

    2015-03-01

    Spinal dysraphisms include various types of congenital malformations. About 10% are dermal sinuses, i.e., a connection between the skin elements and intradural space through an open tract. The major complication of this malformation is a central nervous system infection that occurs most frequently before the age of 5 years. We report the case of a lumbosacral skin defect initially described as a coccygeal pit, which happened to be a dermal sinus with a tethered cord after ultrasound imaging in a newborn infant. No indication for surgery was recognized. Later, the infant experienced cerebral empyema and spinal cord edema when he was 5 months old, while a second infection, with a medullar abscess, occurred 7 months later. Both infections began with high fever and were complicated by neurologic deficits. An emergency surgery was performed during the second myelitis. The operative findings confirmed a dermal sinus and a tethered cord. Moreover, they found a dermoid cyst next to the tract. After 2 years of recovery, the child has neurologic deficits including lower limb paraplegia with neurological bladder and bowel. This observation recalls the importance of the differential diagnosis between a coccygeal pit and a dermal sinus, the latter being associated with a dermoid cyst in 50% of cases. Serious neurologic consequences due to the possible infectious complications can occur when a dermal sinus is neglected. A preventive operative excision of both the dermal sinus and a possible cyst is a surgical emergency for spinal dysraphism. PMID:25656457

  6. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

    PubMed

    Guelly, Christian; Zhu, Peng-Peng; Leonardis, Lea; Papi?, Lea; Zidar, Janez; Schabhüttl, Maria; Strohmaier, Heimo; Weis, Joachim; Strom, Tim M; Baets, Jonathan; Willems, Jan; De Jonghe, Peter; Reilly, Mary M; Fröhlich, Eleonore; Hatz, Martina; Trajanoski, Slave; Pieber, Thomas R; Janecke, Andreas R; Blackstone, Craig; Auer-Grumbach, Michaela

    2011-01-01

    Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating distal amputations. To elucidate the genetic basis of an HSN I subtype in a family in which mutations in the few known HSN I genes had been excluded, we employed massive parallel exon sequencing of the 14.3 Mb disease interval on chromosome 14q. We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-related GTPase atlastin-1. The mutant protein exhibited reduced GTPase activity and prominently disrupted ER network morphology when expressed in COS7 cells, strongly supporting pathogenicity. An expanded screen in 115 additional HSN I patients identified two further dominant ATL1 mutations (c.196G>C [p.Glu66Gln] and c.976 delG [p.Val326TrpfsX8]). This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies HSN I and SPG3A as allelic disorders. PMID:21194679

  7. A conserved amphipathic helix is required for membrane tubule formation by Yop1p

    PubMed Central

    Brady, Jacob P.; Claridge, Jolyon K.; Smith, Peter G.; Schnell, Jason R.

    2015-01-01

    The integral membrane proteins of the DP1 (deleted in polyposis) and reticulon families are responsible for maintaining the high membrane curvature required for both smooth endoplasmic reticulum (ER) tubules and the edges of ER sheets, and mutations in these proteins lead to motor neuron diseases, such as hereditary spastic paraplegia. Reticulon/DP1 proteins contain reticulon homology domains (RHDs) that have unusually long hydrophobic segments and are proposed to adopt intramembrane helical hairpins that stabilize membrane curvature. We have characterized the secondary structure and dynamics of the DP1 family protein produced from the YOP1 gene (Yop1p) and identified a C-terminal conserved amphipathic helix (APH) that, on its own, interacts strongly with negatively charged membranes and is necessary for membrane tubule formation. Analyses of DP1 and reticulon family members indicate that most, if not all, contain C-terminal sequences capable of forming APHs. Together, these results indicate that APHs play a previously unrecognized role in RHD membrane curvature stabilization. PMID:25646439

  8. Endovascular Surgery for Traumatic Thoracic Aortic Injury: Our Experience with Five Cases, Two of Whom were Young Patients

    PubMed Central

    Matsumoto, Takashi; Matsuyama, Sho; Fukumura, Fumio; Ando, Hiromi; Tanaka, Jiro; Uchida, Takayuki

    2014-01-01

    Objectives: We present our experience of endovascular surgery for traumatic aortic injury and the results of our procedures. Materials and Methods: From January 2009 to December 2013, we performed endovascular repairs of traumatic thoracic aortic injury on 5 male patients 16–75 years old (mean, 50.8), two of whom were young. Three of the patients had multiple organ injuries. The mean interval time to the operation is 22.0 hours (range, 10–36). All patients underwent endovascular repair with heparinization. The isthmus regions were seen in three cases and all of them were needed left subclavian artery (LSA) coverage. In the two young patients, the deployed stent graft was 22 mm (22.2% oversizing for diameter of aorta) and 26 mm (36.8% oversizing), respectively. Results: The procedures were successful in all patients, with no early mortality, paraplegia or stroke. During 3–63 months (mean, 30.8) follow-up period, no one experienced stent graft-related complications. One patient with LSA coverage experienced arm ischemia but the symptom improved with time. Conclusion: Endovascular surgery for traumatic thoracic aortic injury can be performed safely with low mortality or morbidity even in young small aorta. Accumulation of clinical experience and evaluation of long-term outcomes are necessary. PMID:25298833

  9. Neuromuscular scoliosis.

    PubMed

    Allam, Anand M; Schwabe, Aloysia L

    2013-11-01

    The purpose of this focused review is to provide an overview of neuromuscular scoliosis from the perspective of the rehabilitation physician. Scoliosis is a common consequence of neuromuscular diseases, including central nervous system disorders such as cerebral palsy and spinal cord injury; motor neuron disorders, for example, spinal muscular atrophy; muscle fiber disorders, for example, Duchenne muscular dystrophy; multifactorial disorders, for example, spina bifida; and many other neuropathic and myopathic conditions. Unlike adolescent idiopathic scoliosis, which is the most common form of spinal deformity, neuromuscular scoliosis is more severe and more progressive, and is associated with more morbidity. Factors that contribute to this spinal deformity include asymmetric paraplegia, imbalance of mechanical forces, intraspinal and congenital anomalies of the spine, altered sensory feedback, and abnormal posture via central pathways. Spinal deformity combined with limitations due to an underlying neuromuscular condition lead to significant physiologic impairments that affect limb movement, cardiopulmonary function, gait, standing, sitting, balance, trunk stability, bimanual activities, activities of daily living, and pain, as well as concerns with self-image and social interactions. Evaluation and management of this population requires understanding of disease progression, pulmonary status, functional limitations, indications for conservative and surgical interventions, and social considerations. PMID:24247014

  10. Spinal tuberculosis: A review

    PubMed Central

    Garg, Ravindra Kumar; Somvanshi, Dilip Singh

    2011-01-01

    Spinal tuberculosis is a destructive form of tuberculosis. It accounts for approximately half of all cases of musculoskeletal tuberculosis. Spinal tuberculosis is more common in children and young adults. The incidence of spinal tuberculosis is increasing in developed nations. Genetic susceptibility to spinal tuberculosis has recently been demonstrated. Characteristically, there is destruction of the intervertebral disk space and the adjacent vertebral bodies, collapse of the spinal elements, and anterior wedging leading to kyphosis and gibbus formation. The thoracic region of vertebral column is most frequently affected. Formation of a ‘cold’ abscess around the lesion is another characteristic feature. The incidence of multi-level noncontiguous vertebral tuberculosis occurs more frequently than previously recognized. Common clinical manifestations include constitutional symptoms, back pain, spinal tenderness, paraplegia, and spinal deformities. For the diagnosis of spinal tuberculosis magnetic resonance imaging is more sensitive imaging technique than x-ray and more specific than computed tomography. Magnetic resonance imaging frequently demonstrates involvement of the vertebral bodies on either side of the disk, disk destruction, cold abscess, vertebral collapse, and presence of vertebral column deformities. Neuroimaging-guided needle biopsy from the affected site in the center of the vertebral body is the gold standard technique for early histopathological diagnosis. Antituberculous treatment remains the cornerstone of treatment. Surgery may be required in selected cases, e.g. large abscess formation, severe kyphosis, an evolving neurological deficit, or lack of response to medical treatment. With early diagnosis and early treatment, prognosis is generally good. PMID:22118251

  11. Three Routes to Suppression of the Neurodegenerative Phenotypes Caused by Kinesin Heavy Chain Mutations

    PubMed Central

    Djagaeva, Inna; Rose, Debra J.; Lim, Angeline; Venter, Chris E.; Brendza, Katherine M.; Moua, Pangkong; Saxton, William M.

    2012-01-01

    Kinesin-1 is a motor protein that moves stepwise along microtubules by employing dimerized kinesin heavy chain (Khc) subunits that alternate cycles of microtubule binding, conformational change, and ATP hydrolysis. Mutations in the Drosophila Khc gene are known to cause distal paralysis and lethality preceded by the occurrence of dystrophic axon terminals, reduced axonal transport, organelle-filled axonal swellings, and impaired action potential propagation. Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot–Marie–Tooth type 2 (CMT2) distal neuropathies. By comparing the phenotypes and the complementation behaviors of a large set of Khc missense alleles, including one that is identical to a human Kif5A HSP allele, we identified three routes to suppression of Khc phenotypes: nutrient restriction, genetic background manipulation, and a remarkable intramolecular complementation between mutations known or likely to cause reciprocal changes in the rate of microtubule-stimulated ADP release by kinesin-1. Our results reveal the value of large-scale complementation analysis for gaining insight into protein structure–function relationships in vivo and point to possible paths for suppressing symptoms of HSP and related distal neuropathies. PMID:22714410

  12. Endovascular repair of thoracic and abdominal aortic ruptures: a single-center experience

    PubMed Central

    ?slim, Filiz; Sal?k, Aysun Erbahçeci; Güven, Koray; Bakuy, Vedat; Çukurova, Zafer

    2014-01-01

    PURPOSE We aimed to present our preliminary single-center experience of the endovascular management of thoracic and abdominal aortic ruptures. MATERIALS AND METHODS Between September 2010 and May 2012, 11 consecutive patients (nine males, two females; age range, 26–80 years) with thoracic and abdominal aortic ruptures underwent endovascular repair in our unit. Thoracoabdominal computed tomography (CT) angiography was performed for diagnosis and follow-up. Patients were selected for endovascular repair by a cardiovascular surgeon, anesthesiologist, and interventional radiologist. All repairs were performed using commercially available stent-grafts. The patients were followed up with CT angiography before discharge, at six months, and yearly thereafter. RESULTS Three patients died by day 30. One patient died due to an unsuccessful procedure and hemodynamic instability; two patients died because of comorbidities. The other eight patients were followed for six to 24 months after the procedure. No endoleaks or late ruptures were observed during the follow-up period. The patient with iatrogenic thoracic aortic rupture developed paraplegia after the procedure. CONCLUSION Reduced mortality due to aortic rupture has been reported with the expanding use of endovascular repair. Reports of small centers are important because of the rarity of these pathologies, and because transferring patients with aortic rupture to a referral center is not usually possible. PMID:24412816

  13. Subunit Interactions and Cooperativity in the Microtubule-severing AAA ATPase Spastin*

    PubMed Central

    Eckert, Thomas; Link, Susanne; Le, Doan Tuong-Van; Sobczak, Jean-Philippe; Gieseke, Anja; Richter, Klaus; Woehlke, Günther

    2012-01-01

    Spastin is a hexameric ring AAA ATPase that severs microtubules. To see whether the ring complex funnels the energy of multiple ATP hydrolysis events to the site of mechanical action, we investigate here the cooperativity of spastin. Several lines of evidence indicate that interactions among two subunits dominate the cooperative behavior: (i) the ATPase activity shows a sigmoidal dependence on the ATP concentration; (ii) ATP?S displays a mixed-inhibition behavior for normal ATP turnover; and (iii) inactive mutant subunits inhibit the activity of spastin in a hyperbolic dependence, characteristic for two interacting species. A quantitative model based on neighbor interactions fits mutant titration experiments well, suggesting that each subunit is mainly influenced by one of its neighbors. These observations are relevant for patients suffering from SPG4-type hereditary spastic paraplegia and explain why single amino acid exchanges lead to a dominant negative phenotype. In severing assays, wild type spastin is even more sensitive toward the presence of inactive mutants than in enzymatic assays, suggesting a weak coupling of ATPase and severing activity. PMID:22637577

  14. Guillain-Barré syndrome and related conditions in Victorian teaching hospitals 1980-84.

    PubMed

    Storey, E; Cook, M; Peppard, R; Newton-John, H; Byrne, E

    1989-12-01

    Cases of Guillain-Barré syndrome, its variants, and chronic inflammatory demyelinating neuropathy presenting during the period 1980-84 were identified through computer-based record systems. Case notes were examined, and cases that did not meet standard criteria for diagnosis were excluded. A hundred and ten patients were identified, giving an annual adult incidence rate of 0.9/100,000 and a male:female ratio of 1.3:1. The majority of cases developed severe tetraparesis, but unusual presentations included the Miller-Fisher variant, paraplegia, and bibrachial involvement. There was wide variation in peak disability, ranging from ambulant with weakness (32%), through bedfast but without significant respiratory involvement (29%), to respiratory involvement requiring admission to an intensive care unit (38%). Of those discharged directly home, the average hospital stay for those less than 50 years was 27 days, whilst that for those over 50 was 49 days. CSF protein was measured in 87 patients, and was greater than or equal to 0.6 g/L in 76% of these. Nerve conduction studies were performed in 52 patients, and were abnormal in 90% of these. Guillain-Barré syndrome and allied conditions represent a major drain on health resources, and the need to provide adequate plasmapheresis facilities for patients early in the course of severe disease is stressed. PMID:2631660

  15. Novel mutational mechanism in man: Expansion of trinucleotide repeats

    SciTech Connect

    Ilarioshkin, S.N.; Ivanova-Smolenskaya, I.A.; Markova, E.D. [Research Institute of Neurology, Moscow (Russian Federation)

    1995-11-01

    An analysis of a novel, recently discovered class of mutations in man - an expansion, i.e., an increase of the copy number of intragenic unstable trinucleotide repeats - is presented. The expansion of trinucleotide X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE), myotonic dystrophy, spinal and bulbar Kennedy`s amyotrophy, Huntington`s chorea, type 1 spinocerebellar ataxia, and dentatorubral-pallidolyusian atrophy. The discovery of triplet expansion allows a satisfactory explanation on the molecular level of a series of unusual clinical genetic phenomena, such as anticipation, the {open_quotes}paternal transmission{close_quotes} effect, the {open_quotes}Sherman paradox,{close_quotes} and others. The common properties and the distinctions of unstable trinucleotide mutations in the nosologic forms mentioned above are analyzed comprehensively. These features include the mechanism by which these mutations cause disease, the time of their appearance in ontogenesis, and various clinical genetic correlations. The evolutionary origin of this class of mutations and, in particular, the role of alleles with an {open_quotes}intermediate{close_quotes} triplet number, which are the persistent reservoir of mutations arising de novo in a population, are also discussed. The possible implication of unstable trinucleotide repeats for a series of other hereditary diseases, such as type 2, spinocerebellar ataxia, Machado-Joseph disease, hereditary spastic paraplegia, essential tremor, schizophrenia, and others, is also suggested. 108 refs., 1 tab.

  16. Long-Term Results of Endovascular Repair for Distal Arch and Descending Thoracic Aortic Aneurysms Treated by Custom-Made Endografts: Usefulness of Fenestrated Endografts

    PubMed Central

    Nakamura, Kunihide; Nagahama, Hiroyuki; Nina, Katsuhiko; Endou, Jouji; Kojima, Kazushi; Nishimura, Masanori; Ishii, Hirohito; Yokota, Atsuko

    2014-01-01

    Objective: We evaluated early and long-term results of atherosclerotic aneurysm repair with custom-made endografts. Materials and Methods: Eighty-one consecutive patients underwent thoracic endovascular aortic repair with custom-made endografts. Fenestrated grafts were used in 37 patients (45.7%) to maintain blood flow of the neck and a landing zone for as long as possible for distal arch or proximal descending aneurysms. The rates of perioperative mortality, stroke, paraplegia, and primary endoleaks were assessed to evaluate in-hospital safety. The rates of endoleak development, survival, and freedom from aortic-related death were assessed to evaluate long-term efficiency. Results: Twenty-four patients (29.6%) underwent urgent operations, and 38 (46.9%) underwent distal arch or proximal descending aortic aneurysm repair. There was one case (1.2%) of in-hospital mortality and no cases of stroke. Permanent spinal injury occurred in one patient (1.2%). Early and late endoleaks occurred in one and 16 patients, respectively. The actuarial survival rates were 88.9%, 64.9%, and 51.7% at 1, 5, and 10 years, respectively. The actuarial rates of freedom from endoleaks were 90.1%, 81.3%, and 68.6% at 1, 5, and 10 years, respectively. Conclusion: Early results of custom-made endografts were excellent, and fenestrated endografts were safe for distal arch and proximal descending aortic aneurysms. PMID:25593623

  17. Sliding and Lower Limb Mechanics during Sit-Stand-Sit Transitions with a Standing Wheelchair

    PubMed Central

    Fang, Wei-Chien; Chang, Jyh-Jong; Kuo, Chang-Chih

    2014-01-01

    Purpose. This study aimed to investigate the shear displacement between the body and backrest/seat, range of motion (ROM), and force acting on the lower limb joints during sit-stand-sit transitions by operating an electric-powered standing wheelchair. Methods and Materials. The amounts of sliding along the backrest and the seat plane, ROM of lower limb joints, and force acting on the knee/foot were measured in twenty-four people with paraplegia. Results. Without an antishear mechanism, the shear displacement was approximately 9 cm between the user's body and the backrest/seat surfaces. During standing up, the user's back slid down and the thigh was displaced rearward, but they moved in opposite directions when wheelchair sat back down. A minimum of 60 degrees of ROM at the hip and knee was needed during sit-stand-sit transitions. The maximal resultant forces acting on the knee restraints could reach 23.5% of body weight. Conclusion. Sliding between the body and backrest/seat occurred while transitioning from sitting to standing and vice versa. A certain amount of ROM at lower limb joints and force acting on the knee was necessitated during sit-stand-sit transitions. Careful consideration needs to be given to who the user of the electric powered standing wheelchair is. PMID:25105120

  18. Unique function of Kinesin Kif5A in localization of mitochondria in axons.

    PubMed

    Campbell, Philip D; Shen, Kimberle; Sapio, Matthew R; Glenn, Thomas D; Talbot, William S; Marlow, Florence L

    2014-10-29

    Mutations in Kinesin proteins (Kifs) are linked to various neurological diseases, but the specific and redundant functions of the vertebrate Kifs are incompletely understood. For example, Kif5A, but not other Kinesin-1 heavy-chain family members, is implicated in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its involvement in the progressive axonal degeneration characteristic of these diseases is not well understood. We report that zebrafish kif5Aa mutants exhibit hyperexcitability, peripheral polyneuropathy, and axonal degeneration reminiscent of CMT and HSP. Strikingly, although kif5 genes are thought to act largely redundantly in other contexts, and zebrafish peripheral neurons express five kif5 genes, kif5Aa mutant peripheral sensory axons lack mitochondria and degenerate. We show that this Kif5Aa-specific function is cell autonomous and is mediated by its C-terminal tail, as only Kif5Aa and chimeric motors containing the Kif5Aa C-tail can rescue deficits. Finally, concurrent loss of the kinesin-3, kif1b, or its adaptor kbp, exacerbates axonal degeneration via a nonmitochondrial cargo common to Kif5Aa. Our results shed light on Kinesin complexity and reveal determinants of specific Kif5A functions in mitochondrial transport, adaptor binding, and axonal maintenance. PMID:25355224

  19. Spontaneous epidural hematoma of spine associated with clopidogrel: A case study and review of the literature.

    PubMed

    Bhat, Khalid Javid; Kapoor, Sidhart; Watali, Yamin Zahoor; Sharma, Jaggatar Ram

    2015-01-01

    Spontaneous spinal epidural hematoma (SSEH) is an uncommon neurological emergency which can present with the features ranging from simple back pain with radiculopathy to complete paraplegia or quadriplegia depending on the site and severity of the compression. Spinal hemorrhage associated with anti-platelet drugs is rarely seen. We report a case of SSEH in a 68-year-old hypertensive male who was on a low dose clopidogrel for secondary stroke prophylaxis and presented with bilateral lower limb paralysis, preceeded by severe back bain. A spinal magnetic resonance imaging scan was performed which revealed a posterior epidural hematoma of the thoraco-lumbar spine. To the best of our knowledge, not more than four cases of clopidogrel related spinal epidural hematoma have been reported. Emergent decompressive laminectomy was done within 4 hours of the presentation with excellent clinical outcome. Clinicians should, therefore, consider the remote risk of SSEH in hypertensive patients who are on anti-platelet drugs as early decompressive laminectomy and evacuation of the hematoma minimizes the permanent neurological damage. PMID:25767588

  20. Spontaneous epidural hematoma of spine associated with clopidogrel: A case study and review of the literature

    PubMed Central

    Bhat, Khalid Javid; Kapoor, Sidhart; Watali, Yamin Zahoor; Sharma, Jaggatar Ram

    2015-01-01

    Spontaneous spinal epidural hematoma (SSEH) is an uncommon neurological emergency which can present with the features ranging from simple back pain with radiculopathy to complete paraplegia or quadriplegia depending on the site and severity of the compression. Spinal hemorrhage associated with anti-platelet drugs is rarely seen. We report a case of SSEH in a 68-year-old hypertensive male who was on a low dose clopidogrel for secondary stroke prophylaxis and presented with bilateral lower limb paralysis, preceeded by severe back bain. A spinal magnetic resonance imaging scan was performed which revealed a posterior epidural hematoma of the thoraco-lumbar spine. To the best of our knowledge, not more than four cases of clopidogrel related spinal epidural hematoma have been reported. Emergent decompressive laminectomy was done within 4 hours of the presentation with excellent clinical outcome. Clinicians should, therefore, consider the remote risk of SSEH in hypertensive patients who are on anti-platelet drugs as early decompressive laminectomy and evacuation of the hematoma minimizes the permanent neurological damage. PMID:25767588

  1. A network of genetic repression and derepression specifies projection fates in the developing neocortex

    PubMed Central

    Srinivasan, Karpagam; Leone, Dino P.; Bateson, Rosalie K.; Dobreva, Gergana; Kohwi, Yoshinori; Kohwi-Shigematsu, Terumi; Grosschedl, Rudolf; McConnell, Susan K.

    2012-01-01

    Neurons within each layer in the mammalian cortex have stereotypic projections. Four genes—Fezf2, Ctip2, Tbr1, and Satb2—regulate these projection identities. These genes also interact with each other, and it is unclear how these interactions shape the final projection identity. Here we show, by generating double mutants of Fezf2, Ctip2, and Satb2, that cortical neurons deploy a complex genetic switch that uses mutual repression to produce subcortical or callosal projections. We discovered that Tbr1, EphA4, and Unc5H3 are critical downstream targets of Satb2 in callosal fate specification. This represents a unique role for Tbr1, implicated previously in specifying corticothalamic projections. We further show that Tbr1 expression is dually regulated by Satb2 and Ctip2 in layers 2–5. Finally, we show that Satb2 and Fezf2 regulate two disease-related genes, Auts2 (Autistic Susceptibility Gene2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular handle to investigate circuit disorders in neurodevelopmental diseases. PMID:23144223

  2. Neuroprotective effect of curcumin on spinal cord in rabbit model with ischemia/reperfusion

    PubMed Central

    Liu, Zhi-Qiang; Xing, Shan-Shan; Zhang, Wei

    2013-01-01

    Background Ischemic/reperfusion (I/R) injury of the spinal cord is a serious complication that can result from thoracoabdominal aortic surgery. Objective To investigate the neuroprotective effect of curcumin against I/R injury in a rabbit model. Methods A total of 36 rabbits were randomly divided into three groups: sham, I/R, and curcumin-treated group. Rabbits were subject to 30-min aortic occlusion to induce transient spinal cord ischemia. Neurological function was observed after reperfusion and spinal cord segment (L3–L5) was collected for histopathological evaluation. Malondialdehyde (MDA) and total superoxide dismutase (SOD) activity were also assayed. Results Rabbits in I/R group were induced to paraplegia. While after 48-hour treatment, compared with I/R group, curcumin significantly improved neurological function, reduced cell apoptosis and MDA levels as well as increased SOD activity (P < 0.05). Conclusions The results suggest that curcumin, at least in an animal model, can attenuate transient spinal cord ischemic injury potentially via reducing oxidative damage, which may provide a novel approach in the treatment of spinal cord ischemic injury. PMID:23809530

  3. Spastin-Interacting Protein NA14/SSNA1 Functions in Cytokinesis and Axon Development

    PubMed Central

    Chang, Jaerak; Blackstone, Craig

    2014-01-01

    Hereditary spastic paraplegias (HSPs) are a genetically diverse group of inherited neurological disorders (SPG1-72) with the cardinal feature of prominent lower-extremity spasticity due to a length-dependent axonopathy of corticospinal motor neurons. The most frequent form of autosomal dominant HSP results from mutations of the SPG4 gene product spastin. This is an ATPase associated with diverse cellular activities (AAA) protein that binds to and severs microtubules. While spastin participates in crucial cellular processes such as cytokinesis, endosomal tubulation, and axon development, its role in HSP pathogenesis remains unclear. Spastin interacts in cells with the NA14 protein, a major target for auto-antibodies in Sjögren's syndrome (nuclear autoantigen 1; SSNA1). Our analysis of endogenous spastin and NA14 proteins in HeLa cells and rat cortical neurons in primary culture revealed a clear distribution of both proteins to centrosomes, with NA14 localizing specifically to centrioles. Stable NA14 knockdown in cell lines dramatically affected cell division, in particular cytokinesis. Furthermore, overexpression of NA14 in neurons significantly increased axon outgrowth and branching, while also enhancing neuronal differentiation. We postulate that NA14 may act as an adaptor protein regulating spastin localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of spastin that is particularly critical during the cell cycle and neuronal development. PMID:25390646

  4. Hydronephrosis and renal failure following inadequate management of neuropathic bladder in a patient with spinal cord injury: Case report of a preventable complication

    PubMed Central

    2012-01-01

    Background Condom catheters are indicated in spinal cord injury patients in whom intravesical pressures during storage and voiding are safe. Unmonitored use of penile sheath drainage can lead to serious complications. Case report A 32-year old, male person, sustained complete paraplegia at T-11 level in 1985. He had been using condom catheter. Eleven years after sustaining spinal injury, intravenous urography showed no radio-opaque calculus, normal appearances of kidneys, ureters and bladder. Blood urea and Creatinine were within reference range. A year later, urodynamics revealed detrusor pressure of 100?cm water when detrusor contraction was initiated by suprapubic tapping. This patient was advised intermittent catheterisation and take anti-cholinergic drug orally; but, he wished to continue penile sheath drainage. Nine years later, this patient developed bilateral hydronephrosis and renal failure. Indwelling urethral catheter drainage was established. Five months later, ultrasound examination of urinary tract revealed normal kidneys with no evidence of hydronephrosis. Conclusion Spinal cord injury patients with high intravesical pressure should not have penile sheath drainage as these patients are at risk for developing hydronephrosis and renal failure. Intermittent catheterisation along with antimuscarinic drug should be the preferred option for managing neuropathic bladder. PMID:23014062

  5. Effects of repetitive transcranial magnetic stimulation on recovery of function after spinal cord injury.

    PubMed

    Tazoe, Toshiki; Perez, Monica A

    2015-04-01

    A major goal of rehabilitation strategies after spinal cord injury (SCI) is to enhance the recovery of function. One possible avenue to achieve this goal is to strengthen the efficacy of the residual neuronal pathways. Noninvasive repetitive transcranial magnetic stimulation (rTMS) has been used in patients with motor disorders as a tool to modulate activity of corticospinal, cortical, and subcortical pathways to promote functional recovery. This article reviews a series of studies published during the last decade that used rTMS in the acute and chronic stages of paraplegia and tetraplegia in humans with complete and incomplete SCI. In the studies, rTMS has been applied over the arm and leg representations of the primary motor cortex to target 3 main consequences of SCI: sensory and motor function impairments, spasticity, and neuropathic pain. Although some studies demonstrated that consecutive sessions of rTMS improve aspects of particular functions, other studies did not show similar effects. We discuss how rTMS parameters and postinjury reorganization in the corticospinal tract, motor cortical, and spinal cord circuits might be critical factors in understanding the advantages and disadvantages of using rTMS in patients with SCI. The available data highlight the limited information on the use of rTMS after SCI and the need to further understand the pathophysiology of neuronal structures affected by rTMS to maximize the potential beneficial effects of this technique in humans with SCI. PMID:25175159

  6. Shoulder joint kinetics during the push phase of wheelchair propulsion.

    PubMed

    Kulig, K; Rao, S S; Mulroy, S J; Newsam, C J; Gronley, J K; Bontrager, E L; Perry, J

    1998-09-01

    The purpose of this investigation was to quantify the forces and moments at the shoulder joint during free, level wheelchair propulsion and to document changes imposed by increased speed, inclined terrain, and 15 minutes of continuous propulsion. Data were collected using a six-camera VICON motion analysis system, a strain gauge instrumented wheel, and a wheelchair ergometer. Seventeen men with low level paraplegia participated in this study. Shoulder joint forces and moments were calculated using a three-dimensional model applying the inverse dynamics approach. During free propulsion, peak shoulder joint forces were in the posterior (46 N) and superior directions (14 N), producing a peak resultant force of 51 N at an angle of 185 degrees (180 degrees = posterior). Peak shoulder joint moments were greatest in extension (14 Newton-meters [Nm]), followed by abduction (10 Nm), and internal rotation (6 Nm). With fast and inclined propulsion, peak vertical force increased by greater than 360%, and the increase in posterior force and shoulder moments ranged from 107% to 167%. At the end of 15 minutes of continuous free propulsion, there were no significant changes compared with short duration free propulsion. The increased joint loads documented during fast and inclined propulsion could lead to compression of subacromial structures against the overlying acromion. PMID:9755772

  7. Temporal and tissue specific gene expression patterns of the zebrafish kinesin-1 heavy chain family, kif5s, during development.

    PubMed

    Campbell, Philip D; Marlow, Florence L

    2013-10-01

    Homo- and heterodimers of Kif5 proteins form the motor domain of Kinesin-1, a major plus-end directed microtubule motor. Kif5s have been implicated in the intracellular transport of organelles, vesicles, proteins, and RNAs in many cell types. There are three mammalian KIF5s. KIF5A and KIF5C proteins are strictly neural in mouse whereas, KIF5B is ubiquitously expressed. Mouse knockouts indicate crucial roles for KIF5 in development and human mutations in KIF5A lead to the neurodegenerative disease Hereditary Spastic Paraplegia. However, the developmental functions and the extent to which individual kif5 functions overlap have not been elucidated. Zebrafish possess five kif5 genes: kif5Aa, kif5Ab, kif5Ba, kif5Bb, and kif5C. Here we report their tissue specific expression patterns in embryonic and larval stages. Specifically, we find that kif5As are strictly zygotic and exhibit neural-specific expression. In contrast, kif5Bs exhibit strong maternal contribution and are ubiquitously expressed. Lastly, kif5C exhibits weak maternal expression followed by enrichment in neural populations. In addition, kif5s show distinct expression domains in the larval retina. PMID:23684767

  8. The articles of Babinski on his sign and the paper of 1898.

    PubMed

    Bruno, Estañol; Horacio, Sentíes-Madrid; Yolanda, Elías; Guillermo, García Ramos

    2007-01-01

    In 1896 Joseph François Felix Babinski described for the first time the phenomenon of the toes; nevertheless in this first paper he simply described extension of all toes with pricking of the sole of the foot. It was not until the second paper of 1898 that he specifically described the extension of the hallux with strong tactile stimulation (stroking) of the lateral border of the sole. Babinski probably discovered his sign by a combination of chance observation and careful re-observation and replication. He also had in mind practical applications of the sign, particularly in the differential diagnosis with hysteria and in medico-legal areas. Several of the observations and physiopathological mechanisms proposed by Babinski are still valid today, e.g, he realized since 1896 that the reflex was part of the flexor reflex synergy and observed that several patients during the first hours of an acute cerebral or spinal insult had absent extensor responses. He also found that most patients with the abnormal reflex had weakness of dorsiflexion of the toes and ankles and observed a lack of correlation between hyperactive myotatic reflexes and the presence of an upgoing hallux. He discovered that not all patients with hemiplegia or paraplegia had the sign but thought erroneously that some normal subjects could have an upgoing toe. Between 1896 and 1903 Babinski continued to think on the sign that bears his name and enrich its semiological and physiopathological value. PMID:18040103

  9. Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders

    PubMed Central

    2010-01-01

    A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders. PMID:21637472

  10. Evolving experience with thoracoabdominal aortic aneurysm repair at a single institution.

    PubMed

    Golden, M A; Donaldson, M C; Whittemore, A D; Mannick, J A

    1991-06-01

    Fifty-seven patients underwent repair of atherosclerotic thoracoabdominal aortic aneurysms between 1978 and 1990. Five patients had urgent surgery for rupture. The 30-day operative mortality rate for the entire group was 18% (10 patients). Before July 1987, 19 patients (group 1) were operated on by use of a technique previously described. In these earlier patients the peritoneum was routinely entered, the diaphragm was divided radially, and no heparin was given. Among patients in group 1 there was a 30-day operative mortality rate of 42% (8 patients), and morbidity included myocardial infarction 4 (21%), respiratory failure 9 (47%), renal failure 12 (63%), bleeding requiring reoperation 4 (21%), and intestinal ischemia 3 (16%). Since July 1987 a standardized approach to all elective thoracoabdominal aortic aneurysms has been used in 38 patients (group 2). This method uses a left thoracoabdominal incision, circumferential division of the hemidiaphragm, retronephric totally extraperitoneal aortic exposure, single lung anesthesia, full heparinization, the graft inclusion technique, and liberal use of visceral endarterectomy. Patients in group 2 sustained a 30-day operative mortality rate of 5% (2 patients) and morbidity included myocardial infarction 2 (5%), respiratory failure 10 (26%), renal failure 11 (29%), bleeding requiring reoperation 1 (3%), paraplegia 6 (16%), and paraparesis 4 (11%). Modern surgery for repair of thoracoabdominal aortic aneurysm results in acceptably low operative mortality rates. Spinal cord ischemia remains an unresolved source of morbidity. PMID:2038102

  11. Alleviation of seipinopathy-related ER stress by triglyceride storage.

    PubMed

    Hölttä-Vuori, Maarit; Salo, Veijo T; Ohsaki, Yuki; Suster, Maximiliano L; Ikonen, Elina

    2013-03-15

    Mutations affecting the N-glycosylation site in Berardinelli-Seip lipodystrophy (BSCL)-associated gene BSCL2/seipin lead to a dominantly inherited spastic paraplegia termed seipinopathy. While the loss of function of seipin leads to severe congenital lipodystrophy, the effects of seipin N-glycosylation mutations on lipid balance in the nervous system are unknown. In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased triglyceride (TG) content in astrocytoma and motor neuron cell lines. This was corrected by supplementation with exogenous oleic acid. Upon oleic acid loading, seipin N88S protein was relocated from the endoplasmic reticulum (ER) to the surface of lipid droplets and this was paralleled by alleviation of ER stress induced by the mutant protein. This effect was not limited to seipin N88S, as oleic acid loading also reduced tunicamycin-induced ER stress in motor neuron cells. Furthermore, both seipin N88S and tunicamycin-induced ER stress were decreased by inhibiting lipolysis, suggesting that lipid droplets protected neuronal cells from ER stress. In developing zebrafish larvae, seipin N88S expression led to TG imbalance and reduced spontaneous free swimming. Importantly, supplementation with exogenous oleic acid reduced ER stress in the zebrafish head and increased fish motility. We propose that the decreased TG content contributes to the pathology induced by seipin N88S, and that rescuing TG levels may provide a novel therapeutic strategy in seipinopathy. PMID:23250914

  12. A semi-active hybrid neuroprosthesis for restoring lower limb function in paraplegics.

    PubMed

    Kirsch, Nicholas; Alibeji, Naji; Fisher, Lee; Gregory, Chris; Sharma, Nitin

    2014-01-01

    Through the application of functional electrical stimulation (FES) individuals with paraplegia can regain lost walking function. However, due to the rapid onset of muscle fatigue, the walking duration obtained with an FES-based neuroprosthesis is often relatively short. The rapid muscle fatigue can be compensated for by using a hybrid system that uses both FES and an active orthosis. In this paper, we demonstrate the initial testing of a semi-active hybrid walking neuroprosthesis. The semi-active hybrid orthosis (SEAHO) supports a user during the stance phase and standing while the electric motors attached to the hip section of the orthosis are used to generate hip flexion/extension. FES in SEAHO is mainly used to actuate knee flexion/extension and plantar flexion of the foot. SEAHO is controlled by a finite state machine that uses a recently developed nonlinear controller for position tracking control of the hip motors and cues from the hip angle to actuate FES and other components. PMID:25570512

  13. Total vertebrectomy for stabilisation of chronic spinal lumbar luxation in a paraplegic dog without nociception.

    PubMed

    Tertuliano Marinho, P V; Zani, C C; De Biasi, F; Bahr Arias, M V

    2014-10-01

    An adult male crossbred dog was referred with a history of a road traffic accident that took place 1 month earlier. Neurological examination revealed paraplegia with absent nociception in the pelvic limbs. On epaxial palpation, significant curvature of the anatomical axis of the spine between the third and fourth lumbar vertebrae was observed, with the presence of a bone end almost piercing the dog's skin. Survey radiographs of the lumbar spine revealed severe dislocation between L3 and L4 vertebrae. During surgery, the spinal cord was not visible between the dislocated segments. Because of difficulties in reducing the lumbar luxation during surgery, vertebrectomy and vertebral shortening were performed. After alignment between vertebrae L3 and L5, eight cortical orthopaedic screws and bone cement were used for fixation. After 30 days, the dog started to use a wheelchair and was considered by its owner to have a good quality of life with no evidence of pain. To the authors' knowledge, this is the first case of severe luxation treated by total vertebrectomy and spine shortening in a dog. This surgery can be considered as an option in the management of severe spine luxation when the spinal cord is physically transected. PMID:24962201

  14. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

    PubMed

    Wortmann, Saskia B; Espeel, Marc; Almeida, Ligia; Reimer, Annette; Bosboom, Dennis; Roels, Frank; de Brouwer, Arjan P M; Wevers, Ron A

    2015-01-01

    Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes, by taking part in vesicle and mitochondrial fusion and fission or signal transduction. Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE). PMID:25178427

  15. The Fifth Adaptor Protein Complex

    PubMed Central

    Hirst, Jennifer; D. Barlow, Lael; Francisco, Gabriel Casey; Sahlender, Daniela A.; Seaman, Matthew N. J.; Dacks, Joel B.; Robinson, Margaret S.

    2011-01-01

    Adaptor protein (AP) complexes sort cargo into vesicles for transport from one membrane compartment of the cell to another. Four distinct AP complexes have been identified, which are present in most eukaryotes. We report the existence of a fifth AP complex, AP-5. Tagged AP-5 localises to a late endosomal compartment in HeLa cells. AP-5 does not associate with clathrin and is insensitive to brefeldin A. Knocking down AP-5 subunits interferes with the trafficking of the cation-independent mannose 6-phosphate receptor and causes the cell to form swollen endosomal structures with emanating tubules. AP-5 subunits can be found in all five eukaryotic supergroups, but they have been co-ordinately lost in many organisms. Concatenated phylogenetic analysis provides robust resolution, for the first time, into the evolutionary order of emergence of the adaptor subunit families, showing AP-3 as the basal complex, followed by AP-5, AP-4, and AP-1 and AP-2. Thus, AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia. PMID:22022230

  16. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.

    PubMed

    Edwards, Thomas L; Clowes, Virginia E; Tsang, Hilda T H; Connell, James W; Sanderson, Christopher M; Luzio, J Paul; Reid, Evan

    2009-10-01

    The HSPs (hereditary spastic paraplegias) are genetic conditions in which there is distal degeneration of the longest axons of the corticospinal tract, resulting in spastic paralysis of the legs. The gene encoding spartin is mutated in Troyer syndrome, an HSP in which paralysis is accompanied by additional clinical features. There has been controversy over the subcellular distribution of spartin. We show here that, at steady state, endogenous spartin exists in a cytosolic pool that can be recruited to endosomes and to lipid droplets. Cytosolic endogenous spartin is mono-ubiquitinated and we demonstrate that it interacts via a PPXY motif with the ubiquitin E3 ligases AIP4 [atrophin-interacting protein 4; ITCH (itchy E3 ubiquitin protein ligase homologue] [corrected] and AIP5 (WWP1). Surprisingly, the PPXY motif, AIP4 and AIP5 are not required for spartin's ubiquitination, and so we propose that spartin acts as an adaptor for these proteins. Our results suggest that spartin is involved in diverse cellular functions, which may be of relevance to the complex phenotype seen in Troyer syndrome. PMID:19580544

  17. Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases.

    PubMed

    Koppen, Mirko; Langer, Thomas

    2007-01-01

    Cell survival depends on essential processes in mitochondria. Various proteases within these organelles regulate mitochondrial biogenesis and ensure the complete degradation of excess or damaged proteins. Many of these proteases are highly conserved and ubiquitous in eukaryotic cells. They can be assigned to three functional classes: processing peptidases, which cleave off mitochondrial targeting sequences of nuclearly encoded proteins and process mitochondrial proteins with regulatory functions; ATP-dependent proteases, which either act as processing peptidases with regulatory functions or as quality-control enzymes degrading non-native polypeptides to peptides; and oligopeptidases, which degrade these peptides and mitochondrial targeting sequences to amino acids. Disturbances of protein degradation within mitochondria cause severe phenotypes in various organisms and can lead to the induction of apoptotic programmes and cell-specific neurodegeneration in mammals. After an overview of the proteolytic system of mitochondria, we will focus on versatile functions of ATP-dependent AAA proteases in the inner membrane. These conserved proteolytic machines conduct protein quality surveillance of mitochondrial inner membrane proteins, mediate vectorial protein dislocation from membranes, and, acting as processing enzymes, control ribosome assembly, mitochondrial protein synthesis, and mitochondrial fusion. Implications of these functions for cell-specific axonal degeneration in hereditary spastic paraplegia will be discussed. PMID:17562452

  18. Real-time strap pressure sensor system for powered exoskeletons.

    PubMed

    Tamez-Duque, Jesús; Cobian-Ugalde, Rebeca; Kilicarslan, Atilla; Venkatakrishnan, Anusha; Soto, Rogelio; Contreras-Vidal, Jose Luis

    2015-01-01

    Assistive and rehabilitative powered exoskeletons for spinal cord injury (SCI) and stroke subjects have recently reached the clinic. Proper tension and joint alignment are critical to ensuring safety. Challenges still exist in adjustment and fitting, with most current systems depending on personnel experience for appropriate individual fastening. Paraplegia and tetraplegia patients using these devices have impaired sensation and cannot signal if straps are uncomfortable or painful. Excessive pressure and blood-flow restriction can lead to skin ulcers, necrotic tissue and infections. Tension must be just enough to prevent slipping and maintain posture. Research in pressure dynamics is extensive for wheelchairs and mattresses, but little research has been done on exoskeleton straps. We present a system to monitor pressure exerted by physical human-machine interfaces and provide data about levels of skin/body pressure in fastening straps. The system consists of sensing arrays, signal processing hardware with wireless transmission, and an interactive GUI. For validation, a lower-body powered exoskeleton carrying the full weight of users was used. Experimental trials were conducted with one SCI and one able-bodied subject. The system can help prevent skin injuries related to excessive pressure in mobility-impaired patients using powered exoskeletons, supporting functionality, independence and better overall quality of life. PMID:25690551

  19. Hippocrates: the forefather of neurology.

    PubMed

    Breitenfeld, T; Jurasic, M J; Breitenfeld, D

    2014-09-01

    Hippocrates is one of the most influential medical doctors of all times. He started observing and experimenting in times of mysticism and magic. He carried a holistic and humanitarian approach to the patient with examination as the principal approach-inspection, palpation and auscultation are still the most important tools in diagnosing algorithms of today. He had immense experience with the human body most likely due to numerous wound treatments he had performed; some even believe he performed autopsies despite the negative trend at the time. Hippocrates identified the brain as the analyst of the outside world, the interpreter of consciousness and the center of intelligence and willpower. Interestingly, Hippocrates was aware of many valid concepts in neurology; his treatise On the Sacred Disease was the most important for understanding neurology and epilepsy. His other ideas pioneered modern day neurology mentioning neurological diseases like apoplexy, spondylitis, hemiplegia, and paraplegia. Today, 10 % of neurological Pubmed and 7 % of neuroscience Scopus reviews mention Corpus Hippocraticum as one of the sources. Therefore, Hippocrates may be considered as the forefather of neurology. PMID:25027011

  20. Detailed Shoulder MRI Findings in Manual Wheelchair Users with Shoulder Pain

    PubMed Central

    Morrow, Melissa M. B.; Van Straaten, Meegan G.; Murthy, Naveen S.; Braman, Jonathan P.; Zanella, Elia; Zhao, Kristin D.

    2014-01-01

    Shoulder pain and pathology are common in manual wheelchair (MWC) users with paraplegia, and the biomechanical mechanism of injury is largely unknown. Establishing patterns of MRI characteristics in MWC users would help advance understanding of the mechanical etiology of rotator cuff disease, thus improving the logic for prescribed interventions. The purpose of this study was to report detailed shoulder MRI findings in a sample of 10?MWC users with anterolateral shoulder pain. The imaging assessments were performed using our standardized MRI Assessment of the Shoulder (MAS) guide. The tendon most commonly torn was the supraspinatus at the insertion site in the anterior portion in either the intrasubstance or articular region. Additionally, widespread tendinopathy, CA ligament thickening, subacromial bursitis, labral tears, and AC joint degenerative arthrosis and edema were common. Further reporting of detailed shoulder imaging findings is needed to confirm patterns of tears in MWC users regarding probable tendon tear zone, region, and portion. This investigation was a small sample observational study and did not yield data that can define patterns of pathology. However, synthesis of detailed findings from multiple studies could define patterns of pathological MRI findings allowing for associations of imaging findings to risk factors including specific activities. PMID:25180192

  1. Anxiolytics may promote locomotor function recovery in spinal cord injury patients

    PubMed Central

    Guertin, Pierre A

    2008-01-01

    Recent findings in animal models of paraplegia suggest that specific nonbenzodiazepine anxiolytics may temporarily restore locomotor functions after spinal cord injury (SCI). Experiments using in vitro models have revealed, indeed, that selective serotonin receptor (5-HTR) ligands such as 5-HTR1A agonists, known as relatively safe anxiolytics, can acutely elicit episodes of rhythmic neuronal activity refered to as fictive locomotion in isolated spinal cord preparations. Along the same line, in vivo studies have recently shown that this subclass of anxiolytics can induce, shortly after systemic administration (eg, orally or subcutaneously), some locomotor-like hindlimb movements during 45–60 minutes in completely spinal cord-transected (Tx) rodents. Using ‘knock-out’ mice (eg, 5-HTR7-/-) and selective antagonists, it has been clearly established that both 5-HTR1A and 5-HTR7 were critically involved in mediating the pro-locomotor effects induced by 8-OH-DPAT (typically referred to as a 5-HTR1A agonist) in Tx animals. Taken together, these in vitro and in vivo data strongly support the idea that 5-HTR1A agonists may eventually become constitutive elements of a novel first-in-class combinatorial treatment aimed at periodically inducing short episodes of treadmill stepping in SCI patients. PMID:19043520

  2. A valuable animal model of spinal cord injury to study motor dysfunctions, comorbid conditions, and aging associated diseases.

    PubMed

    Rouleau, Pascal; Guertin, Pierre A

    2013-01-01

    Most animal models of contused, compressed or transected spinal cord injury (SCI) require a laminectomy to be performed. However, despite advantages and disadvantages associated with each of these models, the laminectomy itself is generally associated with significant problems including longer surgery and anaesthesia (related post-operative complications), neuropathic pain, spinal instabilities, deformities, lordosis, and biomechanical problems, etc. This review provides an overview of findings obtained mainly from our laboratory that are associated with the development and characterization of a novel murine model of spinal cord transection that does not require a laminectomy. A number of studies successfully conducted with this model provided strong evidence that it constitutes a simple, reliable and reproducible transection model of complete paraplegia which is particularly useful for studies on large cohorts of wild-type or mutant animals - e.g., drug screening studies in vivo or studies aimed at characterizing neuronal and non-neuronal adaptive changes post-trauma. It is highly suitable also for studies aimed at identifying and developing new pharmacological treatments against aging associated comorbid problems and specific SCI-related dysfunctions (e.g., stereotyped motor behaviours such as locomotion, sexual response, defecation and micturition) largely related with 'command centers' located in lumbosacral areas of the spinal cord. PMID:23360275

  3. The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

    PubMed

    Karlsson, Amelia B; Washington, Jacqueline; Dimitrova, Valentina; Hooper, Christopher; Shekhtman, Alexander; Bakowska, Joanna C

    2014-04-01

    Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a lack of expression of the truncated protein. Spartin is a multifunctional protein, yet only two conserved domains--a microtubule-interacting and trafficking domain and a plant-related senescence domain involved in cytokinesis and mitochondrial physiology, respectively--have been defined. We have shown that overexpressed spartin binds to the Ile44 hydrophobic pocket of ubiquitin, suggesting spartin might contain a ubiquitin-binding domain. In the present study, we demonstrate that spartin contributes to the formation of dendritic aggresome-like induced structures (DALIS) through a unique ubiquitin-binding region (UBR). Using short hairpin RNA, we knocked down spartin in RAW264.7 cells and found that DALIS frequency decreased; conversely, overexpression of spartin increased the percentage of cells containing DALIS. Using nuclear magnetic resonance spectroscopy, we characterized spartin's UBR and defined the UBR's amino acids that are key for ubiquitin binding. We also found that spartin, via the UBR, binds Lys-63-linked ubiquitin chains but does not bind Lys-48-linked ubiquitin chains. Finally, we demonstrate that spartin's role in DALIS formation depends on key residues within its UBR. PMID:24523286

  4. Extended phenotypic spectrum of KIF5A mutations

    PubMed Central

    Liu, Yo-Tsen; Laurá, Matilde; Hersheson, Joshua; Horga, Alejandro; Jaunmuktane, Zane; Brandner, Sebastian; Pittman, Alan; Hughes, Deborah; Polke, James M.; Sweeney, Mary G.; Proukakis, Christos; Janssen, John C.; Auer-Grumbach, Michaela; Zuchner, Stephan; Shields, Kevin G.; Reilly, Mary M.

    2014-01-01

    Objective: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2). Methods: KIF5A sequencing of the motor-domain coding exons was performed in 186 patients with the clinical diagnosis of HSP and in 215 patients with typical CMT2. Another 66 patients with HSP or CMT2 with pyramidal signs were sequenced for all exons of KIF5A by targeted resequencing. One additional patient was genetically diagnosed by whole-exome sequencing. Results: Five KIF5A mutations were identified in 6 unrelated patients: R204W and D232N were novel mutations; R204Q, R280C, and R280H have been previously reported. Three patients had CMT2 as the predominant and presenting phenotype; 2 of them also had pyramidal signs. The other 3 patients presented with HSP but also had significant axonal neuropathy or other additional features. Conclusion: This is currently the largest study investigating KIF5A mutations. By combining next-generation sequencing and conventional sequencing, we confirm that KIF5A mutations can cause variable phenotypes ranging from HSP to CMT2. The identification of mutations in CMT2 broadens the phenotypic spectrum and underlines the importance of KIF5A mutations, which involve degeneration of both the central and peripheral nervous systems and should be tested in HSP and CMT2. PMID:25008398

  5. KIF1A mutation in a patient with progressive neurodegeneration.

    PubMed

    Okamoto, Nobuhiko; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yanagihara, Keiko; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro

    2014-11-01

    Kinesins are a large superfamily of molecular motors. They move along microtubule filaments and are powered by the hydrolysis of ATP. This transport system is essential for neuronal function and survival. KIF1A belongs to the kinesin 3 family and involves in the anterograde transport of synaptic vesicle precursors along axons. Several studies confirmed that KIF1A mutations cause spastic paraplegia and sensory neuropathy in an autosomal-recessive fashion. A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity. Mild atrophy of the cerebellar vermis was found on magnetic resonance imaging. The mutation was heterozygous and de novo. We identified the second patient with the p.T99M mutation in the KIF1A gene by whole-exome sequencing. He showed severe ID, spasticity, optic atrophy, neurogenic bladder, growth failure and progressive cerebellar atrophy. The p.T99M mutation may be a common recurrent mutation. We suppose that this specific mutation of KIF1A shows a novel neurodegenerative syndrome. PMID:25253658

  6. Assessment of passive knee stiffness and viscosity in individuals with spinal cord injury using pendulum test.

    PubMed

    Joghtaei, Mahmoud; Arab, Amir Massoud; Hashemi-Nasl, Hamed; Joghataei, Mohammad Taghi; Tokhi, Mohammad Osman

    2015-03-01

    Objective Stiffness and viscosity represent passive resistances to joint motion related with the structural properties of the joint tissue and of the musculotendinous complex. Both parameters can be affected in patients with spinal cord injury (SCI). The purpose of this study was to measure passive knee stiffness and viscosity in patients with SCI with paraplegia and healthy subjects using Wartenberg pendulum test. Design Non-experimental, cross-sectional, case-control design. Setting An outpatient physical therapy clinic, University of social welfare and Rehabilitation Science, Iran. Patients A sample of convenience sample of 30 subjects participated in the study. Subjects were categorized into two groups: individuals with paraplegic SCI (n = 15, age: 34.60 ± 9.18 years) and 15 able-bodied individuals as control group (n = 15, age: 30.66 ± 11.13 years). Interventions Not applicable. Main measures Passive pendulum test of Wartenberg was used to measure passive viscous-elastic parameters of the knee (stiffness, viscosity) in all subjects. Results Statistical analysis (independent t-test) revealed significant difference in the joint stiffness between healthy subjects and those with paraplegic SCI (P = 0.01). However, no significant difference was found in the viscosity between two groups (P = 0.17). Except for first peak flexion angle, all other displacement kinematic parameters exhibited no statistically significant difference between normal subjects and subjects with SCI. Conclusions Patients with SCI have significantly greater joint stiffness compared to able-bodied subjects. PMID:25437824

  7. Fractured neck of femur below long spinopelvic fixation for Charcot spine: a case report

    PubMed Central

    2013-01-01

    Introduction We present a case of a patient with a previously undescribed complication: intertrochanteric femoral neck insufficiency fracture after long-segment instrumented spinopelvic fusion to the ilium for Charcot spine. Case presentation A 42-year-old Caucasian man with post-traumatic complete T6 paraplegia presented to our institution after developing Charcot spinal arthropathy at L3 and L4 and symptoms of autonomic dysreflexia 21 years after his original spinal cord injury. Multiple anterior and posterior surgeries were required to eventually achieve stabilization of his thoracolumbar spine to his pelvis and resolution of symptoms. The most distal fixation point was two iliac wing screws bilaterally. At 10 weeks after the final spinal surgery and after posterior spinal bony consolidation had occurred, he sustained an intertrochanteric femoral neck fracture, distal to the iliac fixation, whilst bending forward in his wheelchair. His proximal femoral fracture was internally fixed with an intramedullary device. Conclusions Spinal Charcot’s arthropathy is a rare condition that may occur in patients with post-traumatic spinal cord injury. Although associated with high risk of complications, circumferential instrumented fusion in Charcot spine can restore spinal stability. Insufficiency fractures of the proximal femur are possible complications of long spinopelvic fusions. PMID:24378187

  8. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

    PubMed Central

    Schneider, Susanne A; Dusek, Petr; Hardy, John; Westenberger, Ana; Jankovic, Joseph; Bhatia, Kailash P

    2013-01-01

    Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson’s disease (PD) and Alzheimer’s disease. Until we disentangle the various NBIA genes and their related pathways and move towards pathogenesis-targeted therapies, the treatment remains symptomatic. Our aim here is to provide an overview of historical developments of research into iron metabolism and its relevance in neurodegenerative disorders. We then focus on clinical features and investigational findings in NBIA and summarize therapeutic results reviewing reports of iron chelation therapy and deep brain stimulation. We also discuss genetic and molecular underpinnings of the NBIA syndromes. PMID:23814539

  9. Neurological complications of Schistosoma infection.

    PubMed

    Carod-Artal, Francisco Javier

    2008-02-01

    Schistosomiasis is a parasitic disease caused by blood flukes of the genus Schistosoma. Currently more than 200 million people worldwide are affected. Neuroschistosomiasis constitutes a severe presentation of the disease. Neurological symptoms result from the inflammatory response of the host to egg deposition in the brain and spinal cord. Neurological complications of cerebral schistosomiasis include delirium, loss of consciousness, seizures, dysphasia, visual field impairment, focal motor deficits and ataxia. Cerebral and cerebellar tumour-like neuroschistosomiasis can present with increased intracranial pressure, headache, nausea and vomiting, and seizures. Myelopathy (acute transverse myelitis and subacute myeloradiculopathy) is the most common neurological complication of Schistosoma mansoni infection. Schistosomal myelopathy tends to occur early after infection and is more likely to be symptomatic than cerebral schistosomiasis. The conus medullaris and cauda equina are the most common sites of involvement. Severe schistosomal myelopathy can provoke a complete flaccid paraplegia with areflexia, sphincter dysfunction and sensory disturbances. Schistosomicidal drugs, steroids and surgery are the currently available treatments for neuroschistosomiasis. Rehabilitation and multidisciplinary team care are needed in severely disabled patients. PMID:17905371

  10. Contemporary spinal cord protection during thoracic and thoracoabdominal aortic surgery and endovascular aortic repair: a position paper of the vascular domain of the European Association for Cardio-Thoracic Surgery†.

    PubMed

    Etz, Christian D; Weigang, Ernst; Hartert, Marc; Lonn, Lars; Mestres, Carlos A; Di Bartolomeo, Roberto; Bachet, Jean E; Carrel, Thierry P; Grabenwöger, Martin; Schepens, Marc A A M; Czerny, Martin

    2015-06-01

    Ischaemic spinal cord injury (SCI) remains the Achilles heel of open and endovascular descending thoracic and thoracoabdominal repair. Neurological outcomes have improved coincidentially with the introduction of neuroprotective measures. However, SCI (paraplegia and paraparesis) remains the most devastating complication. The aim of this position paper is to provide physicians with broad information regarding spinal cord blood supply, to share strategies for shortening intraprocedural spinal cord ischaemia and to increase spinal cord tolerance to transitory ischaemia through detection of ischaemia and augmentation of spinal cord blood perfusion. This study is meant to support physicians caring for patients in need of any kind of thoracic or thoracoabdominal aortic repair in decision-making algorithms in order to understand, prevent or reverse ischaemic SCI. Information has been extracted from focused publications available in the PubMed database, which are cohort studies, experimental research reports, case reports, reviews, short series and meta-analyses. Individual chapters of this position paper were assigned and after delivery harmonized by Christian D. Etz, Ernst Weigang and Martin Czerny. Consequently, further writing assignments were distributed within the group and delivered in August 2014. The final version was submitted to the EJCTS for review in September 2014. PMID:25991554

  11. Reliability of peak physiological responses during wheelchair ergometry in persons with spinal cord injury.

    PubMed

    Bhambhani, Y N; Eriksson, P; Steadward, R D

    1991-07-01

    This study examined the test-retest reliability of peak physiological responses during wheelchair ergometry (WE) in individuals with spinal cord injury (SCI). Seven wheelchair dependent subjects, two with paraplegia (T10-11 and T11-12 lesions) and five with quadriplegia (all with C6-7 lesions), were given two incremental exercise tests to volitional fatigue on separate occasions within a one-week period. Each subject wheeled his or her personal wheelchair, which was mounted on a set of frictionless rollers with side-mounted flywheels. Metabolic and cardiorespiratory responses were continuously monitored by means of an automated metabolic measurement cart interfaced with an electrocardiograph. Statistical analysis revealed no significant differences (p greater than .05) between the mean values of the two test trials for six peak values. Reliability coefficients (p less than .01) were: oxygen uptake (0.98), heart rate (0.97), ventilation volume (0.96), respiratory exchange ratio (0.91), oxygen pulse (0.96), and ventilatory equivalent for oxygen (0.88). The investigators concluded that these six physiological responses in subjects with SCI undergoing WE are highly reliable, and that these variables can be used in the objective prescription, monitoring, and evaluation of exercise rehabilitation programs for individuals with SCI. PMID:2059132

  12. Adolf von Strümpell: a key yet neglected protagonist of neurology.

    PubMed

    Engmann, Birk; Wagner, Armin; Steinberg, Holger

    2012-10-01

    German internist and neurologist Adolf von Strümpell (1853-1925) was a leading figure in German neurosciences around 1900 and helped to establish neurology as a discipline in its own right. He made contributions that were crucial to the development of the subject and in many cases his were the first descriptions of complex diseases such as Bechterew disease (ankylosing spondylitis), primary lateral sclerosis, hereditary spastic paraplegia, and syphilis. His Textbook of Special Pathology and Therapy of Internal Diseases, published in English as Text-book of Medicine for Students and Practitioners, and in particular the subvolume on neurological diseases, were the guiding manuals for the training in neurology for decades. However, despite his pioneering achievements, his name has almost become unknown within medical terminology. This article, therefore, wishes to revive an awareness not only of the most important stages in Strümpell's life in Erlangen, Leipzig, Breslau (Wroc?aw), and Vienna, but also of his scientific achievements, focusing primarily on his neurological studies. To this end, the article reviews his most important publications on the subject and seeks to evaluate their and hence Strümpell's impact on the understanding of certain illnesses. PMID:22527226

  13. Pseudoclavibacter otitis media in a 3-year-old boy with pulmonary and spinal tuberculosis.

    PubMed

    Ayuthaya, Satja Issaranggoon Na; Leelaporn, Amornrut; Kiratisin, Pattarachai; Oberdorfer, Peninnah

    2015-05-01

    Pseudoclavibacter has rarely been documented as an etiologic agent of infection in humans. We presented the first case report of Pseudoclavibacter otitis media in a boy with pulmonary and spinal tuberculosis.A 3-year-old boy was referred to our hospital due to prolonged fever and progressive paraplegia for 3 months. He had yellowish discharge from both ear canals. The pleural fluid culture was positive for Mycobacterium tuberculosis. The discharge from both ears culture yielded yellow colonies of gram-positive bacilli with branching. This organism was positive for modified acid-fast bacilli stain but negative for acid-fast bacilli stain. Biochemical characteristics of this isolate were positive for catalase test but negative for oxidase, nitrate, esculin, and sugar utilization tests. The organism was further subjected to be identified by 16S ribosomal deoxyribonucleic acid gene sequencing. The result yielded Pseudoclavibacter species (99.4% identical), which could be most likely a potential pathogen in immunocompromised host like this patient. He responded well with intravenous trimetroprim-sulfamethoxazole for 6 weeks.This is the first case report of Pseudoclavibacter otitis media in children, and this case could emphasize Pseudoclavibacter species as a potential pathogen in immunocompromised host. PMID:25929901

  14. Selective dorsal rhizotomy for spastic diplegia secondary to stroke in an adult patient

    PubMed Central

    Eppinger, Melissa Ann; Berman, Casey Melissa; Mazzola, Catherine Anne

    2015-01-01

    Background: Selective dorsal rhizotomy (SDR) is often recommended for children with spastic paraparesis and cerebral palsy. SDR reduces spasticity in the lower extremities for these children with spastic paraplegia. However, SDR is infrequently recommended for adults with spasticity. Spastic diplegia in adult patients can be due to stroke, brain or spinal cord injury from trauma, infection, toxic-metabolic disorders, and other causes. Although rarely considered, SDR is an option for adult patients with spastic diplegia as well. Case Description: The authors describe a patient who underwent a SDR with a successful postoperative outcome. This man suffered a hypertensive and hemorrhagic stroke secondary to intravenous drug abuse at age 46. A SDR was performed after two failed intrathecal baclofen pump placements due to recurrent infections, likely resulting from his immunocompromised status. The patient underwent lumbar laminectomies and dorsal rhizotomies at levels L1-S1 bilaterally. Postoperatively, the patient's spasticity was significantly reduced. His Ashworth spasticity score decreased from 4/5 to 1/5, and the reduction in tone has been durable over 3 years. Conclusion: SDR in older patients with spastic paraparesis may be considered as a treatment option. PMID:26167363

  15. Experimental Usutu virus infection of suckling mice causes neuronal and glial cell apoptosis and demyelination.

    PubMed

    Weissenböck, Herbert; Bakonyi, Tamás; Chvala, Sonja; Nowotny, Norbert

    2004-11-01

    Usutu virus (USUV), a mosquito-borne flavivirus of the Japanese encephalitis virus group has been responsible for avian mortality in Austria since 2001. In the present study, the neuropathogenicity and neuroinvasiveness of USUV for 1-week-old suckling mice was investigated. After intraperitoneal inoculation, clinical signs like depression, disorientation, paraplegia, paralysis and coma were observed between 6 and 11 days post infection. Histologically, there was widespread neuronal apoptosis especially in the brain stem. Inflammatory infiltrates were scarce. Apoptosis was also present in white matter of cerebellum, medulla and spinal cord, and was frequently accompanied by primary demyelination. While apoptosis of neurons was clearly associated with presence of viral signals, the cause of apoptosis of white matter cells was more ambiguous. However, focal immunostaining was found in the white matter, especially in the spinal cord. As with all flaviviruses, USUV proved to be neuropathogenic for mice. In contrast to other flaviviruses, neuroinvasion occurred only in animals that were not older than 1 week at the time of inoculation. While neuronal apoptosis is a general aspect of flavivirus pathogenicity, demyelination seems to be a unique feature of USUV infection. PMID:15372281

  16. Septic shock with tension fecothorax as a delayed presentation of a gunshot diaphragmatic rupture

    PubMed Central

    Papachristos, Ioannis C.; Daliakopoulos, Stavros I.; Chatzoulis, Kostas; Lampridis, Savvas; Svarnas, Grigorios; Katsiadramis, Ioannis

    2013-01-01

    Diaphragmatic rupture (DR) after thoracoabdominal trauma has a reported rate of 0.8% to 5% and up to 30% of diaphragmatic hernias are accompanied with delayed diagnosis. The DR occurs after high-energy blunt or penetrating (stab or gunshot wounds) trauma. The purpose of this article is to analyze the DR, its clinical presentation, complications and possible causes of the delay in diagnosis, whilst recording a rare interesting case. A 44-year old moribund male with a fifteen years history of paraplegia, came to the emergency department with a clinical presentation of extremely severe respiratory distress. Chest X-ray showed the colon present in the left hemithorax. The onset of symptoms was 48 hours before, resulting in hemodynamic instability and severe sepsis condition. Emergency left thoracotomy and laparotomy were carried out. A rupture of the left hemidiaphragm was found as well as intrathoracic presence of colon, incarcerated and perforated, feces and omentum, also incarcerated and necrotic. There were dense adhesions between the ectopic viscera and the thoracic structures. The necrotic parts of the colon and the omentum were mobilized, and then resected. The viable parts of the colon were laboriously reintroduced into the intraperitoneal cavity. We conclude that early diagnosis is crucial to the morbidity and mortality after DR. The course and the kinetic energy of bullets determine the extent of the wound and the size of the DR. The diagnosis of rupture of the diaphragm after penetrating trauma is sometimes difficult and delay can lead to life threatening complications. PMID:24255791

  17. Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.

    PubMed

    Vengoechea, Jaime; David, Marjorie P; Yaghi, Shadi R; Carpenter, Lori; Rudnicki, Stacy A

    2013-12-01

    Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease leading to progressive paralysis that is generally fatal. Only 10% of cases are familial, a subset of which overlaps with frontotemporal dementia (FTD). Up to half of ALS patients have cognitive impairment, with 15% meeting the criteria for FTD. Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete penetrance, manifesting in both genders, revealed a P506S mutation in. Affected individuals were diagnosed with various conditions including hereditary spastic paraplegia (HSP), bulbar palsy and multiple sclerosis. The mutation in UBQLN2 was first identified in a 35-year-old female who presented with one year of progressive dysarthria, dyspnea, dysphagia, and cognitive decline. EMG suggested early motor neuron disease with prominent bulbar involvement. Her cognition declined rapidly and she developed extremity weakness. Her brother, initially diagnosed with HSP, and her second cousin, with primary lateral sclerosis, also have a P506S mutation in UBQLN2. In conclusion, the P506S mutation in UBQLN2 can affect both males and females and displays great phenotypic variability within the same family. Females can potentially have a more severe and rapidly progressive presentation than their male relatives. Additionally, the P506S mutation can also cause an FTD phenotype. PMID:23944734

  18. [Surgical treatment for chronic dissecting aneurysm (DeBakey type I)--a case using "elephant trunk" and "aortic tailoring"].

    PubMed

    Yamamoto, T; Makuuchi, H; Naruse, Y; Kobayashi, T; Goto, M; Nonaka, K

    1998-09-01

    We present a surgical case of a 54-year-old man with chronic dissecting aortic aneurysm (Type I). At the first operation, ascending aorta and aortic arch were replaced with a tube graft under cardiopulmonary bypass and selective cerebral perfusion. Elephant trunk method was employed for the second operation. At the second operation, graft replacement of the proximal two-thirds of the descending aorta was performed, and the lower third of the descending aorta was tailored. Aortic tailoring consisted of the longitudinal aortomy and the removal of the initimal flap from the distal part of the descending aorta from the level of the 9th intercostal artery down to the diaphragm. The aorta was closed creating single channel 21 mm in diameter and containing the origins of the important intercostal arteries. He discharged the hospital without any complication including paraplegia or visceral ischemia, and his follow-up CT scan (1 year-later) did not show any dilatation of the tailored segment of the descending aorta and abdominal aorta. PMID:9796292

  19. An Unusually Long Survival of A Patient with Glioblastoma of Spinal Cord: A Case Report

    PubMed Central

    Varghese, Sunitha Susan; Joseph, Vivek; Chacko, Geeta; Backianathan, Selvamani

    2014-01-01

    Primary glioblastoma of spinal cord are rare and are associated with poor survival especially in adults. We report a case of glioblastoma of thoracic spinal cord (D3 to D6) in an adult treated with partial resection surgery and radiation therapy with a survival of six years with good quality of life. The patient had paraplegia at presentation but improved after surgery and radiation therapy to grade 4 in both lower limbs. After 5 years, he developed new lesion in a different location of the spine (L1, L2 & L5) along with multiple lesions over entire spine and was treated with radiation therapy and a year later developed a new lesion intracranially in the posterior fossa involving cerebellopontine angle region infiltrating brainstem. He was treated with palliative radiotherapy and is on chemotherapy with Temozolomide and is still alive with ability to do activities of daily living at the time of this report. Radiation therapy provided prolonged local control with effective palliation of symptoms and good quality of life in this patient enabling to do activities of daily living. PMID:24959488

  20. Spinal cord blood flow measured by /sup 14/C-iodoantipyrine autoradiography during and after graded spinal cord compression in rats

    SciTech Connect

    Holtz, A.; Nystroem, B.G.; Gerdin, B.

    1989-05-01

    The relations between degree of thoracic spinal cord compression causing myelographic block, reversible paraparesis, and extinction of the sensory evoked potential on one hand, and spinal cord blood flow on the other, were investigated. This was done in rats using the blocking weight-technique and /sup 14/C-iodoantipyrine autoradiography. A load of 9 g caused myelographic block. Five minutes of compression with that load caused a reduction of spinal cord blood flow to about 25%, but 5 and 60 minutes after the compression spinal cord blood flow was restored to 60% of the pretrauma value. A load of 35 g for 5 minutes caused transient paraparesis. Recovery to about 30% was observed 5 and 60 minutes thereafter. During compression at a load of 55 g, which caused almost total extinction of sensory evoked potential and irreversible paraplegia, spinal cord blood flow under the load ceased. The results indicate that myelographic block occurs at a load which does not cause irreversible paraparesis and that a load which permits sensory evoked potential to be elicited results in potentially salvageable damage.

  1. Rehabilitation and long-term course of nontraumatic myelopathy associated with surfing.

    PubMed

    Aoki, Masahiro; Moriizumi, Shigehiro; Toki, Megumi; Murakami, Takanori; Ishiai, Sumio

    2013-09-01

    A nontraumatic spinal cord injury related to surfing is called surfer's myelopathy. The case of a 26-yr-old man who became paraplegic after surfing without apparent traumatic events is described. Physical examination revealed a spinal cord injury at T12 according to the American Spinal Injury Association Impairment Scale A. The initial magnetic resonance image revealed a fusiform swelling of the spinal cord from T7-8 to the conus, which was hyperintense on T2-weighted images. After 6 mos of rehabilitation, the patient was followed for more than 1 yr after onset. He became able to walk with knee-ankle-foot-orthoses without assistance. A magnetic resonance image obtained 1 yr after the onset of paraplegia showed an atrophic spinal cord from T7-8 to the conus. The course of the neurologic findings and the imaging studies suggest that the pathogenesis of surfer's myelopathy may be ischemia of the anterior spinal artery territory induced by the abnormal trunk posture while surfing. PMID:22019977

  2. Real-Time Strap Pressure Sensor System for Powered Exoskeletons

    PubMed Central

    Tamez-Duque, Jesús; Cobian-Ugalde, Rebeca; Kilicarslan, Atilla; Venkatakrishnan, Anusha; Soto, Rogelio; Contreras-Vidal, Jose Luis

    2015-01-01

    Assistive and rehabilitative powered exoskeletons for spinal cord injury (SCI) and stroke subjects have recently reached the clinic. Proper tension and joint alignment are critical to ensuring safety. Challenges still exist in adjustment and fitting, with most current systems depending on personnel experience for appropriate individual fastening. Paraplegia and tetraplegia patients using these devices have impaired sensation and cannot signal if straps are uncomfortable or painful. Excessive pressure and blood-flow restriction can lead to skin ulcers, necrotic tissue and infections. Tension must be just enough to prevent slipping and maintain posture. Research in pressure dynamics is extensive for wheelchairs and mattresses, but little research has been done on exoskeleton straps. We present a system to monitor pressure exerted by physical human-machine interfaces and provide data about levels of skin/body pressure in fastening straps. The system consists of sensing arrays, signal processing hardware with wireless transmission, and an interactive GUI. For validation, a lower-body powered exoskeleton carrying the full weight of users was used. Experimental trials were conducted with one SCI and one able-bodied subject. The system can help prevent skin injuries related to excessive pressure in mobility-impaired patients using powered exoskeletons, supporting functionality, independence and better overall quality of life. PMID:25690551

  3. Bone mineral status in paraplegic patients who do or do not perform standing.

    PubMed

    Goemaere, S; Van Laere, M; De Neve, P; Kaufman, J M

    1994-05-01

    Bone mineral density (BMD) was assessed by dual-photon X-ray absorptiometry at the lumbar spine (L3, L4), the proximal femur and the femoral shaft, and by single-photon absorptiometry at the forearm in 53 patients with complete traumatic paraplegia of at least 1 year's duration and in age- and sex-matched healthy controls. The patients did (n = 38) or did not (n = 15) regularly perform passive weightbearing standing with the aid of a standing device. Compared with the controls, the BMD of paraplegic patients was preserved in the lumbar spine and was markedly decreased in the proximal femur (33%) and the femoral shaft (25%). When considering all patients performing standing, they had a better-preserved BMD at the femoral shaft (p = 0.009), but not at the proximal femur, than patients not performing standing. BMD at the lumbar spine (L3, L4) was marginally higher in the standing group (significant only for L3; p = 0.040). A subgroup of patients performing standing with use of long leg braces had a significantly higher BMD at the proximal femur than patients using a standing frame or a standing wheelchair (p = 0.030). The present results suggest that passive mechanical loading can have a beneficial effect on the preservation of bone mass in osteoporosis found in paraplegics. PMID:8069052

  4. Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

    PubMed

    Landrieu, Pierre; Baets, Jonathan; De Jonghe, Peter

    2013-01-01

    Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1). Others are demyelinating AR forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Pure motor HN represent<10% of HN but exhibit large clinical and genetic heterogeneity. Sensory/dysautonomic HN cover five classical subtypes, each one related to specific genes. However, genetic heterogeneity is largly greater than initially suspected. Syndromic HN distinguish: "purely neurological syndromes", which are multisystemic, usually AD disorders, such as spinocerebellar atrophies +, spastic paraplegias +, etc. Peripheral Neuropathy may be the presenting feature, including in childhood. Clearly degenerative, AR forms prompt to investigate a large set of pleiotropic genes. Other syndromes, expressed in the perinatal period and comprising malformative features, are mainly developmental disorders, sometimes related to specific transcription factors. Altogether, >40 genes with various biological functions have been found responsible for HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait: for the pediatric neurologist, phenotype/genotype correlations constitute a permanent bidirectional exercise. PMID:23622364

  5. An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome

    PubMed Central

    Allison, Rachel; Lumb, Jennifer H.; Fassier, Coralie; Connell, James W.; Ten Martin, Daniel; Seaman, Matthew N.J.; Hazan, Jamilé

    2013-01-01

    Mechanisms coordinating endosomal degradation and recycling are poorly understood, as are the cellular roles of microtubule (MT) severing. We show that cells lacking the MT-severing protein spastin had increased tubulation of and defective receptor sorting through endosomal tubular recycling compartments. Spastin required the ability to sever MTs and to interact with ESCRT-III (a complex controlling cargo degradation) proteins to regulate endosomal tubulation. Cells lacking IST1 (increased sodium tolerance 1), an endosomal sorting complex required for transport (ESCRT) component to which spastin binds, also had increased endosomal tubulation. Our results suggest that inclusion of IST1 into the ESCRT complex allows recruitment of spastin to promote fission of recycling tubules from the endosome. Thus, we reveal a novel cellular role for MT severing and identify a mechanism by which endosomal recycling can be coordinated with the degradative machinery. Spastin is mutated in the axonopathy hereditary spastic paraplegia. Zebrafish spinal motor axons depleted of spastin or IST1 also had abnormal endosomal tubulation, so we propose this phenotype is important for axonal degeneration. PMID:23897888

  6. Is cerebrospinal fluid drainage of benefit to neuroprotection in patients undergoing surgery on the descending thoracic aorta or thoracoabdominal aorta?

    PubMed Central

    Bilal, Haris; O'Neill, Bridie; Mahmood, Sarah; Waterworth, Paul

    2012-01-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was ‘Is cerebrospinal fluid (CSF) drainage of benefit in patients undergoing surgery on the descending thoracic aorta or thoracoabdominal aorta?’ Altogether 1177 papers were found using the reported search, of which 17 represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. Ten of 13 studies demonstrate significant neurological protection from CSF drainage (±additional adjuncts), with two further papers showing no significant difference between patients who had or had not had CSF drainage and one study unable to provide any conclusions. For patients having surgery on the thoracic aorta or thoracoabdominal aorta CSF drainage, maintaining pressures <10 mmHg (P < 0.03), in conjunction with other neuroprotective strategies, minimizes the risk of neurological sequelae when compared with patients treated with similar adjuncts but without CSF drainage. The majority of studies used additional neuroprotective strategies, including cooling and reattachment of the intercostal arteries as adjuncts to CSF drainage. Logistic regression curves demonstrated that the longer the ischaemia time, the greater the benefit from CSF drainage (P < 0.04). Four papers observed complications of CSF drainage, of which the main complications were: catheter occlusion or dislodgement, headache, meningitis and subdural haematoma. Overall, CSF drainage does offer a neuroprotective benefit; preventing paraplegia if CSF pressures are maintained <10 mmHg. PMID:22761120

  7. [The features of cardio-respiratory system and autonomic regulation in parasportsmen with spinal injury].

    PubMed

    Ternovo?, K S; Romanchuk, A P; Sorokin, M Iu; Pankova, N B

    2012-01-01

    A comprehensive study of the functional state of basketball athletes in wheelchairs with spinal cord injuries in the T6-T10 and paraplegia (n = 9, mean age 26.6 +/- 1.7 years) was held. As a control, we used disability groups with a similar injury, leading an active life (n = 13, mean age 44.5 +/- 2.6 years), athletes ( = 14, mean age 24.6 +/- 1.3 years) and healthy physically active men (n = 15, the average age of 24.9 +/- 0.6 years). In the athletes in wheelchairs it was revealed an increase in the length of the body in a sitting position, the increase in tidal volume and increasing in the effectiveness of the functional respiratory tests. These changes in the state of the musculoskeletal system and autonomic systems to ensure physical activity classified as adaptive and due to sports training. In the state of the cardiovascular system and its autonomic regulation parasportsmen showed a reduction in trauma-induced increase in diastolic blood pressure and increase in the magnitude of arterial baroreflex sensitivity, decreased due to spinal injury. These data indicate availability of compensatory processes aimed at optimizing the cardiovascular system through the mechanisms of baroreflex regulation. PMID:23101369

  8. Factors That Influence Employment After Spinal Cord Injury in South Korea

    PubMed Central

    Kang, Eun-Na; Shin, Hyung-Ik

    2014-01-01

    Objective To investigate employment status after spinal cord injury (SCI) and identify personal, family, and injury characteristics those affect their employment in South Korea. Methods Participants were 334 community-dwelling persons 20-64 years of age who had sustained SCI for more than one year. Investigators visited each participant's home to carry out the survey. Bivariate and binary logistic regression analyses were performed to identify personal, family, and injury characteristics that influenced employment after SCI. Results Employment rate decreased significantly from 82.5% to 27.5% after SCI. Logistic regression showed that the probability of employment was higher in men than women, and in individuals older than 45 years at the time of injury than those aged 31-45 years of age. Moreover, employment was higher in individuals injured for longer than 20 years than those injured for 1-5 years and in individuals with incomplete tetraplegia than those with complete paraplegia. Employment was lower in individuals with SCI caused by industrial accidents than those injured in non-industrial accidents. Conclusion Injury characteristics are the most important predictors of employment in persons with SCI. For persons with lower employment rate, individualized vocational rehabilitation and employment-support systems are required. PMID:24639924

  9. Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish.

    PubMed

    Song, Yang; Wang, Molin; Mao, Fei; Shao, Ming; Zhao, Baochang; Song, Zhen; Shao, Changshun; Gong, Yaoqin

    2013-03-01

    Mutations in patatin-like phospholipase domain containing 6 (PNPLA6), also known as neuropathy target esterase (NTE) or SPG39, cause hereditary spastic paraplegia (HSP). Although studies on animal models, including mice and Drosophila, have extended our understanding of PNPLA6, its roles in neural development and in HSP are not clearly understood. Here, we describe the generation of a vertebrate model of PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish (Danio rerio). Pnpla6 knockdown resulted in developmental abnormalities and motor neuron defects, including axon truncation and branching. The phenotypes in pnpla6 knockdown morphants were rescued by the introduction of wild-type, but not mutant, human PNPLA6 mRNA. Our results also revealed the involvement of BMP signaling in pnpla6 knockdown phenotypes. Taken together, these results demonstrate an important role of PNPLA6 in motor neuron development and implicate overexpression of BMP signaling as a possible mechanism underlying the developmental defects in pnpla6 morphants. PMID:22996643

  10. The effects of exercise on human articular cartilage

    PubMed Central

    Eckstein, F; Hudelmaier, M; Putz, R

    2006-01-01

    The effects of exercise on articular hyaline articular cartilage have traditionally been examined in animal models, but until recently little information has been available on human cartilage. Magnetic resonance imaging now permits cartilage morphology and composition to be analysed quantitatively in vivo. This review briefly describes the methodological background of quantitative cartilage imaging and summarizes work on short-term (deformational behaviour) and long-term (functional adaptation) effects of exercise on human articular cartilage. Current findings suggest that human cartilage deforms very little in vivo during physiological activities and recovers from deformation within 90 min after loading. Whereas cartilage deformation appears to become less with increasing age, sex and physical training status do not seem to affect in vivo deformational behaviour. There is now good evidence that cartilage undergoes some type of atrophy (thinning) under reduced loading conditions, such as with postoperative immobilization and paraplegia. However, increased loading (as encountered by elite athletes) does not appear to be associated with increased average cartilage thickness. Findings in twins, however, suggest a strong genetic contribution to cartilage morphology. Potential reasons for the inability of cartilage to adapt to mechanical stimuli include a lack of evolutionary pressure and a decoupling of mechanical competence and tissue mass. PMID:16637874

  11. Access to health and support services: perspectives of people living with a long-term traumatic spinal cord injury in rural and urban areas.

    PubMed

    Goodridge, Donna; Rogers, Marla; Klassen, Laura; Jeffery, Bonnie; Knox, Katherine; Rohatinsky, Noelle; Linassi, Gary

    2014-10-21

    Abstract Purpose: To examine the perspectives of persons living with traumatic spinal cord injuries (tSCI) on their access to health and support services. The specific aims were to identify the perceived gaps in access, classify the nature of the perceived gaps and compare differences in perceptions of access between urban and rural participants. Method: Using a descriptive, qualitative approach, semi-structured interviews were conducted with 23 adults living with tSCI, 13 of whom had paraplegia. Ten participants resided in rural areas and 16 were male. Thematic analysis allowed for the identification of patterns, which were then categorized according to the dimensions of access. Results: Opportunities to engage in health-promoting activities through a broad range of health and support services were at times limited, particularly by issues of affordability. In addition to core healthcare services, participants reported the need for complementary therapies, sports and leisure, peer support, equipment and mobility related services. Availability and accessibility of services was limited in some cases for rural participants, although rural residence conferred other valued benefits. Narratives of "not being heard" by providers were common. Conclusions: Maintaining health and well-being in people with tSCI demands access to both conventional health care and support services. Implications for Rehabilitation Access to both health and support services are important to maintaining the health and wellness of people with spinal cord injury. People with spinal cord injuries take an active role in coordinating their health, at times assuming various roles to compensate for perceived shortcomings of health care providers. Negotiating balances of power with gatekeepers in the health and insurance sectors was a key function of the coordinating role assumed by people with spinal cord injury. In order to effectively address the needs of this population, a coordinated interdisciplinary out-reach service, which includes peer support, must cross boundaries to engage sectors beyond traditional health care services, such as insurers and wellness providers. PMID:25332089

  12. Longitudinal relationship between wheelchair exercise capacity and life satisfaction in patients with spinal cord injury: A cohort study in the Netherlands

    PubMed Central

    van Koppenhagen, Casper Floris; Post, Marcel; de Groot, Sonja; van Leeuwen, Christel; van Asbeck, Floris; Stolwijk-Swüste, Janneke; van der Woude, Lucas; Lindeman, Eline

    2014-01-01

    Objective To examine the relationship between wheelchair exercise capacity and life satisfaction in persons with spinal cord injury from the start of active inpatient rehabilitation up to 5 years after discharge. Design Prospective cohort study. Subjects Persons with spinal cord injury, aged 18–65 years, and wheelchair dependent at least for long distances. Method Measurements at the start of active rehabilitation, after 3 months, at discharge from inpatient rehabilitation, and 1 and 5 years after discharge. A peak wheelchair exercise test was performed to record peak oxygen uptake (VO2peak) and peak power output (POpeak). Life satisfaction was measured as current life satisfaction and change of life satisfaction in comparison with life after spinal cord injury. Relationships between (changes in) exercise capacity and (changes in) life satisfaction were analyzed random coefficient analysis, corrected for possible confounders (age, gender, level of lesion, functional status, secondary impairments, pain, and sports activity) if necessary. Results Of 225 persons included, 130 attended two or more peak exercise tests, who were include in the analyses. Mean age at start was 39 years, 75% were male, 73% had paraplegia, and 76% had a traumatic lesion. Mean POpeak increased during the study from 32.9 to 55.9 Watts, mean VO2peak from 1.02  to 1.38 l/minute, and mean life satisfaction from 5.7 to 7.8. An increase of POpeak with 10 W was associated with a 0.3-point increase of life satisfaction (P = 0.01). An increase of VO2peak with 0.1 l/minute was associated with a 0.1-point increase of life satisfaction (P = 0.049). Conclusion High(er) wheelchair exercise capacity is related to high(er) life satisfaction in spinal cord injury patients. PMID:24621019

  13. Intravenous colistin-induced acute respiratory failure: A case report and a review of literature.

    PubMed

    Shrestha, Amardeep; Soriano, Sheryll Mae; Song, Mingchen; Chihara, Shingo

    2014-07-01

    The emergence of multi-drug-resistant gram negative bacillary infections has regained popularity of ancient drugs such as polymyxins. We report a case of acute respiratory failure induced by use of intravenous colistimethate, which is one of the forms of polymyxin. The patient is a 31 year old female with paraplegia due to spina bifida who underwent excisional debridement of large lumbosacral decubitus ulcer with osteomyelitis infected with pan-resistant Pseudomonas aeruginosa and MRSA. Six days after initiation of intravenous colistimethate and vancomycin, she developed acute respiratory failure requiring mechanical ventilation. Pan-culture was negative including a chest radiograph. V/Q scan showed low probability for pulmonary embolism. Echocardiogram showed normal right ventricle with no strain or pulmonary hypertension. Colistimethate was discontinued. Within 24 hours, she was extubated. In the early years after introduction of polymyxin, there were several reports of acute respiratory paralysis. The mechanism is thought to be noncompetitive myoneuronal presynaptic blockade of acetylcholine release. Though a direct causal relationship for respiratory failure is often difficult to establish in current era with multiple co morbidities, the timeframe of apnea, acuity of onset as well as rapid recovery in our case clearly point out the causal relationship. In addition, our patient also developed acute renal failure, presumably due to colistimethate induced nephrotoxicity, a possible contributing factor for her acute respiratory failure. In summary, colistimethate can induce acute neurotoxicity including respiratory muscular weakness and acute respiratory failure. Clinicians should consider its toxicity in the differential diagnosis of acute respiratory failure especially in critically ill patients. PMID:25337492

  14. Sepsis of the hip due to pressure sore in spinal cord injured patients: advocacy for a one-stage surgical procedure.

    PubMed

    Le Fort, M; Rome-Saulnier, J; Lejeune, F; Bellier-Waast, F; Touchais, S; Kieny, P; Duteille, F; Perrouin-Verbe, B

    2014-11-01

    Study design:Retrospective study reporting characteristics and management of septic arthritis of the hip due to pressure sores in spinal cord-injured patients.Objectives:To describe clinical and biological data of septic arthritis of the hip and its treating management.Setting:The database of the regional SCI referral center, Nantes, France.Methods:We retrospectively collected data from 33 cases of septic arthritis of the hip in the medical files of 26 patients.Results:We analyzed 33 cases of septic arthritis of the hip treated in one French referent center for spinal cord-injured patients from January 1988 to December 2009. Most patients had a thoracic complete paraplegia and nearly two-third (17 out of 26) had no systematic follow-up. In 25 out of 33 cases, the septic arthritis of the hip was due to a trochanteric pressure sore. The causal pressure sore was most frequently associated with a persistent drainage. The standard radiological examination led to the diagnosis in 30 cases and, in 7 questionable cases, magnetic resonance imaging was more contributory. Surgery always consisted of a wide carcinological-like excision and of a subtrochanteric proximal femoral resection including both greater and lesser trochanters. A musculocutaneous flap was realized for all cases and the choice of the muscle depended on the localization of the causal pressure sore but also of the remaining choices, as most of the patients had already undergone a prior surgery. An antibiotic treatment was adapted to multiple samples during surgery.Conclusion:We do advocate for a one-stage procedure including a subtrochanteric proximal femoral resection and a musculocutaneous flap.Spinal Cord advance online publication, 4 November 2014; doi:10.1038/sc.2014.170. PMID:25366526

  15. Apoptosis of oligodendrocytes occurs for long distances away from the primary injury after compression trauma to rat spinal cord.

    PubMed

    Li, G L; Farooque, M; Holtz, A; Olsson, Y

    1999-11-01

    We evaluated by in situ nick end labeling the presence of apoptotic glial cells in the spinal cord of rats which have sustained a moderate and severe compression injury at the level of T8-9, resulting in a severe but reversible paraparesis and irreversible paraplegia, respectively. In a previous investigation we found apoptotic glial cells (oligodendrocytes) in the immediate vicinity of the primary lesion (T7 and T10). The present study was designed to evaluate the extent of such cells in the spinal cord even at long distances away from the primary injury. Rats sustaining a moderate and severe compression injury and surviving 4 and 9 days showed a significant increase in the number of apoptotic glial cells at the T1, T5, T7, T12 and L2 levels. At the T10 level the elevation was significant only after day 9. There was no significant increase in the number of these cells at 4 h and 1 day after moderate and severe compression. In general, the apoptotic cells were most often seen in segments adjacent to the compression. They were randomly located in the ventral, lateral and dorsal tracts but were rarely present in the gray matter of the cord. In conclusion, compression trauma to rat spinal cord induces signs of apoptosis in glial cells, presumably oligodendrocytes of the long tracts. This newly discovered type of secondary injury is widely distributed in the damaged spinal cord and occurs even at long distances remote from the initial compression injury. Apoptotic cell death of oligodendrocytes will induce myelin degeneration and cause additional disturbances of axonal function. This cell damage may be a target for future therapy since it occurs after a delay and chemical compounds are now available by which apoptotic cell death can be modified. PMID:10541870

  16. Improved recovery after spinal cord injury in neuronal nitric oxide synthase-deficient mice but not in TNF-alpha-deficient mice.

    PubMed

    Farooque, M; Isaksson, J; Olsson, Y

    2001-01-01

    Wild-type mice and mice lacking nitric oxide synthase (NOS) of neuronal type or TNF-alpha were subjected to an extradural compression of the thoracic spinal cord. The functional outcome of the hind limbs was assessed by using a motor function score (MFS). The injury resulted in paraplegia of the hind limbs in wild-type mice at day 1 after injury. Gradual recovery was observed during the following 14 days. Injured NOS -/- animals had an improved hind limb motor function during the entire observation period compared to wild-type controls. The difference was statistically significant on day 10 (p < 0.022) and day 14 (p < 0.048) after injury. At the site of injury, there was a trend of gray matter preservation in NOS -/- mice, as measured by MAP2 staining (p < 0.077). Injured mice lacking TNF-alpha had the lowest motor score among all the groups on day 1. During the following period, they had motor scores similar to those of wild-type controls and there was no significant difference at any time point. TNF-alpha -/- animals showed a trend of decreased white matter preservation compared to wild-type animals (p < 0.097). Our study shows that after spinal cord injury, mice lacking NOS have a better functional ability of their hind limbs than controls with the same degree of injury. This would indicate that the functional outcome is influenced in a negative way in wild mice by the presence of NO. The degree of secondary damage to the spinal cord might be attenuated in NOS-deficient mice. PMID:11200245

  17. Mice with a deletion of the major central myelin protein exhibit hypersensitivity to noxious thermal stimuli: involvement of central sensitization.

    PubMed

    Petit, Bérengère; Giraudet, Fabrice; Béchon, Céline; Bardin, Laurent; Avan, Paul; Boespflug-Tanguy, Odile; Bégou, Mélina

    2014-05-01

    Null mutations in the gene encoding the major myelin protein of the central nervous system, proteolipid protein 1 (PLP1), cause an X-linked form of spastic paraplegia (SPG2) associated with axonal degeneration. While motor symptoms are the best known manifestations of this condition, its somatosensory disturbances have been described but poorly characterized. We carried out a longitudinal study in an animal model of SPG2 - mice carrying a deletion of the Plp1 gene (Plp-null mice). Plp-null mice exhibited severe early-onset thermal hyperalgesia, in the absence of thermal allodynia. We first performed an electrophysiological testing which showed an early decrease in peripheral and spinal conduction velocities in Plp null mice. Such as the abnormal sensitive behaviors, this slowing of nerve conduction was observed before the development of myelin abnormalities at the spinal level, from 3months of age, and without major morphological defects in the sciatic nerve. To understand the link between a decrease in nerve velocity and an increased response to thermal stimuli before the appearance of myelin abnormalities, we focused our attention on the dorsal horn of the spinal cord, the site of integration of somatosensory information. Immunohistochemical studies revealed an early-onset activation of astrocytes and microglia that worsened with age, associated later in age with perturbation of the expression of the sensory neuropeptides calcitonin-gene-related peptide and galanin. Taken together, these results represent complementary data supporting the hypothesis that Plp-null mice suffer from ganglionopathy associated with late onset central demyelination but with few peripheral nerve alterations, induced by the glial-cell-mediated sensitization of the spinal cord. The mechanism suggested here could underlie pain experiments in other leukodystrophies as well as in other non-genetic demyelinating diseases such as multiple sclerosis. PMID:24423646

  18. Overview of Psychosocial Health Among Youth with Spinal Cord Injury

    PubMed Central

    2013-01-01

    Background: Psychosocial health can be conceptualized as being mentally, emotionally, and socially well. Little is known about normative psychosocial development among children and adolescents with spinal cord injury (SCI). Objective: To provide a comprehensive overview of psychosocial health of 410 youth with SCI from ages 2 to 18 years. To understand developmental trends, data are presented separately for ages 2-5, 6-12, 13-15, and 16-18 years. Methods: Youth with SCI were recruited from 1 of 3 pediatric specialty hospitals within a single hospital system. Structured surveys assessing community participation, quality of life (QOL), and mental health (including anxiety and depression) were completed by youth with SCI (for ages 6-18) or their primary caregivers (for ages 2-5). Descriptive statistics were used to assess how patients scored on all standardized measures. Results: Of the 410 participants, 56% were male, 64% were Caucasian, 66% had paraplegia, and 55% had complete injuries. On average, the participants were 12 years old (SD 4.87) at interview and 7.26 years old (SD 5.97) at injury. Psychosocial health outcomes were described for each of the 4 age groups: 2-5 years (n = 52), 6-12 (n = 142), 13-15 (n = 82), and 16-18 (n = 134) years. Conclusions: As compared to published norms, this sample of youth with SCI seemed to be experiencing decreased levels of community participation and QOL, but also decreased levels of anxiety and depression. These data provide needed information to clinicians regarding how youth with SCI may typically experience psychosocial health and where their patients fit into that typical experience. PMID:23671383

  19. Effect of sports activity on bone mineral density in wheelchair athletes.

    PubMed

    Miyahara, Kimiko; Wang, Da-Hong; Mori, Keiko; Takahashi, Kayo; Miyatake, Nobuyuki; Wang, Bing-Ling; Takigawa, Tomoko; Takaki, Jiro; Ogino, Keiki

    2008-01-01

    The present study carried out a measurement of body composition and a nutrition survey, targeting 28 male wheelchair athletes and comparing them with 25 male physically able healthy athletes as the controls. The DXA method was used to measure bone mineral density (BMD), percentage of body fat (% body fat), and lean body mass (LBM). Possible factors affecting the BMD of the wheelchair athletes with spinal injuries were analyzed including age, body part, type of sport, area of injury, length of injury, and the length of time it took before restarting sports activity after injury. BMD in the arms, body trunk, legs, and entire body was measured. There were no significant differences in the BMD of the wheelchair athletes by age group (from 20 to 29, from 30 to 39, and 40 years and older), by sports (basketball, track and field, and tennis), and by area of injury (high and low paraplegia). BMD in the legs (r = -0.549, P < 0.01), body trunk (r = -0.414, P < 0.05), and entire body (r = -0.452, P < 0.05) of the wheelchair athletes was negatively correlated with the period since injury; however, no such a relationship was observed in the arms. In addition, the multiple regression analysis for BMD of each body region showed that the earlier the wheelchair athletes restarted sports after injury, the higher values the BMD of legs (r = -0.467, P < 0.05), body trunk (r = -0.469, P < 0.05), and entire body (r = -0.488, P < 0.05), independent of age and sports. The leg BMD of the wheelchair athletes was lower than that of the physically able athletes, with a BMD 76.5% of the controls. The present study suggests that restarting sports activity in a timely manner after treatment and rehabilitation for the injury is useful in preventing loss of BMD in wheelchair athletes and ultimately improving their quality of life. PMID:18095071

  20. Endovascular Repair versus Open Repair for Isolated Descending Thoracic Aortic Aneurysm

    PubMed Central

    Lee, Hyung Chae; Joo, Hyun-Chel; Lee, Seung Hyun; Lee, Sak; Chang, Byung-Chul; Yoo, Kyung-Jong

    2015-01-01

    Purpose To compare the outcomes of thoracic endovascular aortic repair (TEVAR) with those of open repair for descending thoracic aortic aneurysms (DTAA). Materials and Methods We compared the outcomes of 114 patients with DTAA and proximal landing zones 3 or 4 after TEVAR to those of 53 patients after conventional open repairs. Thirty-day and late mortality were the primary endpoints, and early morbidities, aneurysm-related death, and re-intervention were the secondary endpoints. Results The TEVAR group was older and had more incidences of dissecting aneurysm. The mean follow-up was 36±26 months (follow-up rate, 97.8%). The 30-day mortality in the TEVAR and open repair groups were 3.5% and 9.4% (p=0.11). Perioperative stroke and paraplegia incidences were similar between the groups [5.3% vs. 7.5% (p=0.56) and 7.5% vs. 3.5% (p=0.26), respectively]. Respiratory failure occurred more in the open repair group (1.8% vs. 26.4%, p<0.01). The incidence of acute kidney injury requiring dialysis was higher in the open repair group (1.8% vs. 9.4%, p<0.01). The cumulative survival rate was higher in the TEVAR group at 2 to 5 years (79.6% vs. 58.3%, p=0.03). The free from re-intervention was lower in the TEVAR group (65.3% vs. 100%, p=0.02), and the free from aneurysm-related death in the TEVAR and open repair groups were 88.5% and 86.1% (p=0.45). Conclusion TEVAR is safe and effective for treating DTAAs with improved perioperative and long-term outcomes compared with open repair. PMID:26069110

  1. REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.

    PubMed

    Hurt, Carl M; Björk, Susann; Ho, Vincent K; Gilsbach, Ralf; Hein, Lutz; Angelotti, Timothy

    2014-01-30

    The six members of the Receptor Expression Enhancing Protein (REEP) family were originally identified based on their ability to enhance heterologous expression of olfactory receptors and other difficult to express G protein-coupled receptors. Interestingly, REEP1 mutations have been linked to neurodegenerative disorders of upper and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy type V (dHMN-V). The closely related REEP2 isoform has not demonstrated any such disease linkage. Previous research has suggested that REEP1 mRNA is ubiquitously expressed in brain, muscle, endocrine, and multiple other organs, inconsistent with the neurodegenerative phenotype observed in HSP and dHMN-V. To more fully examine REEP1 expression, we developed and characterized a new REEP1 monoclonal antibody for both immunoblotting and immunofluorescent microscopic analysis. Unlike previous RT-PCR studies, immunoblotting demonstrated that REEP1 protein was not ubiquitous; its expression was restricted to neuronal tissues (brain, spinal cord) and testes. Gene expression microarray analysis demonstrated REEP1 and REEP2 mRNA expression in superior cervical and stellate sympathetic ganglia tissue. Furthermore, expression of endogenous REEP1 was confirmed in cultured murine sympathetic ganglion neurons by RT-PCR and immunofluorescent staining, with expression occurring between Day 4 and Day 8 of culture. Lastly, we demonstrated that REEP2 protein expression was also restricted to neuronal tissues (brain and spinal cord) and tissues that exhibit neuronal-like exocytosis (testes, pituitary, and adrenal gland). In addition to sensory tissues, expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders. PMID:24355597

  2. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

    PubMed

    Beetz, Christian; Pieber, Thomas R; Hertel, Nicole; Schabhüttl, Maria; Fischer, Carina; Trajanoski, Slave; Graf, Elisabeth; Keiner, Silke; Kurth, Ingo; Wieland, Thomas; Varga, Rita-Eva; Timmerman, Vincent; Reilly, Mary M; Strom, Tim M; Auer-Grumbach, Michaela

    2012-07-13

    The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron. In a family with both autosomal-dominant dHMN and dHMN type V (dHMN/dHMN-V) present in three generations, we excluded mutations in all genes known to be associated with a dHMN phenotype through Sanger sequencing and defined three potential loci through linkage analysis. Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1 (c.304-2A>G). A minigene assay confirmed complete loss of splice-acceptor functionality and skipping of the in-frame exon 5. The resulting mRNA is predicted to be expressed at normal levels and to encode an internally shortened protein (p.102_139del). Loss-of-function REEP1 mutations have previously been identified in dominant hereditary spastic paraplegia (HSP), a disease associated with upper-motoneuron pathology. Consistent with our clinical-genetic data, we show that REEP1 is strongly expressed in the lower motoneurons as well. Upon exogeneous overexpression in cell lines we observe a subcellular localization defect for p.102_139del that differs from that observed for the known HSP-associated missense mutation c.59C>A (p.Ala20Glu). Moreover, we show that p.102_139del, but not p.Ala20Glu, recruits atlastin-1, i.e., one of the REEP1 binding partners, to the altered sites of localization. These data corroborate the loss-of-function nature of REEP1 mutations in HSP and suggest that a different mechanism applies in REEP1-associated dHMN. PMID:22703882

  3. N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.

    PubMed

    Yagi, Takuya; Ito, Daisuke; Nihei, Yoshihiro; Ishihara, Tadayuki; Suzuki, Norihiro

    2011-10-01

    Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. Previous in vitro studies have shown that seipinopathy-linked mutations result in accumulation of unfolded proteins in the endoplasmic reticulum (ER), leading to the unfolded protein response and cell death, suggesting that seipinopathies is closely associated with ER stress. To further understand the molecular pathogenesis of seipinopathies, we generated a transgenic (tg) mouse line expressing the human N88S seipin mutant with the murine Thy-1 promoter to permit analyses of in vivo phenotypic changes. The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and neurogenic muscular atrophy, recapitulating the symptomatic and pathological phenotype in patients of seipinopathy. We also found that expression of mutant seipin in mice upregulated the ER stress marker, immunoglobulin-heavy-chain-binding protein, protein disulfide isomerase and X-box binding protein 1, but was not linked to significant neuronal loss in affected tissue, thereby indicating that ER stress is sufficient, while neuronal death is not necessary, for the development of motor phenotypes of seipinopathies. Our findings in the mutant seipin tg mouse provide clues to understand the relationship with ER stress and neurodegeneration, and the seipin tg mouse is a valid tool for the development of novel therapeutic strategies against ER stress-related diseases. PMID:21750110

  4. Early onset (childhood) monogenic neuropathies.

    PubMed

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent <10% of HN but exhibit large clinical and genetic heterogeneity. Sensory/dysautonomic HN involves five classic subtypes, each one related to specific genes. However, genetic heterogeneity is larger than initially suspected. Syndromic HN distinguish "purely neurological syndromes", which are multisystemic, such as spinocerebellar atrophies +, spastic paraplegias +, etc. Peripheral neuropathy is possibly the presenting feature, including in childhood. Autosomal recessive forms, on average, start more frequently in childhood. "Multiorgan syndromes", on the other hand, are more specific to Pediatrics. AR forms, which are clearly degenerative, prompt the investigation of a large set of pleiotropic genes. Other syndromes expressed in the perinatal period are mainly developmental disorders, and can sometimes be related to specific transcription factors. Systematic malformative workup and ethical considerations are necessary. Altogether, >40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission. PMID:23931819

  5. The distal hereditary motor neuropathies.

    PubMed

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data. PMID:22028385

  6. Spastin binds to lipid droplets and affects lipid metabolism.

    PubMed

    Papadopoulos, Chrisovalantis; Orso, Genny; Mancuso, Giuseppe; Herholz, Marija; Gumeni, Sentiljana; Tadepalle, Nimesha; Jüngst, Christian; Tzschichholz, Anne; Schauss, Astrid; Höning, Stefan; Trifunovic, Aleksandra; Daga, Andrea; Rugarli, Elena I

    2015-04-01

    Mutations in SPAST, encoding spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP). HSP is characterized by weakness and spasticity of the lower limbs, owing to progressive retrograde degeneration of the long corticospinal axons. Spastin is a conserved microtubule (MT)-severing protein, involved in processes requiring rearrangement of the cytoskeleton in concert to membrane remodeling, such as neurite branching, axonal growth, midbody abscission, and endosome tubulation. Two isoforms of spastin are synthesized from alternative initiation codons (M1 and M87). We now show that spastin-M1 can sort from the endoplasmic reticulum (ER) to pre- and mature lipid droplets (LDs). A hydrophobic motif comprised of amino acids 57 through 86 of spastin was sufficient to direct a reporter protein to LDs, while mutation of arginine 65 to glycine abolished LD targeting. Increased levels of spastin-M1 expression reduced the number but increased the size of LDs. Expression of a mutant unable to bind and sever MTs caused clustering of LDs. Consistent with these findings, ubiquitous overexpression of Dspastin in Drosophila led to bigger and less numerous LDs in the fat bodies and increased triacylglycerol levels. In contrast, Dspastin overexpression increased LD number when expressed specifically in skeletal muscles or nerves. Downregulation of Dspastin and expression of a dominant-negative variant decreased LD number in Drosophila nerves, skeletal muscle and fat bodies, and reduced triacylglycerol levels in the larvae. Moreover, we found reduced amount of fat stores in intestinal cells of worms in which the spas-1 homologue was either depleted by RNA interference or deleted. Taken together, our data uncovers an evolutionarily conserved role of spastin as a positive regulator of LD metabolism and open up the possibility that dysfunction of LDs in axons may contribute to the pathogenesis of HSP. PMID:25875445

  7. ?-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.

    PubMed

    Ridley, Christina M; Thur, Karen E; Shanahan, Jessica; Thillaiappan, Nagendra Babu; Shen, Ann; Uhl, Karly; Walden, Charlotte M; Rahim, Ahad A; Waddington, Simon N; Platt, Frances M; van der Spoel, Aarnoud C

    2013-09-01

    ?-Glucosidase 2 (GBA2) is an enzyme that cleaves the membrane lipid glucosylceramide into glucose and ceramide. The GBA2 gene is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia). Pharmacologically, GBA2 is reversibly inhibited by alkylated imino sugars that are in clinical use or are being developed for this purpose. We have addressed the ambiguity surrounding one of the defining characteristics of GBA2, which is its sensitivity to inhibition by conduritol B epoxide (CBE). We found that CBE inhibited GBA2, in vitro and in live cells, in a time-dependent fashion, which is typical for mechanism-based enzyme inactivators. Compared with the well characterized impact of CBE on the lysosomal glucosylceramide-degrading enzyme (glucocerebrosidase, GBA), CBE inactivated GBA2 less efficiently, due to a lower affinity for this enzyme (higher KI) and a lower rate of enzyme inactivation (k(inact)). In contrast to CBE, N-butyldeoxygalactonojirimycin exclusively inhibited GBA2. Accordingly, we propose to redefine GBA2 activity as the ?-glucosidase that is sensitive to inhibition by N-butyldeoxygalactonojirimycin. Revised as such, GBA2 activity 1) was optimal at pH 5.5-6.0; 2) accounted for a much higher proportion of detergent-independent membrane-associated ?-glucosidase activity; 3) was more variable among mouse tissues and neuroblastoma and monocyte cell lines; and 4) was more sensitive to inhibition by N-butyldeoxynojirimycin (miglustat, Zavesca®), in comparison with earlier studies. Our evaluation of GBA2 makes it possible to assess its activity more accurately, which will be helpful in analyzing its physiological roles and involvement in disease and in the pharmacological profiling of monosaccharide mimetics. PMID:23880767

  8. Effectiveness of intense, activity-based physical therapy for individuals with spinal cord injury in promoting motor and sensory recovery: Is olfactory mucosa autograft a factor?

    PubMed Central

    Larson, Cathy A.; Dension, Paula M.

    2013-01-01

    Background/objectives Rehabilitation for individuals with spinal cord injury (SCI) is expanding to include intense, activity-based, out-patient physical therapy (PT). The study's primary purposes were to (i) examine the effectiveness of intense PT in promoting motor and sensory recovery in individuals with SCI and (ii) compare recovery for individuals who had an olfactory mucosa autograft (OMA) with individuals who did not have the OMA while both groups participated in the intense PT program. Methods Prospective, non-randomized, non-blinded, intervention study. Using the American Spinal Injury Association examination, motor and sensory scores for 23 (7 OMA, 6 matched control and 10 other) participants were recorded. Results Mean therapy dosage was 137.3 total hours. The participants’ total, upper and lower extremity motor scores improved significantly while sensory scores did not improve during the first 60 days and from initial to discharge examination. Incomplete SCI or paraplegia was associated with greater motor recovery. Five of 14 participants converted from motor-complete to motor-incomplete SCI. Individuals who had the OMA and participated in intense PT did not have greater sensory or greater magnitude or rate of motor recovery as compared with participants who had intense PT alone. Conclusion This study provides encouraging evidence as to the effectiveness of intense PT for individuals with SCI. Future research is needed to identify the optimal therapy dosage and specific therapeutic activities required to generate clinically meaningful recovery for individuals with SCI including those who elect to undergo a neural recovery/regenerative surgical procedure and those that elect intense therapy alone. PMID:23433335

  9. Neurology and diving.

    PubMed

    Massey, E Wayne; Moon, Richard E

    2014-01-01

    Diving exposes a person to the combined effects of increased ambient pressure and immersion. The reduction in pressure when surfacing can precipitate decompression sickness (DCS), caused by bubble formation within tissues due to inert gas supersaturation. Arterial gas embolism (AGE) can also occur due to pulmonary barotrauma as a result of breath holding during ascent or gas trapping due to disease, causing lung hyperexpansion, rupture and direct entry of alveolar gas into the blood. Bubble disease due to either DCS or AGE is collectively known as decompression illness. Tissue and intravascular bubbles can induce a cascade of events resulting in CNS injury. Manifestations of decompression illness can vary in severity, from mild (paresthesias, joint pains, fatigue) to severe (vertigo, hearing loss, paraplegia, quadriplegia). Particularly as these conditions are uncommon, early recognition is essential to provide appropriate management, consisting of first aid oxygen, targeted fluid resuscitation and hyperbaric oxygen, which is the definitive treatment. Less common neurologic conditions that do not require hyperbaric oxygen include rupture of a labyrinthine window due to inadequate equalization of middle ear pressure during descent, which can precipitate vertigo and hearing loss. Sinus and middle ear overpressurization during ascent can compress the trigeminal and facial nerves respectively, causing temporary facial hypesthesia and lower motor neuron facial weakness. Some conditions preclude safe diving, such as seizure disorders, since a convulsion underwater is likely to be fatal. Preventive measures to reduce neurologic complications of diving include exclusion of individuals with specific medical conditions and safe diving procedures, particularly related to descent and ascent. PMID:24365363

  10. Posterior short segment pedicle screw fixation and TLIF for the treatment of unstable thoracolumbar/lumbar fracture

    PubMed Central

    2014-01-01

    Background Currently, Posterior Short Segment Pedicle Screw Fixation is a popular procedure for treating unstable thoracolumbar/lumbar burst fracture. But progressive kyphosis and a high rate of hardware failure because of lack of the anterior column support remains a concern. The efficacy of different methods remains debatable and each technique has its advantages and disadvantages. Methods A consecutive series of 20 patients with isolated thoracolumbar/lumbar burst fractures were treated by posterior short segment pedicle screw fixation and transforaminal thoracolumbar/lumbar interbody fusion (TLIF) between January 2005 and December 2007. All patients were followed up for a minimum of 2 years. Demographic data, neurologic status, anterior vertebral body heights, segmental Cobb angle and treatment-related complications were evaluated. Results The mean operative time was 167 minutes (range, 150–220). Blood loss was 450 ~ 1200 ml, an average of 820 ml. All patients recovered with solid fusion of the intervertebral bone graft, without main complications like misplacement of the pedicle screw, nerve or vessel lesion or hard ware failure. The post-operative radiographs demonstrated a good fracture reduction and it was well maintained until the bone graft fusion. Neurological recovery of one to three Frankel grade was seen in 14 patients with partial neurological deficit, three grades of improvement was seen in one patient, two grades of improvement was observed in 6 patients and one grade of improvement was found in 6 patients. All the 6 patients with no paraplegia on admission remained neurological intact, and in one patient with Frankel D on admission no improvement was observed. Conclusion Posterior short-segment pedicle fixation in conjunction with TLIF seems to be a feasible option in the management of selected thoracolumbar/lumbar burst fractures, thereby addressing all the three columns through a single approach with less trauma and good results. PMID:24517217

  11. Cauda equina syndrome.

    PubMed

    Orendácová, J; Cízková, D; Kafka, J; Lukácová, N; Marsala, M; Sulla, I; Marsala, J; Katsube, N

    2001-08-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory disorders may appear. These disorders include low-back pain, saddle anesthesia, bilateral sciatica, then motor weakness of the lower extremities or chronic paraplegia and, bladder dysfunction. Multiple etiologies can cause the cauda equina syndrome. Among them, non-neoplastic compressive etiologies such as herniated lumbosacral discs and spinal stenosis and spinal neoplasms play a significant role in the development of the cauda equina syndrome. Non-compressive etiologies of the cauda equina syndrome include ischemic insults, inflammatory conditions, spinal arachnoiditis and other infectious etiologies. The use of canine, porcine and rat models mimicking the cauda equina syndrome enabled discovery of the effects of the compression on nerve root neural and vascular anatomy, the impairment of impulse propagation and the changes of the neurotransmitters in the spinal cord after compression of cauda equina. The involvement of intrinsic spinal cord neurons in the compression-induced cauda equina syndrome includes anterograde, retrograde and transneuronal degeneration in the lumbosacral segments. Prominent changes of NADPH diaphorase exhibiting, Fos-like immunoreactive and heat shock protein HSP72 were detected in the lumbosacral segments in a short-and long-lasting compression of the cauda equina in the dog. Developments in the diagnosis and treatment of patients with back pain, sciatica and with a herniated lumbar disc are mentioned, including many treatment options available. PMID:11311464

  12. Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

    PubMed Central

    Rainier, Shirley; Bui, Melanie; Mark, Erin; Thomas, Donald; Tokarz, Debra; Ming, Lei; Delaney, Colin; Richardson, Rudy J.; Albers, James W.; Matsunami, Nori; Stevens, Jeff; Coon, Hilary; Leppert, Mark; Fink, John K.

    2008-01-01

    The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target esterase (NTE) is inhibited by organophosphorylation. We evaluated a consanguineous kindred and a genetically unrelated nonconsanguineous kindred in which affected subjects exhibited progressive spastic paraplegia and distal muscle wasting. Affected subjects resembled those with OPIDN and those with Troyer Syndrome due to SPG20/spartin gene mutation (excluded by genetic linkage and SPG20/spartin sequence analysis). Genome-wide analysis suggested linkage to a 22 cM homozygous locus (D19S565 to D19S884, maximum multipoint LOD score 3.28) on chromosome 19p13 to which NTE had been mapped (GenBank AJ004832). NTE was a candidate because of its role in OPIDN and the similarity of our patients to those with OPIDN. Affected subjects in the consanguineous kindred were homozygous for disease-specific NTE mutation c.3034A?G that disrupted an interspecies conserved residue (M1012V) in NTE's catalytic domain. Affected subjects in the nonconsanguineous family were compound heterozygotes: one allele had c.2669G?A mutation, which disrupts an interspecies conserved residue in NTE's catalytic domain (R890H), and the other allele had an insertion (c.2946_2947insCAGC) causing frameshift and protein truncation (p.S982fs1019). Disease-specific, nonconserved NTE mutations in unrelated MND patients indicates NTE's importance in maintaining axonal integrity, raises the possibility that NTE pathway disturbances contribute to other MNDs including ALS, and supports the role of NTE abnormalities in axonopathy produced by neuropathic OP compounds. PMID:18313024

  13. [A case of medulla oblongata compression by tortuous vertebral arteries presenting with spastic quadriplegia].

    PubMed

    Kamada, Takashi; Tateishi, Takahisa; Yamashita, Tamayo; Nagata, Shinji; Ohyagi, Yasumasa; Kira, Jun-Ichi

    2013-01-01

    We report a 58-year-old man showing spastic paraparesis due to medulla oblongata compression by tortuous vertebral arteries. He noticed weakness of both legs and gait disturbance at the age of 58 years and his symptoms progressively worsened during the following several months. General physical findings were normal. Blood pressure was normal and there were no signs of arteriosclerosis. Neurological examination on admission revealed lower-limb-dominant spasticity in all four extremities, lower-limb weakness, hyperreflexia in all extremities with positive Wartenberg's, Babinski's and Chaddock's signs, mild hypesthesia and hypopallesthesia in both lower limbs, and spastic gait. Cranial nerves were all normal. Serum was negative for antibodies against human T-cell lymphotropic virus-1 antibody. Nerve conduction and needle electromyographic studies of all four limbs revealed normal findings. Cervical, thoracic and lumbo-sacral magnetic resonance imaging (MRI) findings were all normal. Brain MRI and magnetic resonance angiography demonstrated bilateral tortuous vertebral arteries compressing the medulla oblongata. Neurovascular decompression of the right vertebral artery was performed because compression of the right side was more severe than that of the left side. Post-operative MRI revealed outward translocation of the right vertebral artery and relieved compression of the medulla oblongata on the right side. The patient's symptoms and neurological findings improved gradually after the operation. Bilateral pyramidal tract signs without cranial nerve dysfunction due to compression of the medulla oblongata by tortuous vertebral arteries are extremely rare and clinically indistinguishable from hereditary spastic paraplegia (HSP). Although we did not perform a genetic test for HSP, we consider that the spastic paraparesis and mild lower-limb hypesthesia were caused by compression of the medulla oblongata by bilateral tortuous vertebral arteries based on the post-operative improvement in symptoms. Given the favorable effects of surgery, tortuous vertebral arteries should be considered in the differential diagnosis of patients presenting with progressive spastic paraparesis. PMID:23719983

  14. The short- and long-term risk of venous thromboembolism in patients with acute spinal cord injury: a prospective cohort study.

    PubMed

    Giorgi Pierfranceschi, M; Donadini, Marco P; Dentali, Francesco; Ageno, Walter; Marazzi, Marina; Bocchi, Romeo; Imberti, Davide

    2013-01-01

    Venous thromboembolism (VTE) is a frequent complication in the acute setting after spinal cord injury (SCI). Less is known about the long-term risk of VTE in these patients. It was the aim of this study to prospectively evaluate the short- and long-term risk of VTE in a cohort of patients after acute SCI and during rehabilitation and post-rehabilitation follow-up period. From January 2003 to November 2007 all consecutive adult patients admitted to a Spinal Rehabilitation Unit (RU) after surgical treatment in three Neurosurgical Units for SCI, were enrolled. After an accurate evaluation of their neurosurgical medical records the patients were prospectively evaluated for VTE occurrence. Ninety-four patients (80 males; mean age 40.3 years, SD 15.9) were recruited. All the patients received thromboprophylaxis with low-molecular-weight heparin combined with compressive stockings during hospitalization (median duration 7 months, IQR 4.5-8.8). Over a median follow-up period of 36.3 months (IQR 4.4-48) after SCI, VTE was diagnosed in 22 patients (23.4%) The majority of VTE events were recorded during the first three months of follow-up (34.4 VTE events/100 patient-years in the first 3 months and 0.3 VTE events/100 patient-years thereafter); age over 45 years (HR 8.4, 95% CI 3-23.5), previous VTE (HR 6.0, 95% CI 1.6-23.3) and paraplegia (HR 4.7, 95% CI 1.6-13.7) were independently associated with the occurrence of VTE. In conclusion, the risk of VTE in patients suffering from SCI is high despite the use of thromboprophylaxis, in particular in some patients categories. However, this risk appears to be limited to the first 3 months after the index event. PMID:23223906

  15. Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

    PubMed

    Lamari, F; Mochel, F; Sedel, F; Saudubray, J M

    2013-05-01

    We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are diverse but can be divided into (1) diseases of the central nervous system; (2) peripheral neuropathies; and (3) muscular/cardiac presentations. (1) Leukodystrophy and/or iron deposits in basal ganglia is a common feature of phospholipase A2 deficiency, fatty acid hydroxylase deficiency, and pantothenate kinase-associated neurodegeneration. Infantile epilepsy has been reported in GM3 synthetase deficiency. Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase deficiency. Spastic paraplegia and muscle wasting are also seen in patients with mutations in the neuropathy target esterase gene. (2) Peripheral neuropathy is a prominent feature in PHARC syndrome due to ?/?-hydrolase 12 deficiency, and in hereditary sensory autonomic neuropathy type I due to serine palmitoyl-CoA transferase deficiency. (3) Muscular/cardiac presentations include recurrent myoglobinuria in phosphatidate phosphatase 1 (Lipin1) deficiency; cardiomyopathy and multivisceral involvement in Barth syndrome secondary to tafazzin mutations; congenital muscular dystrophy due to choline kinase deficiency, Sengers syndrome due to acylglycerol kinase deficiency and Chanarin Dorfman syndrome due to ?/?- hydrolase 5 deficiency. These synthesis defects of complex lipid molecules stand at the frontier between classical inborn errors of metabolism and other genetic diseases involving the metabolism of structural proteins. PMID:22814679

  16. Outcome of Carotid Endarterectomy after Regional Anesthesia versus General Anesthesia - A Retrospective Study Using Two Independent Databases

    PubMed Central

    Liu, Jiabin; Martinez-Wilson, Hecter; Neuman, Mark D.; Elkassabany, Nabil; Ochroch, Edward Andrew

    2015-01-01

    Background Carotid endarterectomy (CEA) is effective in reducing stroke risk in selected patient groups. The ideal anesthetic technique remains controversial in light of literature between general anesthesia (GA) and regional anesthesia (RA) for CEA. Methods We studied the NSQIP data from 2005 to 2012. There were 32,718 patients receiving general anesthesia (GA) and 5,384 patients receiving regional anesthesia, local anesthesia, or monitored anesthesia care (RA). The outcome measurements of 30 days postoperative complications were death, stroke, coma, unplanned intubation, on ventilator > 48 hours, cardiac arrest, and myocardial infarction. We next studied NY-SID data from 2007 to 2011. There were 13,913 patients receiving GA and 3,145 patients receiving RA. The outcome measurements by discharge time were death, stroke, paraplegia, new neurological disorder, aspiration, respiratory failure, pulmonary resuscitation procedure (include intubation), cardiac arrest, cardiac resuscitation procedure, myocardial infarction, and congestive heart failure. All analyses were risk adjusted with propensity score matching algorithm. Results There were significant differences in incidences of un-expected intubation (1.21% vs. 0.55%, P=0.001), and myocardial infarction (0.80% vs. 0.35%, P=0.039) between GA and RA respectively in NSQIP data. GA group had significant higher incidences of aspiration (0.61% vs. 0.19%, P=0.014), and pulmonary resuscitation procedure (including intubation) (1.02% vs. 0.54%, P=0.044) than RA group in NY-SID data. Conclusions In comparison to GA, patients receiving RA had significant lower risks of postoperative unplanned intubation and/or pulmonary resuscitation procedure after carotid endarterectomy. PMID:26023678

  17. Changes in traditional chronic disease risk factors over time and their relationship with leisure-time physical activity in people living with spinal cord injury.

    PubMed

    Buchholz, Andrea C; Horrocks, Julie; Martin Ginis, Kathleen A; Bray, Steven R; Craven, B Catharine; Hicks, Audrey L; Hayes, Keith C; Latimer, Amy E; McColl, Mary Ann; Potter, Patrick J; Smith, Karen; Wolfe, Dalton L

    2012-12-01

    This study examined whether levels of chronic disease risk factors change over time, and whether leisure-time physical activity (LTPA) can explain any of the variation in those risk factors that change, in a sample of community-dwelling people living with spinal cord injury (SCI) in or near Hamilton, Ontario, Canada. LTPA was measured using the Physical Activity Recall Assessment for People with SCI at baseline (n = 76 adults with chronic (?1 year) paraplegia or tetraplegia), at 6 months (n = 71) and at 18 months (n = 63). Body mass index, waist circumference at the lowest rib (WC(lowest rib)) and iliac crest (WC(iliac crest)), fat mass, blood pressure, and biochemical data were collected at all 3 time points. Women's BMI was higher at baseline (least square means (LSM) = 26.2 ± SE = 1.56 kg·m(-2), p = 0.0004) and 6 months (25.9 ± 1.6, p = 0.0024) than at 18 months (22.1 ± 1.72). Men's WC(lowest rib) increased from baseline (92.1 ± 1.87 cm) to 18 months (93.6 ± 1.87, p = 0.0253). Women who were active vs. inactive at baseline had a lower BMI at 6 months (23.1 ± 2.91 vs. 29.7 ± 2.52, p = 0.0957) and WC(iliac crest) at 6 months (82.8 ± 6.59 vs. 97.7 ± 5.10, p = 0.0818). Women who were active vs. inactive at 6 months had a lower WC(iliac crest) at 18 months (73.4 ± 14.3 vs. 102.5 ± 6.41, p = 0.0723). There was little change in traditional risk factors over 18 months. Future studies should extend beyond 18 months in a larger sample, and explore traditional vs. novel risk factors and onset of cardiovascular disease and diabetes in the SCI population. PMID:22924761

  18. The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

    PubMed

    Garcia-Cazorla, Àngels; Mochel, Fanny; Lamari, Foudil; Saudubray, Jean-Marie

    2015-01-01

    Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it appears that all organs and systems may be affected. The main clinical presentations can be divided into (1) Diseases affecting the central and peripheral nervous system. Complex lipid synthesis disorders produce prominent motor manifestations due to upper and/or lower motoneuron degeneration. Motor signs are often complex, associated with other neurological and extra-neurological signs. Three neurological phenotypes, spastic paraparesis, neurodegeneration with brain iron accumulation and peripheral neuropathies, deserve special attention. Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental overgrowth disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations. Lipidomics and molecular functional studies could help to elucidate the mechanism(s) of dominant versus recessive inheritance observed for the same gene in a growing number of these disorders. PMID:25413954

  19. Cholecalciferol (Vitamin D3) Improves Myelination and Recovery after Nerve Injury

    PubMed Central

    Chabas, Jean-Francois; Stephan, Delphine; Marqueste, Tanguy; Garcia, Stephane; Lavaut, Marie-Noelle; Nguyen, Catherine; Legre, Regis; Khrestchatisky, Michel

    2013-01-01

    Previously, we demonstrated i) that ergocalciferol (vitamin D2) increases axon diameter and potentiates nerve regeneration in a rat model of transected peripheral nerve and ii) that cholecalciferol (vitamin D3) improves breathing and hyper-reflexia in a rat model of paraplegia. However, before bringing this molecule to the clinic, it was of prime importance i) to assess which form – ergocalciferol versus cholecalciferol – and which dose were the most efficient and ii) to identify the molecular pathways activated by this pleiotropic molecule. The rat left peroneal nerve was cut out on a length of 10 mm and autografted in an inverted position. Animals were treated with either cholecalciferol or ergocalciferol, at the dose of 100 or 500 IU/kg/day, or excipient (Vehicle), and compared to unlesioned rats (Control). Functional recovery of hindlimb was measured weekly, during 12 weeks, using the peroneal functional index. Ventilatory, motor and sensitive responses of the regenerated axons were recorded and histological analysis was performed. In parallel, to identify the genes regulated by vitamin D in dorsal root ganglia and/or Schwann cells, we performed an in vitro transcriptome study. We observed that cholecalciferol is more efficient than ergocalciferol and, when delivered at a high dose (500 IU/kg/day), cholecalciferol induces a significant locomotor and electrophysiological recovery. We also demonstrated that cholecalciferol increases i) the number of preserved or newly formed axons in the proximal end, ii) the mean axon diameter in the distal end, and iii) neurite myelination in both distal and proximal ends. Finally, we found a modified expression of several genes involved in axogenesis and myelination, after 24 hours of vitamin supplementation. Our study is the first to demonstrate that vitamin D acts on myelination via the activation of several myelin-associated genes. It paves the way for future randomised controlled clinical trials for peripheral nerve or spinal cord repair. PMID:23741446

  20. [100 years of the Babinski sign].

    PubMed

    Estañol Vidal, B; Huerta Díaz, E; García Ramos, G

    1997-01-01

    In 1896 Joseph Francois Felix Babinski described for the first time the phenomenon of the toes. In his first paper he simply described extension of all toes with noxious stimulation of the sole of the foot. It was not until 1898 that he specifically described the extension of the hallux with stimulation of the lateral border of the sole. Babinski was probably not aware at the time that E. Remak, a German physician, had previously described the sign. In his third paper of 1903 Babinski concludes that if other authors had described the abnormal reflex before him, they found it fortuitously and did not realize its semiologic value. Babinski probably discovered it by a combination of chance, careful observation and intuition. He also had in mind practical applications of the sign particularly in the differential diagnosis with hysteria and in medico-legal areas. Several of his observations and the physiopathological mechanism proposed by him are still valid today. He realized since 1896 that the Babinski reflex was part of the flexor reflex synergy. He observed that several patients during the first hours of an acute cerebral or spinal insult had absent extensor reflexes. He realized that most patients with the abnormal reflex had weakness of the toes and ankles. He found a lack of correlation between hyperactive myotatic reflexes and the presence of an upgoing hallux. He discovered that not all patients with hemiplegia or paraplegia had the sign. He thought erroneously that some normal subjects could have an upgoing toe. His dream of a practical application of the sign has been fully achieved. The motto of Babinski was Observatio summa lex. Perhaps there is no better dictum in clinical neurology. PMID:9380967

  1. Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets

    PubMed Central

    2010-01-01

    Background Spartin protein is involved in degradation of epidermal growth factor receptor and turnover of lipid droplets and a lack of expression of this protein is responsible for hereditary spastic paraplegia type 20 (SPG20). Spartin is a multifunctional protein that associates with many cellular organelles, including lipid droplets. Recent studies showed that spartin interacts with E3 ubiquitin ligases that belong to the neural precursor cell-expressed developmentally downregulated gene (Nedd4) family, including atrophin-1-interacting protein 4 (AIP4/ITCH). However, the biological importance of the spartin-AIP4 interaction remains unknown. Results In this study, we show that spartin is not a substrate for AIP4 activity and that spartin's binding to AIP4 significantly increases self-ubiquitination of this E3 ligase, indicating that spartin disrupts the AIP4 autoinhibitory intramolecular interaction. Correspondingly, spartin has a seven times higher binding affinity to the WW region of AIP4 than the binding of the WW region has to the catalytic homologues of the E6-associated protein C-terminus (HECT) domain, as measured by enzyme-linked immunosorbent assay. We also show that spartin recruits AIP4 to lipid droplets and promotes ubiquitination of lipid droplet-associated protein, adipophilin, which regulates turnover of lipid droplets. Conclusions Our findings demonstrate that spartin acts as an adaptor protein that activates and recruits AIP4 E3 ubiquitin ligase to lipid droplets and by this means regulates the level of ubiquitination of adipophilin and potentially other lipid-associated proteins. We propose that this is one of the mechanisms by which spartin regulates lipid droplet turnover and might contribute to the pathology of SPG20. PMID:20504295

  2. ?-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology*

    PubMed Central

    Ridley, Christina M.; Thur, Karen E.; Shanahan, Jessica; Thillaiappan, Nagendra Babu; Shen, Ann; Uhl, Karly; Walden, Charlotte M.; Rahim, Ahad A.; Waddington, Simon N.; Platt, Frances M.; van der Spoel, Aarnoud C.

    2013-01-01

    ?-Glucosidase 2 (GBA2) is an enzyme that cleaves the membrane lipid glucosylceramide into glucose and ceramide. The GBA2 gene is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia). Pharmacologically, GBA2 is reversibly inhibited by alkylated imino sugars that are in clinical use or are being developed for this purpose. We have addressed the ambiguity surrounding one of the defining characteristics of GBA2, which is its sensitivity to inhibition by conduritol B epoxide (CBE). We found that CBE inhibited GBA2, in vitro and in live cells, in a time-dependent fashion, which is typical for mechanism-based enzyme inactivators. Compared with the well characterized impact of CBE on the lysosomal glucosylceramide-degrading enzyme (glucocerebrosidase, GBA), CBE inactivated GBA2 less efficiently, due to a lower affinity for this enzyme (higher KI) and a lower rate of enzyme inactivation (kinact). In contrast to CBE, N-butyldeoxygalactonojirimycin exclusively inhibited GBA2. Accordingly, we propose to redefine GBA2 activity as the ?-glucosidase that is sensitive to inhibition by N-butyldeoxygalactonojirimycin. Revised as such, GBA2 activity 1) was optimal at pH 5.5–6.0; 2) accounted for a much higher proportion of detergent-independent membrane-associated ?-glucosidase activity; 3) was more variable among mouse tissues and neuroblastoma and monocyte cell lines; and 4) was more sensitive to inhibition by N-butyldeoxynojirimycin (miglustat, Zavesca®), in comparison with earlier studies. Our evaluation of GBA2 makes it possible to assess its activity more accurately, which will be helpful in analyzing its physiological roles and involvement in disease and in the pharmacological profiling of monosaccharide mimetics. PMID:23880767

  3. Progress in syringomyelia.

    PubMed

    Williams, B

    1986-09-01

    Syringomyelia management is showing some progressive improvements following surgical methods of investigation and treatment. Investigation of simultaneous pressure changes in the cerebrospinal fluid pathways has illustrated the importance of craniospinal pressure dissociation in impacting the cerebellar and medullary tissues in the foramen magnum in hindbrain related syringomyelia. Such pressure differences may be referred to as 'suck' and similar changes are to be found in non-hindbrain related forms of syringomyelia such as those associated with spinal arachnoiditis. When cavities have formed then impulsive movements may occur with them and enlargement of the cavities may be continued by sloshing of the fluid within them. Investigations have been improved following the widespread use of water soluble contrast media and CT scanning with reconstructions after myelography. A definite relationship between birth injury and hindbrain related syringomyelia has been established especially with cases showing arachnoiditis. The nature of the relationship to hindbrain hernia and basilar invagination remains unclear. Magnetic resonance imaging holds great promise particularly in showing hindbrain deformation in new-born babies, showing whether or not a communication commonly exists between the fourth ventricle and the cavities within the spinal cord in early childhood and also in outlining the changes in the spinal cord in the presence of acute traumatic paraplegia. Treatment still relies upon valved ventricular to extrathecal shunts for hydrocephalus, cranio-vertebral decompression to prevent suck and drainage of the syrinx in appropriate cases. Syrinx to extrathecal shunting may be preferred to shunts to the subarachnoid space. The peritoneum and the pleura are favoured sites and a valve is not necessary. The advances for the future may depend on earlier diagnosis and greater understanding of the mechanisms of pathogenesis in which MRI seems likely to play an increasingly important part. PMID:2877406

  4. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

    PubMed

    Harlalka, Gaurav V; Lehman, Anna; Chioza, Barry; Baple, Emma L; Maroofian, Reza; Cross, Harold; Sreekantan-Nair, Ajith; Priestman, David A; Al-Turki, Saeed; McEntagart, Meriel E; Proukakis, Christos; Royle, Louise; Kozak, Radoslaw P; Bastaki, Laila; Patton, Michael; Wagner, Karin; Coblentz, Roselyn; Price, Joy; Mezei, Michelle; Schlade-Bartusiak, Kamilla; Platt, Frances M; Hurles, Matthew E; Crosby, Andrew H

    2013-12-01

    Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the lysosomal storage diseases. Although many glycosphingolipid catabolic defects have been defined, only one proven inherited disease arising from a defect in ganglioside biosynthesis is known. This disease, because of defects in the first step of ganglioside biosynthesis (GM3 synthase), results in a severe epileptic disorder found at high frequency amongst the Old Order Amish. Here we investigated an unusual neurodegenerative phenotype, most commonly classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Our genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype. Biochemical profiling of glycosphingolipid biosynthesis confirmed a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3, a finding that will greatly facilitate diagnosis of this condition. With the description of two neurological human diseases involving defects in two sequentially acting enzymes in ganglioside biosynthesis, there is the real possibility that a previously unidentified family of ganglioside deficiency diseases exist. The study of patients and animal models of these disorders will pave the way for a greater understanding of the role gangliosides play in neuronal structure and function and provide insights into the development of effective treatment therapies. PMID:24103911

  5. Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

    PubMed Central

    Nissen, Peter H.; Agerholm, Jørgen S.; Bendixen, Christian

    2009-01-01

    Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle (Bos taurus) characterized by pathological changes of the myelin sheaths in the spinal cord. The occurrence of BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several European cattle breeds upgraded with ABS. Here, we show that the disease locus on bovine chromosome 11 harbors the SPAST gene that, when mutated, is responsible for the human disorder hereditary spastic paraplegia (HSP). Initially, SPAST encoding Spastin was considered a less likely candidate gene for BSD since the modes of inheritance as well as the time of onset and severity of symptoms differ widely between HSP and BSD. However, sequence analysis of the bovine SPAST gene in affected animals identified a R560Q substitution at a position in the ATPase domain of the Spastin protein that is invariant from insects to mammals. Interestingly, three different mutations in human SPAST gene at the equivalent position are known to cause HSP. To explore this observation further, we genotyped more than 3,100 animals of various cattle breeds and found that the glutamine allele exclusively occurred in breeds upgraded with ABS. Furthermore, all confirmed BSD carriers were heterozygous, while all affected calves were homozygous for the glutamine allele consistent with recessive transmission of the underlying mutation and complete penetrance in the homozygous state. Subsequent analysis of recombinant Spastin in vitro showed that the R560Q substitution severely impaired the ATPase activity, demonstrating a causal relationship between the SPAST mutation and BSD. PMID:19714378

  6. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

    PubMed Central

    Lehman, Anna; Chioza, Barry; Baple, Emma L.; Maroofian, Reza; Cross, Harold; Sreekantan-Nair, Ajith; Priestman, David A.; Al-Turki, Saeed; McEntagart, Meriel E.; Proukakis, Christos; Royle, Louise; Kozak, Radoslaw P.; Bastaki, Laila; Patton, Michael; Wagner, Karin; Coblentz, Roselyn; Price, Joy; Mezei, Michelle; Schlade-Bartusiak, Kamilla; Hurles, Matthew E.

    2013-01-01

    Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the lysosomal storage diseases. Although many glycosphingolipid catabolic defects have been defined, only one proven inherited disease arising from a defect in ganglioside biosynthesis is known. This disease, because of defects in the first step of ganglioside biosynthesis (GM3 synthase), results in a severe epileptic disorder found at high frequency amongst the Old Order Amish. Here we investigated an unusual neurodegenerative phenotype, most commonly classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Our genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype. Biochemical profiling of glycosphingolipid biosynthesis confirmed a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3, a finding that will greatly facilitate diagnosis of this condition. With the description of two neurological human diseases involving defects in two sequentially acting enzymes in ganglioside biosynthesis, there is the real possibility that a previously unidentified family of ganglioside deficiency diseases exist. The study of patients and animal models of these disorders will pave the way for a greater understanding of the role gangliosides play in neuronal structure and function and provide insights into the development of effective treatment therapies. PMID:24103911

  7. MRI as a tool to study brain structure from mouse models for mental retardation

    NASA Astrophysics Data System (ADS)

    Verhoye, Marleen; Sijbers, Jan; Kooy, R. F.; Reyniers, E.; Fransen, E.; Oostra, B. A.; Willems, Peter; Van der Linden, Anne-Marie

    1998-07-01

    Nowadays, transgenic mice are a common tool to study brain abnormalities in neurological disorders. These studies usually rely on neuropathological examinations, which have a number of drawbacks, including the risk of artefacts introduced by fixation and dehydration procedures. Here we present 3D Fast Spin Echo Magnetic Resonance Imaging (MRI) in combination with 2D and 3D segmentation techniques as a powerful tool to study brain anatomy. We set up MRI of the brain in mouse models for the fragile X syndrome (FMR1 knockout) and Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus (CRASH) syndrome (L1CAM knockout). Our major goal was to determine qualitative and quantitative differences in specific brain structures. MRI of the brain of fragile X and CRASH patients has revealed alterations in the size of specific brain structures, including the cerebellar vermis and the ventricular system. In the present MRI study of the brain from fragile X knockout mice, we have measured the size of the brain, cerebellum and 4th ventricle, which were reported as abnormal in human fragile X patients, but found no evidence for altered brain regions in the mouse model. In CRASH syndrome, the most specific brain abnormalities are vermis hypoplasia and abnormalities of the ventricular system with some degree of hydrocephalus. With the MRI study of L1CAM knockout mice we found vermis hypoplasia, abnormalities of the ventricular system including dilatation of the lateral and the 4th ventricles. These subtle abnormalities were not detected upon standard neuropathological examination. Here we proved that this sensitive MRI technique allows to measure small differences which can not always be detected by means of pathology.

  8. Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPAR?.

    PubMed

    Zhou, Libin; Yin, Jun; Wang, Conghui; Liao, Jiawei; Liu, George; Chen, Ling

    2014-08-01

    The Seipin gene was originally found to be responsible for type 2 congenital lipodystrophy and involved in lipid droplet formation. Seipin is highly expressed in the central nervous system as well. Seipin mutations have been identified in motor neuron diseases such as Silver syndrome and spastic paraplegia. In this study, we generated neuron-specific seipin knockout mice (seipin-nKO) to investigate the influence of seipin deficiency on locomotion and affective behaviors. In comparison with control mice, 8-week-old male seipin-nKO mice, but not female mice, displayed anxiety- and depression-like behaviors as assessed by open-field, elevated plus-maze, forced swim and tail suspension tests. However, neither male nor female seipin-nKO mice showed locomotion deficits in swimming tank and rotarod tests. Interestingly, the mRNA and protein levels of peroxisome proliferator-activated receptor gamma (PPAR?) in the hippocampus and cortex were lower in male seipin-nKO mice, but not female mice, than controls. In seipin-nKO mice, plasma levels of sex hormones including 17?-estradiol (E2) in females and testosterone in males as well as corticosterone were not altered compared with controls. The treatment of male seipin-nKO mice with E2 ameliorated the anxiety- and depression-like behaviors and remarkably increased PPAR? levels. The PPAR? agonist rosiglitazone alleviated affective disorders in male seipin-nKO mice. Notably, anxiety- and depression-like behaviors appeared in female seipin-nKO mice after ovariectomy, which was associated with low PPAR? expression. Collectively, these results indicate that neuronal seipin deficiency causing reduced PPAR? levels leads to affective disorders in male mice that are rescued by E2-increased PPAR? expression. PMID:24651066

  9. Depression and Anxiety in Adolescents With Pediatric-Onset Spinal Cord Injury

    PubMed Central

    Klaas, Sara J.

    2014-01-01

    Background: Little is known about depression and anxiety in adolescents with spinal cord injury (SCI). Objective: To examine how depression, anxiety, suicidal ideation, and usage of treatment differ by age and sex among adolescents with SCI. Method: Youth 12 to 18 years old who had acquired SCI at least 1 year prior were recruited from 3 specialty hospitals. They completed the Children’s Depression Inventory (ages 12-17 years) or Beck Depression Inventory-II (18 years), and Revised Children’s Manifest Anxiety Scale (12-18 years). Analyses assessed differences between younger and older adolescents and between males and females. Results: The 236 participants were an average age of 15.58 years (SD 1.98), 58% were male, and 60% Caucasian. Average age at injury was 10.57 years (SD 5.50), and 62% had paraplegia. For depression, 5.5% of adolescents ages 12 to 17 years exceeded the clinical cutoff and 12.7% of 18-year-old adolescents fell into a range of moderate or severe depression. For anxiety, 10.6% of adolescents ages 12 to 18 years exceeded the clinical cutoff. Univariate results revealed that older adolescents were more depressed than younger adolescents, and girls were more anxious than boys. An interaction between sex and age emerged, in that older adolescent girls were significantly more anxious than other youth. Older adolescents were also more likely to be taking medications for emotional, psychological, or behavioral reasons. Reports of suicidal ideation did not differ by adolescent age or sex. Conclusion: For these adolescents, depression differed with age, and anxiety differed based on age and sex. Implications for intervention include early identification and treatment for struggling adolescents. PMID:24574818

  10. The kinesin-3, unc-104 regulates dendrite morphogenesis and synaptic development in Drosophila.

    PubMed

    Kern, Jeannine V; Zhang, Yao V; Kramer, Stella; Brenman, Jay E; Rasse, Tobias M

    2013-09-01

    Kinesin-based transport is important for synaptogenesis, neuroplasticity, and maintaining synaptic function. In an anatomical screen of neurodevelopmental mutants, we identified the exchange of a conserved residue (R561H) in the forkhead-associated domain of the kinesin-3 family member Unc-104/KIF1A as the genetic cause for defects in synaptic terminal- and dendrite morphogenesis. Previous structure-based analysis suggested that the corresponding residue in KIF1A might be involved in stabilizing the activated state of kinesin-3 dimers. Herein we provide the first in vivo evidence for the functional importance of R561. The R561H allele (unc-104(bris)) is not embryonic lethal, which allowed us to investigate consequences of disturbed Unc-104 function on postembryonic synapse development and larval behavior. We demonstrate that Unc-104 regulates the reliable apposition of active zones and postsynaptic densities, possibly by controlling site-specific delivery of its cargo. Next, we identified a role for Unc-104 in restraining neuromuscular junction growth and coordinating dendrite branch morphogenesis, suggesting that Unc-104 is also involved in dendritic transport. Mutations in KIF1A/unc-104 have been associated with hereditary spastic paraplegia and hereditary sensory and autonomic neuropathy type 2. However, we did not observe synapse retraction or dystonic posterior paralysis. Overall, our study demonstrates the specificity of defects caused by selective impairments of distinct molecular motors and highlights the critical importance of Unc-104 for the maturation of neuronal structures during embryonic development, larval synaptic terminal outgrowth, and dendrite morphogenesis. PMID:23770702

  11. Protective and risk factors in amateur equestrians and description of injury patterns: A retrospective data analysis and a case - control survey

    PubMed Central

    2011-01-01

    Background In Switzerland there are about 150,000 equestrians. Horse related injuries, including head and spinal injuries, are frequently treated at our level I trauma centre. Objectives To analyse injury patterns, protective factors, and risk factors related to horse riding, and to define groups of safer riders and those at greater risk Methods We present a retrospective and a case-control survey at conducted a tertiary trauma centre in Bern, Switzerland. Injured equestrians from July 2000 - June 2006 were retrospectively classified by injury pattern and neurological symptoms. Injured equestrians from July-December 2008 were prospectively collected using a questionnaire with 17 variables. The same questionnaire was applied in non-injured controls. Multiple logistic regression was performed, and combined risk factors were calculated using inference trees. Results Retrospective survey A total of 528 injuries occured in 365 patients. The injury pattern revealed as follows: extremities (32%: upper 17%, lower 15%), head (24%), spine (14%), thorax (9%), face (9%), pelvis (7%) and abdomen (2%). Two injuries were fatal. One case resulted in quadriplegia, one in paraplegia. Case-control survey 61 patients and 102 controls (patients: 72% female, 28% male; controls: 63% female, 37% male) were included. Falls were most frequent (65%), followed by horse kicks (19%) and horse bites (2%). Variables statistically significant for the controls were: Older age (p = 0.015), male gender (p = 0.04) and holding a diploma in horse riding (p = 0.004). Inference trees revealed typical groups less and more likely to suffer injury. Conclusions Experience with riding and having passed a diploma in horse riding seem to be protective factors. Educational levels and injury risk should be graded within an educational level-injury risk index. PMID:21294862

  12. Paragliding accidents in remote areas.

    PubMed

    Fasching, G; Schippinger, G; Pretscher, R

    1997-08-01

    Paragliding is an increasingly popular hobby, as people try to find new and more adventurous activities. However, there is an increased and inherent danger with this sport. For this reason, as well as the inexperience of many operators, injuries occur frequently. This retrospective study centers on the helicopter rescue of 70 individuals in paragliding accidents. All histories were examined, and 43 patients answered a questionnaire. Nineteen (42%) pilots were injured when taking off, 20 (44%) during the flight, and six (13%) when landing. Routine and experience did not affect the prevalence of accident. Analysis of the causes of accident revealed pilot errors in all but three cases. In 34 rescue operations a landing of the helicopter near the site of the accident was possible. Half of the patients had to be rescued by a cable winch or a long rope fixed to the helicopter. Seven (10%) of the pilots suffered multiple trauma, 38 (54%) had injuries of the lower extremities, and 32 (84%) of them sustained fractures. Injuries to the spine were diagnosed in 34 cases with a fracture rate of 85%. One patient had an incomplete paraplegia. Injuries to the head occurred in 17 patients. No paraglider pilot died. The average hospitalization was 22 days, and average time of working inability was 14 weeks. Fourteen (34%) patients suffered from a permanent damage to their nerves or joints. Forty-three percent of the paragliders continued their sport despite the accident; two of them had another accident. An improved training program is necessary to lower the incidence of paragliding accidents. Optimal equipment to reduce injuries in case of accidents is mandatory. The helicopter emergency physician must perform a careful examination, provide stabilization of airways and circulation, give analgesics, splint fractured extremities, and transport the victim on a vacuum mattress to the appropriate hospital. PMID:11990151

  13. Endovascular repair of thoracic aortic pathologies: postoperative nursing implications.

    PubMed

    Chen, Tanghua; Crozier, John A

    2014-06-01

    Endovascular stent grafting is increasingly used to manage descending thoracic aortic pathologies. The procedure was introduced at the study hospital in 2001. We sought to examine the short-term clinical outcomes of patients who underwent this endovascular stent grafting, with the aim of using the result as baseline for development of an in-center clinical management protocol. We undertook a single-center, retrospective review of health care records of patients managed with thoracic stent grafts from 2001 to 2009. Patient characteristics, in-hospital data, and procedural data were obtained. SPSS was used to analyze the data. A total of 30 patients were treated with thoracic stent; 23 were male, 7 were female, and the mean age was 55.0. Aortic pathologies treated were traumatic aortic dissection/transection (n = 15), acute/chronic aortic dissection (n = 9), and degenerative aneurysms (n = 6). Endoleak occurred in 3 patients, with 1 requiring further endograft repair. Two patients underwent combined open and endovascular repair of acute thoracic aortic dissection; 1 died 4 days after the procedure, and the other developed stroke and acute renal failure not requiring dialysis. Of the 28 patients who underwent endovascular repair, paraplegia and paraparesis occurred in 2 patients but resolved with cerebrospinal fluid drainage. Stroke occurred in 1 patient. Patients who underwent combined procedure of open and endovascular repair of thoracic aortic dissection had a greater risk of developing major adverse events than patients who underwent endovascular repair alone (Fisher's exact test P = .023). There was no association between the risk of stroke and the coverage of left subclavian artery in this series (P = .483). Graft stenting treatment for descending thoracic aortic pathologies has been shown to result in high in-hospital survival rates. It is essential for nurses who work in acute care settings to have knowledge of this procedure and potential complications associated with the procedure to enable postoperative assessment and immediate action if any deviation is observed. PMID:24944173

  14. Surgical Correction of Fixed Kyphosis

    PubMed Central

    Cho, Woo-Jin; Kang, Chang-Nam; Park, Ye-Soo; Kim, Hyoung-Jin

    2007-01-01

    Study Design A retrospective review was carried out on 23 patients with rigid fixed kyphosis who underwent surgical correction for their deformity. Purpose To report the results of surgical correction of fixed kyphosis according to the surgical approaches or methods. Overview of Literature Surgical correction of fixed kyphosis is more dangerous than the correction of any other spinal deformity because of the high incidence of paraplegia. Methods There were 12 cases of acute angular kyphosis (6 congenital, 6 healed tuberculosis) and 11 cases of round kyphosis (10 ankylosing spondylitis, 1 Scheuermann's kyphosis). Patients were excluded if their kyphosis was due to active tuberculosis, fractures, or degenerative lumbar changes. Operative procedures consisted of anterior, posterior and combined approaches with or without total vertebrectomy. Anterior procedure only was performed in 2 cases, while posterior procedure only was performed in 8 cases. Combined procedures were used in 13 cases, including 4 total vertebrectomies. Results The average kyphotic angle was 71.8° preoperatively, 31.0° postoperatively, and the average final angle was 39.2°. Thus, the correction rate was 57% and the correction loss rate was 12%. In acute angular kyphosis, correction rate of an anterior procedure only was 71%, correction rate of the combined procedures without total vertebrectomy was 49% and correction rate of the combined procedures with total vertebrectomy was 60%. In round kyphosis, correction rate of posterior procedure only was 65% and correction rate of combined procedures was 59%. The clinical results according to the Kirkaldy-Willis scale demonstrated 17 excellent outcomes, 5 good outcomes and one poor outcome. Conclusions Our data indicates that the combined approach and especially the total vertebrectomy showed the safety and the greatest correction rate if acute angular kyphosis was greater than 60 degrees. PMID:20411147

  15. Estimating the willingness to pay for a quality-adjusted life year in Thailand: does the context of health gain matter?

    PubMed Central

    Thavorncharoensap, Montarat; Teerawattananon, Yot; Natanant, Sirin; Kulpeng, Wantanee; Yothasamut, Jomkwan; Werayingyong, Pitsaphun

    2013-01-01

    Background This study aims to elicit the value of the willingness to pay (WTP) for a quality-adjusted life year (QALY) and to examine the factors associated with the WTP for a QALY (WTP/QALY) value under the Thai health care setting. Methods A community-based survey was conducted among 1191 randomly selected respondents. Each respondent was interviewed face-to-face to elicit his/her health state preference in each of three pairs of health conditions: (1) unilateral and bilateral blindness, (2) paraplegia and quadriplegia, and (3) mild and moderate allergies. A visual analog scale (VAS) and time trade off (TTO) were used as the eliciting methods. Subsequently, the respondents were asked about their WTP for the treatment and prevention of each pair of health conditions by using a bidding-game technique. Results With regards to treatment, the mean WTP for a QALY value (WTP/QALYtreatment) estimated by the TTO method ranged from 59,000 to 285,000 baht (16.49 baht = US$1 purchasing power parity [PPP]). In contrast, the mean WTP for a QALY value in terms of prevention (WTP/QALYprevention) was significantly lower, ranging from 26,000 to 137,000 baht. Gender, household income, and hypothetical scenarios were also significant factors associated with the WTP/QALY values. Conclusion The WTP/QALY values elicited in this study were approximately 0.4 to 2 times Thailand’s 2008 GDP per capita. These values were in line with previous studies conducted in several different settings. This study’s findings clearly support the opinion that a single ceiling threshold should not be used for the resource allocation of all types of interventions. PMID:23345984

  16. Comparison of health-related quality of life in three subgroups of spinal cord injury patients.

    PubMed

    Kannisto, M; Merikanto, J; Alaranta, H; Hokkanen, H; Sintonen, H

    1998-03-01

    Health-related quality of life (HRQL) was evaluated in three subgroups of spinal cord injury (SCI) patients: (1) persons who had sustained a pediatric SCI (mean time from injury 20 years, age at injury 11.3 years, n = 36), (2) newly injured patients at the beginning of acute rehabilitation (mean age 35.3 years, n = 31), and (3) patients with a chronic SCI (mean time from injury 4.8 years, mean age at injury 35.2 years, n = 34). All the patients were clinically examined and structurally interviewed with a list of questions dealing with details of anamnestic information about injury, its treatment, possible complications and persons past and present psycho-social condition. HRQL was assessed by a generic fifteen-dimensional self-administered instrument (15D). The relative importance of the 15D dimensions and an overall judgement of health status were measured by a 0-100 visual analogue scale. Average importance weights of the dimensions of moving and working differed significantly in the three subgroups. Patients with pediatric SCI assigned the lowest importance for moving. The newly injured patients highly valued working capability. The HRQL scores of the patients who had sustained their injury in childhood were significantly higher than those of the newly injured patients or chronic patients. The tetraplegic patients estimated their HRQL significantly lower than patients with incomplete paraplegia. Of the three subgroups studied, those with pediatric SCI were well adjusted on the basis of anamnestic information and scored high on HRQL when compared with the other two subgroups. Patients injured in adulthood rated their overall HRQL lower and were often unable to return to work. Patients injured in childhood expressed better performance in physical functions than patients who had sustained their injury in adulthood. The subgroups did not differ in psychological functions. PMID:9554021

  17. [A case of meningeal carcinomatosis showing myelopathy--detection of TNF-alpha in infiltrating CSF cells and brain tissue sections of cerebellum].

    PubMed

    Nakamura, S; Kogure, K

    1993-02-01

    A 41-year-old woman had radical mastectomy for breast cancer with metastasis of axial lymph nodes three years previously. In February 1990, she noticed swelling of lymph nodes in right suparclavicular region. A lymph node biopsy revealed cancer cells. Immediately, radiation therapy was performed. However, in August serum levels of CA 15-3 and LDH were markedly elevated. Two months later the patient complained of severe headache, dysarthria, shoulder pain and anorexia. Neurological examination revealed stiff neck, weakness of bilateral facial muscles, deviation of tongue to the left and no sensory disturbance. A CSF sample by lumbar puncture showed 26/mm3 in cell counts, 204 mg/dl of protein and 11 mg/dl of glucose. In addition, CSF cytology revealed malignant cells four to five times as large as lymphocytes. Immediately, and intrathecal administration of methotrexate (MTX) was started. However, one week later she developed complete paraplegia with sensory disturbance below the L1 levels and an incontinentia urine. CSF examination performed again, and showed 97/mm3 in cell counts, 792 mg/dl of protein and 91 mg/dl of glucose. On October 10, a CT scan of the head showed contrast enhancement along cerebellar folia and narrowing of quadrigeminal cistern. On November 31, sagittal T1W1 with Gadolinium revealed an enhancing stripes along the spinal cord at the Th10 to L4 levels. This finding was suggested to be meningeal carcinomatosis. On December 8, she died. At autopsy, brownish hemorrhagic mass was noticed in the bilateral cerebellar tonsils, and severe downward displacement of the tonsils.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8319390

  18. Racial and Ethnic Disparities in Functioning at Discharge and Follow-Up Among Patients With Motor Complete Spinal Cord Injury

    PubMed Central

    Fyffe, Denise C.; Deutsch, Anne; Botticello, Amanda L.; Kirshblum, Steven; Ottenbacher, Kenneth J.

    2015-01-01

    Objective To examine racial and ethnic differences in self-care and mobility outcomes for persons with a motor complete, traumatic spinal cord injury (SCI) at discharge and 1-year follow-up. Design Retrospective cohort study. Setting Sixteen rehabilitation centers contributing to the Spinal Cord Injury Model Systems (SCIMS) database. Participants Adults with traumatic, motor complete SCI (N=1766; American Spinal Injury Association Impairment Scale grade A or B) enrolled in the SCIMS between 2000 and 2011. Selected cases had complete self-reported data on race and ethnicity (non-Hispanic white, non-Hispanic black, or Hispanic) and motor FIM scores assessed at inpatient rehabilitation admission, discharge, and 1-year follow-up. Interventions Not applicable. Main Outcome Measures Functional outcomes were measured by FIM self-care and mobility scores on a 1 to 7 FIM scale, at discharge and 1-year follow-up. Results Multiple regression models stratified by neurologic category and adjusted for sociodemographic and injury characteristics assessed racial and ethnic group differences in FIM self-care and mobility change scores at discharge and 1-year follow-up. At discharge, non-Hispanic black participants with tetraplegia and paraplegia had significantly poorer gains in FIM self-care and mobility scores relative to non-Hispanic white and Hispanic participants. At 1-year follow-up, similar FIM self-care and mobility change scores were found across racial and ethnic groups within each neurologic category. Conclusions Non-Hispanic white and Hispanic participants had comparatively more improvement in self-care and mobility during inpatient rehabilitation compared with non-Hispanic black participants. At 1-year follow-up, no differences in self-care and mobility outcomes were observed across racial and ethnic groups. Additional research is needed to identify potential modifiable factors that may contribute to racially and ethnically different patterns of functional outcomes observed during inpatient rehabilitation. PMID:25093999

  19. The diameters and number of nerve fibers in spinal nerve roots.

    PubMed

    Liu, YongTao; Zhou, XiaoJi; Ma, Jun; Ge, YingBin; Cao, Xiaojian

    2015-07-01

    Objective To investigate the anatomical and histological features of spinal nerve roots and provide base data for neuroanastomosis therapy for paraplegia. Methods Spinal nerve roots from C1 to S5 were exposed on six adult cadavers. The diameter and the number of nerve fibers of each nerve root were measured, respectively, with a caliper and image analysis software. Results As for ventral roots, the diameter of C5 (2.50 ± 0.55 mm) was the largest in cervical segments. In thoracic and lumbosacral segments, the diameter gradually increased from T11 to S1 and then decreased from S1 to S5 except L3. S1 (1.43 ± 0.16 mm) was the thickest root and S5 (0.14 ± 0.02 mm) was the thinnest one. As for dorsal roots, the diameter of C7 (4.61 ± 0.87 mm) was the largest in cervical segments. From T11 to S1, the diameter increased and then decreased gradually from S1 to S5. The diameter of dorsal roots from T1 to S5 was largest at S1 (2.95 ± 0.57 mm) and smallest at S5 (0.27 ± 0.13 mm), respectively. C7 (8467 ± 1019), T12 (6538 ± 892), L3 (9169 ± 1160), and S1 (8253 ± 1419) ventral roots contained the most nerve fibers in cervical, thoracic, lumbar, and sacral segments, respectively. Similarly, C7 (39 653 ± 8458), T1 (26 507 ± 7617), L5 (34 455 ± 2740), and S1 (41 543 ± 3036) dorsal roots, respectively, contained the most nerve fibers in their corresponding segments. Conclusion The findings in the current study provided the imperative data and may be valuable for spinal nerve root microanastomosis surgery in the paraplegic patients. PMID:24605949

  20. Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons

    PubMed Central

    Havlicek, Steven; Kohl, Zacharias; Mishra, Himanshu K.; Prots, Iryna; Eberhardt, Esther; Denguir, Naime; Wend, Holger; Plötz, Sonja; Boyer, Leah; Marchetto, Maria C.N.; Aigner, Stefan; Sticht, Heinrich; Groemer, Teja W.; Hehr, Ute; Lampert, Angelika; Schlötzer-Schrehardt, Ursula; Winkler, Jürgen; Gage, Fred H.; Winner, Beate

    2014-01-01

    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of motorneuron diseases characterized by progressive spasticity and paresis of the lower limbs. Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP. To understand how mutations in SPG4 affect human neurons, we generated human induced pluripotent stem cells (hiPSCs) from fibroblasts of two patients carrying a c.1684C>T nonsense mutation and from two controls. These SPG4 and control hiPSCs were able to differentiate into neurons and glia at comparable efficiency. All known spastin isoforms were reduced in SPG4 neuronal cells. The complexity of SPG4 neurites was decreased, which was paralleled by an imbalance of axonal transport with less retrograde movement. Prominent neurite swellings with disrupted microtubules were present in SPG4 neurons at an ultrastructural level. While some of these swellings contain acetylated and detyrosinated tubulin, these tubulin modifications were unchanged in total cell lysates of SPG4 neurons. Upregulation of another microtubule-severing protein, p60 katanin, may partially compensate for microtubuli dynamics in SPG4 neurons. Overexpression of the M1 or M87 spastin isoforms restored neurite length, branching, numbers of primary neurites and reduced swellings in SPG4 neuronal cells. We conclude that neurite complexity and maintenance in HSP patient-derived neurons are critically sensitive to spastin gene dosage. Our data show that elevation of single spastin isoform levels is sufficient to restore neurite complexity and reduce neurite swellings in patient cells. Furthermore, our human model offers an ideal platform for pharmacological screenings with the goal to restore physiological spastin levels in SPG4 patients. PMID:24381312

  1. Clinical applications of electrical stimulation after spinal cord injury.

    PubMed

    Creasey, Graham H; Ho, Chester H; Triolo, Ronald J; Gater, David R; DiMarco, Anthony F; Bogie, Kath M; Keith, Michael W

    2004-01-01

    During the last one-half century, electrical stimulation has become clinically significant for improving health and restoring useful function after spinal cord injury. Short-term stimulation can be provided by electrodes on the skin or percutaneous fine wires, but implanted systems are preferable for long-term use. Electrical stimulation of intact lower motor neurons can exercise paralyzed muscles and reverse wasting; improve strength, endurance, and cardiovascular fitness; and may reduce the progression of osteoporosis. Other potential therapeutic uses being investigated include reduction of spasticity, prevention of deep vein thrombosis, and improvement of tissue health. Pacing of intact phrenic nerves in high tetraplegia can produce effective respiration without mechanical ventilation, allowing improved speech, increased mobility, and increased sense of well-being. Improvement of cough has also been demonstrated. Stimulation of intact sacral nerves can produce effective micturition and reduce urinary tract infection; it can also improve bowel function and erection. It is usually combined with posterior sacral rhizotomy to improve continence and bladder capacity, and the combination has been shown to reduce costs of care. Electroejaculation can now produce semen in most men with spinal cord injury. Significant achievements have also been made in restoring limb function. Useful hand grasp can be provided in C5 and C6 tetraplegia, reducing dependence on adapted equipment and assistants. Standing, assistance with transfers, and walking for short distances can be provided to selected persons with paraplegia, improving their access to objects, places, and opportunities that are inaccessible from a wheelchair. This review summarizes the current state of therapeutic and neuroprosthetic applications of electrical stimulation after spinal cord injury and identifies some future directions of research and clinical and commercial development. PMID:15484667

  2. Performance of spinal cord injury individuals while standing with the Mohammad Taghi Karimi reciprocal gait orthosis (MTK-RGO).

    PubMed

    Karimi, Mohammad Taghi; Amiri, Pouya; Esrafilian, Amir; Sedigh, Jafar; Fatoye, Francis

    2013-03-01

    Most patients with spinal cord injury use a wheelchair to transfer from place to place, however they need to stand and walk with orthosis to improve their health status. Although many orthoses have been designed for paraplegic patients, they have experienced various problems while in use. A new type of reciprocal gait orthosis was designed in the Bioengineering Unit of Strathclyde University to solve the problems of the available orthoses. Since there was no research undertaken regarding testing of the new orthosis on paraplegic subjects, this study was aimed to evaluate the new orthosis during standing of paraplegic subjects. Five paraplegic patients with lesion level between T12 and L1 and aged matched normal subjects were recruited into this study. The stability of subjects was evaluated during quiet standing and while undertaking hand tasks during standing with the new orthosis and the knee ankle foot orthosis (KAFO). The difference between the performances of paraplegic subjects while standing with both orthoses, and between the function of normal and paraplegic subjects were compared using the paired t test and independent sample t test, respectively. The stability of paraplegic subjects in standing with the new orthosis was better than that of the KAFO orthosis (p < 0.05). Moreover, the force applied on the crutch differed between the orthoses. The functional performance of paraplegic subjects was better with the new orthosis compared with normal subjects. The performance of paraplegic subjects while standing with the new orthosis was better than the KAFO. Therefore, the new orthosis may be useful to improve standing and walking in patients with paraplegia. PMID:23404375

  3. Spinal deformity in children treated for neuroblastoma

    SciTech Connect

    Mayfield, J.K.; Riseborough, E.J.; Jaffe, N.; Nehme, M.E.

    1981-02-01

    Of seventy-four children who were treated at a mean age of seventeen months for neuroblastoma and survived more than five years, fifty-six had spinal deformity due either to the disease or to the treatment after a mean follow-up of 12.9 years. Of these fifty-six, 50 per cent had post-radiation scoliosis, and 16 per cent had post-radiation kyphosis, most frequently at the thoracolumbar junction, at the time of follow-up. Two kyphotic thoracolumbar curve patterns were identified: an angular kyphosis with a short radius of curvature and its apex at the twelfth thoracic and first lumbar vertebrae, and a thoracic kyphosis with a long radius of curvature that extended into the lumbar spine. The post-radiation deformity - both the scoliosis and the kyphosis - progressed with growth, the scoliosis at a rate of 1 degree per year and the kyphosis at a rate of 3 degrees per year. Epidural spread of the neuroblastoma was associated with most of the cases of severe scoliosis and kyphosis. The deformity was due either to the laminectomy or to the paraplegia acting in conjunction with the radiation. Eighteen per cent of 419 children with this malignant disease survived more than five years, and of the survivors, 20 per cent had spinal deformity severe enough to warrant treatment. The factors associated with the development of spinal deformity in patient treated for neuroblastoma were: orthovoltage radiation exceeding 3000 rads, asymmetrical radiation of the spine, thoracolumbar kyphosis, and epidural spread of the tumor.

  4. An Investigation of Bilateral Symmetry During Manual Wheelchair Propulsion

    PubMed Central

    Soltau, Shelby L.; Slowik, Jonathan S.; Requejo, Philip S.; Mulroy, Sara J.; Neptune, Richard R.

    2015-01-01

    Studies of manual wheelchair propulsion often assume bilateral symmetry to simplify data collection, processing, and analysis. However, the validity of this assumption is unclear. Most investigations of wheelchair propulsion symmetry have been limited by a relatively small sample size and a focus on a single propulsion condition (e.g., level propulsion at self-selected speed). The purpose of this study was to evaluate bilateral symmetry during manual wheelchair propulsion in a large group of subjects across different propulsion conditions. Three-dimensional kinematics and handrim kinetics along with spatiotemporal variables were collected and processed from 80 subjects with paraplegia while propelling their wheelchairs on a stationary ergometer during three different conditions: level propulsion at their self-selected speed (free), level propulsion at their fastest comfortable speed (fast), and propulsion on an 8% grade at their level, self-selected speed (graded). All kinematic variables had significant side-to-side differences, primarily in the graded condition. Push angle was the only spatiotemporal variable with a significant side-to-side difference, and only during the graded condition. No kinetic variables had significant side-to-side differences. The magnitudes of the kinematic differences were low, with only one difference exceeding 5°. With differences of such small magnitude, the bilateral symmetry assumption appears to be reasonable during manual wheelchair propulsion in subjects without significant upper-extremity pain or impairment. However, larger asymmetries may exist in individuals with secondary injuries and pain in their upper extremity and different etiologies of their neurological impairment. PMID:26125019

  5. Social support and functioning in a patient with spinal cord injury: the role of social skills.

    PubMed

    Müller, Rachel; Rauch, Alexandra; Cieza, Alarcos; Geyh, Szilvia

    2013-09-01

    This study reports on a patient with spinal cord injury (SCI) in whom the interaction between social skills and social support seems to influence functioning. The International Classification of Functioning, Disability and Health (ICF) was used as a reference framework. Qualitative (i.e. observation, structured, and open interviews with the patient and health professionals) and quantitative data (i.e. spinal cord independence measure, medical records) were collected. Content analysis of the interviews was carried out to identify aspects of social skills and social support. An ICF-based documentation tool (i.e. ICF Assessment Sheet) was used to structure information about the level of functioning of body functions and structures, activity and participation, and environmental and personal factors of a 57-year-old man with incomplete paraplegia during first rehabilitation. The patient presented a variety of effective social skills (i.e. assertiveness, goal direction). However, the adaptation of skills, such as asking for help social problem-solving, sensitivity, and expressivity in social relations, became necessary to acquire. The patient received different types of social support (i.e. emotional, informational, and instrumental) from different sources (e.g. family and friends). The qualitative interviews provided indications for an interaction between social skills and social support. The impact of social skills and social support on functioning is discussed. Social skills can mobilize social support and enhance functioning. However, better understanding of social skills, social support, and their interaction in relation to functioning in SCI is required to develop targeted and effective interventions to strengthen psychosocial resources for the enhancement of functioning in patients with SCI. PMID:23337323

  6. Predictors of Electrocerebral Inactivity with Deep Hypothermia

    PubMed Central

    James, Michael L.; Andersen, Nicholas D.; Swaminathan, Madhav; Phillips-Bute, Barbara; Hanna, Jennifer M.; Smigla, Gregory R.; Barfield, Michael E.; Bhattacharya, Syamal D.; Williams, Judson B.; Gaca, Jeffrey G.; Husain, Aatif M.; Hughes, G. Chad

    2013-01-01

    Objective Cooling to electrocerebral inactivity (ECI) by electroencephalography (EEG) remains the gold-standard to maximize cerebral and systemic organ protection during deep hypothermic circulatory arrest (DHCA). We sought to determine predictors of ECI to help guide cooling protocols when EEG monitoring is unavailable. Methods Between July 2005 and July 2011, 396 patients underwent thoracic aortic operation with DHCA; EEG monitoring was utilized in 325 (82%) of these cases to guide the cooling strategy and constituted the study cohort. EEG monitoring was utilized for all elective cases and when available for non-elective cases. Multivariable linear regression was used to assess predictors of the nasopharyngeal temperature and cooling time required to achieve ECI. Results Cooling to a nasopharyngeal temperature of 12.7°C or for a duration of 97 minutes was required to achieve ECI in > 95% of patients. Only 7% and 11% of patients achieved ECI by 18°C or 50 minutes of cooling, respectively. No independent predictors of nasopharyngeal temperature at ECI were identified. Independent predictors of cooling time included body surface area (+18 minutes/m2), white race (+7 minutes), and starting nasopharyngeal temperature (+3 minutes/°C). Low complication rates were observed (1.5% ischemic stroke, 1.5% permanent paraparesis/paraplegia, 2.2% new onset dialysis, and 4.3% 30 day/in-hospital mortality). Conclusion Cooling to a nasopharyngeal temperature of 12.7°C or for a duration of 97 minutes achieved ECI in > 95% of patients in our study population. However, patient-specific factors were poorly predictive of the temperature or cooling time required to achieve ECI, necessitating EEG monitoring for precise ECI detection. PMID:23582829

  7. Invasive carcinoma of urinary bladder in a patient with a spinal cord injury with non-functioning Brindley sacral anterior root stimulator: a case report

    PubMed Central

    Vaidyanathan, Subramanian; Soni, Bakul M; Mansour, Paul; Singh, Gurpreet; Hughes, Peter L

    2008-01-01

    Background Anterior sacral root stimulation combined with sacral posterior rhizotomy restores bladder function in spinal cord-injured patients suffering from hyperactive bladder. After successful implantation of bladder stimulator, urinary infection rate decreases, and patients are able to get rid of indwelling urinary catheters, which in turn reduce the risks for vesical malignancy. We present a spinal cord injury patient with non-functioning Brindley sacral anterior root stimulator, who developed carcinoma of urinary bladder. Case presentation A Caucasian male, who was born in 1943, sustained paraplegia at T-4 (ASIA-B) in 1981. This patient underwent implantation of sacral anterior root stimulator in September 1985. The bladder stimulator started giving trouble since 1996 and the patient went back to using indwelling urethral catheter. In August 2006, this patient passed blood in urine after a routine change of indwelling catheter. Cystoscopy showed unhealthy bladder mucosa. Bladder biopsy revealed carcinoma, which was infiltrating bundles of muscularis propria. Many of the nests showed evidence of squamous differentiation, while others could be transitional or squamous. This patient underwent cystectomy with lymphadenectomy in March 2007 in a hospital nearer his home. Histology showed three nodes involved. This patient has been doing well since the operation. Conclusion Occurrence of vesical malignancy in this patient with non-functioning bladder stimulator is a timely reminder to all health professionals, and health care managers that concerted efforts should be made to rectify a non-functioning sacral anterior root stimulator as soon as possible. Otherwise, facilities should be made available in the community for the spinal cord injury patient to use intermittent catheterisation and thereby, avoid permanent indwelling catheter, vesical calculi and urine infections, which are risk factors for bladder cancer. PMID:18761737

  8. Neuropathy target esterase (NTE): overview and future.

    PubMed

    Richardson, Rudy J; Hein, Nichole D; Wijeyesakere, Sanjeeva J; Fink, John K; Makhaeva, Galina F

    2013-03-25

    Neuropathy target esterase (NTE) was discovered by M.K. Johnson in his quest for the entity responsible for the striking and mysterious paralysis brought about by certain organophosphorus (OP) esters. His pioneering work on OP neuropathy led to the view that the biochemical lesion consisted of NTE that had undergone OP inhibition and aging. Indeed, nonaging NTE inhibitors failed to produce disease but protected against neuropathy from subsequently administered aging inhibitors. Thus, inhibition of NTE activity was not the culprit; rather, formation of an abnormal protein was the agent of the disorder. More recently, however, Paul Glynn and colleagues showed that whereas conventional knockout of the NTE gene was embryonic lethal, conditional knockout of central nervous system NTE produced neurodegeneration, suggesting to these authors that the absence of NTE rather than its presence in some altered form caused disease. We now know that NTE is the 6th member of a 9-protein family called patatin-like phospholipase domain-containing proteins, PNPLA1-9. Mutations in the catalytic domain of NTE (PNPLA6) are associated with a slowly developing disease akin to OP neuropathy and hereditary spastic paraplegia called NTE-related motor neuron disorder (NTE-MND). Furthermore, the NTE protein from affected individuals has altered enzymological characteristics. Moreover, closely related PNPLA7 is regulated by insulin and glucose. These seemingly disparate findings are not necessarily mutually exclusive, but we need to reconcile recent genetic findings with the historical body of toxicological data indicating that inhibition and aging of NTE are both necessary in order to produce neuropathy from exposure to certain OP compounds. Solving this mystery will be satisfying in itself, but it is also an enterprise likely to pay dividends by enhancing our understanding of the physiological and pathogenic roles of the PNPLA family of proteins in neurological health and disease, including a potential role for NTE in diabetic neuropathy. PMID:23220002

  9. Neuronal phospholipid deacylation is essential for axonal and synaptic integrity.

    PubMed

    Glynn, Paul

    2013-03-01

    Recessively-inherited deficiency in the catalytic activity of calcium-independent phospholipase A2-beta (iPLA2?) and neuropathy target esterase (NTE) causes infantile neuroaxonal dystrophy and hereditary spastic paraplegia, respectively. Thus, these two related phospholipases have non-redundant functions that are essential for structural integrity of synapses and axons. Both enzymes are expressed in essentially all neurons and also have independent roles in glia. iPLA2? liberates sn-2 fatty acid and lysophospholipids from diacyl-phospholipids. Ca(2+)-calmodulin tonically-inhibits iPLA2?, but this can be alleviated by oleoyl-CoA. Together with fatty acyl-CoA-mediated conversion of lysophospholipid to diacyl-phospholipid this may regulate sn-2 fatty acyl composition of phospholipids. In the nervous system, iPLA2? is especially important for the turnover of polyunsaturated fatty acid-associated phospholipid at synapses. More information is required on the interplay between iPLA2? and iPLA2-gamma in deacylation of neuronal mitochondrial phospholipids. NTE reduces levels of phosphatidylcholine (PtdCho) by degrading it to glycerophosphocholine and two free fatty acids. The substrate for NTE may be nascent PtdCho complexed with a phospholipid-binding protein. Protein kinase A-mediated phosphorylation enhances PtdCho synthesis and may allow PtdCho accumulation by coordinate inhibition of NTE activity. NTE operates primarily at the endoplasmic reticulum in neuronal soma but is also present in axons. NTE-mediated PtdCho homeostasis facilitates membrane trafficking and this appears most critical for the integrity of axon terminals in the spinal cord and hippocampus. For maintenance of peripheral nerve axons, iPLA2? activity may be able to compensate for NTE-deficiency but not vice-versa. Whether agonists acting at neuronal receptors modulate the activity of either enzyme remains to be determined. This article is part of a Special Issue entitled Phospholipids and Phospholipid Metabolism. PMID:22903185

  10. Altered Behavioral Performance and Live Imaging of Circuit-Specific Neural Deficiencies in a Zebrafish Model for Psychomotor Retardation

    PubMed Central

    Lerer-Goldshtein, Tali; Vatine, Gad David; Appelbaum, Lior

    2014-01-01

    The mechanisms and treatment of psychomotor retardation, which includes motor and cognitive impairment, are indefinite. The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters. AHDS has been associated with mutations in the monocarboxylate transporter 8 (mct8/slc16a2) gene, which is a TH transporter. In order to determine the pathophysiological mechanisms of AHDS, MCT8 knockout mice were intensively studied. Although these mice faithfully replicated the abnormal serum TH levels, they failed to exhibit the neurological and behavioral symptoms of AHDS patients. Here, we generated an mct8 mutant (mct8?/?) zebrafish using zinc-finger nuclease (ZFN)-mediated targeted gene editing system. The elimination of MCT8 decreased the expression levels of TH receptors; however, it did not affect the expression of other TH-related genes. Similar to human patients, mct8?/? larvae exhibited neurological and behavioral deficiencies. High-throughput behavioral assays demonstrated that mct8?/? larvae exhibited reduced locomotor activity, altered response to external light and dark transitions and an increase in sleep time. These deficiencies in behavioral performance were associated with altered expression of myelin-related genes and neuron-specific deficiencies in circuit formation. Time-lapse imaging of single-axon arbors and synapses in live mct8?/? larvae revealed a reduction in filopodia dynamics and axon branching in sensory neurons and decreased synaptic density in motor neurons. These phenotypes enable assessment of the therapeutic potential of three TH analogs that can enter the cells in the absence of MCT8. The TH analogs restored the myelin and axon outgrowth deficiencies in mct8?/? larvae. These findings suggest a mechanism by which MCT8 regulates neural circuit assembly, ultimately mediating sensory and motor control of behavioral performance. We also propose that the administration of TH analogs early during embryo development can specifically reduce neurological damage in AHDS patients. PMID:25255244

  11. Thoracic Endovascular Aortic Repair for Chronic DeBakey IIIb Aortic Dissection

    PubMed Central

    Hughes, G. Chad; Ganapathi, Asvin M.; Keenan, Jeffrey E.; Englum, Brian R.; Hanna, Jennifer M.; Schechter, Matthew A.; Wang, Hanghang; McCann, Richard L.

    2015-01-01

    Background Thoracic endovascular aortic repair (TEVAR) for chronic DeBakey IIIb dissection with associated descending aneurysm remains controversial. This study examines long-term results of TEVAR for this disorder including examination of anatomic features associated with TEVAR outcomes. Methods Between July 2005 and January 2013, 32 patients underwent TEVAR for chronic (>30 days) DeBakey IIIb dissection involving the descending thoracic aorta at a single institution and constituted the study cohort. Results The mean interval from dissection to TEVAR was 32 ± 44 months (range, 1 to 146 months). There were no 30-day or in-hospital deaths, strokes, or paraplegia. During a 54-month median follow-up, there were no aortic-related deaths. Significant thoracic aneurysm sac regression (>1 cm) in the intervened segment was observed in 89%. Thoracic remodeling was not correlated with the number of visceral vessels arising from the true lumen or the number or size of residual distal fenestrations; failure of thoracic remodeling was associated with fenestrations distal to the endograft(s) in the descending thoracic aorta, most often stent graft-induced new entry tears. Complete resolution of the thoracic and abdominal false lumen after TEVAR was observed in 15.6% (n = 5). All patients in this group had all visceral vessels arising from the true lumen and fewer than three residual distal fenestrations. Conclusions Thoracic endovascular aortic repair is effective for chronic DeBakey IIIb dissection with associated descending aneurysm, with excellent 30-day and long-term outcomes and significant aortic remodeling in the vast majority of patients. Thoracic remodeling does not appear dependent on distal anatomic characteristics of the true and false lumens, although care should be taken to cover all thoracic fenestrations and avoid creation of stent graft-induced new entry tears to ensure clinical success. Complete aortic remodeling was observed only in the setting of all visceral vessels off the true lumen with fewer than three residual distal fenestrations, and this would appear the ideal anatomy for TEVAR in this scenario. PMID:25282168

  12. Staged hybrid approach using proximal TEVAR and distal open repair for the treatment of extensive thoracoabdominal aortic aneurysms

    PubMed Central

    Johnston, William F.; Upchurch, Gilbert R.; Tracci, Margaret C.; Cherry, Kenneth J.; Ailawadi, Gorav; Kern, John A.

    2012-01-01

    Objective Repair of patients with extent I and II thoracoabdominal aortic aneurysms (TAAAs) is associated with significant morbidity and mortality, while repair of more distal extent III and IV TAAAs has a lower risk of mortality and paraplegia. Therefore, we describe an approach using thoracic endovascular repair (TEVAR) as the index operation to convert extent I and II TAAAs to extent III and IV TAAAs amenable to subsequent open aortic repair to minimize patient risk. Methods Between July 2007 and March 2012, 10 staged hybrid operations were performed to treat 1 extent I and 9 extent II TAAAs. Aortic aneurysm pathology included 5 chronic type B dissections, 3 acute type B dissections, and 2 penetrating aortic ulcers. Initially, the proximal descending thoracic aorta was repaired with TEVAR for coverage of the most proximal fenestration or penetrating ulcer, with 7 elective and 3 emergent repairs. Interval open distal aortic replacement was performed either in a short-term planned setting or for progressive dilation of the distal aortic segment. In the open repair, the proximal end of the graft was sewn directly to the distal end of the TEVAR and outer wall of the aorta. Results Average patient age was 48 years with the majority of patients male (60%). Risk factors included hypertension (80%), current tobacco use (50%), and Marfan syndrome (30%). Postoperative complications following TEVAR included endoleaks [type IA (n=1); type II (n=3)], pleural effusions (n=3), and acute kidney injury (n=1). Endovascular re-interventions were required in 3 cases. In dissection cases, persistent filling of the false lumen was common and associated with distal thoracic aortic dilation. Complications of open repair included acute kidney injury (n=2) but no cardiac, pulmonary, or neurologic morbidity. Median time between TEVAR and open repair was 14 weeks. Most importantly, there was no mortality or neurologic deficit after either procedure with a median follow up of 35 weeks. Conclusions A staged hybrid approach to extensive TAAAs combining proximal TEVAR followed by interval open distal TAAA repair is safe and appears to be an effective alternative to traditional open repair. This approach may decrease the significant morbidity associated with single stage open extent I and II TAAA repairs and may be applicable to many TAAA etiologies. PMID:22832268

  13. Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

    PubMed Central

    Yu-Wai-Man, Patrick; Griffiths, Philip G.; Chinnery, Patrick F.

    2011-01-01

    Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general population. Both disorders share striking pathological similarities, marked by the selective loss of retinal ganglion cells (RGCs) and the early involvement of the papillomacular bundle. Three mitochondrial DNA (mtDNA) point mutations; m.3460G>A, m.11778G>A, and m.14484T>C account for over 90% of LHON cases, and in DOA, the majority of affected families harbour mutations in the OPA1 gene, which codes for a mitochondrial inner membrane protein. Optic nerve degeneration in LHON and DOA is therefore due to disturbed mitochondrial function and a predominantly complex I respiratory chain defect has been identified using both in vitro and in vivo biochemical assays. However, the trigger for RGC loss is much more complex than a simple bioenergetic crisis and other important disease mechanisms have emerged relating to mitochondrial network dynamics, mtDNA maintenance, axonal transport, and the involvement of the cytoskeleton in maintaining a differential mitochondrial gradient at sites such as the lamina cribosa. The downstream consequences of these mitochondrial disturbances are likely to be influenced by the local cellular milieu. The vulnerability of RGCs in LHON and DOA could derive not only from tissue-specific, genetically-determined biological factors, but also from an increased susceptibility to exogenous influences such as light exposure, smoking, and pharmacological agents with putative mitochondrial toxic effects. Our concept of inherited mitochondrial optic neuropathies has evolved over the past decade, with the observation that patients with LHON and DOA can manifest a much broader phenotypic spectrum than pure optic nerve involvement. Interestingly, these phenotypes are sometimes clinically indistinguishable from other neurodegenerative disorders such as Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and multiple sclerosis, where mitochondrial dysfunction is also thought to be an important pathophysiological player. A number of vertebrate and invertebrate disease models has recently been established to circumvent the lack of human tissues, and these have already provided considerable insight by allowing direct RGC experimentation. The ultimate goal is to translate these research advances into clinical practice and new treatment strategies are currently being investigated to improve the visual prognosis for patients with mitochondrial optic neuropathies. PMID:21112411

  14. Human Disease-Drug Network Based on Genomic Expression Profiles

    PubMed Central

    Hu, Guanghui; Agarwal, Pankaj

    2009-01-01

    Background Drug repositioning offers the possibility of faster development times and reduced risks in drug discovery. With the rapid development of high-throughput technologies and ever-increasing accumulation of whole genome-level datasets, an increasing number of diseases and drugs can be comprehensively characterized by the changes they induce in gene expression, protein, metabolites and phenotypes. Methodology/Principal Findings We performed a systematic, large-scale analysis of genomic expression profiles of human diseases and drugs to create a disease-drug network. A network of 170,027 significant interactions was extracted from the ?24.5 million comparisons between ?7,000 publicly available transcriptomic profiles. The network includes 645 disease-disease, 5,008 disease-drug, and 164,374 drug-drug relationships. At least 60% of the disease-disease pairs were in the same disease area as determined by the Medical Subject Headings (MeSH) disease classification tree. The remaining can drive a molecular level nosology by discovering relationships between seemingly unrelated diseases, such as a connection between bipolar disorder and hereditary spastic paraplegia, and a connection between actinic keratosis and cancer. Among the 5,008 disease-drug links, connections with negative scores suggest new indications for existing drugs, such as the use of some antimalaria drugs for Crohn's disease, and a variety of existing drugs for Huntington's disease; while the positive scoring connections can aid in drug side effect identification, such as tamoxifen's undesired carcinogenic property. From the ?37K drug-drug relationships, we discover relationships that aid in target and pathway deconvolution, such as 1) KCNMA1 as a potential molecular target of lobeline, and 2) both apoptotic DNA fragmentation and G2/M DNA damage checkpoint regulation as potential pathway targets of daunorubicin. Conclusions/Significance We have automatically generated thousands of disease and drug expression profiles using GEO datasets, and constructed a large scale disease-drug network for effective and efficient drug repositioning as well as drug target/pathway identification. PMID:19657382

  15. [Focus on current research: improving the mobility of paraplegic patients].

    PubMed

    Dietz, V

    2000-06-01

    Since the first paraplegic centre was established in 1945, life expectancy and life quality of paraplegics have considerably improved. However, endeavours to enhance the mobility of these patients have been less successful. The most promising approach, functional electric stimulation of paralysed muscles, is poorly accepted by patients at present because of technical problems. This study describes current approaches which may help to improve patients' mobility. A central motor lesion is perceived by the patient as a movement disorder of the legs, e.g. a gait disorder. Neurological investigation indicates, on the basis of exaggerated tendon reflexes and increased resistance of the non-activated leg muscles to stretching, that spastic paresis underlies the movement disorder. This combination of symptoms and clinical (physical) signs suggests that the exaggerated tendon tap reflexes are responsible for muscle hypertonia and the latter causes the movement disorder. However, electromyography during movement shows that the exaggerated short latency reflexes are associated with loss or attenuation of the functionally essential polysynaptic spinal reflexes. In the event of impaired supraspinal control there is loss of monosynaptic stretch reflex inhibition combined with reduced facilitation of polysynaptic spinal reflexes. Development of tension in tonically active calf muscles in patients with spastic paresis during gait occurs independently of spinal reflex activity. From electrophysiological and histological observations it can be assumed that transformation of motor units resulting in simple and less well adapted regulation of muscle tone allows movements such as gait. The reduction of muscle tone obtained with antispastic drugs is usually associated with paresis and may therefore hamper locomotion. Locomotor training represents a new attempt to improve the mobility of patients with incomplete paraplegia. It includes activation of neuronal circuits within the spinal cord below the level of the lesion. In incomplete paraplegics a coordinated leg muscle activation pattern and corresponding leg movements can be triggered and trained in patients standing on a treadmill with partial weight support. Improvement of training of the spinal cord locomotor centre can be expected from triggering of spinal cord reflexes and regeneration of spinal tract fibres, which is expected to be possible in the near future. PMID:10893754

  16. Cooling athletes with a spinal cord injury.

    PubMed

    Griggs, Katy E; Price, Michael J; Goosey-Tolfrey, Victoria L

    2015-01-01

    Cooling strategies that help prevent a reduction in exercise capacity whilst exercising in the heat have received considerable research interest over the past 3 decades, especially in the lead up to a relatively hot Olympic and Paralympic Games. Progressing into the next Olympic/Paralympic cycle, the host, Rio de Janeiro, could again present an environmental challenge for competing athletes. Despite the interest and vast array of research into cooling strategies for the able-bodied athlete, less is known regarding the application of these cooling strategies in the thermoregulatory impaired spinal cord injured (SCI) athletic population. Individuals with a spinal cord injury (SCI) have a reduced afferent input to the thermoregulatory centre and a loss of both sweating capacity and vasomotor control below the level of the spinal cord lesion. The magnitude of this thermoregulatory impairment is proportional to the level of the lesion. For instance, individuals with high-level lesions (tetraplegia) are at a greater risk of heat illness than individuals with lower-level lesions (paraplegia) at a given exercise intensity. Therefore, cooling strategies may be highly beneficial in this population group, even in moderate ambient conditions (~21 °C). This review was undertaken to examine the scientific literature that addresses the application of cooling strategies in individuals with an SCI. Each method is discussed in regards to the practical issues associated with the method and the potential underlying mechanism. For instance, site-specific cooling would be more suitable for an athlete with an SCI than whole body water immersion, due to the practical difficulties of administering this method in this population group. From the studies reviewed, wearing an ice vest during intermittent sprint exercise has been shown to decrease thermal strain and improve performance. These garments have also been shown to be effective during exercise in the able-bodied. Drawing on additional findings from the able-bodied literature, the combination of methods used prior to and during exercise and/or during rest periods/half-time may increase the effectiveness of a strategy. However, due to the paucity of research involving athletes with an SCI, it is difficult to establish an optimal cooling strategy. Future studies are needed to ensure that research outcomes can be translated into meaningful performance enhancements by investigating cooling strategies under the constraints of actual competition. Cooling strategies that meet the demands of intermittent wheelchair sports need to be identified, with particular attention to the logistics of the sport. PMID:25119157

  17. Providers' Perceptions of Spinal Cord Injury Pressure Ulcer Guidelines

    PubMed Central

    Thomason, Susan S; Evitt, Celinda P; Harrow, Jeffrey J; Love, Linda; Moore, D. Helen; Mullins, Maria A; Powell-Cope, Gail; Nelson, Audrey L

    2007-01-01

    Background/Objective: Pressure ulcers are a serious complication for people with spinal cord injury (SCI). The Consortium for Spinal Cord Medicine (CSCM) published clinical practice guidelines (CPGs) that provided guidance for pressure ulcer prevention and treatment after SCI. The aim of this study was to assess providers' perceptions for each of the 32 CPG recommendations regarding their agreement with CPGs, degree of CPG implementation, and CPG implementation barriers and facilitators. Methods: This descriptive mixed-methods study included both qualitative (focus groups) and quantitative (survey) data collection approaches. The sample (n = 60) included 24 physicians and 36 nurses who attended the 2004 annual national conferences of the American Paraplegia Society or American Association of Spinal Cord Injury Nurses. This sample drew from two sources: a purposive sample from a list of preregistered participants and a convenience sample of conference attendee volunteers. We analyzed quantitative data using descriptive statistics and qualitative data using a coding scheme to capture barriers and facilitators. Results: The focus groups agreed unanimously on the substance of 6 of the 32 recommendations. Nurse and physician focus groups disagreed on the degree of CGP implementation at their sites, with nurses as a group perceiving less progress in implementation of the guideline recommendations. The focus groups identified only one recommendation, complications of surgery, as being fully implemented at their sites. Categories of barriers and facilitators for implementation of CPGs that emerged from the qualitative analysis included (a) characteristics of CPGs: need for research/evidence, (b) characteristics of CPGs: complexity of design and wording, (c) organizational factors, (d) lack of knowledge, and (e) lack of resources. Conclusions: Although generally SCI physicians and nurses agreed with the CPG recommendations as written, they did not feel these recommendations were fully implemented in their respective clinical settings. The focus groups identified multiple barriers to the implementation of the CPGs and suggested several facilitators/solutions to improve implementation of these guidelines in SCI. Participants identified organizational factors and the lack of knowledge as the most substantial systems/issues that created barriers to CPG implementation. PMID:17591223

  18. Spinal cord compression injury in the mouse: presentation of a model including assessment of motor dysfunction.

    PubMed

    Farooque, M

    2000-07-01

    The purpose of this study was to develop a spinal cord injury model in the mouse. Various degrees of extradural compression were used to induce mild, moderate or severe compression injuries. Furthermore, a locomotor rating scale was developed by which the functional outcome of the spinal cord injury could be assessed. The introduction of such a model will be useful for further studies on the pathogenesis and treatment strategies of spinal cord injury. To assess hindlimb motor function, a 10-point scale was used. Initially, the animals were allowed to move freely in an open field and were rated 0-5, 0 being no movement and 5 being almost normal. Animals scoring a 5 were then assessed using steel bars with decreasing widths from 2 cm to 5 mm. For each bar successfully crossed over, they gained additional points. Before injury the hindlimb motor function score (MFS) in all the animals was 10. In mice with mild compression, MFS was decreased slightly on day 1 and recovered to 9 +/- 0.6 on day 14. For mice with moderate compression, the MFS decreased to 4.6 +/- 0.4 on day 1 after injury and gradually improved to 8.1 +/- 0.6 on day 14. Severe injury resulted in paraplegia of the hindlimbs day 1 after injury with a score of 0.6 +/- 0.2. By day 14 after injury, these animals gradually recovered to 3.9 +/- 0.1, could bear the weight on the hindlimbs and walk with a severe deficit. There was a 3%, 9% and 19% decrease in the total cross-sectional area of the spinal cord 14 days after mild, moderate and severe injury, respectively. Microtubule-associated protein immunostaining revealed that the gray matter decreased to 61 +/- 7% in moderately injured animals, while severe compression resulted in a complete loss of gray matter. White matter decreased to 86 +/- 6% in moderately injured animals and 29 +/- 11% in severely injured animals. This study shows that the mouse can be used to achieve reproducible spinal cord compression injuries of various degrees of severity. The force of the impact correlates well with the neurological and light microscopic outcome. The motor function test presented in this paper and the computerized quantification of tissue damage can be used to evaluate the efficacy of different treatment strategies. PMID:10912915

  19. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

    PubMed Central

    Rohkamm, Barbara; Reilly, Mary M.; Lochmüller, Hanns; Schlotter-Weigel, Beate; Barisic, Nina; Schöls, Ludger; Nicholson, Garth; Pareyson, Davide; Laurà, Matilde; Janecke, Andreas R.; Miltenberger-Miltenyi, Gabriel; John, Elisabeth; Fischer, Carina; Grill, Franz; Wakeling, William; Davis, Mary; Pieber, Thomas R.; Auer-Grumbach, Michaela

    2011-01-01

    Objective Distal hereditary motor neuropathy type V (dHMN-V) and Charcot–Marie–Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli–Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes. Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS. Design To define the frequency and distribution of mutations in the GARS, BSCL2, HSPB1 and HSPB8 genes we screened 33 unrelated sporadic and familial patients diagnosed as either dHMN-V, CMT2D or SS. Exon 3 of the BSCL2 gene was screened in further 69 individuals with an unclassified dHMN phenotype or diagnosed as hereditary spastic paraplegia (HSP) complicated by pure motor neuropathy. Results Four patients diagnosed with dHMN-Vor SS carried known heterozygous BSCL2 mutations (N88S and S90L). In one dHMN-V patient we detected a putative GARS mutation (A57V). No mutations were detected in HSPB1 and HSPB8. The diagnostic yield gained in the series of 33 probands was 12% for BSCL2 mutations and 3% for GARS mutations. In the series of unclassified dHMN and complicated HSP cases no mutations were found. Conclusions Our data confirm that most likely only two mutations (N88S, S90L) in exon 3 of BSCL2 may lead to dHMN-V or SS phenotypes. Mutations in GARS, HSPB1 and HSPB8. are not a common cause of dHMN-V, SS and CMT2D. We would therefore suggest that a genetic testing of dHMN-V and SS patients should begin with screening of exon 3 of the BSCL2 gene. Screening of the GARS gene is useful in patients with CMT2 with predominant hand involvement and dHMN-V. The rather low frequencies of BSCL2, GARS, HSPB1 and HSPB8 mutations in dHMN-V, CMT2D and SS patients strongly point to further genetic heterogeneity of these related disorders. PMID:17663003

  20. [Psychological situation of home care patients in the Federal Republic of Germany].

    PubMed

    Bergler, R

    1993-02-01

    The demographic development, advances in medicine and also the increase in AIDS and paraplegia at an early age means that we must assume approximately two million people in Germany requiring care and attention or nursing on a longterm basis. Object of the explorative pilot-study is to analyse the conditions for mental well-being in the case of homecare patients and the influence on behaviour, enjoyment of life and the quality of their hopes for the future. In the study two comparable random surveys have been examined in all their demographic and medical characteristics: (1) homecare patients (n = 60) and (2) patients in old people's or nursing homes (n = 30); in so far as they can be compared, another random survey of younger homecare patients (n = 33) will be taken into consideration in some of the questions. Under examination is the hypothesis that the well-being of people requiring nursing is considerably dependent upon (1) the quality, activity and diversity of their social network (social assistance), (2) the extent of their own competence and deficiences (subjective level of performance), (3) the history of illness and the subjective health status (subjective health status), (4) the way in which they interpret and cope with their own illness (situative positioning), (5) their domestic surroundings, the sociodemographic situation and the subjective creative freedom (ecology), (6) the person's lifestyle and the quality of his prophylactic behaviour (biographical behavioural manner), (7) their ideas, opinions and convictions relating to the alternatives homecare and old people's or nursing home. General findings to be emphasized in the case of homecare patients--compared with patients in old people's or nursing homes--are that: homecare facilitates and/or encourages (1) greater personal freedom, own control over the environment, familiarity, security, variety, challenge, individuality, good care and attention, activation of needs, appetite, future orientation (well-being). (2) a higher level of active social contacts (ringing other people; visiting friends, neighbours, family; writing letters, holidays) and passive social contacts (visits, telephone calls and mail from friends, relatives, etc.) Instead of resignedly conforming to the situation, they are receptive for stimulation, learning, positive interpretation of the situation. (3) more possibilities for social contacts, communication, social stimulation: everyday pleasures are experienced more frequently.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:8333901

  1. Defective cellular immunity in renal failure: depression of reactivity of lymphocytes to phytohemagglutinin by renal failure serum

    PubMed Central

    Newberry, W. Marcus; Sanford, Jay P.

    1971-01-01

    In defining host resistance factors in uremia, experiments were designed to assess the effect of renal failure serum upon the reactivity of normal human lymphocytes to phytohemagglutinin in vitro. Normal buffy coat cells were resuspended in sera obtained from normal subjects and from 14 patients with renal failure, then stimulated with phytohemagglutinin M and the cellular response measured by the increase in thymidine or uridine uptake. The mean thymidine uptake by stimulated cells in normal sera was 14,389 ±1695 (SEM) cpm per 2 × 106 lymphocytes. Uridine uptake under the same conditions was 12,540 ±1887 cpm. Compared to these are a mean thymidine uptake of 2740 ±457 cpm and uridine uptake of 3928 ±667 cpm in renal failure sera. Both differences are significant at P<0.01 level. For controls representing “chronic illnesses,” sera from patients with pneumococcal meningitis, cirrhosis of the liver without jaundice, rheumatoid arthritis, and paraplegia with urinary tract infection did not cause suppression. No single drug had been taken by all the renal failure patients; three patients were taking no drugs. The serum from one patient with acute renal failure suppressed thymidine uptake while her serum obtained after recovery from her illness supported a normal lymphocyte response. Improvement of lymphocyte response was also noted in 9 of 10 sera obtained from patients immediately after hemodialysis. These observations plus the inhibition of stimulated cells by normal serum mixed with renal failure serum indicate the presence of a dialyzable inhibitory factor rather than the absence of a supporting factor in the renal failure sera. Lymphocytes preincubated for 24 hr in renal failure serum responded normally when transferred to normal serum and stimulated. Cells stimulated in normal serum and transferred to renal failure serum within the initial 24 hr of incubation demonstrated depressed thymidine uptake. Also, cell survival for 72 hr incubation as judged by trypan blue exclusion and chromium-51 release was similar in normal and renal failure sera. Thus, the suppressive effect of renal failure serum does not depend upon the initial phytohemagglutinin-cell interaction nor upon a significant cytotoxic effect. These studies demonstrate that a dialyzable factor(s) in the serum of patients with renal failure can greatly suppress one parameter by which an immune function of circulating lymphocytes is assessed and provides at least, a partial explanation for delayed homograft rejections in renal failure as well as the susceptibility of such patients to various infections. PMID:5578233

  2. Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain

    PubMed Central

    2013-01-01

    Introduction Mutations in proteolipid protein (PLP), the most abundant myelin protein in the CNS, cause the X-linked dysmyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2). Point mutations, deletion, and duplication of the PLP1 gene cause PMD/SPG2 with varying clinical presentation. Deletion of an intronic splicing enhancer (ISEdel) within intron 3 of the PLP1 gene is associated with a mild form of PMD. Clinical and preclinical studies have indicated that mutations in myelin proteins, including PLP, can induce neuroinflammation, but the temporal and spatial onset of the reactive glia response in a clinically relevant mild form of PMD has not been defined. Methods A PLP-ISEdel knockin mouse was used to examine the behavioral and neuroinflammatory consequences of a deletion within intron 3 of the PLP gene, at two time points (two and four months old) early in the pathological progression. Mice were characterized functionally using the open field task, elevated plus maze, and nesting behavior. Quantitative neuropathological analysis was for markers of astrocytes (GFAP), microglia (IBA1, CD68, MHCII) and axons (APP). The Aperio ScanScope was used to generate a digital, high magnification photomicrograph of entire brain sections. These digital slides were used to quantify the immunohistochemical staining in ten different brain regions to assess the regional heterogeneity in the reactive astrocyte and microglial response. Results The PLP-ISEdel mice exhibited behavioral deficits in the open field and nesting behavior at two months, which did not worsen by four months of age. A marker of axonal injury (APP) increased from two months to four months of age. Striking was the robust reactive astrocyte and microglia response which was also progressive. In the two-month-old mice, the astrocyte and microglia reactivity was most apparent in white matter rich regions of the brain. By four months of age the gliosis had become widespread and included both white as well as gray matter regions of the brain. Conclusions Our results indicate, along with other preclinical models of PMD, that an early reactive glia response occurs following mutations in the PLP gene, which may represent a potentially clinically relevant, oligodendrocyte-independent therapeutic target for PMD. PMID:24314267

  3. Greatly increased prevalence of esophageal dysmotility observed in persons with spinal cord injury.

    PubMed

    Radulovic, M; Schilero, G J; Yen, C; Bauman, W A; Wecht, J M; Ivan, A; La Fountaine, M F; Korsten, M A

    2014-09-16

    The effects of spinal cord injury (SCI) on esophageal motility are largely unknown. Furthermore, due to the complete or partial loss of sensory innervation to the upper gastrointestinal tract, a symptom-based diagnosis of esophageal dysmotility is problematic in the SCI population. To determine the prevalence and characterize the type of motility disorders observed in persons with chronic SCI compared with that of able-bodied (AB) controls based on esophageal pressure topography isometrics acquired by high-resolution manometry and categorized by application of the Chicago Classification. High-resolution manometry of the esophagus was performed in 39 individuals: 14 AB, 12 with paraplegia (level of injury between T4-T12) and 13 with tetraplegia (level of injury between C5-C7). A catheter containing multiple pressure sensors arranged at 360° was introduced into the esophagi of subjects at a distance that allowed visualization of both the upper esophageal sphincters (UES) and lower esophageal sphincters (LES). After a period to acquire pressures at baseline, subjects were asked to perform 10 wet swallows with 5-mL boluses of isotonic saline while esophageal pressure and impedance were being recorded. No significant differences were noted for gender, age, or body mass index between AB and SCI groups. Twenty-one of 25 (84%) subjects with SCI had at least one motility abnormality: 12% with Type II achalasia, 4% with Type III achalasia, 20% with esophagogastric junction outflow obstruction, 4% with the hypercontractile esophagus, and 48% with peristaltic abnormalities (weak peristalsis with small or large defects or frequent failed peristalsis). In contrast, only 7% (1 out of 14) of the AB subjects had any type of esophageal motility disorder. Despite the lack of subjective complaints and clinical awareness, esophageal dysmotility appears to be a highly prevalent condition in persons with SCI. The use of new and improved techniques, as well as a more stringent classification system, permitted the identification of the presence of nonspecific motility disorders in almost all SCI subjects, including four individuals who were previously undiagnosed with achalasia. Future work in persons with SCI is required to clarify the clinical impact of this observation and to study potential associations between esophageal dysmotility, gastroesophageal reflux disease, and pulmonary function. An increased awareness of esophageal dysfunction in the SCI population may lead to the development of new clinical guidelines for the diagnosis, prevention, and treatment of these largely unrecognized disorders. PMID:25224683

  4. Continuous improvement after multiple mesenchymal stem cell transplantations in a patient with complete spinal cord injury.

    PubMed

    Jarocha, Danuta; Milczarek, Olga; Wedrychowicz, Anna; Kwiatkowski, Stanislaw; Majka, Marcin

    2015-01-01

    Interruption of spinal cord (SC) continuity leads to functional loss below the lesion level. The purpose of this study was to evaluate the safety and efficacy of bone marrow nucleated cell (BMNC) and multiple mesenchymal stem cell (MSC) transplantations in spinal cord injury (SCI). A patient with total SC interruption at the Th2-3 level underwent experimental therapy with BMNC and MSC transplantations followed with intensive neurorehabilitation treatment. At admission, 6 h after SCI, the patient was scored ASIA A, had a Th1 sensation level, paraplegia with sphincter palsy, and was without the ability to control trunk movement. Neurophysiology examination showed bilateral axonal damage to the motor and sensory neural fibers with no motor unit potentials or peripheral motor nerve conduction in the lower extremities. The standard therapy had been applied and had not produced any positive results. The patient was treated with autologous BMNCs injected intravenously (3.2×10(9)) and intrathecally (0.5×10(9)) 10 weeks after the SCI and with five rounds of MSCs every 3-4 months (1.3-3.65×10(7)) administered via lumbar puncture. Total number of transplanted MSC cells during the course of treatment was 1.54×10(8). There were no complications related to transplantations and no side effects related to the therapy during 2 years of treatment. The ASIA score improved from A to C/D (from 112 to 231 points). The sensation level expanded from Th1 to L3-4, and the patient's ability to control the body trunk was fully restored. Bladder filling sensation, bladder control, and anal sensation were also restored. Muscle strength in the left lower extremities improved from plegia to deep paresis (1 on the Lovett scale). The patient's ability to move lower extremities against gravity supported by the movements in quadriceps was restored. The patient gained the ability to stand in a standing frame and was able to walk with the support of hip and knee ortheses. Magnetic resonance imaging (MRI) revealed that at the Th2/Th3 level, where the hemorrhagic necrosis was initially observed, small tissue structures appeared. Our results suggest that repeated intrathecal infusions of MSCs might have the potential to produce clinically meaningful improvements for SCI patients. PMID:25807231

  5. Safety and Efficacy of At-Home Robotic Locomotion Therapy in Individuals with Chronic Incomplete Spinal Cord Injury: A Prospective, Pre-Post Intervention, Proof-of-Concept Study

    PubMed Central

    Rupp, Rüdiger; Schließmann, Daniel; Plewa, Harry; Schuld, Christian; Gerner, Hans Jürgen; Weidner, Norbert; Hofer, Eberhard P.; Knestel, Markus

    2015-01-01

    Background The compact Motorized orthosis for home rehabilitation of Gait (MoreGait) was developed for continuation of locomotion training at home. MoreGait generates afferent stimuli of walking with the user in a semi-supine position and provides feedback about deviations from the reference walking pattern. Objective Prospective, pre-post intervention, proof-of-concept study to test the feasibility of an unsupervised home-based application of five MoreGait prototypes in subjects with incomplete spinal cord injury (iSCI). Methods Twenty-five (5 tetraplegia, 20 paraplegia) participants with chronic (mean time since injury: 5.8 ± 5.4 (standard deviation, SD) years) sensorimotor iSCI (7 ASIA Impairment Scale (AIS) C, 18 AIS D; Walking Index for Spinal Cord Injury (WISCI II): Interquartile range 9 to 16) completed the training (45 minutes / day, at least 4 days / week, 8 weeks). Baseline status was documented 4 and 2 weeks before and at training onset. Training effects were assessed after 4 and 8 weeks of therapy. Results After therapy, 9 of 25 study participants improved with respect to the dependency on walking aids assessed by the WISCI II. For all individuals, the short-distance walking velocity measured by the 10-Meter Walk Test showed significant improvements compared to baseline (100%) for both self-selected (Mean 139.4% ± 35.5% (SD)) and maximum (Mean 143.1% ± 40.6% (SD)) speed conditions as well as the endurance estimated with the six-minute walk test (Mean 166.6% ± 72.1% (SD)). One device-related adverse event (pressure sore on the big toe) occurred in over 800 training sessions. Conclusions Home-based robotic locomotion training with MoreGait is feasible and safe. The magnitude of functional improvements achieved by MoreGait in individuals with iSCI is well within the range of complex locomotion robots used in hospitals. Thus, unsupervised MoreGait training potentially represents an option to prolong effective training aiming at recovery of locomotor function beyond in-patient rehabilitation. Trial Registration German Clinical Trials Register (DKRS) DRKS00005587 PMID:25803577

  6. Comparison of minimally invasive surgery with standard open surgery for vertebral thoracic metastases causing acute myelopathy in patients with short- or mid-term life expectancy: surgical technique and early clinical results.

    PubMed

    Miscusi, Massimo; Polli, Filippo Maria; Forcato, Stefano; Ricciardi, Luca; Frati, Alessandro; Cimatti, Marco; De Martino, Luca; Ramieri, Alessandro; Raco, Antonino

    2015-05-01

    OBJECT Spinal metastasis is common in patients with cancer. About 70% of symptomatic lesions are found in the thoracic region of the spine, and cord compression presents as the initial symptom in 5%-10% of patients. Minimally invasive spine surgery (MISS) has recently been advocated as a useful approach for spinal metastases, with the aim of decreasing the morbidity associated with more traditional open spine surgery; furthermore, the recovery time is reduced after MISS, such that postoperative chemotherapy and radiotherapy can begin sooner. METHODS Two series of oncological patients, who presented with acute myelopathy due to vertebral thoracic metastases, were compared in this study. Patients with complete paraplegia for more than 24 hours and with a modified Bauer score greater than 2 were excluded from the study. The first group (n = 23) comprised patients who were prospectively enrolled from May 2010 to September 2013, and who were treated with minimally invasive laminotomy/laminectomy and percutaneous stabilization. The second group (n = 19) comprised patients from whom data were retrospectively collected before May 2010, and who had been treated with laminectomy and stabilization with traditional open surgery. Patient groups were similar regarding general characteristics and neurological impairment. Results were analyzed in terms of neurological recovery (American Spinal Injury Association grade), complications, pain relief (visual analog scale), and quality of life (European Organisation for Research and Treatment of Cancer [EORTC] QLQ-C30 and EORTC QLQ-BM22 scales) at the 30-day follow-up. Operation time, postoperative duration of bed rest, duration of hospitalization, intraoperative blood loss, and the need and length of postoperative opioid administration were also evaluated. RESULTS There were no significant differences between the 2 groups in terms of neurological recovery and complications. Nevertheless, the MISS group showed a clear and significant improvement in terms of blood loss, operation time, and bed rest length, which is associated with a more rapid functional recovery and discharge from the hospital. Postoperative pain and the need for opioid administration were also significantly less pronounced in the MISS group. Results from the EORTC QLQ-C30 and QLQ-BM22 scales showed a more pronounced improvement in quality of life at follow-up in the MISS group. CONCLUSIONS In the authors' opinion, MISS techniques should be considered the first choice for the treatment for patients with spinal metastasis and myelopathy. MISS is as safe and effective for spinal cord decompression and spine fixation as traditional surgery, and it also reduces the impact of surgery in critical patients. However, further studies are needed to confirm these findings. PMID:25723122

  7. Beneficial effect of the oxygen free radical scavenger amifostine (WR-2721) on spinal cord ischemia/reperfusion injury in rabbits

    PubMed Central

    Chronidou, Fany; Apostolakis, Efstratios; Papapostolou, Ioannis; Grintzalis, Konstantinos; Georgiou, Christos D; Koletsis, Efstratios N; Karanikolas, Menelaos; Papathanasopoulos, Panagiotis; Dougenis, Dimitrios

    2009-01-01

    Background Paraplegia is the most devastating complication of thoracic or thoraco-abdominal aortic surgery. During these operations, an ischemia-reperfusion process is inevitable and the produced radical oxygen species cause severe oxidative stress for the spinal cord. In this study we examined the influence of Amifostine, a triphosphate free oxygen scavenger, on oxidative stress of spinal cord ischemia-reperfusion in rabbits. Methods Eighteen male, New Zealand white rabbits were anesthetized and spinal cord ischemia was induced by temporary occlusion of the descending thoracic aorta by a coronary artery balloon catheter, advanced through the femoral artery. The animals were randomly divided in 3 groups. Group I functioned as control. In group II the descending aorta was occluded for 30 minutes and then reperfused for 75 min. In group III, 500 mg Amifostine was infused into the distal aorta during the second half-time of ischemia period. At the end of reperfusion all animals were sacrificed and spinal cord specimens were examined for superoxide radicals by an ultra sensitive fluorescent assay. Results Superoxide radical levels ranged, in group I between 1.52 and 1.76 (1.64 ± 0.10), in group II between 1.96 and 2.50 (2.10 ± 0.23), and in group III (amifostine) between 1.21 and 1.60 (1.40 ± 0.19) (p = 0.00), showing a decrease of 43% in the Group of Amifostine. A lipid peroxidation marker measurement ranged, in group I between 0.278 and 0.305 (0.296 ± 0.013), in group II between 0.427 and 0.497 (0.463 ± 0.025), and in group III (amifostine) between 0.343 and 0.357 (0.350 ± 0.007) (p < 0.00), showing a decrease of 38% after Amifostine administration. Conclusion By direct and indirect methods of measuring the oxidative stress of spinal cord after ischemia/reperfusion, it is suggested that intra-aortic Amifostine infusion during spinal cord ischemia phase, significantly attenuated the spinal cord oxidative injury in rabbits. PMID:19758462

  8. [Figures of first laureates of the Wiktor Dega medal (XXXVII Jubilee Congress of Polish Orthopaedic and Traumatologic Society, 10-13 September 2008)].

    PubMed

    Nowakowski, Andrzej; Rapa?a, Kazimierz

    2008-01-01

    Figures of two outstanding orthopaedists Professor Stefan Malawski and Professor Jerzy Król rewarded with the medal of the name of Wiktor Degi were described. The medal is being granted by the Chapter of the Medal as regarding for outstanding achievements for the Polish and world orthopaedics and rehabilitation. Profesor Stefan Kazimierz Malawski was born 26. 12. 1920 in the Vilnius area. In Vilnius he stated his medical studies, which he continued in Lwow and graduated in 1946 at the Marie Curie Sk?odowska in Lublin. Professor Malawski's main field of interest were related to the problems related to tuberculosis of bones and joints and trauma of the lumbar and cervical spine. In the problems of bone tuberculosis he remains an unquestioned authority in Poland. His deep understanding of these clinical problems can be found in his text-book "Tuberculosis of bones and joints", which was printed in 1976. The information pertaining diagnosis and surgical treatment remain extremely valuable today. Another field of interest of Professor Malawski are pathologies of the spine. Disc disease, neoplasms of the spine, spinal stenosis and infections of the spine, spondylolisthesis are among many of his interests. This very wide field of interest can be dound in his 3 tome publication Spondyloorthopedics. His 166 papars printed in Poland and abroad bear proof of the Professors wide field of interest and deep knowledge. Professor Malawski was the first surgeon in Poland to perform surgery on the front elements of the spine in tuberculotic paraplegia. In 1958 he implemented surgical treatment of spine tumor--both primary and metastatic, by resecting them and stabilizing the spine with grafts. In the early 70's he focused on spinal stenosis. In the years 1982-1986 he was the Chairman of the Board of the Polish Orthopedic and Trauma Society. Professor Malawski introdued a modern set of Rules and Regulations, greatly simplifying the decision making process during General assemblies of the Society. Professor Malawski is undoubtedly a great successor to the active way of surgical thinking introduced by professor Adam Gruca. Professor Jerzy Król is among the greatest Polish orthopedic surgeons. He was born on 21st February 1926 in Baranowice (Nowogródek woiwodship). He graduated from high school in the underground schooling system during the Second World War, receiving his maturity exam in 1945 from the Konarski High Scool School of the Western Lands in Czestochowa. In 1945 the professor started his medical studies at Adam Mickiewicz University of Poznan, where he graduated in 1949. In 1950 he started his medical career in in Orthopedic Department of Poznan head by professor Wiktor Dega. Professor Król is the author of over 100 medical papers printed in national and international journals. His key fields of interest are congenital dislocation of the hip, hip arthroplasty, scoliosis and rehabilitaton and prosthesis problems. In 1968 he performed the first scoliosis correction with the Harrington rod in Poland as well as the implantation of the first McKee-Ferara hip prosthesis. He is the co-author of the text-book Orthopedics and Rehabilitation, Medical Rehabilitation and a number of WHO text books: Community Health Worker and Guide for prevention of Deformities in Poliomyelitis. He also took part in the publishing of the WHO text-book Rehabilitation Surgery, for which he received the Ministry of Health Award. He overlooked 7 Ph.D thesis and 4 papers qualifying for assistant professor. Between 1972 and 1995 professor Król worked as a WHO expert, as member of the Expert Committee for Rehabilitation. Between 1986-1987 head was the director of the Orthopedics and Rehabilitation Institute in Poznan. He resigned from this function due to his work with WHO in Madagaskar. After his return he was the head of the Orthopedic Department in Poznan University of Medical Sciennces until October 1996 when he retired. PMID:19241890

  9. Endovascular Repair of Descending Thoracic Aortic Aneurysm

    PubMed Central

    2005-01-01

    Executive Summary Objective To conduct an assessment on endovascular repair of descending thoracic aortic aneurysm (TAA). Clinical Need Aneurysm is the most common condition of the thoracic aorta requiring surgery. Aortic aneurysm is defined as a localized dilatation of the aorta. Most aneurysms of the thoracic aorta are asymptomatic and incidentally discovered. However, TAA tends to enlarge progressively and compress surrounding structures causing symptoms such as chest or back pain, dysphagia (difficulty swallowing), dyspnea (shortness of breath), cough, stridor (a harsh, high-pitched breath sound), and hoarseness. Significant aortic regurgitation causes symptoms of congestive heart failure. Embolization of the thrombus to the distal arterial circulation may occur and cause related symptoms. The aneurysm may eventually rupture and create a life-threatening condition. The overall incidence rate of TAA is about 10 per 100,000 person-years. The descending aorta is involved in about 30% to 40% of these cases. The prognosis of large untreated TAAs is poor, with a 3-year survival rate as low as 25%. Intervention is strongly recommended for any symptomatic TAA or any TAA that exceeds twice the diameter of a normal aorta or is 6 cm or larger. Open surgical treatment of TAA involves left thoracotomy and aortic graft replacement. Surgical treatment has been found to improve survival when compared with medical therapy. However, despite dramatic advances in surgical techniques for performing such complex operations, operative mortality from centres of excellence are between 8% and 20% for elective cases, and up to 50% in patients requiring emergency operations. In addition, survivors of open surgical repair of TAAs may suffer from severe complications. Postoperative or postprocedural complications of descending TAA repair include paraplegia, myocardial infarction, stroke, respiratory failure, renal failure, and intestinal ischemia. The Technology Endovascular aortic aneurysm repair (EVAR) using a stent graft, a procedure called endovascular stent-graft (ESG) placement, is a new alternative to the traditional surgical approach. It is less invasive, and initial results from several studies suggest that it may reduce mortality and morbidity associated with the repair of descending TAAs. The goal in endovascular repair is to exclude the aneurysm from the systemic circulation and prevent it from rupturing, which is life-threatening. The endovascular placement of a stent graft eliminates the systemic pressure acting on the weakened wall of the aneurysm that may lead to the rupture. However, ESG placement has some specific complications, including endovascular leak (endoleak), graft migration, stent fracture, and mechanical damage to the access artery and aortic wall. The Talent stent graft (manufactured by Medtronic Inc., Minneapolis, MN) is licensed in Canada for the treatment of patients with TAA (Class 4; licence 36552). The design of this device has evolved since its clinical introduction. The current version has a more flexible delivery catheter than did the original system. The prosthesis is composed of nitinol stents between thin layers of polyester graft material. Each stent is secured with oversewn sutures to prevent migration. Review Strategy Objectives To compare the effectiveness and cost-effectiveness of ESG placement in the treatment of TAAs with a conventional surgical approach To summarize the safety profile and effectiveness of ESG placement in the treatment of descending TAAs Measures of Effectiveness Primary Outcome Mortality rates (30-day and longer term) Secondary Outcomes Technical success rate of introducing a stent graft and exclusion of the aneurysm sac from systemic circulation Rate of reintervention (through surgical or endovascular approach) Measures of Safety Complications were categorized into 2 classes: Those specific to the ESG procedure, including rates of aneurysm rupture, endoleak, graft migration, stent fracture, and kinking; and Those due to the intervention, either surgical or endovascular. These in

  10. Results with an Algorithmic Approach to Hybrid Repair of the Aortic Arch

    PubMed Central

    Andersen, Nicholas D.; Williams, Judson B.; Hanna, Jennifer M.; Shah, Asad A.; McCann, Richard L.; Hughes, G. Chad

    2013-01-01

    Objective Hybrid repair of the transverse aortic arch may allow for aortic arch repair with reduced morbidity in patients who are suboptimal candidates for conventional open surgery. Here, we present our results with an algorithmic approach to hybrid arch repair, based upon the extent of aortic disease and patient comorbidities. Methods Between August 2005 and January 2012, 87 patients underwent hybrid arch repair by three principal procedures: zone 1 endograft coverage with extra-anatomic left carotid revascularization (zone 1, n=19), zone 0 endograft coverage with aortic arch debranching (zone 0, n=48), or total arch replacement with staged stented elephant trunk completion (stented elephant trunk, n=20). Results The mean patient age was 64 years and the mean expected in-hospital mortality rate was 16.3% as calculated by the EuroSCORE II. 22% (n=19) of operations were non-elective. Sternotomy, cardiopulmonary bypass, and deep hypothermic circulatory arrest were required in 78% (n=68), 45% (n=39), and 31% (n=27) of patients, respectively, to allow for total arch replacement, arch debranching, or other concomitant cardiac procedures, including ascending ± hemi-arch replacement in 17% (n=8) of patients undergoing zone 0 repair. All stented elephant trunk procedures (n=20) and 19% (n=9) of zone 0 procedures were staged, with 41% (n=12) of patients undergoing staged repair during a single hospitalization. The 30-day/in-hospital rates of stroke and permanent paraplegia/paraparesis were 4.6% (n=4) and 1.2% (n=1), respectively. Three of 27 (11.1%) patients with native ascending aorta zone 0 proximal landing zone experienced retrograde type A dissection following endograft placement. The overall in-hospital mortality rate was 5.7% (n=5), however, 30-day/in-hospital mortality increased to 14.9% (n=13) due to eight 30-day out-of-hospital deaths. Native ascending aorta zone 0 endograft placement was found to be the only univariate predictor of 30-day/in-hospital mortality (odds ratio, 4.63; 95% confidence interval, 1.35-15.89; P=0.02). Over a mean follow-up of 28.5 ± 22.2 months, 13% (n=11) of patients required reintervention for type 1A (n=4), type 2 (n=6), or type 3 (n=1) endoleak. Kaplan-Meier estimates of survival at 1, 3, and 5 years were 73%, 60%, and 51%, respectivel. Conclusions Hybrid aortic arch repair can be tailored to patient anatomy and comorbid status to allow complete repair of aortic pathology, frequently in a single stage, with acceptable outcomes. However, endograft placement in the native ascending aorta is associated with high rates of retrograde type A dissection and 30-day/in-hospital mortality and should be approached with caution. PMID:23186868