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Sample records for complete paraplegia rationale

  1. Complete paraplegia resulting from surfer's myelopathy.

    PubMed

    Takakura, Tomokazu; Yokoyama, Osamu; Sakuma, Fujiko; Itoh, Ryousuke; Romero, Ray R

    2013-09-01

    Three patients with diagnoses of surfer's myelopathy (24-31 yrs old; two men, one woman) were admitted to our rehabilitation hospital. All three patients were novice surfers and had a typical clinical course of onset: rapid progression of paraplegia after back pain while taking surfing lessons. Despite months of rehabilitation at our hospital, in all three patients, complete paraplegia (T9-T12) and bladder-bowel dysfunction remained. Our case profiles suggest that the neurologic outcome of surfer's myelopathy is potentially catastrophic, as has been suggested in previous reports. Surfer's myelopathy has been estimated to be an ischemic thoracic myelopathy. From our case profiles and review of the literature, not only the prolonged prone hyperextended posture of paddling but also the repetitive mechanical stress caused by flexion-extension of the spinal column may be related to its pathogenesis. To prevent surfer's myelopathy and to avoid progressive deterioration of neurologic function, increased education and awareness are essential.

  2. Body composition of women and men with complete motor paraplegia.

    PubMed

    Beck, Lisa A; Lamb, Jeffry L; Atkinson, Elizabeth J; Wuermser, Lisa-Ann; Amin, Shreyasee

    2014-07-01

    To examine body composition, including the relationship between body mass index (BMI) and total body fat, in women and men with complete motor paraplegia and to make comparisons with able-bodied controls. In 13 subjects with traumatic, complete motor paraplegia (six women, seven men) and 39 sex-, age-, and BMI-matched controls from the community (18 women, 21 men), we measured total and regional (upper extremities, trunk, and lower extremities) lean and fat mass using total body dual-energy X-ray absorptiometry. Both women and men with paraplegia had significantly lower lean mass in their lower extremities, as would be expected, and in their total body when compared with controls. However, they had significantly greater lean mass in their upper extremities than controls (4.4 kg vs. 3.6 kg, P = 0.004 and 8.6 kg vs. 6.7 kg, P < 0.001 in women and men, respectively); all subjects with paraplegia studied used manual wheelchairs. Although total body fat mass was significantly greater in women (P = 0.010) and men (P = <0.001) with paraplegia compared with controls, for the equivalent total body fat mass, BMI was actually lower in women and men with paraplegia than controls (e.g. 20.2 kg/m² vs. 25.0 kg/m², respectively). We report on body composition in persons with complete motor paraplegia, including women on whom limited information is currently available. Our results support the need to define better assessments of obesity in both women and men following spinal cord injury, particularly of central body fat distribution, as BMI underestimates adiposity in this population.

  3. Body composition of women and men with complete motor paraplegia

    PubMed Central

    Beck, Lisa A.; Lamb, Jeffry L.; Atkinson, Elizabeth J.; Wuermser, Lisa-Ann; Amin, Shreyasee

    2014-01-01

    Objectives To examine body composition, including the relationship between body mass index (BMI) and total body fat, in women and men with complete motor paraplegia and to make comparisons with able-bodied controls. Methods In 13 subjects with traumatic, complete motor paraplegia (six women, seven men) and 39 sex-, age-, and BMI-matched controls from the community (18 women, 21 men), we measured total and regional (upper extremities, trunk, and lower extremities) lean and fat mass using total body dual-energy X-ray absorptiometry. Results Both women and men with paraplegia had significantly lower lean mass in their lower extremities, as would be expected, and in their total body when compared with controls. However, they had significantly greater lean mass in their upper extremities than controls (4.4 kg vs. 3.6 kg, P = 0.004 and 8.6 kg vs. 6.7 kg, P < 0.001 in women and men, respectively); all subjects with paraplegia studied used manual wheelchairs. Although total body fat mass was significantly greater in women (P = 0.010) and men (P = <0.001) with paraplegia compared with controls, for the equivalent total body fat mass, BMI was actually lower in women and men with paraplegia than controls (e.g. 20.2 kg/m2 vs. 25.0 kg/m2, respectively). Conclusion We report on body composition in persons with complete motor paraplegia, including women on whom limited information is currently available. Our results support the need to define better assessments of obesity in both women and men following spinal cord injury, particularly of central body fat distribution, as BMI underestimates adiposity in this population. PMID:24090208

  4. Clinical experience of functional electrical stimulation in complete paraplegia.

    PubMed

    Shimada, Y; Sato, K; Abe, E; Kagaya, H; Ebata, K; Oba, M; Sato, M

    1996-10-01

    Percutaneous intramuscular electrodes and a portable multichannel system were used to restore the function of the paralyzed lower extremities in six patients with complete paraplegia. The total number of inserted electrodes was 168. All of the patients could stand, two could walk in parallel bars, and two could walk with a walker. The rate of breakage of electrodes was only 0.6% in our series. There were 10 (6.0%) superficial infections, and 10 (6.0%) movement of electrodes which required reimplantation. The results suggest that the ultrafine intramuscular electrode is practical for long term use with paraplegic patients. Although the system can be used for paraplegic patients during the activities of daily living, it will be necessary to develop a closed-loop controller to reduce the amount of stimulation to the extensor muscles and extend the endurance of upright activity to reduce fatigue.

  5. Functional neuromuscular stimulation in 4 patients with complete paraplegia.

    PubMed

    Hjeltnes, N; Lannem, A

    1990-05-01

    The effect of functional neuromuscular stimulation (FNS) on muscle strength and endurance was studied in 3 patients with long-standing complete injuries (T7-T12) and in 1 patient with a recent complete injury (T5). All 4 patients became strong enough to rise, stand and to walk a few steps within parallel bars. However, only 1 patient was able to walk without parallel bars (60 m). The energy demand of FNS-assisted walking was measured to be more than 60% of the maximal endurance capacity of this patient. This finding partly explains the low patient acceptance of FNS.

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

    PubMed

    Kagaya, H; Shimada, Y; Ebata, K; Sato, M; Sato, K; Yukawa, T; Obinata, G

    1995-09-01

    Restoration of stand-up motion in patients with complete paraplegia utilizing multichannel functional electrical stimulation, and analysis of the restored motion. Nonrandomized control trial. General community, a referral center, institutional practice, and ambulatory care: Twelve volunteer samples were used for the collection of normal data. Two complete paraplegics received treatment for the restoration of stand-up motion. The electromyogram, joint angle, and floor reaction force were investigated during standing-up with arms crossed in front of the chest, and hands-assisted standing-up using parallel bars. The maximum knee joint torque during standing-up without hands-assists was calculated using a three-segment link model. Standing-up motion in complete paraplegics was restored, and then analyzed using the three-dimensional floor reaction force and the hip, knee, and ankle angles. Main muscles used to stand up were the quadriceps, tibialis anterior, and paraspinal muscles. Hands-assists reduced the muscle activity and the vertical floor reaction force. Peak muscle activity was less during hands-assisted standing-up, except for the rectus femoris and the iliopsoas muscle. The maximum knee joint torque during standing-up was 1.6Nm/kg for both knees. Two complete paraplegics were able to stand up smoothly from a wheelchair based on stimulation data obtained from normal subjects. The characteristic pattern during standing-up was knee flexion preceding extension. Stand-up motion was restored utilizing electromyogram data and knee joint torque data from normal subjects.

  7. Significant recovery of motor function in a patient with complete T7 paraplegia receiving etanercept.

    PubMed

    Dinomais, Mickaël; Stana, Laura; Egon, Guy; Richard, Isabelle; Menei, Philippe

    2009-03-01

    To report an unusual case of significant motor recovery in a patient with T7 complete paraplegia treated with etanercept for ankylosing spondylitis. Case report. During the first year sensory-motor recovery occurred, and the American Spinal Injury Association Impairment Scale (AIS) improved from A to D. Initial spinal cord injury is a direct consequence of the trauma. It triggers a series of molecular and cellular reactions leading to "secondary damage". Tumour necrosis factor alpha is a key inflammatory mediator that is increasingly expressed after spinal cord injury. Etanercept is a recombinant dimer of human tumour necrosis factor alpha receptor protein that inhibits tumour necrosis factor alpha activity. It has shown an immunomodulatory effect in mice after traumatic spinal cord injury. It significantly reduced the post-traumatic spinal cord inflammation and the perilesional area. In this case, a reduction in the secondary damage, due to etanercept treatment could explain the significant motor recovery, which is unusual since 80% of AIS A lesions remain complete.

  8. Acute spontaneous spinal subdural haematoma presenting as paraplegia and complete recovery with non-operative treatment

    PubMed Central

    Al, Behçet; Yildirim, Cuma; Zengin, Suat; Genc, Sinan; Erkutlu, Ibrahim; Mete, Ahmet

    2009-01-01

    Spontaneous spinal subdural haematoma (SSDH) with no underlying pathology is a very rare condition. Only 20 cases have been previously reported. It can be caused by abnormalities of coagulation, blood dyscrasia, or trauma, underlying neoplasm, and arteriovenous malformation. It occurs most commonly in the thoracic spine and presents with sudden back pain radiating to the arms, legs or trunk, and varying degrees of motor, sensory, and autonomic disturbances. Although the main approach to management is surgical decompression, conservative management is used as well. We report the case of a 57-year-old man who presented with sudden severe low back pain followed by rapid onset of complete paraplegia. Magnetic resonance imaging (MRI) revealed an anterior subdural haematoma from T9 to L1 with cord compression. Corticosteroid treatment was administered. The patient showed substantial clinical improvement after 7 days of bed rest and an intense rehabilitation programme. An MRI scan and a computed tomography angiogram did not reveal any underlying pathology to account for the subdural haematoma. PMID:22065983

  9. Rapid Neurological Recovery Following Partial Surgical Resection of Spinal Glioblastoma Multiforme in a Pediatric Patient Presenting With Complete Paraplegia.

    PubMed

    Friedman, Gabriel N; Grannan, Benjamin L; Yanamadala, Vijay; Shankar, Ganesh M; Dewitt, John C; Puthenpura, Vidya; Koffie, Robert M; Macdonald, Shannon M; Ebb, David H; Frosch, Matthew P; Duhaime, Ann-Christine

    2016-11-01

    Pediatric spinal cord glioblastoma multiforme is a rare entity with a poor prognosis often presenting with lower extremity weakness or paralysis. Previous literature suggests that aggressive surgical resection may provide overall survival benefit; however, there is limited concurrent analysis demonstrating neurological recovery following surgical resection. We report the case of a 9-year-old boy who presented with complete paraplegia and regained the ability to ambulate independently following subtotal surgical resection, radiation, and chemotherapy. The case demonstrates the balance between meaningful neurological recovery and overall survival when deciding on the extent of resection in cases of pediatric spinal glioblastoma multiforme.

  10. Feasibility for developing cardiovascular exercise recommendations for persons with motor-complete paraplegia based on manual wheelchair propulsion; A protocol and preliminary data.

    PubMed

    McCormick, Zachary L; Lynch, Meaghan; Liem, Brian; Jacobs, Geneva; Hwang, Peter; Hornby, Thomas George; Rydberg, Leslie; Roth, Elliot

    2016-01-01

    The Center for Disease Control, American Heart Association, and American College of Sports Medicine recommendations for duration and intensity of exercise are based on the amount of energy expenditure required to maintain cardiovascular health in able body individuals; 1000 Kilocalories (Kcals) per week of energy expenditure has been demonstrated to achieve this effect. Manual wheelchair propulsion (MWP) represents a practical and accessible form of exercise for individuals with paraplegia. To describe a method to determine the duration of MWP required to expend 1000 Kcals, when performed by individuals with paraplegia due to motor-complete spinal cord injury (SCI). Cross-sectional study. Rehabilitation Research Laboratory. Sixteen adults with motor complete T3-T12 paraplegia (body mass index < 35, duration of paraplegia > 3 months). Not applicable. Indirect calorimetry during MWP was measured in order to calculate caloric expenditure per minute. These data were used to calculate the number of minutes of MWP required to expend 1000 Kcal in one week. During MWP, participants expended 3.3 ± 1.0 Kcal/minute. Based on this figure, 1000 Kcal of energy expenditure in one week would require 303 minutes of MWP per week, or 43.3 minutes per day, 7 days per week. Our data suggest that it is feasible to create a practical and accessible exercise recommendation based on manual wheelchair propulsion for individuals with paraplegia due to motor-complete SCI. Larger studies are needed in order to develop accurate exercise recommendations for persons with SCI.

  11. An approach to personalized cell therapy in chronic complete paraplegia: The Puerta de Hierro phase I/II clinical trial.

    PubMed

    Vaquero, Jesús; Zurita, Mercedes; Rico, Miguel A; Bonilla, Celia; Aguayo, Concepcion; Montilla, Jesús; Bustamante, Salvador; Carballido, Joaquin; Marin, Esperanza; Martinez, Francisco; Parajon, Avelino; Fernandez, Cecilia; Reina, Laura De

    2016-08-01

    Cell transplantation in patients suffering spinal cord injury (SCI) is in its initial stages, but currently there is confusion about the results because of the disparity in the techniques used, the route of administration, and the criteria for selecting patients. We conducted a clinical trial involving 12 patients with complete and chronic paraplegia (average time of chronicity, 13.86 years; SD, 9.36). The characteristics of SCI in magnetic resonance imaging (MRI) were evaluated for a personalized local administration of expanded autologous bone marrow mesenchymal stromal cells (MSCs) supported in autologous plasma, with the number of MSCs ranging from 100 × 10(6) to 230 × 10(6). An additional 30 × 10(6) MSCs were administered 3 months later by lumbar puncture into the subarachnoid space. Outcomes were evaluated at 3, 6, 9 and 12 months after surgery through clinical, urodynamic, neurophysiological and neuroimaging studies. Cell transplantation is a safe procedure. All patients experienced improvement, primarily in sensitivity and sphincter control. Infralesional motor activity, according to clinical and neurophysiological studies, was obtained by more than 50% of the patients. Decreases in spasms and spasticity, and improved sexual function were also common findings. Clinical improvement seems to be dose-dependent but was not influenced by the chronicity of the SCI. Personalized cell therapy with MSCs is safe and leads to clear improvements in clinical aspects and quality of life for patients with complete and chronically established paraplegia. Copyright © 2016 International Society for Cellular Therapy. Published by Elsevier Inc. All rights reserved.

  12. Complete Immediate Paraplegia Reversal after Performing Aorto-Lumbar Bypass on the Patient who Underwent Aortoiliac Reconstruction.

    PubMed

    Banzic, Igor; Sladojevic, Milos; Ilic, Nikola; Koncar, Igor; Davidovic, Lazar; Brankovic, Milos

    2016-08-01

    Although both internal iliac arteries were saved during operation, the patient developed paraplegia immediately after aortoiliac reconstruction due to the spinal cord ischemia. We report a successfully treated immediate postoperative paraplegia by performing second operation and creating bypass from the bifurcated Dacron graft to the previously detected nonpaired huge lumbar artery. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Feasibility for developing cardiovascular exercise recommendations for persons with motor-complete paraplegia based on manual wheelchair propulsion; A protocol and preliminary data

    PubMed Central

    Lynch, Meaghan; Liem, Brian; Jacobs, Geneva; Hwang, Peter; Hornby, Thomas George; Rydberg, Leslie; Roth, Elliot

    2016-01-01

    Background The Center for Disease Control, American Heart Association, and American College of Sports Medicine recommendations for duration and intensity of exercise are based on the amount of energy expenditure required to maintain cardiovascular health in able body individuals; 1000 Kilocalories (Kcals) per week of energy expenditure has been demonstrated to achieve this effect. Manual wheelchair propulsion (MWP) represents a practical and accessible form of exercise for individuals with paraplegia. Objective To describe a method to determine the duration of MWP required to expend 1000 Kcals, when performed by individuals with paraplegia due to motor-complete spinal cord injury (SCI). Study Design Cross-sectional study. Setting Rehabilitation Research Laboratory. Participants Sixteen adults with motor complete T3-T12 paraplegia (body mass index < 35, duration of paraplegia > 3 months). Interventions Not applicable. Main Outcome Measures Indirect calorimetry during MWP was measured in order to calculate caloric expenditure per minute. These data were used to calculate the number of minutes of MWP required to expend 1000 Kcal in one week. Results During MWP, participants expended 3.3 ± 1.0 Kcal/minute. Based on this figure, 1000 Kcal of energy expenditure in one week would require 303 minutes of MWP per week, or 43.3 minutes per day, 7 days per week. Conclusions Our data suggest that it is feasible to create a practical and accessible exercise recommendation based on manual wheelchair propulsion for individuals with paraplegia due to motor-complete SCI. Larger studies are needed in order to develop accurate exercise recommendations for persons with SCI. PMID:25582138

  14. The effect of low-magnitude whole body vibration on bone density and microstructure in men and women with chronic motor complete paraplegia.

    PubMed

    Wuermser, Lisa-Ann; Beck, Lisa A; Lamb, Jeffry L; Atkinson, Elizabeth J; Amin, Shreyasee

    2015-03-01

    To examine the effect of low-magnitude whole body vibration on bone density and microstructure in women and men with chronic motor complete paraplegia. We studied nine subjects (four women and five men) with motor complete paraplegia of 2 years duration or more, age 20-50 years. Subjects were instructed to stand on a low-magnitude vibration plate within a standing frame for 20 minutes per day, 5 days a week, and for 6 months. Bone density at the proximal femur by dual-energy X-ray absorptiometry and bone microstructure at the distal tibia by high-resolution peripheral quantitative computed tomography were assessed at four timepoints over 12 months (baseline, at 3 months and 6 months while on intervention, and after 6 months off intervention). Standing on the low-magnitude vibration plate with a standing frame was well tolerated by participants. However, most subjects did not show an improvement in bone density or microstructure after 6 months of intervention, or any relevant changes 6 months following the discontinuation of the low-magnitude vibration. We were unable to identify an improvement in either bone density or microstructure following 6 months use of a low-magnitude vibration plate in women or men with chronic motor complete paraplegia. Longer duration of use may be necessary, or it is possible that this intervention is of limited benefit following chronic spinal cord injury.

  15. The effect of low-magnitude whole body vibration on bone density and microstructure in men and women with chronic motor complete paraplegia

    PubMed Central

    Wuermser, Lisa-Ann; Beck, Lisa A.; Lamb, Jeffry L.; Atkinson, Elizabeth J.; Amin, Shreyasee

    2015-01-01

    Objective To examine the effect of low-magnitude whole body vibration on bone density and microstructure in women and men with chronic motor complete paraplegia. Methods We studied nine subjects (four women and five men) with motor complete paraplegia of 2 years duration or more, age 20–50 years. Subjects were instructed to stand on a low-magnitude vibration plate within a standing frame for 20 minutes per day, 5 days a week, and for 6 months. Bone density at the proximal femur by dual-energy X-ray absorptiometry and bone microstructure at the distal tibia by high-resolution peripheral quantitative computed tomography were assessed at four timepoints over 12 months (baseline, at 3 months and 6 months while on intervention, and after 6 months off intervention). Results Standing on the low-magnitude vibration plate with a standing frame was well tolerated by participants. However, most subjects did not show an improvement in bone density or microstructure after 6 months of intervention, or any relevant changes 6 months following the discontinuation of the low-magnitude vibration. Conclusion We were unable to identify an improvement in either bone density or microstructure following 6 months use of a low-magnitude vibration plate in women or men with chronic motor complete paraplegia. Longer duration of use may be necessary, or it is possible that this intervention is of limited benefit following chronic spinal cord injury. PMID:24621040

  16. Hysterical paraplegia.

    PubMed Central

    Baker, J H; Silver, J R

    1987-01-01

    Between 1944 and 1984 20 patients were admitted to a spinal injuries centre with a diagnosis of traumatic paraplegia. They subsequently walked out and the diagnosis was revised to hysterical paraplegia. A further 23 patients with incomplete traumatic injuries, who also walked from the centre, have been compared with them as controls. The features that enabled a diagnosis of hysterical paraplegia to be arrived at were: They were predominantly paraplegic, There was a high incidence of previous psychiatric illness and employment in the Health Service or allied professions, Many were actively seeking compensation. The physical findings were a disproportionate motor paralysis, non anatomical sensory loss, the presence of downgoing plantar responses, normal tone and reflexes. They made a rapid total recovery. In contrast, the control traumatic cases showed an incomplete recovery and a persistent residual neurological deficit. Investigations apart from plain radiographs of the spinal column were not warranted, and the diagnosis should be possible on clinical grounds alone. PMID:3585346

  17. Energy Cost of Lower Body Dressing, Pop-Over Transfers, and Manual Wheelchair Propulsion in People with Paraplegia Due to Motor-Complete Spinal Cord Injury.

    PubMed

    Lynch, Meaghan M; McCormick, Zachary; Liem, Brian; Jacobs, Geneva; Hwang, Peter; Hornby, Thomas George; Rydberg, Leslie; Roth, Elliot J

    2015-01-01

    Energy required for able-bodied individuals to perform common activities is well documented, whereas energy associated with daily activities among people with spinal cord injury (SCI) is less understood. To determine energy expended during several basic physical tasks specific to individuals with paraplegia due to motor-complete SCI. Sixteen adults with motor-complete SCI below T2 level and duration of paraplegia greater than 3 months were included. Oxygen consumption (VO2), caloric expenditure, and heart rate were measured at rest and while participants performed lower body dressing (LBD), pop-over transfers (POTs), and manual wheelchair propulsion (MWP) at a self-selected pace. These data were used to calculate energy expenditure in standard metabolic equivalents (METs), as defined by 1 MET = 3.5 mL O2/kg/min, and in SCI METs using the conversion 1 SCI MET = 2.7 mL O2/kg/min. VO2 at rest was 3.0 ± 0.9 mL O2/kg/min, which equated to 0.9 ± 0.3 standard METs and 1.1 ± 0.4 SCI METs in energy expenditure. LBD required 3.2 ± 0.7 METs and 4.1 ± 0.9 SCI METs; POTs required 3.4 ± 1.0 METs and 4.5 ± 1.3 SCI METs; and MWP required 2.4 ± 0.6 METs and 3.1 ± 0.7 SCI METs. Resting VO2 for adults with motor-complete paraplegia is 3.0 mL O2/kg/min, which is lower than standard resting VO2 in able-bodied individuals. Progressively more energy is required to perform MWP, LBD, and POTs, respectively. Use of the standard METs formula may underestimate the level of intensity an individual with SCI uses to perform physical activities.

  18. Acute complete paraplegia of 8-year-old girl caused by spinal cord infarction following minor trauma complicated with longitudinal signal change of spinal cord.

    PubMed

    Nagata, Kosei; Tanaka, Yuji; Kanai, Hiroyuki; Oshima, Yasushi

    2017-05-01

    Spinal cord infarction followed by minor trauma in pediatric patients is rare and causes serious paralysis. Fibrocartilaginous embolism (FCE) is a possible diagnosis and there have been no consecutive magnetic resonance imaging (MRI) reports. Here, we report a case of an acute complete paraplegia with spinal cord infarction and longitudinal spinal cord signal change following minor trauma in an 8-year-old girl. An 8-year-old girl presented to our hospital emergency services with total paraplegia 2 h after she hit her back and neck after doing a handstand and falling down. She completely lost pain, temperature sensation, and a sense of vibration below her bilateral anterior thighs. Four hours later on MRI, the T2-weighted sequence showed no spinal cord compression or signal change in vertebral bodies. The patient was treated with rehabilitation after complete bed rest. A week after the trauma, the T2-weighted sequence indicated longitudinal extension of the lesion between T11 and C6 vertebral level with ring-shaped signal change. In addition, the diffusion-weighted MRI showed increased signal below C6 vertebral level. Two weeks after the trauma, we performed the T2 star sequence images, which showed minor bleeding at T11 vertebral area and spinal cord edema below C6. Four weeks after the trauma, MRI showed minor lesion at C6 vertebral level, but spinal cord atrophy was observed at T11 vertebral level without disc signal change. Thirteen weeks after the trauma, her cervical spinal cord became almost intact and severe atrophy of the spinal cord at T11 vertebral level. At 1 year following her injury, complete paraplegia remained with sensory loss below T11 level. Her clinical presentation, lack of evidence for other plausible diagnosis, and consecutive MRI findings made FCE at T11 vertebral level with pencil-shaped softening the most likely diagnosis. In addition, consecutive cervical MRI indicated minor cervical spinal cord injury. This Grand Round case highlights

  19. [Ataxias and hereditary spastic paraplegias].

    PubMed

    Schüle, R; Schöls, L

    2017-07-01

    Hereditary ataxias and spastic paraplegias are genetic disorders with age-dependent nearly complete penetrance. The mostly monogenetic etiology allows one to establish the diagnosis, study pathogenesis and to develop new causative therapeutic approaches for these diseases. Both the causative genes as well as the clinical presentation overlap considerably between hereditary ataxias and spastic paraplegias. This strongly argues towards a united classification for these two groups of diseases. Next generation sequencing technologies have greatly expanded the number of genes known to be causative for hereditary ataxias and spastic paraplegias and allow simultaneous time- and cost-effective diagnostic testing of > 200 genes. However, repeat expansions and large genomic deletions must be considered separately. Here, we suggest a pragmatic algorithm for genetic testing in hereditary ataxias and spastic paraplegias that we have developed in our specialized outpatient clinics. Detailed phenotyping remains crucial to interpret the multitude of genetic variants discovered by high throughput sequencing techniques. Despite recent technical advances, a substantial proportion of ataxia and spastic paraplegia families are still without a molecular diagnosis. Beside new and so far undetected ataxia and spasticity genes, unusual mutation types including noncoding variants and polygenic inheritance patterns may contribute. Because of these clinical, genetic, and technological challenges, patients with hereditary ataxias and spastic paraplegias should be referred to specialized centers offering research and clinical studies. This will also help to recruit representative patient cohorts for upcoming interventional trials.

  20. Paraplegia increases skeletal muscle autophagy

    PubMed Central

    Fry, Christopher S.; Drummond, Micah J.; Lujan, Heidi L.; DiCarlo, Stephen E.; Rasmussen, Blake B.

    2012-01-01

    INTRODUCTION Paraplegia results in significant skeletal muscle atrophy through increases in skeletal muscle protein breakdown. Recent work has identified a novel SIRT1-p53 pathway that is capable of regulating autophagy and protein breakdown. METHODS Soleus muscle was collected from 6 male Sprague-Dawley rats 10 weeks following complete T(4)-T(5) spinal-cord transection (paraplegia) and 6 male sham-operated rats (control). We utilized immunoblotting methods to measure intracellular proteins and qRT-PCR to measure the expression of skeletal muscle microRNAs. RESULTS SIRT1 protein expression was 37% lower, and p53 acetylation (LYS379) was increased in the paraplegia rats (P<0.05). Atg7 and Beclin-1, markers of autophagy induction, were elevated in paraplegia compared to controls (P<0.05). DISCUSSION Severe muscle atrophy resulting from chronic paraplegia appears to increase skeletal muscle autophagy independent of SIRT1 signaling. We conclude that chronic paraplegia may cause an increase in autophagic cell-death and negatively impact skeletal muscle protein balance. PMID:23055316

  1. Energy Cost of Lower Body Dressing, Pop-Over Transfers, and Manual Wheelchair Propulsion in People with Paraplegia Due to Motor-Complete Spinal Cord Injury

    PubMed Central

    McCormick, Zachary; Liem, Brian; Jacobs, Geneva; Hwang, Peter; Hornby, Thomas George; Rydberg, Leslie; Roth, Elliot J.

    2015-01-01

    Background: Energy required for able-bodied individuals to perform common activities is well documented, whereas energy associated with daily activities among people with spinal cord injury (SCI) is less understood. Objective: To determine energy expended during several basic physical tasks specific to individuals with paraplegia due to motor-complete SCI. Methods: Sixteen adults with motor-complete SCI below T2 level and duration of paraplegia greater than 3 months were included. Oxygen consumption (VO2), caloric expenditure, and heart rate were measured at rest and while participants performed lower body dressing (LBD), pop-over transfers (POTs), and manual wheelchair propulsion (MWP) at a self-selected pace. These data were used to calculate energy expenditure in standard metabolic equivalents (METs), as defined by 1 MET = 3.5 mL O2/kg/min, and in SCI METs using the conversion 1 SCI MET = 2.7 mL O2/kg/min. Results: VO2 at rest was 3.0 ± 0.9 mL O2/kg/min, which equated to 0.9 ± 0.3 standard METs and 1.1 ± 0.4 SCI METs in energy expenditure. LBD required 3.2 ± 0.7 METs and 4.1 ± 0.9 SCI METs; POTs required 3.4 ± 1.0 METs and 4.5 ± 1.3 SCI METs; and MWP required 2.4 ± 0.6 METs and 3.1 ± 0.7 SCI METs. Conclusion: Resting VO2 for adults with motor-complete paraplegia is 3.0 mL O2/kg/min, which is lower than standard resting VO2 in able-bodied individuals. Progressively more energy is required to perform MWP, LBD, and POTs, respectively. Use of the standard METs formula may underestimate the level of intensity an individual with SCI uses to perform physical activities. PMID:26364283

  2. Paraplegia increases skeletal muscle autophagy.

    PubMed

    Fry, Christopher S; Drummond, Micah J; Lujan, Heidi L; DiCarlo, Stephen E; Rasmussen, Blake B

    2012-11-01

    Paraplegia results in significant skeletal muscle atrophy through increases in skeletal muscle protein breakdown. Recent work has identified a novel SIRT1-p53 pathway that is capable of regulating autophagy and protein breakdown. Soleus muscle was collected from 6 male Sprague-Dawley rats 10 weeks after complete T4-5 spinal cord transection (paraplegia group) and 6 male sham-operated rats (control group). We utilized immunoblotting methods to measure intracellular proteins and quantitative real-time polymerase chain reaction to measure the expression of skeletal muscle microRNAs. SIRT1 protein expression was 37% lower, and p53 acetylation (LYS379) was increased in the paraplegic rats (P < 0.05). Atg7 and Beclin-1, markers of autophagy induction, were elevated in the paraplegia group compared with controls (P < 0.05). Severe muscle atrophy resulting from chronic paraplegia appears to increase skeletal muscle autophagy independent of SIRT1 signaling. We conclude that chronic paraplegia may cause an increase in autophagic cell death and negatively impact skeletal muscle protein balance. Copyright © 2012 Wiley Periodicals, Inc.

  3. Successful spinal cord stimulation for neuropathic below-level spinal cord injury pain following complete paraplegia: a case report.

    PubMed

    Reck, Tim A; Landmann, Gunther

    2017-01-01

    Neuropathic pain is common in patients with spinal cord injury (SCI) and often difficult to treat. We report a case where epidural spinal cord stimulation (SCS) below the level of injury has been successfully applied in a patient with a complete spinal cord lesion. A 53-year-old female presented with neuropathic below-level SCI pain of both lower legs and feet due to complete SCI below T5. Time and pain duration since injury was 2 years. Pain intensity was reported on numeric rating scale with an average of 7/10 (0 meaning no pain, 10 meaning the worst imaginable pain), but also with about 8-10 pain attacks during the day with an intensity of 9/10, which lasted between some minutes and half an hour. SCS was applied below the level of injury at-level T11-L1. After a successful 2 weeks testing period the pulse generator has been implanted permanently with a burst-stimulation pattern. The average pain was reduced to a bearable intensity of 4/10, in addition attacks could be reduced both in frequency and in intensity. This effects lasted for at least three months of follow-up. Even in case of complete SCI, SCS might be effective. Mechanisms of pain relief remain unclear. A modulation of suggested residual spinothalamic tract function may play a role. Further investigation has to be carried out to support this theory.

  4. Weight Bearing Over-ground Stepping in an Exoskeleton with Non-invasive Spinal Cord Neuromodulation after Motor Complete Paraplegia.

    PubMed

    Gad, Parag; Gerasimenko, Yury; Zdunowski, Sharon; Turner, Amanda; Sayenko, Dimitry; Lu, Daniel C; Edgerton, V Reggie

    2017-01-01

    We asked whether coordinated voluntary movement of the lower limbs could be regained in an individual having been completely paralyzed (>4 year) and completely absent of vision (>15 year) using two novel strategies-transcutaneous electrical spinal cord stimulation at selected sites over the spine as well as pharmacological neuromodulation by buspirone. We also asked whether these neuromodulatory strategies could facilitate stepping assisted by an exoskeleton (EKSO, EKSO Bionics, CA) that is designed so that the subject can voluntarily complement the work being performed by the exoskeleton. We found that spinal cord stimulation and drug enhanced the level of effort that the subject could generate while stepping in the exoskeleton. In addition, stimulation improved the coordination patterns of the lower limb muscles resulting in a more continuous, smooth stepping motion in the exoskeleton along with changes in autonomic functions including cardiovascular and thermoregulation. Based on these data from this case study it appears that there is considerable potential for positive synergistic effects after complete paralysis by combining the over-ground step training in an exoskeleton, combined with transcutaneous electrical spinal cord stimulation either without or with pharmacological modulation.

  5. Vertical ground reaction force-based analysis of powered exoskeleton-assisted walking in persons with motor-complete paraplegia.

    PubMed

    Fineberg, Drew B; Asselin, Pierre; Harel, Noam Y; Agranova-Breyter, Irina; Kornfeld, Stephen D; Bauman, William A; Spungen, Ann M

    2013-07-01

    To use vertical ground reaction force (vGRF) to show the magnitude and pattern of mechanical loading in persons with spinal cord injury (SCI) during powered exoskeleton-assisted walking. A cross-sectional study was performed to analyze vGRF during powered exoskeleton-assisted walking (ReWalk™: Argo Medical Technologies, Inc, Marlborough, MA, USA) compared with vGRF of able-bodied gait. Veterans Affairs Medical Center. Six persons with thoracic motor-complete SCI (T1-T11 AIS A/B) and three age-, height-, weight- and gender-matched able-bodied volunteers participated. SCI participants were trained to ambulate over ground using a ReWalk™. vGRF was recorded using the F-Scan™ system (TekScan, Boston, MA, USA). Peak stance average (PSA) was computed from vGRF and normalized across all participants by percent body weight. Peak vGRF was determined for heel strike, mid-stance, and toe-off. Relative linear impulse and harmonic analysis provided quantitative support for analysis of powered exoskeletal gait. Participants with motor-complete SCI, ambulating independently with a ReWalk™, demonstrated mechanical loading magnitudes and patterns similar to able-bodied gait. Harmonic analysis of PSA profile by Fourier transform contrasted frequency of stance phase gait components between able-bodied and powered exoskeleton-assisted walking. Powered exoskeleton-assisted walking in persons with motor-complete SCI generated vGRF similar in magnitude and pattern to that of able-bodied walking. This suggests the potential for powered exoskeleton-assisted walking to provide a mechanism for mechanical loading to the lower extremities. vGRF profile can be used to examine both magnitude of loading and gait mechanics of powered exoskeleton-assisted walking among participants of different weight, gait speed, and level of assist.

  6. Vertical ground reaction force-based analysis of powered exoskeleton-assisted walking in persons with motor-complete paraplegia

    PubMed Central

    Fineberg, Drew B.; Asselin, Pierre; Harel, Noam Y.; Agranova-Breyter, Irina; Kornfeld, Stephen D.; Bauman,, William A.; Spungen, Ann M.

    2013-01-01

    Objective To use vertical ground reaction force (vGRF) to show the magnitude and pattern of mechanical loading in persons with spinal cord injury (SCI) during powered exoskeleton-assisted walking. Research design A cross-sectional study was performed to analyze vGRF during powered exoskeleton-assisted walking (ReWalk™: Argo Medical Technologies, Inc, Marlborough, MA, USA) compared with vGRF of able-bodied gait. Setting Veterans Affairs Medical Center. Participants Six persons with thoracic motor-complete SCI (T1–T11 AIS A/B) and three age-, height-, weight- and gender-matched able-bodied volunteers participated. Interventions SCI participants were trained to ambulate over ground using a ReWalk™. vGRF was recorded using the F-Scan™ system (TekScan, Boston, MA, USA). Outcome measures Peak stance average (PSA) was computed from vGRF and normalized across all participants by percent body weight. Peak vGRF was determined for heel strike, mid-stance, and toe-off. Relative linear impulse and harmonic analysis provided quantitative support for analysis of powered exoskeletal gait. Results Participants with motor-complete SCI, ambulating independently with a ReWalk™, demonstrated mechanical loading magnitudes and patterns similar to able-bodied gait. Harmonic analysis of PSA profile by Fourier transform contrasted frequency of stance phase gait components between able-bodied and powered exoskeleton-assisted walking. Conclusion Powered exoskeleton-assisted walking in persons with motor-complete SCI generated vGRF similar in magnitude and pattern to that of able-bodied walking. This suggests the potential for powered exoskeleton-assisted walking to provide a mechanism for mechanical loading to the lower extremities. vGRF profile can be used to examine both magnitude of loading and gait mechanics of powered exoskeleton-assisted walking among participants of different weight, gait speed, and level of assist. PMID:23820147

  7. Weight Bearing through Lower Limbs in a Standing Frame with and without Arm Support and Low-Magnitude Whole Body Vibration in Men and Women with Complete Motor Paraplegia

    PubMed Central

    Bernhardt, Kathie A.; Beck, Lisa A.; Lamb, Jeffry L.; Kaufman, Kenton R.; Amin, Shreyasee; Wuermser, Lisa-Ann

    2014-01-01

    Objective To determine the proportion of body weight (BW) borne through the lower limbs in persons with complete, motor paraplegia using a standing frame, with and without support of their arms. We also examined the effect of low-magnitude whole body vibration on loads borne by the lower extremities. Design Vertical ground reaction forces (GRF) were measured in 11 participants (6 men and 5 women) with paraplegia of traumatic origin (injury level T3 to T12) standing on a low-magnitude vibrating plate using a standing frame. GRF were measured in four conditions: 1) no vibration with arms on standing frame tray; 2) no vibration with arms at side; 3) vibration with arms on tray; 4) vibration with arms at side. Results GRF with arms on tray, without vibration, was 0.76 ± 0.07 BW. With arms at the side, GRF increased to 0.85 ± 0.12 BW. With vibration, mean GRF did not significantly differ from no-vibration conditions for either arm positions. Oscillation of GRF with vibration was significantly different from no-vibration conditions (p<0.001) but similar in both arm positions. Conclusion Men and women with paraplegia using a standing frame bear the majority of their weight through their lower limbs. Supporting their arms on the tray reduces the GRF by ~10% BW. Low-magnitude vibration provided additional oscillation of the load-bearing forces and was proportionally similar regardless of arm position. PMID:22407161

  8. Weight bearing through lower limbs in a standing frame with and without arm support and low-magnitude whole-body vibration in men and women with complete motor paraplegia.

    PubMed

    Bernhardt, Kathie A; Beck, Lisa A; Lamb, Jeffry L; Kaufman, Kenton R; Amin, Shreyasee; Wuermser, Lisa-Ann

    2012-04-01

    The aim of the study was to determine the proportion of body weight borne through the lower limbs in persons with complete motor paraplegia using a standing frame, with and without the support of their arms. We also examined the effect of low-magnitude whole-body vibration on loads borne by the lower limbs. Vertical ground reaction forces (GRFs) were measured in 11 participants (six men and five women) with paraplegia of traumatic origin (injury level T3-T12) standing on a low-magnitude vibrating plate using a standing frame. GRFs were measured in four conditions: (1) no vibration with arms on standing frame tray, (2) no vibration with arms at side, (3) vibration with arms on tray, and (4) vibration with arms at side. GRF with arms on tray, without vibration, was 0.76 ± 0.07 body weight. With arms at the side, GRF increased to 0.85 ± 0.12 body weight. With vibration, mean GRF did not significantly differ from no-vibration conditions for either arm positions. Oscillation of GRF with vibration was significantly different from no-vibration conditions (P < 0.001) but similar in both arm positions. Men and women with paraplegia using a standing frame bear most of their weight through their lower limbs. Supporting their arms on the tray reduces the GRF by approximately 10% body weight. Low-magnitude vibration provided additional oscillation of the load-bearing forces and was proportionally similar regardless of arm position.

  9. Genetics Home Reference: spastic paraplegia type 8

    MedlinePlus

    ... Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling ... the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, ...

  10. Genetics Home Reference: spastic paraplegia type 2

    MedlinePlus

    ... Support and Advocacy Resources (4 links) National Ataxia Foundation National Organization for Rare Disorders (NORD): Hereditary Spastic Paraplegia RareConnect Spastic Paraplegia Foundation, Inc.: About Hereditary Spastic Paraplegia GeneReviews (2 links) ...

  11. Genetics Home Reference: spastic paraplegia type 4

    MedlinePlus

    ... Support and Advocacy Resources (4 links) National Ataxia Foundation National Organization for Rare Disorders (NORD): Hereditary Spastic Paraplegia RareConnect Spastic Paraplegia Foundation, Inc.: About Hereditary Spastic Paraplegia GeneReviews (2 links) ...

  12. [Paraplegia after acute thoracic pain].

    PubMed

    Kleinfeldt, T; Rehders, T C; Raab, U; Ince, H; Nienaber, C A

    2006-01-01

    Severe neurological complications such as spinal cord ischemia and paraplegia can occur with acute aortic dissection in 3%. This report describes the case of a 67-year old patient with delayed onset of paraplegia 8 h after acute chest pain. Contrast enhanced computed tomography documented Stanford type B dissection confined to a short segment of the aorta. Furthermore, magnetic resonance imaging revealed intraspinal intraaxial hematoma of the myelon, which can explain the neurological complication. This case shows that even in the scenario of acute aortic dissection other mechanisms for paraplegia may be operational than dissection itself. Paraplegia in this case results from intramyelon bleeding preceding aortic dissection.

  13. Living with Paraplegia: Tensions and Contradictions

    ERIC Educational Resources Information Center

    O'Connor, Deborah L.; Young, Jenny M.; Saul, Megan Johnston

    2004-01-01

    Although it is well established that paraplegia results in dramatic lifestyle changes, little is understood about living in the community with paraplegia, especially from the perspective of the person with paraplegia. To develop insight into this experience, in-depth, personal interviews were conducted with seven individuals with paraplegia who…

  14. Living with Paraplegia: Tensions and Contradictions

    ERIC Educational Resources Information Center

    O'Connor, Deborah L.; Young, Jenny M.; Saul, Megan Johnston

    2004-01-01

    Although it is well established that paraplegia results in dramatic lifestyle changes, little is understood about living in the community with paraplegia, especially from the perspective of the person with paraplegia. To develop insight into this experience, in-depth, personal interviews were conducted with seven individuals with paraplegia who…

  15. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

    PubMed

    de Souza, Paulo Victor Sgobbi; de Rezende Pinto, Wladimir Bocca Vieira; de Rezende Batistella, Gabriel Novaes; Bortholin, Thiago; Oliveira, Acary Souza Bulle

    2017-04-01

    Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. Likewise, a wide group of neurological acquired and inherited disorders should be included in the differential diagnosis and properly excluded after a complete laboratorial, neuroimaging, and genetic evaluation. The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).

  16. Spontaneous acute hemorrhage of intraspinal canal cellular schwannoma with paraplegia: A case report.

    PubMed

    Zhang, Heng-Zhu; Li, Yuping; Han, Yang; Wang, Xiaodong; She, Lei; Yan, Zhengcun; Dong, Lun

    2015-06-01

    Cellular schwannoma, an unusual histological subtype of schwannoma, is a benign hypercellular variant of a peripheral nerve sheath tumor. We report a 48-year-old woman with sudden onset of paraplegia. The complete surgical resection was achieved. This is the first report about intraspinal canal cellular schwannoma following spontaneous acute hemorrhage and paraplegia.

  17. Effect of Epidural stimulation of the lumbosacral spinal cord on voluntary movement, standing, and assisted stepping after motor complete paraplegia: a case study

    PubMed Central

    Harkema, Susan; Gerasimenko, Yury; Hodes, Jonathan; Burdick, Joel; Angeli, Claudia; Chen, Yangsheng; Ferreira, Christie; Willhite, Andrea; Rejc, Enrico; Grossman, Robert G.; Edgerton, V. Reggie

    2011-01-01

    Summary Background Repeated periods of stimulation of the spinal cord and training seems to have amplified the ability to consciously control movement. Methods An individual three years post C7-T1 subluxation presented with a complete loss of clinically detectable voluntary motor function and partial preservation of sensation below the T1 cord segment. Following 170 locomotor training sessions, a 16-electrode array was surgically placed on the dura (L1-S1 cord segments) to allow for chronic electrical stimulation. After implantation and throughout stand retraining with epidural stimulation, 29 experiments were performed. Extensive stimulation combinations and parameters were tested to achieve standing and stepping. Findings Epidural stimulation enabled the human lumbosacral spinal circuitry to dynamically elicit full weight-bearing standing with assistance provided only for balance for 4·25 minutes in a subject with a clinically motor complete SCI. This occurred when using stimulation at parameters optimized for standing while providing bilateral load-bearing proprioceptive input. Locomotor-like patterns were also observed when stimulation parameters were optimized for stepping. In addition, seven months after implantation, the subject recovered supraspinal control of certain leg movements, but only during epidural stimulation. Interpretation Even after a severe low cervical spinal injury, the neural networks remaining within the lumbosacral segments can be reactivated into functional states so that it can recognize specific details of ensembles of sensory input to the extent that it can serve as the source of neural control. In addition, newly formed supraspinal input to this same lumbosacral segments can re-emerge as another source of control. Task specific training with epidural stimulation may have reactivated previously silent spared neural circuits or promoted plasticity. This suggests that these interventions could be a viable clinical approach for

  18. Genetics Home Reference: spastic paraplegia type 31

    MedlinePlus

    ... dominant MalaCards: spastic paraplegia 31 National Health Service (UK) Orphanet: Autosomal dominant spastic paraplegia type 31 Orphanet: ... and Advocacy Resources (5 links) Contact a Family (UK) National Organization for Rare Disorders (NORD): Hereditary Spastic ...

  19. Pott's spine and paraplegia.

    PubMed

    Gautam, M P; Karki, P; Rijal, S; Singh, R

    2005-01-01

    Spinal tuberculosis is usually secondary to lung or abdominal involvement and may also be the first manifestation of tuberculosis. Spinal tuberculosis (often called Pott's disease) is by definition, an advanced disease, requiring meticulous assessment and aggressive systemic therapy. Physicians should keep the diagnosis in mind, especially in a patient from a group with a high rate of tuberculosis infection. This review aims on updating the knowledge on spinal tuberculosis and its management. Skeletal involvement has been reported to occur in approximately 10% of all patents with extrapulmonary tuberculosis, and half of these patients develop infection within the spinal column. Symptoms of spinal tuberculosis are back pain, weakness, weight loss, fever, fatigue, and malaise. It is much more prone to develop neurological manifestation, paraplegia of varying degree. The palpation of spinous process in routine clinical examination is the most rewarding clinical method and is an invaluable measure for early recognition. Diagnosis of spinal tuberculosis is made on the basis of typical clinical presentation along with systemic constitutional manifestation and the evidence of past exposure to tuberculosis or concomitant visceral tuberculosis. Magnetic resonance imaging can define the extent of abscess formation and spinal cord compression. The diagnosis is confirmed through percutaneous or open biopsy of the spinal lesion. Surgery is necessary as an adjunct to antibiotic therapy if the vertebral infection produces an abscess, vertebral collapse, or neurologic compression. Some patents need aggressive supportive care owing to tuberculous meningitis or encephalopathy. Moreover, the importance of immediate commencement of appropriate treatment and its continuation for adequate duration along with the proper counseling of the patient and family members should not be underestimated for successful and desired outcome.

  20. Genetics Home Reference: spastic paraplegia type 5A

    MedlinePlus

    ... of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle ... and severe weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: ...

  1. Late neurological recovery of paraplegia after endovascular repair of an infected thoracic aortic aneurysm.

    PubMed

    Mees, Barend M E; Bastos Gonçalves, Frederico; Koudstaal, Peter J; Verhagen, Hence J M

    2013-02-01

    Spinal cord ischemia is a potentially devastating complication after thoracic endovascular aorta repair (TEVAR). Patients with spinal cord ischemia after TEVAR often develop paraplegia, which is considered irreversible, and have significant increased postoperative morbidity and mortality. We report the case of a patient with unusual late complete neurologic recovery of acute-onset paraplegia after TEVAR for an infected thoracic aortic aneurysm. Copyright © 2013 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.

  2. Posterior-only vertebral column resection for revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia

    PubMed Central

    Tao, Youping; Wu, Jigong; Ma, Huasong

    2017-01-01

    Abstract Rationale: Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure. Patient concerns and diagnoses: The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia. He underwent posterior total laminectomy through the thoracic spine for intramedullary spinal cord tumors at the age of 3 years in another hospital. He then developed kyphosis deformity 1 year after laminectomy, and underwent posterior spinal fusion without instrumentation at 9 years of age. However, the deformity gradually progressed over the years. Seven months before admission to our hospital, he developed a significant progression of neurological deficits, including weakness of strength and sensation in lower extremities bilaterally, with no bladder or bowel dysfunction. There was no improvement of spinal cord function with conservative measures, and he required a wheelchair for movement. Interventions: The patient underwent posterior-only VCR by single stage with the purposes of spinal cord decompression and spinal deformity correction. Outcomes: Postoperatively, he was transferred to the intensive care unit (ICU) and required positive pressure ventilation support to improve his respiratory condition. The child experienced cerebrospinal fluid leak (CSF) which resulted in an unplanned return to the operating room. The neurological function improved from preoperative Frankel C to Frankel D within 12 months of surgery, and recovered completely to Frankel E by 18 months. At the 24 month follow-up, the good neurological function was maintained; pulmonary function tests (PFTs) revealed improved forced vital capacity (FVC) and forced expiratory volume for 1 second (FEV1). The patient

  3. Problems and perspectives in paraplegia

    NASA Technical Reports Server (NTRS)

    Nashold, B.

    1974-01-01

    Improved clinical treatment of the paraplegic, developed during World War II, has reduced the overall mortality rate from close to 100 percent to 30 percent. Despite major clinical improvements, mainly in treatment of the acute phase of paraplegia, and despite greater rehabilitation efforts, the spinal injured person is never rehabilitated in the sense that he reaches an optimum and stays there. He is always exposed to the constant threat of deterioration of his physiological, sociological, and psychological state.

  4. Problems and perspectives in paraplegia

    NASA Technical Reports Server (NTRS)

    Nashold, B.

    1974-01-01

    Improved clinical treatment of the paraplegic, developed during World War II, has reduced the overall mortality rate from close to 100 percent to 30 percent. Despite major clinical improvements, mainly in treatment of the acute phase of paraplegia, and despite greater rehabilitation efforts, the spinal injured person is never rehabilitated in the sense that he reaches an optimum and stays there. He is always exposed to the constant threat of deterioration of his physiological, sociological, and psychological state.

  5. Preimpregnated, fiber-reinforced prostheses. Part I. Basic rationale and complete-coverage and intracoronal fixed partial denture designs.

    PubMed

    Freilich, M A; Duncan, J P; Meiers, J C; Goldberg, A J

    1998-11-01

    This is the first of two articles describing the development and use of a continuous fiber-reinforced composite as a framework for the fabrication of fixed partial dentures and splints. The chemical composition and physical structure of the fiber-reinforced composite, along with the progression and development of a variety of fiber-reinforced composite materials, are discussed. Criteria for case selection, tooth preparation, and the clinical and laboratory procedures required for partial- or complete-coverage fixed partial denture fabrication and delivery are described.

  6. Hybrid Treatment of Acute Abdominal Aortic Thrombosis Presenting with Paraplegia.

    PubMed

    Azzarone, Matteo; De Troia, Alessandro; Iazzolino, Luigi; Nabulsi, Bilal; Tecchio, Tiziano

    2016-05-01

    Acute thrombotic or embolic occlusion of the abdominal aorta is a rare vascular emergency associated with high morbidity and mortality rates. Classically, the clinical presentation is a severe peripheral ischemia with bilateral leg pain as the predominant feature. Aortic occlusion presenting as an isolated acute onset of paraplegia due to spinal cord ischemia is very rare and requires improved awareness to prevent adverse outcomes associated with delayed diagnosis. We report the case of a 54-year-old man who presented with sudden paraplegia due to the thrombotic occlusion of the infrarenal aorta involving the first segment of the common iliac arteries on both sides; emergent transperitoneal aorto iliac thrombectomy combined with the endovascular iliac kissing-stent technique were performed achieving perioperative complete regression of the symptoms. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Fluorosis... causing paraplegia... mutilating life...

    PubMed

    Ahsan, Tasnim; Jabeen, Rakhshanda; Hashim, Saba; Bano, Zeenat; Ghafoor, Subheen

    2016-02-01

    Fluorosis is thought to be rare in Pakistan but endemic in various parts of the world, especially in India and China. In Pakistan only a few cases have been reported from Thar, Sibbi and Manga Mandi, with probability of fluorosis on MRI findings, supported by high drinking waterfluoride content. Neurological manifestations of skeletal fluorosis may vary from radiculo-myelopathy to neuropathy. A case of 26 years old female from Thul, Sindh, who presented with paraplegia, is reported here. Her MRI showed extensive classical degenerative changes throughout the spine, consistent with fluorosis, leading to cord compression at multiple levels. No such case with confirmed fluorosis has been previously reported from Pakistan.

  8. Hypokalemic paraplegia in pregnancy.

    PubMed

    Kulkarni, Maitri; Tv, Srividya; Gopal, N

    2014-06-01

    Hypokalemic myopathy may range from numbness/weakness to complete paralysis. The aetiology may be congenital or acquired. It is characterized by acute muscular weakness with low levels of potassium (<3.5 meq/L). We present a case of 26-year-old multigravida at 36 weeks of gestation with gestational hypertension on treatment, who came with acute onset of pain, numbness and weakness of both legs which worsened following betamethasone injection. She was diagnosed to have Hypokalemic paralysis with potassium levels of 2.1 meq/L. The medical profile remitted promptly on intravenous potassium replacement. Pregnancy was continued till 37 weeks with oral potassium supplements, antihypertensives and regular monitoring of serum potassium levels. The pregnancy was terminated after 37 weeks in view of gestational hypertension. Postpartum period was uneventful, patient was discharged after two weeks when potassium levels and BP returned to normal.

  9. Hypokalemic Paraplegia in Pregnancy

    PubMed Central

    TV, Srividya; Gopal, N

    2014-01-01

    Hypokalemic myopathy may range from numbness/weakness to complete paralysis. The aetiology may be congenital or acquired. It is characterized by acute muscular weakness with low levels of potassium (<3.5 meq/L). We present a case of 26-year-old multigravida at 36 weeks of gestation with gestational hypertension on treatment, who came with acute onset of pain, numbness and weakness of both legs which worsened following betamethasone injection. She was diagnosed to have Hypokalemic paralysis with potassium levels of 2.1 meq/L. The medical profile remitted promptly on intravenous potassium replacement. Pregnancy was continued till 37 weeks with oral potassium supplements, antihypertensives and regular monitoring of serum potassium levels. The pregnancy was terminated after 37 weeks in view of gestational hypertension. Postpartum period was uneventful, patient was discharged after two weeks when potassium levels and BP returned to normal. PMID:25121034

  10. A rare case of paraplegia complicating a lumbar epidural infiltration.

    PubMed

    Thefenne, L; Dubecq, C; Zing, E; Rogez, D; Soula, M; Escobar, E; Defuentes, G; Lapeyre, E; Berets, O

    2010-11-01

    We report the case of a patient who developed paraplegia following a low lumbar epidural steroid injection. Alternative approaches to (or alternative means of) performing transforaminal injections should be considered, in order to avoid devastating neurological complications. A 54-year-old man (who had undergone surgery 14 years earlier to cure an L5-S1 slipped disc with right S1 radiculopathy) presented with low back pain (which had begun 6 weeks previously) and left S1 radiculopathy. During a second infiltration of prednisolone acetate, the patient reported feeling a heat sensation in his legs and concomitantly developed facial flushing. Immediately after the injection, the patient developed complete, flaccid T7 ASIA A motor and sensory paraplegia. Three days later, T2 magnetic resonance imaging (MRI) of the spine revealed a spontaneous hypersignal in the conus medullaris and from T6 to T9, suggesting medullary ischemia. Recovery has been slow; after 4 months of treatment in a physical and rehabilitation medicine department, urinary and sensory disorders are still present (T7 ASIA D paraplegia). The patient can walk 200 m unaided. Three months later, the MRI data had not changed. This is a rare case report of paraplegia following low lumbar epidural infiltration via an interlaminar route. The mechanism is not clear. Most of authors suggest that the pathophysiological basis of this type of complication is ischemia caused by accidental interruption of the medullary blood supply. Direct damage to a medullary artery, arterial spasm or corticosteroid-induced occlusion due to undetected intra-arterial injection could result in medullary infarction. This serious incident should prompt us to consider how to avoid further problems in the future. It also raises the issue of providing patients with information on the risks inherent in this type of procedure. Despite the rarity of this complication, patients should be made aware of its potential occurrence. In the case

  11. [Paraplegia due to adhesive arachnoiditis. A case report].

    PubMed

    Rodríguez Luna, José Guadalupe; Sandoval Sánchez, Víctor; Benavides Rodríguez, David; Olivares Camacho, Jorge L; Taboada, Jesús B

    2009-01-01

    Various conditions of the spinal column occur at the lumbar level and new therapeutic surgical techniques have been applied to reduce the length of hospital stay, contribute to a quick return of patients to their activities of daily living, and reduce the postoperative limitations. However, a silent complication, adhesive arachnoiditis, has been reported with a frequency of 6-16% in cases undergoing lumbar surgery or with a history of revision surgery, and thus a second complication may occur, paraplegia, since the common symptom of arachnoiditis is persistent low back pain. The case of a 40-year-old patient is presented herein, who underwent lumbar spine surgery for herniated discs, and developed adhesive arachnoiditis involving the cauda equina, which was diagnosed with MRI. He had irreversible paraplegia with diffuse involvement of the cauda equina despite the mechanical lavage and surgical debridement performed due to the persistence of serous fluid discharge from the wound. The interbody implant placed during the first surgery was removed and the treatment was completed with posterior stabilization reinstrumentation; the patient had persistent neurologic impairment. There are few reports in the world literature of paraplegia due to non-infectious adhesive arachnoiditis. The remaining reports of paraplegia have been in patients with spinal infection, such as HIV-TB, mycosis, brucellosis or meningeal hemorrhage. It is not easy for patients to understand the very likely irreversible neurologic lesion of his complication. However, it is important for the spine surgeon to bear in mind the occurrence and frequency of adhesive arachnoiditis which could lead to irreversible neurologic deficit in patients undergoing lumbar spine surgery.

  12. Effects of resistance and endurance training in persons with paraplegia.

    PubMed

    Jacobs, Patrick L

    2009-05-01

    The specific effects of resistance and endurance training on upper extremity work capacity, muscular strength, and anaerobic power in chronic survivors of paraplegia have not been previously determined. This study compared the effects of 12 wk of endurance training (ET) with 12 wk of resistance training (RT) on VO(2peak), upper extremity strength, and power output in persons with chronic paraplegia. Eighteen subjects with neurologically complete paraplegia, T6-T10, participated in three weekly exercise sessions during a 12-wk training period. Subjects were matched into pairs (body mass and gender) and were randomly assigned to ET or RT. The ET group performed 30 min of arm cranking at 70%-85% of HR(peak). The RT group performed three sets of 10 repetitions at six exercise stations with an intensity of ranging from 60% to 70% of 1 repetition maximum (1RM). Values of upper extremity strength (1RM) were established using the Mayhew regression equation. VO(2peak) was determined during arm ergometry testing using open circuit spirometry. Arm Wingate anaerobic testing (WAnT) was used to determine subjects' peak and mean anaerobic power output. VO(2peak) values were significantly greater after RT (15.1%) and ET (11.8%). Muscular strength significantly increased for all exercise maneuvers in the RT group (P values < 0.01) with no changes detected in the ET group. Mean WAnT power increased in the RT and ET groups by 8% and 5%, respectively. The RT group displayed significantly greater gains in peak WAnT power (P < 0.001) than ET, 15.6% and 2.6%, respectively. Persons with paraplegia can significantly improve their upper extremity work capacity, muscular strength, and power by participating in RT.

  13. Double incontinence as a first symptom of saddle embolism of the aorta leads to sudden paraplegia.

    PubMed

    Sabzi, Feridoun; Faraji, Reza

    2015-11-01

    An aortic saddle embolus causing cauda equine syndrome followed by paraplegia is an exceedingly rare phenomenon in post-operative period in coronary artery bypass grafting. In non-CABG cases, reported documentation of neurological recovery from this event is even rarer. A 57-year-old male 8 days after uneventful OPCAP presented with severe lower extremity pain and sudden fecal and urinary incontinence, followed by the absence of pulsations in the lower limbs and paraplegia, during 20-minute period. He underwent immediate bilateral transfemoral embolectomy. The postoperative period was uneventful. The paraplegia recovered immediately after embolectomy and recovery from anesthesia. An angiography has been made to verify that a high origin of the great radicular artery above T12 level may be responsible for better recovery of paraplegia when its ostium obstructed by a saddle embolus relieved using embolectomy. Early surgical intervention in restoring the blood flow into the great radicular artery may prevent severe histological changes hitherto responsible for non-recovery from paraplegia in the earlier reports. Three unique characteristics of this article are as follows: 1) Occurrence of this complication in the post-operative period in off-pump CABG surgery; 2) Commencing of emboli with bizarre symptoms of double incontinence; 3) Combination of cauda equine syndrome and complete paralysis.

  14. Cholesterol crystal embolism and delayed-onset paraplegia after thoracoabdominal aneurysm repair.

    PubMed

    Nasr, Bahaa; Schneider, Fabrice; Marques da Fonseca, Pedro; Gouny, Pierre

    2014-07-01

    Postoperative paraplegia caused by ischemic injury of the spinal cord is the most disabling complication of thoracoabdominal surgery. We described the case of a 75-year-old patient who underwent a thoracoabdominal aneurysm repair (type IV aneurysm according to Crawford classification). The aorta clamping was done at the T11 level without specific medullary protection. The first postoperative week was uneventful. On the postoperative day 8, renal failure and livedo of the left lower limb occurred together with complete hypotonic paraplegia and severe sepsis. Exploratory laparotomy revealed a gangrenous cholecystitis, and skin biopsies showed cholesterol crystals embolisms in the hypodermis small arteries. The patient died on the postoperative day 28 from a multiorgan failure. In this case, paraplegia was due to cholesterol crystal embolism, which migrated secondarily after aortic clamping. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. 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.

    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.

  16. A novel paraplegia model in awake behaving macaques.

    PubMed

    Krucoff, Max O; Zhuang, Katie; MacLeod, David; Yin, Allen; Byun, Yoon Woo; Manson, Roberto Jose; Turner, Dennis A; Oliveira, Laura; Lebedev, Mikhail A

    2017-09-01

    Lower limb paralysis from spinal cord injury (SCI) or neurological disease carries a poor prognosis for recovery and remains a large societal burden. Neurophysiological and neuroprosthetic research have the potential to improve quality of life for these patients; however, the lack of an ethical and sustainable nonhuman primate model for paraplegia hinders their advancement. Therefore, our multidisciplinary team developed a way to induce temporary paralysis in awake behaving macaques by creating a fully implantable lumbar epidural catheter-subcutaneous port system that enables easy and reliable targeted drug delivery for sensorimotor blockade. During treadmill walking, aliquots of 1.5% lidocaine with 1:200,000 epinephrine were percutaneously injected into the ports of three rhesus macaques while surface electromyography (EMG) recorded muscle activity from their quadriceps and gastrocnemii. Diminution of EMG amplitude, loss of voluntary leg movement, and inability to bear weight were achieved for 60-90 min in each animal, followed by a complete recovery of function. The monkeys remained alert and cooperative during the paralysis trials and continued to take food rewards, and the ports remained functional after several months. This technique will enable recording from the cortex and/or spinal cord in awake behaving nonhuman primates during the onset, maintenance, and resolution of paraplegia for the first time, thus opening the door to answering basic neurophysiological questions about the acute neurological response to spinal cord injury and recovery. It will also negate the need to permanently injure otherwise high-value research animals for certain experimental paradigms aimed at developing and testing neural interface decoding algorithms for patients with lower extremity dysfunction.NEW & NOTEWORTHY A novel implantable lumbar epidural catheter-subcutaneous port system enables targeted drug delivery and induction of temporary paraplegia in awake, behaving nonhuman

  17. Leptospirosis presenting as a flaccid paraplegia.

    PubMed Central

    Mumford, C.; Dudley, N.; Terry, H.

    1990-01-01

    A fatal case of leptospirosis in a 64 year old farm worker is described. The dramatic neurological presentation with a rapidly evolving flaccid paraplegia associated with biochemical evidence of renal and hepatic dysfunction is discussed. Attention is drawn to the wide range of neurological symptoms reported in leptospirosis, and to the possibility that this infectious disease may present neurologically. PMID:2362889

  18. Painless aortic dissection presenting as paraplegia.

    PubMed

    Colak, Necmettin; Nazli, Yunus; Alpay, Mehmet Fatih; Akkaya, Ismail Olgun; Cakir, Omer

    2012-01-01

    Acute dissection of the aorta can be life-threatening. As a presenting manifestation of aortic dissection, neurologic complications such as paraplegia are rare. Herein, we report the case of a 51-year-old man who presented with sudden-onset paraplegia and ischemia of the legs, with no chest or back pain. His medical history included coronary artery bypass grafting. Physical examination revealed pulseless lower extremities, and computed tomography showed aortic dissection from the ascending aorta to the common iliac arteries bilaterally. A lumbar catheter was inserted for cerebrospinal fluid drainage, and axillary arterial cannulation was established. With the use of cardiopulmonary bypass, the aortic dissection was corrected, and the previous coronary artery grafts were reattached. The surgery restored spinal and lower-extremity perfusion, and the patient walked unaided from the hospital upon his discharge 5 days later. Although acute aortic dissection presenting as paraplegia is rare, it should be considered in patients who have pulseless femoral arteries bilaterally and sudden-onset paraplegia, despite no pain in the chest or back. Prompt diagnosis and intervention can prevent morbidity and death.

  19. Acute paediatric paraplegia: a case series review.

    PubMed

    Sharpe, Abigail N; Forsyth, Rob

    2013-11-01

    Paediatric paraplegia resulting from spinal cord pathology of any cause is rare; hence prognostic information for children less than 16 years is limited. This case series review aims to ascertain all cases of paediatric paraplegia from 1997 to 2012 in the former Northern Region of England. Children presenting with sudden paraplegia before the age of 16 years were multiply ascertained from databases in the regional paediatric neurology, neuroradiology, neuro-oncology and adult spinal injuries units. Data were obtained from retrospective case note review. A total of 44 cases (24 female) were identified. The incidence is estimated at 0.49 per 100,000 children under 16/year (95% confidence interval 0.41-0.57). Mean age of onset was 8.8 years and the most common aetiology was inflammatory. Twelve months post presentation, mortality was zero and a good outcome (defined as Gross Motor Function Classification System grades I or II) was seen in 66.6%. Motor outcome at 12 months was associated with the presence of bladder/bowel signs at presentation, previous viral illness and initial severity of paraplegia. Bladder signs at presentation were the strongest predictor of prognosis (OR for poor motor outcome 10.3). We were unable to demonstrate a relationship between aetiology and late outcome. Paediatric paraplegia is rare. Mortality rates are low and 66.6% have a good outcome with fully or nearly independent walking. Bladder signs are the strongest predictor of prognosis. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  20. Rehabilitation for patients with paraplegia and lower extremity amputation.

    PubMed

    Wang, Fangyong; Hong, Yi

    2015-10-01

    [Purpose] To study the characteristics and treatment strategy for patients with paraplegia and lower extremity amputation. [Subjects] Six cases were selected from among the patients admitted to the China Rehabilitation Research Center from 1991 to 2014. The criteria for the six cases were spinal cord injury with amputation immediately or in a short time (1 week) after the trauma. [Methods] General information, clinical diagnosis, treatment, rehabilitation and other data were analyzed. [Results] All the six cases were injured by high energy or complex energy accidents: two cases by falls after high voltage electric shock, one by an oil pipeline explosion, one by the impact of a falling tower crane and received high energy traffic accident injuries (one was hit by a train, and the other was hit by a truck at high speed). All the six cases had thoracic and lumbar vertebral injuries and complete paraplegia. Amputation stump infection occurred in four cases. After comprehensive rehabilitation treatment, patients' functional independence measure (FIM) scores improved significantly, but American Spinal Injury Association (ASIA) scores and ASIA Impairment Scale (AIS) grades showed no significant improvement. [Conclusion] When formulating the clinical treatment and rehabilitation for spinal cord injury with amputation patients, simultaneous consideration of the characteristics of the spinal cord injury and amputation is needed to develop an individualized strategy. For spinal cord injury with limb amputation patients, prostheses should allow the improvement of patients' self-care ability.

  1. Rehabilitation for patients with paraplegia and lower extremity amputation

    PubMed Central

    Wang, Fangyong; Hong, Yi

    2015-01-01

    [Purpose] To study the characteristics and treatment strategy for patients with paraplegia and lower extremity amputation. [Subjects] Six cases were selected from among the patients admitted to the China Rehabilitation Research Center from 1991 to 2014. The criteria for the six cases were spinal cord injury with amputation immediately or in a short time (1 week) after the trauma. [Methods] General information, clinical diagnosis, treatment, rehabilitation and other data were analyzed. [Results] All the six cases were injured by high energy or complex energy accidents: two cases by falls after high voltage electric shock, one by an oil pipeline explosion, one by the impact of a falling tower crane and received high energy traffic accident injuries (one was hit by a train, and the other was hit by a truck at high speed). All the six cases had thoracic and lumbar vertebral injuries and complete paraplegia. Amputation stump infection occurred in four cases. After comprehensive rehabilitation treatment, patients’ functional independence measure (FIM) scores improved significantly, but American Spinal Injury Association (ASIA) scores and ASIA Impairment Scale (AIS) grades showed no significant improvement. [Conclusion] When formulating the clinical treatment and rehabilitation for spinal cord injury with amputation patients, simultaneous consideration of the characteristics of the spinal cord injury and amputation is needed to develop an individualized strategy. For spinal cord injury with limb amputation patients, prostheses should allow the improvement of patients’ self-care ability. PMID:26644641

  2. Expectations of persons with paraplegia regarding their care in India: a qualitative study.

    PubMed

    Gupta, Nalina; Raja, Kavitha

    2017-01-01

    A qualitative study. The aim of this study was to understand expectations of persons with paraplegia in India regarding their care. India. This study used a qualitative methodology to have a focus group interview of persons with paraplegia in India. Focus group consisted of two to four participants with paraplegia. Adults with level T6 and below, complete injury, duration of at least 6 months post injury and those living in the community were included. Online focus group interviews were conducted using ZOOM online software for online discussions/meetings. Data were collected till data saturation. Recorded videos were transcribed into texts, and the transcribed documents were analysed using the ATLASti.8 software for qualitative data analysis. Forty-eight codes were retrieved under fourteen code groups. These code groups were acceptance, accessibility, advanced technology, assistive devices, basic skills, employment, expectations, experiences, functional independence, government policies, knowledge, psychological make-up, physiotherapy and rural area. Because of lack of awareness, knowledge and education provided to persons with paraplegia, their expectations were often unrealistic. Patient education and education of the health professionals are two of the most important aspects in spinal cord injury rehabilitation that must be taken into consideration in India.

  3. [Transient delayed paraplegia after repair of thoracic and thoracoabdominal aneurysms].

    PubMed

    Martín Torrijos, M; Aguilar Lloret, C; Ariño Irujo, J J; Serrano Hernando, F J; López Timoneda, F

    2013-11-01

    Thoracoabdominal aneurysm requires multidisciplinary management due to its complexity both in surgical technique and anesthetic considerations. One of the most feared postoperative complication is spinal cord ischemia. It can be presented as different clinical patterns, and its recovery may be partial or complete. The postoperative management of spinal cord ischemia is mainly based on techniques to increase spinal cord perfusion, above all, hemodynamic stability and cerebrospinal fluid drainage. We present two cases of delayed paraplegia after an open repair of a thoracoabdominal aneurysm and a descending thoracic aortic aneurysm repair using an endovascular stent graft. They both had a complete neurological recovery after cerebrospinal fluid drainage. Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

  4. Paraplegia After Thoracic Epidural Steroid Injection.

    PubMed

    Loomba, Vivek; Kaveeshvar, Hirsh; Dwivedi, Samvid

    2016-09-01

    Epidural steroid injections are a common procedure performed by pain physicians. The American Society of Regional Anesthesia along with several other groups recently provided guidelines for performing epidural injections in the setting of anticoagulants. We present a case of a patient who developed an epidural hematoma and subsequent paraplegia despite strict adherence to these guidelines. Although new guidelines serve to direct practice, risks of devastating neurologic complications remain as evidenced by our case.

  5. Walking dreams in congenital and acquired paraplegia.

    PubMed

    Saurat, Marie-Thérèse; Agbakou, Maité; Attigui, Patricia; Golmard, Jean-Louis; Arnulf, Isabelle

    2011-12-01

    To test if dreams contain remote or never-experienced motor skills, we collected during 6 weeks dream reports from 15 paraplegics and 15 healthy subjects. In 9/10 subjects with spinal cord injury and in 5/5 with congenital paraplegia, voluntary leg movements were reported during dream, including feelings of walking (46%), running (8.6%), dancing (8%), standing up (6.3%), bicycling (6.3%), and practicing sports (skiing, playing basketball, swimming). Paraplegia patients experienced walking dreams (38.2%) just as often as controls (28.7%). There was no correlation between the frequency of walking dreams and the duration of paraplegia. In contrast, patients were rarely paraplegic in dreams. Subjects who had never walked or stopped walking 4-64 years prior to this study still experience walking in their dreams, suggesting that a cerebral walking program, either genetic or more probably developed via mirror neurons (activated when observing others performing an action) is reactivated during sleep.

  6. Paraplegia caused by giant intradural herniation of a lumbar disk after combined spinal-epidural anesthesia in total hip arthroplasty.

    PubMed

    Sawai, Toshiyuki; Nakahira, Junko; Minami, Toshiaki

    2016-08-01

    Total paraplegia after epidural or spinal anesthesia is extremely rare. We herein report a case of total paraplegia caused by a giant intradural herniation of a lumbar disk at the L3-L4 level after total hip arthroplasty for coxarthrosis. The patient had no preoperative neurologic abnormalities. Intraoperative anesthetic management involved combined spinal-epidural anesthesia at the L3-L4 level with continuous intravenous propofol administration. Postoperatively, the patient complained of numbness and total paraplegia of the lower extremities. Magnetic resonance imaging showed a giant herniation of a lumbar disk compressing the spinal cord at the L3-L4 level. The intradural herniation was surgically treated, and the patient's symptoms completely resolved. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Clinical and socio-demographic characteristics of persons with traumatic paraplegia living in São Paulo, Brazil.

    PubMed

    Blanes, Leila; Lourenço, Lana; Carmagnani, Maria Isabel Sampaio; Ferreira, Lydia Masako

    2009-06-01

    To evaluate the clinical profile of individuals with paraplegia living in São Paulo, Brazil. The sample consisted of 60 outpatients with traumatic paraplegia from whom clinical and demographic data were obtained. The patients were predominately men (86.7%), single (61.7%), with mean age of 32.9 (SD=9.47) years, and complete or incomplete primary education (63.3%). Although 41.7% were born in different states, all patients were current residents of São Paulo, Brazil. The most frequent cause of paraplegia was firearm injury (63.3%) followed by car accident (20%). The most common complications observed in the patients were urinary (88.3%) and anal (45%) incontinence, muscle spasm (65%), and pressure ulcers (26.7%). The data revealed that the sample consisted predominantly of young males with low education level, showing complications due to SCI, and who were victims of urban violence.

  8. Paraplegia by acute cervical disc protrusion after lumbar spine surgery.

    PubMed

    Chen, Sheng-Huan; Hui, Yu-Ling; Yu, Chong-Ming; Niu, Chi-Chien; Lui, Ping-Wing

    2005-04-01

    Non-traumatic paraplegia caused by herniation of the cervical intervertebral disc is an uncommon postoperative complication. A patient with claudication and radiculopathy was scheduled for lumbar laminectomy due to spinal stenosis. Postoperatively, numbness below T6 was found in his both legs of the patient. MRI showed a protruded intervertebral disc between C6 and C7. Despite urgent disectomy, the patient's lower extremities remained paralyzed without significant improvement for 3 months. Loss of muscle support during general anesthesia, excessive neck extension during endotracheal intubation and positioning, as well as bucking and agitation are believed as triggering factors for the protrusion of the cervical disc. We suggest that a complete history taking and physical examination be accomplished in patients scheduled for lumbar spine surgery in order to exclude coexisting cervical spine disorders. In addition, skillful endotracheal intubation and careful neck positioning are mandatory for patients receiving surgery in the prone position.

  9. 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

  10. A large primary vaginal calculus in a woman with paraplegia.

    PubMed

    Avsar, Ayse Filiz; Keskin, Huseyin Levent; Catma, Tuba; Kaya, Basak; Sivaslioglu, Ahmet Akın

    2013-01-01

    The study aimed to report a primary vaginal stone, an extremely rare entity, without vesicovaginal fistula in a woman with disability. We describe the case of a large primary vaginal calculus in a 22-year-old woman with paraplegia, which, surprisingly, was not diagnosed until she was examined under general anesthesia during a preparation for laparoscopy for an adnexal mass. The stone had not been identified by physical examination with the patient in a recumbent position or by transabdominal ultrasonography and pelvic tomography during the preoperative preparation. Vaginoscopy was not performed because the vagina was completely filled with the mass. As a result of its size and hard consistency, a right-sided episiotomy was performed and a 136-g stone was removed using ring forceps. A vesicovaginal fistula was excluded. There was no evidence of a foreign body or other nidus on the cut section of the stone, and it was determined to be composed of 100% struvite (ammonium magnesium phosphate). Culture of urine obtained via catheter showed Escherichia coli. After the surgical removal of the calculus without complications, a program of intermittent catheterization was started. The follow-up period was uneventful, and the patient was symptom free at 6 months after the operation. We postulate that the calculus formed as a consequence of urinary contamination of the vagina in association with incontinence and prolonged maintenance in a recumbent posture. This report is important because it highlights that, although vaginal stones are very rare, their possibility should be considered in the differential diagnosis of individuals with long-term paraplegia.

  11. Gait evolution in a family with hereditary spastic paraplegia.

    PubMed

    Armand, Stéphane; Turcot, Katia; Bonnefoy-Mazure, Alice; Lascombes, Pierre; De Coulon, Geraldo

    2015-01-01

    The degree of disability in patients with hereditary spastic paraplegia has been reported variable even in members of the same family (same gene mutation). Moreover, it has been established that patients with hereditary spastic paraplegia should be treated differently from cerebral palsy patients due to the progressive nature of this disease. However, the gait evolution of hereditary spastic paraplegia showing onset symptoms at an early age has been described as stable. Therefore, this study aims to evaluate the walking ability and the influence of treatments on gait evolution in a family with hereditary spastic paraplegia. Clinical gait analyses were performed in six hereditary spastic paraplegia patients from the same family with a follow-up of 4-15 years. Based on the gait deviation index, results showed a large variation of walking ability in these patients and no statistical difference between the first and last examination. In fact, three patients have improved their gait (from childhood to adolescence) whereas three patients worsened their gait. Gait alterations in a family with hereditary spastic paraplegia are heterogeneous. Gait evolution in hereditary spastic paraplegia with early symptoms had a tendency to improve gait until adolescence with adapted treatments and to decline in the adulthood. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  12. [Japan Spastic Paraplegia Research Consortium (JASPAC)].

    PubMed

    Takiyama, Yoshihisa

    2014-10-01

    Japan Spastic Paraplegia Research Consortium (JASPAC), a nationwide clinical and genetic survey of patients with hereditary spastic paraplegia (HSP), was started in 2006 as a project of the Research Committee for Ataxic Diseases of the Ministry of Health, Labor, and Welfare, Japan. To date (April 4, 2014), 448 indexed patients with HSP have been registered from 46 prefectures in Japan. We are now performing molecular testing of the HSP patients using Sanger sequencing (SPG4, SPG11, SPG31, and ARSACS), comparative genomic hybridization (CGH) array (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 15, 17, 20, 21, 31, 33, 39, 42, ABCD1, alsin, and ARSACS), and resequencing microarray (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 17, 20, 21, 31, 33, and ABCD1). In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). In 88 patients with autosomal recessive HSP, although SPG11 was the most common form, accounting for 6%, most showed significant genetic heterogeneity. The results of molecular testing will be applicable to patients in terms of improved positive diagnosis, follow-up, and genetic counseling. JASPAC will contribute to elucidating the molecular mechanisms underlying HSP, and will facilitate the development of better treatments for HSP.

  13. Evidence for an Exaggerated Postprandial Lipemia in Chronic Paraplegia

    PubMed Central

    Nash, Mark S; deGroot, Joris; Martinez-Arizala, Alberto; Mendez, Armando J

    2005-01-01

    Background/Objective: Excessive delay in triglyceride (TG) metabolism after ingestion of dietary fat represents a significant cardiovascular disease (CVD) risk. The objective of this study was to compare the postprandial lipemic responses of individuals with paraplegia with those of healthy nondisabled individuals. Methods: The ability of 3 recreationally active individuals with paraplegia having normal fasting TG (mean = 103 mg/dL) to metabolize TG after ingestion of a high-fat test meal was compared with a previously published cohort of 21 recreationally active individuals without paraplegia (TG mean = 86 mg/dL) who underwent identical testing. The subjects with paraplegia had venous blood taken under fasting conditions, and then ingested a milkshake containing premium ice cream blended with heavy whipping cream (~92% of calories from fat). Additional blood samples were obtained at 2, 4, and 6 hours after ingestion. The area under the curve (AUC) for TG clearance for both subject groups was measured with an area planimeter. Results: TG uptake for both groups was almost identical for the first 2 hours after ingestion. At 4 and 6 hours after ingestion, the TG levels were 50 and 35 mg/dL higher, respectively, in subjects with paraplegia than in nondisabled subjects. When corrected for small baseline differences in TG concentrations (16 mg/dL), the AUC was 46.5% greater for the group with paraplegia than in the nondisabled group. A near mirror association across time was observed between postprandial serum high-density lipoprotein cholesterol (HDL-C) and TG levels in subjects with paraplegia. Conclusion: This case series finds an exaggerated postprandial lipemia (PPL) in persons with paraplegia with normal fasting TGs. This finding is the first evidence, in a small population, of an unreported potential CVD risk in persons with paraplegia. PMID:16396382

  14. Acute Paraplegia as a Presentation of Aortic Saddle Embolism

    PubMed Central

    Guishard, Kim

    2016-01-01

    Background. Acute onset paraplegia has a myriad of causes most often of a nonvascular origin. Vascular etiologies are infrequent causes and most often associated with postsurgical complications. Objective. To describe the occurrence and possible mechanism for aortic saddle embolism as a rare cause of acute paraplegia. Case Report. Described is a case of a 46-year-old female who presented with the sudden onset of nontraumatic low back pain with rapidly progressive paraplegia which was subsequently determined to be of vascular origin. PMID:27822396

  15. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

    PubMed

    Sánchez-Ferrero, Elena; Coto, Eliecer; Corao, Ana I; Díaz, Marta; Gámez, Josep; Esteban, Jesús; Gonzalo, Juan F; Pascual-Pascual, Samuel I; López De Munaín, Adolfo; Morís, Germán; Infante, Jon; Del Castillo, Emilia; Márquez, Celedonio; Alvarez, Victoria

    2012-02-01

    Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between common mtDNA polymorphisms and spastic paraplegia. The ten mtDNA polymorphisms that defined the common European haplogroups were determined in 424 patients, 19% with a complicated phenotype. A rare haplogroup was associated with the disease in patients without a SPG3A, SPG4, or SPG7 mutation. Allele 10398G was more frequent among patients with a pure versus complicated phenotype. This mtDNA polymorphism was previously associated with the risk of developing other neurodegenerative diseases. In conclusion, some mtDNA polymorphisms could contribute to the development of spastic paraplegia or act as modifiers of the phenotype.

  16. Management of acute spontaneous thoracic spinal epidural hematoma causing paraplegia.

    PubMed

    Alić, Fahrudin; Bečulić, Hakija; Jusić, Aldin; Skomorac, Rasim; Moranjkić, Mirza; Hrvat, Lejla; Tandir, Lejla

    2017-02-01

    Aim To emphasize the importance of early recognition, diagnostic processing and emergent surgical treatment of spontaneous spinal epidural hematoma (SSEH). Methods A 39-year-old female presented with sudden onset of severe pain between the shoulder blades followed by paraparesis and alerted sensibility in the lower extremities. An hour later she developed paraplegia with sensory deficits below ThIV level, absence of patellar reflex, ankle jerk reflex and sphincter dysfunction. Results Magnetic resonance imaging (MRI) demonstrated acute extensive epidural mass of thoracic spinal segments (ThI-ThIII). The patient underwent emergent decompressive laminectomy ThI-ThIII with epidural hematoma evacuation within 24 hours of symptoms onset. After the surgical treatment, because of suspicion on spinal arteriovenous malformation, complete diagnostic evaluation with spinal angiography was done and no form of vascular malformation was found. Idiopathic SSEH was diagnosed. Two months later the patient reached complete neurological improvement. Conclusion The SSEH is a rare condition that should be kept in mind in patients presenting with neurological deficit and a sudden onset of back pain like it was in our case. For early diagnosis, immediate MRI is essential. Prompt surgical decompression such as laminectomy is an absolute surgical indication widely accepted for patients with progressive neurological deficit. The SSEH should be considered as one of the important differential diagnoses in patients who have developed acute myelopathy.

  17. 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

  18. [Hereditary spastic paraplegia: up to date].

    PubMed

    Takiyama, Yoshihisa

    2014-01-01

    Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP.

  19. A Rare Complication of Tuberculosis: Acute Paraplegia.

    PubMed

    Aydın, Teoman; Taşpınar, Özgür; Keskin, Yasar; Kepekçi, Müge; Güneşer, Meryem; Çamlı, Adil; Seyithanoğlu, Hakan; Kızıltan, Huriye; Eriş, Ali Hikmet

    2016-07-01

    Tuberculous radiculomyelitis(TBRM) is one of the complications of neurological tuberculosis and includes cases of arachnoiditis, intradural spinal tuberculoma or granuloma, and spinal cord complications of tuberculous meningitis (TBM). Here, we report a case of TBRM which presented with acute paraplegia. Neurological examination on admission revealed flaccid paralysis, bilateral extensor plantar responses, and exaggerated deep tendon reflexes. Cerebrospinal fluid analysis showed xanthochromic fluid that contained 600 cells/mm3, 98% lymphocytes, protein 318 mg/dl and glucose 51 mg/dl (blood glucose 118 mg/dl). On thorax CT, calcified lymph nodes that were sequelae of primary tuberculosis infection was detected. Antituberculosis and intravenous corticosteroids treatment was started. Seven weeks from the onset, on-control spinal MRI myelomalacia was determined, and there was no leptomeningeal enhancement. After six weeks of rehabilitation, lower limb total motor score was increased from 0/50 to 15/50. Tuberculous radiculomyelitis is a complication of TBM. It is rarely seen.

  20. Evaluation of minimally invasive therapies and rationale for a prospective randomized trial to evaluate selective intra-arterial lysis for clinically complete central retinal artery occlusion.

    PubMed

    Mueller, Arthur J; Neubauer, Aljoscha S; Schaller, Ulrich; Kampik, Anselm

    2003-10-01

    To determine the effect of commonly used minimally invasive treatments for clinically complete nonarteritic central retinal artery occlusion (CRAO) and design a prospective randomized trial to evaluate selective intra-arterial lysis for this condition. In this retrospective noncomparative case series, all medical records of patients with a diagnosis of CRAO treated at the Department of Ophthalmology, Ludwig-Maximilians-Universität, Munich, Germany, from 1994 through 1999 were reviewed for treatments administered and course of visual acuity. Best-corrected visual acuity (BCVA) at initial and last visit. We identified 102 patient medical records; 71 were suitable for further analysis. Forty-four (62%) of the 71 patients included were treated with oral acetylsalicylate; 44 (62%), with oral acetazolamide; 32 (45%), with ocular massage; 22 (31%), with isovolemic hemodilution; 19 (27%), with oral pentoxifylline; 8 (11%), with topical beta-blocker; 6 (8%), with paracentesis of the anterior chamber; 4 (6%), with subcutaneous heparin. A mean +/- SD number of treatments of 2.5 +/- 1.4 was administered per patient, and BCVA increased by a mean +/- SD number of Snellen lines of 0.7 +/- 2.8. The BCVA in 11 patients (15%) increased by 3 or more lines. Multivariate stepwise regression did not reveal any single or combination treatment as a significant factor for improvement in BCVA. Patient age and duration of visual impairment before initial examination were not significant predictors of final BCVA. Commonly used minimally invasive treatments of CRAO do not improve the natural course of the disease. A prospective trial by the European Assessment Group for Lysis in the Eye is under way to evaluate selective intra-arterial lysis, and in this trial some of these minimally invasive treatments are used in the control group.

  1. Effects of paraplegia on cardiac autonomic regulation during static exercise.

    PubMed

    Agiovlasitis, Stamatis; Heffernan, Kevin S; Jae, Sae Young; Ranadive, Sushant M; Lee, Miyoung; Mojtahedi, Mina C; Fernhall, Bo

    2010-10-01

    The aim of this study was to examine whether autonomic modulation of heart rate as measured by heart rate variability and heart rate complexity at rest and during static handgrip exercise differs between individuals with and without paraplegia. This study also examined the relationships between heart rate complexity and heart rate variability parameters. Heart rate variability and complexity were evaluated in 20 individuals with paraplegia and in 20 individuals without paraplegia during 3 mins of rest and 2 mins of static handgrip exercise at 30% of maximum isometric strength. Spectral decomposition of heart rate variability was used to obtain total power, power in low-frequency and high-frequency ranges, and the ratio of low- to high-frequency power. Heart rate complexity was quantified with sample entropy, a measure of irregularity of the beat-to-beat time series. Sample entropy was lower (P < 0.05) at rest and during exercise in participants with paraplegia. Total, high-, and low-frequency powers as well as the ratio of low- to high-frequency power did not differ between groups. Sample entropy did not significantly correlate with low- and high-frequency powers or their ratio. Individuals with paraplegia show lower heart rate complexity at rest and during static exercise. This finding may have implications for cardiovascular morbidity in persons with paraplegia. Heart rate complexity may provide unique information regarding cardiac autonomic modulation, different from that provided by traditional heart rate variability measures.

  2. Paraplegia caused by aortic coarctation complicated with spinal epidural hemorrhage.

    PubMed

    Tsai, Yi-Da; Hsu, Chin-Wang; Hsu, Chia-Ching; Liao, Wen-I; Chen, Sy-Jou

    2016-03-01

    Aortic coarctation complicated with spinal artery aneurysm rupture is exceptionally rare and can be source of intraspinal hemorrhage with markedly poor prognosis. A 21-year-old man visited the emergency department because of chest and back pain along with immobility of bilateral lower limbs immediately after he woke up in the morning. Complete flaccid paraplegia and hypoesthesia in dermatome below bilateral T3 level and pain over axial region from neck to lumbar region were noted. A computed tomography excluded aortic dissection. Magnetic resonance imaging revealed a fusiform lesion involving the anterior epidural space from C7 to T2 level suspected of epidural hemorrhage, causing compression of spinal cord. He started intravenous corticosteroid but refused operation concerning the surgical benefits. Severe chest pain occurred with newly onset right bundle branch block that developed the other day. Coronary artery angiography revealed myocardial bridge of left anterior descending coronary artery at middle third and coarctation of aorta. He underwent thoracic endovascular aortic repair uneventfully. The patient was hemodynamically stable but with slow improvement in neurologic recovery of lower limbs. Aortic coarcation can cause paralysis by ruptured vascular aneurysms with spinal hemorrhage and chest pain that mimics acute aortic dissection. A history of hypertension at young age and aortic regurgitated murmurs may serve as clues for further diagnostic studies. Cautious and prudent evaluation and cross disciplines cares are essential for diagnosis and successful management of the disease.

  3. A stimulation-driven exoskeleton for walking after paraplegia.

    PubMed

    Chang, Sarah R; Nandor, Mark J; Lu Li; Foglyano, Kevin M; Schnellenberger, John R; Kobetic, Rudi; Quinn, Roger D; Triolo, Ronald J

    2016-08-01

    An untethered version of a stimulation-driven exoskeleton was evaluated for its ability to restore walking after paralysis from spinal cord injury. The hybrid neuroprosthesis (HNP) combined a passive variable-constraint exoskeleton for stability and support with functional neuromuscular stimulation (FNS) to contract the paralyzed muscles to drive limb movement. This self-contained HNP was operated by an onboard controller that sampled sensor signals, generated appropriate commands to both the exoskeletal constraints and integrated stimulator, and transmitted data wirelessly via Bluetooth to an off-board computer for real-time monitoring and recording for offline analysis. The subject selected the desired function (i.e. standing up, stepping, or sitting down) by means of a wireless finger switch that communicated with the onboard controller. Within the stepping function, a gait event detector supervisory controller transitioned between the different phases of gait such as double stance, swing, and weight acceptance based on signals from sensors incorporated into the exoskeleton. The different states of the control system governed the locking and unlocking of the exoskeletal hip and knee joints as well as the stimulation patterns activating hip and knee flexor or extensor muscles at the appropriate times and intensities to enable stepping. This study was one of our first successful implementations of the self-contained "muscle-first" HNP and successfully restored gait to an individual with motor complete mid-thoracic paraplegia.

  4. Paraplegia Due to Spinal Cord Infarction After Coronary Artery Bypass Graft Surgery.

    PubMed

    Sevuk, Utkan; Kaya, Sedat; Ayaz, Firat; Aktas, Ulas

    2016-01-01

    Paraplegia is an extremely rare complication after coronary artery bypass grafting (CABG) and the underlying mechanisms remain poorly understood. We report a patient who developed paraplegia after CABG and review the literature on spinal cord ischemia following CABG surgery.

  5. 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

    2015-06-06

    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.

  6. Paraplegia caused by cerebral contusions in the bilateral precentral gyri

    PubMed Central

    Matsumura, Hideaki; Fujimori, Hiroyuki; Sato, Naoaki; Matsumura, Akira

    2016-01-01

    Background: Paraplegia is mainly caused by spinal cord disease and rarely occurs due to head trauma. In this report, we describe a case of paraplegia caused by cerebral contusions in the bilateral precentral gyri. Case Description: A 72-year-old man was admitted to our hospital with mildly impaired consciousness and severe pure motor paralysis in both legs. He was healthy until the morning of the day, but his wife found him injured in front of his house upon returning home. He had a subcutaneous hematoma in his occipital region, and seemed to have slipped by accident. Computed tomography of the brain and magnetic resonance imaging (MRI) of his spinal cord revealed no apparent cause of the paraplegia, although an MRI of his brain clearly revealed cerebral contusions in the bilateral precentral gyri. The cerebral contusion was diagnosed as the cause of pure motor paralysis of lower extremities. He received rehabilitation, and manual muscle testing of his legs revealed improvements. In the subacute phase, the precentral gyrus lesion disappeared on MRI. Conclusion: We must emphasize that cerebral contusion can be a differential diagnosis for paraplegia. In the acute phase, fluid-attenuated inversion recovery (FLAIR) MRI coronal and sagittal images are useful for identifying precentral gyri contusions. Paraplegia caused by a cerebral contusion may be misdiagnosed as a spinal concussion due to the disappearance of the precentral gyrus lesion on FLAIR MRI in the subacute phase. PMID:27904755

  7. Lipid profiles of persons with paraplegia and tetraplegia: sex differences.

    PubMed

    Schmid, Andreas; Knöebber, Judith; Vogt, Stefan; König, Daniel; Deibert, Peter; Bültermann, Dirk; Heinrich, Lothar; Baumstark, Manfred W; Berg, Aloys; Storch, Max-Jürgen

    2008-01-01

    To examine the lipoprotein profiles of men and women with paraplegia and tetraplegia. Impairment of the sympathetic nervous system (dependent on the level of injury) and the extent of physical capacity and activity were correlated with the lipid profile in men with spinal cord injury (SCI). Sex-related differences of the lipoprotein profiles could be found in nondisabled and premenopausal women with SCI mainly because of the different effects of sexual hormones. Lipoprotein profiles of 112 participants with SCI (32 premenopausal women, 80 men) were analyzed and correlated to sex, lesion level, and physical performance capacity. Women with tetraplegia or paraplegia showed significantly higher levels of high-density lipoprotein and lower ratios of total cholesterol to high-density lipoprotein-cholesterol compared with men with corresponding lesion levels, without a difference in peak oxygen consumption. Concentrations of very-low-density lipoproteins were lower in women with paraplegia than in men with paraplegia; no differences were found in total cholesterol, low-density lipoprotein-cholesterol, and triglycerides. Sex-independent elevations in total cholesterol and low-density lipoprotein-cholesterol were associated with paraplegia, and sex-independent elevations in triglyceride levels were associated with tetraplegia. Persons with SCI showed sex-related differences in their lipoprotein profiles. Independent of physical fitness, the lipoprotein profile of premenopausal women with SCI did not exhibit the adverse lipoprotein characteristics observed in men with SCI, probably because of the influence of sexual hormones independent of lesion level.

  8. Assessment of agonist-antagonist shoulder torque ratios in individuals with paraplegia: a new interpretative approach.

    PubMed

    Dehail, P; Gagnon, D; Noreau, L; Nadeau, S

    2008-08-01

    Cross-sectional study. To evaluate isokinetic shoulder flexor-extensor (F/E) and abductor-adductor (Ab/Ad) torque ratios in individuals with paraplegia using a new interpretative approach. We proposed to study torque ratios according to joint angle sections (15 degrees angle subgroups) over a selected range of motion. Pathokinesiology Laboratory, Montreal, Canada. Sixteen individuals with complete motor paraplegia, without shoulder pain or impairment, were included in this study. After a preloading period of 1 s, maximum isokinetic concentric contractions of all muscle groups were completed at 30, 60 and 120 degrees s(-1) over the entire tested ranges of motion (70 to -35 degrees for the flexion-extension and 15 to 60 degrees for the abduction-adduction). After the continuous torque curves were rebuilt, the mean F/E and Ab/Ad torque ratios were calculated and analyzed every 15 degrees. A significant modification of the F/E (F=66.3; P<0.001) and Ab/Ad (F=100.6; P<0.001) torque ratios was observed according to the 15 degrees angle subgroup evaluated. More precisely, a progressive decline of both the F/E and Ab/Ad ratios was noted as the shoulder flexion or abduction progressed. Angular velocity did not have any influence on torque ratio values. Angle subgroup torque ratio analysis leads to a better estimation of the balance between the agonist and antagonist muscle groups than does traditional peak torque ratio analysis. In individuals with paraplegia, this precise estimation of torque ratios may lead to the development of specific shoulder strengthening programs to prevent muscle imbalance and its consequences.

  9. Nontraumatic Acute Paraplegia Associated With Cervical Disk Herniation

    PubMed Central

    Liu, Chao; Huang, Yue; Cai, Hong-Xin; Fan, Shun-Wu

    2010-01-01

    Background: Acute paraplegia is a true emergency. It is often the result of trauma but is rarely reported in association with cervical disk herniation in patients without antecedent injury. Methods: Case report. Findings: This 75-year-old man presented with acute paraplegia due to severe compression of the spinal cord by herniation of the C4-C5 cervical disk. He underwent emergency diskectomy and anterior fusion. Postoperatively, his neurologic functions improved gradually. Conclusions: Cervical disk herniation should be considered in the differential diagnosis of nontraumatic acute paraplegia. Pre-existing narrowed canal is an important predisposing factor and excessive neck movements are believed to be triggering factors. Immediate early decompressive surgery is recommended to avoid irreversible progression of neurologic deficit. PMID:21061902

  10. Rehabilitation for paraplegia caused by neuromyelitis optica: a case report.

    PubMed

    Sato, M; Sugiyama, K; Kondo, T; Izumi, S-I

    2014-11-01

    Single case report. We present a case of paraplegia due to neuromyelitis optica (NMO) with poor rehabilitation outcome. University hospital, Japan. A 27-year-old woman with NMO presented with T5 paraplegia of ASIA impairment scale grade A. Spinal cord magnetic resonance imaging revealed a lesion spanning C3 to L1 level. After acute phase treatment, flaccid paraplegia below T5 and a T2-weighted hyperintense lesion from T6 to T10 level remained. Rehabilitation aimed at independence of activities of daily living with wheelchair assistance, including transfer activity, was provided for 19 months. However, flaccid paralysis of the trunk and limbs persisted, and safe independent transfer was not achieved. Spinal lesions spanning many vertebral segments, a characteristic of NMO, can cause extensive flaccid paralysis of the trunk and limbs. Rehabilitation may achieve poorer functional recovery than that for spinal cord injury.

  11. Predictors of paraplegia with current thoracoabdominal aortic aneurysm repair.

    PubMed

    Wongkornrat, Wanchai; Yamamoto, Shin; Sekine, Yuji; Ono, Makoto; Fujikawa, Takuya; Oshima, Susumu; Sasaguri, Shiro

    2015-05-01

    Although the results of surgical repair of thoracoabdominal aortic aneurysm continue to improve, the incidence of paraplegia remains within a wide range depending on each institution. The purpose of this study was to find predictors of paraplegia following thoracoabdominal aortic aneurysm repair in our institute, using the current spinal cord protection strategies. From January 2007 to December 2011, 200 consecutive patients underwent thoracoabdominal aortic aneurysm repair. Of these, 24 (12%) had Crawford extent I repair, 82 (41%) had extent II, 51 (25.5%) had extent III, 10 (5%) had extent IV, and 33 (16.5%) had extent V (modified by Safi). Aortic dissection was present in 101 (50.5%) patients. Adjuncts used during the procedures included left heart bypass in all patients, cerebrospinal fluid drainage in 164 (82%), and intercostal artery reimplantation in 76 (38%). There were 20 (10%) hospital deaths including 6 (3%) within 30 days; hospital mortality was 8.8% in elective operations. Postoperative complications included paraplegia in 17 (8.5%) patients, stroke in 5 (2.5%), and acute renal failure requiring dialysis in 5 (2.5%). Logistic regression analysis revealed that significant factors for the development of paraplegia were preoperative hypotension (p = 0.005, odds ratio 18.5), intraoperative hypotension (p = 0.001, odds ratio 77.6), and an open distal anastomosis technique (p = 0.012, odds ratio 4.6). The predictors of postoperative paraplegia in our institution were perioperative hypotension and an open distal anastomosis technique. Avoidance of these risk factors might diminish the incidence of postoperative paraplegia. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  12. 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

  13. 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.

  14. [Progressive spastic paraplegia as a presentation of oculodentodigital syndrome].

    PubMed

    Nguyen, K; Philip, N; Suchet, L; Azulay, J P; Pouget, J

    2004-01-01

    Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.

  15. Spinal cord ischemia resulting in paraplegia following extrapleural pneumonectomy.

    PubMed

    Ural, Kelly; Jakob, Kyle; Lato, Scott; Gilly, George; Landreneau, Rodney

    2014-08-01

    A patient undergoing radical extrapleural pneumonectomy for epithelioid malignant mesothelioma developed acute paraplegia postoperatively related to long-segment spinal cord ischemia. The usual area of concern for this complication is the T9 to T12 area where the artery of Adamkiewicz is most likely to originate. In this patient, there was ligation of only upper thoracic, ipsilateral segmental arteries from the T3 to T6 level, yet he still developed paraplegia. Our hypothesis is variant mid-thoracic vascular anatomy. Previously unreported, to our knowledge, this should be understood as a rare complication of this surgery.

  16. Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    PubMed Central

    Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A.; Haridy, Nourelhoda A.; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Proukakis, Christos; Morris, Huw; Warner, Tom; Bhatia, Kailash P.; Korlipara, L.V. Prasad; Singleton, Andrew B.; Hardy, John; Wood, Nicholas W.; Lewis, Patrick A.

    2016-01-01

    The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15, SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined. The overlap with other neurodegenerative disorders has been implied in a small number of reports, but not in larger disease series. This deficiency has been largely due to the lack of suitable high throughput techniques to investigate the genetic basis of disease, but the recent availability of next generation sequencing can facilitate the identification of disease-causing mutations even in extremely heterogeneous disorders. We investigated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology centre in London for diagnosis or management. The mean age of onset was 16 years (range 3 to 39). The SPG11 gene was first analysed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinical features and other neurological manifestations, linked with magnetic resonance imaging defects. Given the high frequency of SPG11 mutations, we studied the autophagic response to starvation in eight affected SPG11 cases and control fibroblast cell lines, but in our restricted study we did not observe correlations between disease status and autophagic or lysosomal markers. In the remaining cases, next

  17. 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

  18. Relation of heart rate recovery to heart rate variability in persons with paraplegia.

    PubMed

    Jae, Sae Young; Heffernan, Kevin S; Lee, Miyoung; Fernhall, Bo

    2011-04-01

    Heart rate recovery (HRR) after treadmill exercise testing is an index of cardiac autonomic activity in non-disabled persons, but it is unknown if this is also the case in individuals with spinal cord injury (SCI). We investigated the relationship between HRR after maximal arm exercise testing and resting autonomic activity in persons with paraplegia. A total of 17 (male n = 9, female n = 8) active individuals with paraplegia (injury below T6) were included in the study. Frequency domain analyses of resting heart rate variability were obtained and participants completed a maximal arm exercise test. HRR was calculated as the difference between peak heart rate during the test and heart rate 1 min (HRR1) and 2 (HRR2) min after cessation of exercise. HRR 1 and HRR 2 were statistically significantly correlated with high-frequency (HF) power (r = 0.46, p < 0.05 and r = 0.47, p < 0.05) and the LF/HF ratio (r = -0.49, p < 0.05 and r = -0.50, p < 0.05). After adjusting for age, peak heart rate and peak oxygen uptake, HRR 2 was still significantly associated with HF power (r = 0.50, p < 0.05) and the LF/HF ratio (r = -0.58, p < 0.05). These findings indicate that HRR after maximal arm exercise testing is associated with resting cardiac autonomic activity in persons with paraplegia. This would suggest that HRR after maximal arm exercise testing can be used as an index of autonomic function in this population.

  19. Estimating MET values using the ratio of HR for persons with paraplegia.

    PubMed

    Lee, Miyoung; Zhu, Weimo; Hedrick, Brad; Fernhall, Bo

    2010-05-01

    The current compendium of physical activity (CPA) cannot be applied to persons with disabilities due to the lack of physical activity (PA) they are regularly engaged in and inaccurate MET values when applied to persons with disabilities. The purposes of this study were (a) to determine whether HR ratio during PA and resting can be used to accurately predict MET values of PA in persons with paraplegia, (b) to compare individual calibration (IC) with group calibration (GC) in error reduction, and (c) to examine prediction generalizability through a cross-validation design. Twenty-seven participants (aged 18-45 yr) with complete and incomplete paraplegia at T6 to L4 participated in this study. Oxygen uptake (VO2) and HR were measured simultaneously at rest and during 10 PA using indirect calorimetry and a Polar HR monitor. Predicted METs were calculated using the HR ratio for six activities by applying regression analysis by group (GC) and individuals (IC), respectively. The derived equations were then cross-validated using the four other activities, and corresponding METs were calculated. Absolute error rates (AC), paired t-test, and correlation (r) were used to determine the absolute and relative difference between observed and predicted METs. The overall correlation coefficient (r) between HR ratio and observed METs was 0.77 using group regression and 0.93 +/- 0.05 using individual regression. GC (R2 = 0.59, AC = 0.07%-65.25%) was less accurate than IC (R2 = 0.90 +/- 0.10, AC = 1.64%-10.26%). Cross-validation results also showed higher correlations for IC (r = 0.90 in IC and 0.72 in GC) between observed and predicted METs. HR ratio was able to accurately predict METs of persons with paraplegia. IC estimated METs more accurately than GC.

  20. Adolescent paraplegia, morbid obesity, and pickwickian syndrome: outcome of gastric bypass surgery.

    PubMed

    Miyano, Go; Kalra, Maninder; Inge, Thomas H

    2009-03-01

    Loss of mobility, such as what occurs as a consequence of spinal cord injury or malformation, is a risk factor for excess weight gain and can confound weight management efforts. Despite well-documented outcomes of bariatric surgery in ambulatory patients, little information is available regarding weight loss surgery in adult or adolescent paraplegic patients. A 15-year-old adolescent boy with a body mass index of 60 kg/m(2) and complete paraplegia caused by spina bifida developed metabolic dysfunction, severe obstructive sleep apnea, and hypoxemia syndrome. In an effort to avoid a tracheostomy for worsening pickwickian syndrome, he was referred for weight loss surgery. Laparoscopic Roux-en-Y gastric bypass surgery was safely performed and resulted in loss of 55% of body weight (83.8% excess weight loss) for 2 years. Risk factors for cardiovascular disease markedly improved, and polysomnography demonstrated complete reversal of sleep apnea with substantial subjective improvement in daytime breathlessness and quality of life. Body composition analysis demonstrated preferential reduction in body fat mass compared with lean mass, without detrimental effect on bone mineral density. This case illustrates that paraplegia does not necessarily impair either weight loss efficacy or comorbidity resolution after Roux-en-Y gastric bypass surgery.

  1. Paraplegia and transtibial amputation: successful ambulation after dual disability: a retrospective case report.

    PubMed

    Senthilvelkumar, Thangavelu; Chandy, Bobeena R

    2017-01-01

    This is a single-subject case report. The objective is to describe the unique rehabilitation outcome of an individual with motor complete T12 paraplegia and a right transtibial amputation. This study was conducted at the Department of Physical Medicine and Rehabilitation of Christian Medical College in India. A 42-year-old policeman presented to our rehabilitation centre with motor complete T12 paraplegia and right transtibial amputation, 3 months following a road traffic accident. As the patient's goal was to walk, he was given a trial of independent ambulation with a customized prosthesis on the right side and a regular knee ankle foot orthosis (KAFO) on the left side. At the end of 12 weeks of rehabilitation, the patient was able to walk independently with the prosthesis/orthosis and bilateral elbow crutches. His Walking Index for Spinal Cord Injury (WISCI) score improved from 0/20 to 12/20 points. The scope of functional ambulation should not get restricted for a person with low thoracic spinal cord injury even when there is concurrent transtibial amputation.

  2. Extremely severe complicated spastic paraplegia 3A with neonatal onset.

    PubMed

    Yonekawa, Takahiro; Oya, Yasushi; Higuchi, Yujiro; Hashiguchi, Akihiro; Takashima, Hiroshi; Sugai, Kenji; Sasaki, Masayuki

    2014-11-01

    Spastic paraplegia 3A typically manifests in childhood as an uncomplicated form of hereditary spastic paraplegia with slow progression. Most affected individuals present with spasticity and weakness in the legs before the end of the first decade. We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1. He manifested general hypertonia and hypokinesia since the neonatal period and was initially diagnosed with cerebral palsy. He was never able to move without assistance because of severe spastic quadriplegia with distal dominant muscle weakness. He also developed with pseudobulbar palsy; his speech, chewing, and swallowing were severely impaired. Electrophysiological studies revealed severe diffuse axonal neuropathy. Extremely severe complicated spastic paraplegia 3A can be caused by mutations in the linker or three-helix bundle of atlastin 1. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. A guideline-driven assessment of need for cardiovascular disease risk intervention in persons with chronic paraplegia.

    PubMed

    Nash, Mark S; Mendez, Armando J

    2007-06-01

    To examine percentages of persons with chronic paraplegia who qualify for lipid-lowering therapeutic lifestyle intervention (TLI) as assessed by authoritative guidelines. Cross-sectional. Academic medical center. Forty-one subjects (mean age +/- standard deviation, 34+/-11 y) with motor-complete paraplegia (American Spinal Injury Association grade A or B) at T6-L1 levels for greater than 2 years. Not applicable. Percentages of subjects qualifying for TLI were independently assessed and then compared using National Cholesterol Education Project Adult Treatment Panel (ATP) II (1994) and ATP III (2002) Guidelines. A total of 34.1% of subjects qualified for intervention based on the ATP II Guidelines and 63.4% based on ATP III (chi1(2) test=4.53; 2-tailed, P=.003). Seventy-six percent (31/41) of study participants had high-density lipoprotein cholesterol levels below the high-risk criterion of 40 mg/dL established by ATP III. Almost one third of subjects had hypertension, and 34.1% satisfied criteria for diagnosis of the metabolic syndrome. A high percentage of young, apparently healthy people with chronic paraplegia are at risk for cardiovascular disease and qualify for lipid-lowering TLI. Updated guidelines of the ATP III have increased the urgency for early risk assessment and intervention.

  4. Lipid Profiles of Persons With Paraplegia and Tetraplegia: Sex Differences

    PubMed Central

    Schmid, Andreas; Knöebber, Judith; Vogt, Stefan; König, Daniel; Deibert, Peter; Bültermann, Dirk; Heinrich, Lothar; Baumstark, Manfred W; Berg, Aloys; Storch, Max-Jürgen

    2008-01-01

    Background/Objective: To examine the lipoprotein profiles of men and women with paraplegia and tetraplegia. Impairment of the sympathetic nervous system (dependent on the level of injury) and the extent of physical capacity and activity were correlated with the lipid profile in men with spinal cord injury (SCI). Sex-related differences of the lipoprotein profiles could be found in nondisabled and premenopausal women with SCI mainly because of the different effects of sexual hormones. Methods: Lipoprotein profiles of 112 participants with SCI (32 premenopausal women, 80 men) were analyzed and correlated to sex, lesion level, and physical performance capacity. Results: Women with tetraplegia or paraplegia showed significantly higher levels of high-density lipoprotein and lower ratios of total cholesterol to high-density lipoprotein-cholesterol compared with men with corresponding lesion levels, without a difference in peak oxygen consumption. Concentrations of very-low-density lipoproteins were lower in women with paraplegia than in men with paraplegia; no differences were found in total cholesterol, low-density lipoprotein-cholesterol, and triglycerides. Sex-independent elevations in total cholesterol and low-density lipoprotein-cholesterol were associated with paraplegia, and sex-independent elevations in triglyceride levels were associated with tetraplegia. Conclusions: Persons with SCI showed sex-related differences in their lipoprotein profiles. Independent of physical fitness, the lipoprotein profile of premenopausal women with SCI did not exhibit the adverse lipoprotein characteristics observed in men with SCI, probably because of the influence of sexual hormones independent of lesion level. PMID:18795478

  5. Acute aortic dissection presenting as painless paraplegia: a case report.

    PubMed

    Hdiji, Olfa; Bouzidi, Nouha; Damak, Mariem; Mhiri, Chokri

    2016-04-05

    Acute aortic dissection is an extreme emergency that is generally manifested by violent chest pain irradiating to a patient's back and abdomen. Paraplegia due to spinal cord ischemia and infarction as a presenting manifestation of aortic dissection has been found in 2 to 5% of patients. However, painless paraplegia is exceedingly rare and limited to a few case reports in the literature. We describe a new case with this unusual presentation of aortic dissection and here we emphasize that this condition must be considered in all patients with painless paraplegia. A 70-year-old Arab man with no previous known medical or surgical conditions was hospitalized for brutal heaviness of his lower limbs associated to urinary retention. A neurological examination revealed flaccid paraplegia without sensory disorder. His blood pressure and his pulse were in normal ranges. He was afebrile. His peripheral pulses were not checked. Laboratory investigations eliminated multiple organ failure. Spinal magnetic resonance imaging realized in emergency was normal. He had a cardiopulmonary arrest 1 day after his hospitalization. His autopsy report concluded a type A aortic dissection with an intimal tear at his aortic isthmus with intrapericardial rupture and extension to his intercostal and lumbar arteries. Acute aortic dissection is an extreme emergency that can lead to death unless there is an early diagnosis. It must be considered in any patient with paraplegia even painless. Clinical examination has a major role to play in diagnosing this condition. Apart from the neurological examination, palpation of peripheral pulses and blood pressure measurements in all four limbs is of paramount importance. Then further investigations must be carried out consisting of aortic angiography by computed tomography or by magnetic resonance imaging.

  6. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

    PubMed

    Beetz, Christian; Koch, Nicole; Khundadze, Mukhran; Zimmer, Geraldine; Nietzsche, Sandor; Hertel, Nicole; Huebner, Antje-Kathrin; Mumtaz, Rizwan; Schweizer, Michaela; Dirren, Elisabeth; Karle, Kathrin N; Irintchev, Andrey; Alvarez, Victoria; Redies, Christoph; Westermann, Martin; Kurth, Ingo; Deufel, Thomas; Kessels, Michael M; Qualmann, Britta; Hübner, Christian A

    2013-10-01

    Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival.

  7. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

    PubMed Central

    Beetz, Christian; Koch, Nicole; Khundadze, Mukhran; Zimmer, Geraldine; Nietzsche, Sandor; Hertel, Nicole; Huebner, Antje-Kathrin; Mumtaz, Rizwan; Schweizer, Michaela; Dirren, Elisabeth; Karle, Kathrin N.; Irintchev, Andrey; Alvarez, Victoria; Redies, Christoph; Westermann, Martin; Kurth, Ingo; Deufel, Thomas; Kessels, Michael M.; Qualmann, Britta; Hübner, Christian A.

    2013-01-01

    Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature–inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival. PMID:24051375

  8. STARPROBE: Scientific rationale

    NASA Technical Reports Server (NTRS)

    Underwood, J. H. (Editor); Randolph, J. E. (Editor)

    1982-01-01

    The scientific rationale and instrumentation problems in the areas of solar internal dynamics and relativity, solar plasma and particle dynamics, and solar atmosphere structure were studied. Current STARPROBE mission and system design concepts are summarized.

  9. [Anesthetic management of a patient with hereditary spastic paraplegia].

    PubMed

    Kunisawa, Takayuki; Takahata, Osamu; Takayama, Koji; Sengoku, Kazufumi; Suzuki, Akihiro; Iwasaki, Hiroshi

    2002-01-01

    We experienced the anesthetic management of a 39 year-old-male with hereditary spastic paraplegia (HSP) associated with pain due to pes cavus. He underwent orthomorphia ostectomy and tenodesis. Preoperative neurological examination revealed that he had slight dementia, symptoms of the pyramidal tract, lower limb bathyhypesthesia, and neurogenic bladder in addition to spastic paraplegia, and he was diagnosed as having combined type of HSP. Spinocerebellar degeneration is often accompanied with this type of HSP. To avoid the use of muscle relaxants and narcotics, we tried to induce anesthesia with inhalation of nitrous oxide (N2O), oxygen and sevoflurane (sevo). A laryngeal mask (LM) was inserted at the expiratory concentration of sevo 3.5%. Anesthesia was maintained by N2O, oxygen and sevo (2-3%) under spontaneous respiration. The patient recovered from anesthesia after the end of surgery, and the LM was removed smoothly. The patient's respiratory condition was stable, and no problems were found in the postoperative period.

  10. Aortoiliac occlusive disease presenting as sudden onset paraplegia.

    PubMed

    Lai, Chien-Hung; Wang, Cheng-Hsien; Wu, Shih-Yun; Shih, Hong-Mo

    2014-07-01

    Thromboembolism and atherosclerotic stenosis both can cause arterial occlusion. Aortoiliac occlusive disease involving bifurcation of the aortoiliac artery induces symptoms of ischemia such as claudication and pain of buttocks and thighs, decreased bilateral femoral pulses, and impotence. Here, we describe a 58-year-old woman with a past history of atrial fibrillation and lacuna stroke with minimal right side weakness. She presented to our emergency department with sudden onset bilateral pain in the legs and paraplegia. A comprehensive examination revealed paresthesia and decreasing bilateral distal pulses. Computed tomographic imaging showed filling defects over the low abdominal aorta just above the bifurcation of the common iliac artery and bilateral femoral arteries. Acute aortic embolic occlusion was suspected. Her symptoms were resolved after emergent thrombectomy for acute limb ischemia. Physicians need to be aware of aortoiliac embolic occlusive disease which may present as acute paraplegia. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Paraplegia with lumbar artery compression by the diaphragmatic crus.

    PubMed

    Batt, Michel; Rogopoulos, André; Benchimol, Daniel; Chapot, René; Jean-Baptiste, Elixène; Baque, Patrick

    2008-10-01

    The authors report three cases of transient and recurrent paraplegia due to compression of the second right lumbar artery by the diaphragmatic crus. Circumstances of appearance are suggestive when paraplegia occurs in dorsolumbar hyperlordosis and low cardiac output is an associated hemodynamic risk factor. Selective medullary arteriography is indispensable for diagnosis and can demonstrate three signs: an anterior spinal dorsolumbar artery (artery of Adamkiewicz) that does not descend to the conus medullaris; posterior spinal arteries arising from the second lumbar arteries that vascularize the conus medullaris; existence of a tight stenosis on the second right lumbar artery that is aggravated during dynamic maneuvers. Section of the right diaphragmatic crus and release of the second right lumbar artery from the aorta to the fibrous arcade of the psoas permits definitive cure of symptoms.

  12. Muscle selection and walking performance of multichannel FES systems for ambulation in paraplegia.

    PubMed

    Kobetic, R; Triolo, R J; Marsolais, E B

    1997-03-01

    A minimal set of muscles (8 to 16) were identified as candidates for implantation in a clinical system to provide walking function to individuals with complete paraplegia using functional electrical stimulation (FES). Three subjects with complete motor and sensory paraplegia had percutaneous intramuscular electrodes implanted in all major muscles controlling the trunk, hips, knees, and ankles. Stimulation patterns for walking with FES were generated for different sets of eight and 16 muscles. The quality and repeatability of the resulting gait produced by walking patterns consisting of various combinations of muscles were determined. Most eight-channel stimulation patterns resulted in scissoring or insufficient hip flexion, preventing forward progression. One eight-channel system allowed a maximum speed of 0.1 m/s with a cadence of 22 steps/min and a stride length less than 0.3 m. Improved walking performance was observed with 16 channels of stimulation. This ranged from slow step- to gait at 0.1 m/s to smooth reciprocal gait at 0.5 m/s. In all three subjects, the favored combination of 16 channels included erector spinae for trunk extension; gluteus maximus, posterior portion of adductor magnus and hamstrings for hip extension; tensor fasciae latae and either sartorius or iliopsoas for hip flexion; vastus lateralis/intermedius for knee extension; and tibialis anterior/peroneous longus for ankle dorsiflexion. In one subject the 16-channel FES system provided repeatable day-to-day gait averaging 0.4 m/s, 58 steps/min and a stride length at 0.8 m. A maximum repeatable walking distance with 16 channels was 34 m. Multiple 34-m trials were possible with minimal rests between walks. Fatigue of both the hip extensors and upper body was a limiting factor. The selection of target muscles for implantation is critical to the performance of FES systems. This study provides guidelines to muscle selection for walking with FES based on objective measures of gait performance. The

  13. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

    PubMed Central

    Koht, Jeanette; Pihlstrøm, Lasse; Rengmark, Aina H.; Henriksen, Sandra P.; Tallaksen, Chantal M. E.; Toft, Mathias

    2017-01-01

    Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the genetic cause of disease. Pathogenic and likely-pathogenic variants were identified in 20 probands (19%) and variants of uncertain significance in ten probands (10%). Together these accounted for 30 probands (29%) and involved 18 different genes. Among several interesting findings, dominantly inherited KIF1A variants, p.(Val8Met) and p.(Ile27Thr) segregated in two independent families, both presenting with a pure spastic paraplegia phenotype. Two homozygous missense variants, p.(Gly4230Ser) and p.(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. The average disease duration in probands with pathogenic and likely-pathogenic variants was 31 years, ranging from 4 to 51 years. In conclusion, this study confirmed and expanded the clinical phenotypes associated with known disease genes. The results demonstrate that gene panel sequencing and similar sequencing approaches can serve as efficient diagnostic tools for different heterogeneous disorders. Early use of such strategies may help to reduce both costs and time of the diagnostic process. PMID:28362824

  14. Spiritual well-being as predictor of quality of life for adults with paraplegia.

    PubMed

    Finocchiaro, Darlene N; Roth, Patricia A; Connelly, Cynthia D

    2014-01-01

    The promotion of quality of life (QOL) and healthy development across the person's life span can result in long and meaningful lives. The purpose of this study was to examine relationships between spiritual well-being (SWB), depression, and QOL for adults with paraplegia. A descriptive correlational design was used for this study. A purposive sample of 75 participants completed the Ellison's SWB Scale, the Center for Epidemiologic Studies-Depression Scale, and a QOL scale. Quality of life was significantly associated with SWB (r = .47, p = .01), and depression (r = -.59, p = .01), 43% of the variance in QOL was explained by age, gender, length of stay, SWB, and depression (F[5,69] = 10.45, p < .001). Participants with a strong sense of purpose or meaning in life were more likely to experience a higher QOL. Rehabilitation nurses can help guide patients to the discovery of what brings purpose and meaning to their lives. © 2014 Association of Rehabilitation Nurses.

  15. Endovascular coil embolization of segmental arteries prevents paraplegia after subsequent thoracoabdominal aneurysm repair: an experimental model.

    PubMed

    Geisbüsch, Sarah; Stefanovic, Angelina; Koruth, Jacob S; Lin, Hung-Mo; Morgello, Susan; Weisz, Donald J; Griepp, Randall B; Di Luozzo, Gabriele

    2014-01-01

    To test a strategy for minimizing ischemic spinal cord injury after extensive thoracoabdominal aneurysm (TAAA) repair, we occluded a small number of segmental arteries (SAs) endovascularly 1 week before simulated aneurysm repair in an experimental model. Thirty juvenile Yorkshire pigs (25.2 ± 1.7 kg) were randomized into 3 groups. All SAs, both intercostal and lumbar, were killed by a combination of surgical ligation of the lumbar SAs and occlusion of intercostal SAs with thoracic endovascular stent grafting. Seven to 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 SAs 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 death, each segment of spinal cord was graded histologically using the 9-point Kleinman score (0 = normal, 8 = complete necrosis). Hind limb function remained normal after coil embolization. After simulated TAAA repair, paraplegia occurred in 6 of 10 control pigs, but in only 2 of 10 pigs in group 1; no pigs in group 2 had a spinal cord injury. Tarlov scores were significantly better in group 2 (control vs group 1, P = .06; control vs group 2, P = .0002; group 1 vs group 2, P = .05). A dramatic reduction in histologic damage, most prominently in the coiled region, was seen when SAs were embolized before simulated TAAA repair. Endovascular coiling of 2 to 4 SAs prevented paraplegia in an experimental model of extensive hybrid TAAA repair, and helped protect the spinal cord from ischemic histopathologic injury. A clinical trial in a selected patient population at high risk for postoperative spinal cord injury may be appropriate. Copyright © 2014 The American Association for Thoracic Surgery. All rights reserved.

  16. Delayed paraplegia after spinal cord ischemic injury requires caspase-3 activation in mice.

    PubMed

    Kakinohana, Manabu; Kida, Kotaro; Minamishima, Shizuka; Atochin, Dmitriy N; Huang, Paul L; Kaneki, Masao; Ichinose, Fumito

    2011-08-01

    Delayed paraplegia remains a devastating complication after ischemic spinal cord injury associated with aortic surgery and trauma. Although apoptosis has been implicated in the pathogenesis of delayed neurodegeneration, mechanisms responsible for the delayed paraplegia remain incompletely understood. The aim of this study was to elucidate the role of apoptosis in delayed motor neuron degeneration after spinal cord ischemia. Mice were subjected to spinal cord ischemia induced by occlusion of the aortic arch and left subclavian artery for 5 or 9 minutes. Motor function in the hind limb was evaluated up to 72 hours after spinal cord ischemia. Histological studies were performed to detect caspase-3 activation, glial activation, and motor neuron survival in the serial spinal cord sections. To investigate the impact of caspase-3 activation on spinal cord ischemia, outcome of the spinal cord ischemia was examined in mice deficient for caspase-3. In wild-type mice, 9 minutes of spinal cord ischemia caused immediate paraplegia, whereas 5 minutes of ischemia caused delayed paraplegia. Delayed paraplegia after 5 minutes of spinal cord ischemia was associated with histological evidence of caspase-3 activation, reactive astrogliosis, microglial activation, and motor neuron loss starting at approximately 24 to 48 hours after spinal cord ischemia. Caspase-3 deficiency prevented delayed paraplegia and motor neuron loss after 5 minutes of spinal cord ischemia, but not immediate paraplegia after 9 minutes of ischemia. The present results suggest that caspase-3 activation is required for delayed paraplegia and motor neuron degeneration after spinal cord ischemia.

  17. A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

    PubMed

    Miura, Shiroh; Morikawa, Takuya; Fujioka, Ryuta; Kosaka, Kengo; Yamada, Kohei; Hattori, Gohsuke; Motomura, Manabu; Taniwaki, Takayuki; Shibata, Hiroki

    2016-08-01

    Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54-years-old male patient with autosomal recessive SPG. His parents were consanguineous. He needed a wheelchair for transfer due to spastic paraplegia. There was a history of operations for bilateral hallux valgus, thoracic ossification of the yellow ligament, bilateral carpal tunnel syndrome, bilateral ankle contracture, and lumbar spinal canal stenosis. He noticed gait disturbance at age 14. He used a cane for walking in his 40s. On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. By exome sequencing analysis using Agilent SureSelect and Illumina MiSeq, we identified 17,248 homozygous nucleotide variants in the patient. Through the examination of 48 candidate genes known to be responsible for autosomal recessive SPG, we identified a novel homozygous 4-bp deletion, c.914_917delGTAA, p.Ser305Ilefs*2 in exon2 of the DDHD1 gene encoding phosphatidic acid-preferring phospholipase A1 (PA-PLA1). The mutation is expected to cause a frameshift generating a premature stop codon 3-bp downstream from the deletion. In consequence, the DDHD domain that is known to be critical for PLA1 activity is completely depleted in the mutated DDHD1 protein, predicted to be a functionally null mutation of the DDHD1 gene. By Sanger sequencing, we confirmed that both parents are heterozygous for the mutation. This variation was not detected in 474 Japanese control subjects as well as the data of the 1,000G Project. We conclude that the novel mutation in DDHD1 is the causative variant for the SPG28 patient that is the first record of the disease in Japanese population.

  18. Car Transfer and Wheelchair Loading Techniques in Independent Drivers with Paraplegia

    PubMed Central

    Haubert, Lisa Lighthall; Mulroy, Sara J.; Hatchett, Patricia E.; Eberly, Valerie J.; Maneekobkunwong, Somboon; Gronley, Joanne K.; Requejo, Philip S.

    2015-01-01

    Car transfers and wheelchair (WC) loading are crucial for independent community participation in persons with complete paraplegia from spinal cord injury, but are complex, physically demanding, and known to provoke shoulder pain. This study aimed to describe techniques and factors influencing car transfer and WC loading for individuals with paraplegia driving their own vehicles and using their personal WCs. Sedans were the most common vehicle driven (59%). Just over half (52%) of drivers place their right leg only into the vehicle prior to transfer. Overall, the leading hand was most frequently placed on the driver’s seat (66%) prior to transfer and the trailing hand was most often place on the WC seat (48%). Vehicle height influenced leading hand placement but not leg placement such that drivers of higher profile vehicles were more likely to place their hand on the driver’s seat than those who drove sedans. Body lift time was negatively correlated with level of injury and age and positively correlated with vehicle height and shoulder abduction strength. Drivers who transferred with their leading hand on the steering wheel had significantly higher levels of shoulder pain than those who placed their hand on the driver’s seat or overhead. The majority of participants used both hands (62%) to load their WC frame, and overall, most loaded their frame into the back (62%) vs. the front seat. Sedan drivers were more likely to load their frame into the front seat than drivers of higher profile vehicles (53 vs. 17%). Average time to load the WC frame (10.7 s) was 20% of the total WC loading time and was not related to shoulder strength, frame weight, or demographic characteristics. Those who loaded their WC frame into the back seat had significantly weaker right shoulder internal rotators. Understanding car transfers and WC loading in independent drivers is crucial to prevent shoulder pain and injury and preserve community participation. PMID:26442253

  19. Car Transfer and Wheelchair Loading Techniques in Independent Drivers with Paraplegia.

    PubMed

    Haubert, Lisa Lighthall; Mulroy, Sara J; Hatchett, Patricia E; Eberly, Valerie J; Maneekobkunwong, Somboon; Gronley, Joanne K; Requejo, Philip S

    2015-01-01

    Car transfers and wheelchair (WC) loading are crucial for independent community participation in persons with complete paraplegia from spinal cord injury, but are complex, physically demanding, and known to provoke shoulder pain. This study aimed to describe techniques and factors influencing car transfer and WC loading for individuals with paraplegia driving their own vehicles and using their personal WCs. Sedans were the most common vehicle driven (59%). Just over half (52%) of drivers place their right leg only into the vehicle prior to transfer. Overall, the leading hand was most frequently placed on the driver's seat (66%) prior to transfer and the trailing hand was most often place on the WC seat (48%). Vehicle height influenced leading hand placement but not leg placement such that drivers of higher profile vehicles were more likely to place their hand on the driver's seat than those who drove sedans. Body lift time was negatively correlated with level of injury and age and positively correlated with vehicle height and shoulder abduction strength. Drivers who transferred with their leading hand on the steering wheel had significantly higher levels of shoulder pain than those who placed their hand on the driver's seat or overhead. The majority of participants used both hands (62%) to load their WC frame, and overall, most loaded their frame into the back (62%) vs. the front seat. Sedan drivers were more likely to load their frame into the front seat than drivers of higher profile vehicles (53 vs. 17%). Average time to load the WC frame (10.7 s) was 20% of the total WC loading time and was not related to shoulder strength, frame weight, or demographic characteristics. Those who loaded their WC frame into the back seat had significantly weaker right shoulder internal rotators. Understanding car transfers and WC loading in independent drivers is crucial to prevent shoulder pain and injury and preserve community participation.

  20. Exercise and gait training in persons with paraplegia and its effect on muscle properties.

    PubMed

    Bhide, Rohit Prakash; Solomons, Cassandra; Devsahayam, Suresh; Tharion, George

    2015-01-01

    Upper extremity strengthening and gait training with orthoses form a major part of inpatient rehabilitation of paraplegic patients in developing countries. This helps to overcome architectural barriers and limited wheelchair accessible environment in the community. To evaluate the changes in physiological properties of the Triceps Brachii muscle following exercise training in individuals with paraplegia. The authors also explored the correlation between muscle property changes and gait parameters using orthoses in paraplegic persons. Twelve subjects with complete paraplegia and neurological level of injury (NLI) from T9 to L1, underwent exercise training for a mean 64.1 ± 4.1 days. Triceps brachii was chosen as the sample muscle. Variables like arm circumference, time to fatigue and mean power frequency (MF) (surface EMG parameter), were recorded at the beginning and the end of training, during a sub-maximal isometric elbow extension. Non-parametric tests were used to assess statistical significance between the two recordings. Additionally, gait parameters like walking speed and distance (with the help of orthoses) were obtained and compared with the above variables, to determine impact of upper extremity strengthening on gait improvements in such patients. Statistically significant changes were noted in bilateral arm circumferences (p= 0.003 bilaterally) and MF drop, expressed as percentage (right p= 0.04, left p= 0.01), indicative of better muscle resilience and adaptation. Significant positive correlation was observed between `time to fatigue' and the orthoses-aided total walking distance (right ρ = 0.65, left ρ = 0.69). Exercise training induces noticeable changes in the muscles of upper extremities favoring better muscle adaptation. Furthermore, positive correlation between `time to fatigue' and (orthotic) aided walking distance highlights the positive impact of strengthening program on gait parameters in paraplegic patients. These findings are important

  1. Clinical indicators of paraplegia underplay universal spinal cord neuronal injury from transient aortic occlusion.

    PubMed

    Bell, Marshall T; Puskas, Ferenc; Bennett, Daine T; Cleveland, Joseph C; Herson, Paco S; Mares, Joshua M; Meng, Xainzhong; Weyant, Michael J; Fullerton, David A; Brett Reece, T

    2015-08-27

    Paraplegia following complex aortic intervention relies on crude evaluation of lower extremity strength such as whether the patient can lift their legs or flex the ankle. Little attention has been given to the possible long-term neurologic sequelae following these procedures in patients appearing functionally normal. We hypothesize that mice subjected to minimal ischemic time will have functional and histological changes despite the gross appearance of normal function. Male mice underwent 3 min of aortic occlusion (n=14) or sham surgery (n=4) via a median sternotomy. Neurologic function was graded by Basso Motor Score (BMS) preoperatively and at 24h intervals after reperfusion. Mice appearing functionally normal and sham mice were placed on a walking beam and recorded on high-definition, for single-frame motion analysis. After 96 hrs, spinal cords were removed for histological analysis. Following 3 min of ischemia, functional outcomes were split evenly with either mice displaying almost normal function n=7 or near complete paraplegia n=7. Additionally, single-frame motion analysis revealed significant changes in gait. Histologically, there was a significant stepwise reduction of neuronal viability, with even the normal function ischemic group demonstrating significant loss of neurons. Despite the appearance of normal function, temporary ischemia induced marked cyto-architectural changes and neuronal degeneration. Furthermore high-definition gait analysis revealed significant changes in gait and activity following thoracic aortic occlusion. These data suggest that all patients undergoing procedures, even with short ischemic times, may have spinal cord injury that is not evident clinically. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis

    PubMed Central

    Krane, Elliot J.; Tomatsu, Shunji; Theroux, Mary C.; Lee, Roland R.

    2014-01-01

    Purpose We describe an instance in which complete paraplegia was evident immediately postoperatively after apparently uneventful lumbar epidural-general anesthesia in a patient with Morquio Type A syndrome (Morquio A) with moderate thoracic spinal stenosis. Clinical features A 16-yr-old male with Morquio A received lumbar epidural-general anesthesia for bilateral distal femoral osteotomies. Preoperative imaging had revealed a stable cervical spine and moderate thoracic spinal stenosis with a mild degree of spinal cord compression. Systolic blood pressure (BP) was maintained within 20% of the pre-anesthetic baseline value. The patient sustained a severe thoracic spinal cord infarction. The epidural anesthetic contributed to considerable delay in the recognition of the diagnosis of paraplegia. Conclusion This experience leads us to suggest that, in patients with Morquio A, it may be prudent to avoid the use of epidural anesthesia without very firm indication, to support BP at or near baseline levels in the presence of even moderate spinal stenosis, and to avoid flexion or extension of the spinal column in intraoperative positioning. If the spinal cord/column status is unknown or if the patient is known to have any degree of spinal stenosis, we suggest that the same rigorous BP support practices that are typically applied in other patients with severe spinal stenosis, especially stenosis with myelomalacia, should apply to patients with Morquio A and that spinal cord neurophysiological monitoring should be employed. In the event that cord imaging is not available, e.g., emergency procedures, it would be prudent to assume the presence of spinal stenosis. PMID:25323122

  3. [Urinary infection in patients with the condition of paraplegia].

    PubMed

    Ramić, Ibrahim

    2004-01-01

    The data were retrospectivelly analyzed conserning the frequency of uroinnfect in person with the paraplegia condition at the institute for physiatry and rehabilitation--the Center for paraplegia of the Clinical center of University in Sarajevo. The analysis was involved 71 (10%) of the patients chosen by the method of the casual choice. Males 57 (80.28%), females 14 (19.71%) of the examimnees. Urolitiazation was found in 22 (30.98%), without urolitization was 49 (69.01%) of patients. The sterile urinoculture were found in only 4 (5.63%) of the patients. The greatest number of the patients 34 (47.88%) he had three and more bacteria in urinoculture. Per two bacterias had 18 (25.35%), with the a one bacteria was 15 (21.12%) of patients. That the degree of the education and enabling of the activities of every day life (AEL) has no essential influence on the seizures of uroinfect shows the result of the research of Barther index where we found 59 (83.09%) of the examinees independent in movement. What are social consequences of this condition when the complications by uroinfect and urocaliculosys can be seen by the hospitalization number at the Institute for the rehabilitation where 29 (40.84%) of the examinees was hospitalized more than three times, 12 (16.90%) three times, 16 (22.90%) and only 14 (19.71%) once. It is considered that the persons with the paraplegia condition if they have no the acute becoming works should perform at least the essential control examinations every six months.

  4. Hereditary spastic paraplegia: clinical principles and genetic advances.

    PubMed

    Fink, John K

    2014-07-01

    Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. Neuropathological studies, albeit limited to only a few genetic types of HSP, have identified axon degeneration involving the distal ends of the corticospinal tracts and fasciculus gracilis fibers. In this review, the author highlights the clinical and genetic features of HSP. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. Simulated paraplegia: an occasional problem for the neurosurgeon.

    PubMed Central

    Maurice-Williams, R S; Marsh, H

    1985-01-01

    Fourteen cases of simulated paraplegia and tetraplegia encountered amongst 4,800 neurosurgical admissions are described. The classification of such cases is difficult. Use of the term "hysteria" depends on whether the behaviour is judged to be conscious or not, but this can rarely be decided. In most of the patients the paralysis was of relatively short duration and recovered rapidly with simple methods of treatment which permitted this to occur without loss of face, but such cases presenting as acute neurological emergencies represent only one relatively simple form of pretended or "hysterical" illness. Many of these patients are probably never seen by psychiatrists. PMID:4031935

  6. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene

    PubMed Central

    Richard, Sébastien; Lavie, Julie; Banneau, Guillaume; Voirand, Nathalie; Lavandier, Karine; Debouverie, Marc

    2017-01-01

    Abstract Rationale: Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31). Patient concerns: A 64-year-old woman presented gait disturbances due to spasticity of the lower limbs progressing since her third decade. Previous investigations failed to find any cause. Interventions: DNA analysis was performed to search for HSP causing mutations. Diagnoses: A novel heterozygote mutation (c.595 + 1G>A) of the REEP1 gene, within the splice site of intron 6, was discovered. This nucleotide change causes exon 6 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. Outcomes: REEP1 is a known protein predominantly located in the upper motor neurons. Mutation of REEP1 primary affects the longest axons explaining predominance of pyramidal syndrome on lower limbs. Lessons: Slow progressive pyramidal syndrome of the lower limbs should elicit a diagnosis of HSP. We describe a novel mutation of the REEP1 gene causing HSP. Pathogeny is based on resulting abnormal REEP1 protein which is involved in the development of longest axons constituting the corticospinal tracts. PMID:28099355

  7. Hereditary spastic paraplegia: More than an upper motor neuron disease.

    PubMed

    Parodi, L; Fenu, S; Stevanin, G; Durr, A

    2017-05-01

    Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases characterized by extreme heterogeneity in both their clinical manifestations and genetic backgrounds. Based on symptoms, HSPs can be divided into pure forms, presenting with pyramidal signs leading to lower-limb spasticity, and complex forms, when additional neurological or extraneurological symptoms are detected. The clinical diversity of HSPs partially reflects their underlying genetic backgrounds. To date, 76 loci and 58 corresponding genes [spastic paraplegia genes (SPGs)] have been linked to HSPs. The genetic diagnosis is further complicated by the fact that causative mutations of HSP can be inherited through all possible modes of transmission (autosomal-dominant and -recessive, X-linked, maternal), with some genes showing multiple inheritance patterns. The pathogenic mutations of SPGs primarily lead to progressive degeneration of the upper motor neurons (UMNs) comprising corticospinal tracts. However, it is possible to observe lower-limb muscle atrophy and fasciculations on clinical examination that are clear signs of lower motor neuron (LMN) involvement. The purpose of this review is to classify HSPs based on their degree of motor neuron involvement, distinguishing forms in which only UMNs are affected from those involving both UMN and LMN degeneration, and to describe their differential diagnosis from diseases such as amyotrophic lateral sclerosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Sitting balance and limits of stability in persons with paraplegia.

    PubMed

    Serra-Añó, P; Pellicer-Chenoll, M; Garcia-Massó, X; Brizuela, G; García-Lucerga, C; González, L M

    2013-04-01

    Cross-sectional, observational study of paraplegic and able-bodied persons. The aim of the study was to analyse the temporal and frequency domains of seated balance to better understand nervous system control in equilibrium in persons with spinal cord injury (SCI) and to explore their centre of pressure (CoP) limits before experiencing a fall. University of Valencia, Spain. Static and dynamic seated balance were assessed in 24 paraplegic persons divided into two groups: low paraplegia group (LP) and high paraplegia group (HP), and 24 healthy volunteers with an extensiometric force plate. Two types of tests were performed: a static test (ST), where data signal was analysed by temporal and frequency domains, and a stability limit test (SLT), where different stability limits were calculated. The paraplegic group revealed lower static postural control in both domains in most of the parameters analysed compared with the control group (CG). Similar results were obtained with regard to the SLT, showing differences in the three parameters analysed between the CG and SCI groups. Posturographic assessment in ST was useful to explore nervous system control in equilibrium in this population, presenting a decreased balance in paraplegic groups and an altered pattern in the sensorial and cerebellum bands compared with able-bodied individuals. Furthermore, SLT indicated less movement control of the CoP in paraplegic groups, which may influence the performance of their daily activities.

  9. Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.

    PubMed

    Hans, Sachinder S; Ngo, William; McAllister, Michael

    2014-02-01

    Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Factors associated with recovery from paraplegia in dogs with loss of pain perception in the pelvic limbs following intervertebral disk herniation.

    PubMed

    Jeffery, Nick D; Barker, Andrew K; Hu, Hilary Z; Alcott, Cody J; Kraus, Karl H; Scanlin, Elizabeth M; Granger, Nicolas; Levine, Jonathan M

    2016-02-15

    To investigate associations between recovery of locomotion and putative prognostic factors in dogs with loss of deep pain perception in the pelvic limbs caused by intervertebral disk herniation (IVDH). Prospective cohort study. 78 client-owned dogs evaluated for IVDH that underwent spinal decompression surgery. Dogs with complete loss of deep pain perception in the pelvic limbs and tail underwent routine examinations, advanced imaging, and spinal decompression surgery in accordance with standards of practice and owner consent. For each dog, information was prospectively collected on duration of clinical signs prior to onset of paraplegia; delay between onset of paraplegia and initial referral evaluation; date of recovery of locomotion, death, or euthanasia (3-month follow-up period); and whether dogs had received corticosteroid drugs before surgery. Severity of spinal cord compression at the lesion epicenter was measured via CT or MRI. 45 of 78 (58%) of dogs recovered the ability to ambulate independently within 3 months after spinal decompression surgery. No evidence of prognostic value was identified for any of the investigated factors; importantly, a greater delay between onset of paraplegia and referral evaluation was not associated with a poorer prognosis. In this group of dogs with IVDH, immediacy of surgical treatment had no apparent association with outcome. The prognosis for recovery may instead be strongly influenced by the precise nature of the initiating injury.

  11. Behcet's disease presenting with sudden-onset paraplegia due to anterior spinal artery involvement: 1-year follow-up of rehabilitation in conjunction with medication.

    PubMed

    Duman, Iltekin; Guzelkucuk, Umut; Tezel, Kutay; Aydemir, Koray; Yılmaz, Bilge

    2013-06-01

    A 26-year-old male patient with sudden-onset paraplegia was presented. Clinical and imaging evaluation revealed isolated spinal cord lesions at thoracal levels and anterior spinal arterial involvement. Diagnosis of Behcet's disease was established with associating clinical findings with medical history. Vigorous medication and rehabilitation program were performed. Through the 1-year rehabilitation period in conjunction with medication, strength and functions improved gradually. A satisfactory functional gain as a rehabilitative goal in independence in activities of daily living and long-distance ambulation achieved around 4 months. The patient reached full independence after 1-year. As conclusion, Behcet's disease can present with sudden-onset paraplegia. In case of no evident etiology for paraplegia in young male, neuro-Behcet's disease also should be kept in mind. Contrary to assumption, early aggressive treatment and continuous rehabilitation in conjunction with medication might provide good prognosis with excellent clinical outcome in spinal cord involvement. Satisfactory functional recovery should be expected only after 3-4 months, and complete independence can be achieved after 1 year.

  12. 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

  13. [A Case of Postoperative Paraplegia Caused by Idiopathic Spinal Cord Infarction following Hepatectomy under Both General and Epidural Anesthesia].

    PubMed

    Koga, Yukari; Hiraki, Teruyuki; Ushijima, Kazuo

    2015-04-01

    A 73-year-old woman (height : 155 cm, weight : 55 kg) was scheduled to undergo a laparotomic hepatectomy and radiofrequency ablation for hepatocellular carcinoma. Her medical history did not include any relevant conditions such as cardiovascular or neurological disorders. A thoracic epidural catheter was introduced at T8-9 before the induction of anesthesia with intravenous propofol. General anesthesia was maintained with the inhalation of oxygen, air, and desflurane, and the continuous infusion of remifentanil. Several intraoperative episodes of mild hypotension occurred, each of which was successfully treated with intravenous ephedrine, but otherwise her anesthetic course was uneventful, and she recovered from the anesthesia smoothly. Her postoperative pain was well controlled with continuous epidural infusion of levobupivacaine and fentanyl, and she could walk by herself on postoperative day (POD) 1. However, she suffered weakness in her lower extremities on POD2 and subsequently fell into complete paraplegia with sensory loss below the T4 level on POD3. A magnetic resonance imaging scan taken on POD4 showed an idiopathic spinal cord infarction (SCI) involving levels T1 through T4, although no epidural abnormalities, e.g., hematomas, were detected. Immediate treatment with methylprednisolone, ozagrel, and edaravone failed to resolve her symptoms. We suggest that it is of great importance to consider SCI as a differential diagnosis as soon as possible in cases of unanticipated postoperative paraplegia.

  14. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

    PubMed Central

    Ylikallio, Emil; Kim, Doyoun; Isohanni, Pirjo; Auranen, Mari; Kim, Eunjoon; Lönnqvist, Tuula; Tyynismaa, Henna

    2015-01-01

    Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense variants cause developmental delay or intellectual disability, cerebellar atrophy and variable spasticity. We describe a family with father-to-son transmission of de novo variant in the KIF1A motor domain, in a phenotype of pure spastic paraplegia. Structural modeling of the predicted p.(Ser69Leu) amino acid change suggested that it impairs the stable binding of ATP to the KIF1A protein. Our study reports the first dominantly inherited KIF1A variant and expands the spectrum of phenotypes caused by heterozygous KIF1A motor domain variants to include pure spastic paraplegia. We conclude that KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern. PMID:25585697

  15. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

    PubMed

    Ylikallio, Emil; Kim, Doyoun; Isohanni, Pirjo; Auranen, Mari; Kim, Eunjoon; Lönnqvist, Tuula; Tyynismaa, Henna

    2015-10-01

    Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense variants cause developmental delay or intellectual disability, cerebellar atrophy and variable spasticity. We describe a family with father-to-son transmission of de novo variant in the KIF1A motor domain, in a phenotype of pure spastic paraplegia. Structural modeling of the predicted p.(Ser69Leu) amino acid change suggested that it impairs the stable binding of ATP to the KIF1A protein. Our study reports the first dominantly inherited KIF1A variant and expands the spectrum of phenotypes caused by heterozygous KIF1A motor domain variants to include pure spastic paraplegia. We conclude that KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern.

  16. Unusual presentation of aortic dissection: post-coital acute paraplegia with renal failure.

    PubMed

    Galabada, Dinith P; Nazar, Abdul L M

    2014-09-01

    We report the case of a 45-year-old chronic smoker who presented with acute paraplegia occurring during coitus and subsequently developed acute renal failure (ARF) requiring dialysis. He had absent peripheral pulses in the lower limbs with evidence of acute ischemia. Doppler study showed dissecting aneurysm of thoracic aorta, thrombotic occlusion of the distal aorta from L1 level up to bifurcation and occlusion of the right renal artery by a thrombus that was confirmed by magnetic resonance imaging of the spine. He was not subjected to any vascular intervention as his lower limbs were not salvageable due to delay in the diagnosis. Post-coital aortic dissection and aortic dissection presenting with acute paraplegia and ARF are very rare. This is probably the first case report with post-coital acute aortic dissection presenting with paraplegia and ARF. This case emphasizes the importance of a careful examination of peripheral pulses in patients presenting with ARF and paraplegia.

  17. Paraplegia following cervical epidural catheterization using loss of resistance technique with air: a case report.

    PubMed

    Chae, Yun Jeong; Han, Kyung Ream; Park, Hyung Bae; Kim, Chan; Nam, Si Gweon

    2016-02-01

    We report a case of paraplegia without neurologic deficit of upper extremities following cervical epidural catheterization using air during the loss of resistance technique. A 41-year-old woman diagnosed with complex regional pain syndrome had upper and lower extremity pain. A thoracic epidural lead was inserted for a trial spinal cord stimulation for treating lower extremity pain and cervical epidural catheterization was performed for treating upper extremity pain. Rapidly progressive paraplegia developed six hours after cervical epidural catheterization. Spine CT revealed air entrapment in multiple thoracic intervertebral foraminal spaces and surrounding epidural space without obvious spinal cord compression before the decompressive operation, which disappeared one day after the decompressive operation. Her paraplegia symptoms were normalized immediately after the operation. The presumed cause of paraplegia was transient interruption of blood supply to the spinal cord through the segmental radiculomedullary arteries feeding the spinal cord at the thoracic level of the intervertebral foramen caused by the air.

  18. DOE LLW classification rationale

    SciTech Connect

    Flores, A.Y.

    1991-09-16

    This report was about the rationale which the US Department of Energy had with low-level radioactive waste (LLW) classification. It is based on the Nuclear Regulatory Commission`s classification system. DOE site operators met to review the qualifications and characteristics of the classification systems. They evaluated performance objectives, developed waste classification tables, and compiled dose limits on the waste. A goal of the LLW classification system was to allow each disposal site the freedom to develop limits to radionuclide inventories and concentrations according to its own site-specific characteristics. This goal was achieved with the adoption of a performance objectives system based on a performance assessment, with site-specific environmental conditions and engineered disposal systems.

  19. DOE LLW classification rationale

    SciTech Connect

    Flores, A.Y.

    1991-09-16

    This report was about the rationale which the US Department of Energy had with low-level radioactive waste (LLW) classification. It is based on the Nuclear Regulatory Commission's classification system. DOE site operators met to review the qualifications and characteristics of the classification systems. They evaluated performance objectives, developed waste classification tables, and compiled dose limits on the waste. A goal of the LLW classification system was to allow each disposal site the freedom to develop limits to radionuclide inventories and concentrations according to its own site-specific characteristics. This goal was achieved with the adoption of a performance objectives system based on a performance assessment, with site-specific environmental conditions and engineered disposal systems.

  20. Delayed paraplegia after spinal cord Ischemic injury requires caspase-3 activation in mice

    PubMed Central

    Kakinohana, Manabu; Kida, Kotaro; Minamishima, Shizuka; Atochin, Dmitriy N.; Huang, Paul L.; Kaneki, Masao; Ichinose, Fumito

    2011-01-01

    Background and purpose Delayed paraplegia remains a devastating complication after ischemic spinal cord injury associated with aortic surgery and trauma. While apoptosis has been implicated in the pathogenesis of delayed neurodegeneration, mechanisms responsible for the delayed paraplegia remain incompletely understood. The aim of this study was to elucidate the role of apoptosis in delayed motor neuron degeneration after spinal cord ischemia. Methods Mice were subjected to spinal cord ischemia induced by occlusion of the aortic arch and left subclavian artery for 5 or 9 min. Motor function in the hind limb was evaluated up to 72h after spinal cord ischemia. Histological studies were performed to detect caspase-3 activation, glial activation, and motor neuron survival in the serial spinal cord sections. To investigate the impact of caspase-3 activation on spinal cord ischemia, outcome of the spinal cord ischemia was examined in mice deficient for caspase-3. Results In wild-type mice, 9 min of spinal cord ischemia caused immediate paraplegia, whereas 5 min of ischemia caused delayed paraplegia. Delayed paraplegia after 5 min of spinal cord ischemia was associated with histological evidence of caspase-3 activation, reactive astrogliosis, microglial activation, and motor neuron loss starting around 24–48h after spinal cord ischemia. Caspase-3 deficiency prevented delayed paraplegia and motor neuron loss after 5 min of spinal cord ischemia, but not immediate paraplegia after 9 min of ischemia. Conclusion The present results suggest that caspase-3 activation is required for delayed paraplegia and motor neuron degeneration after spinal cord ischemia. PMID:21700940

  1. Successful staged operation for acute type A aortic dissection with paraplegia.

    PubMed

    Ando, Takashi; Abe, Hiroyuki; Nagata, Tokuichiro; Makuuchi, Haruo

    2013-06-01

    A 75-year-old man presented with both paraplegia and acute occlusion of the abdominal aorta at onset. Extraanatomical bypass was performed following spinal drainage. After 3 days, the ascending aorta replaced under cardiopulmonary bypass using the extraanatomical bypass graft for arterial cannulation. The abdominal aorta was replaced after 6 months. A staged operation is one of the options for acute aortic dissection with paraplegia and acute occlusion of the abdominal aorta.

  2. A multicentric randomized controlled trial on the impact of lengthening the interval between neoadjuvant radiochemotherapy and surgery on complete pathological response in rectal cancer (GRECCAR-6 trial): rationale and design

    PubMed Central

    2013-01-01

    Background Neoadjuvant radiochemotherapy (RCT) is now part of the armamentarium of cancer of the lower and middle rectum. It is recommended in current clinical practice prior to surgical excision if the lesion is classified T3/T4 or N+. Histological complete response, defined by the absence of persistent tumor cell invasion and lymph node (ypT0N0) after pathological examination of surgical specimen has been shown to be an independent prognostic factor of overall survival and disease-free survival. Surgical excision is usually performed between 6 and 8 weeks after completion of CRT and pathological complete response rate ranges around 12%. In retrospective studies, a lengthening of the interval after RCT beyond 10 weeks was found as an independent factor increasing the rate of pathological complete response (between 26% and 31%), with a longer disease-free survival and without increasing the operative morbidity. The aim of the present study is to evaluate in 264 patients the rate of pathological complete response rate of rectal cancer after RCT by lengthening the time between RCT and surgery. Methods/design The current study is a multicenter randomized trial in two parallel groups comparing 7 and 11 weeks of delay between the end of RCT and cancer surgery of rectal tumors. At the end of the RCT, surgery is planified and randomization is performed after patient’s written consent for participation. The histological complete response (ypT0N0) will be determined with analysis of the complete residual tumor and double reading by two pathologists blinded of the group of inclusion. Patients will be followed in clinics for 5 years after surgery. Participation in this trial does not change patient’s management in terms of treatment, investigations or visits. Secondary endpoints will include overall and disease free survival, rate of sphincter conservation and quality of mesorectal excision. The number of patients needed is 264. Trial registration Clinical

  3. Spontaneous spinal epidural hematoma presenting as paraplegia after cardiac surgery.

    PubMed

    Kin, Hajime; Mukaida, Masayuki; Koizumi, Junichi; Kamada, Takeshi; Mitsunaga, Yoshino; Iwase, Tomoyuki; Ikai, Akio; Okabayashi, Hitoshi

    2016-03-01

    An 86-year-old woman was scheduled to undergo aortic valve replacement and coronary artery bypass graft. On postoperative day 3, she developed sudden-onset neck pain followed by weakness in the right arm. Her symptoms worsened with time, and she developed paraplegia. At 60 h after the first complaint, spontaneous spinal epidural hematoma (SSEH) from C2 to C6 with spinal cord compression was diagnosed from a magnetic resonance image of the cervical region. We decided on conservative therapy because operative recovery was impossible. Delayed diagnosis led to grievous results in the present case. When neurological abnormalities follow neck or back pain after open heart surgery, SSEH must be considered in the differential diagnosis. Further, if it is suspected, early cervical computed tomography/magnetic resonance imaging and surgery should be considered.

  4. 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

  5. Modeling of axonal endoplasmic reticulum network by spastic paraplegia proteins.

    PubMed

    Yalçın, Belgin; Zhao, Lu; Stofanko, Martin; O'Sullivan, Niamh C; Kang, Zi Han; Roost, Annika; Thomas, Matthew R; Zaessinger, Sophie; Blard, Olivier; Patto, Alex L; Sohail, Anood; Baena, Valentina; Terasaki, Mark; O'Kane, Cahir J

    2017-07-25

    Axons contain a smooth tubular endoplasmic reticulum (ER) network that is thought to be continuous with ER throughout the neuron; the mechanisms that form this axonal network are unknown. Mutations affecting reticulon or REEP proteins, with intramembrane hairpin domains that model ER membranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP). We show that Drosophila axons have a dynamic axonal ER network, which these proteins help to model. Loss of HSP hairpin proteins causes ER sheet expansion, partial loss of ER from distal motor axons, and occasional discontinuities in axonal ER. Ultrastructural analysis reveals an extensive ER network in axons, which shows larger and fewer tubules in larvae that lack reticulon and REEP proteins, consistent with loss of membrane curvature. Therefore HSP hairpin-containing proteins are required for shaping and continuity of axonal ER, thus suggesting roles for ER modeling in axon maintenance and function.

  6. Clinical and genetic study of hereditary spastic paraplegia in Canada

    PubMed Central

    Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Dion, Patrick A.; Ray, Peter N.; Suchowersky, Oksana; Rouleau, Guy A.

    2016-01-01

    Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. Methods: We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics. The main outcome measure for a subset of the cohort (n = 48) was the Spastic Paraplegia Rating Scale. We also used the SPATAX-EUROSPA disability stage (disability score) to assess disability (n = 65). Results: A total of 526 patients were identified with HSP across the country, and 150 patients had a confirmed genetic diagnosis. Mutations were identified in 15 different genes; the most common were SPAST (SPG4, 48%), ATL1 (SPG3A, 16%), SPG11 (8%), SPG7 (7%), and KIAA0196 (SPG8, 5%). The diagnosis of SPG4 was associated with older age at symptom onset (p = 0.0017). SPG4 and SPG3A were less associated with learning disabilities compared to other subtypes of HSP, and SPG11 was strongly associated with progressive cognitive deficits (odds ratio 87.75, 95% confidence interval 14.04–548.24, p < 0.0001). SPG3A was associated with better functional outcomes compared to other HSP subtypes (p = 0.04) on multivariate analysis. The strongest predictor of significant disability was abnormal brain MRI (p = 0.014). Conclusions: The most important predictors of disability in our HSP cohort were SPG11 mutations and abnormal brain MRI. Accurate molecular characterization of well-phenotyped cohorts and international collaboration are essential to establish the natural history of these rare neurodegenerative disorders. PMID:27957547

  7. Aeromedical Evaluation for an F-16 Candidate with Incomplete Paraplegia.

    PubMed

    Chahal-Kummen, Monica; Strand, Trond-Eirik; Owe, Jan Ove; Gulliksen, Eigil; Wagstaff, Anthony S

    A candidate with paraplegia contacted the Institute of Aviation Medicine, Oslo, requesting a medical examination and medical certification for flying back seat on an F-16 Fighting Falcon. Thorough aeromedical examinations, including specialist evaluations, were initiated for the final decision to be made. Almost 13 yr earlier the candidate had acquired spinal cord damage at neurological level L1 after falling 4 m (13 ft) from out of a window. The CT scans showed luxation of the 12(th) thoracic vertebra with fracture and dislocation of the 1(st) lumbar vertebra. He went for surgery, where fixation of the 12(th) thoracic vertebra to the 1(st) lumbar vertebra was performed. He developed syringomyelia 1 yr postoperatively and was re-operated on twice in the following years. He was now in a wheelchair, but engaged himself in several sport activities such as sledge-hockey and sit-skiing, participating in several Paralympics. With respect to the general principles of aviation medicine, several considerations had to be taken into account before a medical certification could be given. The risks associated with an F-16 flight in relationship to the candidate's general health and the fixation of his spinal cord had to be evaluated. Also, his ability to perform required tasks during the flight and in case of an emergency was an important issue discussed. Finally, the candidate's medical and physical condition should not present a considerable risk to flight safety. After extensive specialist consultations and in-depth discussions, the candidate was given medical certification to fly back seat in a F-16. Chahal-Kummen M, Strand T-E, Owe JO, Gulliksen E, Wagstaff AS. Aeromedical evaluation for an F-16 candidate with incomplete paraplegia. Aerosp Med Hum Perform. 2016; 87(11):968-971.

  8. A muscle-driven approach to restore stepping with an exoskeleton for individuals with paraplegia.

    PubMed

    Chang, Sarah R; Nandor, Mark J; Li, Lu; Kobetic, Rudi; Foglyano, Kevin M; Schnellenberger, John R; Audu, Musa L; Pinault, Gilles; Quinn, Roger D; Triolo, Ronald J

    2017-05-30

    Functional neuromuscular stimulation, lower limb orthosis, powered lower limb exoskeleton, and hybrid neuroprosthesis (HNP) technologies can restore stepping in individuals with paraplegia due to spinal cord injury (SCI). However, a self-contained muscle-driven controllable exoskeleton approach based on an implanted neural stimulator to restore walking has not been previously demonstrated, which could potentially result in system use outside the laboratory and viable for long term use or clinical testing. In this work, we designed and evaluated an untethered muscle-driven controllable exoskeleton to restore stepping in three individuals with paralysis from SCI. The self-contained HNP combined neural stimulation to activate the paralyzed muscles and generate joint torques for limb movements with a controllable lower limb exoskeleton to stabilize and support the user. An onboard controller processed exoskeleton sensor signals, determined appropriate exoskeletal constraints and stimulation commands for a finite state machine (FSM), and transmitted data over Bluetooth to an off-board computer for real-time monitoring and data recording. The FSM coordinated stimulation and exoskeletal constraints to enable functions, selected with a wireless finger switch user interface, for standing up, standing, stepping, or sitting down. In the stepping function, the FSM used a sensor-based gait event detector to determine transitions between gait phases of double stance, early swing, late swing, and weight acceptance. The HNP restored stepping in three individuals with motor complete paralysis due to SCI. The controller appropriately coordinated stimulation and exoskeletal constraints using the sensor-based FSM for subjects with different stimulation systems. The average range of motion at hip and knee joints during walking were 8.5°-20.8° and 14.0°-43.6°, respectively. Walking speeds varied from 0.03 to 0.06 m/s, and cadences from 10 to 20 steps/min. A self-contained muscle

  9. Energy balance components in persons with paraplegia: daily variation and appropriate measurement duration.

    PubMed

    Nightingale, Tom E; Williams, Sean; Thompson, Dylan; Bilzon, James L J

    2017-09-26

    Despite obesity being highly prevalent in persons with spinal cord injury (SCI), our current understanding of the interactions between energy balance components, which may contribute to this, is limited. The primary aim of this study is to identify the intra-individual variability of physical activity dimensions across days and suggest an appropriate monitoring time frame for these constructs in adults with SCI. The secondary aim is to examine these parameters with regard to energy intake and dietary macronutrient composition. Participants [33 men and women with chronic (> 1 year post injury) paraplegia; age = 44 ± 9 years (mean ± S.D.] wore an Actiheart™ PA monitor and completed a weighed food diary for 7 consecutive days. Spearman-Brown Prophecy Formulae, based on Intraclass Correlations of .80 (acceptable reliability), were used to predict the number of days required to measure energy balance components. Linear mixed-effects analyses and magnitude-based inferences were performed for all energy intake, expenditure and physical activity dimensions. Adjustments were made for age, injury level, wear time, sex, day of the week and measurement order as fixed effects. To reliably measure energy expenditure components; 1 day [total energy expenditure (TEE)], 2 days [physical activity energy expenditure (PAEE), light-intensity activity, moderate-to-vigorous PA (MVPA)], 3 days [physical activity level (PAL)] and 4 days (sedentary behaviour) are necessary. Device wear time (P < 0.02), injury level (P < 0.04) and sex (P < 0.001) were covariates for energy expenditure components. Four and ≤24 days are required to reliably measure total energy intake (kcal) and diet macronutrient composition (%), respectively. Measurement order (from day 1-7) was a covariate for total energy intake (P = 0.01). This is the first study to demonstrate the variability of energy intake and expenditure components in free-living persons with chronic (> 1 year) paraplegia

  10. Mouthwashes: Rationale for use.

    PubMed

    Ciancio, Sebastian G

    2015-09-01

    To update the rationale for the use of mouthwashes and summarize data on the incorporation of an antibacterial, cetylpyridinium chloride (CPC), into a new mouthwash formulation. Data from various published articles are reviewed which demonstrate the value of mouthwashes. Also this Special Issue provides research supporting the efficacy of 0.075% cetylpyridinium chloride in a new, alcohol-free mouthwash formulation (Colgate Total). Benefits of mouthwashes include improving the reduction of plaque biofilm as an adjunct to oral hygiene, killing bacteria in areas difficult to reach by normal oral hygiene, killing bacteria on non-tooth oral surfaces, reaching bacteria subgingivally by placement in an irrigator, and supporting a positive effect on oral health by reducing bacteremia from oral micro-organisms. The benefits of including CPC in this new formulation are demonstrated by in vitro and clinical studies which demonstrate the efficacy of this formulation of CPC on biofilm as well as an effect on the reduction of plaque and gingivitis in three clinical studies.

  11. The ENRICH Study to evaluate the effectiveness of a combination intervention package to improve isoniazid preventive therapy initiation, adherence and completion among people living with HIV in Ethiopia: rationale and design of a mixed methods cluster randomized trial.

    PubMed

    Howard, Andrea A; Hirsch-Moverman, Yael; Saito, Suzue; Gadisa, Tsigereda; Daftary, Amrita; Melaku, Zenebe

    2017-06-01

    Isoniazid preventive therapy (IPT) prevents tuberculosis among HIV-positive individuals, however implementation is suboptimal. Implementation science studies are needed to identify interventions to address this evidence-to-program gap. The ENRICH Study is a mixed methods cluster randomized trial aimed at evaluating the effectiveness and acceptability of a combination intervention package (CIP) to improve IPT implementation in Ethiopia. Ten health centers were randomized to receive the CIP or standard of care. The CIP includes: nurse training and mentorship using a clinical algorithm, tool to identify IPT-eligible family members, and data review at multidisciplinary team meetings; patient transport reimbursement; and adherence support using peer educators and interactive voice response messages. Routine data were abstracted for all newly-enrolled IPT-eligible HIV-positive patients; anticipated sample size was 1400 individuals. A measurement cohort of patients initiating IPT was recruited; target enrollment was 500 individuals, to be followed for the duration of IPT (6-9 months). Inclusion criteria were: HIV-positive; initiated IPT; age ≥18; Amharic-, Oromiffa-, Harari-, or Somali-speaking; and capable of informed consent. Three groups were recruited from CIP health centers for in-depth interviews: IPT initiators; IPT non-initiators; and health care providers. Primary outcomes are: IPT initiation; and IPT completion. Secondary outcomes include: retention; adherence; change in CD4+ count; adverse events; and acceptability. Follow-up is complete. The ENRICH Study evaluates a CIP targeting barriers to IPT implementation. If the CIP is found effective and acceptable, this study has the potential to inform TB prevention strategies for HIV patients in resource-limited countries in sub-Saharan Africa.

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

    PubMed

    Kannan, Karthik Kailash; Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

    2015-03-01

    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.

  13. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

    PubMed Central

    Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan; Datiles, Manuel B.; Roda, Ricardo H.; Liepert, Joachim; Züchner, Stephan; Mariotti, Caterina; De Jonghe, Peter; Blackstone, Craig

    2016-01-01

    Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with homozygous or compound heterozygous sequence variants predicted to be deleterious. Methods: We performed clinical, radiologic, and pathologic studies in 6 patients with biallelic mutations in AP5Z1. Results: In 4 of the 6 patients, there was complete loss of AP-5 ζ protein. Clinical features encompassed not only prominent spastic paraparesis but also sensory and motor neuropathy, ataxia, dystonia, myoclonus, and parkinsonism. Skin fibroblasts from affected patients tested positive for periodic acid Schiff and autofluorescent storage material, while electron microscopic analysis demonstrated lamellar storage material consistent with abnormal storage of lysosomal material. Conclusions: Our findings expand the spectrum of AP5Z1-associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders. PMID:27606357

  14. 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

  15. A preliminary assessment of legged mobility provided by a lower limb exoskeleton for persons with paraplegia.

    PubMed

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

    2014-05-01

    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.

  16. Improving Shoulder Kinematics in Individuals With Paraplegia: Comparison Across Circuit Resistance Training Exercises and Modifications in Hand Position.

    PubMed

    Riek, Linda M; Tome, Joshua; Ludewig, Paula M; Nawoczenski, Deborah A

    2016-07-01

    Circuit resistance training (CRT) should promote favorable kinematics (scapular posterior tilt, upward rotation, glenohumeral or scapular external rotation) to protect the shoulder from mechanical impingement following paraplegia. Understanding kinematics during CRT may provide a biomechanical rationale for exercise positions and exercise selection promoting healthy shoulders. The purposes of this study were: (1) to determine whether altering hand position during CRT favorably modifies glenohumeral and scapular kinematics and (2) to compare 3-dimensional glenohumeral and scapular kinematics during CRT exercises. The hypotheses that were tested were: (1) modified versus traditional hand positions during exercises improve kinematics over comparable humerothoracic elevation angles, and (2) the downward press demonstrates the least favorable kinematics. This was a cross-sectional observational study. The participants were 18 individuals (14 men, 4 women; 25-76 years of age) with paraplegia. An electromagnetic tracking system acquired 3-dimensional position and orientation data from the trunk, scapula, and humerus during overhead press, chest press, overhead pulldown, row, and downward press exercises. Participants performed exercises in traditional and modified hand positions. Descriptive statistics and 2-way repeated-measures analysis of variance were used to evaluate the effect of modifications and exercises on kinematics. The modified position improved kinematics for downward press (glenohumeral external rotation increased 4.5° [P=.016; 95% CI=0.7, 8.3] and scapular external rotation increased 4.4° [P<.001; 95% CI=2.5, 6.3]), row (scapular upward rotation increased 4.6° [P<.001; 95% CI=2.3, 6.9]), and overhead pulldown (glenohumeral external rotation increased 18.2° [P<.001, 95% CI=16, 21.4]). The traditional position improved kinematics for overhead press (glenohumeral external rotation increased 9.1° [P=.001; 95% CI=4.1, 14.1], and scapular external rotation

  17. Cardiovascular disease risk factors in persons with paraplegia: the Stockholm spinal cord injury study.

    PubMed

    Wahman, Kerstin; Nash, Mark S; Westgren, Ninni; Lewis, John E; Seiger, Ake; Levi, Richard

    2010-03-01

    To examine cardiovascular disease risk factors and risk clusters in Swedish persons with traumatic wheelchair-dependent paraplegia. Prospective examination. A total of 135 individuals aged 18-79 years with chronic (>or= 1 year) post-traumatic paraplegia. Cardiovascular disease risk factors; dyslipidemia, impaired fasting glucose, hypertension, overweight, smoking, and medication usage for dyslipidemia, hypertension, and diabetes mellitus, were analyzed according to authoritative guidelines. Stepwise regression tested the effects of age, gender, and injury characteristics on cardiovascular disease risks. High-prevalence risk factors were dyslipidemia (83.1%), hypertension (39.3%), and overweight (42.2%) with pervasive clustering of these risks. Being older was related to increased cardiovascular disease risk, except for dyslipidemia. Hypertension was more common in low-level paraplegia. Prevalence of impaired fasting glucose was lower than previously reported after paraplegia. A high percentage of persons being prescribed drug treatment for dyslipidemia and hypertension failed to reach authoritative targets for cardiovascular disease risk reduction. Swedish persons with paraplegia are at high risk for dyslipidemia, hypertension, and overweight. Impaired fasting glucose was not as common as reported in some previous studies. Pharmacotherapy for dyslipidemia and hypertension often failed to achieve recommended targets. Population-based screening and therapeutic countermeasures to these cardiovascular disease risks are indicated.

  18. Developmental and Degenerative Features in a Complicated Spastic Paraplegia

    PubMed Central

    Manzini, M Chiara; Rajab, Anna; Maynard, Thomas M; Mochida, Ganeshwaran H; Tan, Wen-Hann; Nasir, Ramzi; Hill, R Sean; Gleason, Danielle; Al Saffar, Muna; Partlow, Jennifer N; Barry, Brenda J; Vernon, Mike; LaMantia, Anthony-Samuel; Walsh, Christopher A

    2010-01-01

    Objective We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay—core features of Troyer syndrome—and a novel mutation in the SPG20 gene, which is also mutated in the Amish. In addition, we analyzed SPG20 expression throughout development to infer how disruption of this gene might generate the constellation of developmental and degenerative Troyer syndrome phenotypes. Methods Clinical characterization of 2 non-Amish families with Troyer syndrome was followed by linkage and sequencing analysis. Quantitative polymerase chain reaction and in situ hybridization analysis of SPG20 expression were carried out in embryonic and adult human and mouse tissue. Results Two Omani families carrying a novel SPG20 mutation displayed clinical features remarkably similar to the Amish patients with Troyer syndrome. SPG20 mRNA is expressed broadly but at low relative levels in the adult brain; however, it is robustly and specifically expressed in the limbs, face, and brain during early morphogenesis. Interpretation Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. Maximal expression of SPG20 in the limb buds and forebrain during embryogenesis may explain the developmental origin of the skeletal and cognitive defects observed in this disorder. ANN NEUROL 2010;67:516–525 PMID:20437587

  19. Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners

    PubMed Central

    Zhao, Jiali; Hedera, Peter

    2015-01-01

    Hereditary spastic paraplegia (HSP) is one of the most heterogeneous neurodegenerative diseases with more than 50 identified genes causing a relatively stereotypical phenotypic presentation. Recent studies of HSP pathogenesis have suggested the existence of shared biochemical pathways that are crucial for axonal maintenance and degeneration. We explored possible interactions of several proteins associated with this condition. Here we report interactions of endogenous and overexpressed strumpellin with another HSP-associated protein, spartin. This biochemical interaction does not appear to be a part of the Wiskott–Aldrich syndrome protein and Scar homologue (WASH) complex because spartin is not co-immunoprecipitated with WASH1 protein. The spartin–strumpellin association does not require the presence of the microtubule interacting and trafficking domain of spartin. Over-expression of mutant forms of strumpellin with the introduced HSP-causing mutations does not alter the colocalization of these two proteins. Knockdown of strumpellin in cultured cortical rat neurons interferes with development of neuronal branching and results in reduced expression of endogenous spartin. Proteosomal inhibition stabilized the levels of spartin and WASH1 proteins, supporting increased spartin degradation in the absence of strumpellin. PMID:25987849

  20. Modeling of axonal endoplasmic reticulum network by spastic paraplegia proteins

    PubMed Central

    Yalçın, Belgin; Zhao, Lu; Stofanko, Martin; O'Sullivan, Niamh C; Kang, Zi Han; Roost, Annika; Thomas, Matthew R; Zaessinger, Sophie; Blard, Olivier; Patto, Alex L; Sohail, Anood; Baena, Valentina; Terasaki, Mark; O'Kane, Cahir J

    2017-01-01

    Axons contain a smooth tubular endoplasmic reticulum (ER) network that is thought to be continuous with ER throughout the neuron; the mechanisms that form this axonal network are unknown. Mutations affecting reticulon or REEP proteins, with intramembrane hairpin domains that model ER membranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP). We show that Drosophila axons have a dynamic axonal ER network, which these proteins help to model. Loss of HSP hairpin proteins causes ER sheet expansion, partial loss of ER from distal motor axons, and occasional discontinuities in axonal ER. Ultrastructural analysis reveals an extensive ER network in axons, which shows larger and fewer tubules in larvae that lack reticulon and REEP proteins, consistent with loss of membrane curvature. Therefore HSP hairpin-containing proteins are required for shaping and continuity of axonal ER, thus suggesting roles for ER modeling in axon maintenance and function. DOI: http://dx.doi.org/10.7554/eLife.23882.001 PMID:28742022

  1. Multisite comparison of wheelchair propulsion kinetics in persons with paraplegia.

    PubMed

    Koontz, Alicia M; Yang, Yusheng; Price, Robert; Tolerico, Michelle L; DiGiovine, Carmen P; Sisto, Sue Ann; Cooper, Rory A; Boninger, Michael L

    2007-01-01

    A multisite collaborative study is being conducted on the association between propulsion biomechanics and upper-limb injuries. This substudy compared subject characteristics and pushrim kinetics across three sites and identified early on in the main study any differences that could affect interpretation of the findings or data pooling. A total of 42 manual wheelchair users with paraplegia (14 from each site) performed 0.9 m/s and 1.8 m/s steady state propulsion trials and an acceleration-brake-coastdown trial on a wheelchair dynamometer while propulsion forces and moment about the hub were measured with a SmartWheel. Significant differences between two sites were found in peak and average resultant force (p < 0.05), peak and average moment at the slower steady state speed (p < 0.005), and peak and average torque at the faster steady state speed (p = 0.06). Subjects at the site with significantly lower forces and torques had a slower deceleration rate during coastdown compared with the subjects at the other two sites (p < 0.001). These results imply that rolling resistance is lower at one of the sites and likely due to differences in dynamometer properties. A mechanical method was used to site-normalize the data and enable data pooling for future analyses.

  2. [Thoraco-abdominal aortic replacement in chronic phase in a patient with temporary paraplegia after Stanford B acute dissection].

    PubMed

    Takahashi, Goro; Hata, Masaki; Tabayashi, Koichi

    2013-07-01

    A 42-year-old man underwent was performed with thoraco-abdominal aneurysm replacement accompaniedy with reconstruction of abdominal branches and intercostal arteries. Eighteen months before, he had suffered from Stanford already been cured with paraplegia on being type B acute aortic dissection combined with paraplegia. When paraplegia had been occurred, cerebrospinal fluid drainage was had been performed promptly, and 4 days later, neurologic deficit was disappeared in 1 day. During the thoraco-abdominal aortic operation, cerebrospinal fluid drainage was performed done again. After the operation, paraplegia did was not occurred and he did not feel somewhat wrong with his legs. He was discharged from hospital on foot by himself. This case showed the efficacy of cerebral spinal fluid drainage for not only both with the prevention but also and treatment of paraplegia.

  3. Coagulopathy associated with sac reperfusion for reversing paraplegia after endovascular repair of type II thoracoabdominal aneurysm.

    PubMed

    Lioupis, Christos; Katsanos, Konstantinos; Clough, Rachel; Matharu, Nick; Modarai, Bijan; Carrell, Tom; Taylor, Peter

    2013-11-01

    Sac perfusion may be helpful in preventing or reversing spinal cord injury after endovascular repair of thoracoabdominal aneurysms and it has been used as an adjunct to the standard physiologic measures of sustained hypertension and cerebrospinal fluid drainage. Coagulopathy as a result of endoleak after endovascular aneurysm repair has been reported, and very rare cases of treatment after repair of these endoleaks have been described. We report a 73-year-old man who had endovascular repair of a type II thoracoabdominal aneurysm with a branched stent graft. Sac reperfusion was initiated to manage postoperative paraplegia. The paraplegia partially resolved but severe hemorrhagic complications developed that were attributed to sac perfusion-related hyperfibrinolysis. Discontinuation of sac perfusion resolved the coagulopathy but resulted in paraplegia. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

    PubMed

    Bayrakli, Fatih; Poyrazoglu, Hatice Gamze; Yuksel, Sirin; Yakicier, Cengiz; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuceturk, Betul; Ozer, Bugra; Doganay, Selim; Tanrikulu, Bahattin; Seker, Askin; Akbulut, Fatih; Ozen, Ali; Per, Huseyin; Kumandas, Sefer; Altuner Torun, Yasemin; Bayri, Yasar; Sakar, Mustafa; Dagcinar, Adnan; Ziyal, Ibrahim

    2015-12-01

    We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.

  5. Novel medical bathing with traditional Chinese herb formula alleviates paraplegia spasticity.

    PubMed

    Liu, Xin; Meng, Qingxi; Yu, Dapeng; Zhao, Xiwu; Zhao, Tingbao

    2014-06-01

    Paraplegia spasm is a kind of chronic disease which lacks effective treatment; the patients have to endure long-term pain, which is a tough problem for nursing practice. Lots of potential candidate medicines are under investigation, and a new Chinese herb formula is introduced in the current study. In the present study, we chose six different well-known Chinese herbs to form a formula, and boiled them into the water with an optimized ratio to make bath water; 80 paraplegic patients received this medicinal bath, and 80 patients received perfume water bath as placebo group. Compared with placebo control patients, the herb-treated patients have significant reduction in paraplegia spasm, visual analogue scale score, clinician global impression and sleep disorder. This novel six-combined formula traditional medicine could be beneficial for alleviating paraplegia spasm, but the underlying action mechanism deserves further study. © 2014 Wiley Publishing Asia Pty Ltd.

  6. Endemic Burkitt Lymphoma: Long-term Outcome in 87 Patients Who Presented With Paraplegia in Cameroon.

    PubMed

    Hesseling, P B; Mbah, G; Kouya, F; Kimbi, C; Nfor, P; Kaah, J; Kuruvilla, R; Best, A; Wharin, P

    2015-01-01

    The reported long-term outcome of endemic Burkitt lymphoma (eBL) patients who present with paraplegia is largely unknown. Records of BL patients treated with comparable short-interval cyclophosphamide chemotherapy schedules between 2004 and 2014 at three Baptist mission hospitals in Cameroon were reviewed. Survivors were followed up and examined at home or in hospital. Eighty-seven of 948 (9.2%) patients had paraplegia at diagnosis. The survival rate in eBL patients with paraplegia at diagnosis was 33% (n = 29) after follow-up of between 2 and 96 (median 40) months. Seven patients (24%) had neurological sequelae and needed rehabilitation. There was no relationship between the duration of symptoms (<2, 2-4, >4 weeks) and the survival rate or the risk to have neurological sequelae. The survival rate and risk for sequelae were similar in patients with confirmed St. Jude stage III and IV diseases.

  7. Detection of hypermethylated spastic paraplegia-20 in stool samples of patients with colorectal cancer.

    PubMed

    Zhang, Hao; Song, Yong-Chun; Dang, Cheng-Xue

    2013-01-01

    Analysis of aberrant hypermethylation in stool DNA might provide a novel strategy for noninvasive detection of colorectal cancer. To explore the feasibility of detecting hypermethylation in Spastic paraplegia-20 promoter as a stool-based DNA marker for detection of colorectal cancer. We collected 96 tissue and stool samples from patients with colorectal cancer and 30 stool samples healthy individuals. Hypermethylated Spastic paraplegia-20 occurs in 85.4% (82/96) of patients with colorectal cancer in the tissue samples. In the stool samples, the results indicate 80.2% (77/96) sensitivity and 100% (30/30) specificity of the test for detecting colorectal cancer by using the stool samples as a noninvasive method. The study reveals that hypermethylation in Spastic paraplegia-20 promoter is a highly specific and sensitive biomarker for screening colorectal cancer in stool samples as a noninvasive method.

  8. Acute Paraplegia After Lumbar Steroid Injection in Patients With Spinal Dural Arteriovenous Fistulas: Case Reports

    PubMed Central

    2016-01-01

    Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. However, SDAVFs are still underdiagnosed entities because their clinical symptoms are usually non-specific, as they include low back pain or radiating pain to the limb. There have been several reports of acute paraplegia after lumbar epidural steroid injections in patients with SDAVFs. We present 4 patients with SDAVFs who received lumbar steroid injection. Among the 4 cases, acute paraplegia developed in 2 cases that received a larger volume of injectate than the other cases. Thus, we are suggesting that the volume of injectate may be a contributing factor for acute paraplegia after lumbar steroid injection in patients with SDAVFs. PMID:27847727

  9. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

    PubMed Central

    Meilleur, K.G.; Traoré, M.; Sangaré, M.; Britton, A.; Landouré, G.; Coulibaly, S.; Niaré, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

    2010-01-01

    We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. PMID:20039086

  10. Sudden onset of paraplegia secondary to an unusual presentation of pediatric synovial sarcoma.

    PubMed

    Guo, Ailing; Guo, Fuyou

    2016-12-01

    Spinal synovial sarcoma (SS) is an extremely rare malignant tumor in children. We report an unusual pediatric synovial sarcoma located in the thoracic spine at T9-T10 levels. A 10-year-old boy was admitted with a 1-month history of progressive back pain and low fever for 7 days as well as sudden onset of paraplegia for 1 day. The primary diagnosis was considered for spinal inflammatory abscess; subsequently, the patient underwent total resection with a good recovery and confirmed SS by SYT-SSX gene translocation. The possibility of sudden paraplegia caused by unusual SS involved in the spine should be highlighted.

  11. Paraplegia after contrast media application: a transient or devastating rare complication? Case report.

    PubMed

    Mielke, Dorothee; Kallenberg, Kai; Hartmann, Marius; Rohde, Veit

    2016-05-01

    The authors report the case of a 76-year-old man with a spinal dural arteriovenous fistula. The patient suffered from sudden repeated reversible paraplegia after spinal digital subtraction angiography as well as CT angiography. Neurotoxicity of contrast media (CM) is the most probable cause for this repeated short-lasting paraplegia. Intolerance to toxicity of CM to the vulnerable spinal cord is rare, and probably depends on the individual patient. This phenomenon is transient and can occur after both intraarterial and intravenous CM application.

  12. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

    PubMed

    Bauer, Peter; Leshinsky-Silver, Esther; Blumkin, Lubov; Schlipf, Nina; Schröder, Christopher; Schicks, Julia; Lev, Dorit; Riess, Olaf; Lerman-Sagie, Tally; Schöls, Ludger

    2012-02-01

    We recently identified a new locus for spastic paraplegia type 47 (SPG47) in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis,intellectual disability, seizures, periventricular white matter changes and thin corpus callosum. Using exome sequencing, we now identified a novel AP4B1 frameshift mutation (c.664delC) in this family. This mutation was homozygous in both affected siblings and heterozygous in both parents. The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability.

  13. Occurrence of familial spastic paraplegia in only one of monozygous twins.

    PubMed Central

    Bone, I; Johnson, R H; Ferguson-Smith, M A

    1976-01-01

    Three patients who suffer from spastic paraplegia are described who belong to two generations in one family. One of the patients, who has had symptoms and signs for at least 10 years, has a monozygous twin who is unaffected. Using blood groups and chromosomal polymorphisms, the probability of monozygosity is estimated to be 0.99986. The observation of nonpenetrance in familial spastic paraplegia suggests that environmental factors may be involved in provocation and emphasises the need for careful genetic counselling in this and related diseases. PMID:1034672

  14. A pregnant woman with metastatic papillary thyroid carcinoma and paraplegia: Multiple considerations involved in the management.

    PubMed

    Basu, Sandip; Kand, Purushottam

    2011-01-01

    undertaken 48h after the administration of (131)I scan dose. Both the diagnostic and post (131)I treatment scan demonstrated multiple foci of (131)I uptake in the skeleton, lungs and liver. Following discharge from the isolation ward, adequate separation from the infant was ensured and the childcare was undertaken by relatives. The patient had a remarkable improvement clinically. During the next 3-½ years she was treated 2 more times with (131)I with cumulative doses of about 25.9GBq. The last post-treatment scan is depicted in. She has been presently ambulatory with complete resolution of paraplegia and a significantly better quality of life without any requirement of support, despite the presence of extensive skeletal disease. A recent review entitled "Approach to the pregnant patient with thyroid cancer", addresses this topic as a separate category. Similar emphasis has also been given by other authors while dealing with these patients. In our experience, patients with PTC metastatic lesions in the vertebrae show better response compared to those with large flat bone metastases likely related to the small size of the former. In conclusion, a teamwork of surgeons, obstetricians, nuclear medicine physicians as well as the strong support by the relatives, was necessary to favorably treat this patient with metastatic PTC, paraplegia and pregnancy.

  15. Rationales for Teaching World Musics.

    ERIC Educational Resources Information Center

    Fung, C. Victor

    1995-01-01

    Asserts that since the middle of the 20th century the inclusion of world musics in music education programs has become increasingly important. Presents three rationales for teaching world music in the United States. Discusses two assumptions and implications for music educators regarding world music. (CFR)

  16. Wearable Power-Assist Locomotor (WPAL) for supporting upright walking in persons with paraplegia.

    PubMed

    Tanabe, Shigeo; Hirano, Satoshi; Saitoh, Eiichi

    2013-01-01

    Due to physical and psychosocial issues associated with long-term sitting in a wheelchair, devising new ways to facilitate upright mobility is a key issue in rehabilitation medicine. Wearable Power-Assist Locomotor (WPAL) is a motorized orthosis and is developed for providing independent and comfortable walking for paraplegic patients. The WPAL consists of a wearable robotic orthosis and custom walker. To facilitate alternate usage with a wheelchair, the wearable robotic orthosis is based on a medial system with motors located at the bilateral hip, knee and ankle joints to reduce the increase in heart rate during gait. The gait parameters include stride length, toe clearance height, swing time, double support time, etc. (gait speed: up to 1.3 km/h). Independent gait with the walker can be learned through a five-stage gait exercise sequence. The first two stages are stepping and gait exercises with parallel bars. The third stage is gait exercise on treadmill. The subsequent two stages are gait exercise with walker. Seven motor-complete paraplegic patients (spinal cord functional levels: T6-T12) participated. Through a series of exercises, all users achieved independent gait on a level floor (Functional Ambulation Categories: 4). The mean duration and distance of consecutively walking were 14.1 ± 11.4 minutes and 165.6 ± 202.6 m, respectively. The most competent user was able to walk continuously for as long as 40 minutes and 640 m whereas only for 6 minutes and 107 m with a conventional orthosis. These results suggest that WPAL might be useful device for supporting upright walking in persons with paraplegia.

  17. 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

  18. Posterior-only vertebral column resection for revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia: A case report and literature review.

    PubMed

    Tao, Youping; Wu, Jigong; Ma, Huasong

    2017-01-01

    Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure. The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia. He underwent posterior total laminectomy through the thoracic spine for intramedullary spinal cord tumors at the age of 3 years in another hospital. He then developed kyphosis deformity 1 year after laminectomy, and underwent posterior spinal fusion without instrumentation at 9 years of age. However, the deformity gradually progressed over the years. Seven months before admission to our hospital, he developed a significant progression of neurological deficits, including weakness of strength and sensation in lower extremities bilaterally, with no bladder or bowel dysfunction. There was no improvement of spinal cord function with conservative measures, and he required a wheelchair for movement. The patient underwent posterior-only VCR by single stage with the purposes of spinal cord decompression and spinal deformity correction. Postoperatively, he was transferred to the intensive care unit (ICU) and required positive pressure ventilation support to improve his respiratory condition. The child experienced cerebrospinal fluid leak (CSF) which resulted in an unplanned return to the operating room. The neurological function improved from preoperative Frankel C to Frankel D within 12 months of surgery, and recovered completely to Frankel E by 18 months. At the 24 month follow-up, the good neurological function was maintained; pulmonary function tests (PFTs) revealed improved forced vital capacity (FVC) and forced expiratory volume for 1 second (FEV1). The patient's coronal major curve and sagittal kyphosis were corrected from 70° to 21

  19. A Rationale for College Student Services Program

    ERIC Educational Resources Information Center

    Teeter, Ruskin

    1974-01-01

    Article points to need for new rationale for student personnel administration. Such a rationale could assist administrators in answering such questions as derive from the abandonment of the doctrine of in loco parentis. (Author/EK)

  20. REEP1 Mutation Spectrum and Genotype/Phenotype Correlation in Hereditary Spastic Paraplegia Type 31

    ERIC Educational Resources Information Center

    Beetz, Christian; Schule, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, Berry P. H.; Frints, Suzanna G. M.; van Zelst-Stams, Wendy A. G.; Byrne, Paula; Otto, Susanne; Nygren, Anders O. H.; Baets, Jonathan; Smets, Katrien; Ceulemans, Berten; Dan, Bernard; Nagan, Narasimhan; Kassubek, Jan; Klimpe, Sven; Klopstock, Thomas; Stolze, Henning; Smeets, Hubert J. M.; Schrander-Stumpel, Constance T. R. M.; Hutchinson, Michael; van de Warrenburg, Bart P.; Braastad, Corey; Deufel, Thomas; Pericak-Vance, Margaret; Schols, Ludger; de Jonghe, Peter; Zuchner, Stephan

    2008-01-01

    Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for "REEP1" mutations and copy number variations. We identified 13 novel and 2 known "REEP1"…

  1. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

    PubMed Central

    Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frédéric; Loureiro, José L.; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny

    2015-01-01

    Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), an enzyme that catalyses the first and common step of proline and ornithine biosynthesis from glutamate. Through exome sequencing and candidate gene screening, we report two families with autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment, without any cutaneous abnormality. More interestingly, we also identified monoallelic ALDH18A1 mutations segregating in three independent families with autosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadic patients. Low levels of plasma ornithine, citrulline, arginine and proline in four individuals from two families suggested P5CS deficiency. Glutamine loading tests in two fibroblast cultures from two related affected subjects confirmed a metabolic block at the level of P5CS in vivo. Besides expanding the clinical spectrum of ALDH18A1-related pathology, we describe mutations segregating in an autosomal dominant pattern. The latter are associated with a potential trait biomarker; we therefore suggest including amino acid chromatography in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as the associated phenotype is not distinct from other causative genes. PMID:26026163

  2. REEP1 Mutation Spectrum and Genotype/Phenotype Correlation in Hereditary Spastic Paraplegia Type 31

    ERIC Educational Resources Information Center

    Beetz, Christian; Schule, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, Berry P. H.; Frints, Suzanna G. M.; van Zelst-Stams, Wendy A. G.; Byrne, Paula; Otto, Susanne; Nygren, Anders O. H.; Baets, Jonathan; Smets, Katrien; Ceulemans, Berten; Dan, Bernard; Nagan, Narasimhan; Kassubek, Jan; Klimpe, Sven; Klopstock, Thomas; Stolze, Henning; Smeets, Hubert J. M.; Schrander-Stumpel, Constance T. R. M.; Hutchinson, Michael; van de Warrenburg, Bart P.; Braastad, Corey; Deufel, Thomas; Pericak-Vance, Margaret; Schols, Ludger; de Jonghe, Peter; Zuchner, Stephan

    2008-01-01

    Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for "REEP1" mutations and copy number variations. We identified 13 novel and 2 known "REEP1"…

  3. Prevalence of Oxidative Stress and Metabolic Syndrome in Adults with Paraplegia and Tetraplegia

    USDA-ARS?s Scientific Manuscript database

    Objectives: To investigate the extent of oxidative stress and metabolic syndrome (MetS) in people with spinal cord injuries (SCI) and to identify the major factors associated with oxidative stress and MetS in this population. Methods: 24 subjects with paraplegia (PARA), 26 subjects with tetraplegia ...

  4. Work values: a comparison of non-disabled persons with persons with paraplegia.

    PubMed

    Ville, I; Ravaud, J F

    1998-04-01

    A number of studies focus on factors that might explain the low level of employment of persons with paraplegia without questioning the social representations connected to work. Being employed is considered a priori as beneficial, constituting an important objective for rehabilitation. However sociologists have recently pointed out that work, as a means of self fulfilment, is a 'constructed' rather than a 'natural' category. The comparisons of the representations of work given by two groups: persons with paraplegia (n = 350), and non-disabled persons (n = 327) show that persons with paraplegia are more likely than non-disabled persons to consider work as a source of personal fulfilment and social recognition and less likely to positively value the fact of not-working. In addition, a demonstrated satisfaction with not working, among persons of working age, is clearly more significant among non-disabled persons than among persons with paraplegia. Among these, some of them who have generally made up their mind about not working declare that they feel satisfied being unoccupied. This satisfaction is explained, in part, by expressed representations of work. The authors suggest a reflection on the place of work in rehabilitation programmes.

  5. Paraplegia in a chiropractic patient secondary to atraumatic dural arteriovenous fistula with perimedullary hypertension: case report

    PubMed Central

    2013-01-01

    Intracranial dural arteriovenous fistulas are abnormal communications between higher-pressure arterial circulation and lower-pressure venous circulation. This abnormal communication can result in important and frequently misdiagnosed neurological abnormalities. A case of rapid onset paraplegia following cervical chiropractic manipulation is reviewed. The patient’s generalized spinal cord edema, lower extremity paraplegia and upper extremity weakness, were initially believed to be a complication of the cervical spinal manipulation that had occurred earlier on the day of admission. Subsequent diagnostic testing determined the patient suffered from impaired circulation of the cervical spinal cord produced by a Type V intracranial arteriovenous fistula and resultant venous hypertension in the pontomesencephalic and anterior spinal veins. The clinical and imaging findings of an intracranial dural arteriovenous fistula with pontomesencephalic venous congestion and paraplegia are reviewed. This case report emphasizes the importance of thorough and serial diagnostic imaging in the presence of sudden onset paraplegia and the potential for error when concluding atypical neurological presentations are the result of therapeutic misadventure. PMID:23830411

  6. Paraplegia in a chiropractic patient secondary to atraumatic dural arteriovenous fistula with perimedullary hypertension: case report.

    PubMed

    Foreman, Stephen M; Stahl, Michael J; Schultz, Gary D

    2013-07-08

    Intracranial dural arteriovenous fistulas are abnormal communications between higher-pressure arterial circulation and lower-pressure venous circulation. This abnormal communication can result in important and frequently misdiagnosed neurological abnormalities.A case of rapid onset paraplegia following cervical chiropractic manipulation is reviewed. The patient's generalized spinal cord edema, lower extremity paraplegia and upper extremity weakness, were initially believed to be a complication of the cervical spinal manipulation that had occurred earlier on the day of admission. Subsequent diagnostic testing determined the patient suffered from impaired circulation of the cervical spinal cord produced by a Type V intracranial arteriovenous fistula and resultant venous hypertension in the pontomesencephalic and anterior spinal veins.The clinical and imaging findings of an intracranial dural arteriovenous fistula with pontomesencephalic venous congestion and paraplegia are reviewed.This case report emphasizes the importance of thorough and serial diagnostic imaging in the presence of sudden onset paraplegia and the potential for error when concluding atypical neurological presentations are the result of therapeutic misadventure.

  7. Increased cardiovascular disease risk in Swedish persons with paraplegia: The Stockholm spinal cord injury study.

    PubMed

    Wahman, Kerstin; Nash, Mark S; Lewis, John E; Seiger, Ake; Levi, Richard

    2010-05-01

    Comparison of prevalence of cardiovascular disease risks in persons with chronic traumatic paraplegia with those in the general population. Cross-sectional comparative study. A total of 135 individuals, age range 18-79 years, with chronic (> or = 1 year) traumatic paraplegia. The prevalences of diabetes mellitus, dyslipidaemia, hypertension, overweight, and smoking, were assessed in the study population and were compared with an age- and gender-matched sample of the general population in the region under study. History of myocardial infarction and medication for dyslipidaemia, hypertension, and diabetes mellitus were also recorded. chi2 tests were used to compare the paraplegic cohort with the general population sample. Significantly more persons with paraplegia reported a history of myocardial infarction (5.9%) than those in the comparison group (0.7%). The prevalences of diabetes mellitus (5.9%), dyslipidaemia (11.1%), and hypertension (14.1%) were also significantly higher in the paraplegic group, as were drug treatment for these disorders. Persons with paraplegia report increased prevalences of diabetes mellitus, hypertension, and dyslipidaemia, in particular, compared with the general population. Population-based screening and therapeutic counter-measures for these conditions may therefore be particularly indicated for this patient group.

  8. Rationales for Commonly "Challenged" Taught Books.

    ERIC Educational Resources Information Center

    Shugert, Diane P., Ed.; And Others

    1983-01-01

    Intended for teachers, this focused journal issue contains separate rationales for teaching books that have been challenged as appropriate instructional materials. Following a discussion of the purpose for rationales and suggestions for using them, the journal presents rationales for teaching the following books: "To Kill a Mockingbird,""The Diary…

  9. Rationales for Commonly "Challenged" Taught Books.

    ERIC Educational Resources Information Center

    Shugert, Diane P., Ed.; And Others

    1983-01-01

    Intended for teachers, this focused journal issue contains separate rationales for teaching books that have been challenged as appropriate instructional materials. Following a discussion of the purpose for rationales and suggestions for using them, the journal presents rationales for teaching the following books: "To Kill a Mockingbird,""The Diary…

  10. Profile and outcome of non-traumatic paraplegia in Kano, northwestern Nigeria.

    PubMed

    Owolabi, L F; Ibrahim, A; Samaila, A A

    2011-01-01

    This study was aimed to identify the clinical and radiological profile of non-traumatic paraplegia and the various etiologies associated with the condition. A review of the clinical and radiological presentations of adult patients presenting with non-traumatic paraplegia managed at the Aminu Kano Teaching Hospital (AKTH) and Murtala Specialist Hospital (MMSH), Kano, from June 2006 to November 2009 was carried out. Patients underwent a detailed clinical evaluation followed by laboratory investigation and neuroimaging studies and were followed up for 9 months to asses outcome and complications. 98 patients with non-traumatic paraplegia consisting of 71 males and 27 females (M:F: 5:2) were seen. The age range of the patients was between 16 and 76 years, with a mean age of 40 years (SD = 15.3) years; 54 (55%) of the patients presented after 2 months of the onset of paraplegia. The commonest symptoms were weakness of the lower limbs (100%), loss of sensation (55%), sphincteric disturbance (50%) radicular pain and paresthesia (38.4%), back pain (21.4%) and erectile dysfunction (40%). All the patients had X-ray of the spine; 26.3% had Magnetic Resonance Imaging (MRI) spine. The commonest etiological factors were tuberculosis (TB) (44.4%), transverse myelitis (13.1%), Guillain-Barre syndrome (9.1%), metastatic spinal disease (4%), and HIV myelopathy (4%). However, the cause could not be identified in 14 (14%) of the patients. The commonest site of affectation in those with TB spine was lower thoracic (53.8%) and upper lumbar (23.1%) vertebrae. Clinical profile of non-traumatic paraplegia in Kano, northwestern Nigeria, is similar to that reported elsewhere in Africa, with spinal tuberculosis and transverse myelitis accounting for over half the cases.

  11. Health-related quality of life of primary caregivers of persons with paraplegia.

    PubMed

    Blanes, L; Carmagnani, M I S; Ferreira, L M

    2007-06-01

    A cross-sectional descriptive study was performed with structured questionnaires and interviews conducted with 60 primary caregivers of persons with paraplegia (T1 to S2) owing to traumatic spinal cord injury (SCI). The purpose of this study was the assessment of the health-related quality of life (HRQoL) of primary caregivers of persons with paraplegia owing to traumatic SCI. São Paulo, SP, Brazil. The HRQoL was assessed by the Short Form-36 (SF-36) health survey questionnaire and caregiver burden was evaluated by the Caregiver Burden Scale (CBS). Among 60 caregivers evaluated, 49 (81.7%) were female, with mean age of 35.8 (SD=12.91) years, 16 (26.6%) being wives and 14 (23.4%) sisters of persons with paraplegia. It was found that the caregivers spend an average of 11.3 h/day caring for individuals with paraplegia. Twenty-three caregivers (38.3%) had a chronic disease and 32 (53.3%) were sole caregivers taking upon themselves the full responsibility of caring for the persons with paraplegia. The subjects reported lower scores on bodily pain and vitality than the other dimensions of the SF-36. The mean global CBS score was 1.71 (SD=0.50) and mean scores for each dimension ranged from 1.39 (SD=0.64) for emotional involvement to 2.44 (SD=0.79) for environment dimension. The primary caregivers of spinal cord-injured persons reported low scores on all of the SF-36 and CBS dimensions, bodily pain and vitality being the SF-36 dimensions that received the lowest scores.

  12. 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".

  13. Blood irradiation: Rationale and technique

    SciTech Connect

    Lewis, M.C. )

    1990-01-01

    Upon request by the local American Red Cross, the Savannah Regional Center for Cancer Care irradiates whole blood or blood components to prevent post-transfusion graft-versus-host reaction in patients who have severely depressed immune systems. The rationale for blood irradiation, the total absorbed dose, the type of patients who require irradiated blood, and the regulations that apply to irradiated blood are presented. A method of irradiating blood using a linear accelerator is described.

  14. A confounding coincidence: epidural anesthesia and paraplegia due to intramedullary tuberculoma in a patient who underwent cholecystectomy.

    PubMed

    Wu, Changyi; Zhang, Ying; Xu, Jianmin

    2014-01-01

    Paraplegia associated with epidural anesthesia or caused by intramedullary spinal tuberculoma is rare but catastrophic. We present a case of paraplegia following epidural anesthesia in a patient with an undiagnosed intramedullary spinal tuberculoma. A 42-year-old man developed paraplegia after an open cholecystectomy under epidural anesthesia. Spinal cord infarction, acute transverse myelitis, and intramedullary neoplasms were ruled out by histopathologic examination, and intramedullary spinal tuberculoma at the T6-T7 level was identified. Despite surgical treatment and subsequent antituberculous therapy, the patient retained some disability attributable to the delay in diagnosis. Physicians should be aware of coexisting disease as a cause of paraplegia following procedures using epidural anesthesia. Magnetic resonance imaging is the most sensitive diagnostic test, although it is still difficult to differentiate spinal cord infarction, myelitis, intramedullary spinal tuberculoma, and neoplasms from imaging features alone.

  15. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

    PubMed Central

    Zatz, M; Penha-Serrano, C; Otto, P A

    1976-01-01

    A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance on the X chromosome. PMID:1084423

  16. Assessment of intraoperative motor evoked potentials for predicting postoperative paraplegia in thoracic and thoracoabdominal aortic aneurysm repair.

    PubMed

    Horiuchi, Toshinori; Kawaguchi, Masahiko; Inoue, Satoki; Hayashi, Hironobu; Abe, Ryuichi; Tabayashi, Nobuoki; Taniguchi, Shigeki; Furuya, Hitoshi

    2011-02-01

    Monitoring motor evoked potentials (MEPs) has been recognized as a highly reliable method to detect intraoperative spinal cord ischemia (SCI) in aortic repair. However, the data regarding the sensitivity and specificity of MEPs for predicting postoperative paraplegia are limited. We retrospectively assessed the value of intraoperative MEP amplitudes for predicting postoperative paraplegia. The medical records of 44 patients were reviewed. A train-of-five stimulation was delivered to C3-C4, and MEPs were recorded from the abductor pollicis brevis and the tibialis anterior muscles. The cutoff point for detecting SCI was set at 75% decrease of the baseline MEP. Receiver operating characteristic curves were applied at various cutoff points. Three patients (6.8%) had postoperative paraplegia. The minimum MEP during surgery had 100% sensitivity and 64.9% specificity in predicting paraplegia, and the MEP at the end of surgery had 66.7% sensitivity and 78.0% specificity in predicting paraplegia: only 1 patient, who had borderline paraplegia (right monoparesis), showed a false-negative result. Receiver operating characteristic curves indicated that adequate cutoff points for the minimum MEP during surgery and for the MEP amplitude at the end of surgery were a 75-90% decrease and a 64-75% decrease of the baseline MEP, respectively. Monitoring MEPs had relatively high sensitivity and acceptable specificity, with the cutoff point set at 75% decrease of the baseline MEP, for predicting paraplegia and paraparesis. Because of the small sample in our study, further investigations would be necessary to investigate an adequate cutoff point that could predict postoperative paraplegia.

  17. SDI: its nature and rationale

    SciTech Connect

    Nitze, P.H.

    1985-01-01

    Because of fixed preconceptions or erroneous assumptions, this is an attempt by Mr. Nitze, mostly, to clarify the background and rationale for SDI. After discussing briefly the three factors that led to the President's decision in early 1983 to launch SDI, he emphasizes that SDI is a research program that is investigating the feasibility of new defense technologies, both earth- and space-based. Further, he emphasizes what SDI is not: (1) a deployment program, but research only; (2) an attempt of the US to obtain superiority; and (3) designed to produce a regime that would replace deterrence, but rather to shift its means.

  18. Clinical Evaluation of Percutaneous Vertebroplasty in a Patient with Paraplegia and Immobilization Syndrome: A Case Report

    PubMed Central

    Masala, Salvatore; Calabria, Eros; De Vivo, Dominique; Neroni, Luca; Simonetti, Giovanni

    2013-01-01

    We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of a patient with immobilization syndrome due to paraplegia and vertebral osteoporotic fractures. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization in patient with immobilization syndrome has not been reported in the literature. A 73-year-old woman affected by immobilization syndrome due to paraplegia and vertebral osteoporotic fractures was treated with PVP of vertebrae D12, L1, and L4. After PVP, the patient did not need any antalgic therapy, and there was a significant improvement regarding mobilization, performance of physiological functions, daily management of personal care, and treatment of decubitus ulcers, increasing life quality and psychological well-being. PMID:23573449

  19. Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

    SciTech Connect

    Speer, M.C.; Gaskell, P.C.; Robinson, L.C.

    1995-08-14

    Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its {open_quotes}pure{close_quotes} form generally of autosomal dominant inheritance pattern. Hazen et al. reported tight linkage of a large FSP family to the highly polymorphic microsatellite marker D14S269 with z ({sub {theta}}) = 8.49 at {sub {theta}} = 0.00. They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification. 28 refs., 2 figs., 4 tabs.

  20. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.

    PubMed

    Maier, André; Klopocki, Eva; Horn, Denise; Tzschach, Andreas; Holm, Teresa; Meyer, Robert; Meyer, Thomas

    2014-02-01

    Complex forms of spastic paraplegia (SPG) are rare and genetically heterogeneous. In apparently sporadic cases, analysis of known SPG genes often fails to reveal a mutation. We report a 24-year-old patient with a syndrome of spastic paraplegia, ataxia, frontotemporal dementia, and lower motor neuron involvement. Screening of the patient's genome for copy number variation identified a novel 276 kb deletion spanning the first exon of the GRID2 gene. MRI scan showed atrophy of the cerebellum, and electromyography revealed a chronic disorder of motor neurons or their axons. A deletion in GRID2, coding for the glutamate receptor delta-2 subunit precursor protein, was excluded in either parent, suggesting that the deletion in the index patient occurred de novo. We hypothesize that the deletion identified here is the cause of our patient's clinical presentation, due to the resemblance to the GRID2 mutation phenotype in mouse models. Copyright © 2013 Wiley Periodicals, Inc.

  1. A New Combined Technique Reducing the Risk of Paraplegia during Thoracoabdominal Aorta Replacement.

    PubMed

    Tozzi, Piergiorgio; Pralong, Etienne; Gronchi, Fabrizio; Siniscalchi, Giuseppe

    2017-03-01

    Acute spinal cord ischemia during thoracoabdominal aorta replacement is a dreadful complication. Existing tools (motor evoked potential [MEP] and somatosensory evoked potential [SSEP]) do not allow differentiating between central and peripheral paraplegia. Therefore, the surgeon often performs unnecessary reimplantation of intercostal arteries: this is time consuming, and significantly increases bleeding complications. We present a simple technique combining MEP and peripheral compound muscle action potential induced by posterior tibialis nerve stimulation, enabling the surgeon to quickly discriminate between central and peripheral neurologic injury. The surgeon has one more tool to drive in real time the optimal surgical strategy. This strategy guides the decision as to which side branches ought to be reimplanted, thus minimizing the risk of paraplegia. Georg Thieme Verlag KG Stuttgart · New York.

  2. [Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].

    PubMed

    Hattori, Ayako; Sasaki, Masayuki; Sakuma, Hiroshi; Saito, Yoshiaki; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji

    2010-11-01

    A 16-year-old male patient was admitted to our hospital with mental retardation and a gradually increasing gait disturbance. He fell easily at age 6, and lost the ability to jump at age 12. At age 13, he lost the ability to run, and developed pes cavus and hammer toes. Spastic paraplegia with mental retardation, congenital cataracts, hyper reflexia, dysarthria, callosal hypogenesis and peripheral neuropathy were evident at age 16. Laboratory examinations did not reveal any underlying disorders. He was diagnosed as having complex spastic paraplegia with cataracts, mental retardation and peripheral neuropathy that might comprise a genetically distinct entity that is unique to Japan, because all prior reports of this combination have been generated only from Japan.

  3. [Acute paraplegia and intramedullary cavitation in a patient with pulmonary tuberculosis].

    PubMed

    Schapira, M; Presas, J L; Speiser, E; Klimovsky, S; Barro, A; Nogués, M

    1992-01-01

    This 42-year-old male patient voluntarily discontinued treatment for lung TBC and twenty days later developed acute paraplegia. Magnetic resonance imaging (MRI) demonstrated a large intramedullary cavity extending from T2 to the conus medullaris. Having resumed anti-TBC treatment, the patient progressed favourably, despite any change in cavity size. Tuberculous meningitis may be complicated by the appearance of intramedullary cavities by two distinct mechanisms: 1) adhesive arachnoiditis at the skull base with obstruction of Luschka and Magendie foramina, followed by hydrocephalus and hydromyelia; and 2) spinal cord arachnoiditis with the development of arachnoidal and intramedullary cysts. In either case, symptoms are of late presentation. To the best of our knowledge, this is the first report in the literature of lung tuberculosis associated with syringomyelia but without basal arachnoiditis. Acute clinical presentation with paraplegia is exceptional.

  4. Antepartum surgical management of Pott's paraplegia along with maintenance of pregnancy during second trimester.

    PubMed

    Kaul, Rahul; Chhabra, H S; Kanagaraju, Vijayanth; Mahajan, Rajat; Tandon, Vikas; Nanda, Ankur; Sangondimath, Gururaj; Patel, Nishit

    2016-04-01

    The existing literature is limited and inconclusive regarding management of spinal tuberculosis with neurological deficit during advanced pregnancy. None of the previously published case series concerning this problem during the second trimester of pregnancy have explored the option of simultaneous surgical intervention for it along with maintenance of pregnancy. A 22-year-old woman with 26 weeks of pregnancy (2nd trimester) presented with upper back pain for the past 2 months, inability to move both lower limbs for the last 1 week, bladder and bowel dysfunction for the past 5 days (Frankel Grade B). Patient subsequently underwent MRI scan dorsal spine and the image findings were suggestive of spinal tuberculosis T2 level. After obstetric evaluation and opinion of the expectant mother, in view of extensive neurological deficit which progressed rapidly, decision was taken for surgical intervention along with maintenance of pregnancy. Patient was positioned in right lateral position after giving general anesthesia using double lumen endotracheal tube with lung isolation technique. Exposure was done using transthoracic third rib excision approach. Decompression was achieved by radical debridement at T2 vertebrae level followed by multiple rib strut grafts and stabilization with screw and rod construct between T1 and T3 vertebrae. Intra-operative measures including type of anesthesia, prevention of maternal hypotension, hypoxemia and hypothermia, and fetal monitoring by attending obstetrician were undertaken to maintain feto-maternal safety. Postoperative ultrasonography evaluation of the fetus revealed a normal study. Post-surgery histopathological evaluation of the surgical specimen confirmed tuberculosis infection and the patient continued anti-tubercular drug therapy for 9 months. She delivered a healthy girl child at 36 weeks of gestation by cesarean section. After about 14 months of postoperative follow-up, patient has completely recovered motor power with mild

  5. Cracked teeth--treatment rationale and case management: case reports.

    PubMed

    Liu, H H; Sidhu, S K

    1995-07-01

    The treatment rationale for, and successful management of, six teeth with cracks in the form of incomplete vertical fractures are reported. Further crack propagation was prevented by placement of either stainless steel orthodontic bands or aluminum or acrylic resin provisional crowns, and endodontic treatment was subsequently carried out. The teeth were restored with intraradicular amalgam cores and complete veneer crowns. The teeth were reexamined periodically for up to 3.5 years after treatment. During the period of review, all teeth remained asymptomatic.

  6. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

    PubMed

    Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frédéric; Loureiro, José L; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni

    2015-08-01

    Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), an enzyme that catalyses the first and common step of proline and ornithine biosynthesis from glutamate. Through exome sequencing and candidate gene screening, we report two families with autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment, without any cutaneous abnormality. More interestingly, we also identified monoallelic ALDH18A1 mutations segregating in three independent families with autosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadic patients. Low levels of plasma ornithine, citrulline, arginine and proline in four individuals from two families suggested P5CS deficiency. Glutamine loading tests in two fibroblast cultures from two related affected subjects confirmed a metabolic block at the level of P5CS in vivo. Besides expanding the clinical spectrum of ALDH18A1-related pathology, we describe mutations segregating in an autosomal dominant pattern. The latter are associated with a potential trait biomarker; we therefore suggest including amino acid chromatography in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as the associated phenotype is not distinct from other causative genes. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy.

    PubMed

    Uncini, A; Treviso, M; Basciani, M; Gambi, D

    1987-02-01

    Three patients with autosomal dominant Strümpell's familial spastic paraplegia (SFSP) were evaluated by means of somatosensory evoked potentials (SEPs) from upper and lower limb and determination of sural nerve conduction velocity. Findings of normal sural nerve conduction but reduced amplitude and poor definition of SEPs with normal latencies on peroneal nerve stimulation support a pattern of central nervous system degeneration characterized by a selective involvement of centrally directed axons within the gracile fasciculi.

  8. Heart rate and oxygen demand of powered exoskeleton-assisted walking in persons with paraplegia.

    PubMed

    Asselin, Pierre; Knezevic, Steven; Kornfeld, Stephen; Cirnigliaro, Christopher; Agranova-Breyter, Irina; Bauman, William A; Spungen, Ann M

    2015-01-01

    Historically, persons with paralysis have limited options for overground ambulation. Recently, powered exoskeletons have become available, which are systems that translate the user's body movements to activate motors to move the lower limbs through a predetermined gait pattern. As part of an ongoing clinical study (NCT01454570), eight nonambulatory persons with paraplegia were trained to ambulate with a powered exoskeleton. Measurements of oxygen uptake (VO2) and heart rate (HR) were recorded for 6 min each during each maneuver while sitting, standing, and walking. The average value of VO2 during walking (11.2 +/- 1.7 mL/kg/min) was significantly higher than those for sitting and standing (3.5 +/- 0.4 and 4.3 +/- 0.9 mL/kg/min, respectively; p < 0.001). The HR response during walking was significantly greater than that of either sitting or standing (118 +/- 21vs 70 +/- 10 and 81 +/- 12 beats per minute, respectively: p < 0.001). Persons with paraplegia were able to ambulate efficiently using the powered exoskeleton for overground ambulation, providing potential for functional gain and improved fitness. ClinicalTrials.gov; NCT01454570; "The ReWalk Exoskeletal Walking System for Persons with Paraplegia (VA_ReWalk)"; https://clinicaltrials.gov/ct2/show/NCT01454570.

  9. Postural control and fear of falling in persons with low-level paraplegia.

    PubMed

    John, Ligie T; Cherian, Binu; Babu, Andrew

    2010-01-01

    Falls are prevalent reasons for spinal cord injury (SCI). Postinjury fear of falling (FOF) can affect rehabilitation potential. We quantified FOF in 15 men with paraplegia (ambulatory with bilateral knee-ankle-foot orthoses [KAFOs] and elbow crutches) in correlation with their postural control at the center for long-term SCI rehabilitation of a tertiary-care teaching hospital. Our outcome measures comprised the American Spinal Injury Association Impairment Scale, the Modified Falls Efficacy Scale (MFES), postural sway measurements in the anteroposterior and mediolateral directions; and walking speed, cadence, and endurance. We assessed FOF with the MFES followed by measuring postural sway with a force platform. We measured gait parameters by asking the participant to ambulate on an indoor pathway. The mean postural sway was 314.13 +/- 184.05 mm (mean +/- standard deviation) in the anteroposterior direction and 222.16 +/- 112.34 mm in the mediolateral direction. The MFES score was 41.29 +/- 12.77, which showed a statistically significant negative correlation with postural control. The self-perception of confidence as measured by MFES might not really represent the actual postural stability in individuals with low-level paraplegia. FOF can adversely affect the postural control of individuals with low-level paraplegia. Clinicians should consider FOF as an influential factor in postural control during rehabilitation.

  10. An Approach for the Cooperative Control of FES With a Powered Exoskeleton During Level Walking for Persons With Paraplegia.

    PubMed

    Ha, Kevin H; Murray, Spencer A; Goldfarb, Michael

    2016-04-01

    This paper describes a hybrid system that combines a powered lower limb exoskeleton with functional electrical stimulation (FES) for gait restoration in persons with paraplegia. The general control structure consists of two control loops: a motor control loop, which utilizes joint angle feedback control to control the output of the joint motor to track the desired joint trajectories, and a muscle control loop, which utilizes joint torque profiles from previous steps to shape the muscle stimulation profile for the subsequent step in order to minimize the motor torque contribution required for joint angle trajectory tracking. The implementation described here incorporates stimulation of the hamstrings and quadriceps muscles, such that the hip joints are actuated by the combination of hip motors and the hamstrings, and the knee joints are actuated by the combination of knee motors and the quadriceps. In order to demonstrate efficacy, the control approach was implemented on three paraplegic subjects with motor complete spinal cord injuries ranging from levels T6 to T10. Experimental data indicates that the cooperative control system provided consistent and repeatable gait motions and reduced the torque and power output required from the hip and knee motors of the exoskeleton compared to walking without FES.

  11. Postural control during stance in paraplegia: effects of medially linked versus unlinked knee-ankle-foot orthoses.

    PubMed

    Middleton, J W; Sinclair, P J; Smith, R M; Davis, G M

    1999-12-01

    To investigate the effect of medially linking knee-ankle-foot orthoses (KAFOs) on postural stability and sway during (1) quiet standing and (2) functional activities for persons with spinal cord injury (SCI). A randomized, mixed design, with the factors being activity (quiet standing and two function-mimicking tasks), SCI (present or not), and type of orthosis used in SCI group (linked or unlinked KAFO). Nine men with T5 to T12 paraplegia, 8 of whom had complete lesions and 1 with some sacral sparing (American Spinal Injury Association grade B) without proprioception, matched to 9 able-bodied men. Mean amplitude of sway and sway path in anteroposterior and mediolateral directions, derived from center of pressure measurements on a force platform. All men with SCI were able to stand unsupported and perform function-mimicking activities in medially linked KAFOs; however, when wearing unlinked KAFOs only 5 could maintain balance during quiet stance and 3 could maintain balance during activity. Significant differences were found between linked and unlinked KAFOs; side-to-side mean amplitude of sway was less and sway path was greater for SCI subjects when they wore the linked KAFOs. Medial linkage of bilateral KAFOs provides an effective strategy to improve stability and increase postural control for persons with SCI, facilitating performance of functional activities during standing without upper limb support.

  12. Heavy reliance on carbohydrate across a wide range of exercise intensities during voluntary arm ergometry in persons with paraplegia.

    PubMed

    Jacobs, Kevin A; Burns, Patricia; Kressler, Jochen; Nash, Mark S

    2013-09-01

    To describe and compare substrate oxidation and partitioning during voluntary arm ergometry in individuals with paraplegia and non-disabled individuals over a wide range of exercise intensities. Cross-sectional study. Clinical research facility. Ten apparently healthy, sedentary men with paraplegia and seven healthy, non-disabled subjects. Rest and continuous progressive voluntary arm ergometry between 30 and 80% of peak aerobic capacity (VO2peak). Total energy expenditure and whole body rates of fat and carbohydrate oxidation. A maximal whole body fat oxidation (WBFO) rate of 0.13 ± 0.07 g/minute was reached at 41 ± 9% VO2peak for subjects with paraplegia, although carbohydrate became the predominant fuel source during exercise exceeding an intensity of 30-40% VO2peak. Both the maximal WBFO rate (0.06 ± 0.04 g/minute) and the intensity at which it occurred (13 ± 3% VO2peak) were significantly lower for the non-disabled subjects than those with paraplegia. Sedentary individuals with paraplegia are more capable of oxidizing fat during voluntary arm ergometry than non-disabled individuals perhaps due to local adaptations of upper body skeletal muscle used for daily locomotion. However, carbohydrate is the predominant fuel source oxidized across a wide range of intensities during voluntary arm ergometry in those with paraplegia, while WBFO is limited and maximally achieved at low exercise intensities compared to that achieved by able-bodied individuals during leg ergometry. These findings may partially explain the diminished rates of fat loss imposed by acute bouts of physical activity in those with paraplegia.

  13. Heavy reliance on carbohydrate across a wide range of exercise intensities during voluntary arm ergometry in persons with paraplegia

    PubMed Central

    Jacobs, Kevin A.; Burns, Patricia; Kressler, Jochen; Nash, Mark S.

    2013-01-01

    Context/objective To describe and compare substrate oxidation and partitioning during voluntary arm ergometry in individuals with paraplegia and non-disabled individuals over a wide range of exercise intensities. Design Cross-sectional study. Setting Clinical research facility. Participants Ten apparently healthy, sedentary men with paraplegia and seven healthy, non-disabled subjects. Interventions Rest and continuous progressive voluntary arm ergometry between 30 and 80% of peak aerobic capacity (VO2peak). Outcome measures Total energy expenditure and whole body rates of fat and carbohydrate oxidation. Results A maximal whole body fat oxidation (WBFO) rate of 0.13 ± 0.07 g/minute was reached at 41 ± 9% VO2peak for subjects with paraplegia, although carbohydrate became the predominant fuel source during exercise exceeding an intensity of 30–40% VO2peak. Both the maximal WBFO rate (0.06 ± 0.04 g/minute) and the intensity at which it occurred (13 ± 3% VO2peak) were significantly lower for the non-disabled subjects than those with paraplegia. Conclusion Sedentary individuals with paraplegia are more capable of oxidizing fat during voluntary arm ergometry than non-disabled individuals perhaps due to local adaptations of upper body skeletal muscle used for daily locomotion. However, carbohydrate is the predominant fuel source oxidized across a wide range of intensities during voluntary arm ergometry in those with paraplegia, while WBFO is limited and maximally achieved at low exercise intensities compared to that achieved by able-bodied individuals during leg ergometry. These findings may partially explain the diminished rates of fat loss imposed by acute bouts of physical activity in those with paraplegia. PMID:23941790

  14. Rationales for Challenged Books. [CD-ROM].

    ERIC Educational Resources Information Center

    National Council of Teachers of English, Urbana, IL.

    This CD-ROM presents a collection of over 200 rationales for over 170 works (mainly novels but a few films) for use by teachers combating censorship. Some rationales on the disc are from published sources; others are student papers. Although the materials in the collection range from kindergarten through grade 12, the emphasis is on the middle…

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

    PubMed

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

    2014-04-18

    The spinal cord is vulnerable to ischemic injury due to trauma, vascular malformations and correction of thoracic aortic lesions. Riluzole, a sodium channel blocker and anti-glutamate drug has been shown to be neuroprotective in a model of ischemic spinal cord injury, although the effects in clinically relevant ischemia/reperfusion models are unknown. Here, we examine the effect of riluzole following ischemia-reperfusion injury to the spinal cord. Female rats underwent high thoracic aortic balloon occlusion to produce an ischemia/reperfusion injury. Tolerance to ischemia was evaluated by varying the duration of occlusion. Riluzole (8mg/kg) was injected intraperitoneally 4h after injury. Locomotor function (Basso, Beattie and Bresnahan (BBB) scale) was assessed at 4h, 1day, and 5days post-ischemia. Spinal cords were extracted and evaluated for neuronal loss using immunohistology (choline acetyltransferase (ChAT) and neuronal nuclei (NeuN)), inflammation (CD11b), astrogliosis (glial fibrillary acidic protein - GFAP) and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL). Ischemic injury lasting between 5.5 and 6.75min resulted in delayed paraplegia, whereas longer ischemia induced immediate paraplegia. When riluzole was administered to rats that underwent 6min of occlusion, delayed paraplegia was prevented. The BBB score of riluzole-treated rats was 11.14±4.85 compared with 1.86±1.07 in control animals. Riluzole also reduced neuronal loss, infiltration of microglia/macrophages and astrogliosis in the ventral horn and intermediate zone of the gray matter. In addition, riluzole reduced apoptosis of neurons in the dorsal horn of the gray matter. Riluzole has a neuroprotective effect in a rat model of spinal cord injury/reperfusion when administered up to 4h post-injury, a clinically relevant therapeutic time window. Copyright © 2014 IBRO. Published by Elsevier Ltd. All rights reserved.

  16. [Incomplete paraplegia after delayed diagnostics of motor function deficits. Severe malpractice?].

    PubMed

    Regauer, M; Neu, J

    2013-03-01

    A 72-year-old female patient was transferred to a rehabilitation centre after surgical stabilization of a subtrochanteric femoral fracture. However, adequate mobilization was not possible there and 5 days after transfer deficits in the motor function of both lower extremities were documented for the first time and an initial paraplegia was diagnosed the following day by a neurologist. Magnetic resonance imaging (MRI) revealed the suspicion of an unstable fracture of the seventh thoracic vertebral body 8 days after the initial symptoms, which was confirmed by computed tomography after another 3 days. Surgical decompression and stabilization were performed at a department for neurosurgery 4 days later but incomplete paraplegia persisted permanently. The patient complained about insufficient diagnostic measures at the rehabilitation centre. The expert opinion concluded that it would have been mandatory to investigate the matter of the newly occurring neurological symptoms immediately but this had only been performed after undue delay, which had to be interpreted as a case of medical malpractice. The expert pointed out that it was not possible to provide clear evidence that emergent diagnosis and surgery would have enabled a significantly better outcome.The arbitration board ascertained a lack of examination and argued that prompt and adequate diagnostic measures would have revealed the relevant pathological finding and thus surgery would have been performed immediately. According to the reversal of evidence in favor of the patient it could be assumed that no permanent neurological damage existed when the first neurological symptoms occurred and that emergent surgery at least had the potential to prevent permanent paraplegia. This opinion of the arbitration board is supported by numerous references in the literature.

  17. Using Rasch Motor FIM™ Individual Growth Curves to Inform Clinical Decisions for Persons with Paraplegia

    PubMed Central

    Pretz, Christopher R.; Kozlowski, Allan J.; Charlifue, Susan; Chen, Yuying; Heinemann, Allen W.

    2017-01-01

    Objective To better understand individual-level temporal change in functional status for participants with paraplegia in the National Spinal Cord Injury Database (NSCID), as measured by a Rasch Transformed Motor FIM™ scores. Design Non-linear random effects modeling i.e. individual growth curve (IGC) analysis of retrospective data obtained from the National Institute on Disability and Rehabilitation Research (NIDRR) National Spinal Cord Injury Database. Setting Multi-center longitudinal database study. Participants 4504 participants with paraplegia in the NSCID. Interventions N/A Main Outcome Measure 11-Item Rasch Transformed Motor FIM™. Results We generated non-linear individual level trajectories of recovery for Rasch Transformed Motor FIM™ scores that rise rapidly from inpatient rehabilitation admission to a plateau. The trajectories are based on relationships between growth parameters and the following patient and injury factors: race, gender, level of education at admission, age at injury, neurological level at discharge, ASIA Impairment Scale (AIS) at discharge, days from injury to first system inpatient rehabilitation admission, rehabilitation length of stay, marital status, and etiology. Based on study results an interactive tool was developed to represent individual level longitudinal outcomes as trajectories based upon an individual’s given baseline characteristics i.e. information supplied by the covariates and provides a robust description of temporal change for those with paraplegia within the NSCID. Conclusions This methodology allows researchers and clinicians to generate and better understand patient-specific trajectories through use of an automated interactive tool where numerous longitudinal paths of recovery can be explored. Projected trajectories holds promise in facilitating planning for inpatient and outpatient services, which could positively impact long term outcomes. PMID:24937699

  18. Successful reversal of immediate paraplegia associated with repair of acute Type A aortic dissection using cerebrospinal fluid drainage.

    PubMed

    Shimura, Shinichiro; Cho, Yasunori; Aki, Akira; Ueda, Toshihiko

    2013-12-01

    We present a case of a 49-year old man who suffered from immediate paraplegia upon awakening from anaesthesia after surgery for acute aortic dissection Type A. A catheter was promptly inserted into the spinal canal for cerebrospinal fluid drainage, and the cerebrospinal fluid pressure was maintained <10 cmH2O. Although magnetic resonance imaging showed extensive spinal cord ischaemia, the patient gradually recovered from the paraplegia and was able to walk by himself after rehabilitation. In some cases, cerebrospinal fluid drainage can be effective for the treatment of immediate postoperative spinal cord damage.

  19. Successful reversal of immediate paraplegia associated with repair of acute Type A aortic dissection using cerebrospinal fluid drainage

    PubMed Central

    Shimura, Shinichiro; Cho, Yasunori; Aki, Akira; Ueda, Toshihiko

    2013-01-01

    We present a case of a 49-year old man who suffered from immediate paraplegia upon awakening from anaesthesia after surgery for acute aortic dissection Type A. A catheter was promptly inserted into the spinal canal for cerebrospinal fluid drainage, and the cerebrospinal fluid pressure was maintained <10 cmH2O. Although magnetic resonance imaging showed extensive spinal cord ischaemia, the patient gradually recovered from the paraplegia and was able to walk by himself after rehabilitation. In some cases, cerebrospinal fluid drainage can be effective for the treatment of immediate postoperative spinal cord damage. PMID:24014618

  20. Acute Paraplegia After Aneurysmal SAH: A Case Report of a Rare Complication and Review of the Literature.

    PubMed

    Chiang, Yi-Chun; Lee, Chung-Hsih; Chen, Wen-Hsien; Tsuei, Yuang-Seng

    2016-04-01

    Paraplegia after intracranial aneurysmal subarachnoid hemorrhage (SAH) is a rare condition, and its pathogenesis is still unclear. We present a case of a ruptured basilar dissecting aneurysm treated with the stent-assisted coiling procedure. Progressive weakness of the lower limbs developed within 5 days postoperatively. Spinal magnetic resonance image showed SAH accumulation in the lumbosacral area. Emergency lumbar drainage was performed, and the patient's symptoms improved dramatically. To the best of our knowledge, this is the first report to describe the successful treatment of paraplegia after intracranial aneurysmal SAH. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

    PubMed Central

    Teebi, A S; Miller, S; Ostrer, H; Eydoux, P; Colomb-Brockmann, C; Oudjhane, K; Watters, G

    1998-01-01

    Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes. Images PMID:9733035

  2. Evaluation of a training program for persons with SCI paraplegia using the Parastep 1 ambulation system: part 5. Lower extremity blood flow and hyperemic responses to occlusion are augmented by ambulation training.

    PubMed

    Nash, M S; Jacobs, P L; Montalvo, B M; Klose, K J; Guest, R S; Needham-Shropshire, B M

    1997-08-01

    To test whether 12 weeks of exercise conditioning using functional neuromuscular stimulation (FNS) ambulation alters the resting lower extremity blood flow and hyperemic responses to vascular occlusion in subjects with paraplegia, and to determine whether an association exists between limb flow and lower extremity fat-free mass. Pretest, posttest. Academic medical center. Subjects with chronic neurologically complete paraplegia. Thirty-two sessions of microprocessor-controlled ambulation using electrically stimulated contractions of lower extremity muscles and a rolling walker. Subjects underwent quantitative Doppler ultrasound examination of the common femoral artery (CFA) before and after training. End-diastolic arterial images and arterial flow-velocity profiles obtained at rest and after 5 minutes of suprasystolic thigh occlusion were computer-digitized for analysis of heart rate (HR), CFA peak systolic velocity (PSV), CFA cross-sectional area (CSA), flow velocity integral (FVI), pulse volume (PV), and CFA (arterial) inflow volume (AIV). Significant effects of training on CSA (p < .0001), FVI (p < .05), computed PV (p < .001), and computed AIV (p < .01) were observed. Resting HR was lower following training (p < .05). The change for resting PSV approached but did not reach significance (p = .083). Analysis of postocclusion PV and AIV showed significant effects for conditioning status (p values < .01), postcompression time (p values < .0001), and their interaction (p values < .01). At 1 minute after occlusion, the posttraining AIV response was 78.2% greater in absolute magnitude and 17.4% more robust when expressed as a percentage change from its resting value than before training. Significant correlations were found between thigh fat free mass and both AIV and PV (p values < .05). Exercise training using FNS ambulation increases the resting lower extremity AIV in individuals with paraplegia and augments the hyperemic response to vascular occlusion. Improved

  3. Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

    PubMed Central

    Züchner, Stephan; Wang, Gaofeng; Tran-Viet, Khanh-Nhat; Nance, Martha A.; Gaskell, Perry C.; Vance, Jeffery M.; Ashley-Koch, Allison E.; Pericak-Vance, Margaret A.

    2006-01-01

    Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression–enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease. PMID:16826527

  4. A psychological study of spinal cord injured patients involved in the Madras Paraplegia Project.

    PubMed

    Somasundaram, O; Balakrishnan, S; Ravindran, O S; Shanmugasundaram, T K

    1992-11-01

    The psychological features of spinal cord injured (SCI) patients involved in the Madras Paraplegia Project are described. Three hundred and twenty-eight patients were studied. Based on personality tests, 11% were extroverts, 14% were introverts and 76% were neither extroverts nor introverts. Twenty-four percent of the subjects were neurotic, 11% had a depressive illness, and 26% had pathological anxiety. The study has highlighted the psychological status of SCI patients, and the usefulness of a psychiatric team in the multidisciplinary care of such patients. This is probably the first large psychological study of SCI patients from a developing country.

  5. Hemorrhagic thoracic schwannoma presenting with intradural hematoma and acute paraplegia after spinal manipulation therapy

    PubMed Central

    Goodwin, C. Rory; Sciubba, Daniel; Bydon, Ali; Wolinsky, Jean-Paul; Witham, Timothy; Gokaslan, Ziya L.

    2016-01-01

    Hemorrhagic conversion of spinal schwannomas represents a rare occurrence; also rare is the development of a spinal intradural hematoma after spinal manipulation therapy. We report a unique presentation of paraplegia in a patient who underwent spinal manipulation therapy and was found to have a hemorrhagic thoracic schwannoma at time of surgery in the setting of anti-platelet therapy use. In patients with spinal schwannomas, tumor hemorrhage is a rare occasion, which can be considered in the setting of additive effects of spinal manipulation therapy and antiplatelet therapy. PMID:28377856

  6. REEPing the benefits of an animal model of hereditary spastic paraplegia.

    PubMed

    Deutch, Ariel Y; Hedera, Peter; Colbran, Roger J

    2013-10-01

    The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders.

  7. REEPing the benefits of an animal model of hereditary spastic paraplegia

    PubMed Central

    Deutch, Ariel Y.; Hedera, Peter; Colbran, Roger J.

    2013-01-01

    The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders. PMID:24051371

  8. Irreversible Paraplegia Following One Time Prophylactic Intrathecal Chemotherapy in an Adult Patient with Acute Lymphoblastic Leukemia

    PubMed Central

    Lee, Hea Yong; Im, Sung-il; Kang, Myoung-Hee; Kim, Kwang Min; Kim, Seok Hyun; Kim, Hun-Gu; Kang, Jung Hun

    2008-01-01

    We present an adult female patient who developed irreversible paraplegia and areflexia four days post intrathecal chemotherapy with methotrexate, cytosine arabinoside and hydrocortisone. On magnetic resonance imaging (MRI) of the lumbar spine, diffuse gadolinium enhancement of the anterior spinal nerve roots (ventral roots) was detected. Methylprednisolone was intravenously administered at a daily dose of 30mg/kg for three days. Despite this treatment, flaccid weakness in the lower extremities and urinary retention persisted. Following consolidation chemotherapy, no improvement in neurologic status was noted. Six months later, a follow-up MRI revealed severe atrophy of the thoracic spinal cord. PMID:18306482

  9. Relationship Between Hand Contact Angle and Shoulder Loading During Manual Wheelchair Propulsion by Individuals with Paraplegia

    PubMed Central

    Mulroy, Sara J.; Ruparel, Puja; Hatchett, Patricia E.; Haubert, Lisa Lighthall; Eberly, Valerie J.; Gronley, JoAnne K.

    2015-01-01

    Background: Shoulder loading during manual wheelchair propulsion (WCP) contributes to the development of shoulder pain in individuals with spinal cord injury (SCI). Objective: To use regression analysis to investigate the relationships between the hand contact angle (location of the hand on the pushrim at initial contact and release during the push phase of the WCP cycle) with propulsion characteristics, pushrim forces, and shoulder kinetics during WCP in individuals with paraplegia. Methods: Biomechanical data were collected from 222 individuals (198 men and 24 women) with paraplegia from SCI during WCP on a stationary ergometer at a self-selected speed. The average age of participants was 34.7 years (±9.3), mean time since SCI was 9.3 years (±6.1), and average body weight was 74.4 kg (±15.9). The majority (n = 127; 56%) of participants had lower level paraplegia (T8 to L5) and 95 (42%) had high paraplegia (T2 to T7). Results: Increased push arc (mean = 75.3°) was associated with greater velocity (R = 0.384, P < .001) and cycle distance (R = 0.658, P < .001) and reduced cadence (R = -0.419, P < .001). Initial contact angle and hand release angles were equally associated with cycle distance and cadence, whereas a more anterior release angle was associated with greater velocity (R = 0.372, P < .001). When controlling for body weight, a more posterior initial contact angle was associated with greater posterior shoulder net joint force (R = 0.229, P = .001) and greater flexor net joint moment (R = 0.204, P = .002), whereas a more anterior hand release angle was significantly associated with increased vertical (R = 0.270, P < .001) and greater lateral (R = .293, P < .001) pushrim forces; greater shoulder net joint forces in all 3 planes — posterior (R = 0.164, P = .015), superior (R = 0.176, P = .009), and medial (R = 0.284, P < .001); and greater external rotator (R = 0.176, P = .009) and adductor (R = 0.259, P = .001) net joint moments. Conclusions: Current

  10. Relationship Between Hand Contact Angle and Shoulder Loading During Manual Wheelchair Propulsion by Individuals with Paraplegia.

    PubMed

    Requejo, Philip Santos; Mulroy, Sara J; Ruparel, Puja; Hatchett, Patricia E; Haubert, Lisa Lighthall; Eberly, Valerie J; Gronley, JoAnne K

    2015-01-01

    Shoulder loading during manual wheelchair propulsion (WCP) contributes to the development of shoulder pain in individuals with spinal cord injury (SCI). To use regression analysis to investigate the relationships between the hand contact angle (location of the hand on the pushrim at initial contact and release during the push phase of the WCP cycle) with propulsion characteristics, pushrim forces, and shoulder kinetics during WCP in individuals with paraplegia. Biomechanical data were collected from 222 individuals (198 men and 24 women) with paraplegia from SCI during WCP on a stationary ergometer at a self-selected speed. The average age of participants was 34.7 years (±9.3), mean time since SCI was 9.3 years (±6.1), and average body weight was 74.4 kg (±15.9). The majority (n = 127; 56%) of participants had lower level paraplegia (T8 to L5) and 95 (42%) had high paraplegia (T2 to T7). Increased push arc (mean = 75.3°) was associated with greater velocity (R = 0.384, P < .001) and cycle distance (R = 0.658, P < .001) and reduced cadence (R = -0.419, P <.001). Initial contact angle and hand release angles were equally associated with cycle distance and cadence, whereas a more anterior release angle was associated with greater velocity (R = 0.372, P < .001). When controlling for body weight, a more posterior initial contact angle was associated with greater posterior shoulder net joint force (R = 0.229, P = .001) and greater flexor net joint moment (R = 0.204, P = .002), whereas a more anterior hand release angle was significantly associated with increased vertical (R = 0.270, P < .001) and greater lateral (R = .293, P < .001) pushrim forces; greater shoulder net joint forces in all 3 planes - posterior (R = 0.164, P = .015), superior (R = 0.176, P = .009), and medial (R = 0.284, P < .001); and greater external rotator (R = 0.176, P = .009) and adductor (R = 0.259, P = .001) net joint moments. Current clinical practice guidelines recommend using long, smooth

  11. Rapid Recovery from Paraplegia in a Patient with Foix-Alajouanine Syndrome.

    PubMed

    Joswig, Holger; Haji, Faizal A; Martinez-Perez, Rafael; Steven, David A; Boulton, Melfort R

    2017-01-01

    Foix-Alajouanine syndrome is defined as acute neurologic deterioration in the setting of a spinal dural arteriovenous fistula. This case report on a young patient with an unusual clinical onset of Foix-Alajouanine syndrome coincidentally occurring after his outpatient clinic appointment illustrates how prompt surgical treatment can result in rapid recovery of neurologic function despite preoperative paraplegia. Venous hypertension with subsequent rapid resolution after surgical treatment is the pathophysiological mechanism underlying a dural arteriovenous fistula, in contrast to historical views suggesting that these lesions result from irreversible venous thrombosis, resulting in necrotic myelopathy. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Aortic aneurysm in a patient with syphilis-related spinal pain and paraplegia.

    PubMed

    de Araujo, Daniel Brito; Oliveira, Danise Senna; Rovere, Rodrigo Kraft; de Oliveira Filho, Umberto Lopes

    2017-01-01

    The tertiary stage of syphilis is nowadays extremely rare, showing predilection for the cardiovascular and nervous systems. A 57-year-old Caucasian man sought medical assistance due to back pain that evolved to paraplegia of the lower limbs. A thoracic CT scan demonstrated an important aneurysmatic lesion of the descending thoracic aorta causing erosion of the vertebral bodies and VDRL and FTA-abs positivity. Although rare, syphilitic aortitis, the hallmark of cardiovascular syphilis, should be considered in the differential diagnosis in patients with thoracic aneurysm when in the absence of classic risk factors for atherosclerosis, especially in cases that progress with erosion of vertebral bodies.

  13. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.

    PubMed

    Tariq, Huma; Naz, Sadaf

    2017-01-25

    Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C>T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with that reported previously, revealed differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. Our findings extend the phenotypic spectrum associated with the TFG mutations in HSP.

  14. Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.

    PubMed Central

    Fitzsimmons, J S; Watson, A R; Mellor, D; Guilbert, P R

    1988-01-01

    We present a family in which at least four persons have evidence of an inherited disorder comprising a variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and a progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger's disease) were found on renal renal biopsy in two affected persons. The glomerular basement membrane showed none of the changes characteristic of Alport's syndrome. Males and females are affected and the segregation of the disease is consistent with dominant transmission. Images PMID:3351903

  15. Bioethics: A Rationale and a Model

    ERIC Educational Resources Information Center

    Barman, Charles R.; Rusch, John J.

    1978-01-01

    Discusses the rationale for and development of an undergraduate bioethics course. Based on experiences with the course, general suggestions are offered to instructors planning to add bioethics to existing curricula. (MA)

  16. Bioethics: A Rationale and a Model

    ERIC Educational Resources Information Center

    Barman, Charles R.; Rusch, John J.

    1978-01-01

    Discusses the rationale for and development of an undergraduate bioethics course. Based on experiences with the course, general suggestions are offered to instructors planning to add bioethics to existing curricula. (MA)

  17. The Relationship of Shoulder Pain Intensity to Quality of Life, Physical Activity, and Community Participation in Persons With Paraplegia

    PubMed Central

    Gutierrez, Dee D; Thompson, Lilli; Kemp, Bryan; Mulroy, Sara J

    2007-01-01

    Background/Objective: For persons with spinal cord injury (SCI), severe bodily pain is related to a lower quality of life. However, the effect of pain from a specific body region on quality of life has yet to be determined. The shoulder joint is a common site of pain among persons with SCI. Therefore, our purpose was to identify the relationship of self-reported shoulder pain with quality of life, physical activity, and community activities in persons with paraplegia resulting from SCI. Methods: Eighty participants with shoulder pain who propel a manual wheelchair (mean age: 44.7 years; mean duration of injury: 20 years; injury level T1-L2) completed the following questionnaires: Wheelchair User's Shoulder Pain Index, Subjective Quality of Life Scale, Physical Activity Scale for Individuals with Physical Disabilities, and Community Activities Checklist. Correlations between shoulder pain scores and quality of life, physical activity, and community activities were determined using Spearman's rho test. Results: Shoulder pain intensity was inversely related to subjective quality of life (rs = − 0.35; P =0.002) and physical activity (rs = − 0.42; P < 0.001). Shoulder pain intensity was not related to involvement in community activities (rs =− 0.07; P = 0.526). Conclusions: Persons with SCI who reported lower subjective quality of life and physical activity scores experienced significantly higher levels of shoulder pain. However, shoulder pain intensity did not relate to involvement in general community activities. Attention to and interventions for shoulder pain in persons with SCI may improve their overall quality of life and physical activity. PMID:17684891

  18. The relationship of shoulder pain intensity to quality of life, physical activity, and community participation in persons with paraplegia.

    PubMed

    Gutierrez, Dee D; Thompson, Lilli; Kemp, Bryan; Mulroy, Sara J

    2007-01-01

    For persons with spinal cord injury (SCI), severe bodily pain is related to a lower quality of life. However, the effect of pain from a specific body region on quality of life has yet to be determined. The shoulder joint is a common site of pain among persons with SCI. Therefore, our purpose was to identify the relationship of self-reported shoulder pain with quality of life, physical activity, and community activities in persons with paraplegia resulting from SCI. Eighty participants with shoulder pain who propel a manual wheelchair (mean age: 44.7 years; mean duration of injury: 20 years; injury level T1-L2) completed the following questionnaires: Wheelchair User's Shoulder Pain Index, Subjective Quality of Life Scale, Physical Activity Scale for Individuals with Physical Disabilities, and Community Activities Checklist. Correlations between shoulder pain scores and quality of life, physical activity, and community activities were determined using Spearman's rho test. Shoulder pain intensity was inversely related to subjective quality of life (r(s) =-0.35; P= 0.002) and physical activity (r(s) = -0.42; P < 0.001). Shoulder pain intensity was not related to involvement in community activities (r(s) = -0.07; P = 0.526). Persons with SCI who reported lower subjective quality of life and physical activity scores experienced significantly higher levels of shoulder pain. However, shoulder pain intensity did not relate to involvement in general community activities. Attention to and interventions for shoulder pain in persons with SCI may improve their overall quality of life and physical activity.

  19. Progressive Paraplegia from Spinal Cord Stimulator Lead Fibrotic Encapsulation: A Case Report.

    PubMed

    Benfield, Jon; Maknojia, Asif; Epstein, Franklin

    2016-03-01

    Ten years after placement of a spinal cord stimulator (SCS) and resolution of pain, this patient presented with progressive paraplegia, worsening thoracic radicular pain at the same dermatome level of the electrodes, and bowel and bladder incontinence. Computed tomographic myelogram confirmed thoracic spinal cord central canal stenosis at the level of electrodes. After removal of the fibrotic tissue and electrodes, the patient had resolution of his thoracic radicular pain and a return of his pre-SCS pain and minimal neurologic and functional return. To the authors' knowledge, no studies have been identified with thoracic SCS lead fibrosis in the United States causing permanent paraplegia. Only one other case has been reported in Madrid, Spain. Patients with SCS presenting with loss of pain relief, new-onset radicular or neuropathic pain in same dermatome(s) as SCS electrodes, worsening neuromuscular examination, or new bladder or bowel incontinence need to be evaluated for complications regarding SCS implantation causing spinal stenosis and subsequent cord compression to avoid permanent neurologic deficits.

  20. C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients.

    PubMed

    Luo, Yingying; Jiao, Bin; Wang, Junling; Du, Juan; Yan, Xinxiang; Xia, Kun; Tang, Beisha; Shen, Lu

    2014-12-15

    Recently, a hexanucleotide repeat expansion in the C9orf72 gene has been identified to cause frontotemporal dementia, amyotrophic lateral sclerosis families and many other neurodegenerative diseases. Owing to the overlapping phenotypes among HSP, frontotemporal dementia and amyotrophic lateral sclerosis we hypothesized that C9orf72 expansions might be a genetic risk factor or modifier of HSP. The aim of this study was to find out whether C9orf72 expansions also confer risk to spastic paraplegia (SPG). We recruited 112 genetically unidentified SPG patients, 68 SPG4 patients and 313 controls in mainland China to determine if hexanucleotide repeat of C9orf72 plays a role in spastic paraplegia. No large expansion was detected in all subjects. C9orf72 repeat expansions were not associated with onset of HSP. Our results support the notion that repeat expansions in C9orf72 may not be associated with HSP in China. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Bladder and rectal incontinence without paraplegia or paraparesis after endovascular aneurysm repair.

    PubMed

    Nishioka, Naritomo; Kurimoto, Yoshihiko; Maruyama, Ryushi; Ujihira, Kosuke; Iba, Yutaka; Hatta, Eiichiro; Yamada, Akira; Nakanishi, Katsuhiko

    2016-12-01

    Spinal cord ischemia is a well-known potential complication of endovascular aneurysm repair (EVAR), and it is usually manifested by paraplegia or paraparesis. We describe a case in which spinal cord ischemia after EVAR presented by isolated bladder and rectal incontinence without other neurological deficits. A 63-year-old woman presented with intermittent claudication secondary to an infrarenal abdominal aortic aneurysm (AAA), and a left common iliac artery obstruction, for which she underwent EVAR using an aorto-uniiliac (AUI) device and ilio-femoral artery bypass. On postoperative day 3, she developed urinary and fecal incontinence without signs of paraplegia or paraparesis. Magnetic resonance imaging (MRI) showed a hyper-intense signal in the spinal cord. She received hyperbaric oxygen (HBO) therapy and was discharged after 18 days when her urinary and fecal incontinence were almost resolved. This report suggests that spinal cord ischemia after EVAR for aortoiliac occlusive disease might present as bladder and rectal incontinence without other neurological manifestations.

  2. Active lower limb orthosis with one degree of freedom for people with paraplegia.

    PubMed

    Gloger, Michal; Obinata, Goro; Genda, Eiichi; Babjak, Jan; Pei, Yanling

    2017-07-01

    The main challenges of designing devices for paraplegic walking can be summarized into three groups, stability and comfort, high efficiency or low energy consumption, dimensions and weight. A new economical device for people with paraplegia which tackles all problems of the three groups is introduced in this paper. The main idea of this device is based on HALO mechanism. HALO is compact passive medial hip joint orthosis with contralateral hip and ankle linkage, which keeps the feet always parallel to the ground and assists swinging the leg. The medial hip joint is equipped with one actuator in the new design and the new orthosis is called @halo. Due to this update, we can achieve more stable and smoother walking patterns with decreased energy consumption of the users, yet maintain its compact and lightweight features. It is proven by the results from preliminary experiments with able-bodied subjects during which the same device with and without actuator was evaluated. Waddling and excessive vertical elevation of the center of gravity were decreased by 40% with significantly smaller standard deviations in case of the active orthosis. There was 52% less energy spent by the user wearing @halo which was calculated from the vertical excursion difference. There was measured 38.5% bigger impulse in crutches while using passive orthosis. The new @halo device is the first active orthosis for lower limbs with just one actuated degree of freedom for users with paraplegia.

  3. Powered Lower-Limb Exoskeletons to Restore Gait for Individuals with Paraplegia - a Review.

    PubMed

    Chang, Sarah R; Kobetic, Rudi; Audu, Musa L; Quinn, Roger D; Triolo, Ronald J

    2015-01-01

    Individuals with paraplegia due to spinal cord injury rank restoration of walking high on the list of priorities to improving their quality of life. Powered lower-limb exoskeleton technology provides the ability to restore standing up, sitting down, and walking movements for individuals with paraplegia. The robotic exoskeletons generally have electrical motors located at the hip and knee joint centers, which move the wearers' lower limbs through the appropriate range of motion for gait according to control systems using either trajectory control or impedance control. Users of exoskeletons are able to walk at average gait speeds of 0.26 m/s and distances ranging between 121-171 m. However, the achieved gait speeds and distances fall short of those required for full community ambulation (0.8 m/s and at least 230 m), restricting use of the devices to limited community use with stand-by assist or supervised rehabilitation settings. Improvement in the gait speed and distance may be achievable by combining a specially designed powered exoskeleton with neuromuscular stimulation technologies resulting in a hybrid system that fully engages the user and achieves the necessary requirements to ambulate in the community environment with benefits of muscle contraction.

  4. Powered Lower-Limb Exoskeletons to Restore Gait for Individuals with Paraplegia – a Review

    PubMed Central

    Chang, Sarah R.; Kobetic, Rudi; Audu, Musa L.; Quinn, Roger D.; Triolo, Ronald J.

    2016-01-01

    Individuals with paraplegia due to spinal cord injury rank restoration of walking high on the list of priorities to improving their quality of life. Powered lower-limb exoskeleton technology provides the ability to restore standing up, sitting down, and walking movements for individuals with paraplegia. The robotic exoskeletons generally have electrical motors located at the hip and knee joint centers, which move the wearers' lower limbs through the appropriate range of motion for gait according to control systems using either trajectory control or impedance control. Users of exoskeletons are able to walk at average gait speeds of 0.26 m/s and distances ranging between 121-171 m. However, the achieved gait speeds and distances fall short of those required for full community ambulation (0.8 m/s and at least 230 m), restricting use of the devices to limited community use with stand-by assist or supervised rehabilitation settings. Improvement in the gait speed and distance may be achievable by combining a specially designed powered exoskeleton with neuromuscular stimulation technologies resulting in a hybrid system that fully engages the user and achieves the necessary requirements to ambulate in the community environment with benefits of muscle contraction. PMID:28004009

  5. Using Rasch motor FIM individual growth curves to inform clinical decisions for persons with paraplegia.

    PubMed

    Pretz, C R; Kozlowski, A J; Charlifue, S; Chen, Y; Heinemann, A W

    2014-09-01

    A longitudinal retrospective study. To better understand individual-level temporal change in functional status for participants with paraplegia in the National Spinal Cord Injury Database (NSCID), as measured by Rasch Transformed Motor Functional Indepedence Measure (FIM) scores. Multicenter/Multistate longitudinal study across the United States. Non-linear random effects modeling, that is, individual growth curve analysis of retrospective data obtained from the National Institute on Disability and Rehabilitation Research (NIDRR) NSCID. We generated non-linear individual level trajectories of recovery for Rasch Transformed Motor FIM scores that rise rapidly from inpatient rehabilitation admission to a plateau. Trajectories are based on relationships between growth parameters and patient and injury factors: race, gender, level of education at admission, age at injury, neurological level at discharge, American Spinal Injury Association Impairment Scale (AIS) at discharge, days from injury to first system inpatient rehabilitation admission, rehabilitation length of stay, marital status and etiology. On the basis of study results, an interactive tool was developed to represent individual level longitudinal outcomes as trajectories based upon an individual's given baseline characteristics, that is, information supplied by the covariates and provides a robust description of temporal change for those with paraplegia within the NSCID. This methodology allows researchers and clinicians to generate and better understand patient-specific trajectories through the use of an automated interactive tool where a nearly countless number of longitudinal paths of recovery can be explored. Projected trajectories holds promise in facilitating planning for inpatient and outpatient services, which could positively impact long term outcomes.

  6. Paraplegia caused by posture during MRI in a patient with cervical disk herniation.

    PubMed

    Kato, Yoshihiko; Nishida, Norihiro; Taguchi, Toshihiko

    2010-06-09

    A 48-year-old man presented with numbness in the lower left extremity of 4 months' duration. One month earlier, he presented to an orthopedic clinic and magnetic resonance imaging (MRI) revealed cervical disk herniation. Because the pain did not subside, he visited the clinic again and MRI was performed. His neck was slightly extended and fixed to the headrest of the MRI instrument. Because of the posture of his cervical spine, he suffered severe pain in the scapular region during the MRI. After 15 minutes the pain was unbearable and the MRI examination was aborted. As the patient tried to descend from the MRI table, he was unable to move his bilateral lower extremities. No muscle contraction was observed in his lower limbs. Following MRI with flexion posture of the cervical spine, he was diagnosed with paraplegia caused by cervical disk herniation. Emergency surgery consisting of anterior decompression and fusion was performed. The patient showed good neurological recovery. Three weeks postoperatively, the patient could walk without assistance and he was discharged. The extension posture of the cervical spine during MRI was considered to be the cause of acute paraplegia in this patient. Care should be taken with the posture of the cervical spine, when performing MRI in patients with cervical disk herniation. Extended posture of the cervical spine during MRI may lead to acute neurological deterioration. Copyright 2010, SLACK Incorporated.

  7. A Pilot Study To Assess the Relationships among Coping, Self-Efficacy and Functional Improvement in Men with Paraplegia.

    ERIC Educational Resources Information Center

    Lou, M. F.; And Others

    1997-01-01

    A study of four men with paraplegia admitted to a rehabilitation ward investigated the relationship between levels of coping, self-efficacy, and improvement in rehabilitation performance. The subjects using more coping strategies had more rehabilitation improvement after the first month and those using problem-oriented coping strategies showed…

  8. Effect of increased load on scapular kinematics during manual wheelchair propulsion in individuals with paraplegia and tetraplegia.

    PubMed

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

    2012-04-01

    Repetitive loading of the upper extremity musculature during activities like wheelchair propulsion can lead to fatigue of surrounding musculature causing irregular segment kinematics. The goal of this study was to determine the effect of increase in load on the kinematics of the scapula in users with paraplegia and tetraplegia. Data were collected on 18 participants (11 with paraplegia and 7 with tetraplegia) using an electromagnetic motion tracking system (100Hz) and force sensing pushrim (200Hz). The participants propelled under no load and loaded conditions at their customary propulsion velocity. On average a 60N increase in force was elicited with the experimental protocol. Users with tetraplegia showed significant increases (p<.05) in the rate of change of scapular angles in the upward/downward rotation and the retraction/protraction direction under the loaded conditions, whereas users with paraplegia only showed difference in the retraction/protraction rotation direction. Overall both user populations moved towards position of increased downward rotation, anterior tilt and protraction with increase in load hence increasing the risk of impingement. This experiment adds depth to our understanding of dynamic scapular kinematics during wheelchair propulsion under different loading conditions and differences in scapular control between users with paraplegia and tetraplegia.

  9. Full Body Gait Analysis May Improve Diagnostic Discrimination Between Hereditary Spastic Paraplegia and Spastic Diplegia: A Preliminary Study

    ERIC Educational Resources Information Center

    Bonnefoy-Mazure, A.; Turcot, K.; Kaelin, A.; De Coulon, G.; Armand, S.

    2013-01-01

    Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possible tool to support the differential diagnosis of HSP and SD. Previous analysis has focused on the lower-body…

  10. A Pilot Study To Assess the Relationships among Coping, Self-Efficacy and Functional Improvement in Men with Paraplegia.

    ERIC Educational Resources Information Center

    Lou, M. F.; And Others

    1997-01-01

    A study of four men with paraplegia admitted to a rehabilitation ward investigated the relationship between levels of coping, self-efficacy, and improvement in rehabilitation performance. The subjects using more coping strategies had more rehabilitation improvement after the first month and those using problem-oriented coping strategies showed…

  11. Full Body Gait Analysis May Improve Diagnostic Discrimination Between Hereditary Spastic Paraplegia and Spastic Diplegia: A Preliminary Study

    ERIC Educational Resources Information Center

    Bonnefoy-Mazure, A.; Turcot, K.; Kaelin, A.; De Coulon, G.; Armand, S.

    2013-01-01

    Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possible tool to support the differential diagnosis of HSP and SD. Previous analysis has focused on the lower-body…

  12. Differences in functioning of individuals with tetraplegia and paraplegia according to the International Classification of Functioning, Disability and Health (ICF).

    PubMed

    Herrmann, K H; Kirchberger, I; Biering-Sørensen, F; Cieza, A

    2011-04-01

    Cross-sectional, multicenter study. To identify and quantify the differences in functioning of individuals with tetraplegia versus paraplegia using the International Classification of Functioning, Disability and Health (ICF) as a frame of reference. International. Functional problems of 1048 participants with spinal cord injury in 16 study centers in 14 countries were recorded using ICF categories. The level of significance and odds ratios (OR) for experiencing each of these functional problems were reported for individuals with tetraplegia and paraplegia. Regression models were adjusted for age, age squared, early post-acute or long-term context, gender and for world regions. Persons with tetraplegia are more at risk than persons with paraplegia to have difficulties in 36.4% categories of the component body functions. In the component body structures, 40% of the categories show significant differences. Individuals with tetraplegia indicate problems in three categories, whereas individuals with paraplegia are more likely to indicate problems in one category. Most categories indicating difficulties (56.6%) for persons with tetraplegia were found for the component activities and participation. The component with the highest congruency was the environmental factors. Overall, 3.7% categories (of the persons with tetraplegia as experienced, 2.4% of the categories as barriers, whereas 4.9% were experienced to be facilitators) obtained OR, indicating individuals with tetraplegia having more difficulties. The logistic regression analysis identified a variety of differences in functional problems in individuals with tetraplegia compared with individuals with paraplegia. The ICF has the potential to indicate the differences in health conditions.

  13. Ultrasonographic Median Nerve Changes After Repeated Wheelchair Transfers in Persons With Paraplegia: Relationship With Subject Characteristics and Transfer Skills.

    PubMed

    Hogaboom, Nathan S; Diehl, Jessica A; Oyster, Michelle L; Koontz, Alicia M; Boninger, Michael L

    2016-04-01

    Wheelchair users with spinal cord injuries are susceptible to peripheral neuropathies from overuse, yet no studies have established a relationship between median neuropathy and wheelchair transfers. A more thorough understanding of how transfers and technique contribute to pathologic conditions may guide interventions that curtail its development. To evaluate the effects of repeated transfers on ultrasound markers for carpal tunnel syndrome (CTS) in people with spinal cord injuries and to relate changes to subject characteristics and transfer skills. Cross-sectional, repeated measures. Research laboratory and national wheelchair sporting events. A convenience sample of 30 wheelchair users with nonprogressive paraplegia were recruited via research registries and at the 2013 National Veterans Wheelchair Games and 2014 Paralyzed Veterans of America Buckeye Games. Participants were older than 18 years and could complete transfers independently within 30 seconds without use of their leg muscles. Demographic questionnaires and physical examinations for CTS were completed. Quantitative ultrasound techniques were used to measure changes in the median nerve after a repeated-transfers protocol. The Transfer Assessment Instrument (TAI) was completed to quantify transfer ability. Median nerve cross-sectional area at the level of the pisiform (PCSA) and swelling ratio (SR), transfer quality, and skills via the TAI. PCSA increased after repeated transfers (P < .025). Participants who used safe hand positions had a lower baseline SR (β = -0.728; P < .01). Participants with a higher body weight had a lower baseline SR provided they performed higher quality transfers. Participants who scooted to the front of the seat prior to transferring (TAI item 7; β = 0.144; P < .05) and who weighed more (β = 0.142; P < .05) exhibited greater increases in PCSA in response to transfers. An acute increase was observed in median nerve CSA at the pisiform after repeated wheelchair transfers

  14. A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

    PubMed Central

    Fontaine, Bertrand; Davoine, Claire-Sophie; Dürr, Alexandra; Paternotte, Caroline; Feki, Imed; Weissenbach, Jean; Hazan, Jamilé; Brice, Alexis

    2000-01-01

    Summary Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3.03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps. PMID:10677329

  15. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

    PubMed

    Amorim, Simone; Heise, Carlos Otto; Santos, Silvana; Macedo-Souza, Lúcia Ines; Zatz, Mayana; Kok, Fernando

    2014-01-01

    SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves. Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs. The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition. Copyright © 2013 Wiley Periodicals, Inc.

  16. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

    PubMed Central

    Heinzlef, O; Paternotte, C; Mahieux, F; Prud'homme, J F; Dien, J; Madigand, M; Pouget, J; Weissenbach, J; Roullet, E; Hazan, J

    1998-01-01

    Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347. PMID:9507385

  17. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

    PubMed

    Helbig, Katherine L; Hedrich, Ulrike B S; Shinde, Deepali N; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L; Vainionpää, Leena; Karle, Kathrin N; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R

    2016-10-01

    The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K(+) -channel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp recordings of Xenopus laevis oocytes expressing mutant KV 1.2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism. Ann Neurol 2016. © 2016 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.

  18. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

    PubMed Central

    Helbig, Katherine L.; Hedrich, Ulrike B.S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne‐Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao‐Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpää, Leena; Karle, Kathrin N.; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca; Lehesjoki, Anna‐Elina; Helbig, Ingo; Lerche, Holger

    2016-01-01

    The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage‐gated K+‐channel, KV1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow‐up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two‐electrode voltage‐clamp recordings of Xenopus laevis oocytes expressing mutant KV1.2 channels showed loss of function with a dominant‐negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism. Ann Neurol 2016 PMID:27543892

  19. FUNCTIONAL RECOVERY IN RATS WITH ISCHEMIC PARAPLEGIA AFTER SPINAL GRAFTING OF HUMAN SPINAL STEM CELLS

    PubMed Central

    Cizkova, Dasa; Kakinohana, Osamu; Kucharova, Karolina; Marsala, Silvia; Johe, Karl; Hazel, Thomas; Hefferan, Michael P.; Marsala, Martin

    2009-01-01

    Transient spinal cord ischemia in humans can lead to the development of permanent paraplegia with prominent spasticity and rigidity. Histopathological analysis of spinal cords in animals with ischemic spastic paraplegia show a selective loss of small inhibitory interneurons in previously ischemic segments but with a continuing presence of ventral α-motoneurons and descending cortico-spinal and rubro-spinal projections. The aim of the present study was to examine the effect of human spinal stem cells (hSSCs) implanted spinally in rats with fully developed ischemic paraplegia on the recovery of motor function and corresponding changes in motor evoked potentials. In addition the optimal time frame for cell grafting after ischemia and the optimal dosing of grafted cells were also studied. Spinal cord ischemia was induced for 10 min using intra-aortic balloon and systemic hypotension. In the functional recovery study, hSSCs (10 000–30 000 cells/0.5 μl/injection) were grafted into spinal central gray matter of L2-L5 segments at 21 days after ischemia. Animals were immunosuppressed with Prograf (1mg/kg or 3mg/kg) for the duration of the study. After cell grafting the recovery of motor function was assessed periodically using BBB scoring system and correlated with the recovery of motor evoked potentials. At predetermined times after grafting (2–12 weeks), animals were perfusion-fixed and the survival, and maturation of implanted cells were analyzed using antibodies recognizing human-specific antigens: nuclear protein (hNUMA), neural cell adhesion molecule (hMOC), neuron-specific enolase (hNSE) and synapthophysin (hSYN) as well as the non-human specific antibodies TUJ1, GFAP, GABA, GAD65 and GLYT2. After cell grafting a time-dependent improvement in motor function and suppression of spasticity and rigidity was seen and this improvement correlated with the recovery of motor evoked potentials. Immunohistochemical analysis of grafted lumbar segments at 8 and 12 weeks

  20. [Surgical treatment of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity and paraplegia].

    PubMed

    Hu, Jiang; Wang, Yue; Liu, Zhongqian; Tang, Liuyi; Wan, Lun; Zhang, Yaoming; Deng, Juncai

    2014-09-01

    To explore an method and the effectiveness of surgical treatment of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity (Cobb angle ≥ 55°) and paraplegia. Between January 2009 and January 2013, 13 cases of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity and paraplegia were treated by one-stage posterior vertebral column resection (PVCR), debridement, bone grafting, and instrumentation fixation. Of 13 patients, 7 were male and 6 were female with an average age of 23.5 years (range, 14-49 years). The disease duration was 13-38 months (mean, 19 months). The Cobb angle of kyphosis was (65.23 ± 7.95)°. The visual analogue scale score (VAS) was 7.38 ± 0.31. In 13 patients with incomplete paraplegia, 1 case was classified as Frankel grade B, 7 cases as grade C, and 5 cases as grade D. The lesion involved 2 vertebrae bodies in 7 cases (T8, 9 in 1 case, T11, 12 in 2 cases, and T12, L1 in 4 cases), 3 vertebrae bodies in 4 cases (T10-12 in 2 cases, T9-11 in 1 case, and T11-L1 in 1 case), and 4 vertebrae bodies in 2 cases (T4-7 in 1 case and T6-9 in 1 case). Imaging examination showed paravertebral abscess in 10 cases. Healing of incision by first intention was obtained in all patients. The neurological injury and pulmonary infection occurred in 3 cases and 2 cases respectively, which were cured after symptomatic treatment. Thirteen patients were followed up 12-48 months (mean, 17 months). The erythrocyte sedimentation rate restored to normal level in all cases at 3-7 months after operation. All the patients achieved bony fusion at 10-20 months (mean, 14 months) after operation. No fixation loosening, displacement, or fracture occurred during follow-up. Common toxic symptom of tuberculosis disappeared, and there was no recurrence of local tuberculosis. The Cobb angle of kyphosis was corrected to (22.38 ± 1.76)° at 1 week and (22.15 ± 1.83)° at last follow-up, showing significant difference when compared with

  1. Mobile spinal enterogenous cyst resulting in intermittent paraplegia in a child: case report.

    PubMed

    Kojima, Satoko; Yoshimura, Junichi; Takao, Tetsuro; Tamura, Tetsuro; Nishiyama, Kenichi; Maruyama, Shigeru; Suda, Masashi; Fujii, Yukihiko

    2016-10-01

    The authors report the case of a mobile spinal enterogenous cyst in a 2-year-old boy, who was admitted to the hospital several times for intermittent paraplegia. Magnetic resonance imaging and CT revealed an isolated cyst in the lumbar spinal canal. The symptoms were caused by transient myelopathy of the conus medullaris and radiculopathy of the cauda equina due to the changing size and location of the cyst. The cyst was surgically extirpated, after which the symptoms resolved. The histopathological diagnosis was enterogenous cyst. The clinical history of intraspinal enterogenous cyst is usually progressive. Mobility and changes in size are rare pathophysiological findings. The authors speculate that the cyst wall did not adhere to the surrounding structures and had ruptured and quickly reformed. Enterogenous cyst should be considered in the differential diagnosis of spinal intradural cysts in children with radiculomyelopathy.

  2. Enabling Task-Specific Volitional Motor Functions via Spinal Cord Neuromodulation in a Human With Paraplegia.

    PubMed

    Grahn, Peter J; Lavrov, Igor A; Sayenko, Dimitry G; Van Straaten, Meegan G; Gill, Megan L; Strommen, Jeffrey A; Calvert, Jonathan S; Drubach, Dina I; Beck, Lisa A; Linde, Margaux B; Thoreson, Andrew R; Lopez, Cesar; Mendez, Aldo A; Gad, Parag N; Gerasimenko, Yury P; Edgerton, V Reggie; Zhao, Kristin D; Lee, Kendall H

    2017-04-01

    We report a case of chronic traumatic paraplegia in which epidural electrical stimulation (EES) of the lumbosacral spinal cord enabled (1) volitional control of task-specific muscle activity, (2) volitional control of rhythmic muscle activity to produce steplike movements while side-lying, (3) independent standing, and (4) while in a vertical position with body weight partially supported, voluntary control of steplike movements and rhythmic muscle activity. This is the first time that the application of EES enabled all of these tasks in the same patient within the first 2 weeks (8 stimulation sessions total) of EES therapy. Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  3. Disseminated mycobacteriosis manifesting as paraplegia in two Parma wallabies (Macropus parma) naturally exposed to Mycobacterium avium.

    PubMed

    Robveille, Cynthia; Albaric, Olivier; Gaide, Nicolas; Abadie, Jérome

    2015-11-01

    Two captive female Parma wallabies (Macropus parma) died after a history of flaccid paraplegia. On postmortem examination, granulomatous and suppurative osteomyelitis involving the left ischium and the lumbosacral region, with meningeal extension at the cauda equina, and caseonecrotic mastitis were the most significant changes. Multiple small nodules in the liver and spleen, and an enlargement of some lymph nodes with central caseous necrosis were also observed. Microscopically, a disseminated granulomatous inflammation with numerous multinucleate giant cells was seen. Numerous acid-fast bacilli were detected in macrophages, in multinucleated giant cells, and free in the central necrosis and suppurative exudate. After culture, polymerase chain reaction assays were carried out to detect the 65-kDa heat shock protein (Hsp65) and insertion sequences (IS)1245 and IS900. The causative agent was identified as Mycobacterium avium subsp. avium. © 2015 The Author(s).

  4. Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q

    SciTech Connect

    Fink, J.K.; Wu, C.B.; Jones, S.M.; Lesicki, A.; Reinglass, T.; Sharp, G.B.; Lange, B.M.; Varvil, T.; Otterud, B.; Leppert, M.

    1995-01-01

    Autosomal dominant, uncomplicated familial spastic paraplegia (FSP) is a genetically heterogeneous disorder characterized by insidiously progressive lower-extremity spasticity. Recently, a locus on chromosome 14q was shown to be tightly linked with the disorder in one of three families. We performed linkage analysis in a kindred with autosomal dominant uncomplicated FSP. After excluding the chromosome 14q locus, we observed tight linkage of the disorder to a group of markers on chromosome 15q (maximum two-point lod score 9.70; {theta} = .05). Our results clearly establish the existence of a locus for autosomal dominant FSP in the centromeric region of chromosome 15q. Comparing clinical and genetic features in FSP families linked to chromosome 14q with those linked to chromosome 15q may provide insight into the pathophysiology of this disorder. 34 refs., 1 fig., 1 tab.

  5. Paraplegia due to Missed Thoracic Meningioma after Laminotomy for Lumbar Spinal Stenosis: Report of Two Cases

    PubMed Central

    Lee, Sang-Wook; Shim, Jung-Hyun

    2011-01-01

    To describe two cases of thoracic paraplegia due to a thoracic spinal cord tumor (meningioma) that was not detected during lumbar spinal decompressive surgery for lumbar canal stenosis and a complaint of claudication. The follow-up period ranged from 1 year and 6 months to 1 year and 8 months. The neurological deficit due to thoracic meningioma after surgery for lumbar canal stensois was decreased after mass excision. So, careful physical examination and magnetic resonance imaging can reveal another thoracic spine compressive lesion such as meningioma. Additional thoracic decompressive surgery can provide partial amelioration of each patient's neurological condition. Surgeons should know that a silent meningioma can aggrevate neurological symptoms after lower lumbar spine surgery and should inform their patient before surgery. PMID:22164321

  6. Paraplegia due to Missed Thoracic Meningioma after Laminotomy for Lumbar Spinal Stenosis: Report of Two Cases.

    PubMed

    Ko, Sang-Bong; Lee, Sang-Wook; Shim, Jung-Hyun

    2011-12-01

    To describe two cases of thoracic paraplegia due to a thoracic spinal cord tumor (meningioma) that was not detected during lumbar spinal decompressive surgery for lumbar canal stenosis and a complaint of claudication. The follow-up period ranged from 1 year and 6 months to 1 year and 8 months. The neurological deficit due to thoracic meningioma after surgery for lumbar canal stensois was decreased after mass excision. So, careful physical examination and magnetic resonance imaging can reveal another thoracic spine compressive lesion such as meningioma. Additional thoracic decompressive surgery can provide partial amelioration of each patient's neurological condition. Surgeons should know that a silent meningioma can aggrevate neurological symptoms after lower lumbar spine surgery and should inform their patient before surgery.

  7. Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

    PubMed Central

    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

  8. Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.

    PubMed

    Lindig, Tobias; Bender, Benjamin; Hauser, Till-Karsten; Mang, Sarah; Schweikardt, Daniel; Klose, Uwe; Karle, Kathrin N; Schüle, Rebecca; Schöls, Ludger; Rattay, Tim W

    2015-08-01

    Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. We used advanced neuroimaging to identify brain regions involved in SPG4, the most common HSP genotype. Additionally, we analyzed correlations between imaging and clinical findings. We performed 3T MRI scans including isotropic high-resolution 3D T1, T2-FLAIR, and DTI sequences in 15 adult patients with genetically confirmed SPG4 and 15 age- and sex-matched healthy controls. Brain volume loss of gray and white matter was evaluated through voxel-based morphometry (VBM) for supra- and infratentorial regions separately. DTI maps of axial diffusivity (AD), radial diffusivity (RD), mean diffusivity (MD), fractional anisotropy (FA), and measured anisotropy (MA1) were analyzed through tract-based special statistics (TBSS). VBM and TBSS revealed a widespread affection of gray and white matter in SPG4 including the corpus callosum, medio-dorsal thalamus, parieto-occipital regions, upper brainstem, cerebellum, and corticospinal tract. Significant correlations with correlation coefficients r > 0.6 between clinical data and DTI findings could be demonstrated for disease duration and disease severity as assessed by the spastic paraplegia rating scale for the pontine crossing tract (AD) and the corpus callosum (RD and FA). Imaging also provided evidence that SPG4 underlies a primarily axonal rather than demyelinating damage in accordance with post-mortem data. DTI is an attractive tool to assess subclinical affection in SPG4. The correlation of imaging findings with disease duration and severity suggests AD, RD, and FA as potential progression markers in interventional studies.

  9. Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

    PubMed

    Martinuzzi, Andrea; Montanaro, Domenico; Vavla, Marinela; Paparella, Gabriella; Bonanni, Paolo; Musumeci, Olimpia; Brighina, Erika; Hlavata, Hana; Rossi, Giuseppe; Aghakhanyan, Gayane; Martino, Nicola; Baratto, Alessandra; D'Angelo, Maria Grazia; Peruch, Francesca; Fantin, Marianna; Arnoldi, Alessia; Citterio, Andrea; Vantaggiato, Chiara; Rizzo, Vincenzo; Toscano, Antonio; Bresolin, Nereo; Bassi, Maria Teresa

    2016-01-01

    Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system ("pure" forms). The involvement of other components of the central nervous system or of other systems is described in the "complicate" forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis. We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology. Clinically increased deep tendon reflexes and lower limb (LL) weakness are constant findings in all patients. The "complicated" forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI) highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST) DTI consistently discriminated patients from controls. We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel DTI approach may add significant elements in

  10. The Extended Posterior Circumferential Decompression Technique in the Management of Tubercular Spondylitis with and without Paraplegia

    PubMed Central

    Rathinavelu, Barani; Krishnan, Venkatesh; Amritanand, Rohit; Sundararaj, Gabriel David

    2014-01-01

    Study Design Retrospective clinical series. Purpose To study the clinical, functional and radiological results of patients with tuberculous spondylitis with and without paraplegia, treated surgically using the "Extended Posterior Circumferential Decompression (EPCD)" technique. Overview of Literature With the increasing possibility of addressing all three columns by a single approach, posterior and posterolateral approaches are gaining acceptance. A single exposure for cases with neurological deficit and kyphotic deformity requiring circumferential decompression, anterior column reconstruction and posterior instrumentation is helpful. Methods Forty-one patients with dorsal/dorsolumbar/lumbar tubercular spondylitis who were operated using the EPCD approach between 2006 to 2009 were included. Postoperatively, patients were started on nine-month anti-tuberculous treatment. They were serially followed up to thirty-six months and both clinical measures (including pain, neurological status and ambulatory status) and radiological measures (including kyphotic angle correction, loss of correction and healing status) were used for assessment. Results Disease-healing with bony fusion (interbody fusion) was seen in 97.5% of cases. Average deformity (kyphosis) correction was 54.6% in dorsal spine and 207.3% in lumbar spine. Corresponding loss of correction was 3.6 degrees in dorsal spine and 1.9 degrees in the lumbar spine. Neurological recovery in Frankel B and C paraplegia was 85.7% and 62.5%, respectively. Conclusions The EPCD approach permits all the advantages of a single or dual session anterior and posterior surgery, with significant benefits in terms of decreased operative time, reduced hospital stay and better kyphotic angle correction. PMID:25558312

  11. Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.

    PubMed

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

    2014-05-09

    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.

  12. 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

  13. Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

    PubMed Central

    Martinuzzi, Andrea; Montanaro, Domenico; Vavla, Marinela; Paparella, Gabriella; Bonanni, Paolo; Musumeci, Olimpia; Brighina, Erika; Hlavata, Hana; Rossi, Giuseppe; Aghakhanyan, Gayane; Martino, Nicola; Baratto, Alessandra; D’Angelo, Maria Grazia; Peruch, Francesca; Fantin, Marianna; Arnoldi, Alessia; Citterio, Andrea; Vantaggiato, Chiara; Rizzo, Vincenzo; Toscano, Antonio; Bresolin, Nereo; Bassi, Maria Teresa

    2016-01-01

    Background Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system (“pure” forms). The involvement of other components of the central nervous system or of other systems is described in the “complicate” forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis. Methods We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology. Results Clinically increased deep tendon reflexes and lower limb (LL) weakness are constant findings in all patients. The “complicated” forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI) highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST) DTI consistently discriminated patients from controls. Conclusion We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel

  14. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

    PubMed Central

    Gan-Or, Ziv; Bouslam, Naima; Birouk, Nazha; Lissouba, Alexandra; Chambers, Daniel B.; Vérièpe, Julie; Androschuck, Alaura; Laurent, Sandra B.; Rochefort, Daniel; Spiegelman, Dan; Dionne-Laporte, Alexandre; Szuto, Anna; Liao, Meijiang; Figlewicz, Denise A.; Bouhouche, Ahmed; Benomar, Ali; Yahyaoui, Mohamed; Ouazzani, Reda; Yoon, Grace; Dupré, Nicolas; Suchowersky, Oksana; Bolduc, Francois V.; Parker, J. Alex; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.; Bencheikh, Bouchra Ouled Amar

    2016-01-01

    Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed, suggesting that other genetic causes of HSP are still to be identified. HSP can be inherited in an autosomal-dominant, autosomal-recessive, or X-linked manner. In the current study, we performed whole-exome sequencing to analyze a total of nine affected individuals in three families with autosomal-recessive HSP. Rare homozygous and compound-heterozygous nonsense, missense, frameshift, and splice-site mutations in CAPN1 were identified in all affected individuals, and sequencing in additional family members confirmed the segregation of these mutations with the disease (spastic paraplegia 76 [SPG76]). CAPN1 encodes calpain 1, a protease that is widely present in the CNS. Calpain 1 is involved in synaptic plasticity, synaptic restructuring, and axon maturation and maintenance. Three models of calpain 1 deficiency were further studied. In Caenorhabditis elegans, loss of calpain 1 function resulted in neuronal and axonal dysfunction and degeneration. Similarly, loss-of-function of the Drosophila melanogaster ortholog calpain B caused locomotor defects and axonal anomalies. Knockdown of calpain 1a, a CAPN1 ortholog in Danio rerio, resulted in abnormal branchiomotor neuron migration and disorganized acetylated-tubulin axonal networks in the brain. The identification of mutations in CAPN1 in HSP expands our understanding of the disease causes and potential mechanisms. PMID:27153400

  15. Shoulder biomechanics during the push phase of wheelchair propulsion: a multisite study of persons with paraplegia.

    PubMed

    Collinger, Jennifer L; Boninger, Michael L; Koontz, Alicia M; Price, Robert; Sisto, Sue Ann; Tolerico, Michelle L; Cooper, Rory A

    2008-04-01

    To present a descriptive analysis and comparison of shoulder kinetics and kinematics during wheelchair propulsion at multiple speeds (self-selected and steady-state target speeds) for a large group of manual wheelchair users with paraplegia while also investigating the effect of pain and subject demographics on propulsion. Case series. Three biomechanics laboratories at research institutions. Volunteer sample of 61 persons with paraplegia who use a manual wheelchair for mobility. Subjects propelled their own wheelchairs on a dynamometer at 3 speeds (self-selected, 0.9m/s, 1.8m/s) while kinetic and kinematic data were recorded. Differences in demographics between sites, correlations between subject characteristics, comparison of demographics and biomechanics between persons with and without pain, linear regression using subject characteristics to predict shoulder biomechanics, comparison of biomechanics between speed conditions. Significant increases in shoulder joint loading with increased propulsion velocity were observed. Resultant force increased from 54.4+/-13.5N during the 0.9m/s trial to 75.7+/-20.7N at 1.8m/s (P<.001). Body weight was the primary demographic variable that affected shoulder forces, whereas pain did not affect biomechanics. Peak shoulder joint loading occurs when the arm is extended and internally rotated, which may leave the shoulder at risk for injury. Body-weight maintenance, as well as other interventions designed to reduce the force required to propel a wheelchair, should be implemented to reduce the prevalence of shoulder pain and injury among manual wheelchair users.

  16. Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

    PubMed

    Hotchkiss, Leslie; Donkervoort, Sandra; Leach, Meganne E; Mohassel, Payam; Bharucha-Goebel, Diana X; Bradley, Nathaniel; Nguyen, David; Hu, Ying; Gurgel-Giannetti, Juliana; Bönnemann, Carsten G

    2016-08-01

    Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of disorders characterized by lower extremity spasticity and weakness. Recently, the first de novo mutations in KIF1A were identified in patients with an early-onset severe form of complicated hereditary spastic paraplegia. We report two additional patients with novel de novo mutations in KIF1A, hereby expanding the genetic spectrum of KIF1A-related hereditary spastic paraplegia. Both children presented with spastic paraplegia and additional findings of optic nerve atrophy, structural brain abnormalities, peripheral neuropathy, cognitive/language impairment, and never achieved ambulation. In particular, we highlight the progressive nature of cerebellar involvement as captured on sequential magnetic resonance images (MRIs), thus linking the neurodegenerative and spastic paraplegia phenotypes. Exome sequencing in patient 1 and patient 2 identified novel heterozygous missense mutations in KIF1A at c.902G>A (p.R307Q) and c.595G>A (p.G199 R), respectively. Therefore, our report contributes to expanding the genotypic and phenotypic spectrum of hereditary spastic paraplegia caused by mutations in KIF1A.

  17. Twelve Major Concept Categories and Their Rationale.

    ERIC Educational Resources Information Center

    Howlett, George

    Twelve concepts utilized by Project I-C-E (Instruction-Curriculum-Environment) for integrating science, social studies, and language arts with environmental studies are elaborated in this booklet. The rationale for each concept is put forth together with a more detailed explanation of the concept. Topics considered include: energy, ecosystems,…

  18. 33 CFR 279.9 - Objective rationale.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    .... Management actions on existing projects, including leasing and licensing, will also be directed towards the... objective(s) and providing the rationale, impact, and basic management measures for their accomplishment... as a guide for the preparation of detailed development plans and management actions to achieve...

  19. 33 CFR 279.9 - Objective rationale.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    .... Management actions on existing projects, including leasing and licensing, will also be directed towards the... objective(s) and providing the rationale, impact, and basic management measures for their accomplishment... as a guide for the preparation of detailed development plans and management actions to achieve...

  20. 33 CFR 279.9 - Objective rationale.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    .... Management actions on existing projects, including leasing and licensing, will also be directed towards the... objective(s) and providing the rationale, impact, and basic management measures for their accomplishment... as a guide for the preparation of detailed development plans and management actions to achieve...

  1. 33 CFR 279.9 - Objective rationale.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    .... Management actions on existing projects, including leasing and licensing, will also be directed towards the... objective(s) and providing the rationale, impact, and basic management measures for their accomplishment... as a guide for the preparation of detailed development plans and management actions to achieve...

  2. 33 CFR 279.9 - Objective rationale.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    .... Management actions on existing projects, including leasing and licensing, will also be directed towards the... objective(s) and providing the rationale, impact, and basic management measures for their accomplishment... as a guide for the preparation of detailed development plans and management actions to achieve...

  3. Rationale for the Perceptual Analysis Kindergarten Test.

    ERIC Educational Resources Information Center

    Pender, Robert M.

    The Perceptual Analysis Kindergarten Test is based on the rationale or thesis that learning is hierarchical. The test is used to help determine the level of the child in the hierarchy so that a remedial program can be devised to bring the child up to the level where he can develop the associative conceptualization required to be able to learn in…

  4. Rationales for the Lightning Launch Commit Criteria

    NASA Technical Reports Server (NTRS)

    Willett, John C. (Editor); Merceret, Francis J. (Editor); Krider, E. Philip; O'Brien, T. Paul; Dye, James E.; Walterscheid, Richard L.; Stolzenburg, Maribeth; Cummins, Kenneth; Christian, Hugh J.; Madura, John T.

    2016-01-01

    Since natural and triggered lightning are demonstrated hazards to launch vehicles, payloads, and spacecraft, NASA and the Department of Defense (DoD) follow the Lightning Launch Commit Criteria (LLCC) for launches from Federal Ranges. The LLCC were developed to prevent future instances of a rocket intercepting natural lightning or triggering a lightning flash during launch from a Federal Range. NASA and DoD utilize the Lightning Advisory Panel (LAP) to establish and develop robust rationale from which the criteria originate. The rationale document also contains appendices that provide additional scientific background, including detailed descriptions of the theory and observations behind the rationales. The LLCC in whole or part are used across the globe due to the rigor of the documented criteria and associated rationale. The Federal Aviation Administration (FAA) adopted the LLCC in 2006 for commercial space transportation and the criteria were codified in the FAA's Code of Federal Regulations (CFR) for Safety of an Expendable Launch Vehicle (Appendix G to 14 CFR Part 417, (G417)) and renamed Lightning Flight Commit Criteria in G417.

  5. Decision-Making Rationale for Educational Testing.

    ERIC Educational Resources Information Center

    Clifford, Margaret M.

    Decision-making Rationale for Educational Testing (DRET) is a proposal intended to reduce the misuse of achievement tests. It assumes 1) measurement is intended to facilitate decision-making, 2) the choice of an instrument, the identification of examinees and the use of test results is determined by the decision for which the measurement is to be…

  6. An Expanding Rationale for Cooperative Education.

    ERIC Educational Resources Information Center

    Abitia, Fred

    1985-01-01

    The author discusses cooperative education: how it is viewed by private enterprise and where it fits into higher education's framework. The cooperative education program at California Polytechnic State University is examined: faculty responsibility, rationale for the program's existence, and reasons for the program's importance. (CT)

  7. Progressive paraplegia caused by recurrence of mantle-cell lymphoma with atypical spinal magnetic resonance imaging features.

    PubMed

    Yamane, Hiromichi; Ochi, Nobuaki; Yamagishi, Tomoko; Takigawa, Nagio; Maeda, Yoshinobu

    2015-01-01

    We describe a case of paraplegia, which had progressed rapidly in a 60-year-old Japanese man with mantle-cell lymphoma. (MCL). He admitted to our hospital due to lumbago and progressive muscle weakness of bilateral lower thighs lasting for 1. month, while he had the history of the systemic chemotherapy for MCL since 10 months. Magnetic resonance imaging. (MRI) revealed a wide-spreading intradural tumor situated in the spinal canal from L1 to L5 with an intervertebral slipped disk as the only site of recurrence. Laminectomy followed by salvage chemotherapy led disappearance of lumbago and paraplegia of the bilateral lower extremities. Although wide-spreading tumor formation in spinal canal without other involvement sites is very rare in MCL, physicians should be aware of such patterns of central nervous system. (CNS) relapse for the early diagnosis and adequate selection of treatment modality.

  8. Disturbed Mental Imagery of Affected Body-Parts in Patients with Hysterical Conversion Paraplegia Correlates with Pathological Limbic Activity

    PubMed Central

    Saj, Arnaud; Raz, Noa; Levin, Netta; Ben-Hur, Tamir; Arzy, Shahar

    2014-01-01

    Patients with conversion disorder generally suffer from a severe neurological deficit which cannot be attributed to a structural neurological damage. In two patients with acute conversion paraplegia, investigation with functional magnetic resonance imaging (fMRI) showed that the insular cortex, a limbic-related cortex involved in body-representation and subjective emotional experience, was activated not only during attempt to move the paralytic body-parts, but also during mental imagery of their movements. In addition, mental rotation of affected body-parts was found to be disturbed, as compared to unaffected body parts or external objects. fMRI during mental rotation of the paralytic body-part showed an activation of another limbic related region, the anterior cingulate cortex. These data suggest that conversion paraplegia is associated with pathological activity in limbic structures involved in body representation and a deficit in mental processing of the affected body-parts. PMID:24961768

  9. School Choice and Educational Opportunity: Rationales, Outcomes and Racial Disparities

    ERIC Educational Resources Information Center

    Ben-Porath, Sigal

    2012-01-01

    This article examines the rationales for school choice, and the significance of choice mechanisms for racial disparities in educational opportunities and outcomes. It identifies tensions between liberty-based rationales and equality-based rationales, and surveys research findings on the outcomes of school choice policies, especially with regard to…

  10. Perilesional intrathecal administration of autologous bone marrow stromal cells achieves functional improvement in pigs with chronic paraplegia.

    PubMed

    Zurita, Mercedes; Aguayo, Concepcion; Bonilla, Celia; Rodriguez, Alicia; Vaquero, Jesus

    2013-10-01

    At present, on the basis of the great number of preclinical studies and preliminary clinical trials in humans, bone marrow stromal cell (BMSC) transplantation offers promise in the treatment of paraplegia. Nevertheless, there is not enough experience in humans about the best candidates for this type of cell therapy or details about the best parameters or best route of administration. Two adult paraplegic pigs with chronic paraplegia were treated only with perilesional intrathecal administration of 40 × 10(6) autologous BMSC suspended in autologous plasma and followed for 1 year after cell transplantation. Our study showed clinical improvement, starting at 2 mo after BMSC administration and reaching stabilization at 10 mo. This was associated with recovery of previously abolished somatosensory-evoked potentials. At the end of the study, histological images suggested spinal cord regeneration. Our present findings suggest the possible utility of perilesional intrathecal administration of autologous BMSC in patients with chronic paraplegia. Copyright © 2013 International Society for Cellular Therapy. Published by Elsevier Inc. All rights reserved.

  11. Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

    PubMed

    Krenn, M; Zulehner, G; Hotzy, C; Rath, J; Stogmann, E; Wagner, M; Haack, T B; Strom, T M; Zimprich, A; Zimprich, F

    2017-05-01

    Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. All family members included in the study were examined neurologically. Whole-exome sequencing was used in affected individuals to identify the responsible candidate gene. Conventional Sanger sequencing was conducted to validate familial segregation. A family of Macedonian origin with two affected siblings, one with slowly progressive and the other one with a more complex and rapidly progressing hereditary spastic paraplegia is reported. In both affected individuals, two novel pathogenic mutations outside the motor domain of the KIF1A gene were found (NM_001244008.1:c.2909G>A, p.Arg970His and c.1214dup, p.Asn405Lysfs*40) that segregate with the disease within the family establishing the diagnosis of autosomal recessive SPG30. This report provides the first evidence that mutations outside the motor domain of the gene can cause (recessive) SPG30 and extends the genotype-phenotype association for KIF1A-related diseases. © 2017 EAN.

  12. Space Data Network: Concept and rationale

    NASA Astrophysics Data System (ADS)

    Schulz, Klaus-Juergen

    1991-10-01

    An introduction to the concept and rationale of the Space Data Network (SDN) is given. SDN is a conceptual network, which extends from ground via relay satellites to spacecraft. Due to the heterogeneity of the employed network technologies and the needs of spacecraft operation, it provides a serious technological challenge in the fields of interconnection of transmission systems, networks and service management, and uplink data control.

  13. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

    PubMed Central

    Klebe, Stephan; Depienne, Christel; Gerber, Sylvie; Challe, Georges; Anheim, Mathieu; Charles, Perrine; Fedirko, Estelle; Lejeune, Elodie; Cottineau, Julien; Brusco, Alfredo; Dollfus, Hélène; Chinnery, Patrick F.; Mancini, Cecilia; Ferrer, Xavier; Sole, Guilhem; Destée, Alain; Mayer, Jean-Michel; Fontaine, Bertrand; de Seze, Jérôme; Clanet, Michel; Ollagnon, Elisabeth; Busson, Philippe; Cazeneuve, Cécile; Stevanin, Giovanni; Kaplan, Josseline; Rozet, Jean-Michel; Brice, Alexis

    2012-01-01

    Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected on the basis of their phenotype (spasticity of the lower limbs with cerebellar signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) (n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the national reference centre in a diagnostic setting (n = 98); and the index case of a four-generation family with autosomal dominant optic neuropathy but no spasticity linked to the SPG7 locus. We identified two SPG7 mutations in 23/134 spastic patients, 21% of the patients selected according to phenotype but only 8% of those referred directly. Our results confirm the pathogenicity of Ala510Val, which was the most frequent mutation in our series (65%) and segregated at the homozygous state with spastic paraparesis in a large family with autosomal recessive inheritance. All SPG7-positive patients tested had optic neuropathy or abnormalities revealed by optical coherence tomography, indicating that abnormalities in optical coherence tomography could be a clinical biomarker for SPG7 testing. In addition, the presence of late-onset very slowly progressive spastic gait (median age 39 years, range 18–52 years) associated with cerebellar ataxia (39%) or cerebellar atrophy (47%) constitute, with abnormal optical coherence tomography, key features pointing towards SPG7-testing. Interestingly, three relatives of patients with heterozygote SPG7 mutations had cerebellar signs and atrophy, or peripheral neuropathy, but no spasticity of the lower

  14. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

    PubMed

    Klebe, Stephan; Depienne, Christel; Gerber, Sylvie; Challe, Georges; Anheim, Mathieu; Charles, Perrine; Fedirko, Estelle; Lejeune, Elodie; Cottineau, Julien; Brusco, Alfredo; Dollfus, Hélène; Chinnery, Patrick F; Mancini, Cecilia; Ferrer, Xavier; Sole, Guilhem; Destée, Alain; Mayer, Jean-Michel; Fontaine, Bertrand; de Seze, Jérôme; Clanet, Michel; Ollagnon, Elisabeth; Busson, Philippe; Cazeneuve, Cécile; Stevanin, Giovanni; Kaplan, Josseline; Rozet, Jean-Michel; Brice, Alexis; Durr, Alexandra

    2012-10-01

    Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected on the basis of their phenotype (spasticity of the lower limbs with cerebellar signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) (n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the national reference centre in a diagnostic setting (n = 98); and the index case of a four-generation family with autosomal dominant optic neuropathy but no spasticity linked to the SPG7 locus. We identified two SPG7 mutations in 23/134 spastic patients, 21% of the patients selected according to phenotype but only 8% of those referred directly. Our results confirm the pathogenicity of Ala510Val, which was the most frequent mutation in our series (65%) and segregated at the homozygous state with spastic paraparesis in a large family with autosomal recessive inheritance. All SPG7-positive patients tested had optic neuropathy or abnormalities revealed by optical coherence tomography, indicating that abnormalities in optical coherence tomography could be a clinical biomarker for SPG7 testing. In addition, the presence of late-onset very slowly progressive spastic gait (median age 39 years, range 18-52 years) associated with cerebellar ataxia (39%) or cerebellar atrophy (47%) constitute, with abnormal optical coherence tomography, key features pointing towards SPG7-testing. Interestingly, three relatives of patients with heterozygote SPG7 mutations had cerebellar signs and atrophy, or peripheral neuropathy, but no spasticity of the lower

  15. Influence of wheelchair footrest height on ischial tuberosity pressure in individuals with paraplegia.

    PubMed

    Tederko, P; Besowski, T; Jakubiak, K; Łyp, M; Bobecka-Wesołowska, K; Kiwerski, J

    2015-06-01

    To describe the effect of wheelchair footrest height on sitting pressures in persons with paraplegia. Seventeen manual wheelchair users with paraplegia underwent a seat pressure examination while footrests were elevated from the initial position with the thighs parallel to the seat (p0), by 10% (position p10) and by 20% of the fibula length (position p20). We analyzed average pressure (AP), the contact surface of the body with the seat (CS), pressures on the ischial tuberosities-left (LIP) and right (RIP)--and average pressure on both ischial tuberosities (AIP). A gradual increase in footrest elevation was accompanied by significant increases in AP (p0: 57.24±14.31; p10: 60.65±14.85; p20: 62±15.3 mm Hg; Kendall coefficient of concordance W=0.962), AIP (p0: 159.35±54.95; p10: 176.35±53.3; p20: 184.26±54.09 mm Hg; W=0.896), LIP (p0: 165.24±54.05; p10: 183±52.08; p20: 193.18±56.32 mm Hg; W=0.751) and RIP (p0: 153.71±71.23; p10: 167.35±72.19; p20: 175.35±70.84 mm Hg; W=0.524) and a significant decrease in CS (p0: 1218.2±100.8; p10: 1131.8±134.6; p20: 1065±142.6 cm(2); W=0.985). There was a moderate correlation between the relative increase in LIP and RIP between p0 and p10, and between p10 and p20 (Pearson's correlation coefficient for LIP r=0.66; P=0.04, for RIP r=0.77; P=0.003), and a high correlation between relative changes in AIP (r=0.87; P<0.0001). Wheelchair footrest elevation caused a steady rise in AIP; however, left to right side pressure differences changed variably, suggesting that the risk of pressure ulcers may increase disproportionately with footrest elevation.

  16. How "healthy" is circuit resistance training following paraplegia? Kinematic analysis associated with shoulder mechanical impingement risk.

    PubMed

    Riek, Linda M; Ludewig, Paula M; Nawoczenski, Deborah A

    2013-01-01

    The purpose of the study was to determine whether wheelchair-based circuit resistance training (CRT) exercises place the shoulder at risk for mechanical impingement. Using a novel approach, we created a mechanical impingement risk score for each exercise by combining scapular and glenohumeral kinematic and exposure data. In a case series design, 18 individuals (25-76 yr old) with paraplegia and without substantial shoulder pain participated. The mean mechanical impingement risk scores at 45-60 degrees humerothoracic elevation were rank-ordered from lowest to highest risk as per subacromial mechanical impingement risk: overhead press (0.6 +/- 0.5 points), lat pulldown (1.2 +/- 0.5 points), chest press (2.4 +/- 2.8 points), row (2.7 +/- 1.6 points), and rickshaw (3.4 +/- 2.3 points). The mean mechanical impingement risk scores at 105-120 degrees humerothoracic elevation were rank-ordered from lowest to highest risk as per internal mechanical impingement risk: lat pulldown (1.2 +/- 0.5 points) and overhead press (1.3 +/- 0.5 points). In conclusion, mechanical impingement risk scores provided a mechanism to capture risk associated with CRT. The rickshaw had the highest subacromial mechanical risk, whereas the overhead press and lat pulldown had the highest internal mechanical impingement risk. The rickshaw was highlighted as the most concerning exercise because it had the greatest combination of magnitude and exposure corresponding with increased subacromial mechanical impingement risk.

  17. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

    PubMed

    Bettencourt, Conceição; Quintáns, Beatriz; Ros, Raquel; Ampuero, Israel; Yáñez, Zuleima; Pascual, Samuel Ignacio; de Yébenes, Justo García; Sobrido, María-Jesús

    2012-09-01

    Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling. © 2012 Wiley Periodicals, Inc.

  18. Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait

    SciTech Connect

    Dube, M.P.; Kibar, Z.; Rouleau, G.A.

    1997-03-01

    Hereditary spastic paraplegia (HSP) is a degenerative disorder of the motor system, defined by progressive weakness and spasticity of the lower limbs. HSP may be inherited as an autosomal dominant (AD), autosomal recessive, or an X-linked trait. AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q. We have undertaken linkage analysis with 21 uncomplicated AD families to the three AD HSP loci. We report significant linkage for three of our families to the SPG4 locus and exclude several families by multipoint linkage. We used linkage information from several different research teams to evaluate the statistical probability of linkage to the SPG4 locus for uncomplicated AD HSP families and established the critical LOD-score value necessary for confirmation of linkage to the SPG4 locus from Bayesian statistics. In addition, we calculated the empirical P-values for the LOD scores obtained with all families with computer simulation methods. Power to detect significant linkage, as well as type I error probabilities, were evaluated. This combined analytical approach permitted conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity. 19 refs., 1 fig., 1 tab.

  19. Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings

    PubMed Central

    De la Corte-Rodriguez, Hortensia; Alvarez-Roman, M. Teresa; Hernandez-Moreno, Ana L.

    2016-01-01

    We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out. Findings from the tests confirmed the diagnosis of HSP (axonal degeneration of the central motor pathway and pyramidal tracts), further complicated by mixed neuropathy. This disease was also inherited in an autosomal recessive pattern with no direct genetic association with factor VII deficiency. Neurological symptoms had gone unnoticed due to a history of multiple joint haemarthrosis; musculoskeletal examination led to a satisfactory differential diagnosis. Haematological prophylaxis was commenced with rFVIIa at 30 mcg/kg, three days per week. A rehabilitation programme was prescribed so that the patient could remain independent for as long as possible, based on orthosis, physiotherapy, and occupational therapy. Response to treatment is currently satisfactory and no new bleeding has presented. As far as we are aware, the coexistence of these two diseases (factor VII deficiency and HSP) has not been previously reported in the literature. PMID:28018685

  20. Robotic gait training improves motor skills and quality of life in hereditary spastic paraplegia.

    PubMed

    Bertolucci, F; Di Martino, S; Orsucci, D; Ienco, E Caldarazzo; Siciliano, G; Rossi, B; Mancuso, M; Chisari, C

    2015-01-01

    Gait impairment, balance problems and falls have a negative impact on independence in ADL and quality of life of patients affected by Hereditary Spastic Paraplegia (HSP). Since no pharmacological options are available, treatments rely mostly on rehabilitation therapy, although almost no data on this topic exist. Given the demonstrated effectiveness of robotics in improving gait and balance in various neurological diseases, aim of this study is to test the effectiveness of a robotic-aided program of gait training on balance, walking ability and quality of life in adult subjects affected by uncomplicated HSP. Thirteen patients affected by uncomplicated HSP were subjected to a six-week robotic-aided gait training protocol. Participants underwent a battery of 3 walking test, 1 balance test and 2 quality of life questionnaires. At the end of the treatment a significant improvement of balance, walking ability and quality of life was observed in almost all the tests. The improvements were maintained over a two-month follow-up period. Our study indicates that a robotic gait training is long term effective in improving balance and walking ability with a positive impact on quality of life in patients affected by uncomplicated form of HSP. As currently there is no specific treatment to prevent or reverse HSP progression, our contribution would be significant for the development of exercise recommendations in this rare disease.

  1. Towards Parameters and Protocols to Recommend FES-Cycling in Cases of Paraplegia: A Preliminary Report

    PubMed Central

    Guimarães, Juliana Araujo; da Fonseca, Lucas Oliveira; dos Santos-Couto-Paz, Clarissa Cardoso; Bó, Antônio Padilha Lanari; Fattal, Charles; Azevedo-Coste, Christine; Fachin-Martins, Emerson

    2016-01-01

    Functional Electrical Stimulation assisted cycling (FES-Cycling) is increasingly becoming an alternative option recommended to people with spinal cord injury struggling with paraplegia and interested in practicing sports. In order to propose preconditions to guide FES-Cycling recommendation, we aimed to investigate some features and their potential relationships with responsiveness to Neuromuscular Electrical Stimulation (NMES). Fourteen volunteers attended a public recruitment forum to be assessed about their responsiveness through the 16-sessions of NMES. Volunteers were separated in two groups (responsive and non-responsive to NMES) which were investigated in the light of some personal, clinical, structural and functional features. Fifty seven percent of the initial sample responded to electrical stimulation with a visual contraction. This responsive group was predominantly composed by subjects presenting traumatic spinal cord injuries above T12 vertebral level. Only two subjects became responsive at the 3rd and 16th sessions. Among the observed features, the etiology and level of injuries seems to be more associated to responsiveness. Our observations seem to indicate that subjects with traumatic spinal cord injury above T12 level were the best potential candidates for FES-cycling. PMID:27990239

  2. The efficacy of powered orthoses on walking in persons with paraplegia.

    PubMed

    Arazpour, Mokhtar; Hutchins, Stephen William; Ahmadi Bani, Monireh

    2015-04-01

    Powered orthoses are a new generation of assistive devices for people with spinal cord injury, which are designed to induce motion to paralyzed lower limb joints using external power via electric motors or pneumatic or hydraulic actuators. Powered gait orthoses provide activated movement of lower limb joints to limit the forces applied through the upper limb joints and trunk muscles during ambulation due to the need to use an external walking aid, while simultaneously improving the kinetics and kinematics of walking in subjects with spinal cord injury. This article reviews their walking efficacy when used by people with paraplegia. Literature review. A literature search was performed in ISI Web of Knowledge, PubMed, Google Scholar, ScienceDirect, and Scopus databases. Efficacy was demonstrated in producing activated motion of lower limb joints. Powered gait orthoses have a beneficial effect on the kinetics, kinematics, and temporal-spatial parameters of gait, but their effect on muscle activity in individuals with spinal cord injury is still unclear. Further research is needed regarding the design and construction of powered gait orthoses using significant power application to the ankle joints and their effect on lower limb muscle activity and gait patterns in spinal cord injury subjects. Powered orthoses is a new generation of orthotic intervention that could potentially be significant in assisting in improving the walking parameters and energy consumption of spinal cord injury subjects. © The International Society for Prosthetics and Orthotics 2014.

  3. Hereditary Spastic Paraplegia in Greece: Characterisation of a previously unexplored population using next generation sequencing

    PubMed Central

    Lynch, David S; Koutsis, Georgios; Tucci, Arianna; Panas, Marios; Baklou, Markella; Breza, Marianthi; Karadima, Georgia; Houlden, Henry

    2015-01-01

    Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy. HSP occurs worldwide, with different populations having different frequencies of causative genes. The Greek population has not yet been characterised. The purpose of this study was to describe the clinical presentation and molecular epidemiology of the largest cohort of HSP in Greece, comprising 54 patients from 40 families. We used a targeted next generation sequencing (NGS) approach to genetically assess a proband from each family. We made a genetic diagnosis in more than 50 % of cases and identified 11 novel variants. Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, while SPG11 and CYP7B1 were the most common cause of autosomal recessive HSP. We identified a novel variant in SPG11 which led to disease with later onset and may be unique to the Greek population and report the first nonsense mutation in KIF5A. Interestingly, the frequency of HSP mutations in the Greek population, which is relatively isolated, was very similar to other European populations. We confirm that NGS approaches are an efficient diagnostic tool and should be employed early in the assessment of HSP patients. PMID:26374131

  4. Autosomal dominant familial spastic paraplegia; Linkage analysis and evidence for linkage to chromosome 2p

    SciTech Connect

    Figlewicz, D.A.; Dube, M.P.; Rouleau, G.A.

    1994-09-01

    Familial spastic paraplegia (FSP) is a degenerative disorder of the motor system characterized by progressive weakness and spasticity of the lower limbs. Little is known about the pathophysiology of this disorder. FSP can be inherited as an autosomal dominant (AD), autosomal recessive, or X-linked trait. We have undertaken linkage analysis for a group of 36 AD FSP families from which we have collected blood samples from 427 individuals, including 148 affected individuals. Typing of polymorphic markers has allowed us to exclude more than 50% of the genome. Recently, linkage for AD FSP to a locus on chromosome 14q was reported. Our AD FSP kindreds were tested for linkage to markers spanning the 20 cM region between D14S69 and D14S66; however, we were not able to establish linkage for any of our families to chromosome 14. Lod scores suggestive of linkage for some AD FSP kindreds have been obtained for markers on chromosome 2p. We have tested seven polymorphic markers spanning the region between D2S405 and D2S177. Our highest aggregate lod score, including all families tested, was obtained at the locus D2S352: 2.4 at 20 cM. Results from HOMOG analysis for linkage heterogeneity will be reported.

  5. Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

    PubMed

    Dubé, M P; Mlodzienski, M A; Kibar, Z; Farlow, M R; Ebers, G; Harper, P; Kolodny, E H; Rouleau, G A; Figlewicz, D A

    1997-03-01

    Hereditary spastic paraplegia (HSP) is a degenerative disorder of the motor system, defined by progressive weakness and spasticity of the lower limbs. HSP may be inherited as an autosomal dominant (AD), autosomal recessive, or an X-linked trait. AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q. We have undertaken linkage analysis with 21 uncomplicated AD families to the three AD HSP loci. We report significant linkage for three of our families to the SPG4 locus and exclude several families by multipoint linkage. We used linkage information from several different research teams to evaluate the statistical probability of linkage to the SPG4 locus for uncomplicated AD HSP families and established the critical LOD-score value necessary for confirmation of linkage to the SPG4 locus from Bayesian statistics. In addition, we calculated the empirical P-values for the LOD scores obtained with all families with computer simulation methods. Power to detect significant linkage, as well as type I error probabilities, were evaluated. This combined analytical approach permitted conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity.

  6. Severe adhesive arachnoiditis resulting in progressive paraplegia following obstetric spinal anaesthesia: a case report and review.

    PubMed

    Killeen, T; Kamat, A; Walsh, D; Parker, A; Aliashkevich, A

    2012-12-01

    A 27-year-old woman developed severe adhesive arachnoiditis after an obstetric spinal anaesthetic with bupivacaine and fentanyl, complicated by back pain and headache. No other precipitating cause could be identified. She presented one week postpartum with communicating hydrocephalus and syringomyelia and underwent ventriculoperitoneal shunting and foramen magnum decompression. Two months later, she developed rapid, progressive paraplegia and sphincter dysfunction. Attempted treatments included exploratory laminectomy, external drainage of the syrinx and intravenous steroids, but these were unsuccessful and the patient remains significantly disabled 21 months later. We discuss the pathophysiology of adhesive arachnoiditis following central neuraxial anaesthesia and possible causative factors, including contamination of the injectate, intrathecal blood and local anaesthetic neurotoxicity, with reference to other published cases. In the absence of more conclusive data, practitioners of central neuraxial anaesthesia can only continue to ensure meticulous, aseptic, atraumatic technique and avoid all potential sources of contamination. It seems appropriate to discuss with patients the possibility of delayed, permanent neurological deficit while taking informed consent.

  7. Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

    PubMed Central

    Hirst, Jennifer; Borner, Georg H. H.; Edgar, James; Hein, Marco Y.; Mann, Matthias; Buchholz, Frank; Antrobus, Robin; Robinson, Margaret S.

    2013-01-01

    The AP-5 complex is a recently identified but evolutionarily ancient member of the family of heterotetrameric adaptor proteins (AP complexes). It is associated with two proteins that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15. Here we show that the four AP-5 subunits can be coimmunoprecipitated with SPG11 and SPG15, both from cytosol and from detergent-extracted membranes, with a stoichiometry of ∼1:1:1:1:1:1. Knockdowns of SPG11 or SPG15 phenocopy knockdowns of AP-5 subunits: all six knockdowns cause the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes. In addition, AP-5, SPG11, and SPG15 colocalize on a late endosomal/lysosomal compartment. Both SPG11 and SPG15 have predicted secondary structures containing α-solenoids related to those of clathrin heavy chain and COPI subunits. SPG11 also has an N-terminal, β-propeller–like domain, which interacts in vitro with AP-5. We propose that AP-5, SPG15, and SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating the docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold. PMID:23825025

  8. A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport

    PubMed Central

    2010-01-01

    Background Hereditary spastic paraplegias are a group of neurological disorders characterized by progressive distal degeneration of the longest ascending and descending axons in the spinal cord, leading to lower limb spasticity and weakness. One of the dominantly inherited forms of this disease (spastic gait type 10, or SPG10) is caused by point mutations in kinesin-1A (also known as KIF5A), which is thought to be an anterograde motor for neurofilaments. Results We investigated the effect of an SPG10 mutation in kinesin-1A (N256S-kinesin-1A) on neurofilament transport in cultured mouse cortical neurons using live-cell fluorescent imaging. N256S-kinesin-1A decreased both anterograde and retrograde neurofilament transport flux by decreasing the frequency of anterograde and retrograde movements. Anterograde velocity was not affected, whereas retrograde velocity actually increased. Conclusions These data reveal subtle complexities to the functional interdependence of the anterograde and retrograde neurofilament motors and they also raise the possibility that anterograde and retrograde neurofilament transport may be disrupted in patients with SPG10. PMID:21087519

  9. PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

    PubMed Central

    Tse, Zero Ho-Man; Kung, Michelle Hiu-Wai; Sham, Pak-Chung; Ho, Shu-Leong

    2014-01-01

    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. In this study, we identified 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 using whole-exome sequencing and confirmed with Sanger sequencing. This mutation co-segregated with the phenotype in the six family members studied and is predicted to be pathogenic when multiple deleteriousness predictions were combined. This novel R268Q mutation was not present in over 7,000 subjects in public databases, and over 1,000 Han Chinese in our database. Prediction of potential functional consequence of R268Q mutation on PMCA4 by computational modeling revealed that this mutation is located in protein aggregation-prone segment susceptible to protein misfolding. Analysis for thermodynamic protein stability indicated that this mutation destabilizes the PMCA4 protein structure with higher folding free energy. As PMCA4 functions to maintain neuronal calcium homeostasis, our result showed that calcium dysregulation may be associated with the pathogenesis of FSP. PMID:25119969

  10. PMCA4 (ATP2B4) mutation in familial spastic paraplegia.

    PubMed

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

    2014-01-01

    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. In this study, we identified 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 using whole-exome sequencing and confirmed with Sanger sequencing. This mutation co-segregated with the phenotype in the six family members studied and is predicted to be pathogenic when multiple deleteriousness predictions were combined. This novel R268Q mutation was not present in over 7,000 subjects in public databases, and over 1,000 Han Chinese in our database. Prediction of potential functional consequence of R268Q mutation on PMCA4 by computational modeling revealed that this mutation is located in protein aggregation-prone segment susceptible to protein misfolding. Analysis for thermodynamic protein stability indicated that this mutation destabilizes the PMCA4 protein structure with higher folding free energy. As PMCA4 functions to maintain neuronal calcium homeostasis, our result showed that calcium dysregulation may be associated with the pathogenesis of FSP.

  11. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

    PubMed Central

    Pirozzi, Marinella; Quattrini, Angelo; Andolfi, Gennaro; Dina, Giorgia; Malaguti, Maria Chiara; Auricchio, Alberto; Rugarli, Elena I.

    2006-01-01

    Degeneration of peripheral motor axons is a common feature of several debilitating diseases including complicated forms of hereditary spastic paraplegia. One such form is caused by loss of the mitochondrial energy-dependent protease paraplegin. Paraplegin-deficient mice display a progressive degeneration in several axonal tracts, characterized by the accumulation of morphological abnormal mitochondria. We show that adenoassociated virus–mediated (AAV-mediated) intramuscular delivery of paraplegin halted the progression of neuropathological changes and rescued mitochondrial morphology in the peripheral nerves of paraplegin-deficient mice. One single injection before onset of symptoms improved the motor performance of paraplegin-deficient mice for up to 10 months, indicating that the peripheral neuropathy contributes to the clinical phenotype. This study provides a proof of principle that gene transfer may be an effective therapeutic option for patients with paraplegin deficiency and demonstrates that AAV vectors can be successfully employed for retrograde delivery of an intracellular protein to spinal motor neurons, opening new perspectives for several hereditary axonal neuropathies of the peripheral nerves. PMID:16357941

  12. Blood lactate and ventilatory thresholds in wheelchair athletes with tetraplegia and paraplegia.

    PubMed

    Leicht, C A; Griggs, K E; Lavin, J; Tolfrey, K; Goosey-Tolfrey, V L

    2014-08-01

    The purpose of this study was to analyse the influence of spinal cord injury level on blood lactate (BLa) and ventilatory thresholds. Ten athletes with tetraplegia (TETRA) and nine athletes with paraplegia (PARA) performed a graded wheelchair propulsion treadmill exercise step test to exhaustion. The aerobic and anaerobic BLa thresholds, the ventilatory threshold and the respiratory compensation point (RCP) were determined. The BLa thresholds were determined in 34 of 38 cases, ventilatory thresholds and RCPs in 31 of 38 cases. The anaerobic BLa threshold (76 ± 7 % [Formula: see text]) and the RCP (77 ± 8 % [Formula: see text]) did not differ significantly from each other (P = 0.92), with a coefficient of variation of 4.8 ± 3.4 % between thresholds. All other thresholds differed significantly from each other (P < 0.05). Thresholds expressed as the percentage of peak oxygen uptake did not differ between TETRA and PARA (P > 0.05) despite altered breathing in TETRA, which included a higher ventilatory equivalent for oxygen and a lower tidal volume. Measuring BLa leads to a higher threshold determination rate compared with ventilatory data and the anaerobic BLa threshold can be used to predict the RCP. The altered breathing in TETRA does not seem to have a pronounced effect on the ventilatory threshold or the RCP.

  13. Total knee arthroplasty in patient with paraplegia after spinal cord injury.

    PubMed

    Zietek, P; Dobiecki, K

    2015-01-01

    The clinical management of paraplegic patients is more complex than in able-bodied subjects. Spinal cord injury (SCI) affects younger, active people more often than the elderly during high-energy fall or traffic accidents. In order to return to work after suffering an SCI, patients need to regain their functional independence, especially their ability to drive. The literature lacks strong evidence addressing the surgical solutions in severe knee arthrosis in paralyzed patients after SCI. We present a favourable outcome of total knee arthroplasty (TKA) of a stiff knee in extension in a man with T12 grade C paraplegia after SCI. We describe an effective rehabilitation protocol after knee arthroplasty in patient with damage to the spinal cord. Several factors should be taken into account before performing surgery: 1. ability of regaining some of spinal cord locomotor function through intensive gait rehabilitation in SCI patients, 2. presence of muscle imbalance and knee contractures combined with a risk of bone fracture resulting from intensive postoperative rehabilitation, 3. the impaired microvasculature of the skin and subcutaneous tissues and increased risk of occlusion occurrence of the capillaries and small vessels of the leg, 4. higher prevalence of secondary infections via urinary entry sites in patients after SCI, 5. patient's strong determination and willingness to undergo the arthroplasty procedure. TKA might be considered in selected paralyzed patients after SCI, especially in those with severe arthrosis as well as significant knee contractures. Our study reveals the advantage of performing TKA in improving functional state in patients with cord injury.

  14. Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms

    PubMed Central

    Julien, Carl; Lissouba, Alexandra; Madabattula, Surya; Fardghassemi, Yasmin; Rosenfelt, Cory; Androschuk, Alaura; Strautman, Joel; Wong, Clement; Bysice, Andrew; O'sullivan, Julia; Rouleau, Guy A.; Drapeau, Pierre; Parker, J. Alex; Bolduc, François V.

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases causing progressive gait dysfunction. Over 50 genes have now been associated with HSP. Despite the recent explosion in genetic knowledge, HSP remains without pharmacological treatment. Loss-of-function mutation of the SPAST gene, also known as SPG4, is the most common cause of HSP in patients. SPAST is conserved across animal species and regulates microtubule dynamics. Recent studies have shown that it also modulates endoplasmic reticulum (ER) stress. Here, utilizing null SPAST homologues in C. elegans, Drosophila and zebrafish, we tested FDA-approved compounds known to modulate ER stress in order to ameliorate locomotor phenotypes associated with HSP. We found that locomotor defects found in all of our spastin models could be partially rescued by phenazine, methylene blue, N-acetyl-cysteine, guanabenz and salubrinal. In addition, we show that established biomarkers of ER stress levels correlated with improved locomotor activity upon treatment across model organisms. Our results provide insights into biomarkers and novel therapeutic avenues for HSP. PMID:26744324

  15. Determining metabolic equivalent values of physical activities for persons with paraplegia.

    PubMed

    Lee, Miyoung; Zhu, Weimo; Hedrick, Brad; Fernhall, Bo

    2010-01-01

    The compendium of physical activity (CPA) may not be appropriate for persons with paraplegia (PP) because of their possible low resting metabolic rate (RMR), or 1 MET, and a lack of physical activities (PAs) engaged by PP in the CPA. A CPA supplement, therefore, is needed. The purpose of this study was to examine the feasibility of constructing a short supplement for PP with two specific aims: to determine whether PP need an alternative 1-MET value and if selected PA can be classified into corresponding categories based on their 'engagement' and 'energy expenditure (EE)' characteristics. Thirty-one PP (161.26 cm +/- 22.99 cm, 60.52 kg +/- 15.32 kg, and 24.16 +/- 6.25 years) were recruited. RMR and 10 PA with different intensities were measured using indirect calorimetry. The z- and t-tests were employed to examine MET difference between the measured values and those of CPA (alpha = 0.05). One-MET for PP (3.1 mL/kg/min) was lower than that of the CPA (3.5 mL/kg/min). Although some MET values were found to be similar to those in the CPA, others were statistically significantly different. To be able to measure PA-related EE of a disability subpopulation using the CPA accurately, a supplement that accounts for the impact of different types of activities and the EE characteristics of the subpopulation must be developed.

  16. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

    PubMed Central

    Tesson, Christelle; Nawara, Magdalena; Salih, Mustafa A.M.; Rossignol, Rodrigue; Zaki, Maha S.; Al Balwi, Mohammed; Schule, Rebecca; Mignot, Cyril; Obre, Emilie; Bouhouche, Ahmed; Santorelli, Filippo M.; Durand, Christelle M.; Oteyza, Andrés Caballero; El-Hachimi, Khalid H.; Al Drees, Abdulmajeed; Bouslam, Naima; Lamari, Foudil; Elmalik, Salah A.; Kabiraj, Mohammad M.; Seidahmed, Mohammed Z.; Esteves, Typhaine; Gaussen, Marion; Monin, Marie-Lorraine; Gyapay, Gabor; Lechner, Doris; Gonzalez, Michael; Depienne, Christel; Mochel, Fanny; Lavie, Julie; Schols, Ludger; Lacombe, Didier; Yahyaoui, Mohamed; Al Abdulkareem, Ibrahim; Zuchner, Stephan; Yamashita, Atsushi; Benomar, Ali; Goizet, Cyril; Durr, Alexandra; Gleeson, Joseph G.; Darios, Frederic; Brice, Alexis; Stevanin, Giovanni

    2012-01-01

    Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal tract. At least 48 loci accounting for these diseases have been mapped to date, and mutations have been identified in 22 genes, most of which play a role in intracellular trafficking. Here, we identified mutations in two functionally related genes (DDHD1 and CYP2U1) in individuals with autosomal-recessive forms of HSP by using either the classical positional cloning or a combination of whole-genome linkage mapping and next-generation sequencing. Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia. These genes code for two enzymes involved in fatty-acid metabolism, and we have demonstrated in human cells that the HSP pathophysiology includes alteration of mitochondrial architecture and bioenergetics with increased oxidative stress. Our combined results focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function. PMID:23176821

  17. Complete prewetting

    NASA Astrophysics Data System (ADS)

    Yatsyshin, P.; Parry, A. O.; Kalliadasis, S.

    2016-07-01

    We study continuous interfacial transitions, analagous to two-dimensional complete wetting, associated with the first-order prewetting line, which can occur on steps, patterned walls, grooves and wedges, and which are sensitive to both the range of the intermolecular forces and interfacial fluctuation effects. These transitions compete with wetting, filling and condensation producing very rich phase diagrams even for relatively simple prototypical geometries. Using microscopic classical density functional theory to model systems with realistic Lennard-Jones fluid-fluid and fluid-substrate intermolecular potentials, we compute mean-field fluid density profiles, adsorption isotherms and phase diagrams for a variety of confining geometries.

  18. Illuminating Rationale and Uses for Light Therapy

    PubMed Central

    Shirani, Afshin; St. Louis, Erik K.

    2009-01-01

    Light therapy is increasingly applied in a variety of sleep medicine and psychiatric conditions including circadian rhythm sleep disorders, seasonal affective disorder, and dementia. This article reviews the neural underpinnings of circadian neurobiology crucial for understanding the influence of light therapy on brain function, common mood and sleep disorders in which light therapy may be effectively used, and applications of light therapy in clinical practice. Citation: Shirani A; St. Louis EK. Illuminating rationale and uses for light therapy. J Clin Sleep Med 2009;5(2):155-163. PMID:19968050

  19. Pilot Aircraft Interface Objectives/Rationale

    NASA Technical Reports Server (NTRS)

    Shively, Jay

    2010-01-01

    Objective: Database and proof of concept for guidelines for GCS compliance a) Rationale: 1) Provide research test-bed to develop guidelines. 2) Modify GCS for NAS Compliance to provide proof of concept. b) Approach: 1) Assess current state of GCS technology. 2) Information Requirements Definition. 3) SME Workshop. 4) Modify an Existing GCS for NAS Compliance. 5) Define exemplar UAS (choose system to develop prototype). 6) Define Candidate Displays & Controls. 7) Evaluate/ refine in Simulations. 8) Demonstrate in flight. c) Deliverables: 1) Information Requirements Report. 2) Workshop Proceedings. 3) Technical Reports/ papers on Simulations & Flight Demo. 4) Database for guidelines.

  20. Description and Rationale for the Planning, Monitoring, and Implementation (PMI) Model: Rationale.

    ERIC Educational Resources Information Center

    Cort, H. Russell

    The rationale for the Planning, Monitoring, and Implementation Model (PMI) is the subject of this paper. The Superintendent of the District of Columbia Public Schools requested a model for systematic evaluation of educational programs to determine their effectiveness. The school system's emphasis on objective-referenced instruction and testing,…

  1. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

    PubMed Central

    Varga, Rita-Eva; Khundadze, Mukhran; Damme, Markus; Nietzsche, Sandor; Hoffmann, Birgit; Stauber, Tobias; Koch, Nicole; Hennings, J. Christopher; Franzka, Patricia; Huebner, Antje K.; Kessels, Michael M.; Biskup, Christoph; Jentsch, Thomas J.; Qualmann, Britta; Braulke, Thomas; Kurth, Ingo; Beetz, Christian; Hübner, Christian A.

    2015-01-01

    Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutations in SPG11. A recent in vitro study suggested that Spatacsin, the respective gene product, is needed for the recycling of lysosomes from autolysosomes, a process known as autophagic lysosome reformation. The relevance of this observation for hereditary spastic paraplegia, however, has remained unclear. Here, we report that disruption of Spatacsin in mice indeed causes hereditary spastic paraplegia-like phenotypes with loss of cortical neurons and Purkinje cells. Degenerating neurons accumulate autofluorescent material, which stains for the lysosomal protein Lamp1 and for p62, a marker of substrate destined to be degraded by autophagy, and hence appears to be related to autolysosomes. Supporting a more generalized defect of autophagy, levels of lipidated LC3 are increased in Spatacsin knockout mouse embryonic fibrobasts (MEFs). Though distinct parameters of lysosomal function like processing of cathepsin D and lysosomal pH are preserved, lysosome numbers are reduced in knockout MEFs and the recovery of lysosomes during sustained starvation impaired consistent with a defect of autophagic lysosome reformation. Because lysosomes are reduced in cortical neurons and Purkinje cells in vivo, we propose that the decreased number of lysosomes available for fusion with autophagosomes impairs autolysosomal clearance, results in the accumulation of undegraded material and finally causes death of particularly sensitive neurons like cortical motoneurons and Purkinje cells in knockout mice. PMID:26284655

  2. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

    PubMed

    Varga, Rita-Eva; Khundadze, Mukhran; Damme, Markus; Nietzsche, Sandor; Hoffmann, Birgit; Stauber, Tobias; Koch, Nicole; Hennings, J Christopher; Franzka, Patricia; Huebner, Antje K; Kessels, Michael M; Biskup, Christoph; Jentsch, Thomas J; Qualmann, Britta; Braulke, Thomas; Kurth, Ingo; Beetz, Christian; Hübner, Christian A

    2015-08-01

    Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutations in SPG11. A recent in vitro study suggested that Spatacsin, the respective gene product, is needed for the recycling of lysosomes from autolysosomes, a process known as autophagic lysosome reformation. The relevance of this observation for hereditary spastic paraplegia, however, has remained unclear. Here, we report that disruption of Spatacsin in mice indeed causes hereditary spastic paraplegia-like phenotypes with loss of cortical neurons and Purkinje cells. Degenerating neurons accumulate autofluorescent material, which stains for the lysosomal protein Lamp1 and for p62, a marker of substrate destined to be degraded by autophagy, and hence appears to be related to autolysosomes. Supporting a more generalized defect of autophagy, levels of lipidated LC3 are increased in Spatacsin knockout mouse embryonic fibrobasts (MEFs). Though distinct parameters of lysosomal function like processing of cathepsin D and lysosomal pH are preserved, lysosome numbers are reduced in knockout MEFs and the recovery of lysosomes during sustained starvation impaired consistent with a defect of autophagic lysosome reformation. Because lysosomes are reduced in cortical neurons and Purkinje cells in vivo, we propose that the decreased number of lysosomes available for fusion with autophagosomes impairs autolysosomal clearance, results in the accumulation of undegraded material and finally causes death of particularly sensitive neurons like cortical motoneurons and Purkinje cells in knockout mice.

  3. Short-term effects of upper extremity circuit resistance training on muscle strength and functional independence in patients with paraplegia.

    PubMed

    Yildirim, Adem; Sürücü, Gülseren Dost; Karamercan, Ayşe; Gedik, Dilay Eken; Atci, Nermin; Dülgeroǧlu, Deniz; Özgirgin, Neşe

    2016-11-21

    A number of exercises to strengthen the upper extremities are recommended to increase functional independence and quality of life (QoL) in patients with paraplegia. Circuit resistance training (CRT) is a type of progressive resistive exercise performed repeatedly at fixed mechanical exercise stations. The aim of this study was to investigate the potential benefits of CRT for upper extremity muscle strength, functional independence, and QoL in patients with paraplegia. Twenty-six patients with paraplegia who were participating in a conventional rehabilitation program at a tertiary education and research hospital were enrolled in this study. The participants were randomly assigned to two groups. The exercise group participated in the CRT program, which consisted of repetitive exercises for the upper extremities performed at fixed mechanical stations 5 sessions per week for 6 weeks, in addition to conventional rehabilitation. Participants in the control group received only conventional rehabilitation over the same period. We compared the groups with respect to QoL, as well as isokinetic muscle test outcomes in the upper extremities, using the Functional Independence Measure (FIM) and Borg's scale. We observed significant increases in scores on the physical component of the FIM, Borg's scale, and QoL in both the exercise and control groups. Furthermore, the large majority of isokinetic values were significantly more improved in the exercise group compared to the control group. When post-treatment outcomes were compared between the groups, improvements in scores on the physical component of the FIM and in most isokinetic values were significantly greater in the exercise group. This study showed that CRT has positive effects on muscle strength in the upper extremities and the physical disability components of the FIM when added to conventional rehabilitation programs for paraplegic patients. However, we observed no significant improvement in QoL scores after adding CRT

  4. Elevated Levels of Protein Disulfide Isomerase and Binding Immunoglobulin Protein Implicated in Spinal Cord Injury Paraplegia Patients with Pressure Ulcers.

    PubMed

    Chen, Weiyan; Liu, Jing; Zhao, Liang; Wang, Cuijiang; Li, Zengjun; Liu, Ting

    2016-07-01

    To explore the associations between two endoplasmic reticulum (ER) stress proteins, protein disulfide isomerase (PDI), binding immunoglobulin protein (BIP), and the development and progression of pressure ulcers (PUs) in spinal cord injury (SCI) paraplegia patients. ELISA kits were used to measure the levels of serum PDI and BIP in 67 SCI paraplegia patients with PUs and 61 SCI paraplegia patients without PUs. The associations between PDI and BIP, PU formation, PU staging, and pressure ulcer scale for healing (PUSH) score were analyzed. The patients in the PU group had higher levels of PDI and BIP than those in the non-PU group (both p < 0.05). Furthermore, the levels of PDI were positively correlated with those of BIP (r = 0.707, p < 0.0001). There were significant differences in the PDI and BIP levels among the different stages of PU (all p < 0.05). As the PU stages progressed, the levels of PDI and BIP first increased, then decreased, and finally peaked at stage III of the PUs. The PUSH scores significantly declined 7 days after debridement for the PU stage II (p < 0.01) but showed no significant difference between stages III and IV at 7 days after debridement (p > 0.05). The PUSH scores also decreased at 28 days after debridement for stages II, III, and IV (all p < 0.01). Higher PUSH scores indicated a longer time of debridement accompanied by a longer wound surface healing time (p < 0.05). ER stress proteins may be involved in the process of PU formation and healing; moreover, the levels of PDI and BIP were also associated with the severity of the PUs. Finally, we found that the PUSH scores can be used as a reference to evaluate PU severity and healing.

  5. Comparison of 24-hour cardiovascular and autonomic function in paraplegia, tetraplegia, and control groups: implications for cardiovascular risk.

    PubMed

    Rosado-Rivera, Dwindally; Radulovic, M; Handrakis, John P; Cirnigliaro, Christopher M; Jensen, A Marley; Kirshblum, Steve; Bauman, William A; Wecht, Jill Maria

    2011-01-01

    Fluctuations in 24-hour cardiovascular hemodynamics, specifically heart rate (HR) and blood pressure (BP), are thought to reflect autonomic nervous system (ANS) activity. Persons with spinal cord injury (SCI) represent a model of ANS dysfunction, which may affect 24-hour hemodynamics and predispose these individuals to increased cardiovascular disease risk. To determine 24-hour cardiovascular and ANS function among individuals with tetraplegia (n=20; TETRA: C4-C8), high paraplegia (n=10; HP: T2-T5), low paraplegia (n=9; LP: T7-T12), and non-SCI controls (n=10). Twenty-four-hour ANS function was assessed by time domain parameters of heart rate variability (HRV); the standard deviation of the 5-minute average R-R intervals (SDANN; milliseconds/ms), and the root-mean square of the standard deviation of the R-R intervals (rMSSD; ms). Subjects wore 24-hour ambulatory monitors to record HR, HRV, and BP. Mixed analysis of variance (ANOVA) revealed significantly lower 24-hour BP in the tetraplegic group; however, BP did not differ between the HP, LP, and control groups. Mixed ANOVA suggested significantly elevated 24-hour HR in the HP and LP groups compared to the TETRA and control groups (P<0.05); daytime HR was higher in both paraplegic groups compared to the TETRA and control groups (P<0.01) and nighttime HR was significantly elevated in the LP group compared to the TETRA and control groups (P<0.01). Twenty-four-hour SDANN was significantly increased in the HP group compared to the LP and TETRA groups (P<0.05) and rMSSD was significantly lower in the LP compared to the other three groups (P<0.05). Elevated 24-hour HR in persons with paraplegia, in concert with altered HRV dynamics, may impart significant adverse cardiovascular consequences, which are currently unappreciated.

  6. Rationale and Roadmap for Moon Exploration

    NASA Astrophysics Data System (ADS)

    Foing, B. H.; ILEWG Team

    We discuss the different rationale for Moon exploration. This starts with areas of scientific investigations: clues on the formation and evolution of rocky planets, accretion and bombardment in the inner solar system, comparative planetology processes (tectonic, volcanic, impact cratering, volatile delivery), records astrobiology, survival of organics; past, present and future life. The rationale includes also the advancement of instrumentation: Remote sensing miniaturised instruments; Surface geophysical and geochemistry package; Instrument deployment and robotic arm, nano-rover, sampling, drilling; Sample finder and collector. There are technologies in robotic and human exploration that are a drive for the creativity and economical competitivity of our industries: Mecha-electronics-sensors; Tele control, telepresence, virtual reality; Regional mobility rover; Autonomy and Navigation; Artificially intelligent robots, Complex systems, Man-Machine interface and performances. Moon-Mars Exploration can inspire solutions to global Earth sustained development: In-Situ Utilisation of resources; Establishment of permanent robotic infrastructures, Environmental protection aspects; Life sciences laboratories; Support to human exploration. We also report on the IAA Cosmic Study on Next Steps In Exploring Deep Space, and ongoing IAA Cosmic Studies, ILEWG/IMEWG ongoing activities, and we finally discuss possible roadmaps for robotic and human exploration, starting with the Moon-Mars missions for the coming decade, and building effectively on joint technology developments.

  7. The feasibility of a brain-computer interface functional electrical stimulation system for the restoration of overground walking after paraplegia.

    PubMed

    King, Christine E; Wang, Po T; McCrimmon, Colin M; Chou, Cathy C Y; Do, An H; Nenadic, Zoran

    2015-09-24

    Direct brain control of overground walking in those with paraplegia due to spinal cord injury (SCI) has not been achieved. Invasive brain-computer interfaces (BCIs) may provide a permanent solution to this problem by directly linking the brain to lower extremity prostheses. To justify the pursuit of such invasive systems, the feasibility of BCI controlled overground walking should first be established in a noninvasive manner. To accomplish this goal, we developed an electroencephalogram (EEG)-based BCI to control a functional electrical stimulation (FES) system for overground walking and assessed its performance in an individual with paraplegia due to SCI. An individual with SCI (T6 AIS B) was recruited for the study and was trained to operate an EEG-based BCI system using an attempted walking/idling control strategy. He also underwent muscle reconditioning to facilitate standing and overground walking with a commercial FES system. Subsequently, the BCI and FES systems were integrated and the participant engaged in several real-time walking tests using the BCI-FES system. This was done in both a suspended, off-the-ground condition, and an overground walking condition. BCI states, gyroscope, laser distance meter, and video recording data were used to assess the BCI performance. During the course of 19 weeks, the participant performed 30 real-time, BCI-FES controlled overground walking tests, and demonstrated the ability to purposefully operate the BCI-FES system by following verbal cues. Based on the comparison between the ground truth and decoded BCI states, he achieved information transfer rates >3 bit/s and correlations >0.9. No adverse events directly related to the study were observed. This proof-of-concept study demonstrates for the first time that restoring brain-controlled overground walking after paraplegia due to SCI is feasible. Further studies are warranted to establish the generalizability of these results in a population of individuals with paraplegia

  8. Thoracic paraplegia due to missed thoracic compressive lesions after lumbar spinal decompression surgery. Report of three cases.

    PubMed

    Takeuchi, Akihiko; Miyamoto, Kei; Hosoe, Hideo; Shimizu, Katsuji

    2004-01-01

    The authors discuss the cases of three patients in whom thoracic paraplegia developed after lumbar spinal decompressive surgery for slight lumbar spinal canal stenosis. Careful computerized tomography myelography and magnetic resonance imaging examination of the thoracic spine revealed another compressive lesion (spinal cord tumor, disc herniation, osteophyte of vertebral body, and ossification of the ligamentum flavum). Additional thoracic decompressive surgery provided partial amelioration of each patient's neurological condition. The authors suggest that to avoid such a complication physical and radiographic examination of the thoracic spine should be performed preoperatively if the lumbar imaging is inconclusive.

  9. Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

    PubMed Central

    Svenson, Ingrid K.; Ashley-Koch, Allison E.; Gaskell, P. Craig; Riney, Travis J.; Cumming, W. J. Ken; Kingston, Helen M.; Hogan, Edward L.; Boustany, Rose-Mary N.; Vance, Jeffery M.; Nance, Martha A.; Pericak-Vance, Margaret A.; Marchuk, Douglas A.

    2001-01-01

    Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases. We have screened the spastin gene for mutations in 15 families consistent with linkage to the spastin gene locus, SPG4, and have identified 11 mutations, 10 of which are novel. Five of the mutations identified are in noninvariant splice-junction sequences. Reverse transcription–PCR analysis of mRNA from patients shows that each of these five mutations results in aberrant splicing. One mutation was found to be “leaky,” or partially penetrant; that is, the mutant allele produced both mutant (skipped exon) and wild-type (full-length) transcripts. This phenomenon was reproduced in in vitro splicing experiments, with a minigene splicing-vector construct only in the context of the endogenous splice junctions flanking the splice junctions of the skipped exon. In the absence of endogenous splice junctions, only mutant transcript was detected. The existence of at least one leaky mutation suggests that relatively small differences in the level of wild-type spastin expression can have significant functional consequences. This may account, at least in part, for the wide ranges in age at onset, symptom severity, and rate of symptom progression that have been reported to occur both among and within families with SPG linked to SPG4. In addition, these results suggest caution in the interpretation of data solely obtained with minigene constructs to study the effects of sequence variation on splicing. The lack of full genomic sequence context in these constructs can mask important functional consequences of the mutation. PMID:11309678

  10. 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

  11. Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q

    SciTech Connect

    Fink, J.K.; Wu, C.T.B.; Jones, S.M.

    1994-09-01

    Familial spastic paraplegia (FSP) (MIM No.18260) constitutes a clinically and genetically diverse group of disorders that share the primary feature of progressive, severe, lower extremity spasticity. FSP is classified according to the mode of inheritance and whether progressive spasticity occurs in isolation ({open_quotes}uncomplicated FSP{close_quotes}) or with other neurologic abnormalities ({open_quotes}complicated FSP{close_quotes}), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, or deafness. Recently, autosomal dominant, uncomplicated FSP was shown to be genetically heterogeneous and tightly linked to a group of microsatellite markers on chromosome 14q in one large kindred. We examined 126 members of a non-consanguineous North American kindred of Irish descent. FSP was diagnosed in 31 living subjects who developed insidiously progressive gait disturbance between ages 12 and 35 years. Using genetic linkage analysis to microsatellite DNA polymorphisms, we showed that the FSP locus on chromosome 14q was exluded from linkage with the disorder in our family. Subsequently, we searched for genetic linkage between the disorder and microsatellite DNA polymorphisms spanning approximately 50% of the genome. We observed significantly positive, two-point maximum lod scores (Z) for markers on chromosome 15q: D15S128 (Z=9.70, {theta}=0.05), D15S165 (Z=3.30, {theta}=0.10), and UT511 (Z=3.86, {theta}=0.10). Our data clearly establishes that one locus for autosomal dominant, uncomplicated FSP is mapped to the pericentric region of chromosome 15q. Identifying genes responsible for chromosome 15q-linked and chromosome 14q-linked FSP will greatly advance our understanding of this condition and hopefully other inherited and degenerative brain and spinal cord disorders that are also characterized by axonal degeneration.

  12. Hereditary Spastic Paraplegia-Linked REEP1 Modulates ER-Mitochondria Contacts

    PubMed Central

    Lim, Youngshin; Cho, Il-Taeg; Schoel, Leah J.; Cho, Ginam; Golden, Jeffrey A.

    2015-01-01

    Objective Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs). Although axonal degeneration is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is largely unknown. Previous studies have implicated a role for REEP1 in the ER, whereas others localized REEP1 with mitochondria. We sought to resolve the cellular localization of REEP1 and to further elucidate the pathobiology underlying REEP1 mutations in patients. Methods A combination of cellular imaging and biochemical approaches was used to refine the cellular localization of REEP1. Next, Reep1 mutations associated with HSP were functionally tested in neuritic growth and degeneration assays using mouse cortical culture. Finally, a novel assay was developed and used with wild type and mutant Reep1s to measure the interactions between the ER and mitochondria. Results We found that REEP1 is present at the ER-mitochondria interface, and it contains subdomains for mitochondrial as well as ER localization. Knockdown of Reep1 and the expression of pathological Reep1 mutations resulted in neuritic growth defects and degeneration. Finally, using our novel split-RLuc8 assay, we show REEP1 facilitates ER-mitochondria interactions, a function diminished by disease-associated mutations. Interpretation Our data potentially reconcile the current conflicting reports regarding REEP1 being either an ER or a mitochondrial protein. Furthermore, our results connect, for the first time, the disrupted ER-mitochondria interactions to a failure in maintaining health of long axons in HSPs. Finally, the split-RLuc8 assay offers a new tool to identify potential drugs for multiple neurodegenerative diseases with ER-mitochondria interaction defects. PMID:26201691

  13. A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

    PubMed Central

    Abrahamsen, Greger; Fan, Yongjun; Matigian, Nicholas; Wali, Gautam; Bellette, Bernadette; Sutharsan, Ratneswary; Raju, Jyothy; Wood, Stephen A.; Veivers, David; Sue, Carolyn M.; Mackay-Sim, Alan

    2013-01-01

    SUMMARY Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of corticospinal motor neurons, which degenerate in HSP patients. Animal and cell models have identified functions of spastin and mutated spastin but these models lack the gene dosage, mutation variability and genetic background that characterize patients with the disease. In this study, this genetic variability is encompassed by comparing neural progenitor cells derived from biopsies of the olfactory mucosa from healthy controls with similar cells from HSP patients with SPAST mutations, in order to identify cell functions altered in HSP. Patient-derived cells were similar to control-derived cells in proliferation and multiple metabolic functions but had major dysregulation of gene expression, with 57% of all mRNA transcripts affected, including many associated with microtubule dynamics. Compared to control cells, patient-derived cells had 50% spastin, 50% acetylated α-tubulin and 150% stathmin, a microtubule-destabilizing enzyme. Patient-derived cells were smaller than control cells. They had altered intracellular distributions of peroxisomes and mitochondria and they had slower moving peroxisomes. These results suggest that patient-derived cells might compensate for reduced spastin, but their increased stathmin expression reduced stabilized microtubules and altered organelle trafficking. Sub-nanomolar concentrations of the microtubule-binding drugs, paclitaxel and vinblastine, increased acetylated α-tubulin levels in patient cells to control levels, indicating the utility of this cell model for screening other candidate compounds for drug therapies. PMID:23264559

  14. Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia.

    PubMed

    Garaci, Francesco; Toschi, Nicola; Lanzafame, Simona; Meschini, Alessandro; Bertini, Enrico; Simonetti, Giovanni; Santorelli, Filippo Maria; Guerrisi, Maria; Floris, Roberto

    2014-04-01

    The aim of this study was to identify potential diagnostic markers of Hereditary Spastic Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG)11- and SPG4-linked HSP, using diffusion tensor imaging performed with a 3-Tesla (3T) scanner. We examined four patients with SPG11 mutations, three with SPG4 mutations, and 26 healthy controls. We obtained maps of fractional anisotropy (FA) and mean diffusivity (MD), which we analyzed through both region of interest -based approach and tract-based spatial statistics (TBSS). Compared with healthy controls, SPG11 patients presented increased MD and decreased FA in the semioval centers, frontal and peritrigonal white matter, posterior limb of the internal capsule, and throughout the corpus callosum. Similar alterations were seen in the SPG4 patients at the levels of the semioval centers, the posterior limb of the internal capsule, the left cerebral pedicle, the genu and trunk of the corpus callosum, and the peritrigonal white matter on the left. No MD or FA alterations were observed in the cerebellar white matter. In a direct comparison, white matter alterations were more pronounced and widespread in HSP-SPG11 than in HSP-SPG4 patients. Joint TBSS analysis of all three groups confirmed significant widespread alterations of FA and MD values in the supratentorial white matter. This noninvasive study documented the presence of altered diffusivity in white matter in both forms of HSP, which could represent an important diagnostic marker of HSP. The association of reduced FA and increased MD in this patient population supports the interpretation of HPG as a neurodegenerative disorder.

  15. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

    PubMed

    Denora, Paola S; Smets, Katrien; Zolfanelli, Federica; Ceuterick-de Groote, Chantal; Casali, Carlo; Deconinck, Tine; Sieben, Anne; Gonzales, Michael; Zuchner, Stephan; Darios, Frédéric; Peeters, Dirk; Brice, Alexis; Malandrini, Alessandro; De Jonghe, Peter; Santorelli, Filippo M; Stevanin, Giovanni; Martin, Jean-Jacques; El Hachimi, Khalid H

    2016-06-01

    The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin corpus callosum on brain MRI. Full neuropathological characterization has not been reported to date despite the description of >100 SPG11 mutations. We describe here the clinical and pathological features observed in two unrelated females, members of genetically ascertained SPG11 families originating from Belgium and Italy, respectively. We confirm the presence of lesions of motor tracts in medulla oblongata and spinal cord associated with other lesions of the central nervous system. Interestingly, we report for the first time pathological hallmarks of SPG11 in neurons that include intracytoplasmic granular lysosome-like structures mainly in supratentorial areas, and others in subtentorial areas that are partially reminiscent of those observed in amyotrophic lateral sclerosis, such as ubiquitin and p62 aggregates, except that they are never labelled with anti-TDP-43 or anti-cystatin C. The neuropathological overlap with amyotrophic lateral sclerosis, associated with some shared clinical manifestations, opens up new fields of investigation in the physiopathological continuum of motor neuron degeneration. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Linkage of the late onset autosomal dominant familial spastic paraplegia (DFSPII) to chromosome 2p markers

    SciTech Connect

    Hentati, A.; Wasserman, B.; Siddique, T.

    1994-09-01

    Pure familial spastic paraplegias (FSP) is a neurodegenerative disease characterized by spasticity of lower limbs. FSP in inherited as an autosomal dominant (DFSP) or an autosomal recessive (RFSP) trait. DFSP has been classified into early onset (DFSPI) and late onset (DFSPII) based on the mean age of onset in families. A locus for RFSP has been mapped to chromosome 8, while a locus for DFSPI has been mapped to chromosome 14q. Genetic locus heterogeneity was observed in both of these forms. The location of DFSPII locus (or loci) is unknown. We collected DNA samples from 81 individuals including 26 affecteds from three DFSPII families (9998, 840, 581). The mean age of onset of systems was 26.5, 42.5, and 35.2 years, respectively. We first tested 156 DNA markers distributed throughout the human 22 autosomes with family 9998 and positive lod scores were obtained with chromosome 2p markers D2S174 (Z({theta})=2.93 at {theta}=0.00), D2S146 (Z({theta})=1.03 at {theta}=0.00) and D2S177 (Z({theta})=1.04 at {theta}=0.00). Analysis of the 2 additional families confirmed the linkage with a peak lod score of Z({theta})=4.62 at {theta}=0.105 with D2S174. The multipoint linkage analysis using the map D2S175-10cM-D2S174-14cM-D2DS177 suggested that the DFSPII locus most likely maps between D2S174 and D2S177 with Z({theta})=6.11. There was no evidence in our data supporting genetic locus heterogeneity for the DFSPII.

  17. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

    PubMed Central

    Orthmann-Murphy, Jennifer L.; Salsano, Ettore; Abrams, Charles K.; Bizzi, Alberto; Uziel, Graziella; Freidin, Mona M.; Lamantea, Eleonora; Zeviani, Massimo; Scherer, Steven S.

    2009-01-01

    Recessive mutations in GJA12/GJC2, the gene that encodes the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), an early onset dysmyelinating disorder of the CNS, characterized by nystagmus, psychomotor delay, progressive spasticity and cerebellar signs. Here we describe three patients from one family with a novel recessively inherited mutation, 99C>G (predicted to cause an Ile>Met amino acid substitution; I33M) that causes a milder phenotype. All three had a late-onset, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomotor development, preserved walking capability through adulthood, and no nystagmus. MRI and MR spectroscopy imaging were consistent with a hypomyelinating leukoencephalopathy. The mutant protein forms gap junction plaques at cell borders similar to wild-type (WT) Cx47 in transfected cells, but fails to form functional homotypic channels in scrape-loading and dual whole-cell patch clamp assays. I33M forms overlapping gap junction plaques and functional channels with Cx43, however, I33M/Cx43 channels open only when a large voltage difference is applied to paired cells. These channels probably do not function under physiological conditions, suggesting that Cx47/Cx43 channels between astrocytes and oligodendrocytes are disrupted, similar to the loss-of-function endoplasmic reticulum-retained Cx47 mutants that cause PMLD. Thus, GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known. PMID:19056803

  18. Complete Makeover

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

    Released July 23, 2004 The atmosphere of Mars is a dynamic system. Water-ice clouds, fog, and hazes can make imaging the surface from space difficult. Dust storms can grow from local disturbances to global sizes, through which imaging is impossible. Seasonal temperature changes are the usual drivers in cloud and dust storm development and growth.

    Eons of atmospheric dust storm activity has left its mark on the surface of Mars. Dust carried aloft by the wind has settled out on every available surface; sand dunes have been created and moved by centuries of wind; and the effect of continual sand-blasting has modified many regions of Mars, creating yardangs and other unusual surface forms.

    We finish our look at Mars's dynamic atmosphere with an image of the surface that has been completely modified by the wind. Even the small ridges that remain have been ground down to a cliff-face with a 'tail' of eroded material. The crosshatching shows that the wind regime has remained mainly E/W to ENE/WSW.

    Image information: VIS instrument. Latitude 8.9, Longitude 221 East (139 West). 19 meter/pixel resolution.

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

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip

  19. Complete Makeover

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

    Released July 23, 2004 The atmosphere of Mars is a dynamic system. Water-ice clouds, fog, and hazes can make imaging the surface from space difficult. Dust storms can grow from local disturbances to global sizes, through which imaging is impossible. Seasonal temperature changes are the usual drivers in cloud and dust storm development and growth.

    Eons of atmospheric dust storm activity has left its mark on the surface of Mars. Dust carried aloft by the wind has settled out on every available surface; sand dunes have been created and moved by centuries of wind; and the effect of continual sand-blasting has modified many regions of Mars, creating yardangs and other unusual surface forms.

    We finish our look at Mars's dynamic atmosphere with an image of the surface that has been completely modified by the wind. Even the small ridges that remain have been ground down to a cliff-face with a 'tail' of eroded material. The crosshatching shows that the wind regime has remained mainly E/W to ENE/WSW.

    Image information: VIS instrument. Latitude 8.9, Longitude 221 East (139 West). 19 meter/pixel resolution.

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

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip

  20. Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

    PubMed Central

    Nielsen, Marit N.; Hansen, Jakob; Füchtbauer, Annette; Füchtbauer, Ernst-Martin; West, Mark; Corydon, Thomas J.; Gregersen, Niels; Bross, Peter

    2010-01-01

    The mitochondrial Hsp60 chaperonin plays an important role in sustaining cellular viability. Its dysfunction is related to inherited forms of the human diseases spastic paraplegia and hypomyelinating leukodystrophy. However, it is unknown whether the requirement for Hsp60 is neuron specific or whether a complete loss of the protein will impair mammalian development and postnatal survival. In this study, we describe the generation and characterization of a mutant mouse line bearing an inactivating gene-trap insertion in the Hspd1 gene encoding Hsp60. We found that heterozygous mice were born at the expected ratio compared to wild-type mice and displayed no obvious phenotype deficits. Using quantitative reverse transcription PCR, we found significantly decreased levels of the Hspd1 transcript in all of the tissues examined, demonstrating that the inactivation of the Hspd1 gene is efficient. By Western blot analysis, we found that the amount of Hsp60 protein, compared to either cytosolic tubulin or mitochondrial voltage-dependent anion-selective channel protein 1/porin, was decreased as well. The expression of the nearby Hspe1 gene, which encodes the Hsp10 co-chaperonin, was concomitantly down regulated in the liver, and the protein levels in all tissues except the brain were reduced. Homozygous Hspd1 mutant embryos, however, died shortly after implantation (day 6.5 to 7.5 of gestation, Theiler stages 9–10). Our results demonstrate that Hspd1 is an essential gene for early embryonic development in mice, while reducing the amount of Hsp60 by inactivation of one allele of the gene is compatible with survival to term as well as postnatal life. PMID:20393889

  1. Oral pulsatile delivery: rationale and chronopharmaceutical formulations.

    PubMed

    Maroni, Alessandra; Zema, Lucia; Del Curto, Maria Dorly; Loreti, Giulia; Gazzaniga, Andrea

    2010-10-15

    Oral pulsatile/delayed delivery systems are designed to elicit programmable lag phases preceding a prompt and quantitative, repeated or prolonged release of drugs. Accordingly, they draw increasing interest because of the inherent suitability for accomplishing chronotherapeutic goals, which have recently been highlighted in connection with a number of widespread chronic diseases with typical night or early-morning recurrence of symptoms (e.g. bronchial asthma, cardiovascular disease, rheumatoid arthritis, early-morning awakening). In addition, time-based colonic release can be attained when pulsatile delivery systems are properly adapted to overcome unpredictable gastric emptying and provide delay phases that would approximately match the small intestinal transit time. Oral pulsatile delivery is pursued by means of a variety of release platforms, namely reservoir, capsular and osmotic devices. The aim of the present review is to outline the rationale and main formulation strategies behind delayed-release dosage forms intended for the pharmacological treatment of chronopathologies.

  2. Rationale for Student Dress Codes: A Review of School Handbooks

    ERIC Educational Resources Information Center

    Freeburg, Elizabeth W.; Workman, Jane E.; Lentz-Hees, Elizabeth S.

    2004-01-01

    Through dress codes, schools establish rules governing student appearance. This study examined stated rationales for dress and appearance codes in secondary school handbooks; 182 handbooks were received. Of 150 handbooks containing a rationale, 117 related dress and appearance regulations to students' right to a non-disruptive educational…

  3. Rationale for Student Dress Codes: A Review of School Handbooks

    ERIC Educational Resources Information Center

    Freeburg, Elizabeth W.; Workman, Jane E.; Lentz-Hees, Elizabeth S.

    2004-01-01

    Through dress codes, schools establish rules governing student appearance. This study examined stated rationales for dress and appearance codes in secondary school handbooks; 182 handbooks were received. Of 150 handbooks containing a rationale, 117 related dress and appearance regulations to students' right to a non-disruptive educational…

  4. A Rationale for Special Education in Catholic Schools

    ERIC Educational Resources Information Center

    Long, Thomas J.; Schuttloffel, Merylann J.

    2006-01-01

    Debates about inclusive education for students with special needs challenge Catholic educators to develop a rationale consistent with Catholic theology and Church teaching. Guided by the rationale, arguments are made for the role Catholic schools, seminaries, and Catholic higher education should contribute to realize an inclusive Church.…

  5. "Socialized Music": Historical Formations of Community Music through Social Rationales

    ERIC Educational Resources Information Center

    Yerichuk, Deanna

    2014-01-01

    This article traces the formation of community music through professional and scholarly articles over the last century in North America, and argues that community music has been discursively formed through social rationales, although the specific rationales have shifted. The author employs an archaeological framework inspired by Michel Foucault to…

  6. "Socialized Music": Historical Formations of Community Music through Social Rationales

    ERIC Educational Resources Information Center

    Yerichuk, Deanna

    2014-01-01

    This article traces the formation of community music through professional and scholarly articles over the last century in North America, and argues that community music has been discursively formed through social rationales, although the specific rationales have shifted. The author employs an archaeological framework inspired by Michel Foucault to…

  7. Education and the Rationale of Cost-Benefit Analysis

    ERIC Educational Resources Information Center

    Gilead, Tal

    2014-01-01

    It is increasingly maintained that cost-benefit analysis (CBA) should play a greater role in educational policy-making. This article critically examines the rationale guiding CBA and its compatibility to educational settings. Drawing on philosophical discussions, it argues that the rationale guiding CBA has some fundamental limitations that render…

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

    PubMed Central

    Lujan, Heidi L.; Chen, Ying; DiCarlo, Stephen E.

    2009-01-01

    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, T5 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

  9. Non-traumatic acute paraplegia associated with a CT-guided needle biopsy in a silicotic nodule: A case report

    PubMed Central

    XU, LIYING; DING, XUN; LIAO, MEIYAN

    2016-01-01

    The present study reports the case of an adult patient with non-traumatic acute paraplegia following a computed tomography (CT)-guided automated cutting needle biopsy (ACNB). Multiple nodules and masses were revealed on performing chest radiography and CT on a 45-year-old man. In order to make a pathological diagnosis, a CT-guided biopsy using an automatic cutting needle was performed. However, 10 min after the biopsy, a weakness of the lower extremities occurred, and the patient collapsed to the ground, albeit with clear consciousness. Spinal magnetic resonance imaging (MRI) performed subsequently revealed no abnormal findings in the spinal cord. An MRI performed 24 h later, however, revealed swelling of the thoracic spinal cord and a high-signal-intensity lesion in T2-weighted images at the level of T7, T8 and T9. The patient subsequently received hyperbaric oxygen therapy for a few days, and rehabilitative treatment over the course of a few weeks. At 6 months following the biopsy, the patient was unable to walk, although the patient could stand for 10 min and defecate independently. Currently, the patient remains active in daily life, in spite of confinement to a wheelchair. The present case study was reported to raise the awareness of the possibility of spinal cord ischemia and acute paraplegia following a CT-guided ACNB of the lungs. The mechanism underlying spinal cord ischemia remains to be fully elucidated, although is thought to be multifactorial, involving air embolism. PMID:26998303

  10. Intraoperative Changes in Cerebrospinal Fluid Gas Tensions Reflect Paraplegia During Thoracoabdominal Aortic Surgery: A Proof-of-Principle Study.

    PubMed

    Fleissner, Felix; Redwan, Ahmed; Bisdas, Theodosios; Boeck, Anna-Lena; Weissenborn, Karin; Haverich, Axel; Teebken, Omke E; Pichlmaier, Maximilian; Martens, Andreas

    2015-01-01

    In this study, gas tensions in cerebrospinal fluid (CSF) were prospectively evaluated as intraoperative markers for the detection of neurological deficits. Spinal fluid, serum, and heart lung machine (HLM) perfusate were monitored for gas tensions (po 2/pCo 2) and related parameters (pH, lactate, and glucose) during thoracoabdominal aortic repair and correlated with perioperative neurological examination and electrophysiological testing. Forty-seven patients were assessed for the study, and 40 consecutive patients were finally included. The patients were divided into 3 groups: group A (23 patients, 57.5%): no clinical or laboratory signs of neurological damage; group B (14 patients, 35%) who developed subclinical deficits; and group C (3 patients, 7.5%) who had paraplegia. Significant intraoperative changes in CSF gas tensions were observed with postoperative paraplegia. Glucose ratio between serum and CSF showed higher variability in group C, confirming a damage of the blood-brain barrier (BBB). Major neurological damage is reflected by early changes in CSF gas tensions and glucose variability, suggesting damage of the BBB in these patients. © The Author(s) 2015.

  11. Comparison of Blood Lactate Elimination in Individuals With Paraplegia and Able-Bodied Individuals During Active Recovery From Exhaustive Exercise

    PubMed Central

    Leicht, Christof; Perret, Claudio

    2008-01-01

    Background/Objective: The aim of the present study was to compare blood lactate elimination between individuals with paraplegia (P) and able-bodied (AB) individuals after strenuous arm exercise. Methods: Eight P and 8 AB men (matched for age, height, and weight) participated in this study. Average weekly arm-training volume for P participants (eg, hand bike, wheelchair basketball) and AB participants (eg, swimming, rowing, cross-country skiing) was 4.1 ± 1.6 vs 2.8 ± 0.8 h. A maximal-arm-cranking intensity-graded exercise test to volitional exhaustion was performed by all test participants. Immediately after the exercise test, the participants performed arm cranking for another 30 minutes at a workload of one third of the maximally achieved power output. During this active recovery, mixed-capillary blood samples were taken for lactate analysis. Results: The lactate accumulation constant was significantly higher for P individuals, whereas the lactate elimination constant showed no significant difference between the two groups. Conclusions: Individuals with paraplegia seem to have no disadvantages in lactate elimination after exhaustive arm exercise compared with able-bodied individuals. PMID:18533413

  12. Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

    PubMed

    López, Eva; Casasnovas, Carlos; Giménez, Javier; Matilla-Dueñas, Antoni; Sánchez, Ivelisse; Volpini, Víctor

    2015-04-01

    Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia (AR-HSP). Although over 77 different mutations have been identified in SPG7 patients, only 9 gross deletions have been reported with only a few of them being fully characterized. Here, we present a detailed description of a large homozygous intragenic SPG7 gene rearrangement involving a 5144-base pair (bp) genomic loss (c. 1450-446_1779 + 746 delinsAAAGTGCT) encompassing exons 11 to 13, identified in a Spanish AR-HSP family. Analysis of the deletion junction sequences revealed that the 5' breakpoint of this SPG7 gene deletion was located within highly homologous Alu sequences where the 3' breakpoint appears to be flanked by the core crossover hotspot instigator (chi)-like sequence (GCTGG). Furthermore, an 8-bp (AAAGTTGCT) conserved sequence at the breakpoint junction was identified, suggesting that the most likely mechanism for the occurrence of this rearrangement is by Alu microhomology and chi-like recombination-associated motif-mediated multiple exon deletion. Our results are consistent with non-allelic homologous recombination and non-homologous end joining in deletion mutagenesis for the generation of rearrangements. This study provides more evidence associating repeated elements as a genetic mechanism underlying neurodegenerative disorders, highlighting their importance in human diseases.

  13. The influence of shoulder pain on functional limitation, perceived health, and depressive mood in patients with traumatic paraplegia.

    PubMed

    Wang, Jia-Chi; Chan, Rai-Chi; Tsai, Yun-An; Huang, Wen-Cheng; Cheng, Henrich; Wu, Han-Lin; Huang, Shih-Fong

    2015-09-01

    To assess whether functional activity, perceived health, and depressive symptoms differ between individuals with traumatic paraplegia with and without shoulder pain. Cross sectional and comparative investigation using the unified questionnaire. Neural Regeneration and Repair Division unit of Taipei Veterans General Hospital in Taiwan. Seventy-six patients with paraplegia (23 with and 53 without shoulder pain) who had experienced spinal cord injury at American Spinal Injury Association Impairment Scale T2 to T12 neurologic level (at least 6 months previously). Spinal Cord Independence Measure (SCIM), a single item from the Medical Outcomes Study 36-Item Short-Form Health Survey, and Patient Health Questionnaire-9 (PHQ-9) depression scale. Shoulder pain was prevalent in 30% patients. Patients with shoulder pain had significantly worse perceived health and greater depressive symptoms than those without. No significant difference was found in functional ability between groups. Greater shoulder pain intensity was related to higher depressive scores (r=0.278, P=0.017) and lower self-perceived health scores (r=-0.433, P<0.001) but not SCIM scores (P=0.342). Although shoulder pain was unrelated to functional limitation, it was associated with lower perceived health and higher depressive mood levels.

  14. Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.

    PubMed

    Kawarai, Toshitaka; Miyamoto, Ryosuke; Mori, Atsuko; Oki, Ryosuke; Tsukamoto-Miyashiro, Ai; Matsui, Naoko; Miyazaki, Yoshimichi; Orlacchio, Antonio; Izumi, Yuishin; Nishida, Yoshihiko; Kaji, Ryuji

    2015-12-15

    We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing. The mutant transcripts are mostly subject to degradation by the nonsense-mediated mRNA decay system. SPG11 transcripts, escaping from the nonsense-mediated mRNA decay pathway, would generate a truncated protein (p.Tyr1900Phefs5X) containing the first 1899 amino acids and followed by 4 aberrant amino acids. This study showed a successful clinical application of whole-exome sequencing in spastic paraplegia and demonstrated a further evidence of allelic heterogeneity in SPG11. The confirmation of aberrant transcript by splice site mutation is a prerequisite for a more precise molecular diagnosis. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. The influence of shoulder pain on functional limitation, perceived health, and depressive mood in patients with traumatic paraplegia

    PubMed Central

    Wang, Jia-Chi; Chan, Rai-Chi; Tsai, Yun-An; Huang, Wen-Cheng; Cheng, Henrich; Wu, Han-Lin

    2015-01-01

    Objective To assess whether functional activity, perceived health, and depressive symptoms differ between individuals with traumatic paraplegia with and without shoulder pain. Design Cross sectional and comparative investigation using the unified questionnaire. Setting Neural Regeneration and Repair Division unit of Taipei Veterans General Hospital in Taiwan. Participants Seventy-six patients with paraplegia (23 with and 53 without shoulder pain) who had experienced spinal cord injury at American Spinal Injury Association Impairment Scale T2 to T12 neurologic level (at least 6 months previously). Outcome measures Spinal Cord Independence Measure (SCIM), a single item from the Medical Outcomes Study 36-Item Short-Form Health Survey, and Patient Health Questionnaire-9 (PHQ-9) depression scale. Results Shoulder pain was prevalent in 30% patients. Patients with shoulder pain had significantly worse perceived health and greater depressive symptoms than those without. No significant difference was found in functional ability between groups. Greater shoulder pain intensity was related to higher depressive scores (r = 0.278, P = 0.017) and lower self-perceived health scores (r = −0.433, P < 0.001) but not SCIM scores (P = 0.342). Conclusion Although shoulder pain was unrelated to functional limitation, it was associated with lower perceived health and higher depressive mood levels. PMID:25296991

  16. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

    PubMed

    Lu, Xingjiao; Cen, Zhidong; Xie, Fei; Ouyang, Zhiyuan; Zhang, Baorong; Zhao, Guohua; Luo, Wei

    2014-12-15

    Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. At least 52 different gene loci have been identified so far, involving autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and maternal inheritance. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes are responsible for about 50% of pure AD-HSP patients. In this study, SPAST and ATL1 mutations were screened in 36 unrelated HSP patients (17 probands with AD family history and 19 sporadic HSP patients) by direct sequencing and multiplex ligation dependent probe amplification (MLPA). We identified 3 micro-mutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene. Four of five micro-mutations were novel and del. ex. 13-15 in SPAST was not reported previously. In this cohort of Chinese patients with spastic paraplegia, SPAST and ATL1 mutations were found in 5 of 17 HSP probands with AD family history and in 2 of 19 sporadic HSP patients. Four novel micro-mutations and one novel exon deletion were identified, which broadened the mutational spectrum of the genes. Copyright © 2014 Elsevier B.V. All rights reserved.

  17. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

    PubMed

    López, Eva; Casasnovas, Carlos; Giménez, Javier; Santamaría, Raúl; Terrazas, Jesús M; Volpini, Víctor

    2015-11-15

    Spastic paraplegia type 10 (SPG10) is a rare form of autosomal dominant hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been associated with a wide clinical spectrum, ranging from pure HSP to isolated peripheral nerve involvement or complicated HSP phenotypes. Most KIF5A mutations are clustered in the motor domain of the protein that is necessary for microtubule interaction. Here we describe two Spanish families with an adult onset complicated AD-HSP in which neurological studies revealed a mild sensory neuropathy. Intention tremor was also present in both families. Molecular genetic analysis identified two novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions respectively. Both were located in the highly conserved kinesin motor domain of the protein which has previously been identified as a hot spot for KIF5A mutations. This study adds to the evidence associating the known occurrence of mild peripheral neuropathy in the adult onset SPG10 type of AD-HSP. Copyright © 2015 Elsevier B.V. All rights reserved.

  18. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.

    PubMed

    Kawarai, Toshitaka; Montecchiani, Celeste; Miyamoto, Ryosuke; Gaudiello, Fabrizio; Caltagirone, Carlo; Izumi, Yuishin; Kaji, Ryuji; Orlacchio, Antonio

    2017-09-15

    Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy and the other from Japan. Exon 6 is skipped out by the variant, leading to a premature termination of translation, p.Gly290Trpfs*5. Measurement of SPAST transcripts in lymphocytes demonstrated a reduction through nonsense-mediated mRNA decay (NMD). Intra- and inter-familial phenotypic variations were observed, including age-at-onset, severity of spasticity, and scoliosis. Our study demonstrated further evidence of allelic heterogeneity in SPG4, dosage effects through NMD, and broad clinical features of the SPAST mutation. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

    PubMed

    Estrada-Cuzcano, Alejandro; Martin, Shaun; Chamova, Teodora; Synofzik, Matthis; Timmann, Dagmar; Holemans, Tine; Andreeva, Albena; Reichbauer, Jennifer; De Rycke, Riet; Chang, Dae-In; van Veen, Sarah; Samuel, Jean; Schöls, Ludger; Pöppel, Thorsten; Mollerup Sørensen, Danny; Asselbergh, Bob; Klein, Christine; Zuchner, Stephan; Jordanova, Albena; Vangheluwe, Peter; Tournev, Ivailo; Schüle, Rebecca

    2017-02-01

    Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments. Further analysis of 795 index cases with hereditary spastic paraplegia and related disorders revealed two additional families carrying truncating biallelic mutations in ATP13A2. ATP13A2 is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation. Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function. Moreover, we provide the first biochemical evidence that disease-causing mutations can affect the catalytic autophosphorylation activity of ATP13A2. Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. The disease presentation in our patients with hereditary spastic paraplegia was dominated by an adult-onset lower-limb predominant

  20. Paraplegia prevention by oral pretreatment with memantine in a rabbit model.

    PubMed

    Panthee, Nirmal; Ono, Minoru; Morota, Tetsuro; Tanaka, Tsuruhito; Itoda, Yoshifumi; Ikemura, Masako; Yamamoto, Takehito; Suzuki, Hiroshi; Saito, Aya; Motomura, Noboru

    2014-10-01

    To evaluate the role of memantine (N-methyl-d-aspartate receptor antagonist) pretreatment for the prevention of spinal cord ischemia after infrarenal aortic clamping in a rabbit model. Thirty New Zealand White rabbits were divided into 5 different groups of 6 rabbits. Groups 60-7 and 60-5 received oral memantine 60 mg once a day for 7 and 5 days, respectively, and groups 30-5 and 30-3 received oral memantine 30 mg once a day for 5 and 3 days, respectively, all before surgery. Group C (control) received normal feeds without memantine. A paraplegic model was created by clamping both the aorta and the inferior vena cava infrarenally and just proximal to their bifurcations for 45 minutes. The modified Tarlov score, motor evoked potential (MEP), serum memantine concentration, and histopathology of the spinal cord were evaluated. The mean modified Tarlov scores were 4.2±1.3, 4.3±1.0, 4.2±1.3, 4.3±1.2, and 0.8±1.6 in groups 60-7, 60-5, 30-5, 30-3, and C, respectively at 6, 24, 48, and 72 hours (P<.009 for individual groups vs control). Percentage amplitude loss of MEP by the end of surgery was 29.5%±46.3%, 11.9%±28.0%, 30.0%±46.8%, 16.7%±40.8%, and 81.8%±40.3% for the 5 groups, respectively (P=.049). After declamping, MEP reappeared in 83%, 100%, 83%, 83%, and 33% of cases in the 5 groups, respectively (P=.073). The serum memantine level was similar in the 4 memantine groups. Spinal cords were normal in most of the rabbits in groups 60-7, 60-5, 30-5, and 30-3, but severely ischemic in most of the rabbits in group C (P=.041). Oral memantine pretreatment is protective against spinal cord ischemia, and can be an additional strategy for the prevention of paraplegia during thoracoabdominal aortic surgeries. Copyright © 2014 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

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

    PubMed Central

    Fink, John K.

    2014-01-01

    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 diverse ethnic groups with prevalence estimates ranging from 1.2 to 9.6 per 100,000 [39, 70, 77, 154, 185]. 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. Post mortem 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 axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly SPG4/Spastin); endoplasmic reticulum morphology (e.g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); 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) [113-115], “mutilating sensory neuropathy with spastic paraplegia” due 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

  2. 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.

  3. Hereditary spastic paraplegia SPG4: what is known and not known about the disease

    PubMed Central

    Solowska, Joanna M.

    2015-01-01

    Mutations in more than 70 distinct loci and more than 50 mutated gene products have been identified in patients with hereditary spastic paraplegias, a diverse group of neurological disorders characterized predominantly, but not exclusively, by progressive lower limb spasticity and weakness resulting from distal degeneration of corticospinal tract axons. Mutations in the SPAST (previously known as SPG4) gene that encodes the microtubule-severing protein called spastin, are the most common cause of the disease. The aetiology of the disease is poorly understood, but partial loss of microtubule-severing activity resulting from inactivating mutations in one SPAST allele is the most postulated explanation. Microtubule severing is important for regulating various aspects of the microtubule array, including microtubule number, length, and mobility. In addition, higher numbers of dynamic plus-ends of microtubules, resulting from microtubule-severing events, may play a role in endosomal tubulation and fission. Even so, there is growing evidence that decreased severing of microtubules does not fully explain HSP-SPG4. The presence of two translation initiation codons in SPAST allows synthesis of two spastin isoforms: a full-length isoform called M1 and a slightly shorter isoform called M87. M87 is more abundant in both neuronal and non-neuronal tissues. Studies on rodents suggest that M1 is only readily detected in adult spinal cord, which is where nerve degeneration mainly occurs in humans with HSP-SPG4. M1, due to its hydrophobic N-terminal domain not shared by M87, may insert into endoplasmic reticulum membrane, and together with reticulons, atlastin and REEP1, may play a role in the morphogenesis of this organelle. Some mutated spastins may act in dominant-negative fashion to lower microtubule-severing activity, but others have detrimental effects on neurons without further lowering microtubule severing. The observed adverse effects on microtubule dynamics, axonal

  4. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

    PubMed Central

    Rinaldi, Carlo; Schmidt, Thomas; Situ, Alan J.; Johnson, Janel O.; Lee, Philip R.; Chen, Ke-lian; Bott, Laura C.; Fadó, Rut; Harmison, George H.; Parodi, Sara; Grunseich, Christopher; Renvoisé, Benoît; Biesecker, Leslie G.; De Michele, Giuseppe; Santorelli, Filippo M.; Filla, Alessandro; Stevanin, Giovanni; Dürr, Alexandra; Brice, Alexis; Casals, Núria; Traynor, Bryan J.; Blackstone, Craig; Ulmer, Tobias S.; Fischbeck, Kenneth H.

    2017-01-01

    IMPORTANCE The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. OBJECTIVE To identify the genetic cause for a novel form of pure autosomal dominant HSP. DESIGN, SETTING, AND PARTICIPANTS We examined and followed up with a family presenting to a tertiary referral center for evaluation of HSP for a decade until August 2014. Whole-exome sequencing was performed in 4 patients from the same family and was integrated with linkage analysis. Sanger sequencing was used to confirm the presence of the candidate variant in the remaining affected and unaffected members of the family and screen the additional patients with HSP. Five affected and 6 unaffected participants from a 3-generation family with pure adult-onset autosomal dominant HSP of unknown genetic origin were included. Additionally, 163 unrelated participants with pure HSP of unknown genetic cause were screened. MAIN OUTCOME AND MEASURE Mutation in the neuronal isoform of carnitine palmitoyl-transferase (CPT1C) gene. RESULTS We identified the nucleotide substitution c.109C>T in exon 3 of CPT1C, which determined the base substitution of an evolutionarily conserved Cys residue for an Arg in the gene product. This variant strictly cosegregated with the disease phenotype and was absent in online single-nucleotide polymorphism databases and in 712 additional exomes of control participants. We showed that CPT1C, which localizes to the endoplasmic reticulum, is expressed in motor neurons and interacts with atlastin-1, an endoplasmic reticulum protein encoded by the ATL1 gene known to be mutated in pure HSPs. The mutation, as indicated by nuclear magnetic resonance spectroscopy studies, alters the protein conformation and reduces the mean (SD) number (213.0 [46.99] vs 81.9 [14.2]; P < .01) and size (0.29 [0.01] vs 0.26 [0

  5. Comparison of 24-hour cardiovascular and autonomic function in paraplegia, tetraplegia, and control groups: Implications for cardiovascular risk

    PubMed Central

    Rosado-Rivera, Dwindally; Radulovic, M.; Handrakis, John P.; Cirnigliaro, Christopher M.; Jensen, A. Marley; Kirshblum, Steve; Bauman, William A.; Wecht, Jill Maria

    2011-01-01

    Background Fluctuations in 24-hour cardiovascular hemodynamics, specifically heart rate (HR) and blood pressure (BP), are thought to reflect autonomic nervous system (ANS) activity. Persons with spinal cord injury (SCI) represent a model of ANS dysfunction, which may affect 24-hour hemodynamics and predispose these individuals to increased cardiovascular disease risk. Objective To determine 24-hour cardiovascular and ANS function among individuals with tetraplegia (n = 20; TETRA: C4–C8), high paraplegia (n = 10; HP: T2–T5), low paraplegia (n = 9; LP: T7–T12), and non-SCI controls (n = 10). Twenty-four-hour ANS function was assessed by time domain parameters of heart rate variability (HRV); the standard deviation of the 5-minute average R–R intervals (SDANN; milliseconds/ms), and the root-mean square of the standard deviation of the R–R intervals (rMSSD; ms). Subjects wore 24-hour ambulatory monitors to record HR, HRV, and BP. Mixed analysis of variance (ANOVA) revealed significantly lower 24-hour BP in the tetraplegic group; however, BP did not differ between the HP, LP, and control groups. Mixed ANOVA suggested significantly elevated 24-hour HR in the HP and LP groups compared to the TETRA and control groups (P < 0.05); daytime HR was higher in both paraplegic groups compared to the TETRA and control groups (P < 0.01) and nighttime HR was significantly elevated in the LP group compared to the TETRA and control groups (P < 0.01). Twenty-four-hour SDANN was significantly increased in the HP group compared to the LP and TETRA groups (P < 0.05) and rMSSD was significantly lower in the LP compared to the other three groups (P < 0.05). Elevated 24-hour HR in persons with paraplegia, in concert with altered HRV dynamics, may impart significant adverse cardiovascular consequences, which are currently unappreciated. PMID:21903013

  6. Opening Minds in Canada: Background and Rationale

    PubMed Central

    Stuart, Heather; Chen, Shu-Ping; Christie, Romie; Dobson, Keith; Kirsh, Bonnie; Knaak, Stephanie; Koller, Michelle; Krupa, Terry; Lauria-Horner, Bianca; Luong, Dorothy; Modgill, Geeta; Patten, Scott B; Pietrus, Mike; Szeto, Andrew; Whitley, Rob

    2014-01-01

    Objective: To summarize the background and rationale of the approach taken by the Mental Health Commission of Canada’s Opening Minds (OM) Anti-Stigma Initiative. Method: The approach taken by OM incorporates a grassroots, community development philosophy, has clearly defined target groups, uses contact-based education as the central organizing element across interventions, and has a strong evaluative component, so that best practices can be identified, replicated, and disseminated. Contact-based education occurs when people who have experienced a mental illness share their personal story of recovery and hope. Results: OM has acted as a catalyst to develop partnerships between community groups who are undertaking anti-stigma work and an interdisciplinary team of academic researchers in 5 universities who are evaluating the results of these programs. Conclusions: Building partnerships with existing community programs and promoting systematic evaluation using standardized approaches and instruments have contributed to our understanding of best practices in the field of anti-stigma programming. PMID:25565705

  7. Transcatheter Intraarterial Therapies: Rationale and Overview

    PubMed Central

    Geschwind, Jean-Francois; Liapi, Eleni; Salem, Riad

    2011-01-01

    Transcatheter intraarterial therapies have proved valuable in the battle against primary and secondary hepatic malignancies. The unique aspects of all such therapies are their reduced toxicity profiles and highly effective tumor responses. These unique characteristics coupled with their minimally invasive nature provide an attractive therapeutic option in patients who may have previously had few alternatives. The concept of all catheter-based intraarterial therapies is to selectively deliver anticancer treatment to tumor(s). These therapies, which include transarterial embolization, intraarterial chemoinfusion, transarterial chemoembolization with or without drug-eluting beads, and radioembolization with use of yttrium 90, inflict lethal insult to tumors while preserving normal hepatic parenchyma. This is possible because hepatic neoplasms preferentially derive their blood supply from an arterial source while the majority of noncancerous liver is supplied by the portal vein. As part of the interventional oncology review series, in this article we describe the rationale behind each of these transcatheter therapies and provide a review of the existing medical literature. © RSNA, 2011 PMID:21602502

  8. The chlamydia screening studies: rationale and design

    PubMed Central

    Low, N; McCarthy, A; Macleod, J; Salisbury, C; Horner, P; Roberts, T; Campbell, R; Herring, A; Skidmore, S; Sanford, E; Sterne, J; Davey, S; Graham, A; Huengsberg, M; Ross, J; Egger, M; t for

    2004-01-01

    Background: Screening has been recommended to reduce the prevalence and morbidity associated with genital chlamydia infection in the United Kingdom. Methods: We describe the rationale and study design of the Chlamydia Screening Studies (ClaSS), a collaborative project designed to evaluate screening outside genitourinary medicine clinics. A non-selective, active screening approach in 16–39 year olds randomly sampled from 27 general practice lists in the Bristol and Birmingham areas formed the basis of interlinked studies: a case-control study was used to investigate factors to improve the targeting of screening; participants with chlamydia were invited to enrol in a randomised controlled trial to evaluate partner notification conducted in primary care; and laboratory based studies were used to assess the best specimens and tests. We also explored psychosocial effects of screening and partner notification and modelled the cost effectiveness of the programme. Conclusion: Results from four pilot practices show that mailing of specimens for chlamydia testing is feasible but that it is difficult to achieve high response rates with postal screening. The high prevalence of asymptomatic infection in men suggests that efforts to screen men for chlamydia should be strengthened. PMID:15459400

  9. Rationale for tilted implants: FEA considerations and clinical reports

    PubMed Central

    DE VICO, G.; BONINO, M.; SPINELLI, D.; SCHIAVETTI, R.; SANNINO, G.; POZZI, A.; OTTRIA, L.

    2011-01-01

    SUMMARY The prevalence of the elderly population, as well as life expectancy, increased in the final decades of the 20th century, as described in the World Health Organization 2004 Annual Report. The edentulous condition therefore has a negative impact on the oral health–related quality of life. Patients wearing complete dentures for many years infact, and especially in the mandible, are often unsatisfied because of the instability of the prosthesis during speaking and eating. To date dental implant treatment is well documented as a predictable treatment for partial or complete edentulism. On the other hand the rehabilitation of atrophied edentulous arches with endosseous implants (> 10 mm) in the posterior regions is often associated with anatomic problems such as bone resorption, poor bone quality, mandibular canal, and the presence of maxillary sinuses. Different procedures have been proposed to overcome these anatomic limitations. The use of tilted implants parallel to the anterior wall of the maxillary sinus or the mental foramen/inferior alveolar nerve has been proposed as a conservative solution for the treatment of the atrophic edentulous maxilla. Aim of this study was to describe, through a detailed literature review, the clinical and biomechanical rationale for tilting implants and to evaluate the long-term prognosis of immediately loaded full fixed prostheses for the treatment of edentulous patients (#35) with extreme bone atrophy rehabilited with both axial (#70) and tilted (#70) implants from 2008 to 2010. The results of the present study would suggest that this new surgical technique may reduce patient morbidity and extend the indications for immediate loading full fixed rehabilitations. This improves the predictability of treatment goal, allows for a better risk management, and provides more individual information for the patient. These are the most important aspects of this technology, which may contribute to establish higher-quality standards in

  10. The Healthy Communities Study: Its Rationale, Aims, and Approach.

    PubMed

    Arteaga, S Sonia; Loria, Catherine M; Crawford, Patricia B; Fawcett, Stephen B; Fishbein, Howard A; Gregoriou, Maria; John, Lisa V; Kelley, Melinda; Pate, Russell R; Ritchie, Lorrene D; Strauss, Warren J

    2015-10-01

    Communities across the U.S. are implementing programs and policies designed to address the epidemic of childhood obesity. These programs vary widely in their approaches, including the intensity level, duration, funding, target population, and implementation techniques. However, no previous studies have examined these variations and determined how such aspects of community programs and policies are related to childhood obesity outcomes. The Healthy Communities Study is an observational study that is assessing the associations between characteristics of community programs and policies and BMI, nutrition, and physical activity in children. The Healthy Communities Study was funded in 2010, field data collection and medical record abstraction will be completed in 2015, and data cleaning and analyses will be completed by mid-year 2016. One-hundred and thirty communities (defined as a high school catchment area) and approximately 5,000 children in kindergarten through eighth grade and their parents have been recruited from public elementary and middle schools across the country. The study is examining quantitative and qualitative information obtained from community-based initiatives; measures of community characteristics (e.g., school environment); and child and parent measures, including children's physical activity levels and dietary practices and children's and parents' BMI. The Healthy Communities Study employs a complex study design that includes a diverse sample of communities across the country and combines current/cross-sectional and retrospective data (abstracted from children's medical records). This paper describes the rationale for the Healthy Communities Study, the study aims and logic model, and a brief overview of the study design. Published by Elsevier Inc.

  11. Treatment rationale of fractured posterior teeth.

    PubMed

    Silvestri, A R; Singh, I

    1978-11-01

    The four types of fractures most frequently encountered in posterior teeth--obliquely directed complete fractures, vertically directed complete fractures, obliquely directed incomplete fractures, and vertically directed incomplete fractures--have been described. A detailed treatment approach for each type has been presented.

  12. 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

  13. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

    PubMed

    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.

  14. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

    PubMed

    Synofzik, Matthis; Schüle, Rebecca; Schulze, Martin; Gburek-Augustat, Janina; Schweizer, Roland; Schirmacher, Anja; Krägeloh-Mann, Ingeborg; Gonzalez, Michael; Young, Peter; Züchner, Stephan; Schöls, Ludger; Bauer, Peter

    2014-04-17

    Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutations, and to assess their frequency in different Caucasian disease cohorts. 300 subjects with degenerative ataxia (n = 167) or spastic paraplegia (n = 133) were screened for STUB1 variants by whole-exome-sequencing (n = 204) or shotgun-fragment-library-sequencing (n = 96). To control for the specificity of STUB1 variants, we screened an additional 1707 exomes from 891 index families with other neurological diseases. We identified 3 ataxia patients (3/167 = 1.8%) with 4 novel missense mutations in STUB1, including 3 mutations in its tetratricopeptide-repeat domain. All patients showed evidence of pyramidal tract damage. Cognitive impairment was present only in one and hypogonadism in none of them. Ataxia did not start before age 48 years in one subject. No recessive STUB1 variants were identified in families with other neurological diseases, demonstrating that STUB1 variants are not simply rare polymorphisms ubiquitous in neurodegenerative disease. STUB1-disease occurs also in Caucasian ataxia populations (1.8%). Our results expand the genotypic spectrum of STUB1-disease, showing that pathogenic mutations affect also the tetratricopeptide-repeat domain, thus providing clinical evidence for the functional importance of this domain. Moreover, they further delineate the phenotypic core features of STUB1-ataxia. Pyramidal tract damage is a common accompanying feature and can include lower limb spasticity, thus adding STUB1-ataxia to the differential diagnosis of "spastic ataxias". However, STUB1 is rare in subjects with predominant spastic paraplegia (0/133). In contrast to previous reports, STUB1-ataxia can start even above age 40 years, and neither hypogonadism nor prominent cognitive

  15. Shoulder Strength and Physical Activity Predictors of Shoulder Pain in People With Paraplegia From Spinal Injury: Prospective Cohort Study.

    PubMed

    Mulroy, Sara J; Hatchett, Patricia; Eberly, Valerie J; Haubert, Lisa Lighthall; Conners, Sandy; Requejo, Philip S

    2015-07-01

    Shoulder joint pain is a frequent secondary complaint for people following spinal cord injury (SCI). The purpose of this study was to determine predictors of shoulder joint pain in people with paraplegia. A 3-year longitudinal study was conducted. Participants were people with paraplegia who used a manual wheelchair for at least 50% of their mobility and were asymptomatic for shoulder pain at study entry. Participants were classified as having developed shoulder pain if they experienced an increase of ≥10 points on the Wheelchair User's Shoulder Pain Index in the 3-year follow-up period. Measurements of maximal isometric shoulder torques were collected at study entry (baseline), 18 months, and 3 years. Daily activity was measured using a wheelchair odometer, and self-reported daily transfer and raise frequency data were collected by telephone every 6 weeks. Two hundred twenty-three participants were enrolled in the study; 39.8% developed shoulder pain over the 3-year follow-up period. Demographic variables and higher activity levels were not associated with shoulder pain onset. Baseline maximal isometric torque (normalized by body weight) in all shoulder muscle groups was 10% to 15% lower in participants who developed shoulder pain compared with those who remained pain-free. Lower shoulder adduction torque was a significant predictor of shoulder pain development (log-likelihood test=11.38), but the model explained only 7.5% of shoulder pain onset and consequently is of limited clinical utility. Time since SCI varied widely among participants, and transfer and raise activity was measured by participant recall. Participants who developed shoulder pain had decreased muscle strength, particularly in the shoulder adductors, and lower levels of physical activity prior to the onset of shoulder pain. Neither factor was a strong predictor of shoulder pain onset. © 2015 American Physical Therapy Association.

  16. Effects of prandial challenge on triglyceridemia, glycemia, and pro-inflammatory activity in persons with chronic paraplegia.

    PubMed

    Ellenbroek, Dennis; Kressler, Jochen; Cowan, Rachel E; Burns, Patricia A; Mendez, Armando J; Nash, Mark S

    2015-07-01

    Exaggerated postprandial lipemia has been reported after spinal cord injury (SCI). We examined metabolite and accompanying pro-inflammatory biomarker responses to repeat feeding of typical high-fat meals in individuals with chronic paraplegia. Descriptive trial. Metabolites (triglycerides, glucose, and insulin) and inflammatory biomarkers (interleukin-6 and high-sensitivity C-reactive protein (hsCRP)) were measured under fasting conditions in 11 recreationally active individuals with chronic (>1 year) paraplegia. Subjects received high-fat meals at time point 0 and again at minute 240. Antecubital venous blood was obtained at time points -30 (fasting), 0 (first meal), 30, 60, 90, 120, 240 (second meal), 360, and 480 minutes. Correlations were examined among the study variables. Exploratory subgroup analysis was performed for subjects with levels of postprandial glucose greater than >200 mg/dl. Triglycerides showed a significant rise 4 hours after eating. Basal inflammatory markers were elevated, and did not undergo additional change during the testing. Additionally, subjects with excessive postprandial glucose responses showed higher hsCRP levels than those having typical glucose responses both for fasting (11.8 ± 6.5 vs. 2.9 ± 2.7 mg/l, P = 0.064) and postprandial (11.1 ± 4.9 vs. 3.7 ± 3.8 mg/l, P = 0.018) values. Despite elevations in metabolic response markers, inflammatory markers did not change significantly after consumption of population-representative (i.e. hypercaloric) mixed-nutrient meals. Levels of fasting CRP in the high-risk range are consistent with other reports in persons with SCI and continue to pose concern for their cardiovascular disease risk. The possible association between postprandial metabolic responses and inflammatory states warrants further investigation to identify individual component risks for this secondary health hazard.

  17. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

    PubMed

    Diomedi, Marina; Gan-Or, Ziv; Placidi, Fabio; Dion, Patrick A; Szuto, Anna; Bengala, Mario; Rouleau, Guy A; Gigli, Gian Luigi

    2016-11-01

    Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated. Affected individuals presented with spastic paraplegia as a predominant symptom, with epilepsy and intellectual disability, inherited as an autosomal dominant trait with variable clinical presentation. While a novel variant of hereditary spastic paraplegia (HSP) was initially hypothesized in this family, previous linkage studies of known HSP genes did not identify the genetic cause. Exome-sequencing study identified a p.Arg126Cys mutation in the SLC2A1 gene, encoding GLUT1, which segregated with the affected members of the family. The diagnosis of GLUT1DS was further confirmed by cerebrospinal fluid analysis, and treatment was started with good initial response. The description of this large family provides further clinical information on this rare disease. It also offers an example of how GLUT1DS can be challenging to diagnose, and emphasizes the importance of lumbar puncture in the workflow of similar syndromes. Finally, it suggests that analysis of SLC2A1 should be considered in the diagnostic work up of HSP, especially if it is associated with epilepsy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  18. Shoulder Strength and Physical Activity Predictors of Shoulder Pain in People With Paraplegia From Spinal Injury: Prospective Cohort Study

    PubMed Central

    Hatchett, Patricia; Eberly, Valerie J.; Lighthall Haubert, Lisa; Conners, Sandy; Requejo, Philip S.

    2015-01-01

    Background Shoulder joint pain is a frequent secondary complaint for people following spinal cord injury (SCI). Objective The purpose of this study was to determine predictors of shoulder joint pain in people with paraplegia. Methods/Design A 3-year longitudinal study was conducted. Participants were people with paraplegia who used a manual wheelchair for at least 50% of their mobility and were asymptomatic for shoulder pain at study entry. Participants were classified as having developed shoulder pain if they experienced an increase of ≥10 points on the Wheelchair User's Shoulder Pain Index in the 3-year follow-up period. Measurements of maximal isometric shoulder torques were collected at study entry (baseline), 18 months, and 3 years. Daily activity was measured using a wheelchair odometer, and self-reported daily transfer and raise frequency data were collected by telephone every 6 weeks. Results Two hundred twenty-three participants were enrolled in the study; 39.8% developed shoulder pain over the 3-year follow-up period. Demographic variables and higher activity levels were not associated with shoulder pain onset. Baseline maximal isometric torque (normalized by body weight) in all shoulder muscle groups was 10% to 15% lower in participants who developed shoulder pain compared with those who remained pain-free. Lower shoulder adduction torque was a significant predictor of shoulder pain development (log-likelihood test=11.38), but the model explained only 7.5% of shoulder pain onset and consequently is of limited clinical utility. Limitations Time since SCI varied widely among participants, and transfer and raise activity was measured by participant recall. Conclusions Participants who developed shoulder pain had decreased muscle strength, particularly in the shoulder adductors, and lower levels of physical activity prior to the onset of shoulder pain. Neither factor was a strong predictor of shoulder pain onset. PMID:25721123

  19. The County Health Rankings: rationale and methods.

    PubMed

    Remington, Patrick L; Catlin, Bridget B; Gennuso, Keith P

    2015-01-01

    Annually since 2010, the University of Wisconsin Population Health Institute and the Robert Wood Johnson Foundation have produced the County Health Rankings-a "population health checkup" for the nation's over 3,000 counties. The purpose of this paper is to review the background and rationale for the Rankings, explain in detail the methods we use to create the health rankings in each state, and discuss the strengths and limitations associated with ranking the health of communities. We base the Rankings on a conceptual model of population health that includes both health outcomes (mortality and morbidity) and health factors (health behaviors, clinical care, social and economic factors, and the physical environment). Data for over 30 measures available at the county level are assembled from a number of national sources. Z-scores are calculated for each measure, multiplied by their assigned weights, and summed to create composite measure scores. Composite scores are then ordered and counties are ranked from best to worst health within each state. Health outcomes and related health factors vary significantly within states, with over two-fold differences between the least healthy counties versus the healthiest counties for measures such as premature mortality, teen birth rates, and percent of children living in poverty. Ranking within each state depicts disparities that are not apparent when counties are ranked across the entire nation. The County Health Rankings can be used to clearly demonstrate differences in health by place, raise awareness of the many factors that influence health, and stimulate community health improvement efforts. The Rankings draws upon the human instinct to compete by facilitating comparisons between neighboring or peer counties within states. Since no population health model, or rankings based off such models, will ever perfectly describe the health of its population, we encourage users to look to local sources of data to understand more about

  20. Climate Model Ensemble Methodology: Rationale and Challenges

    NASA Astrophysics Data System (ADS)

    Vezer, M. A.; Myrvold, W.

    2012-12-01

    A tractable model of the Earth's atmosphere, or, indeed, any large, complex system, is inevitably unrealistic in a variety of ways. This will have an effect on the model's output. Nonetheless, we want to be able to rely on certain features of the model's output in studies aiming to detect, attribute, and project climate change. For this, we need assurance that these features reflect the target system, and are not artifacts of the unrealistic assumptions that go into the model. One technique for overcoming these limitations is to study ensembles of models which employ different simplifying assumptions and different methods of modelling. One then either takes as reliable certain outputs on which models in the ensemble agree, or takes the average of these outputs as the best estimate. Since the Intergovernmental Panel on Climate Change's Fourth Assessment Report (IPCC AR4) modellers have aimed to improve ensemble analysis by developing techniques to account for dependencies among models, and to ascribe unequal weights to models according to their performance. The goal of this paper is to present as clearly and cogently as possible the rationale for climate model ensemble methodology, the motivation of modellers to account for model dependencies, and their efforts to ascribe unequal weights to models. The method of our analysis is as follows. We will consider a simpler, well-understood case of taking the mean of a number of measurements of some quantity. Contrary to what is sometimes said, it is not a requirement of this practice that the errors of the component measurements be independent; one must, however, compensate for any lack of independence. We will also extend the usual accounts to include cases of unknown systematic error. We draw parallels between this simpler illustration and the more complex example of climate model ensembles, detailing how ensembles can provide more useful information than any of their constituent models. This account emphasizes the

  1. The West Midlands Bladder Cancer Prognosis Programme: rationale and design.

    PubMed

    Zeegers, Maurice P; Bryan, Richard T; Langford, Carolyn; Billingham, Lucinda; Murray, Paul; Deshmukh, Neeta S; Hussain, Syed; James, Nick; Wallace, D Michael A; Cheng, K K

    2010-03-01

    OBJECTIVE To describe the rationale and design of the Bladder Cancer Prognosis Programme (BCPP), and to demonstrate the capability of this design. METHODS There is a need to understand the determinants of bladder cancer to help reduce recurrence, progression, morbidity, mortality and related costs. We previously showed that lifestyle factors are important for determining the risk of bladder cancer, but little is known about their importance in determining the risk of recurrence or progression after diagnosis. Also, histopathological factors alone provide only crude prognostication; the analysis of molecular markers represents a method for refinement but research in this area has not been useful in informing therapeutic decisions or prognostication. The BCPP is a prospective longitudinal cohort study of all patients with newly diagnosed bladder cancer within the West Midlands (UK), investigating the influence of lifestyle factors on recurrence and progression, health-related quality of life, the predictive effect of a panel of molecular markers on recurrence or progression, and the establishment of Europe's largest comprehensive bladder cancer bio-repository. It also incorporates the first randomized clinical trial on the efficacy of selenium and vitamin E on bladder cancer. The numbers and proportions of eligible patients recruited, questionnaires completed and specimens obtained were all recorded. RESULTS Since December 2005, 771 patients have been recruited (68% of eligible patients) and of these, 331 are currently being followed up by questionnaires. We have obtained blood, urine and tumour tissues from 92%, 80% and 80% of patients, respectively. CONCLUSIONS The design of the BCPP has allowed this study to be incorporated into routine clinical work throughout the West Midlands, achieving high levels of recruitment, and data and specimen collection. This might represent a model for the future investigation of urological and other malignancies.

  2. Weightlifting pulling derivatives: rationale for implementation and application.

    PubMed

    Suchomel, Timothy J; Comfort, Paul; Stone, Michael H

    2015-06-01

    This review article examines previous weightlifting literature and provides a rationale for the use of weightlifting pulling derivatives that eliminate the catch phase for athletes who are not competitive weightlifters. Practitioners should emphasize the completion of the triple extension movement during the second pull phase that is characteristic of weightlifting movements as this is likely to have the greatest transference to athletic performance that is dependent on hip, knee, and ankle extension. The clean pull, snatch pull, hang high pull, jump shrug, and mid-thigh pull are weightlifting pulling derivatives that can be used in the teaching progression of the full weightlifting movements and are thus less complex with regard to exercise technique. Previous literature suggests that the clean pull, snatch pull, hang high pull, jump shrug, and mid-thigh pull may provide a training stimulus that is as good as, if not better than, weightlifting movements that include the catch phase. Weightlifting pulling derivatives can be implemented throughout the training year, but an emphasis and de-emphasis should be used in order to meet the goals of particular training phases. When implementing weightlifting pulling derivatives, athletes must make a maximum effort, understand that pulling derivatives can be used for both technique work and building strength-power characteristics, and be coached with proper exercise technique. Future research should consider examining the effect of various loads on kinetic and kinematic characteristics of weightlifting pulling derivatives, training with full weightlifting movements as compared to training with weightlifting pulling derivatives, and how kinetic and kinematic variables vary between derivatives of the snatch.

  3. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

    PubMed

    Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schöls, Ludger; Brice, Alexis; Hübner, Christian A; Beetz, Christian

    2015-11-16

    The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires an understanding of the mechanism by which mutations confer pathogenicity. SPG8 is a dominantly inherited HSP, and associated with rather early onset and rapid progression. A total of nine mutations in KIAA0196, which encodes the WASH regulatory complex (SHRC) member strumpellin, have been reported in SPG8 patients so far. Based on biochemical and cell biological approaches, they have been suggested to act via loss of function-mediated haploinsufficiency. We generated a deletion-based knockout allele for E430025E21Rik, i.e. the murine homologue of KIAA0196. The consequences on mRNA and protein levels were analyzed by qPCR and Western-blotting, respectively. Motor performance was evaluated by the foot-base angle paradigm. Axon outgrowth and relevant organelle compartments were investigated in primary neuron cultures and primary fibroblast cultures, respectively. A homemade multiplex ligation-dependent probe amplification assay enabling identification of large inactivating KIAA0196 deletion alleles was applied to DNA from 240 HSP index patients. Homozygous but not heterozygous mice showed early embryonic lethality. No transcripts from the knockout allele were detected, and the previously suggested compensation by the wild-type allele upon heterozygosity was disproven. mRNA expression of genes encoding other SHRC members was unaltered, while there was evidence for reduced SHRC abundance at protein level. We did, however, neither observe HSP-related in vivo and ex vivo phenotypes, nor alterations affecting endosomal, lysosomal, or autophagic compartments. KIAA0196 copy number screening excluded large inactivating deletion mutations in HSP patients. The consequences of monoallelic KIAA0196/E430025E21Rik activation thus differ from those observed for dominant HSP

  4. 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.; Jones, M.

    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.

  5. [The medical rationale category and a new epistemology in health].

    PubMed

    do Nascimento, Marilene Cabral; de Barros, Nelson Filice; Nogueira, Maria Inês; Luz, Madel Therezinha

    2013-12-01

    This article is an analytical report on the 20-year trajectory of the 'medical rationale' category that emerged in the early 1990s in the area of Social and Human Sciences in Health in the field of Public Health. Its objective was to study complex and therapeutic medical systems and traditional, complementary and alternative medicines. Based on a critical review of the literature, it presents some aspects of the cultural, political, institutional and social context of its emergence, as well as its main contributions and developments on a theoretical level and on social policies and practices in health. The southern epistemology concept of Boaventura de Sousa Santos is used to reflect upon the contribution of the 'medical rationale' category to the critique of the post-modern scientific rationale and to the creation of a new epistemology in health.

  6. Rationale-Augmented Convolutional Neural Networks for Text Classification

    PubMed Central

    Zhang, Ye; Marshall, Iain; Wallace, Byron C.

    2016-01-01

    We present a new Convolutional Neural Network (CNN) model for text classification that jointly exploits labels on documents and their constituent sentences. Specifically, we consider scenarios in which annotators explicitly mark sentences (or snippets) that support their overall document categorization, i.e., they provide rationales. Our model exploits such supervision via a hierarchical approach in which each document is represented by a linear combination of the vector representations of its component sentences. We propose a sentence-level convolutional model that estimates the probability that a given sentence is a rationale, and we then scale the contribution of each sentence to the aggregate document representation in proportion to these estimates. Experiments on five classification datasets that have document labels and associated rationales demonstrate that our approach consistently outperforms strong baselines. Moreover, our model naturally provides explanations for its predictions. PMID:28191551

  7. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

    PubMed Central

    2014-01-01

    Background Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutations, and to assess their frequency in different Caucasian disease cohorts. Methods 300 subjects with degenerative ataxia (n = 167) or spastic paraplegia (n = 133) were screened for STUB1 variants by whole-exome-sequencing (n = 204) or shotgun-fragment-library-sequencing (n = 96). To control for the specificity of STUB1 variants, we screened an additional 1707 exomes from 891 index families with other neurological diseases. Results We identified 3 ataxia patients (3/167 = 1.8%) with 4 novel missense mutations in STUB1, including 3 mutations in its tetratricopeptide-repeat domain. All patients showed evidence of pyramidal tract damage. Cognitive impairment was present only in one and hypogonadism in none of them. Ataxia did not start before age 48 years in one subject. No recessive STUB1 variants were identified in families with other neurological diseases, demonstrating that STUB1 variants are not simply rare polymorphisms ubiquitous in neurodegenerative disease. Conclusions STUB1-disease occurs also in Caucasian ataxia populations (1.8%). Our results expand the genotypic spectrum of STUB1-disease, showing that pathogenic mutations affect also the tetratricopeptide-repeat domain, thus providing clinical evidence for the functional importance of this domain. Moreover, they further delineate the phenotypic core features of STUB1-ataxia. Pyramidal tract damage is a common accompanying feature and can include lower limb spasticity, thus adding STUB1-ataxia to the differential diagnosis of “spastic ataxias”. However, STUB1 is rare in subjects with predominant spastic paraplegia (0/133). In contrast to previous reports, STUB1-ataxia can start even above age 40

  8. Effects of prandial challenge on triglyceridemia, glycemia, and pro-inflammatory activity in persons with chronic paraplegia

    PubMed Central

    Ellenbroek, Dennis; Kressler, Jochen; Cowan, Rachel E.; Burns, Patricia A.; Mendez, Armando J.; Nash, Mark S.

    2015-01-01

    Context/Objective Exaggerated postprandial lipemia has been reported after spinal cord injury (SCI). We examined metabolite and accompanying pro-inflammatory biomarker responses to repeat feeding of typical high-fat meals in individuals with chronic paraplegia. Design Descriptive trial. Methods Metabolites (triglycerides, glucose, and insulin) and inflammatory biomarkers (interleukin-6 and high-sensitivity C-reactive protein (hsCRP)) were measured under fasting conditions in 11 recreationally active individuals with chronic (>1 year) paraplegia. Subjects received high-fat meals at time point 0 and again at minute 240. Antecubital venous blood was obtained at time points −30 (fasting), 0 (first meal), 30, 60, 90, 120, 240 (second meal), 360, and 480 minutes. Correlations were examined among the study variables. Exploratory subgroup analysis was performed for subjects with levels of postprandial glucose greater than >200 mg/dl. Results Triglycerides showed a significant rise 4 hours after eating. Basal inflammatory markers were elevated, and did not undergo additional change during the testing. Additionally, subjects with excessive postprandial glucose responses showed higher hsCRP levels than those having typical glucose responses both for fasting (11.8 ± 6.5 vs. 2.9 ± 2.7 mg/l, P = 0.064) and postprandial (11.1 ± 4.9 vs. 3.7 ± 3.8 mg/l, P = 0.018) values. Conclusions Despite elevations in metabolic response markers, inflammatory markers did not change significantly after consumption of population-representative (i.e. hypercaloric) mixed-nutrient meals. Levels of fasting CRP in the high-risk range are consistent with other reports in persons with SCI and continue to pose concern for their cardiovascular disease risk. The possible association between postprandial metabolic responses and inflammatory states warrants further investigation to identify individual component risks for this secondary health hazard. PMID:24617559

  9. Comparison of kinematics, kinetics, and EMG throughout wheelchair propulsion in able-bodied and persons with paraplegia: an integrative approach.

    PubMed

    Dubowsky, Sarah R; Sisto, Sue Ann; Langrana, Noshir A

    2009-02-01

    A systematic integrated data collection and analysis of kinematic, kinetic, and electromyography (EMG) data allow for the comparison of differences in wheelchair propulsion between able-bodied individuals and persons with paraplegia. Kinematic data from a motion analysis system, kinetic data from force-sensing push rims, and electromyography data from four upper-limb muscles were collected for ten push strokes. Results are as follows: Individuals with paraplegia use a greater percentage of their posterior deltoids, biceps, and triceps in relation to maximal voluntary contraction. These persons also reached peak anterior deltoid firing nearly 10 deg earlier on the push rim, while reaching peak posterior deltoid nearly 10 deg later on the push rim. Able-bodied individuals had no triceps activity in the initial stages of propulsion while their paraplegic groups had activity throughout. Able-bodied participants also had, on average, peak resultant, tangential, and radial forces occurring later on the push rim (in degrees). There are two main conclusions that can be drawn from this integrative investigation: (1) A greater "muscle energy," as measured by the area under the curve of the percentage of EMG throughout propulsion, results in a greater resultant joint force in the shoulder and elbow, thus potentially resulting in shoulder pathology. (2) Similarly, a greater muscle energy may result in fatigue and play a factor in the development of shoulder pain and pathology over time; fatigue may compromise an effective propulsive stroke placing undue stresses on the joint capsule. Muscle activity differences may be responsible for the observed kinematic and kinetic differences between the two groups. The high incidence of shoulder pain in manual wheelchair users as compared to the general population may be the result of such differences, although the results from this biomedical investigation should be examined with caution. Future research into joint forces may shed light

  10. Africa South of the Sahara, Rationale and Introduction: An Experimental Program of Study for Secondary School Social Studies Students. Teaching Guide.

    ERIC Educational Resources Information Center

    Carnegie-Mellon Univ., Pittsburgh, PA. Project Africa.

    The articulation of a rationale for Project Africa's instructional program, the collection of materials for improving inquiry-oriented instruction at the secondary level about Africa south of the Sahara, and the preparation of teaching and study guides have been completed. This geographic region, rather than the whole continent, was chosen to…

  11. Angioplasty and Stenting for Atherosclerotic Intracranial Stenosis: Rationale for a Randomized Clinical Trial

    PubMed Central

    Derdeyn, Colin P.; Chimowitz, Marc I.

    2007-01-01

    Synopsis Atherosclerotic disease of the major intracranial arteries is a frequent cause of stroke. In addition, many patients with symptomatic intracranial stenosis are at very high risk for recurrent stroke. A recently completed medical treatment trial, the Warfarin versus Aspirin for Symptomatic Intracranial Stenosis (WASID) trial, showed that aspirin was as effective and safer than warfarin for preventing stroke or vascular death in these patients, and that patients with 70%-99% intracranial stenosis are at particularly high risk of stroke despite antithrombotic therapy and usual management of vascular risk factors. Preliminary studies suggest that angioplasty and stenting may reduce the risk of stroke in patients with severe stenosis of intracranial arteries. However, data for angioplasty and stenting consists of case series: no randomized studies have been completed to date. These data will be reviewed and the rationale for a randomized trial of angioplasty and stenting versus best medical management for patients with symptomatic intracranial stenosis will be discussed. PMID:17826637

  12. [When a patient falls (asleep) and can't get up: conversion disorder - Paraplegia following general anesthesia].

    PubMed

    Mason, Chawla LaToya

    2016-09-19

    This case report describes the rare occurrence of paraplegia caused by conversion disorder in a woman who received general anesthesia for breast surgery. A 46-year-old healthy woman received general anesthesia for excision of a left breast fibroepithelial lesion. In the post-anesthesia care unit, she reported bilateral loss of both sensation and motor function below the knees. Physical signs and symptoms did not correlate with any anatomical or neurological patterns; imaging revealed no abnormalities. Psychiatric consultation was performed wherein familial stressor circumstances were identified, leading to diagnosis and management of conversion disorder. Conversion disorder is characterized by alteration of physical function due to expression of an underlying psychological ailment. Its diagnosis requires thorough evaluation including appropriate workup to exclude organic causes. The meshing together of anesthesiology and psychiatry - as demonstrated by this case report - offers an opportunity to highlight important information pertaining to the definition, diagnosis, and management of conversion disorder as it may be encountered in the postanesthesia recovery period. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  13. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

    PubMed

    Musacchio, Thomas; Zaum, Ann-Kathrin; Üçeyler, Nurcan; Sommer, Claudia; Pfeifroth, Nora; Reiners, Karlheinz; Kunstmann, Erdmute; Volkmann, Jens; Rost, Simone; Klebe, Stephan

    2017-01-01

    Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenotype ranging from subclinical signs to a severe and rapidly progressing amyotrophic lateral sclerosis (ALS)-like phenotype. For molecular diagnosis of the family, we used the TruSight Exome sequencing panel consisting of 2761 genes. We filtered for variants common to affected family members and for exclusive variants in the ALS-like index patient to find possible modifier mutations. We found that de novo mutations and/or incomplete penetrance in BSCL2 has been taken into account for Silver syndrome/SPG17 and confirm the large phenotypical heterogeneity of BSCL2 mutations. Our findings broaden the reported spectrum of the disease to an ALS-like and multifocal motor neuropathy phenotype and underline the need for further research for genetic modifiers due to the striking interindividual and intrafamilial variability.

  14. Endogenous spar tin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons

    SciTech Connect

    Robay, Dimitri; Patel, Heema; Simpson, Michael A.; Brown, Nigel A.; Crosby, Andrew H. . E-mail: acrosby@sgul.ac.uk

    2006-09-10

    Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons. Using a polyclonal antibody against spartin to gain insight into the function of the endogenous molecule, we show that the endogenous molecule is present in two main isoforms of 85 kDa and 100 kDa, and 75 kDa and 85 kDa in human and murine, respectively, with restricted subcellular localization. Immunohistochemical studies on human and mouse embryo sections and in vitro cell studies indicate that spartin is likely to possess both nuclear and cytoplasmic functions. The nuclear expression of spartin closely mirrors that of the snRNP (small nuclear ribonucleoprotein) marker {alpha}-Sm, a component of the spliceosome. Spartin is also enriched at the centrosome within mitotic structures. Notably we show that spartin protein undergoes dynamic positional changes in differentiating human SH-SY5Y cells. In undifferentiated non-neuronal cells, spartin displays a nuclear and diffuse cytosolic profile, whereas spartin transiently accumulates in the trans-Golgi network and subsequently decorates discrete puncta along neurites in terminally differentiated neuroblastic cells. Investigation of these spartin-positive vesicles reveals that a large proportion colocalizes with the synaptic vesicle marker synaptotagmin. Spartin is also enriched in synaptic-like structures and in synaptic vesicle-enriched fraction.

  15. Cervical cord injury in patients with ankylosed spines: progressive paraplegia in two patients after posterior fusion without decompression.

    PubMed

    Sugimoto, Yoshihisa; Ito, Yasuo; Tanaka, Masato; Tomioka, Masao; Hasegawa, Yasuhiro; Nakago, Kie; Yagata, Yukihisa; Ozaki, Toshifumi

    2009-11-01

    Case report and clinical discussion. To describe technical pitfall to treat 2 cervical cord injuries, including dislocations in patients with ankylosed spine due to diffuse idiopathic skeletal hyperostosis (DISH) or ossification of the posterior longitudinal ligament (OPLL). DISH and OPLL are disease processes similar in pathology, which can lead to unexpected fractures due to low-energy trauma. In reported cases of fracture of the ankylosed spine in patients with DISH or OPLL, increasing lever arm and a grossly unstable fracture occurred. However, the actual surgical intervention for these fractures and spinal cord injuries was not discussed. We report 2 cervical cord injuries, including dislocations in patients with ankylosed spine due to DISH or OPLL. Two patients underwent posterior fusion without decompression; however, postoperative progressive paraplegia still occurred. There were 3 points in common: these patients had ankylosed spines due to DISH or OPLL; they were elderly and had spinal canal stenosis; and after undergoing posterior fusion without decompression, their bilateral, lower extremity palsies worsened after surgery. Cervical alignment was slightly different after posterior fusion, and this change concentrated in one segment because adjacent vertebral bodies were ankylosed, and thus, immoveable. Additionally, this stress caused infolding of the ligamentum flavum with resultant spinal cord compression. In these cases, we recommend posterior fusion and decompression such as laminoplasty to avoid worsening palsy.

  16. Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.

    PubMed

    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.

  17. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    PubMed Central

    Dias, Cristina; Sincan, Murat; Cherukuri, Praveen F.; Rupps, Rosemarie; Huang, Yan; Briemberg, Hannah; Selby, Kathryn; Mullikin, James C.; Markello, Thomas C.; Adams, David R.; Gahl, William A.; Boerkoel, Cornelius F.

    2012-01-01

    In this study we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Since ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing-coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG). We used three exome-capture kits on 125 individuals. Exons constituting each gene were defined using the UCSC and CCDS databases. The three exome-capture kits targeted 47–92% of bases within the UCSC-defined exons, and 97%–99% of bases within the CCDS-defined exons. An average of 61.2–99.5% and 19.1–99.5% of targeted bases per gene were sequenced to 20X coverage within the CCDS-defined MD and SPG coding exons, respectively. Greater than 95–99% of targeted known mutation positions were sequenced to ≥1X coverage and 55–87% to ≥20X coverage in every exome. We conclude therefore that ES is a rapid and efficient first tier method to screen for mutations, particularly within the CCDS annotated exons, although its application requires disclosure of the extent of coverage for each targeted gene and supplementation with second tier Sanger sequencing for full coverage. PMID:22311686

  18. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

    PubMed

    Ozes, B; Karagoz, N; Schüle, R; Rebelo, A; Sobrido, M-J; Harmuth, F; Synofzik, M; Pascual, S I P; Colak, M; Ciftci-Kavaklioglu, B; Kara, B; Ordóñez-Ugalde, A; Quintáns, B; Gonzalez, M A; Soysal, A; Zuchner, S; Battaloglu, E

    2017-03-13

    PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. 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

  20. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

    PubMed

    Kaji, Seiji; Kawarai, Toshitaka; Miyamoto, Ryosuke; Nodera, Hiroyuki; Pedace, Lucia; Orlacchio, Antonio; Izumi, Yuishin; Takahashi, Ryosuke; Kaji, Ryuji

    2016-05-15

    Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS.

  1. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

    PubMed

    Lossos, Alexander; Teltsh, Omri; Milman, Tsipi; Meiner, Vardiella; Rozen, Rima; Leclerc, Daniel; Schwahn, Bernd C; Karp, Natalya; Rosenblatt, David S; Watkins, David; Shaag, Avraham; Korman, Stanley H; Heyman, Samuel N; Gal, Aya; Newman, J P; Steiner-Birmanns, Bettina; Abramsky, Oded; Kohn, Yoav

    2014-07-01

    Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially responsive to betaine therapy. Both pairs of siblings presented with a similar combination of progressive spastic paraparesis and polyneuropathy, variably associated with behavioral changes, cognitive impairment, psychosis, seizures, and leukoencephalopathy, beginning between the ages of 29 and 50 years. By the time of diagnosis a decade later, 3 patients were ambulatory and 1 was bedridden. Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutation in the other family. Treatment with betaine produced a rapid decline of homocysteine by 50% to 70% in all 4 patients and, over 9 to 15 years, improved the conditions of the 3 ambulatory patients. Although severe MTHFR deficiency is a rare cause of complicated spastic paraparesis in adults, it should be considered in select patients because of the potential therapeutic benefit of betaine supplementation.

  2. Quality of life and self-esteem of persons with paraplegia living in São Paulo, Brazil.

    PubMed

    Blanes, Leila; Carmagnani, Maria Isabel S; Ferreira, Lydia M

    2009-02-01

    To evaluate the quality of life (QoL) and self-esteem of paraplegic persons. The sample consisted of 60 outpatients with traumatic paraplegia living in São Paulo, Brazil, from whom clinical and demographic data were obtained. QoL was assessed by the 36-item Short-Form (SF-36) health survey questionnaire, and self-esteem was measured by Rosenberg's Self-Esteem (RSE) scale. Statistical analysis was performed using Student's t-test, analysis of variance and Fisher's least significant difference (LSD) test at a significance level of 5%. Participants were predominately men (86.7%) with a mean age of 32.9 (standard deviation [SD] = 9.47) years, low education level and low income. The SF-36 dimensions that received the lowest scores were physical functioning, role physical and role emotional. Cronbach's alpha for the SF-36 questionnaire was 0.80. A significant statistical difference was found between the presence of pressure ulcers and low scores on mental health (P = 0.001), as determined by Student's t-test. The mean self-esteem score was 8.35 and there was a significant statistical difference between low self-esteem scores and occupation (P = 0.008). Participants reported low QoL and self-esteem. The results provide background information that may be useful in the development of strategies to reduce the impact of spinal cord injury (SCI) on the life and health of persons with SCI, improving their QoL.

  3. Rationale for Antioxidant Supplementation in Sarcopenia

    PubMed Central

    Cerullo, Francesco; Gambassi, Giovanni; Cesari, Matteo

    2012-01-01

    Sarcopenia is an age-related clinical condition characterized by the progressive loss of motor units and wasting of muscle fibers resulting in decreased muscle function. The molecular mechanisms leading to sarcopenia are not completely identified, but the increased oxidative damage occurring in muscle cells during the course of aging represents one of the most accepted underlying pathways. In fact, skeletal muscle is a highly oxygenated tissue and the generation of reactive oxygen species is particularly enhanced in both contracting and at rest conditions. It has been suggested that oral antioxidant supplementation may contribute at reducing indices of oxidative stress both in animal and human models by reinforcing the natural endogenous defenses. Aim of the present paper is to discuss present evidence related to possible benefits of oral antioxidants in the prevention and treatment of sarcopenia. PMID:22292119

  4. Child Development and Social Studies Curriculum Design: Toward a Rationale.

    ERIC Educational Resources Information Center

    Knox, Gary A.

    This paper is a working draft of a study which has examined the accumulated research on child growth and development. The draft is designed as an input paper to enable the Marin Social Studies Project to refine its rationale and criteria for a recommended K-12 social studies program of curriculum options. Identification of the capabilities of…

  5. Building "Applied Linguistic Historiography": Rationale, Scope, and Methods

    ERIC Educational Resources Information Center

    Smith, Richard

    2016-01-01

    In this article I argue for the establishment of "Applied Linguistic Historiography" (ALH), that is, a new domain of enquiry within applied linguistics involving a rigorous, scholarly, and self-reflexive approach to historical research. Considering issues of rationale, scope, and methods in turn, I provide reasons why ALH is needed and…

  6. Invitation to the Birthday Party: Rationale and Description

    ERIC Educational Resources Information Center

    Ginsburg, Herbert P.; Pappas, Sandra

    2016-01-01

    Educators in many countries around the world have a strong interest in improving early childhood mathematics education, one component of which is formative assessment. Unlike summative assessment, this approach can provide teachers with information useful for understanding and teaching individual children. This paper describes the rationale for…

  7. "ComPost": A Writing Program Newsletter and Its Rationale.

    ERIC Educational Resources Information Center

    Hall, Dennis R.

    1993-01-01

    Discusses the development and rationale of "ComPost," a weekly newsletter of the Composition Program at the University of Louisville. Suggests that a vehicle like ComPost can promote the communications that contribute to accomplishing collegiality and genuine program consensus. (RS)

  8. Meta-case based realization of design rationale management systems

    SciTech Connect

    Paul, G.

    1996-12-31

    System design is an iterative, creative, and cooperative process where informal ideas are transformed into a detailed definition of how a system can be implemented. Design rationale aims at capturing and preserving the why underlying the what, the argument behind the artifact in the design process. Recording deliberations of the design process therefore promises benefits for the overall system engineering life cycle. Providing adequate computer support for design rationale is an interesting issue and a real need for effective application. A design rationale management system (DRMS) supports the capturing, storing and retrieval of interaction rationale in a shared corporate knowledge base and allows organizational learning through long-term and inter-project reuse. The intent of meta-CASE systems is to capture the specification of a required CASE tool and then generate the tool for actual production from the specification. In this paper we identify the requirements for a DRMS and investigate the applicability of meta-CASE tools for the implementation of DRMS`s. Furthermore we describe the experiences gained in the development of two DRMS`s adopting the meta CASE tools MaestroII GED/TCI and Hardy.

  9. Strength Training. Rationale for Current Guidelines for Adult Fitness Programs.

    ERIC Educational Resources Information Center

    Feigenbaum, Matthew S.; Pollock, Michael L.

    1997-01-01

    Strength training is an effective method of developing musculoskeletal strength and is often prescribed for fitness, health, and for prevention and rehabilitation of orthopedic injuries. This paper describes and presents a rationale for the population-specific strength training guidelines established by major health organizations. (SM)

  10. Framing Involvement: Rationale Construction in an Interorganisational Collaboration

    ERIC Educational Resources Information Center

    Siegel, David J.

    2008-01-01

    An analysis of the different rationales articulated and utilized by partners in an interorganizational collaboration is the focus of this paper. The Leadership Education and Development (LEAD) Program in Business is an initiative involving 12 US universities, nearly 40 multinational corporations, a federal government agency, and a non-profit…

  11. Oral Health Promotion in Schools: Rationale and Evaluation

    ERIC Educational Resources Information Center

    Kizito, Alex; Caitlin, Meredith; Wang, Yili; Kasangaki, Arabat; Macnab, Andrew J.

    2014-01-01

    Purpose: The purpose of this paper is to explain the rationale and potential for the WHO health promoting schools (HPS) to improve children's oral health, and describe validated quantitative methodologies and qualitative approaches to measure program impact. Design/Methodology/Approach: Critical discussion of the impact of poor oral health and…

  12. Karl Popper and Jean Piaget: A Rationale for Constructivism

    ERIC Educational Resources Information Center

    Harlow, Steve; Cummings, Rhoda; Aberasturi, Suzanne M.

    2006-01-01

    The current faddish use of the term constructivism has taken on as many different definitions as the number of people attempting to define it. This essay clarifies the meaning of constructivism through an examination of Karl Popper's and Jean Piaget's theories. The authors provide a rationale for the use of Popper's paradigm of "Three Worlds" and…

  13. Rationale of Early Adopters of Fossil Fuel Divestment

    ERIC Educational Resources Information Center

    Beer, Christopher Todd

    2016-01-01

    Purpose: This research uses the social science perspectives of institutions, ecological modernization and social movements to analyze the rationale used by the early-adopting universities of fossil fuel divestment in the USA. Design/methodology/approach: Through analysis of qualitative data from interviews with key actors at the universities that…

  14. Invitation to the Birthday Party: Rationale and Description

    ERIC Educational Resources Information Center

    Ginsburg, Herbert P.; Pappas, Sandra

    2016-01-01

    Educators in many countries around the world have a strong interest in improving early childhood mathematics education, one component of which is formative assessment. Unlike summative assessment, this approach can provide teachers with information useful for understanding and teaching individual children. This paper describes the rationale for…

  15. A Rationale for Mixed Methods (Integrative) Research Programmes in Education

    ERIC Educational Resources Information Center

    Niaz, Mansoor

    2008-01-01

    Recent research shows that research programmes (quantitative, qualitative and mixed) in education are not displaced (as suggested by Kuhn) but rather lead to integration. The objective of this study is to present a rationale for mixed methods (integrative) research programs based on contemporary philosophy of science (Lakatos, Giere, Cartwright,…

  16. Language Awareness Surveys: A Rationale and Three Instruments.

    ERIC Educational Resources Information Center

    Belanger, Joe

    Noting that language study (one leg of the traditional English tripod of language, literature, and composition) has received mixed attention internationally and is almost forgotten in North America, this paper presents a rationale for researching language awareness and three instruments that can be used in such research. The paper begins with…

  17. Rationale for Incorporating Health and Safety into the Curriculum.

    ERIC Educational Resources Information Center

    Fleischman, Marvin

    1988-01-01

    Presents a philosophical commentary on the need and rationale for incorporating safety and health into the chemical engineering curriculum. Proposes safety and health assessments as useful teaching methods. Describes an approach to bringing safety and health into undergraduate engineering curricula. Gives examples of integration of these curricula…

  18. Meeting a Moral Imperative: A Rationale for Teaching the Holocaust

    ERIC Educational Resources Information Center

    Lindquist, David H.

    2011-01-01

    A primary rationale for studying the Holocaust (Shoah) involves the opportunity to consider the moral implications that can be drawn from examining the event. Studying the Shoah forces students to consider what it means to be human and humane by examining the full continuum of individual behavior, from "ultimate evil" to "ultimate good". This…

  19. A Rationale for Use of "Grendel" in the High School.

    ERIC Educational Resources Information Center

    Burress, Lee

    In providing a rationale for the use of "Grendel" in high school English classes, this paper presents explanatory material demonstrating its appropriateness, beginning with a discussion of "Grendel" as part of a course in major or contemporary works of literature. The second section of the paper illustrates the use of the novel…

  20. Framing Involvement: Rationale Construction in an Interorganisational Collaboration

    ERIC Educational Resources Information Center

    Siegel, David J.

    2008-01-01

    An analysis of the different rationales articulated and utilized by partners in an interorganizational collaboration is the focus of this paper. The Leadership Education and Development (LEAD) Program in Business is an initiative involving 12 US universities, nearly 40 multinational corporations, a federal government agency, and a non-profit…

  1. Building "Applied Linguistic Historiography": Rationale, Scope, and Methods

    ERIC Educational Resources Information Center

    Smith, Richard

    2016-01-01

    In this article I argue for the establishment of "Applied Linguistic Historiography" (ALH), that is, a new domain of enquiry within applied linguistics involving a rigorous, scholarly, and self-reflexive approach to historical research. Considering issues of rationale, scope, and methods in turn, I provide reasons why ALH is needed and…

  2. Talent Search: Purposes, Rationale, and Role in Gifted Education.

    ERIC Educational Resources Information Center

    Olszewski-Kubilius, Paula

    1998-01-01

    This paper describes the purpose and rationale of a "talent search" effort to identify gifted students through use of off-level testing. Three components are stressed: diagnosis and evaluation of domains and levels of talent; educational placement and guidance; and talent development opportunities. Research supporting the talent-search…

  3. Learner-Controlled Computing: A Description and Rationale.

    ERIC Educational Resources Information Center

    Milner, Stuart

    Learner controlled instruction in which the student controls the computer (e.g., computer programing) instead of it controlling the student (e.g., drill-and-drill-and-practice) is described. The nature of this mode of computer use is explored, and some examples based on case studies conducted by the author are given. A rationale for learner…

  4. Social Stories[TM]: A Possible Theoretical Rationale

    ERIC Educational Resources Information Center

    Reynhout, Georgina; Carter, Mark

    2011-01-01

    Social Stories[TM] are an intervention widely used with individuals with autism spectrum disorders (ASD). This paper discusses a possible theoretical rationale that might account for the purported efficacy of Social Stories[TM]. Attributes of individuals with ASD in relation to Social Story intervention including difficulties with theory of mind…

  5. What Is Implementation Research? Rationale, Concepts, and Practices

    ERIC Educational Resources Information Center

    Bhattacharyya, Onil; Reeves, Scott; Zwarenstein, Merrick

    2009-01-01

    Despite the growing knowledge base on evidence-based practices in social work and medicine, there is a large gap between what is known and what is consistently done. Implementation research is the study of methods to promote the uptake of research findings into routine practice. In this article, we describe the rationale for implementation…

  6. Logistic Approximation to the Normal: The KL Rationale

    ERIC Educational Resources Information Center

    Savalei, Victoria

    2006-01-01

    A rationale is proposed for approximating the normal distribution with a logistic distribution using a scaling constant based on minimizing the Kullback-Leibler (KL) information, that is, the expected amount of information available in a sample to distinguish between two competing distributions using a likelihood ratio (LR) test, assuming one of…

  7. Social Stories[TM]: A Possible Theoretical Rationale

    ERIC Educational Resources Information Center

    Reynhout, Georgina; Carter, Mark

    2011-01-01

    Social Stories[TM] are an intervention widely used with individuals with autism spectrum disorders (ASD). This paper discusses a possible theoretical rationale that might account for the purported efficacy of Social Stories[TM]. Attributes of individuals with ASD in relation to Social Story intervention including difficulties with theory of mind…

  8. "ComPost": A Writing Program Newsletter and Its Rationale.

    ERIC Educational Resources Information Center

    Hall, Dennis R.

    1993-01-01

    Discusses the development and rationale of "ComPost," a weekly newsletter of the Composition Program at the University of Louisville. Suggests that a vehicle like ComPost can promote the communications that contribute to accomplishing collegiality and genuine program consensus. (RS)

  9. What Is Implementation Research? Rationale, Concepts, and Practices

    ERIC Educational Resources Information Center

    Bhattacharyya, Onil; Reeves, Scott; Zwarenstein, Merrick

    2009-01-01

    Despite the growing knowledge base on evidence-based practices in social work and medicine, there is a large gap between what is known and what is consistently done. Implementation research is the study of methods to promote the uptake of research findings into routine practice. In this article, we describe the rationale for implementation…

  10. Throwing Caution to the Wind: Rationales for Risky Behavior.

    ERIC Educational Resources Information Center

    de La Rue, Denise; Ruback, R. Barry

    There appears to be a tendency for people who have not been victimized by negative life events to perceive themselves as less vulnerable to victimization than others. Research has revealed this unrealistic optimism in risk perception. A study on rationales for risky behaviors was conducted to identify reasons other than this illusion of…

  11. Market Failures and the Rationale for National Parks.

    ERIC Educational Resources Information Center

    Turner, Robert W.

    2002-01-01

    Discusses how market failures can, in principle, be used to justify national parks. States the best rationale is based on existence or nonuse values instead of the recreational aspects. Shows more evidence (costs of providing and operating the parks and the magnitude of nonuse values) is needed before the case becomes compelling. (JEH)

  12. Throwing Caution to the Wind: Rationales for Risky Behavior.

    ERIC Educational Resources Information Center

    de La Rue, Denise; Ruback, R. Barry

    There appears to be a tendency for people who have not been victimized by negative life events to perceive themselves as less vulnerable to victimization than others. Research has revealed this unrealistic optimism in risk perception. A study on rationales for risky behaviors was conducted to identify reasons other than this illusion of…

  13. Introducing ICT in Schools in England: Rationale and Consequences

    ERIC Educational Resources Information Center

    Hammond, Michael

    2014-01-01

    This paper provides a critical perspective on the attempts to promote the use of information and communication technology (ICT) in teaching and learning in England. It describes the rationale given for the introduction of ICT in terms of its potential to impact on educational standards to contribute to developing a curriculum which has more…

  14. Survey of Basic Skills: Grade 3. Rationale and Content.

    ERIC Educational Resources Information Center

    California State Dept. of Education, Sacramento. Office of Program Evaluation and Research.

    This publication was developed as a useful tool for school personnel in interpreting California Assessment Program (CAP) test results. The skills measured by the Survey of Basic Skills: Grade 3 (an integral part of the CAP) are described. Rationale for test content specifications, methods of skill assessment, and activities conducted during the…

  15. Survey of Basic Skills: Grade 6. Rationale and Content.

    ERIC Educational Resources Information Center

    Law, Alexander I.

    This document presents more useful statewide testing as a rationale for a revision to the California Assessment Program (CAP). A brief description of the revision procedures, and an illustrative outline of the skills and concepts covered by CAP are included. Approximately 270 districts and counties participated in the test development process to…

  16. Learning Rationales and Virtual Reality Technology in Education.

    ERIC Educational Resources Information Center

    Chiou, Guey-Fa

    1995-01-01

    Defines and describes virtual reality technology and differentiates between virtual learning environment, learning material, and learning tools. Links learning rationales to virtual reality technology to pave conceptual foundations for application of virtual reality technology education. Constructivism, case-based learning, problem-based learning,…

  17. A Rationale for Mixed Methods (Integrative) Research Programmes in Education

    ERIC Educational Resources Information Center

    Niaz, Mansoor

    2008-01-01

    Recent research shows that research programmes (quantitative, qualitative and mixed) in education are not displaced (as suggested by Kuhn) but rather lead to integration. The objective of this study is to present a rationale for mixed methods (integrative) research programs based on contemporary philosophy of science (Lakatos, Giere, Cartwright,…

  18. THE HUMANITIES AND EDUCATIONAL ADMINISTRATION--RATIONALES AND RECOMMENDATIONS.

    ERIC Educational Resources Information Center

    FARQUHAR, ROBIN H.

    SELECTED CONTENT FROM THE HUMANITIES MAY CONTRIBUTE SUBSTANTIALLY TO IMPROVED PREPARATION OF EDUCATIONAL LEADERS. NEITHER THE SOCIAL SCIENCES NOR THE HUMANITIES ARE SUFFICIENT AS SOURCES OF CONTENT AND SKILLS FOR A TOTAL PREPARATORY PROGRAM IN EDUCATIONAL ADMINISTRATION. THREE MAIN FOCI ACCOUNT FOR MOST EXISTING RATIONALES FOR INCLUDING THE…

  19. Rationale for the Cultural Construction of School Mental Health Programming

    ERIC Educational Resources Information Center

    Arora, Prerna G.; Nastasi, Bonnie K.; Leff, Stephen S.

    2017-01-01

    The implementation of evidence-based psychological programming to meet the needs of a global population has been impeded by the translation of theories and research findings across populations and settings without due consideration of cultural factors. The purpose of this article is to discuss the rationale for use of partnership-based methods in…

  20. Rationale of Early Adopters of Fossil Fuel Divestment

    ERIC Educational Resources Information Center

    Beer, Christopher Todd

    2016-01-01

    Purpose: This research uses the social science perspectives of institutions, ecological modernization and social movements to analyze the rationale used by the early-adopting universities of fossil fuel divestment in the USA. Design/methodology/approach: Through analysis of qualitative data from interviews with key actors at the universities that…

  1. Stanton's "The Solitude of Self": A Rationale for Feminism.

    ERIC Educational Resources Information Center

    Campbell, Karlyn Kohrs

    1980-01-01

    Examines Elizabeth Cady Stanton's speech, "The Solitude of Self," as a philosophical statement of the principles underlying the nineteenth century struggle for woman's rights in the United States. Analyzes the lyric structure and tone of the speech and its tragic, existential rationale for feminism. (JMF)

  2. Understanding Readiness: A Rationale (A Rejoinder to Jensen).

    ERIC Educational Resources Information Center

    Ogletree, Earl

    It is only out of a sound theoretical rationale of readiness that practical educational application can derive. The child gradually gains voluntary control of movement throughout the states of locomotive, speech and cognitive development. Thinking is a more subtle form of movement. Voluntary control of movement is an integral part of learning. An…

  3. Oral Health Promotion in Schools: Rationale and Evaluation

    ERIC Educational Resources Information Center

    Kizito, Alex; Caitlin, Meredith; Wang, Yili; Kasangaki, Arabat; Macnab, Andrew J.

    2014-01-01

    Purpose: The purpose of this paper is to explain the rationale and potential for the WHO health promoting schools (HPS) to improve children's oral health, and describe validated quantitative methodologies and qualitative approaches to measure program impact. Design/Methodology/Approach: Critical discussion of the impact of poor oral health and…

  4. A Rationale for Use of "Grendel" in the High School.

    ERIC Educational Resources Information Center

    Burress, Lee

    In providing a rationale for the use of "Grendel" in high school English classes, this paper presents explanatory material demonstrating its appropriateness, beginning with a discussion of "Grendel" as part of a course in major or contemporary works of literature. The second section of the paper illustrates the use of the novel…

  5. A Psychological Rationale for Adventure Therapy with Hospitalized Adolescents.

    ERIC Educational Resources Information Center

    Gillis, H. L.; And Others

    The purpose of this study was to examine the Wechsler Intelligence Scale for Children-Revised (WISC-R) profiles of two treatment populations and present a theoretical rationale for using adventure therapy. Data for the first group were obtained from the psychological testing records of 150 randomly selected inpatients (81 males, 69 females)…

  6. Cannabidiol and epilepsy: Rationale and therapeutic potential.

    PubMed

    Leo, Antonio; Russo, Emilio; Elia, Maurizio

    2016-05-01

    Despite the introduction of new antiepileptic drugs (AEDs), the quality of life and therapeutic response for patients with epilepsy remains still poor. Unfortunately, besides several advantages, these new AEDs have not satisfactorily reduced the number of refractory patients. Therefore, the need for different other therapeutic options to manage epilepsy is still a current issue. To this purpose, emphasis has been given to phytocannabinoids, which have been medicinally used since ancient time in the treatment of neurological disorders including epilepsy. In particular, the nonpsychoactive compound cannabidiol (CBD) has shown anticonvulsant properties, both in preclinical and clinical studies, with a yet not completely clarified mechanism of action. However, it should be made clear that most phytocannabinoids do not act on the endocannabinoid system as in the case of CBD. In in vivo preclinical studies, CBD has shown significant anticonvulsant effects mainly in acute animal models of seizures, whereas restricted data exist in chronic models of epilepsy as well as in animal models of epileptogenesis. Likewise, clinical evidence seems to indicate that CBD is able to manage epilepsy both in adults and children affected by refractory seizures, with a favourable side effect profile. However, to date, clinical trials are both qualitatively and numerically limited, thus yet inconsistent. Therefore, further preclinical and clinical studies are undoubtedly needed to better evaluate the potential therapeutic profile of CBD in epilepsy, although the actually available data is promising.

  7. Why Do Higher Education Institutions Internationalize? An Investigation of the Multilevel Determinants of Internationalization Rationales

    ERIC Educational Resources Information Center

    Seeber, Marco; Cattaneo, Mattia; Huisman, Jeroen; Paleari, Stefano

    2016-01-01

    In recent decades internationalization has risen to prominence in higher education institutions (HEIs). Scholars have identified several rationales for internationalization. There is however a lack of conceptual understanding and empirical evidence for which rationale(s) for internationalization are chosen by a given HEI and why. The goal of this…

  8. The Elementary Science Teaching Rationale (STR): Analysis via a Preservice Teacher Self-Report Instrument

    ERIC Educational Resources Information Center

    Varrella, Gary F.; Veronesi, Peter D.

    2004-01-01

    This paper represents Part I of a two-part study examining preservice teachers' development of a personalized, research-based Science Teaching Rationale (STR). Researchers have historically documented the application of the "rationale paper" (Clough, 1992; Veronesi, 1998) using qualitative methodologies. Since the rationale paper continues to…

  9. Why Do Higher Education Institutions Internationalize? An Investigation of the Multilevel Determinants of Internationalization Rationales

    ERIC Educational Resources Information Center

    Seeber, Marco; Cattaneo, Mattia; Huisman, Jeroen; Paleari, Stefano

    2016-01-01

    In recent decades internationalization has risen to prominence in higher education institutions (HEIs). Scholars have identified several rationales for internationalization. There is however a lack of conceptual understanding and empirical evidence for which rationale(s) for internationalization are chosen by a given HEI and why. The goal of this…

  10. Artificial gait in complete spinal cord injured subjects: how to assess clinical performance.

    PubMed

    Pithon, Karla Rocha; Abreu, Daniela Cristina Carvalho de; Vasconcelos-Neto, Renata; Martins, Luiz Eduardo Barreto; Cliquet-Jr, Alberto

    2015-02-01

    Adapt the 6 minutes walking test (6MWT) to artificial gait in complete spinal cord injured (SCI) patients aided by neuromuscular electrical stimulation. Nine male individuals with paraplegia (AIS A) participated in this study. Lesion levels varied between T4 and T12 and time post injured from 4 to 13 years. Patients performed 6MWT 1 and 6MWT 2. They used neuromuscular electrical stimulation, and were aided by a walker. The differences between two 6MWT were assessed by using a paired t test. Multiple r-squared was also calculated. The 6MWT 1 and 6MWT 2 were not statistically different for heart rate, distance, mean speed and blood pressure. Multiple r-squared (r2 = 0.96) explained 96% of the variation in the distance walked. The use of 6MWT in artificial gait towards assessing exercise walking capacity is reproducible and easy to apply. It can be used to assess SCI artificial gait clinical performance.

  11. Hypertension, acute stent thrombosis and paraplegia 6 months after TEVAR for blunt thoracic aortic injury in a 22 year old patient.

    PubMed

    Martinelli, O; Faccenna, F; Malaj, A; Jabbour, J; Venosi, S; Gattuso, R; Gossetti, B; Irace, L

    2017-09-09

    TEVAR is a less invasive option for managing traumatic injuries of the descending aorta in polytraumatized patients. Concerns arise when treating young patients with TEVAR. A 22-year old male was admitted to the Emergency Department following a high-impact road traffic collision. Whole body CT scan documented multiple injuries, including rupture of descending thoracic aorta just below the isthmus. There was no evidence of paraplegia or stroke. We decided to treat him in an endovascular fashion with a Zenith Cook (Cook Incorporated, Bloomington, IN) endograft. Final angiography confirmed the proper positioning of the device, no infoldings and the optimal filling of the thoracic aorta downstream of the endoprosthesis. In the postoperative period, the patient showed high blood pressure which was treated with 4 different antihypertensive drugs. He was discharged on Cardioaspirine. CT scan control was scheduled after 30 days and 6 months, but he referred to our Emergency Department after less than 6 months with paraplegia, abdominal pain and acute renal failure. He had independently discontinued antiplatelet therapy three months before. Emergency CT control documented the presence of intimal flap and thrombus at the distal edge of the device. The MR imaging revealed ischemic damage of the spinal cord. We decided to reline the endograft using another Zenith Cook device with very good results. Renal failure and bowel pain gradually improved, but paraplegia is still present. TEVAR is the most suitable treatment for BTAI in the modern era. Concerns arise from what can happen to a young aorta receiving a stiff endovascular graft that should be carried all lifelong. These devices have been associated with acute hypertension and cardiac remodelling. Less stiffer stent grafts shoul be studied for young patients. High attention must be posed in the follow-up for the immediate resolution of eventual problems. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Sports practice, resilience, body and sexual esteem, and higher educational level are associated with better sexual adjustment in men with acquired paraplegia.

    PubMed

    Dos Passos Porto, Isabela; Cardoso, Fernando Luiz; Sacomori, Cinara

    2016-10-12

    To analyse the association of team sports practice and physical and psychological factors with sexual adjustment in men with paraplegia. More specifically, we aimed to compare athletes and non-athletes regarding sexual adjustment, resilience, body and sexual self-esteem, and functional independence. Cross-sectional study with a paired design. The study included 60 men with paraplegia (30 athletes and 30 non-athletes). We used a sociodemographic questionnaire (age, education, and time since injury); a physical and sexual esteem questionnaire; a resilience questionnaire; and Functional Independence Measure (FIM). The dependent variable, sexual adjustment, was determined by the sum of 5 questions about sexual frequency, desire, and satisfaction and physical and psychological adjustment. Data were analysed by using the χ2 test, Wilcoxon's test, Spearman's correlation test, and hierarchical multiple linear regression analysis, with p < 0.05. The mean age of the participants was 34.8 years (standard deviation (SD) 8.5). Athletes had significantly higher sexual adjustment (p = 0.001) and higher body and sexual esteem (p < 0.007) and functional independence (p = 0.019). Variables associated with better sexual adjustment in the final model were sports practice, higher body and sexual esteem, higher educational level, and higher resilience levels (R2 = 58%). There was an interaction between sports practice and body and sexual esteem (p = 0.024; R2 = 62%). Participation in sports influenced the sexual adjustment of the men with paraplegia, even when controlled for psychological (resilience and body and sexual esteem) and physical (functional independence) aspects.

  13. Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP).

    PubMed

    Baxter, Sally L; Allard, Denise E; Crowl, Christopher; Sherwood, Nina Tang

    2014-08-01

    Autosomal-dominant hereditary spastic paraplegia (AD-HSP) is a crippling neurodegenerative disease for which effective treatment or cure remains unknown. Victims experience progressive mobility loss due to degeneration of the longest axons in the spinal cord. Over half of AD-HSP cases arise from loss-of-function mutations in spastin, which encodes a microtubule-severing AAA ATPase. In Drosophila models of AD-HSP, larvae lacking Spastin exhibit abnormal motor neuron morphology and function, and most die as pupae. Adult survivors display impaired mobility, reminiscent of the human disease. Here, we show that rearing pupae or adults at reduced temperature (18°C), compared with the standard temperature of 24°C, improves the survival and mobility of adult spastin mutants but leaves wild-type flies unaffected. Flies expressing human spastin with pathogenic mutations are similarly rescued. Additionally, larval cooling partially rescues the larval synaptic phenotype. Cooling thus alleviates known spastin phenotypes for each developmental stage at which it is administered and, notably, is effective even in mature adults. We find further that cold treatment rescues larval synaptic defects in flies with mutations in Flower (a protein with no known relation to Spastin) and mobility defects in flies lacking Kat60-L1, another microtubule-severing protein enriched in the CNS. Together, these data support the hypothesis that the beneficial effects of cold extend beyond specific alleviation of Spastin dysfunction, to at least a subset of cellular and behavioral neuronal defects. Mild hypothermia, a common neuroprotective technique in clinical treatment of acute anoxia, might thus hold additional promise as a therapeutic approach for AD-HSP and, potentially, for other neurodegenerative diseases. © 2014. Published by The Company of Biologists Ltd.

  14. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

    PubMed

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F; Nöthen, Markus M; Munnich, Arnold; Strom, Tim M; Reis, Andre; Colleaux, Laurence

    2011-06-10

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(∗)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs(∗)20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex.

  15. Effects of Gender on Inpatient Rehabilitation Outcomes in the Elderly With Incomplete Paraplegia From Nontraumatic Spinal Cord Injury

    PubMed Central

    Kay, Elizabeth; Deutsch, Anne; Chen, David; Semik, Patrick; Rowles, Diane

    2010-01-01

    Objective: To examine gender differences in rehabilitation outcomes for patients with nontraumatic spinal cord injury. Research Design: Secondary analysis was conducted on Medicare beneficiary data from 65 to 74 year olds with incomplete paraplegia discharged from inpatient rehabilitation facilities in 2002 through 2005. Main Outcome Measures: Length of stay, Functional Independence Measure instrument motor item and subscale scores on discharge, and discharge destination. Results: Among patients with degenerative spinal disease, men had significantly longer rehabilitation stays than women (P < 0.001). Men with degenerative spinal disease had significantly lower discharge Functional Independence Measure scores than women, indicating more dependence in self-care (P < 0.001) and mobility (P < 0.001). Among patients with degenerative spinal disease, men were less likely to walk (odds ratio  =  0.58; 95% CI  =  0.38–0.87) and less likely to be independent with bladder management (odds ratio  =  0.44; 95% CI  =  0.31–0.62). Among patients with vascular ischemia, men were more independent (B  =  2.59; 99% CI  =  0.42–4.76) in mobility than women. There were no gender differences in the malignant spinal tumors group. There were no gender differences in being discharged to a community-based residence. Conclusions: Gender distributions varied by etiology. Gender differences were found in demographics, length of stay, and functional outcomes but not discharge destination. Men were more dependent than women at discharge in the etiology group with the least overall disability (degenerative spinal disease) and more independent in mobility than women at discharge in the etiology group with the most overall disability (vascular ischemia). PMID:21061897

  16. Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    PubMed Central

    van de Warrenburg, Bart P; Schouten, Meyke I; de Bot, Susanne T; Vermeer, Sascha; Meijer, Rowdy; Pennings, Maartje; Gilissen, Christian; Willemsen, Michèl AAP; Scheffer, Hans; Kamsteeg, Erik-Jan

    2016-01-01

    Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented clinical exome sequencing, followed by filtering data for a ‘movement disorders' gene panel, as a generic test to increase variant detection in 76 patients with these disorders. Segregation analysis or phenotypic re-evaluation was utilized to substantiate findings. Disease-causing variants were identified in 9 of 28 CA patients, and 8 of 48 HSP patients. In addition, possibly disease-causing variants were identified in 1 and 8 of the remaining CA and HSP patients, respectively. In 10 patients with CA, the total disease-causing or possibly disease-causing variants were detected in 8 different genes, whereas 16 HSP patients had such variants in 12 different genes. In the majority of cases, the identified variants were compatible with the patient phenotype. Interestingly, in some patients variants were identified in genes hitherto related to other movement disorders, such as TH variants in two siblings with HSP. In addition, rare disorders were uncovered, for example, a second case of HSP caused by a VCP variant. For some patients, exome sequencing results had implications for treatment, exemplified by the favorable L-DOPA treatment in a patient with HSP due to ATP13A2 variants (Parkinson type 9). Thus, clinical exome sequencing in this cohort of CA and HSP patients suggests broadening of disease spectra, revealed novel gene–disease associations, and uncovered unanticipated rare disorders. In addition, clinical exome sequencing results have shown their value in guiding practical patient management. PMID:27165006

  17. Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

    PubMed

    Sultana, Saki; Reichbauer, Jennifer; Schüle, Rebecca; Mochel, Fanny; Synofzik, Matthis; van der Spoel, Aarnoud C

    2015-09-11

    Glucosylceramide is a membrane glycolipid made up of the sphingolipid ceramide and glucose, and has a wide intracellular distribution. Glucosylceramide is degraded to ceramide and glucose by distinct, non-homologous enzymes, including glucocerebrosidase (GBA), localized in the endolysosomal pathway, and β-glucosidase 2 (GBA2), which is associated with the plasma membrane and/or the endoplasmic reticulum. It is well established that mutations in the GBA gene result in endolysosomal glucosylceramide accumulation, which triggers Gaucher disease. In contrast, the biological significance of GBA2 is less well understood. GBA2-deficient mice present with male infertility, but humans carrying mutations in the GBA2 gene are affected with a combination of cerebellar ataxia and spastic paraplegia, as well as with thin corpus callosum and cognitive impairment (SPastic Gait locus #46, SPG46). To improve our understanding of the biochemical consequences of the GBA2 mutations, we have evaluated five nonsense and five missense GBA2 mutants for their enzyme activity. In transfected cells, the mutant forms of GBA2 were present in widely different amounts, ranging from overabundant to very minor, compared to the wild type enzyme. Nevertheless, none of the GBA2 mutant cDNAs raised the enzyme activity in transfected cells, in contrast to the wild-type enzyme. These results suggest that SPG46 patients have a severe deficit in GBA2 activity, because the GBA2 mutants are intrinsically inactive and/or reduced in amount. This assessment of the expression levels and enzyme activities of mutant forms of GBA2 offers a first insight in the biochemical basis of the complex pathologies seen in SPG46. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

    PubMed Central

    Słabicki, Mikołaj; Theis, Mirko; Krastev, Dragomir B.; Samsonov, Sergey; Mundwiller, Emeline; Junqueira, Magno; Paszkowski-Rogacz, Maciej; Teyra, Joan; Heninger, Anne-Kristin; Poser, Ina; Prieur, Fabienne; Truchetto, Jérémy; Confavreux, Christian; Marelli, Cécilia; Durr, Alexandra; Camdessanche, Jean Philippe; Brice, Alexis; Shevchenko, Andrej; Pisabarro, M. Teresa; Stevanin, Giovanni; Buchholz, Frank

    2010-01-01

    DNA repair is essential to maintain genome integrity, and genes with roles in DNA repair are frequently mutated in a variety of human diseases. Repair via homologous recombination typically restores the original DNA sequence without introducing mutations, and a number of genes that are required for homologous recombination DNA double-strand break repair (HR-DSBR) have been identified. However, a systematic analysis of this important DNA repair pathway in mammalian cells has not been reported. Here, we describe a genome-scale endoribonuclease-prepared short interfering RNA (esiRNA) screen for genes involved in DNA double strand break repair. We report 61 genes that influenced the frequency of HR-DSBR and characterize in detail one of the genes that decreased the frequency of HR-DSBR. We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP). We identify mutations in HSP patients, discovering KIAA0415/SPG48 as a novel HSP-associated gene, and show that a KIAA0415/SPG48 mutant cell line is more sensitive to DNA damaging drugs. We present the first genome-scale survey of HR-DSBR in mammalian cells providing a dataset that should accelerate the discovery of novel genes with roles in DNA repair and associated medical conditions. The discovery that proteins forming a novel protein complex are required for efficient HR-DSBR and are mutated in patients suffering from HSP suggests a link between HSP and DNA repair. PMID:20613862

  19. Ageing and memory medication: social rationales and consumption practices.

    PubMed

    Lopes, Noémia; Pegado, Elsa; Zózimo, Joana R

    2017-09-01

    This article focuses on the social rationales underlying the consumption or rejection of medication for memory by the elderly. Our analysis is set within the wider frame of the current use of psychopharmaceuticals for the enhancement of everyday performance, discussing its relationship to new cultures of ageing. Our results, from a recently concluded study, point to different patterns of investment in memory in old age. On the one hand, we found a willingness to consume medication for memory - a heterogeneous disposition split between the imaginary of disease and that of performance enhancement. On the other hand, we found a cultural resistance and scepticism towards the use of psychopharmaceuticals for performance purposes. This suggests that a new frame of psychopharmaceuticalization of old age - represented by memory medication - is prompting different rationales, ranging from consumption to resistance. © 2017 Foundation for the Sociology of Health & Illness.

  20. Case-Based Capture and Reuse of Aerospace Design Rationale

    NASA Technical Reports Server (NTRS)

    Leake, David B.

    2001-01-01

    The goal of this project was to apply artificial intelligence techniques to facilitate capture and reuse of aerospace design rationale. The project combined case-based reasoning (CBR) and concept maps (CMaps) to develop methods for capturing, organizing, and interactively accessing records of experiences encapsulating the methods and rationale underlying expert aerospace design, in order to bring the captured knowledge to bear to support future reasoning. The project's results contribute both principles and methods for effective design-aiding systems that aid capture and access of useful design knowledge. The project has been guided by the tenets that design-aiding systems must: (1) Leverage a designer's knowledge, rather than attempting to replace it; (2) Be able to reflect different designers' differing conceptualizations of the design task, and to clarify those conceptualizations to others; (3) Include capabilities to capture information both by interactive knowledge modeling and during normal use; and (4) Integrate into normal designer tasks as naturally and unobtrusive as possible.

  1. Defense Acquistion: Rationale for Imposing Domestic Source Restrictions.

    DTIC Science & Technology

    2007-11-02

    retained the restriction for polyacrylonitrile-based carbon fiber, periscope tube forgings, bull gear ring forgings, and ship propulsion shaft...forgings 1984 Protect sensitive data Ship propulsion shaft forgings 1984 Unsettled conditions among suppliers In its reviews of industrial base... Ship Propulsion Shafts 14 14 15 16 17 Appendix III Rationale for 10 U.S.C. 2534-Imposed Restrictions Buses Chemical Weapons Antidote

  2. Acute paraplegia in a patient with spinal tophi: a case report.

    PubMed

    Wang, L C; Hung, Y C; Lee, E J; Chen, H H

    2001-03-01

    A 28-year-old man with a 5-year history of gouty arthritis suffered from an acute episode of lower back pain. He visited a rehabilitative clinic and received physical therapy following his examination. Weakness and numbness of both lower legs developed rapidly after physical therapy. He was sent to our hospital with complete paralysis of both lower limbs and complete sensory loss below the umbilicus 3 hours after the physical therapy. No peripheral tophi were found. Myelography showed an extrinsic compression of the dura sac at T10. Emergency decompressive laminectomy of T9 to T11 was performed. During the surgery, caseous material was found deposited in the ligamentum flavum and the left T9 to T10 facet joint, with indentation of the dura sac. The pathologic diagnosis was spinal tophi. After surgery, the patient's neurologic function recovered rapidly. It was suspected that inappropriate physical therapy might have aggravated acute inflammation of spinal gout and resulted in a rapid deterioration of neurologic function. Though gout is a chronic medical disease, an acute attack of spinal gout may be disastrous and requires emergency neurosurgical intervention.

  3. Structural-Engineering Rationales of Gold Nanoparticles for Cancer Theranostics.

    PubMed

    Chen, Wenwen; Zhang, Shaohua; Yu, Yangyang; Zhang, Huisheng; He, Qianjun

    2016-10-01

    Personalized theranostics of cancer is increasingly desired, and can be realized by virtue of multifunctional nanomaterials with possible high performances. Gold nanoparticles (GNPs) are a type of especially promising candidate for cancer theranostics, because their synthesis and modification are facile, their structures and physicochemical properties are flexibly controlled, and they are also biocompatible. Especially, the localized surface plasmon resonance and multivalent coordination effects on the surface endow them with NIR light-triggered photothermal imaging and therapy, controlled drug release, and targeted drug delivery. Although the structure, properties, and theranostic application of GNPs are considerably plentiful, no expert review systematically explains the relationships among their structure, property. and application and induces the engineering rationales of GNPs for cancer theranostics. Hence, there are no clear rules to guide the facile construction of optimal GNP structures aiming at a specific theranostic application. A series of structural-engineering rationales of GNPs for cancer theranostics is proposed through digging out the deep relationships between the structure and properties of GNPs. These rationales will be inspiring for guiding the engineering of specific and advanced GNPs for personalized cancer theranostics.

  4. Integration of Digital Dentistry into a Predoctoral Implant Program: Program Description, Rationale, and Utilization Trends.

    PubMed

    Afshari, Fatemeh S; Sukotjo, Cortino; Alfaro, Maria F; McCombs, Jeri; Campbell, Stephen D; Knoernschild, Kent L; Yuan, Judy Chia-Chun

    2017-08-01

    A recently revised predoctoral implant curriculum at the University of Illinois at Chicago College of Dentistry integrated digital dentistry into both the preclinical dental implant course and clinical activities. Traditionally, competence in the didactic and clinical parts of predoctoral education in single tooth implant restorations has emphasized the analog impression technique and subsequent mounting of soft tissue working casts. However, computer-aided design/computer-aided manufacturing (CAD/CAM) implant restorations can play a significant role in predoctoral dental education utilizing digital technologies. The goal of the curriculum expansion is to transition from analog to partially digital and, finally, complete digital workflow. The aim of this article is to describe the specific components, implementation, and rationale for the new digitally integrated implant curriculum and present short-term clinical utilization trends.

  5. “I Can’t Walk!” Acute Thrombosis of Descending Aorta Causing Paraplegia

    PubMed Central

    Mitchell, Matthew L.; Yucebey, Elif; Weaver, Mitchell R.; Jaehne, A. Kathrin; Rivers, Emanuel P.

    2013-01-01

    A 50-year-old man presented to the emergency department (ED) with acute, bilateral lower extremity weakness and loss of sensation, as well as absent pulses bilaterally. Computed tomography angiography showed complete occlusion of the aorta below the inferior mesenteric artery, extending to the iliac bifurcations. Echocardiographic findings showed severe systolic dysfunction (ejection fraction of 15%) and cryptic cardiogenic shock in spite of stable vital signs. Prior to early operative intervention, an early goal-oriented hemodynamic strategy of shock management resulted in the resolution of motor and sensory deficits.After definitive surgical intervention, the patient was discharged neurologically intact. Acute aortic occlusion is frequently accompanied by myocardial dysfunction, which can be from mild to severe. The most severe form can even occur with normal vital signs or occult cardiogenic shock. Early detection and goal-directed preoperative hemodynamic optimization, along with surgical intervention in the ED, is required to optimize outcomes. PMID:24106532

  6. Performance Evaluation of a Lower Limb Exoskeleton for Stair Ascent and Descent with Paraplegia*

    PubMed Central

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

    2013-01-01

    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

  7. Amodal Completion in Bonobos

    ERIC Educational Resources Information Center

    Nagasaka, Yasuo; Brooks, Daniel I.; Wasserman, Edward A.

    2010-01-01

    We trained two bonobos to discriminate among occluded, complete, and incomplete stimuli. The occluded stimulus comprised a pair of colored shapes, one of which appeared to occlude the other. The complete and incomplete stimuli involved the single shape that appeared to have been partially covered in the occluded stimulus; the complete stimulus…

  8. Amodal Completion in Bonobos

    ERIC Educational Resources Information Center

    Nagasaka, Yasuo; Brooks, Daniel I.; Wasserman, Edward A.

    2010-01-01

    We trained two bonobos to discriminate among occluded, complete, and incomplete stimuli. The occluded stimulus comprised a pair of colored shapes, one of which appeared to occlude the other. The complete and incomplete stimuli involved the single shape that appeared to have been partially covered in the occluded stimulus; the complete stimulus…

  9. 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

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

    PubMed

    Alvarez, Victoria; Sánchez-Ferrero, Elena; Beetz, Christian; Díaz, Marta; Alonso, Belén; Corao, Ana I; Gámez, Josep; Esteban, Jesús; Gonzalo, Juan F; Pascual-Pascual, Samuel I; López de Munain, Adolfo; Moris, Germán; Ribacoba, Renne; Márquez, Celedonio; Rosell, Jordi; Marín, Rosario; García-Barcina, Maria J; Del Castillo, Emilia; Benito, Carmen; Coto, Eliecer

    2010-10-08

    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. We defined the SPAST and ATL1 mutational spectrum in a total of 370 unrelated HSP index cases from Spain (83% with a pure phenotype). 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. 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.

  11. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

    PubMed Central

    Chan, Anne Yin-Yan; Au, Wing Chi; Shen, Yun; Chan, Ting Fung

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14. Subsequent whole-genome sequencing revealed that the patients are compound heterozygous for variants in the SPG11 gene, including the paternally inherited c.6856C>T (p.Arg2286*) variant and the novel maternally inherited c.2316+5G>A splice-donor region variant. Variants in SPG11 are the common cause of autosomal recessive spastic paraplegia type 11. According to the ClinVar database, there are already 101 reported pathogenic variants in SPG11 that are associated with HSPs. To our knowledge, this is the first report of SPG11 variants in our local population. The novel splice variant identified in this study enriches the catalog of SPG11 variants, potentially leading to better genetic diagnosis of HSPs. PMID:27900367

  12. Prevalence of risk factors for cardiovascular disease stratified by body mass index categories in patients with wheelchair-dependent paraplegia after spinal cord injury.

    PubMed

    Flank, Peter; Wahman, Kerstin; Levi, Richard; Fahlström, Martin

    2012-05-01

    To assess risk factors for cardiovascular disease at different body mass index values in persons with wheelchair-dependent paraplegia after spinal cord injuries. Cross-sectional study. A total of 135 individuals, age range 18-79 years, with chronic (≥ 1 year) post-traumatic paraplegia. Body mass index was stratified into 6 categorical groups. Cardiovascular disease risk factors for hypertension, diabetes mellitus and a serum lipid profile were analysed and reported by body mass index category. More than 80% of the examined participants had at least one cardiovascular disease risk factor irrespective of body mass index level. Hypertension was highly prevalent, especially in men. Dyslipidaemia was common at all body mass index categories in both men and women. Higher body mass index values tended to associate with more hypertension and diabetes mellitus, whereas dyslipidaemia was prevalent across all body mass index categories. Studies that intervene to reduce weight and or percentage body fat should be performed to determine the effect on reducing modifiable cardiovascular disease risk factors.

  13. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  14. Treadmill step training-induced adaptive muscular plasticity in a chronic paraplegia model.

    PubMed

    Ilha, Jocemar; da Cunha, Núbia B; Jaeger, Mariane; de Souza, Daniela F; Nascimento, Patrícia S do; Marcuzzo, Simone; Figueiró, Micheli; Gottfried, Carmem; Achaval, Matilde

    2011-04-04

    The purpose of this study was to provide evidence that treadmill step training is capable of attenuating muscle atrophy and may regulate brain derived neurotrophic factor (BDNF) in soleus muscle after complete spinal cord transection (SCT) at T8-T9 in rats. Five days after SCT, spinal animals started a 9-week step-training program on a treadmill with partial body weight support and manual step help. The muscular trophism was studied by analyzing muscle weight and myofiber cross-sectional area of the soleus, while Western blot analysis was used to detect BDNF expression in the same muscle. Step training, initiated immediately after SCT in rats, may partially impede/revert muscular atrophy in chronic paralyzed soleus muscle. Moreover, treadmill step training promoted upregulation of the BDNF in soleus muscle, which was positively correlated with muscle weight and myofiber cross-sectional size. These findings have important implications for the comprehension of the neurobiological substrate that promotes exercise-induced effects on paralyzed skeletal muscle and suggests treadmill training is a viable therapeutic approach in spinal cord injuries. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  15. An implantable neuroprosthesis for standing and walking in paraplegia: 5-year patient follow-up

    NASA Astrophysics Data System (ADS)

    Guiraud, David; Stieglitz, Thomas; Koch, Klaus Peter; Divoux, Jean-Louis; Rabischong, Pierre

    2006-12-01

    We present the results of a 5-year patient follow-up after implantation of an original neuroprosthesis. The system is able to stimulate both epimysial and neural electrodes in such a way that the complete flexor-extensor chain of the lower limb can be activated without using the withdrawal reflex. We demonstrate that standing and assisted walking are possible, and the results have remained stable for 5 years. Nevertheless, some problems were noted, particularly regarding the muscle response on the epimysial channels. Analysis of the electrical behaviour and thresholds indicated that the surgical phase is crucial because of the sensitivity of the functional responses to electrode placement. Neural stimulation proved to be more efficient and more stable over time. This mode requires less energy and provides more selective stimulation. This FES system can be improved to enable balanced standing and less fatiguing gait, but this will require feedback on event detection to trigger transitions between stimulation sequences, as well as feedback to the patient about the state of his lower limbs.

  16. Comorbidity and physical activity in people with paraplegia: a descriptive cross-sectional study.

    PubMed

    Montesinos-Magraner, L; Serra-Añó, P; García-Massó, X; Ramírez-Garcerán, L; González, L-M; González-Viejo, M Á

    2017-08-01

    Descriptive cross-sectional study. The study was conducted in the Spinal Cord Injury Unit of the University Vall d'Hebron Hospital and in the Physical Education and Sports Department of the University of Valencia. The aim of this study was to quantify the presence of comorbidities in spinal cord injury (SCI) subjects who did or did not perform regular physical activity (PA) and to identify the relationship between PA and the level of comorbidity. The sample consisted of patients with complete motor SCI (T2-T12), who were fitted with an accelerometer attached to the non-dominant wrist for a period of 1 week. The clinical and blood analytic variables were selected by an expert panel. In the exploratory analysis, we have found differences in the total number of pathologies between active and inactive patients, with fewer total pathologies in the active patient group. An association was found between the PA level and diabetes mellitus (; P=0.047; φ=0.25). We also observed an association between the cardioprotector level of high-density lipoprotein (HDL)-cholesterol and PA level (; P=0.057; Φ0.24). Our results suggest that patients considered active showed lower total comorbidity than inactive patients and higher protection levels against developing cardiovascular comorbidity.Spinal Cord advance online publication, 1 August 2017; doi:10.1038/sc.2017.90.

  17. POSTURAL CONTROL ASSESSMENT IN PHYSICALLY ACTIVE AND SEDENTARY INDIVIDUALS WITH PARAPLEGIA

    PubMed Central

    Magnani, Paola Errera; Cliquet, Alberto; de Abreu, Daniela Cristina Carvalho

    2017-01-01

    ABSTRACT Objective: The aim of this study was to evaluate functional independence and trunk control during maximum-range tasks in individuals with spinal cord injuries, who were divided into sedentary (SSI, n=10) and physically active (PASI, n=10) groups . Methods: Anamnesis was conducted and level and type of injury were identified (according to the American Spinal Injury Association protocol, ASIA) and the Functional Independence Measure (FIM) questionnaire was applied. For the forward and lateral reach task, the subjects were instructed to reach as far as possible. Mean data were compared using the unpaired t test and Mann-Whitney test and differences were considered significant when p<0.05 . Results: The PASI group performed better in self-care activities (PASI: 40.8±0.42 points, SSI: 38.0±3.58 points, p=0.01), sphincter control (PASI: 10.5±1.84 points, SSI: 8.2±3.04 points, p=0.02), transfers (PASI: 20.7±0.48 points, SSI: 16.9±4.27 points, p=0.04), and total FIM score (PASI: 104.0±2.30 points, SSI 105.1±8.56 points, p=0.01). On the maximum reach task, the PASI group had a greater average range in all directions evaluated (p<0.05) . Conclusion: The continuous practice of exercise increased motor function independence and trunk control in individuals with complete spinal cord injury. Level of Evidence II, Prospective Comparative Study. PMID:28955171

  18. POSTURAL CONTROL ASSESSMENT IN PHYSICALLY ACTIVE AND SEDENTARY INDIVIDUALS WITH PARAPLEGIA.

    PubMed

    Magnani, Paola Errera; Cliquet, Alberto; de Abreu, Daniela Cristina Carvalho

    2017-01-01

    The aim of this study was to evaluate functional independence and trunk control during maximum-range tasks in individuals with spinal cord injuries, who were divided into sedentary (SSI, n=10) and physically active (PASI, n=10) groups . Anamnesis was conducted and level and type of injury were identified (according to the American Spinal Injury Association protocol, ASIA) and the Functional Independence Measure (FIM) questionnaire was applied. For the forward and lateral reach task, the subjects were instructed to reach as far as possible. Mean data were compared using the unpaired t test and Mann-Whitney test and differences were considered significant when p<0.05 . The PASI group performed better in self-care activities (PASI: 40.8±0.42 points, SSI: 38.0±3.58 points, p=0.01), sphincter control (PASI: 10.5±1.84 points, SSI: 8.2±3.04 points, p=0.02), transfers (PASI: 20.7±0.48 points, SSI: 16.9±4.27 points, p=0.04), and total FIM score (PASI: 104.0±2.30 points, SSI 105.1±8.56 points, p=0.01). On the maximum reach task, the PASI group had a greater average range in all directions evaluated (p<0.05) . The continuous practice of exercise increased motor function independence and trunk control in individuals with complete spinal cord injury. Level of Evidence II, Prospective Comparative Study.

  19. Physical Activity and Quality of Life among Adults with Paraplegia in Odisha, India

    PubMed Central

    Ganesh, Shankar; Mishra, Chittaranjan

    2016-01-01

    Objectives: The complete rehabilitation of patients with spinal cord injuries (SCI) comprises both physical and psychosocial factors. This study therefore aimed to assess physical activity and quality of life (QOL) among paraplegic patients with SCI in Odisha, India. Methods: This cross-sectional prospective study was conducted between March 2010 and December 2013. All paraplegic patients treated at the Swami Vivekanand National Institute of Rehabilitation Training & Research in Odisha, India, during the study period who met the inclusion criteria were invited to participate in the study (n = 364). Structured face-to-face interviews were held with participants and QOL and physical activity were assessed using the abbreviated World Health Organization QOL instrument and the Physical Activity Scale for Individuals with Physical Disabilities, respectively. Results: A total of 84 people participated in the study (response rate: 23.1%). The mean age was 32.54 ± 10.75 years and 90.5% of the participants were male. Participants had a low mean metabolic equivalent score (18.18 ± 10.68 hours/day). Additionally, low mean scores were noted for the physical health, psychological well-being, social relationships and environment QOL domains (49.76 ± 18.74, 48.57 ± 17.04, 57.88 ± 17.04 and 49.85 ± 17.77, respectively). There was a strong positive association between levels of physical activity and all QOL domains (P <0.050). Physical activity and employment status were significant predictors of all QOL domains (P <0.001). Conclusion: Low physical activity levels and QOL were noted among the paraplegic subjects. Interventions promoting physical activity and employment may help to improve QOL among this patient group. PMID:26909214

  20. Effect of exoskeletal joint constraint and passive resistance on metabolic energy expenditure: Implications for walking in paraplegia.

    PubMed

    Chang, Sarah R; Kobetic, Rudi; Triolo, Ronald J

    2017-01-01

    An important consideration in the design of a practical system to restore walking in individuals with spinal cord injury is to minimize metabolic energy demand on the user. In this study, the effects of exoskeletal constraints on metabolic energy expenditure were evaluated in able-bodied volunteers to gain insight into the demands of walking with a hybrid neuroprosthesis after paralysis. The exoskeleton had a hydraulic mechanism to reciprocally couple hip flexion and extension, unlocked hydraulic stance controlled knee mechanisms, and ankles fixed at neutral by ankle-foot orthoses. These mechanisms added passive resistance to the hip (15 Nm) and knee (6 Nm) joints while the exoskeleton constrained joint motion to the sagittal plane. The average oxygen consumption when walking with the exoskeleton was 22.5 ± 3.4 ml O2/min/kg as compared to 11.7 ± 2.0 ml O2/min/kg when walking without the exoskeleton at a comparable speed. The heart rate and physiological cost index with the exoskeleton were at least 30% and 4.3 times higher, respectively, than walking without it. The maximum average speed achieved with the exoskeleton was 1.2 ± 0.2 m/s, at a cadence of 104 ± 11 steps/min, and step length of 70 ± 7 cm. Average peak hip joint angles (25 ± 7°) were within normal range, while average peak knee joint angles (40 ± 8°) were less than normal. Both hip and knee angular velocities were reduced with the exoskeleton as compared to normal. While the walking speed achieved with the exoskeleton could be sufficient for community ambulation, metabolic energy expenditure was significantly increased and unsustainable for such activities. This suggests that passive resistance, constraining leg motion to the sagittal plane, reciprocally coupling the hip joints, and weight of exoskeleton place considerable limitations on the utility of the device and need to be minimized in future designs of practical hybrid neuroprostheses for walking after paraplegia.

  1. Effect of exoskeletal joint constraint and passive resistance on metabolic energy expenditure: Implications for walking in paraplegia

    PubMed Central

    Kobetic, Rudi; Triolo, Ronald J.

    2017-01-01

    An important consideration in the design of a practical system to restore walking in individuals with spinal cord injury is to minimize metabolic energy demand on the user. In this study, the effects of exoskeletal constraints on metabolic energy expenditure were evaluated in able-bodied volunteers to gain insight into the demands of walking with a hybrid neuroprosthesis after paralysis. The exoskeleton had a hydraulic mechanism to reciprocally couple hip flexion and extension, unlocked hydraulic stance controlled knee mechanisms, and ankles fixed at neutral by ankle-foot orthoses. These mechanisms added passive resistance to the hip (15 Nm) and knee (6 Nm) joints while the exoskeleton constrained joint motion to the sagittal plane. The average oxygen consumption when walking with the exoskeleton was 22.5 ± 3.4 ml O2/min/kg as compared to 11.7 ± 2.0 ml O2/min/kg when walking without the exoskeleton at a comparable speed. The heart rate and physiological cost index with the exoskeleton were at least 30% and 4.3 times higher, respectively, than walking without it. The maximum average speed achieved with the exoskeleton was 1.2 ± 0.2 m/s, at a cadence of 104 ± 11 steps/min, and step length of 70 ± 7 cm. Average peak hip joint angles (25 ± 7°) were within normal range, while average peak knee joint angles (40 ± 8°) were less than normal. Both hip and knee angular velocities were reduced with the exoskeleton as compared to normal. While the walking speed achieved with the exoskeleton could be sufficient for community ambulation, metabolic energy expenditure was significantly increased and unsustainable for such activities. This suggests that passive resistance, constraining leg motion to the sagittal plane, reciprocally coupling the hip joints, and weight of exoskeleton place considerable limitations on the utility of the device and need to be minimized in future designs of practical hybrid neuroprostheses for walking after paraplegia. PMID:28817701

  2. Getting inside acupuncture trials - Exploring intervention theory and rationale

    PubMed Central

    2011-01-01

    Background Acupuncture can be described as a complex intervention. In reports of clinical trials the mechanism of acupuncture (that is, the process by which change is effected) is often left unstated or not known. This is problematic in assisting understanding of how acupuncture might work and in drawing together evidence on the potential benefits of acupuncture. Our aim was to aid the identification of the assumed mechanisms underlying the acupuncture interventions in clinical trials by developing an analytical framework to differentiate two contrasting approaches to acupuncture (traditional acupuncture and Western medical acupuncture). Methods Based on the principles of realist review, an analytical framework to differentiate these two contrasting approaches was developed. In order to see how useful the framework was in uncovering the theoretical rationale, it was applied to a set of trials of acupuncture for fatigue and vasomotor symptoms, identified from a wider literature review of acupuncture and early stage breast cancer. Results When examined for the degree to which a study demonstrated adherence to a theoretical model, two of the fourteen selected studies could be considered TA, five MA, with the remaining seven not fitting into any recognisable model. When examined by symptom, five of the nine vasomotor studies, all from one group of researchers, are arguably in the MA category, and two a TA model; in contrast, none of the five fatigue studies could be classed as either MA or TA and all studies had a weak rationale for the chosen treatment for fatigue. Conclusion Our application of the framework to the selected studies suggests that it is a useful tool to help uncover the therapeutic rationale of acupuncture interventions in clinical trials, for distinguishing between TA and MA approaches and for exploring issues of model validity. English language acupuncture trials frequently fail to report enough detail relating to the intervention. We advocate using

  3. Critique of rationale for transmutation of nuclear waste

    SciTech Connect

    Smith, C.F.; Cohen, J.J.

    1980-07-01

    It has been suggested that nuclear transmutation could be used in the elimination or reduction of hazards from radioactive wastes. The rationale for this suggestion is the subject of this paper. The objectives of partitioning-transmutation are described. The benefits are evaluated. The author concludes that transmutation would appear at best to offer the opportunity of reducing an already low risk. This would not seem to be justifiable considering the cost. If non-radiological risks are considered, there is a negative total benefit. (DC)

  4. Rationale for windshield glass system specification requirements for shuttle orbiter

    NASA Technical Reports Server (NTRS)

    Hayashida, K.; King, G. L.; Tesinsiky, J.; Wittenburg, D. R.

    1972-01-01

    A preliminary procurement specification for the space shuttle orbiter windshield pane, and some of the design considerations and rationale leading to its development are presented. The windshield designer is given the necessary methods and procedures for assuring glass pane structural integrity by proof test. These methods and procedures are fully developed for annealed and thermally tempered aluminosilicate, borosilicate, and soda lime glass and for annealed fused silica. Application of the method to chemically tempered glass is considered. Other considerations are vision requirements, protection against bird impact, hail, frost, rain, and meteoroids. The functional requirements of the windshield system during landing, ferrying, boost, space flight, and entry are included.

  5. Case-Based Capture and Reuse of Aerospace Design Rationale

    NASA Technical Reports Server (NTRS)

    Leake, David B.

    1998-01-01

    The goal of this project is to apply artificial intelligence techniques to facilitate capture and reuse of aerospace design rationale. The project applies case-based reasoning (CBR) and concept mapping (CMAP) tools to the task of capturing, organizing, and interactively accessing experiences or "cases" encapsulating the methods and rationale underlying expert aerospace design. As stipulated in the award, Indiana University and Ames personnel are collaborating on performance of research and determining the direction of research, to assure that the project focuses on high-value tasks. In the first five months of the project, we have made two visits to Ames Research Center to consult with our NASA collaborators, to learn about the advanced aerospace design tools being developed there, and to identify specific needs for intelligent design support. These meetings identified a number of task areas for applying CBR and concept mapping technology. We jointly selected a first task area to focus on: Acquiring the convergence criteria that experts use to guide the selection of useful data from a set of numerical simulations of high-lift systems. During the first funding period, we developed two software systems. First, we have adapted a CBR system developed at Indiana University into a prototype case-based reasoning shell to capture and retrieve information about design experiences, with the sample task of capturing and reusing experts' intuitive criteria for determining convergence (work conducted at Indiana University). Second, we have also adapted and refined existing concept mapping tools that will be used to clarify and capture the rationale underlying those experiences, to facilitate understanding of the expert's reasoning and guide future reuse of captured information (work conducted at the University of West Florida). The tools we have developed are designed to be the basis for a general framework for facilitating tasks within systems developed by the Advanced Design

  6. The cast aluminum denture base. Part I: Rationale.

    PubMed

    Halperin, A R

    1980-06-01

    Experiments with various casting techniques have been done, and aluminum base dentures have been made for many patients. The subjective clinical response from patients wearing aluminum dentures has not been different from patients wearing acrylic resin dentures. However, Brudvik and Holt have stated that they have had marked clinical success in using aluminum bases. A literature review on using aluminum as a denture base material has been presented, and the rationale for its use has been discussed. In part II, a technique will be described that can be used for casting aluminum denture bases.

  7. Plato's Cosmic Theology: A Rationale for a Polytheistic Astrology?

    NASA Astrophysics Data System (ADS)

    Henriques, André

    2015-05-01

    Plato's cosmology influenced classical astronomy and religion, but was in turn influenced by the polytheistic context of its time. Throughout his texts, including the cosmological treatise Timaeus, and the discussions on the soul in the Phaedrus, Plato (c.428-c.348 BC) established what can be generalised as Platonic cosmological thought. An understanding of the philosophical and mythical levels of Platonic thought can provide a rationale for polytheistic and astrological worldviews, pointing to some cosmological continuity, alongside major shifts, from ancient Greek religion to the astrological thought of ancient astronomers such as Claudius Ptolemy.

  8. Failure analysis in semiconductor devices - Rationale, methodology and practice

    NASA Astrophysics Data System (ADS)

    Richards, B. P.; Footner, P. K.

    It is pointed out that failure analysis represents a vital part of a complex reliability evaluation in the semiconductor industry. The present study is concerned with the results of investigations involving failed devices, ranging from high power thyristors to microwave devices, discrete transistors and both active and passive elements of ICs. Particular attention is given to the rationale and procedure for failure analysis, some procedural problems and the consequent necessity for techniques complementary to microscopy, an illustration of the approaches used to overcome the problems, and the problems involved in identifying particular failure mechanisms and failure causes.

  9. Latino College Completion: Michigan

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  10. Latino College Completion: Massachusetts

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  11. Latino College Completion: Virginia

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  12. Latino College Completion: Louisiana

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  13. Latino College Completion: Missouri

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  14. Latino College Completion: Georgia

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  15. Latino College Completion: Utah

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  16. Latino College Completion: Vermont

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  17. Latino College Completion: Arizona

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  18. Latino College Completion: Alaska

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  19. Latino College Completion: Colorado

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  20. Latino College Completion: Wisconsin

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…