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Sample records for severe spasticity due

  1. Spasticity

    Science.gov (United States)

    ... Easter Seals March of Dimes National Multiple Sclerosis Society United Cerebral Palsy (UCP) See all related organizations Publications Order NINDS Publications Definition Spasticity is a condition in which there is ...

  2. Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia

    Science.gov (United States)

    Sitaraman, Sadasivan

    2016-01-01

    Introduction Diminished bone mineral density and delayed skeletal maturation are common in children with spastic quadriplegia. Aim The purpose of our study was to evaluate the Bone Mineral Density (BMD) of children with moderate to severe spastic quadriplegia and its relationship with other variables like nutrition and growth. Materials and Methods This was a hospital based, cross- sectional, case-control study. Forty-two (28 males, 14 females) children with spastic quadriplegia and 42 (24 males, 18 females) healthy children were included in the study. BMD of cases and control were measured by Dual Energy X-ray Absorptiometry (DEXA). Radiographs of left hand and wrist of cases and controls were taken and bone age was determined. Results BMD values of upper extremity, lower extremity, thoraco-lumbar spine and pelvis in cases were lower than those of controls (p quadriplegia and nutritional status is an important contributing factor. PMID:27504366

  3. Efficacy of intrathecal baclofen delivery in the management of severe spasticity in upper motor neuron syndrome

    NARCIS (Netherlands)

    Rietman, Johan Swanik; Geertzen, J.H.B.

    In the treatment of patients with severe spasticity, intrathecal administration of baclofen (ITB) was introduced in order to exert its effect directly at the receptor sites in the spinal cord, and have better therapeutic efficacy with smaller drug doses compared to oral antispasmodic medications.

  4. Catheter Migration After Implantationan Intrathecal Baclofen Infusion Pump for Severe Spasticity: A Case Report

    Directory of Open Access Journals (Sweden)

    Tung-Chou Li

    2008-09-01

    Full Text Available We report a case of intrathecal baclofen infusion pump implantation complicated by migration of the catheter tip. A 55-year-old man required an intrathecal baclofen infusion for severe spasticity 4 years after a cervical spinal cord injury with incomplete tetraparesis. Twelve months after initial implantation of the device, the patient began to experience a recurrence of trunk tightness and spasticity. Subsequent X-ray and computed tomography evaluations of the catheter system revealed pooling of contrast medium outside of the intrathecal distribution in the lumbar subcutaneous region of the back and therefore migration of the pump catheter tip. At surgical revision, emphasis was placed on minimizing the length of catheter outside of the spine and securing the catheter in the supraspinous fascia with a right-angled anchor. The distance between the anchors and the entry point of the catheter into the supraspinous fascia was also reduced to prevent slipping when the patient bends forward. After surgery, the patient's spasticity improved and, 1 year later, he has experienced no further complications during follow-up, requiring an average baclofen dose of 150 mg/day. Here, we describe several surgical methods intended to secure the intrathecal catheter and prevent catheter migration. Other complications related to catheter failure are also highlighted.

  5. Unstable gait due to spasticity of the rectus femoris: gait analysis and motor nerve block.

    Science.gov (United States)

    Gross, R; Leboeuf, F; Rémy-Néris, O; Perrouin-Verbe, B

    2012-12-01

    We present the case of a 54 year-old man presenting with a right Brown-Séquard plus syndrome (BSPS) after a traumatic cervical spinal cord injury. After being operated on with selective tibial neurotomy and triceps surae lengthening because of a right spastic equinus foot, he developed a gait disorder at high speed. The patient complained about an instability of the right knee. Observational gait analysis exhibited an oscillating, flexion/extension motion of the right knee during stance, which was confirmed by gait analysis. Dynamic electromyographic recordings exhibited a clonus of the right rectus femoris (RF) during stance. The spastic activity of the RF and the abnormal knee motion totally reversed after a motor nerve block of the RF, as well as after botulinum toxin type A injection into the RF. We emphasize that complex, spastic gait disorders can benefit from a comprehensive assessment including gait analysis and nerve blocks. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  6. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity

    Science.gov (United States)

    Ekelem, Andrew; Goldfarb, Michael

    2018-01-01

    Spasticity is a common comorbidity associated with spinal cord injury (SCI). Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated) to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four) walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236%) and peak knee flexion by 14.4° (56%). Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15%) at the hip motors and 734 mA (38%) at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the common

  7. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity.

    Science.gov (United States)

    Ekelem, Andrew; Goldfarb, Michael

    2018-01-01

    Spasticity is a common comorbidity associated with spinal cord injury (SCI). Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated) to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four) walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236%) and peak knee flexion by 14.4° (56%). Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15%) at the hip motors and 734 mA (38%) at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the common

  8. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity

    Directory of Open Access Journals (Sweden)

    Andrew Ekelem

    2018-06-01

    Full Text Available Spasticity is a common comorbidity associated with spinal cord injury (SCI. Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236% and peak knee flexion by 14.4° (56%. Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15% at the hip motors and 734 mA (38% at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the

  9. Flexion synergy overshadows flexor spasticity during reaching in chronic moderate to severe hemiparetic stroke.

    Science.gov (United States)

    Ellis, Michael D; Schut, Ingrid; Dewald, Julius P A

    2017-07-01

    Pharmaceutical intervention targets arm flexor spasticity with an often-unsuccessful goal of improving function. Flexion synergy is a related motor impairment that may be inadvertently neglected. Here, flexor spasticity and flexion synergy are disentangled to determine their contributions to reaching dysfunction. Twenty-six individuals participated. A robotic device systematically modulated shoulder abduction loading during ballistic reaching. Elbow muscle electromyography data were partitioned into windows delineated by elbow joint velocity allowing for the separation of synergy- and spasticity-related activation. Reaching velocity decreased with abduction loading (psynergy increased with abduction loading (psynergy is the predominant contributor to reaching dysfunction while flexor spasticity appears only relevant during unnaturally occurring passively supported movement. Interventions targeting flexion synergy should be leveraged in future stroke recovery trials. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  10. [Intrathecal baclofen therapy for spastic paraparesis due to aortic dissecting aneurysm; recent progress in treatment strategy].

    Science.gov (United States)

    Nakajima, T; Akagawa, H; Ochiai, T; Hayashi, M; Goto, S; Taira, T; Okada, Y

    2009-11-01

    A 48-year-old man suffered from acute dissection of thoracic aortic aneurysm which eventually led to replacement of the ascending aorta with a tube graft. During this clinical course, circulatory failure in intercostal artery resulted in spinal cord infarction followed by moto-sensory disturbance below Th7 dermatomic area. Seven months later, spasticity with pain in both lower extremities became conspicuous that was uncontrollable by any oral medication. Eventually the patient underwent the implantation of continuous infusion pump for intrathecal baclofen therapy (ITB). The clinical condition was remarkably improved and now has been well controlled. ITB, authorized by Japanese Ministry of Health Labour and Welfare in 2006, has notable therapeutic effects on spasticity derived from any sort of central nervous disorder. More promotive enlightenment if ITB is indispensable for enhancement of its medical benefit in Japan.

  11. Severe Spastic Contractures and Diabetes Mellitus Independently Predict Subsequent Minimal Trauma Fractures Among Long-Term Care Residents.

    Science.gov (United States)

    Lam, Kuen; Leung, Man Fuk; Kwan, Chi Wai; Kwan, Joseph

    2016-11-01

    The study aimed to examine the epidemiology of hypertonic contractures and its relationship with minimal trauma fracture (MTF), and to determine the incidence and predictors of (MTF) in long-term care residents. This was a longitudinal cohort study of prospectively collected data. Participants were followed from March 2007 to March 2016 or until death. A 300-bed long-term care hospital in Hong Kong. All long-term care residents who were in need of continuous medical and nursing care for their activities of daily living. Information on patients' demographic data, severe contracture defined as a decrease of 50% or more of the normal passive range of joint movement of the joint, and severe limb spasticity defined by the Modified Ashworth Scale higher than grade 3, medical comorbidities, functional status, cognitive status, nutritional status including body mass index and serum albumin, past history of fractures, were evaluated as potential risk factors for subsequent MTF. Three hundred ninety-six residents [148 males, mean ± standard deviation (SD), age = 79 ± 16 years] were included for analysis. The presence of severe contracture was highly prevalent among the study population: 91% of residents had at least 1 severe contracture, and 41% of residents had severe contractures involving all 4 limbs. Moreover, there were a significant proportion of residents who had severe limb spasticity with the elbow flexors (32.4%) and knee flexors (33.9%) being the most commonly involved muscles. Twelve residents (3%) suffered from subsequent MTF over a median follow-up of 33 (SD = 30) months. Seven out of these 12 residents died during the follow-up period, with a mean survival of 17.8 months (SD = 12.6) after the fracture event. The following 2 factors were found to independently predict subsequent MTF in a multivariate Cox regression: bilateral severe spastic knee contractures (hazard ratio = 16.5, P contractures are common morbidities in long-term care residents

  12. [Severe, subacute axonal polyneuropathy due to hypophosphatemia].

    NARCIS (Netherlands)

    Eijk, J.J.J. van; Abdo, W.F.; Deurwaarder, E. den; Zwarts, M.J.; Warrenburg, B.P.C. van de

    2010-01-01

    A 46-year-old man receiving tube feeding because of anorexia and weight loss developed progressive neurological symptoms initially resembling Guillain-Barre syndrome. Eventually axonal neuropathy due to severe hypophosphatemia was diagnosed. Hypophosphatemia can be caused by the so-called refeeding

  13. Long term effect (more than five years) of intrathecal baclofen on impairment, disability, and quality of life in patients with severe spasticity of spinal origin

    NARCIS (Netherlands)

    Zahavi, A; Geertzen, JHB; Middel, B; Staal, M; Rietman, JS

    2004-01-01

    Objectives: To evaluate long term change in impairment, disability, and health related functional status in patients with severe spasticity who received intrathecal baclofen. Methods: A long term ( more than five years) observational longitudinal follow up study assessing 21 patients who received

  14. Eosinophilic ascites due to severe eosinophilic ileitis

    Directory of Open Access Journals (Sweden)

    Setia Namrata

    2010-01-01

    Full Text Available Background: There is a broad etiology for effusion eosinophilia that includes allergic, reactive, infectious, immune, neoplastic, and idiopathic causes. We report and describe the cytomorphologic findings of a rare case of eosinophilic ascites due to severe eosinophilic ileitis. Case Presentation: A 17-year-old male manifested acutely with eosinophilic ascites due to severe biopsy-proven subserosal eosinophilic ileitis. Isolated peritoneal fluid submitted for cytologic evaluation revealed that 65% eosinophils were present in a bloody background. The patient responded to corticosteroids, with complete resolution of his ascites. Conclusion: Eosinophilic gastroenteritis with subserosal involvement should be added to the list of causes for eosinophils in peritoneal fluid. The finding of eosinophilic ascites, with appropriate clinical and laboratory findings, may warrant the need to perform laparoscopic intestinal biopsies to confirm the diagnosis.

  15. Eosinophilic ascites due to severe eosinophilic ileitis.

    Science.gov (United States)

    Setia, Namrata; Ghobrial, Peter; Liron, Pantanowitz

    2010-09-17

    There is a broad etiology for effusion eosinophilia that includes allergic, reactive, infectious, immune, neoplastic, and idiopathic causes. We report and describe the cytomorphologic findings of a rare case of eosinophilic ascites due to severe eosinophilic ileitis. A 17-year-old male manifested acutely with eosinophilic ascites due to severe biopsy-proven subserosal eosinophilic ileitis. Isolated peritoneal fluid submitted for cytologic evaluation revealed that 65% eosinophils were present in a bloody background. The patient responded to corticosteroids, with complete resolution of his ascites. Eosinophilic gastroenteritis with subserosal involvement should be added to the list of causes for eosinophils in peritoneal fluid. The finding of eosinophilic ascites, with appropriate clinical and laboratory findings, may warrant the need to perform laparoscopic intestinal biopsies to confirm the diagnosis.

  16. Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells

    OpenAIRE

    Mishra, Himanshu Kumar

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited motor neuron diseases characterized by progressive spasticity and weakness of the lower limbs. Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal recessive HSP. SPG11 patients are clinically distinguishable from most other HSPs, by severe cortical atrophy and presence of a thin corpus callosum (TCC), associated with cognitive deficits. Partly due to l...

  17. Recurrent severe vomiting due to hyperthyroidism

    OpenAIRE

    Chen, Li-ying; Zhou, Bo; Chen, Zhou-wen; Fang, Li-zheng

    2010-01-01

    Thyrotoxicosis may present in many ways; severe vomiting as a prominent symptom of thyrotoxicosis is uncommon. In this paper, we report a 24-year-old Chinese male with hyperthyroidism who presented with recurrent severe vomiting. The patient had had intermittent vomiting for seven years and had lost approximately 15 kg of weight. Gastroscopic examinations revealed chronic gastritis and one occasion peptic ulcer. He was treated with antacid and proton pump inhibitors, but his symptoms had no r...

  18. Recurrent severe vomiting due to hyperthyroidism

    Science.gov (United States)

    Chen, Li-ying; Zhou, Bo; Chen, Zhou-wen; Fang, Li-zheng

    2010-01-01

    Thyrotoxicosis may present in many ways; severe vomiting as a prominent symptom of thyrotoxicosis is uncommon. In this paper, we report a 24-year-old Chinese male with hyperthyroidism who presented with recurrent severe vomiting. The patient had had intermittent vomiting for seven years and had lost approximately 15 kg of weight. Gastroscopic examinations revealed chronic gastritis and one occasion peptic ulcer. He was treated with antacid and proton pump inhibitors, but his symptoms had no relief. His presenting symptoms suggested hyperthyroidism and were confirmed by laboratory data. After a month of propylthiouracil therapy, his symptoms were relieved. It should be noted that hyperthyroidism patients can have unexplained vomiting, and that hyperthyroidism may coexist with peptic ulcer in rare cases. Awareness of such atypical presentations of hyperthyroidism may help to make a correct diagnosis. PMID:20205308

  19. Heart failure due to severe myocardial calcification

    International Nuclear Information System (INIS)

    Takahashi, Shouichi; Maida, Kiyoshi; Yokoyama, Hitoshi; Tanaka, Shigeo

    1993-01-01

    A 28-year-old female who had had irradiation on the chest wall at the age of 5 as a remedy for keloid granulation after burn, recently developed congestive heart failure. Severe tricuspid regurgitation was demonstrated by echocardiography with a certain calcification in the cardiac shadow on chest radiogram. Calcified right ventricle and ventricular septum were noticed operatively, which disturbed ventricular motion and also caused tricuspid valve deformity. These calcified myocardium apparently corresponded with the irradiation field. After tricuspid valve replacement, she regained physical activity satisfactorily without congestive heart failure. Because she had no other known causes of cardiac calcification such as hypercalcemia, myocarditis, myocardial infarction or renal diseases, irradiation on the chest wall could be responsible for the severe myocardial calcification. (author)

  20. BoNT-A related changes of cortical activity in patients suffering from severe hand paralysis with arm spasticity following ischemic stroke.

    Science.gov (United States)

    Veverka, Tomáš; Hluštík, Petr; Tomášová, Zuzana; Hok, Pavel; Otruba, Pavel; Král, Michal; Tüdös, Zbyněk; Zapletalová, Jana; Herzig, Roman; Krobot, Alois; Kaňovský, Petr

    2012-08-15

    Investigations were performed to localize and analyze the botulinum toxin (BoNT-A) related changes of cerebral cortex activation in chronic stroke patients suffering from severe hand paralysis with arm spasticity. Effects on task- related cerebral activation were evaluated by functional magnetic resonance imaging (fMRI). 14 patients (5 males, 9 females, mean age 55.3 years) suffering from upper limb post-stroke spasticity were investigated. The change of arm spasticity was assessed by using the modified Ashworth scale (MAS). FMRI sessions were performed before (W0), four weeks (W4) and 11 weeks (W11) after BoNT-A application. Patients were scanned while performing imaginary movement with the impaired hand. Group fMRI analysis included patient age as a covariate. BoNT-A treatment was effective in alleviation of arm spasticity. Mean MAS was at Week 0: 2.5 (SD 0.53), at Week 4: 1.45 (SD 0.38), at Week 11: 2.32 (SD 0.44). Task-related fMRI prior to the treatment showed extensive activation of bilateral frontoparietal sensorimotor cortical areas, anterior cingulate gyrus, pallidum, thalamus and cerebellum. Effective BoNT-A treatment (W4) resulted in partial reduction of active network volume in most of the observed areas, whereas BoNT-free data (W11) revealed further volume reduction in the sensorimotor network. On direct comparison, significant activation decreases associated with BoNT-A treatment were located in areas outside the classical sensorimotor system, namely, ipsilesional lateral occipital cortex, supramarginal gyrus and precuneus cortex. On comparison of W4 and W11, no activation increases were found, instead, activation further decreased in ipsilesional insular cortex, contralesional superior frontal gyrus and bilateral frontal pole. Whole brain activation patterns during BoNT-A treatment of post-stroke arm spasticity and further follow up document predominantly gradual changes both within and outside the classical sensorimotor system. Copyright © 2012

  1. Intrathecal Baclofen Pump for Spasticity

    Science.gov (United States)

    2005-01-01

    Executive Summary Objective To conduct an evidence-based analysis of the effectiveness and cost-effectiveness of intrathecal baclofen for spasticity. The Technology Spasticity is a motor disorder characterized by tight or stiff muscles that may interfere with voluntary muscle movements and is a problem for many patients with multiple sclerosis (MS), spinal cord injury (SCI), cerebral palsy (CP), and acquired brain injury (ABI).(1). Increased tone and spasm reduces mobility and independence, and interferes with activities of daily living, continence and sleep patterns. Spasticity may also be associated with significant pain or discomfort (e.g., due to poor fit in braces, footwear, or wheelchairs), skin breakdown, contractures, sleep disorders and difficulty in transfer. Goals of treatment are to decrease spasticity in order to improve range of motion, facilitate movement, reduce energy expenditure and reduce risk of contractures. Existing treatments include physical therapy, oral medications, injections of phenol or botulinum toxin, or surgical intervention. Baclofen is the oral drug most frequently prescribed for spasticity in cases of SCI and MS.(1) Baclofen is a muscle relaxant and antispasticity drug. In the brain, baclofen delivered orally has some supraspinal activity that may contribute to clinical side effects. The main adverse effects of oral baclofen include sedation, excessive weakness, dizziness, mental confusion, and somnolence.(2) The incidence of adverse effects is reported to range from 10% to 75%.(2) Ochs et al. estimated that approximately 25-30% of SCI and MS patients fail to respond to oral baclofen.(3;4) Adverse effects appear to be dose-related and may be minimized by initiating treatment at a low dose and gradually titrating upwards.(2) Adverse effects usually appear at doses >60 mg/day.(2) The rate of treatment discontinuation due to intolerable adverse effects has generally been reported to range from 4% to 27%.(2) When baclofen is

  2. The relationship between spasticity and gross motor capability in nonambulatory children with spastic cerebral palsy.

    Science.gov (United States)

    Katusic, Ana; Alimovic, Sonja

    2013-09-01

    Spasticity has been considered as a major impairment in cerebral palsy (CP), but the relationship between this impairment and motor functions is still unclear, especially in the same group of patients with CP. The aim of this investigation is to determine the relationship between spasticity and gross motor capability in nonambulatory children with spastic CP. Seventy-one children (30 boys, 41 girls) with bilateral spastic cerebral palsy and with Gross Motor Function Classification System (GMFCS) levels IV (n=34) and V (n=37) were included in the study. The spasticity level in lower limbs was evaluated using the Modified Modified Ashworth Scale and the gross motor function with the Gross Motor Function Measure (GMFM-88). Spearman's correlation analysis was used to determine the nature and the strength of the relationship. The results showed a moderate correlation between spasticity and gross motor skills (ρ=0.52 for the GMFCS level; ρ=0.57 for the GMFM-88), accounting for less than 30% of the explained variance. It seems that spasticity is just one factor among many others that could interfere with gross motor skills, even in children with severe forms of spastic CP. Knowledge of the impact of spasticity on motor skills may be useful in the setting of adequate rehabilitation strategies for nonambulatory children with spastic CP.

  3. Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Science.gov (United States)

    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

    Abstract 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

  4. Decrease of spasticity after hybrid assistive limb® training for a patient with C4 quadriplegia due to chronic SCI.

    Science.gov (United States)

    Ikumi, Akira; Kubota, Shigeki; Shimizu, Yukiyo; Kadone, Hideki; Marushima, Aiki; Ueno, Tomoyuki; Kawamoto, Hiroaki; Hada, Yasushi; Matsumura, Akira; Sankai, Yoshiyuki; Yamazaki, Masashi

    2017-09-01

    Recently, locomotor training with robotic assistance has been found effective in treating spinal cord injury (SCI). Our case report examined locomotor training using the robotic suit hybrid assistive limb (HAL) in a patient with complete C4 quadriplegia due to chronic SCI. This is the first report examining HAL in complete C4 quadriplegia. The patient was a 19-year-old man who dislocated C3/4 during judo 4 years previously. Following the injury, he underwent C3/4 posterior spinal fusion but remained paralyzed despite rehabilitation. There was muscle atrophy under C5 level and no sensation around the anus, but partial sensation of pressure remained in the limbs. The American Spinal Injury Association impairment scale was Grade A (complete motor C4 lesion). HAL training was administered in 10 sessions (twice per week). The training sessions consisted of treadmill walking with HAL. For safety, 2 physicians and 1 therapist supported the subject for balance and weight-bearing. The device's cybernic autonomous control mode provides autonomic physical support based on predefined walking patterns. We evaluated the adverse events, walking time and distance, and the difference in muscle spasticity before and after HAL-training using a modified Ashworth scale (mAs). No adverse events were observed that required discontinuation of rehabilitation. Walking distance and time increased from 25.2 meters/7.6 minutes to 148.3 meter/15 minutes. The mAs score decreased after HAL training. Our case report indicates that HAL training is feasible and effective for complete C4 quadriplegia in chronic SCI.

  5. Three Case Reports of Successful Vibration Therapy of the Plantar Fascia for Spasticity Due to Cerebral Palsy-Like Syndrome, Fetal-Type Minamata Disease.

    Science.gov (United States)

    Usuki, Fusako; Tohyama, Satsuki

    2016-04-01

    Fetal-type Minamata disease is caused by the exposure to high concentrations of methylmercury in the fetal period and shows cerebral palsy-like clinical features. Relief of spasticity is a major task of rehabilitation to improve their activities of daily living. Here we report the effect of long-term vibration therapy on bilateral lower-limb spasticity in 3 patients with fetal-type Minamata disease. We used a simple, inexpensive, and noninvasive approach with hand-held vibration massagers, which were applied to the plantar fascia at 90 Hz for 15 minutes. The effect was observed soon after the first treatment and resulted in better performance of the repetitive facilitation. Vibration therapy for 1 year improved Modified Ashworth Scale for the ankle flexors in 2 cases. The labored gait improved and gait speed increased in another case. Continued vibration therapy for another 1 year further improved Modified Ashworth Scale score and range of motion of ankle dorsiflexion in 1 case. This case showed the decreased amplitude of soleus H-reflex after the 15-minute vibration therapy, suggesting that α-motor neuron excitability was suppressed. Vibration therapy using a hand-held vibration massager may offer safe and effective treatment for lower-limb spasticity in patients with chronic neurological disorders.

  6. Study design and methods of the BoTULS trial: a randomised controlled trial to evaluate the clinical effect and cost effectiveness of treating upper limb spasticity due to stroke with botulinum toxin type A

    Directory of Open Access Journals (Sweden)

    Graham Laura

    2008-10-01

    Full Text Available Abstract Background Following a stroke, 55–75% of patients experience upper limb problems in the longer term. Upper limb spasticity may cause pain, deformity and reduced function, affecting mood and independence. Botulinum toxin is used increasingly to treat focal spasticity, but its impact on upper limb function after stroke is unclear. The aim of this study is to evaluate the clinical and cost effectiveness of botulinum toxin type A plus an upper limb therapy programme in the treatment of post stroke upper limb spasticity. Methods Trial design : A multi-centre open label parallel group randomised controlled trial and economic evaluation. Participants : Adults with upper limb spasticity at the shoulder, elbow, wrist or hand and reduced upper limb function due to stroke more than 1 month previously. Interventions : Botulinum toxin type A plus upper limb therapy (intervention group or upper limb therapy alone (control group. Outcomes : Outcome assessments are undertaken at 1, 3 and 12 months. The primary outcome is upper limb function one month after study entry measured by the Action Research Arm Test (ARAT. Secondary outcomes include: spasticity (Modified Ashworth Scale; grip strength; dexterity (Nine Hole Peg Test; disability (Barthel Activities of Daily Living Index; quality of life (Stroke Impact Scale, Euroqol EQ-5D and attainment of patient-selected goals (Canadian Occupational Performance Measure. Health and social services resource use, adverse events, use of other antispasticity treatments and patient views on the treatment will be compared. Participants are clinically reassessed at 3, 6 and 9 months to determine the need for repeat botulinum toxin type A and/or therapy. Randomisation : A web based central independent randomisation service. Blinding : Outcome assessments are undertaken by an assessor who is blinded to the randomisation group. Sample size : 332 participants provide 80% power to detect a 15% difference in treatment

  7. [Spasticity and dynamic plantar pressure distribution measurements in hemiplegic spastic children].

    Science.gov (United States)

    Femery, V; Moretto, P; Renaut, H; Thévenon, A

    2001-02-01

    The aim of this study was to analyse the plantar pressure distribution in nine hemiplegic spastic children to illustrate the dynamic alteration during stance phase linked spasticity grade. The graduation of the lower limbs muscle tone related to the Aschworth spasticity scale enabled us to identify two groups of hemiplegics subjects. The groups Asch 1 and Asch 3 have respectively presented a low and a strong spasticity. The peak pressures during consecutive gait cycles were determined under the feet of 30 healthy subjects and two cerebral palsy groups using a wearable footprint analysis system. A statistical study showed a similarity between the two disabled groups. Peak pressures under the midfoot were significantly higher compared to the control group. While the plantar pressure distribution profile was specific for each group under all other anatomical structures. The significant alterations were observed under the forefoot and hallux. Spasticity modifies the foot contact to ground and leads to a specific plantar pressure distribution profile linked to the spasticity grade. The equinovarus with clawed toes deformity due to higher spasticity seems to be an important factor in terminal stance phase perturbations. However spastic hemiplegic subjects seem to adopt a gait pattern in agreement with stability optimization criteria.

  8. Nest mortality of sagebrush songbirds due to a severe hailstorm

    Science.gov (United States)

    Hightower, Jessica N.; Carlisle, Jason D.; Chalfoun, Anna D.

    2018-01-01

    Demographic assessments of nesting birds typically focus on failures due to nest predation or brood parasitism. Extreme weather events such as hailstorms, however, can also destroy eggs and injure or kill juvenile and adult birds at the nest. We documented the effects of a severe hailstorm on 3 species of sagebrush-associated songbirds: Sage Thrasher (Oreoscoptes montanus), Brewer's Sparrow (Spizella breweri), and Vesper Sparrow (Pooecetes gramineus), nesting at eight 24 ha study plots in central Wyoming, USA. Across all plots, 17% of 128 nests failed due to the hailstorm; however, all failed nests were located at a subset of study plots (n = 3) where the hailstorm was most intense, and 45% of all nests failures on those plots were due to hail. Mortality rates varied by species, nest architecture, and nest placement. Nests with more robust architecture and those sited more deeply under the shrub canopy were more likely to survive the hailstorm, suggesting that natural history traits may modulate mortality risk due to hailstorms. While sporadic in nature, hailstorms may represent a significant source of nest failure to songbirds in certain locations, especially with increasing storm frequency and severity forecasted in some regions with ongoing climate change.

  9. Computed tomographic findings in children with spastic diplegia

    International Nuclear Information System (INIS)

    Yokochi, Kenji; Horie, Masayo; Inukai, Kazuhisa; Kito, Hideyuki; Shimabukuro, Satoshi; Kodama, Kazuo.

    1989-01-01

    Computed tomographic findings of 46 children with spastic diplegia examined at nine months to three years of age corrected for preterm births were analyzed. Both the size of the lateral ventricles measured by the width of the anterior horns, and the volume of the extracerebral low-density areas were enlarged in some patiens. Both enlargements did not, however, correlate to the severity of the motor abnormality in the patients. The low-density areas of the periventricular white matter, especially adjacent to the trigone, were reduced in many children, probably due to the atrophy of the cerebral white matter having periventricular leukomalacia. The anterior expansion of the white matter reduction from the trigone corresponded to the severer motor abnormality in the children with spastic diplegia. (author)

  10. Pharmacological management of spasticity in multiple sclerosis

    DEFF Research Database (Denmark)

    Otero-Romero, Susana; Sastre-Garriga, Jaume; Comi, Giancarlo

    2016-01-01

    Background and objectives: Treatment of spasticity poses a major challenge given the complex clinical presentation and variable efficacy and safety profiles of available drugs. We present a systematic review of the pharmacological treatment of spasticity in multiple sclerosis (MS) patients. Methods...... improvement is seen with the previous drugs. Nabiximols has a positive effect when used as add-on therapy in patients with poor response and/or tolerance to first-line oral treatments. Despite limited evidence, intrathecal baclofen and intrathecal phenol show a positive effect in severe spasticity...... and suboptimal response to oral drugs. Conclusion: The available studies on spasticity treatment offer some insight to guide clinical practice but are of variable methodological quality. Large, well-designed trials are needed to confirm the effectiveness of antispasticity agents and to produce evidence...

  11. Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy.

    Science.gov (United States)

    Akpolat, Yusuf T; Fegale, Ben; Cheng, Wayne K

    2015-08-01

    Severe atlantoaxial instability due to os odontoideum in a patient with spastic cerebral palsy has not been well described. There is no consensus on treatment, particularly with regard to conservative or surgical options. Our patient was a 9-year-old girl with spastic cerebral palsy and unstable os odontoideum as an incidental finding. During the waiting period for elective surgical treatment, the patient developed respiratory compromise. Surgery was performed to reduce the subluxation and for C1-C2 arthrodesis and the girl regained baseline respiratory function. A CT scan was obtained 1 year after the initial surgery and revealed adequate maintenance of reduction and patency of the spinal canal. This patient highlights the fact that unstable os odontoideum can cause mortality due to respiratory distress in patients with spastic cerebral palsy. This is an important factor in deciding treatment options for cerebral palsy patients with low functional demand. We review the relevant literature. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. [A case of medulla oblongata compression by tortuous vertebral arteries presenting with spastic quadriplegia].

    Science.gov (United States)

    Kamada, Takashi; Tateishi, Takahisa; Yamashita, Tamayo; Nagata, Shinji; Ohyagi, Yasumasa; Kira, Jun-Ichi

    2013-01-01

    We report a 58-year-old man showing spastic paraparesis due to medulla oblongata compression by tortuous vertebral arteries. He noticed weakness of both legs and gait disturbance at the age of 58 years and his symptoms progressively worsened during the following several months. General physical findings were normal. Blood pressure was normal and there were no signs of arteriosclerosis. Neurological examination on admission revealed lower-limb-dominant spasticity in all four extremities, lower-limb weakness, hyperreflexia in all extremities with positive Wartenberg's, Babinski's and Chaddock's signs, mild hypesthesia and hypopallesthesia in both lower limbs, and spastic gait. Cranial nerves were all normal. Serum was negative for antibodies against human T-cell lymphotropic virus-1 antibody. Nerve conduction and needle electromyographic studies of all four limbs revealed normal findings. Cervical, thoracic and lumbo-sacral magnetic resonance imaging (MRI) findings were all normal. Brain MRI and magnetic resonance angiography demonstrated bilateral tortuous vertebral arteries compressing the medulla oblongata. Neurovascular decompression of the right vertebral artery was performed because compression of the right side was more severe than that of the left side. Post-operative MRI revealed outward translocation of the right vertebral artery and relieved compression of the medulla oblongata on the right side. The patient's symptoms and neurological findings improved gradually after the operation. Bilateral pyramidal tract signs without cranial nerve dysfunction due to compression of the medulla oblongata by tortuous vertebral arteries are extremely rare and clinically indistinguishable from hereditary spastic paraplegia (HSP). Although we did not perform a genetic test for HSP, we consider that the spastic paraparesis and mild lower-limb hypesthesia were caused by compression of the medulla oblongata by bilateral tortuous vertebral arteries based on the post

  13. Spasticity complicating metrizamide myelography

    Energy Technology Data Exchange (ETDEWEB)

    Earl, H M; Earl, C J; Kendall, B E

    1985-09-01

    Temporary but considerable increase in spasticity following myelography using metrizamide at 300 mgsI/ml concentration occurred in 4 patients. In 3 of the patients the diagnosis is uncertain, but it is likely to be some form of degenerative disease involving motor pathways in two of them; the fourth case has cervical spondylotic myelopathy. The spasticity might be related to the anticholinesterase activity of metrizamide or to competative inhibition by the deoxyglucose component of the metrizamide molecule of endogenous glucose metabolism.

  14. Using Telemedicine to Improve Spasticity Diagnosis Rates

    Science.gov (United States)

    2018-02-20

    Spasticity, Muscle; Muscular Diseases; Musculoskeletal Disease; Muscle Hypertonia; Muscle Spasticity; Neuromuscular Manifestations; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations

  15. Severe acute caffeine poisoning due to intradermal injections: Mesotherapy hazard

    Directory of Open Access Journals (Sweden)

    Perković-Vukčević Nataša

    2012-01-01

    Full Text Available Introduction. Caffeine is indicated in the treatment of migraine headaches, as well as neonatal apnea and bradycardia syndrome. In mild poisoning, the most prevalent symptoms are nausea, vomiting, diarrhea, tremor, anxiety and headache. In more severe cases, symptoms consist of heart rythym abnormalities, myocardial infarction and seizures. Due to its common lipolytic effect, caffeine is used in mesotherapy, usually in combination with drugs of similar effect. We presented a patient with acute iatrogenic caffeine poisoning. Case report. A 51-year-old woman, with preexisting hypertension and hypertensive cardiomyopathy was subjected to cosmetic treatment in order to remove fat by intradermal caffeine injections. During the treatment the patient felt sickness, an urge to vomit, and a pronounced deterioration of general condition. Upon examination, the patient exhibited somnolence, hypotension and nonsustained ventricular tachycardia, which was sufficient enough evidence for further hospitalization. On admission to the intensive care unit the patient was anxious with increased heart rate, normotensive, with cold, damp skin, and visible traces of injection sites with surrounding hematomas on the anterior abdominal wall. Paroxysmal supraventricular tachycardia (PSVT on electrocardiographic monitoring was found. The laboratory analysis determined a lowered potassium level of 2.1 mmol/L (normal range 3,5 - 5.2 mmol/L, and a toxicological analysis (liquid chromatography with ultraviolet detection proved a toxic concentration of caffeine in plasma - 85.03 mg/L (toxic concentration over 25 mg/L. On application of intensive therapy, antiarrhythmics, and substitution of potassium, as well as both symptomatic and supportive therapy, there was a significant recovery. The patient was discharged without any sequele within four days. Conclusion. A presented rare iatrogenic acute caffeine poisoning occured due to massive absorption of caffeine from the

  16. Severe acute caffeine poisoning due to intradermal injections: mesotherapy hazard.

    Science.gov (United States)

    Vukcević, Natasa Perković; Babić, Gordana; Segrt, Zoran; Ercegović, Gordana Vuković; Janković, Snezana; Aćimović, Ljubomir

    2012-08-01

    Caffeine is indicated in the treatment of migraine headaches, as well as neonatal apnea and bradycardia syndrome. In mild poisoning, the most prevalent symptoms are nausea, vomiting, diarrhea, tremor, anxiety and headache. In more severe cases, symptoms consist of heart rythym abnormalities, myocardial infarction and seizures. Due to its common lipolytic effect, caffeine is used in mesotherapy, usually in combination with drugs of similar effect. We presented a patient with acute iatrogenic caffeine poisoning. A 51-year-old woman, with preexisting hypertension and hypertensive cardiomyopathy was subjected to cosmetic treatment in order to remove fat by intradermal caffeine injections. During the treatment the patient felt sickness, an urge to vomit, and a pronounced deterioration of general condition. Upon examination, the patient exhibited somnolence, hypotension and nonsustained ventricular tachycardia, which was sufficient enough evidence for further hospitalization. On admission to the intensive care unit the patient was anxious with increased heart rate, normotensive, with cold, damp skin, and visible traces of injection sites with surrounding hematomas on the anterior abdominal wall. Paroxysmal supraventricular tachycardia (PSVT) on electrocardiographic monitoring was found. The laboratory analysis determined a lowered potassium level of 2.1 mmol/L (normal range 3,5 - 5.2 mmol/L), and a toxicological analysis (liquid chromatography with ultraviolet detection) proved a toxic concentration of caffeine in plasma - 85.03 mg/L (toxic concentration over 25 mg/L). On application of intensive therapy, antiarrhythmics, and substitution of potassium, as well as both symptomatic and supportive therapy, there was a significant recovery. The patient was discharged without any sequele within four days. A presented rare iatrogenic acute caffeine poisoning occured due to massive absorption of caffeine from the subcutaneous adipose tissue into the circulation when injected

  17. Central Sleep Apnea in Patients due to Severe Aortic Stenosis

    Directory of Open Access Journals (Sweden)

    Christian Prinz

    2010-01-01

    Full Text Available History. We report about the course of central sleep apnea (CSA in 3 patients (70.3±15.2 years with severe aortic stenosis (AS (AVA≤1.0 cm2, NYHA 2.7±1.4. Investigations. Every patient received echocardiography, left/right-heart catheterization, and cardiorespiratory polygraphy before and 6 months after surgical aortic valve replacement (without right-heart catheterization during follow up. Course. Preoperatively all patients demonstrated reduced systolic left ventricular function (EF <55%. They had elevated pulmoraryarterialy pressures and severe CSA. After valve replacement left ventricular function and exercise capacity improved, as well as the severity of CSA. Conclusion. Patients with severe AS can develop CSA, which seems to improve after surgery. Patients with severe AS should be screened for CSA, because CSA might be an additional risk factor and hint that myocardial adaptation is exhausting.

  18. Severe hypokalaemic paralysis and rhabdomyolysis due to ingestion of liquorice

    NARCIS (Netherlands)

    A.E. van den Bosch (Annemien); J.M. van der Klooster; D.M. Zuidgeest; R.J.T. Ouwendijk (Rob); A. Dees

    2005-01-01

    textabstractChronic ingestion of liquorice induces a syndrome with findings similar to those in primary hyperaldosteronism. We describe a patient who, with a plasma K+ of 1.8 mmol/l, showed a paralysis and severe rhabdomyolysis after the habitual consumption of natural liquorice.

  19. Case Report: Recurrent severe vomiting due to hyperthyroidism.

    Science.gov (United States)

    Chen, Li-ying; Zhou, Bo; Chen, Zhou-wen; Fang, Li-zheng

    2010-03-01

    Thyrotoxicosis may present in many ways; severe vomiting as a prominent symptom of thyrotoxicosis is uncommon. In this paper, we report a 24-year-old Chinese male with hyperthyroidism who presented with recurrent severe vomiting. The patient had had intermittent vomiting for seven years and had lost approximately 15 kg of weight. Gastroscopic examinations revealed chronic gastritis and one occasion peptic ulcer. He was treated with antacid and proton pump inhibitors, but his symptoms had no relief. His presenting symptoms suggested hyperthyroidism and were confirmed by laboratory data. After a month of propylthiouracil therapy, his symptoms were relieved. It should be noted that hyperthyroidism patients can have unexplained vomiting, and that hyperthyroidism may coexist with peptic ulcer in rare cases. Awareness of such atypical presentations of hyperthyroidism may help to make a correct diagnosis.

  20. Severe dyspnea due to a giant antrochoanal polyp

    OpenAIRE

    Coloma-Milano M; Gil-Carcedo-Sañudo E; Gil-Carcedo-García LM.; Martín-Batista S; Madrigal-Revuelta M; Vallejo-Valdezate LA

    2012-01-01

    SummaryIntroduction: The antrochoanal polyp is a prevalent pathology in teenagers and young adults. It usually presents with nasal obstruction.Patient and method: Case report: An 80-year-old male with alcoholic encephalopathy, chronic bronchial disease of unknown etiology and polypoid chronic rhinosinusitis came to the emergency service with severe dyspnea without laryngeal features.Anterior rhinoscopy showed a polypoid mass in left nostril that prevented the visualization with nasal endoscop...

  1. Severe deterioration of psoriasis due to an insulinoma.

    LENUS (Irish Health Repository)

    Field, S

    2008-03-01

    We report a case of a 56-year-old woman who presented with a severe exacerbation of psoriasis with concurrent hypoglycaemic episodes. Methotrexate 17.5 mg weekly was required to control her psoriasis. Investigation of her hypoglycaemia showed raised levels of insulin, C-peptide and proinsulin. Radiological investigation showed a tumour at the tail of the pancreas and the diagnosis was insulinoma. A spleen-preserving distal pancreatectomy was performed and the hypoglycaemic symptoms resolved. Immediately following the pancreatectomy, methotrexate was stopped and the patient\\'s psoriasis went into remission. During a 2-year follow-up, she has required only minimal topical treatment for her skin.

  2. [Severe iatrogenic airway obstruction due to lingual lymphangioma].

    Science.gov (United States)

    Segado Arenas, A; Flores González, J-C; Rubio Quiñones, F; Quintero Otero, S; Hernández González, A; Pantoja Rosso, S

    2011-09-01

    Lymphangioma of the tongue is a rare and benign tumour involving congenital and cystic abnormalities derived from lymphatic vessels. Treatment modalities include surgery and a large number of different intralesional injections of sclerosing agents. Presently, OK-432 (Picibanil(®)) is the preferred sclerosant and when administered intralesionally will result in inflammation, sclerosis, and cicatricial contraction of the lesion. We report a case of microcystic lymphangioma of the tongue in a 5-year-old boy treated with an intralesional injection of OK-432. In the immediate postoperative period, the patient suffered severe diffuse swelling, progressive upper airway obstruction with inspiratory stridor, and respiratory distress requiring emergency fiberoptic nasotracheal intubation. Although OK-432 injections are found to be safe and effective as a first line of treatment for lymphangiomas, local swelling with potentially life-threatening airway compromise should be anticipated, especially when treating lesions near the upper airway. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  3. [Maternal death from severe malaria due to Plasmodium vivax].

    Science.gov (United States)

    Arróspide, Nancy; Espinoza, Máximo Manuel; Miranda-Choque, Edwin; Mayta-Tristán, Percy; Legua, Pedro; Cabezas, César

    2016-06-01

    Here we describe the case of a 19-year-old woman, in her 29th week of gestation, who was from Llumpe (Ancash, Peru) and had a history of traveling to Chanchamayo (Junín, Peru) and Rinconada (Ancash, Peru). The patient presented at Chacas Hospital (Chacas, Ancash, Peru) with general malaise, dehydration, respiratory distress, jaundice, the sensation of thermal rise, and abdominal pain. Analysis of blood smears revealed 60% hemoparasites. She was transferred to Ramos Guardia Hospital (Huaraz, Peru) where she presented increasing respiratory distress, choluria, hematuria, and decreased urine output, moreover she was positive for Plasmodium. From there she was transferred to Cayetano Heredia Hospital (Lima, Peru), where she was admitted to the intensive care unit (ICU) with multiple organ failure, stillbirth, and leading to death. She underwent mechanical ventilation, was administered clindamycin, and was prescribed quinine, which she did not received due a lack by availability. The evolution of the illness was torpid, and she ultimately developed multiple organ failure and died. Plasmodium vivax infection was confirmed. Accordingly, we emphasize the importance of improving our diagnostic capabilities and management techniques to enable clinicians to provide adequate and timely treatment.

  4. Dental implants for severely atrophied jaws due to ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Preetha Balaji

    2015-01-01

    Full Text Available The aim was to present the successful esthetical and functional rehabilitation of partial anodontia in a case of severe ectodermal dysplasia with complete atrophy of the jaws. A 17-year-old male with Class III malocclusion with partial anodontia sought dental implant treatment. His expectation was that of Class I occlusion. The challenge in the case was to match the expectation, reality, and the clinical possibilities. Ridge augmentation was performed with a combination of rib graft and recombinant human bone morphogenetic protein-2. Simultaneously, 6 implants (Nobel Biocare™ - Tapered Groovy were placed in maxillary arch and 10 in the mandible. Simultaneous placement ensured faster and better osseointegration though a mild compromise of the primary stability was observed initially. After adequate healing, Customized Zirconia Procera™ system was used to build the framework. Zirconia crown was cemented to the framework. Radiological and clinical evidence of osseointegration was observed in all 16 dental implants. Successful conversion of Class III to Class I occlusion was achieved with the combination of preprosthetic alveolar ridge augmentation, Procera™ Implant Bridge system. Abnormal angulations and or placement of dental implants would result in failure of the implant. Hence conversion of Class III to Class I occlusion needs complete and complex treatment planning so that the entire masticatory apparatus is sufficiently remodeled. Planning should consider the resultant vectors that would otherwise result in failure of framework or compromise the secondary stability of the dental implant during function. A successful case of rehabilitation of complex partial anodontia is presented.

  5. Quantifying spasticity in individual muscles using shear wave elastography

    Directory of Open Access Journals (Sweden)

    Sarah F. Eby, BS

    2017-06-01

    Full Text Available Spasticity is common following stroke; however, high subject variability and unreliable measurement techniques limit research and treatment advances. Our objective was to investigate the use of shear wave elastography (SWE to characterize the spastic reflex in the biceps brachii during passive elbow extension in an individual with spasticity. The patient was a 42-year-old right-hand-dominant male with history of right middle cerebral artery-distribution ischemic infarction causing spastic left hemiparesis. We compared Fugl-Meyer scores (numerical evaluation of motor function, sensation, motion, and pain, Modified Ashworth scores (most commonly used clinical assessment of spasticity, and SWE measures of bilateral biceps brachii during passive elbow extension. We detected a catch that featured markedly increased stiffness of the brachialis muscle during several trials of the contralateral limb, especially at higher extension velocities. SWE was able to detect velocity-related increases in stiffness with extension of the contralateral limb, likely indicative of the spastic reflex. This study offers optimism that SWE can provide a rapid, real-time, quantitative technique that is readily accessible to clinicians for evaluating spasticity.

  6. Hereditary spastic paraplegia.

    Science.gov (United States)

    Blackstone, Craig

    2018-01-01

    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic and extraneurologic features. The HSPs are among the most genetically diverse neurologic disorders, with well over 70 distinct genetic loci, for which about 60 mutated genes have already been identified. Numerous studies elucidating the molecular pathogenesis underlying HSPs have highlighted the importance of basic cellular functions - especially membrane trafficking, mitochondrial function, organelle shaping and biogenesis, axon transport, and lipid/cholesterol metabolism - in axon development and maintenance. An encouragingly small number of converging cellular pathogenic themes have been identified for the most common HSPs, and some of these pathways present compelling targets for future therapies. Copyright © 2018 Elsevier B.V. All rights reserved.

  7. Intrathecal baclofen pump for spasticity: an evidence-based analysis.

    Science.gov (United States)

    2005-01-01

    To conduct an evidence-based analysis of the effectiveness and cost-effectiveness of intrathecal baclofen for spasticity. Spasticity is a motor disorder characterized by tight or stiff muscles that may interfere with voluntary muscle movements and is a problem for many patients with multiple sclerosis (MS), spinal cord injury (SCI), cerebral palsy (CP), and acquired brain injury (ABI).(1). Increased tone and spasm reduces mobility and independence, and interferes with activities of daily living, continence and sleep patterns. Spasticity may also be associated with significant pain or discomfort (e.g., due to poor fit in braces, footwear, or wheelchairs), skin breakdown, contractures, sleep disorders and difficulty in transfer. Goals of treatment are to decrease spasticity in order to improve range of motion, facilitate movement, reduce energy expenditure and reduce risk of contractures. Existing treatments include physical therapy, oral medications, injections of phenol or botulinum toxin, or surgical intervention. Baclofen is the oral drug most frequently prescribed for spasticity in cases of SCI and MS.(1) Baclofen is a muscle relaxant and antispasticity drug. In the brain, baclofen delivered orally has some supraspinal activity that may contribute to clinical side effects. The main adverse effects of oral baclofen include sedation, excessive weakness, dizziness, mental confusion, and somnolence.(2) The incidence of adverse effects is reported to range from 10% to 75%.(2) Ochs et al. estimated that approximately 25-30% of SCI and MS patients fail to respond to oral baclofen.(3;4) Adverse effects appear to be dose-related and may be minimized by initiating treatment at a low dose and gradually titrating upwards.(2) Adverse effects usually appear at doses >60 mg/day.(2) The rate of treatment discontinuation due to intolerable adverse effects has generally been reported to range from 4% to 27%.(2) When baclofen is administered orally, only a small portion of the

  8. Treatment of severe spacticity in multiple sclerosis by continuous intrathecal baclofen

    Directory of Open Access Journals (Sweden)

    Perić Predrag

    2006-01-01

    Full Text Available Background. Successful treatment of severe spasticity represents an imperative of symptomatic therapy of multiple sclerosis (MS due to a significant improvement of physical, psychic and social rehabilitation of MS patients, as well as a longterm cost savings for the additional treatments of conditions arising from uncontrolled severe spasticity. Continuous intrathecal administration of baclofen (ITB, using a subcutaneously implanted programmable infusion pump, is a minimally invasive, reversible method for the treatment of severe diffuse spasticity of the spinal origin. Case report. The first two cases in our country, treated by ITB due to severe spasticity caused by MS, were reported. Despite the local complications of surgical wound healing above the implanted components of the ITB-system in one patient, the optimal reduction of spasticity the with complete elimination of spastic pain was obtained in both patients. Conclusion. Our initial experiences confirmed ITB as a safe and effective therapeutical option for the treatment of intractable spasticity in patients with MS. Major prerequisites for this were adequate patient selection and good control of the basic disease. The use of the minimal invasive implantation technique and the experience in choosing of the adequate ITB-system components, could successfully prevent the occurrence of local complications related to the impaired healing of the ITB-system implantation site.

  9. Spasticity and Its Contribution to Hypertonia in Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Lynn Bar-On

    2015-01-01

    Full Text Available Spasticity is considered an important neural contributor to muscle hypertonia in children with cerebral palsy (CP. It is most often treated with antispasticity medication, such as Botulinum Toxin-A. However, treatment response is highly variable. Part of this variability may be due to the inability of clinical tests to differentiate between the neural (e.g., spasticity and nonneural (e.g., soft tissue properties contributions to hypertonia, leading to the terms “spasticity” and “hypertonia” often being used interchangeably. Recent advancements in instrumented spasticity assessments offer objective measurement methods for distinction and quantification of hypertonia components. These methods can be applied in clinical settings and their results used to fine-tune and improve treatment. We reviewed current advancements and new insights with respect to quantifying spasticity and its contribution to muscle hypertonia in children with CP. First, we revisit what is known about spasticity in children with CP, including the various definitions and its pathophysiology. Second, we summarize the state of the art on instrumented spasticity assessment in CP and review the parameters developed to quantify the neural and nonneural components of hypertonia. Lastly, the impact these quantitative parameters have on clinical decision-making is considered and recommendations for future clinical and research investigations are discussed.

  10. The Adverse Effect of Spasticity on 3-Month Poststroke Outcome Using a Population-Based Model

    Directory of Open Access Journals (Sweden)

    S. R. Belagaje

    2014-01-01

    Full Text Available Several devices and medications have been used to address poststroke spasticity. Yet, spasticity’s impact on outcomes remains controversial. Using data from a cohort of 460 ischemic stroke patients, we previously published a validated multivariable regression model for predicting 3-month modified Rankin Score (mRS as an indicator of functional outcome. Here, we tested whether including spasticity improved model fit and estimated the effect spasticity had on the outcome. Spasticity was defined by a positive response to the question “Did you have spasticity following your stroke?” on direct interview at 3 months from stroke onset. Patients who had expired by 90 days (n=30 or did not have spasticity data available (n=102 were excluded. Spasticity affected the 3-month functional status (β=0.420, 95 CI=0.194 to 0.645 after accounting for age, diabetes, leukoaraiosis, and retrospective NIHSS. Using spasticity as a covariable, the model’s R2 changed from 0.599 to 0.622. In our model, the presence of spasticity in the cohort was associated with a worsened 3-month mRS by an average of 0.4 after adjusting for known covariables. This significant adverse effect on functional outcomes adds predictive value beyond previously established factors.

  11. [Experience in using xeomin in the treatment of arm and hand spasticity in the early rehabilitation phase of stroke].

    Science.gov (United States)

    Kostenko, E V; Petrova, L V; Ganzhula, P A; Lisenker, L N; Otcheskaia, O V; Khozova, A A; Boĭko, A N

    2012-01-01

    To reduce arm and hand spasticity, 28 patients in the early rehabilitation phase of ischemic hemisphere stroke received injections of the botulinum toxin A preparation xeomin in the content of complex rehabilitation programs. The following muscles: m. biceps brachii, m. flexor digitorum profundus, m. flexor digitorum superficialis, m. flexor carpi ulnaris, m. flexor carpi radialis were injected according to standard scheme. The total dose of drug was 200U in moderate (2-3 scores on the Ashworth scale) and 300U in marked (3-4 scores on the Ashworth scale) spasticity. Efficacy and safety of treatment was assessed at baseline and 2, 4, 8, 12, 16 weeks after injections. Xeomin significantly (parm (due to patient's and caregiver's reports) remained for to 12 weeks. The treatment was most effective in the group of patients with moderate spasticity. The correlation analysis confirmed that the severity of spasticity increased with the disease duration that reduced rehabilitation efficiency. The treatment with xeomin was safe, no serious side-effects were found.

  12. Understanding spasticity from patients' perspectives over time.

    Science.gov (United States)

    Bhimani, Rozina H; McAlpine, Cynthia Peden; Henly, Susan J

    2012-11-01

      The purpose of this paper was to report patients' understanding and perceptions of personal spasticity experiences over time.   Spasticity is an unpleasant and poorly understood experience associated with upper motor neuron disease.   An original qualitative study was conducted in 2008-2009.   Content analysis was used to extract meaning from the responses of 23 patients to semi-structured interviews during 7 days of acute rehabilitation for neurological diseases associated with spasticity. Findings.  Patients used words reflecting muscle tone and spasms to describe spasticity. Themes reflecting the spasticity experience over time were Ambiguous Experiences, Navigating Symptom Experience, Wounded Self, and Unending Journey.   Spasticity as experienced is complex, involving a wide range of unusual sensations sensitive to stressors in everyday life. Clinical evaluation of spasticity should include patient reports. Knowledge about patient word choice used to describe spasticity can enhance communication with healthcare providers. © 2012 Blackwell Publishing Ltd.

  13. The prevalence of depression in hereditary spastic paraplegia.

    Science.gov (United States)

    Vahter, L; Braschinsky, M; Haldre, S; Gross-Paju, K

    2009-09-01

    To evaluate the prevalence of depression and sensitivity and specificity of the single-item interview 'Are you depressed?' for people with hereditary spastic paraplegia in Estonia. Single-item interview 'Are you depressed?' was used as a screening question for depression; all participants then completed the Beck Depression Inventory. People with hereditary spastic paraplegia identified from the epidemiological database who agreed to participate in the study. Beck Depression Inventory, clinical interview. The epidemiological database consisted of 59 patients with clinically confirmed diagnosis of hereditary spastic paraplegia. Forty-eight of these consented to participate in the study. The Beck Depression Inventory score was higher than cut-off point in 58% (28/48) and lower in 42% (20/48). Of the study group, 44% (21/48) had mild, 13% (6/48) moderate and one person revealed severe depression. There was a statistically significant correlation between Beck Depression Inventory score and level of mobility; no other significant correlations with other measures were detected. Of the participants, 54% (26/48) had subjective complaints about depression and answered 'Yes' to the single-item interview 'Are you depressed?'. The sensitivity of the one-item interview in the hereditary spastic paraplegia group was 75% and specificity 75%. Our results show that mild depression is prevalent among people with hereditary spastic paraplegia. Although the single question may be helpful, it cannot be relied upon entirely when assessing a person for depression.

  14. Spasticity-assessment: a review

    DEFF Research Database (Denmark)

    Biering-Sørensen, F.; Nielsen, Jens Bo; Klinge, Klaus Peter

    2006-01-01

    Study design:Review of the literature on the validity and reliability of assessment of spasticity and spasms.Objectives:Evaluate the most frequently used methods for assessment of spasticity and spasms, with particular focus on individuals with spinal cord lesions.Setting:Clinic for Spinal Cord...... Injuries, Rigshospitalet, University Hospital of Copenhagen, and Department of Medical Physiology, University of Copenhagen, Denmark.Methods:The assessment methods are grouped into clinical, biomechanical and electrophysiological, and the correlation between these is evaluated.Results:Clinical methods......: For assessment of spasticity, the Ashworth and the modified Ashworth scales are commonly used. They provide a semiquantitative measure of the resistance to passive movement, but have limited interrater reliability. Guidelines for the testing procedures should be adhered to. Spasm frequency scales seem...

  15. Cost-Effectiveness of Treating Upper Limb Spasticity Due to Stroke with Botulinum Toxin Type A: Results from the Botulinum Toxin for the Upper Limb after Stroke (BoTULS Trial

    Directory of Open Access Journals (Sweden)

    Nick Steen

    2012-11-01

    Full Text Available Stroke imposes significant burdens on health services and society, and as such there is a growing need to assess the cost-effectiveness of stroke treatment to ensure maximum benefit is derived from limited resources. This study compared the cost-effectiveness of treating post-stroke upper limb spasticity with botulinum toxin type A plus an upper limb therapy programme against the therapy programme alone. Data on resource use and health outcomes were prospectively collected for 333 patients with post-stroke upper limb spasticity taking part in a randomized trial and combined to estimate the incremental cost per quality adjusted life year (QALY gained of botulinum toxin type A plus therapy relative to therapy alone. The base case incremental cost-effectiveness ratio (ICER of botulinum toxin type A plus therapy was £93,500 per QALY gained. The probability of botulinum toxin type A plus therapy being cost-effective at the England and Wales cost-effectiveness threshold value of £20,000 per QALY was 0.36. The point estimates of the ICER remained above £20,000 per QALY for a range of sensitivity analyses, and the probability of botulinum toxin type A plus therapy being cost-effective at the threshold value did not exceed 0.39, regardless of the assumptions made.

  16. Modulation of back geometry in children with spastic diplegic ...

    African Journals Online (AJOL)

    Gehan H. El-Meniawy

    2011-11-29

    Nov 29, 2011 ... disability in childhood and may affect the child on several ... Children with spastic diplegia have significant weakness in ... The Formetric instrument system represents a reliable meth- .... The child was almost always feeling some degree of gentle ..... Growth and Developmental Disorder in Children and its.

  17. Severe hypertension due to renal polar artery stenosis in an adolescent treated with coil embolization

    Energy Technology Data Exchange (ETDEWEB)

    Docx, Martine K. [Koningin Paola Kinderziekenhuis, Department of Paediatrics, Chronic Diseases and Hypertension, Antwerp (Belgium); Vandenberghe, Philippe [Koningin Paola Kinderziekenhuis, Department of Paediatric Cardiology, Antwerp (Belgium); Maleux, Geert [University Hospitals Leuven, Department of Radiology, Leuven (Belgium); Gewillig, Marc [University Hospitals Leuven, Department of Paediatric Cardiology, Leuven (Belgium); Mertens, Luc [Hospital for Sick Children, Paediatric Cardiology, Toronto (Canada)

    2009-11-15

    A 12-year-old boy presented with severe arterial hypertension due to a severe subsegmental renal artery stenosis. Treatment consisted of selective embolization of the stenosed polar artery, which resulted in near normalization of the arterial pressures. Renal artery stenosis should always be considered, even in young adolescents, as a cause for arterial hypertension. Only selective angiography was able to demonstrate the subsegmental artery stenosis in this patient. (orig.)

  18. Severe hypertension due to renal polar artery stenosis in an adolescent treated with coil embolization

    International Nuclear Information System (INIS)

    Docx, Martine K.; Vandenberghe, Philippe; Maleux, Geert; Gewillig, Marc; Mertens, Luc

    2009-01-01

    A 12-year-old boy presented with severe arterial hypertension due to a severe subsegmental renal artery stenosis. Treatment consisted of selective embolization of the stenosed polar artery, which resulted in near normalization of the arterial pressures. Renal artery stenosis should always be considered, even in young adolescents, as a cause for arterial hypertension. Only selective angiography was able to demonstrate the subsegmental artery stenosis in this patient. (orig.)

  19. Two cases of severe tracheal stenosis due to advanced adenoid cystic carcinoma of the trachea

    Energy Technology Data Exchange (ETDEWEB)

    Yuasa, Hiroshi; Akaogi, Eiichi; Morita, Riichiro; Onizuka, Masataka; Mitsui, Kiyofumi [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Tsuji, Hirohiko

    1991-12-01

    Two cases of severe tracheal stenosis due to advanced nonresectable adenoid cystic carcinoma of the trachea were reported. Case 1 was a 38-year-old male who underwent emergency {sup 60}Co irradiation following endoscopic YAG laser irradiation. This approach was quite effective. Proton irradiation was effective against tumor recurrence. Case 2 was a 28-year-old female in whom emergency treatment for tracheal obstruction due to edema after laser therapy necessitated transient tracheal intubation. The tracheal stenosis due to recurrent tumor after {sup 60}Co irradiation was improved by insertion of an intraluminal permanent stent. (author).

  20. The imaging diagnosis of diffuse brain swelling due to severe brain trauma

    International Nuclear Information System (INIS)

    Shen Jianqiang; Hu Jiawang

    2008-01-01

    Objective: To discuss the clinical and pathological characteristics and the imaging types of the diffuse brain swelling due to severe brain trauma. Methods: The clinical data and CT and MR images on 48 cases with diffuse brain swelling due to severe brain trauma were analyzed. Results: Among these 48 cases of the diffuse brain swelling due to severe brain trauma, 33 cases were complicated with brain contusions (including 12 cases brain diffuse axonal injury, 1 case infarct of the right basal ganglion), 31 cases were complicated with hematoma (epidural, subdural or intracerebral), 27 cases were complicated with skull base fracture, and 10 cases were complicated with subarachnoid hematoma. The CT and MR imaging of the diffuse brain swelling included as followed: (1) Symmetrically diffuse brain swelling in both cerebral hemispheres with cerebral ventricles decreased or disappeared, without median line shift. (2)Diffuse brain swelling in one side cerebral hemisphere with cerebral ventricles decreased or disappeared at same side, and median line shift to other side. (3) Subarachnoid hematoma or little subcortex intracerebral hematoma were complicated. (4) The CT value of the cerebral could be equal, lower or higher comparing with normal. Conclusion: The pathological reason of diffuse brain swelling was the brain vessel expanding resulting from hypothalamus and brainstem injured in severe brain trauma. There were four CT and MR imaging findings in diffuse brain swelling. The diffuse brain swelling without hematoma may be caused by ischemical reperfusion injury. (authors)

  1. Orthodontic-surgical management of a case of severe mandibular deficiency due to condylar ankylosis

    Directory of Open Access Journals (Sweden)

    Sridevi Padmanabhan

    2014-01-01

    Full Text Available Dentofacial deformities involve deviations from the normal facial proportions and dental relationships and can range from mild to being severe enough to be severely handicapping.The term handicapping malocclusions though not a term commonly used, involves a fortunately small section (2-4% of patients who can suffer from esthetic,psychological and functional problems. Craniofacial Orthodontics is the area of orthodontics that treats patients with congenital and acquired deformities of the integument and it′s underlying musculoskeletal system within the craniofacial area and associated structures.This case report of a young woman with severe mandibular deficiency and facial asymmetry due to condylar ankylosis highlights the importance of team work in rehabilitation of such severe craniofacial deformities.

  2. Association between spasticity and the level of motor function with quality of life in community dwelling Iranian young adults with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Nasrin Salehi Dehno

    2012-11-01

    Full Text Available  Abstract Background: Consequences of cerebral palsy in adulthood can affect physical, psychological capabilities and quality of life. The purpose of this study was to investigate the relationship between quality of life with spasticity and level of motor function in Iranian young adults with spastic cerebral palsy who were community dweller. Methods: In an analytical cross sectional study, 77 participants with spastic cerebral palsy (44 women، 33 men with age range of 20 to 40 years; (mean age 26.19±5 yr took part in this study. They were enrolled from three Raad Rehabilitation Goodwill complexes in Tehran and Karaj cities. All subjects were recruited through convenient sampling. Severity of Spasticity for knee flexors was measured with Modified Tardieu Scale. In addition, the level of motor function, and quality of life were assessed respectively through Gross Motor Function Classification System and World Health Organization Quality of life questionnaire (WHOQOL- BREF. To analyze data, Pearson and spearman correlation coefficient was used. Results: No correlation found between quality of life with knee flexor muscles spasticity and level of motor function (p> 0.05. Conclusion: Quality of life as a multi dimensional concept has been impacted by many factors such as physical status, environmental issues and culture. Possibly, severity of spasticity and level of function have a less pronounced effect on quality of life in community dwelling adults with cerebral palsy. 

  3. Hypovolemic shock due to severe gastrointestinal bleeding in a child taking an herbal syrup

    Directory of Open Access Journals (Sweden)

    Paola Angela Moro

    2011-01-01

    Full Text Available We report the case of a 4-years-old boy who was admitted with hypovolemic shock due to a severe gastrointestinal bleeding. The esophagogastroduodenoscopy (EGDS showed hiatus hernia, erosions and ulcerations of the lower esophagus, possibly due to a gastroesophageal reflux, and a small duodenal erosion. The child was previously healthy and he had never shown any symptoms related to this condition. The only product taken by the child in the previous days was a syrup containing several herbs, among which Filipendula ulmaria (L. Maxim. and Salix spp. (known to contain salicylates, marketed as food and prescribed by his paediatrician to treat a mild cold accompanied by fever. Quali-quantitative analysis confirmed the presence of salicylates in the syrup. Naranjo algorithm showed a probable correlation between the onset of symptoms and the consumption of the herbal remedy. The child recovered after receiving intensive care. The product was withdrawn from Italian market.

  4. SPASTIC FORM OF CEREBRAL PALSY, EPILEPSY WITH BENIGN EPILEPTIFORM DISCHARGE OF CHILDHOOD ON ELECTROENCEPHALOGRAM, AND IATROGENIC STEVENS–JOHNSON SYNDROME (CASE DESCRIPTION

    Directory of Open Access Journals (Sweden)

    A. S. Kotov

    2016-01-01

    Full Text Available The article describes the phenomenon of dual pathology – a combination of structural changes in the brain and benign epileptiform discharge of childhood on electroencephalogram. The uniqueness lies in the observation that the child, since birth suffering from spastic form of cerebral palsy and severe epilepsy, demonstrated the development of Stevens–Johnson syndrome due to intolerance of one of the antiepileptic drugs. Therapeutic approaches to overcome a whole range of violations are discussed in the article.

  5. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency

    OpenAIRE

    Szczawinska‐Poplonyk, Aleksandra; Jonczyk‐Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska‐Sniatkowska, Alicja; Figlerowicz, Magdalena

    2012-01-01

    Please cite this paper as: Szczawinska‐Poplonyk et al. (2012) Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency. Influenza and Other Respiratory Viruses DOI: 10.1111/irv.12059. Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high‐risk patients with underlying conditions, particularl...

  6. Water hammer due to rapid bubble growth at a severe accident

    International Nuclear Information System (INIS)

    Aya, Izuo; Adachi, Masaki; Shiozaki, Koki; Inasaka, Fujio

    2000-01-01

    On a severe accident of the light water reactor (LWR), by steam explosion and so forth due to hydrogen formation by water-metal reaction and direct contact of molted core with water, it is presumed that a lot of vapor forms for a short time in water at reactor vessel and under part of containment vessel. This study aims at and carries out, under reference of the conventional study results, experimental elucidation on coherence of water block motion due to rapid bubble growth, proposal on reduction method of water hammering, development of water hammer estimating method in an actual reactor, and proposal for upgrading of reliability on severe accident evaluation. In 1998 fiscal year, an 'Experimental apparatus on water hammering elements on sever accident' simulated rapid bubble growth due to steam explosion by injecting high pressure air into water was produced to carry out its function test. As a result of the carried out function tests, extreme water hammering phenomena were observed, by which validity of establishment on the study objects could be confirmed. (G.K.)

  7. The Efficacy of Botulinum Toxin A Intramuscular Injections in After-Stroke Spasticity

    Directory of Open Access Journals (Sweden)

    Melek Karaçam

    2010-09-01

    Full Text Available OBJECTIVE: Spasticity is a common dysfunction in stroke patients. It hinders the performance of everyday living activities and lowers the quality of life. In this study, it was aimed to investigate the effects of botulinum toxin A therapy on various aspects, such as muscle tone, pain, daily living activities and disability. METHODS: Fifteen patients with stroke presenting with focal spasticity in the botulinum toxin outpatient unit were evaluated. Results before and after treatment were evaluated by applying different scales. Modified Ashworth Scale was applied for the severity of spasticity. The Medical Council Research Scale was used to test muscle power, and the disability scoring scale, Visual Analogue Pain Scale and Barthel index were the other measures tested. RESULTS: It was found that therapy with botulinum toxin A was effective in spasticity. The increased muscle tone and the disability scores decreased prominently after the treatment (p< 0.05. Lower values in pain scores (p< 0.05 also contributed to better functional outcome (p< 0.01. Along with the significantly good outcome according to the scales, the higher scores in quality of life, feeling of well-being, good performance during the physiotherapy sessions, and less medications needed for spasticity were also indications in commencing the therapy of botulinum toxin A in spasticity. CONCLUSION: Spasticity is a complicated condition causing serious disability. Botulinum toxin A is a preferred therapy when there is an increased motor activity. The effects of the agent are reversible and reliable. The duration of the treatment is long-lasting. Since botulinum toxin A is easily applied and the outcome in focal spasticity is favorable, it is recommended as the first-line choice in the treatment of focal spasticity

  8. Maternal and fetal recovery after severe respiratory failure due to influenza: a case report

    Directory of Open Access Journals (Sweden)

    Madsen Kristine

    2013-02-01

    Full Text Available Abstract Background During pregnancy women are at increased risk of severe complications to influenza infection, including death of mother or fetus, especially if chronic comorbid medical conditions such as diabetes mellitus are present. Case presentation A 36 years old Caucasian pregnant woman with type 1 diabetes underwent mechanical ventilation in gestation week 27 for severe respiratory failure due to influenza and pneumonia. For three weeks during and following her most severe illness, fetal growth could not be detected and the umbilical flows and amniotic fluid volumes were affected too. The possibility of preterm delivery and extracorporeal membrane oxygenation (ECMO treatment were considered, however the patient and her fetus recovered gradually on conservative treatment. Under close surveillance the pregnancy continued until term, with delivery of an infant with appropriate weight for gestational age. Conclusion Preterm delivery and decreased birth weight were reported for women with antepartum pneumonia. Mechanical ventilation and ECMO treatment for severe respiratory failure in pregnancy are life threatening conditions and have been associated with preterm delivery. It remains uncertain if delivery improves the respiratory status of a critically ill woman, and the fetal condition is likely to improve, if the maternal condition is stabilized. Severe respiratory insufficiency requiring mechanical ventilation in a diabetic pregnant woman with influenza was successfully treated conservatively. Despite clear signs of impaired fetal condition in the acute phase, watchful waiting resulted in delivery of a normal weight infant at term.

  9. Tricuspid valve repair for severe tricuspid regurgitation due to pacemaker leads.

    Science.gov (United States)

    Uehara, Kyokun; Minakata, Kenji; Watanabe, Kentaro; Sakaguchi, Hisashi; Yamazaki, Kazuhiro; Ikeda, Tadashi; Sakata, Ryuzo

    2016-07-01

    Tricuspid valve regurgitation due to pacemaker leads is a well-known complication. Although some reports have suggested that pacemaker leads should be surgically explanted, strongly adhered leads cannot always be removed. The aim of this study was to describe our tricuspid valve repair techniques with pacemaker leads left in situ. Our retrospective study investigated 6 consecutive patients who required tricuspid valve surgery for severe regurgitation induced by pacemaker leads. From the operative findings, we identified 3 patterns of tricuspid valve and pacemaker lead involvement. In 3 patients, the leads were caught in the chordae, in 2 patients, tricuspid regurgitation was caused by lead impingement on the septal leaflet, and in 3 patients, tricuspid valve leaflets had been perforated by the pacemaker leads. During surgery, all leads were left in situ after being separated from the leaflet or valvular apparatus. In addition, suture annuloplasty was performed for annular dilatation in all cases. In one patient, the lead was reaffixed to the annulus after the posterior leaflet was cut back towards the annulus, and the leaflet was then closed. There was one hospital death due to sepsis. The degree of tricuspid regurgitation was trivial in all surviving patients at discharge. During a mean follow-up of 21 months, one patient died from pneumonia 20 months after tricuspid valve repair. In patients undergoing tricuspid valve surgery due to severe tricuspid regurgitation caused by pacemaker leads, the leads can be left in situ after proper repair with annuloplasty. © The Author(s) 2016.

  10. Severe protein-calorie malnutrition in two brothers due to abuse by starvation

    Directory of Open Access Journals (Sweden)

    Marcela Montenegro Braga Barroso

    Full Text Available Abstract Objective: To describe the case of two siblings with severe protein-calorie malnutrition due to abuse by starvation. Cases description: The two patients were simultaneously referred to the Hospital Municipal, where they were admitted to the Pediatric Gastroenterology clinic of a university hospital for diagnostic investigation of the cause of severe malnutrition and screening tests for Celiac Disease, Cystic Fibrosis and Environmental enteropathy among others. The exams were all normal, and after detailed research on the interactions of this family, we reached the conclusion that the malnutrition was due to abuse by starvation. The children spent approximately two months in the hospital, receiving a high-protein and high-calorie diet, with significant nutritional recovery. Comments: Abuse by starvation, although rare, should always be considered of as one of the causes of child malnutrition and pediatrician should be aware of the child's development, as well as the family interactions, to prevent more severe nutritional and emotional consequences in the future.

  11. Severe protein-calorie malnutrition in two brothers due to abuse by starvation.

    Science.gov (United States)

    Barroso, Marcela Montenegro Braga; Salvador, Luiza Martins; Fagundes Neto, Ulysses

    2016-12-01

    To describe the case of two siblings with severe protein-calorie malnutrition due to abuse by starvation. The two patients were simultaneously referred from the Municipal Hospital, where they were admitted to the Pediatric Gastroenterology clinic of a university hospital for diagnostic investigation of the cause of severe malnutrition and screening tests for Celiac Disease, Cystic Fibrosis and Environmental enteropathy among others. The exams were all normal, and after detailed research on the interactions of this family, we reached the conclusion that the malnutrition was due to abuse by starvation. The children spent approximately two months in the hospital, receiving a high-protein and high-calorie diet, with significant nutritional recovery. Abuse by starvation, although rare, should always be considered of as one of the causes of child malnutrition and pediatrician should be aware of the child's development, as well as the family interactions, to prevent more severe nutritional and emotional consequences in the future. Copyright © 2016. Publicado por Elsevier Editora Ltda.

  12. Sugammadex use in difficult intubation due to ankylosing spondylitis and severe restrictive respiratory disease

    Directory of Open Access Journals (Sweden)

    Yakup Tomak

    2012-09-01

    Full Text Available We describe anesthesia management of a 50-year-old man scheduled for thoracic spinal reconstruction, presenting with severe restrictive respiratory disease and difficult airway due to ankylosing spondilitis. The patient was unable to extend his head, had difficulty in breathing and sleeping in supine position due to thoracal deformities. The patient was intubated using intubating laryngeal mask airway to overcome the difficulties of limited mouth opening and head extension. He was extubated following administration of sugammadex to obtain optimal conditions in terms of respiratory muscle function and to prevent hypersecretion and bronchospasm. J Clin Exp Invest 2012; 3 (3: 398-400Key words: Restrictive lung disease, airway management, laryngeal masks, sugammadex, ankylosing spondylitis

  13. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough

    Directory of Open Access Journals (Sweden)

    Angela Jinsook Oh

    2018-06-01

    Full Text Available Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1–2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500–3000 mg per day. Conclusions and importance: We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition. Keywords: Keyhole aqueduct syndrome, Midbrain cleft, Mesencephalic cleft, Syrinx, Syringobulbia, Down-beating nystagmus, Cerebrospinal fluid

  14. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.

    Science.gov (United States)

    Oh, Angela Jinsook; Lanzman, Bryan Alexander; Liao, Yaping Joyce

    2018-06-01

    Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500-3000 mg per day. We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition.

  15. Anorexia Nervosa Presented with Fever and Pancytopenia Due to Severe Constipation

    Directory of Open Access Journals (Sweden)

    Senay Akbay

    2014-06-01

    Full Text Available The prevalence of eating disorders is on the increase in adolescence and childhood. The peak age of onset occurs between 14 and 19 years. Anorexia nervosa is diagnosed approximately nine times more often in females than in males. Anorexia nervosa is a eating disorder that occurs mainly in female adolescents and young women. Eating disorders are associated with severe and sometimes life-threatening medical and psychiatric comorbidities. Hematological abnormalities are common in anorexia nervosa. But severe bone marrow supression has rarely been reported. To our knowledge, there is not any publication in the literature about bone marrow supression due to constipation.We reported here a 17 years old girl diagnosed as anorexia nervosa who was not wasted yet, presented with constipation and developed fever and pancytopenia.

  16. [Preclinical treatment of severe burn trauma due to an electric arc on an overhead railway cable].

    Science.gov (United States)

    Spelten, O; Wetsch, W A; Hinkelbein, J

    2013-09-01

    Severe burns due to electrical accidents occur rarely in Germany but represent a challenge for emergency physicians and their team. Apart from extensive burns cardiac arrhythmia, neurological damage caused by electric current and osseous injury corresponding to the trauma mechanism are also common. It is important to perform a survey of the pattern of injuries and treat acute life-threatening conditions immediately in the field. Furthermore, specific conditions related to burns must be considered, e.g. fluid resuscitation, thermal management and analgesia. In addition, a correct strategy for further medical care in an appropriate hospital is essential. Exemplified by this case guidelines for the treatment of severe burns and typical pitfalls are presented.

  17. Elevated Cytokines, Thrombin and PAI-1 in Severe HCPS Patients Due to Sin Nombre Virus

    Directory of Open Access Journals (Sweden)

    Virginie Bondu

    2015-02-01

    Full Text Available Sin Nombre Hantavirus (SNV, Bunyaviridae Hantavirus is a Category A pathogen that causes Hantavirus Cardiopulmonary Syndrome (HCPS with case fatality ratios generally ranging from 30% to 50%. HCPS is characterized by vascular leakage due to dysregulation of the endothelial barrier function. The loss of vascular integrity results in non-cardiogenic pulmonary edema, shock, multi-organ failure and death. Using Electric Cell-substrate Impedance Sensing (ECIS measurements, we found that plasma samples drawn from University of New Mexico Hospital patients with serologically-confirmed HCPS, induce loss of cell-cell adhesion in confluent epithelial and endothelial cell monolayers grown in ECIS cultureware. We show that the loss of cell-cell adhesion is sensitive to both thrombin and plasmin inhibitors in mild cases, and to thrombin only inhibition in severe cases, suggesting an increasing prothrombotic state with disease severity. A proteomic profile (2D gel electrophoresis and mass spectrometry of HCPS plasma samples in our cohort revealed robust antifibrinolytic activity among terminal case patients. The prothrombotic activity is highlighted by acute ≥30 to >100 fold increases in active plasminogen activator inhibitor (PAI-1 which, preceded death of the subjects within 48 h. Taken together, this suggests that PAI-1 might be a response to the severe pathology as it is expected to reduce plasmin activity and possibly thrombin activity in the terminal patients.

  18. Changes in the Severity and Injury Sources of Thoracic Aorta Injuries due to Vehicular Crashes.

    Science.gov (United States)

    Ryb, Gabriel; Dischinger, Patricia; Kerns, Timothy; Burch, Cynthia; Rabin, Joseph; Ho, Shiu

    Research using the National Automotive Sampling System-Crashworthiness Data System (NASS-CDS) suggested a decreased adjusted risk of thoracic aorta injuries (TAI) for newer vehicles during near-side crashes and an increased adjusted TAI risk during frontal crashes. This study attempted to explore possible explanations of these findings. Adult front seat occupants in the Crash Injury Research and Engineering Network (CIREN) database through June 2012 were studied. TAI cases were compared with remaining cases in relation to crash and vehicular characteristics. TAI cases of later crash year (CY) (2004-2012) were compared to those in earlier CY (1996-2003) in relation to TAI severity (minor, moderate, severe and non-survivable). TAI cases in newer model year (MY) vehicles (1999-2012) were compared to those in older vehicles (1988-98) in relation to injury source (steering wheel, front, left, seat belt, air bag and other or unknown). Analysis was stratified by direction of impact (frontal and near-side) and the use of restraints. The similar TAI severity of earlier and later CY among frontal crashes suggests that the observed changes in the adjusted odds of injury seen in NASS-CDS are not due to an increase in injury detection. The decrease in TAI severity among newer vehicles in near-side crashes of later CY is consistent with a beneficial effect of crashworthiness improvements for this crash configuration. A shift of injury source in frontal crashes from the steering wheel in older vehicles to "front of vehicle structures", "seat belts" and "unknown and other" in newer vehicles should suggest potential sites for crashworthiness improvements.

  19. Severity of explicit memory impairment due to Alzheimer's disease improves effectiveness of implicit learning.

    Science.gov (United States)

    Klimkowicz-Mrowiec, Aleksandra; Slowik, Agnieszka; Krzywoszanski, Lukasz; Herzog-Krzywoszanska, Radosława; Szczudlik, Andrzej

    2008-04-01

    Consistent evidence from human and experimental animals studies indicates that memory is organized into two relatively independent systems with different functions and brain mechanisms. The explicit memory system, dependent on the hippocampus and adjacent medial temporal lobe structures, refers to conscious knowledge acquisition and intentional recollection of previous experiences. The implicit memory system, dependent on the striatum, refers to learning of complex information without awareness or intention. The functioning of implicit memory can be observed in progressive, gradual improvement across many trials in performance on implicit learning tasks. The influence of explicit memory on implicit memory has not been precisely identified yet. According to data from some studies, explicit memory seems to exhibit no influence on implicit memory,whereas the other studies indicate that explicit memory may inhibit or facilitate implicit memory. The analysis of performance on implicit learning tasks in patients with different severity of explicit memory impairment due to Alzheimer's disease allows one to identify the potential influence of the explicit memory system on the implicit memory system. 51 patients with explicit memory impairment due to Alzheimer's disease (AD) and 36 healthy controls were tested. Explicit memory was examined by means of a battery of neuropsychological tests. Implicit habit learning was examined on probabilistic classification task (weather prediction task). Patients with moderate explicit memory impairment performed the implicit task significantly better than those with mild AD and controls. Results of our study support the hypothesis of competition between the implicit and explicit memory systems in humans.

  20. Severe maternal morbidity due to sepsis: The burden and preventability of disease in New Zealand.

    Science.gov (United States)

    Lepine, Sam; Lawton, Beverley; Geller, Stacie; Abels, Peter; MacDonald, Evelyn J

    2018-02-20

    Sepsis is a life-threatening systemic condition that appears to be increasing in the obstetric population. Clinical detection can be difficult and may result in increased morbidity via delays in the continuum of patient care. To describe the burden of severe maternal morbidity (SMM) caused by sepsis in New Zealand and investigate the potential preventability. A multidisciplinary expert review panel was established to review cases of obstetric sepsis admitted to intensive care or high-dependency units over an 18 month span in New Zealand. Cases were then analysed for the characteristics of infection and their preventability. Fifty cases met the inclusion criteria, most commonly due to uterine, respiratory or kidney infection. Fifty per cent (25) of these cases were deemed potentially preventable, predominantly due to delays in diagnosis and treatment. A high index of suspicion, development of early recognition systems and multi-disciplinary training are recommended to decrease preventable cases of maternal sepsis. © 2018 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  1. Severe gastric variceal haemorrhage due to splenic artery thrombosis and consecutive arterial bypass

    Directory of Open Access Journals (Sweden)

    Wasmuth Hermann E

    2011-06-01

    Full Text Available Abstract Background Upper gastrointestinal haemorrhage is mainly caused by ulcers. Gastric varicosis due to portal hypertension can also be held responsible for upper gastrointestinal bleeding. Portal hypertension causes the development of a collateral circulation from the portal to the caval venous system resulting in development of oesophageal and gastric fundus varices. Those may also be held responsible for upper gastrointestinal haemorrhage. Case presentation In this study, we describe the case of a 69-year-old male with recurrent severe upper gastrointestinal bleeding caused by arterial submucosal collaterals due to idiopathic splenic artery thrombosis. The diagnosis was secured using endoscopic duplex ultrasound and angiography. The patient was successfully treated with a laparoscopic splenectomy and complete dissection of the short gastric arteries, resulting in the collapse of the submucosal arteries in the gastric wall. Follow-up gastroscopy was performed on the 12th postoperative week and showed no signs of bleeding and a significant reduction in the arterial blood flow within the gastric wall. Subsequent follow-up after 6 months also showed no further gastrointestinal bleeding as well as subjective good quality of life for the patient. Conclusion Submucosal arterial collaterals must be excluded by endosonography via endoscopy in case of recurrent upper gastrointestinal bleeding. Laparoscopic splenectomy provides adequate treatment in preventing any recurrent bleeding, if gastric arterial collaterals are caused by splenic artery thrombosis.

  2. Rib fixation for severe chest deformity due to multiple rib fractures.

    Science.gov (United States)

    Igai, Hitoshi; Kamiyoshihara, Mitsuhiro; Nagashima, Toshiteru; Ohtaki, Yoichi

    2012-01-01

    The operative indications for rib fracture repair have been a matter of debate. However, several reports have suggested that flail chest, pain on respiration, and chest deformity/defect are potential conditions for rib fracture repair. We describe our experience of rib fixation in a patient with severe chest deformity due to multiple rib fractures. A 70-year-old woman was admitted with right-sided multiple rib fractures (2nd to 7th) and marked chest wall deformity without flailing caused by an automobile accident. Collapse of the chest wall was observed along the middle anterior axillary line. At 11 days after the injury, surgery was performed to repair the chest deformity, as it was considered to pose a risk of restrictive impairment of pulmonary function or chronic intercostal pain in the future. Operative findings revealed marked displacement of the superior 4 ribs, from the 2nd to the 5th, and collapse of the osseous chest wall towards the thoracic cavity. After exposure of the fracture regions, ribs fixations were performed using rib staplers. The total operation time was 90 minutes, and the collapsed portion of the chest wall along the middle anterior axillary line was reconstructed successfully.

  3. Whole plant cannabis extracts in the treatment of spasticity in multiple sclerosis: a systematic review

    Directory of Open Access Journals (Sweden)

    Rowland Marie

    2009-12-01

    Full Text Available Abstract Background Cannabis therapy has been considered an effective treatment for spasticity, although clinical reports of symptom reduction in multiple sclerosis (MS describe mixed outcomes. Recently introduced therapies of combined Δ9-tetrahydrocannabinol (THC and cannabidiol (CBD extracts have potential for symptom relief with the possibility of reducing intoxication and other side effects. Although several past reviews have suggested that cannabinoid therapy provides a therapeutic benefit for symptoms of MS, none have presented a methodical investigation of newer cannabinoid treatments in MS-related spasticity. The purpose of the present review was to systematically evaluate the effectiveness of combined THC and CBD extracts on MS-related spasticity in order to increase understanding of the treatment's potential effectiveness, safety and limitations. Methods We reviewed MEDLINE/PubMed, Ovid, and CENTRAL electronic databases for relevant studies using randomized controlled trials. Studies were included only if a combination of THC and CBD extracts was used, and if pre- and post-treatment assessments of spasticity were reported. Results Six studies were systematically reviewed for treatment dosage and duration, objective and subjective measures of spasticity, and reports of adverse events. Although there was variation in the outcome measures reported in these studies, a trend of reduced spasticity in treated patients was noted. Adverse events were reported in each study, however combined TCH and CBD extracts were generally considered to be well-tolerated. Conclusion We found evidence that combined THC and CBD extracts may provide therapeutic benefit for MS spasticity symptoms. Although some objective measures of spasticity noted improvement trends, there were no changes found to be significant in post-treatment assessments. However, subjective assessment of symptom relief did often show significant improvement post-treatment. Differences in

  4. [Evaluation of pendulum testing of spasticity].

    Science.gov (United States)

    Le Cavorzin, P; Hernot, X; Bartier, O; Carrault, G; Chagneau, F; Gallien, P; Allain, H; Rochcongar, P

    2002-11-01

    To identify valid measurements of spasticity derived from the pendulum test of the leg in a representative population of spastic patients. Pendulum testing was performed in 15 spastic and 10 matched healthy subjects. The reflex-mediated torque evoked in quadriceps femoris, as well as muscle mechanical parameters (viscosity and elasticity), were calculated using mathematical modelling. Correlation with the two main measures derived from the pendulum test reported in the literature (the Relaxation Index and the area under the curve) was calculated in order to select the most valid. Among mechanical parameters, only viscosity was found to be significantly higher in the spastic group. As expected, the computed integral of the reflex-mediated torque was found to be larger in spastics than in healthy subjects. A significant non-linear (logarithmic) correlation was found between the clinically-assessed muscle spasticity (Ashworth grading) and the computed reflex-mediated torque, emphasising the non-linear behaviour of this scale. Among measurements derived from the pendulum test which are proposed in the literature for routine estimation of spasticity, the Relaxation Index exhibited an unsuitable U-shaped pattern of variation with increasing reflex-mediated torque. On the opposite, the area under the curve revealed a linear regression, which is more convenient for routine estimation of spasticity. The pendulum test of the leg is a simple technique for the assessment of spastic hypertonia. However, the measurement generally used in the literature (the Relaxation Index) exhibits serious limitations, and would benefit to be replaced by more valid measures, such as the area under the goniometric curve, especially for the assessment of therapeutics.

  5. Fathers' experience of starting family life with an infant born prematurely due to mothers' severe illness.

    Science.gov (United States)

    Værland, Inger Emilie; Vevatne, Kari; Brinchmann, Berit Støre

    2017-10-01

    To describe fathers' experiences of starting family life with an infant delivered prematurely out of necessity of saving the mother's and infant's lives due to the mother's severe preeclampsia. A descriptive, qualitative design was used. Six fathers were interviewed twice: from 6 to 24 days and from 4 to 22 weeks after delivery. Data were transcribed verbatim and analyzed using a reflective lifeworld research approach. The essence of the fathers' experiences of establishing a family with a seriously ill mother and a premature infant can be described as a process of becoming a family through reflection on life and death in a context of separation. The essence specifically comprised the following constituents: (1) starting fatherhood facing existential issues, (2) connecting the family, (3) becoming familiar with your infant, and (4) becoming a father in a public area. The fathers were able to develop their relationship to their infants; this emphasizes the importance of the fathers being able to spend their time in the NICU. The privacy of the fathers were more or less challenged, health professionals should be aware of individualize their approach to the fathers. The study reveals that family life started with separation. Health professionals should try to ensure that the family should be together. Mutual guidelines between the wards that treats mother and child should be implemented. When new mother and child-centers are planned a family friendly environment should be prioritized. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. [A case of severe hemolytic disease of the newborn due to anti-Dia antibody].

    Science.gov (United States)

    Lee, Sun Min; Im, Sun Ju; Park, Su Eun; Lee, Eun Yup; Kim, Hyung Hoi

    2007-10-01

    Here we report a severe case of hemolytic anemia of the newborn with kernicterus caused by anti-Di(a) antibody. A full term male infant was transferred due to hyperbilirubinemia on the third day of life. Despite single phototherapy, the baby's total bilirubin had elevated to 30.1 mg/dL. After exchange transfusion, total bilirubin decreased to 11.45 mg/dL. The direct antiglobulin test on the infant's red cells was positive. The maternal and infant's sera showed a negative reaction in routine antibody detection tests, but were positive in Di(a) panel cells. The frequency of the Di(a) antigen among the Korean population is estimated to be 6.4-14.5%. Anti-Di(a) antibody could cause a hemolytic reaction against transfusion or hemolytic disease of the newborn. We suggest the need for reagent red blood cell panels to include Di(a) antigen positive cells in antibody identification test for Korean.

  7. Severe oral infection due to Lactobacillus rhamnosus during induction chemotherapy for acute myeloid leukemia.

    Science.gov (United States)

    Ishihara, Yuko; Kanda, Junya; Tanaka, Kaori; Nakano, Hirofumi; Ugai, Tomotaka; Wada, Hidenori; Yamasaki, Ryoko; Kawamura, Koji; Sakamoto, Kana; Ashizawa, Masahiro; Sato, Miki; Terasako-Saito, Kiriko; Kimura, Shun-Ichi; Kikuchi, Misato; Nakasone, Hideki; Yamazaki, Rie; Kako, Shinichi; Nishida, Junji; Watanabe, Kunitomo; Kanda, Yoshinobu

    2014-12-01

    We report a case of severe oral infection with a high fever due to Lactobacillus rhamnosus during induction chemotherapy for acute myeloid leukemia. The patient did not improve on treatment with meropenem, clindamycin, or vancomycin until neutrophil recovery. Since L. rhamnosus GG is used in dairy products, and the patient ingested dairy products daily before starting chemotherapy, we suspected an association between the ingestion of dairy products and the development of infection. Pulsed-field gel electrophoresis using two different restriction enzymes showed that the strain isolated from the patient was identical to the L. rhamnosus GG strain isolated from dairy products and ATCC #53103. This was confirmed by a PCR assay with species-specific L. rhamnosus GG primers. Since Lactobacillus infection, particularly L. rhamnosus infection, can be fatal in immunocompromised hosts, we should consider Lactobacillus as a causative organism when Gram-positive rods are detected during treatment with broad-spectrum antibiotics and vancomycin. The causal association between the ingestion of dairy products containing Lactobacillus and Lactobacillus infection in immunocompromised hosts warrants further study.

  8. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis

    Directory of Open Access Journals (Sweden)

    Alberto Leonardi

    2018-04-01

    Full Text Available Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at

  9. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis.

    Science.gov (United States)

    Leonardi, Alberto; Penta, Laura; Cofini, Marta; Lanciotti, Lucia; Principi, Nicola; Esposito, Susanna

    2018-04-09

    Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT) is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg) without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage) and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at presentation leading to

  10. Reduction in spasticity in stroke patient with paraffin therapy.

    Science.gov (United States)

    Wang, Jing; Yu, Peng; Zeng, Ming; Gu, Xudong; Liu, Yan; Xiao, Mingyue

    2017-01-01

    The aim of the study was to confirm whether paraffin therapy offer clinical value in the treatment of spasticity due to stroke. Fifty-two patients with spasticity in the upper limb were included. The patients were randomized into the experimental group with paraffin therapy (n = 27) and the control group with placebo therapy (n = 25). The outcome measures besides temperature examination were undertaken at time points of 0 (T0), 2 (T1) and 4 weeks (T2) following therapy treatment. The extent of spasticity was measured using Modified Ashworth Score (MAS) during passive movement at the shoulder, elbow, wrist and finger joints. Visual analogue scale (VAS) was used to evaluate the hemiplegic upper limb pain and functional activity of the upper limb motor function was evaluated by Brunnstrom recovery stage. All adverse events were recorded. MAS decreased significantly in Exp group compared with Con group, at the time points of T1 and T2, both before and immediately after paraffin therapy. Paraffin treatment failed to show remarkable improvement in pain compared with placebo-treated patient at movement at any time point. But VAS in Exp exhibited a tendency to decrease over time in shoulder, elbow, wrist and hand. With regard to the Brunnstrom score, patients in Exp showed significant improvement at the end of trial compared to the beginning. The values of temperature showed significant increment immediately after paraffin therapy at each time point in Exp group. Paraffin therapy may be a kind of noninvasive, promising method to reduce spasticity of stroke patients.

  11. Botulinum toxin therapy for treatment of spasticity in multiple sclerosis: review and recommendations of the IAB-Interdisciplinary Working Group for Movement Disorders task force.

    Science.gov (United States)

    Dressler, Dirk; Bhidayasiri, Roongroj; Bohlega, Saeed; Chahidi, Abderrahmane; Chung, Tae Mo; Ebke, Markus; Jacinto, L Jorge; Kaji, Ryuji; Koçer, Serdar; Kanovsky, Petr; Micheli, Federico; Orlova, Olga; Paus, Sebastian; Pirtosek, Zvezdan; Relja, Maja; Rosales, Raymond L; Sagástegui-Rodríguez, José Alberto; Schoenle, Paul W; Shahidi, Gholam Ali; Timerbaeva, Sofia; Walter, Uwe; Saberi, Fereshte Adib

    2017-01-01

    Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literature search produced 55 publications (3 randomised controlled trials, 3 interventional studies, 11 observational studies, 2 case studies, 35 reviews, 1 guideline) all unanimously favouring the use of BT therapy for MS spasticity. There is no reason to believe that BT should be less effective and safe in MS spasticity than it is in stroke spasticity. Recommendations include an update of the current prevalence of MS spasticity and its clinical features according to classifications used in movement disorders. Immunological data on MS patients already treated should be analysed with respect to frequencies of MS relapses and BT antibody formation. Registration authorities should expand registration of BT therapy for spasticity regardless of its aetiology. MS specialists should consider BT therapy for symptomatic treatment of spasticity.

  12. Epidermolysis bullosa acquisita with moderately severe dysphagia due to esophageal strictures

    Directory of Open Access Journals (Sweden)

    Jenny Tu

    2011-01-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is a chronic, autoimmune condition involving the skin and mucous membranes. Symptomatic mucosal involvement is rare, but can impact on quality of life, due to esophageal strictures and dysphagia. We report a case involving a 60-year-old male presenting with bullous skin lesions on areas of friction on his hands, feet and mouth. Milia were visible on some healed areas. Biopsy showed a subepidermal vesicle. Direct immunofluorescence showed intense linear junctional IgG and C3 at the dermo-epidermal junction. Serological tests also supported the diagnosis of EBA. Screening tests for underlying malignancies were negative. Despite treatment with systemic steroids, the patient developed increasing dysphagia, requiring further investigation with esophagoscopy and a barium swallow. Confirmation of extensive esophageal stricturing prompted adjustment of medications including an increase in systemic steroids and addition of azathioprine. Currently, the patient′s disease remains under control, with improvement in all his symptoms and return of anti-basement membrane antibody levels to normal, whilst he remains on azathioprine 150 mg daily and prednisolone 5 mg daily. This case highlights the fact that the treatment of a given patient with EBA depends on severity of disease and co-morbid symptoms. Newer immunoglobulin and biological therapies have shown promise in treatment resistant disease. Considering that long-term immunosuppressants or biologicals will be required, potential side effects of the drugs should be considered. If further deterioration occurs in this patient, cyclosporin A or intravenous immunoglobulin (IV Ig will be considered. Vigilance for associated co-morbidities, especially malignancies, should always be maintained.

  13. Genetics Home Reference: spastic paraplegia type 7

    Science.gov (United States)

    ... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. ...

  14. Phase changes caused by hyperventilation stress in spastic angina pectoris analyzed by first-pass radionuclide ventriculography

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Jin; Takeda, Tohoru; Ajisaka, Ryuichi; Masuoka, Takeshi; Watanabe, Sigeyuki; Sato, Motohiro; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Toyama, Hinako; Ishikawa, Nobuyoshi

    1999-02-01

    To understand the effect of hyperventilation (HV) stress in patients with spastic angina, left ventricular (LV) contraction was analyzed by quantitative phase analysis. The study was performed on 36 patients with spastic angina pectoris, including vasospastic angina pectoris (VspAP: 16 patients) and variant angina pectoris (VAP: 20 patients). First-pass radionuclide ventriculography (first-pass RNV) was performed at rest and after HV stress, and standard deviation of the LV phase distribution (SD) was analyzed. The SD was lower in patients with VspAP than in VAP(12.8{+-}1.4 degrees vs. 14.6{+-}2.2 degrees, p<0.005) at rest. After HV stress, the SD (HVSD) tended to increase in VspAP patients (62.5%), whereas the SD decreased in VAP patients (70%). Due to HV stress, the percentage change in SD (%SD) in VspAP patients was 8.9{+-}23.7% whereas that in VAP patients was -9.1{+-}17.3% (p<0.01). Moreover, phase histograms were divided into HVSD increase and HVSD decrease groups. The HVSD increase group had a decrease of HVEF, but the HVSD decrease group tended to have more decreased HVEF than the HVSD increase group. These results indicate that spastic angina pectoris patients show various responses to HV stress. The HVSD increase group might have additional myocardial ischemia due to regional coronary spasm. In contrast, in the HVSD decrease group severe LV dysfunction or diffuse wall motion abnormality might have been generated, and this caused a reduction in the SD value. Phase analysis would therefore add new information regarding electrocardiographically silent myocardial ischemia due to coronary spasm, and HV stress might increase sensitivity for the detection of abnormalities in quantitative phase analysis, especially in VspAP patients. (author)

  15. Phase changes caused by hyperventilation stress in spastic angina pectoris analyzed by first-pass radionuclide ventriculography

    International Nuclear Information System (INIS)

    Wu, Jin; Takeda, Tohoru; Ajisaka, Ryuichi; Masuoka, Takeshi; Watanabe, Sigeyuki; Sato, Motohiro; Itai, Yuji; Toyama, Hinako; Ishikawa, Nobuyoshi

    1999-01-01

    To understand the effect of hyperventilation (HV) stress in patients with spastic angina, left ventricular (LV) contraction was analyzed by quantitative phase analysis. The study was performed on 36 patients with spastic angina pectoris, including vasospastic angina pectoris (VspAP: 16 patients) and variant angina pectoris (VAP: 20 patients). First-pass radionuclide ventriculography (first-pass RNV) was performed at rest and after HV stress, and standard deviation of the LV phase distribution (SD) was analyzed. The SD was lower in patients with VspAP than in VAP(12.8±1.4 degrees vs. 14.6±2.2 degrees, p<0.005) at rest. After HV stress, the SD (HVSD) tended to increase in VspAP patients (62.5%), whereas the SD decreased in VAP patients (70%). Due to HV stress, the percentage change in SD (%SD) in VspAP patients was 8.9±23.7% whereas that in VAP patients was -9.1±17.3% (p<0.01). Moreover, phase histograms were divided into HVSD increase and HVSD decrease groups. The HVSD increase group had a decrease of HVEF, but the HVSD decrease group tended to have more decreased HVEF than the HVSD increase group. These results indicate that spastic angina pectoris patients show various responses to HV stress. The HVSD increase group might have additional myocardial ischemia due to regional coronary spasm. In contrast, in the HVSD decrease group severe LV dysfunction or diffuse wall motion abnormality might have been generated, and this caused a reduction in the SD value. Phase analysis would therefore add new information regarding electrocardiographically silent myocardial ischemia due to coronary spasm, and HV stress might increase sensitivity for the detection of abnormalities in quantitative phase analysis, especially in VspAP patients. (author)

  16. Cannabinoids in the management of spasticity associated with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Anna Maria Malfitano

    2008-08-01

    Full Text Available Anna Maria Malfitano, Maria Chiara Proto, Maurizio BifulcoDipartimento di Scienze Farmaceutiche, Università degli Studi di SalernoAbstract: The endocannabinoid system and cannabinoid-based treatments have been involved in a wide number of diseases. In particular, several studies suggest that cannabinoids and endocannabinoids may have a key role in the pathogenesis and therapy of multiple sclerosis (MS. In this study we highlight the main findings reported in literature about the relevance of cannabinoid drugs in the management and treatment of MS. An increasing body of evidence suggests that cannabinoids have beneficial effects on the symptoms of MS, including spasticity and pain. In this report we focus on the effects of cannabinoids in the relief of spasticity describing the main findings in vivo, in the mouse experimental allergic encephalomyelitis model of MS. We report on the current treatments used to control MS symptoms and the most recent clinical studies based on cannabinoid treatments, although long-term studies are required to establish whether cannabinoids may have a role beyond symptom amelioration in MS.Keywords: cannabinoids, multiple sclerosis, spasticity

  17. Ocular disorders in children with spastic subtype of cerebral palsy.

    Science.gov (United States)

    Ozturk, A Taylan; Berk, A Tulin; Yaman, Aylin

    2013-01-01

    To document common ocular abnormalities in children with spastic subtype of cerebral palsy (CP) and to find out whether any correlation exists between their occurance and etiologic factors. Totally 194 patients with the diagnosis of spastic type CP were enrolled in this retrospective study. Detailed ophthalmic examinations were performed. Demographic data and neuroradiological findings were documented. Kruskal-Wallis, Mann Whitney U, Pearson Chi-square tests and Student's t tests were used in the statistical analysis. The mean age was 64.7±44.2 months on the first ophthalmic examination. Prevalences of diplegia (47.4%) and tetraplegia (36.1%) were found to be higher than the frequency of hemiplegia (16.5%) in our study population. Etiologic factor was asphyxia in 60.8% of the patients. Abnormal ocular findings were present in 78.9% of the patients. Statistically significant poor vision was detected in tetraplegia group among all the spastic ubtypes of CP (P=0.000). Anisometropia and significant refractive error were found in 14.4% and 70.1% of the patients, respectively. Thirty-six children (18.6%) had nystagmus and 107 children (55.2%) had strabismus. Lower gestational age and birth weight were statistically higher in patients with esotropia than exotropia (P=0.009 and P=0.024, respectively). Abnormal morphology of the optic disc was present in 152 eyes (39.2%). Severe periventricular leukomalacia (PVL) was found in 48 patients and statistically significant poor vision was detected in the presence of PVL (P=0.000). Spastic diplegic or tetraplegic CP patients with positive neuroradiological symptoms, younger gestational age and lower birth weight ought to have detailed ophthalmic examinations as early as possible to provide best visual rehabilitation.

  18. Ocular disorders in children with spastic subtype of cerebral palsy

    Directory of Open Access Journals (Sweden)

    Aylin Yaman

    2013-04-01

    Full Text Available AIM: To document common ocular abnormalities in children with spastic subtype of cerebral palsy (CP and to find out whether any correlation exists between their occurance and etiologic factors. METHODS: Totally 194 patients with the diagnosis of spastic type CP were enrolled in this retrospective study. Detailed ophthalmic examinations were performed. Demographic data and neuroradiological findings were documented. Kruskal-Wallis, Mann Whitney U, Pearson Chi-square tests and Student’s t tests were used in the statistical analysis. RESULTS: The mean age was 64.7±44.2 months on the first ophthalmic examination. Prevalences of diplegia (47.4% and tetraplegia (36.1% were found to be higher than the frequency of hemiplegia (16.5% in our study population. Etiologic factor was asphyxia in 60.8% of the patients. Abnormal ocular findings were present in 78.9% of the patients. Statistically significant poor vision was detected in tetraplegia group among all the spastic ubtypes of CP (P=0.000. Anisometropia and significant refractive error were found in 14.4% and 70.1% of the patients, respectively. Thirty-six children (18.6% had nystagmus and 107 children (55.2% had strabismus. Lower gestational age and birth weight were statistically higher in patients with esotropia than exotropia (P=0.009 and P=0.024, respectively. Abnormal morphology of the optic disc was present in 152 eyes (39.2%. Severe periventricular leukomalacia (PVL was found in 48 patients and statistically significant poor vision was detected in the presence of PVL (P=0.000. CONCLUSION: Spastic diplegic or tetraplegic CP patients with positive neuroradiological symptoms, younger gestational age and lower birth weight ought to have detailed ophthalmic examinations as early as possible to provide best visual rehabilitation.

  19. Mania associated with complicated hereditary spastic paraparesis

    OpenAIRE

    Raghavendra B Nayak; Govind S Bhogale; Nanasaheb M Patil; Aditya A Pandurangi

    2011-01-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints ...

  20. Cellular Pathways of Hereditary Spastic Paraplegia*

    OpenAIRE

    Blackstone, Craig

    2012-01-01

    Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticul...

  1. Moderate exercise does not increase the severity of mitral regurgitation due to mitral valve prolapse

    DEFF Research Database (Denmark)

    Pecini, Redi; Dalsgaard, Morten; Møller, Daniel Vega

    2010-01-01

    Mitral regurgitation (MR) secondary to ischemic heart disease (IHD) increases during exercise. We tested the hypothesis that the same is also true for MR due to mitral valve prolapse (MVP).......Mitral regurgitation (MR) secondary to ischemic heart disease (IHD) increases during exercise. We tested the hypothesis that the same is also true for MR due to mitral valve prolapse (MVP)....

  2. Physical therapy in patients with disorders of consciousness: Impact on spasticity and muscle contracture.

    Science.gov (United States)

    Thibaut, A; Wannez, S; Deltombe, T; Martens, G; Laureys, S; Chatelle, C

    2018-01-01

    Spasticity is a frequent complication after severe brain injury, which may prevent the rehabilitation process and worsen the patients' quality of life. In this study, we investigated the correlation between spasticity, muscle contracture, and the frequency of physical therapy (PT) in subacute and chronic patients with disorders of consciousness (DOC). 109 patients with subacute and chronic disorders of consciousness (Vegetative state/Unresponsive wakefulness syndrome - VS/UWS; minimally conscious state - MCS and patients who emerged from MCS - EMCS) were included in the study (39 female; mean age: 40±13.5y; 60 with traumatic etiology; 35 VS/UWS, 68 MCS, 6 EMCS; time since insult: 38±42months). The number of PT sessions (i.e., 20 to 30 minutes of conventional stretching of the four limbs) was collected based on patients' medical record and varied between 0 to 6 times per week (low PT = 0-3 and high PT = 4-6 sessions per week). Spasticity was measured with the Modified Ashworth Scale (MAS) on every segment for both upper (UL) and lower limbs (LL). The presence of muscle contracture was assessed in every joint. We tested the relationship between spasticity and muscle contracture with the frequency of PT as well as other potential confounders such as time since injury or anti-spastic medication intake. We identified a negative correlation between the frequency of PT and MAS scores as well as the presence of muscle contracture. We also identified that patients who received less than four sessions per week were more likely to be spastic and suffer from muscle contracture than patients receiving 4 sessions or more. When separating subacute (3 to 12 months post-insult) and chronic (>12months post-insult) patients, these negative correlations were only observed in chronic patients. A logit regression model showed that frequency of PT influenced spasticity, whereas neither time since insult nor medication had a significant impact on the presence of spasticity. On

  3. Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity

    Science.gov (United States)

    2018-02-20

    Spasticity, Muscle; Muscular Diseases; Musculoskeletal Disease; Muscle Hypertonia; Muscle Spasticity; Neuromuscular Manifestations; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations

  4. Acoustic Characteristics of the Question-Statement Contrast in Severe Dysarthria Due to Cerebral Palsy

    Science.gov (United States)

    Patel, Rupal

    2003-01-01

    Studies of prosodic control in severe dysarthria (DYS) have focused on differences between impaired and nonimpaired speech in terms of the range and variation of fundamental frequency (F0), intensity, and duration. Whether individuals with severe DYS can adequately signal prosodic contrasts and "which" acoustic cues they use to do so has received…

  5. Maternal and fetal recovery after severe respiratory failure due to influenza

    DEFF Research Database (Denmark)

    Madsen, Kristine; Strange, Ditte Gry; Hedegaard, Morten

    2013-01-01

    During pregnancy women are at increased risk of severe complications to influenza infection, including death of mother or fetus, especially if chronic comorbid medical conditions such as diabetes mellitus are present.......During pregnancy women are at increased risk of severe complications to influenza infection, including death of mother or fetus, especially if chronic comorbid medical conditions such as diabetes mellitus are present....

  6. [New developments in spastic unilateral cerebral palsy].

    Science.gov (United States)

    Chabrier, S; Roubertie, A; Allard, D; Bonhomme, C; Gautheron, V

    2010-01-01

    Hemiplegic (or spastic unilateral) cerebral palsy accounts for about 30% of all cases of cerebral palsy. With a population prevalence of 0.6 per 1000 live births, it is the most common type of cerebral palsy among term-born children and the second most common type after diplegia among preterm infants. Many types of prenatal and perinatal brain injury can lead to congenital hemiplegia and brain MRI is the most useful tool to classify them with accuracy and to provide early prognostic information. Perinatal arterial ischemic stroke thus appears as the leading cause in term infants, whereas encephalopathy of prematurity is the most common cause in premature babies. Other causes include brain malformations, neonatal sinovenous thrombosis, parenchymal hemorrhage (for example due to coagulopathy or alloimmune thrombocytopenia) and the more recently described familial forms of porencephaly associated with mutations in the COL4A1 gene. In adjunction with pharmacologic treatment (botulinium neurotoxin injection), new evidence-based rehabilitational interventions, such as constraint-induced movement therapy and mirror therapy, are increasingly being used.

  7. Severe prosthetic joint infection in an immunocompetent male patient due to a therapy refractory Pseudallescheria apiosperma.

    NARCIS (Netherlands)

    Lackner, M.; Man, F.H. de; Eygendaal, D.; Wintermans, R.G.; Kluytmans, J.A.; Klaassen, C.H.; Meis, J.F.G.M.

    2011-01-01

    Prosthetic joint infections (PJI) are rarely due to fungal agents and if so they are mainly caused by Candida strains. This case represents a PJI caused by a multi-drug resistant Pseudallescheria apiosperma, with poor in vivo response to itraconazole and voriconazole. This case differs also by the

  8. Acute sensorineural hearing loss and severe otalgia due to scrub typhus

    Directory of Open Access Journals (Sweden)

    Kim Dong-Min

    2009-10-01

    Full Text Available Abstract Background Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. Case presentations We encountered a patient with sensorineural hearing loss complicating scrub typhus, and three patients with scrub typhus who complained of otalgia, which was sudden onset, severe, paroxysmal, intermittent yet persistent pain lasting for several seconds, appeared within 1 week after the onset of fever and rash. The acute sensorineural hearing loss and otalgia were resolved after antibiotic administration. Conclusion When patients in endemic areas present with fever and rash and have sensorineural hearing loss or otalgia without otoscopic abnormalities, clinicians should suspect scrub typhus and consider empirical antibiotic therapy.

  9. Transcatheter valve-in-valve implantation due to severe aortic regurgitation in a degenerated aortic homograft

    DEFF Research Database (Denmark)

    Olsen, Lene Kjaer; Engstrøm, Thomas; Søndergaard, Lars

    2009-01-01

    Transcatheter aortic valve implantation (TAVI) in severe aortic stenosis has proven to be a feasible and effective treatment modality for inoperable patients. Until now, neither aortic regurgitation nor degenerated bioprostheses has been an indication for TAVI. However, this article reports...... a successful valve-in-valve implantation of a CoreValve aortic valve prosthesis through the right subclavian artery in a case of severe aortic regurgitation within a degenerated aortic homograft. The case exemplifies the possibilities of expanding the indications for TAVI, as well as other vascular access...

  10. Severe Bradycardia Possibly due to a Local Anesthetic Oral Mucosal Injection during General Anesthesia

    OpenAIRE

    Satoh, Kenichi; Ohashi, Ayako; Kumagai, Miho; Hoshi, Hideki; Otaka, Kousei; Joh, Shigeharu

    2015-01-01

    Local anesthesia may induce systemic complications leading to parasympathetic activity leading to bradycardia and hypotension. We report a case of a 50-year-old man undergoing dental surgery under general anesthesia who experienced severe bradycardia and hypotension after local anesthesia infiltration. Concerns regarding the utilization of a relatively large lumen injection needle for local anesthesia during general anesthesia are discussed.

  11. [Severe burns of lower limb due to association of hot water and citrullus colocynthis].

    Science.gov (United States)

    Fejjal, N; Gharib, N E; El Mazouz, S; Abbassi, A; Belmahi, A

    2011-06-30

    The case is reported of a patient suffering from severe burns through having used Citrullus colocynthis as a medicinal plant together with hot water. This led to carbonization of the foot and to its amputation. A description of the plant and its toxicity is given.

  12. SEVERE PULMONARY HYPERTENSION DUE TO SLEEP-DISORDERED BREATHING IN AN ACHONDROPLASIC CHILD

    Directory of Open Access Journals (Sweden)

    Vehbi Dogan

    2014-03-01

    Full Text Available Achondroplasia is the most common skeletal dysplasia in children. Achondroplasic patients often have respiratory problems associated with upper respiratory tract obstruction and craniaofacial dysmorphology. Chronic hypoxemia in these patients can result in pulmonary hypertension. In this report an achondroplasic child with severe day-time pulmonary hypertension is presented. [J Contemp Med 2014; 4(1.000: 41-43

  13. Therapeutic embolization of renal artery to control severe hypertension due to renal trauma

    Energy Technology Data Exchange (ETDEWEB)

    Cotroneo, A R; Patane, D; De Cinque, M; Falappa, P; Doglietto, G

    1987-05-01

    In a young patient with a post-traumatic renal hematoma, severe systemic hypertension, secondary to the activation of the renin-angiotensin axis, developed. Because of persistent hypertension, after 3 months of drug therapy, selective percutaneous embolization of the damaged vessels was performed. One year after procedure, the patient is normotensive without drugs.

  14. Therapeutic embolization of renal artery to control severe hypertension due to renal trauma

    International Nuclear Information System (INIS)

    Cotroneo, A.R.; Patane, D.; De Cinque, M.; Falappa, P.; Doglietto, G.

    1987-01-01

    In a young patient with a post-traumatic renal hematoma, severe systemic hypertension, secondary to the activation of the renin-angiotensin axis, developed. Because of persistent hypertension, after 3 months of drug therapy, selective percutaneous embolization of the damaged vessels was performed. One year after procedure, the patient is normotensive without drugs. (orig.)

  15. Severe pandemic 2009 H1N1 influenza disease due to pathogenic immune complexes

    Science.gov (United States)

    Monsalvo, Ana Clara; Batalle, Juan P.; Lopez, M. Florencia; Krause, Jens C.; Klemenc, Jennifer; Zea, Johanna; Maskin, Bernardo; Bugna, Jimena; Rubinstein, Carlos; Aguilar, Leandro; Dalurzo, Liliana; Libster, Romina; Savy, Vilma; Baumeister, Elsa; Aguilar, Liliana; Cabral, Graciela; Font, Julia; Solari, Liliana; Weller, Kevin P.; Johnson, Joyce; Echavarria, Marcela; Edwards, Kathryn M.; Chappell, James D.; Crowe, James E.; Williams, John V.; Melendi, Guillermina A.; Polack, Fernando P.

    2010-01-01

    Pandemic influenza viruses often cause severe disease in middle-aged adults without preexistent co-morbidities. The mechanism of illness associated with severe disease in this age group is not well understood1–10. Here, we demonstrate preexisting serum antibody that cross-reacts with, but does not protect against 2009 H1N1 influenza virus in middle-aged adults. Non-protective antibody is associated with immune complex(IC)-mediated disease after infection. High titers of serum antibody of low avidity for H1-2009 antigen, and low avidity pulmonary ICs against the same protein were detected in severely ill patients. Moreover, C4d deposition - a sensitive marker of complement activation mediated by ICs- was present in lung sections of fatal cases. Archived lung sections from adults with confirmed fatal influenza 1957 H2N2 infection revealed a similar mechanism of illness. These observations provide a novel biological mechanism for the unusual age distribution of severe cases during influenza pandemics. PMID:21131958

  16. [Two cases of severe eye and cranial injuries due to firework explosions].

    Science.gov (United States)

    Saunte, J P; Trojaborg, N S; Nielsen, O A; Thygesen, J

    1999-12-20

    Two patients who sustained serious facial, cranial and eye trauma secondary to recreational fireworks injuries are reported. Initial assessment included axial and coronary computerized tomography, control of haemorrhage, debridement of wound and brain, and in one patient bilateral excenteration of the globe. Both patients suffered from intracranial haemorrhage, but both recovered without severe neurological sequelae.

  17. Body-Sensor-Network-Based Spasticity Detection.

    Science.gov (United States)

    Misgeld, Berno J E; Luken, Markus; Heitzmann, Daniel; Wolf, Sebastian I; Leonhardt, Steffen

    2016-05-01

    Spasticity is a common disorder of the skeletal muscle with a high incidence in industrialised countries. A quantitative measure of spasticity using body-worn sensors is important in order to assess rehabilitative motor training and to adjust the rehabilitative therapy accordingly. We present a new approach to spasticity detection using the Integrated Posture and Activity Network by Medit Aachen body sensor network (BSN). For this, a new electromyography (EMG) sensor node was developed and employed in human locomotion. Following an analysis of the clinical gait data of patients with unilateral cerebral palsy, a novel algorithm was developed based on the idea to detect coactivation of antagonistic muscle groups as observed in the exaggerated stretch reflex with associated joint rigidity. The algorithm applies a cross-correlation function to the EMG signals of two antagonistically working muscles and subsequent weighting using a Blackman window. The result is a coactivation index which is also weighted by the signal equivalent energy to exclude positive detection of inactive muscles. Our experimental study indicates good performance in the detection of coactive muscles associated with spasticity from clinical data as well as measurements from a BSN in qualitative comparison with the Modified Ashworth Scale as classified by clinical experts. Possible applications of the new algorithm include (but are not limited to) use in robotic sensorimotor therapy to reduce the effect of spasticity.

  18. Pulmonary hypertension and right heart failure due to severe hypernatremic dehydration.

    Science.gov (United States)

    Chiwane, Saurabh; Ahmed, Tageldin M; Bauerfeld, Christian P; Chauhan, Monika

    2017-07-01

    Neonates are at risk of developing hypernatremic dehydration and its associated complications, such as stroke, dural sinus thrombosis and renal vein thrombosis. Pulmonary hypertension has not been described as a complication of hypernatremia. We report a case of a seven-day-old neonate with severe hypernatremic dehydration who went on to develop pulmonary hypertension and right heart failure needing extracorporeal membrane oxygenation (ECMO). Normal or high anion gap metabolic acidosis commonly accompanies hypernatremic dehydration. The presence of acidosis and/or hypoxia can delay the normal drop in pulmonary vascular resistance (PVR) after birth, causing pulmonary hypertension and right ventricular failure. A high index of suspicion is paramount to diagnose pulmonary hypertension and aggressive correction of the acidosis and hypoxia is needed. In the presence of severe right ventricular failure, ECMO can be used as a bridge to recovery while underlying metabolic derangements are being corrected.

  19. Severe infective endocarditis in a healthy adult due to Streptococcus agalactiae.

    Science.gov (United States)

    Fujita, Hiroaki; Nakamura, Itaru; Tsukimori, Ayaka; Sato, Akihiro; Ohkusu, Kiyofumi; Matsumoto, Tetsuya

    2015-09-01

    A case of severe endocarditis, with complications of multiple infarction, meningitis, and ruptured mitral chordae tendineae, caused by Streptococcus agalactiae in a healthy man, is reported. Emergency cardiovascular surgery was performed on the day of admission. Infective endocarditis caused by S. agalactiae is very rare, particularly in a healthy adult. In addition, microbiological analysis revealed that S. agalactiae of sequence type (ST) 19, which belongs to serotype III, was present in the patient's vegetation, mitral valve, and blood culture. It was therefore concluded that the endocarditis was caused by ST19, which has been reported as a non-invasive type of S. agalactiae. This was an extremely rare case in which S. agalactiae of ST19 caused very severe endocarditis in an adult patient with no underlying disease. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  20. Severe metabolic alkalosis due to pyloric obstruction: case presentation, evaluation, and management.

    Science.gov (United States)

    McCauley, Meredith; Gunawardane, Manjula; Cowan, Mark J

    2006-12-01

    A 46-year-old man presented to the emergency room with severe metabolic alkalosis, hypokalemia, and respiratory failure requiring intubation and mechanical ventilation. The cause of his acid-base disorder was initially unclear. Although alkalosis is common in the intensive care unit, metabolic alkalosis of this severity is unusual, carries a very high mortality rate, and requires careful attention to the pathophysiology and differential diagnosis to effectively evaluate and treat the patient. A central concept in the diagnosis of metabolic alkalosis is distinguishing chloride responsive and chloride nonresponsive states. Further studies are then guided by the history and physical examination in most cases. By using a systematic approach to the differential diagnosis, we were able to determine that a high-grade gastric outlet obstruction was the cause of the patients' alkalosis and to offer effective therapy for his condition. A literature review and algorithm for the diagnosis and management of metabolic alkalosis are also presented.

  1. Persistent intestinal bleeding due to severe CMV-related thrombocytopenia in a preterm newborn.

    Science.gov (United States)

    Berardi, Alberto; Spaggiari, Eugenio; Cattelani, Chiara; Roversi, Maria Federica; Pecorari, Monica; Lazzarotto, Tiziana; Ferrari, Fabrizio

    2018-05-01

    The optimal threshold for neonatal platelet transfusions in sick newborns is still uncertain. We report a congenital cytomegalovirus (CMV) infection in a premature neonate with severe thrombocytopenia who subsequently presented with necrotizing enterocolitis and intestinal bleeding. The baby recovered after platelet transfusions were discontinued and the therapy was switched from intravenous ganciclovir to oral valganciclovir. We discuss both measures, speculating on the key role of platelet transfusions.

  2. Two unusual cases of severe recalcitrant hypocalcemia due to aminoglycoside-induced hypomagnesemia

    Directory of Open Access Journals (Sweden)

    Tarun Varma

    2013-01-01

    Full Text Available Aminoglycoside (AMG-induced renal toxicity is well-known and may manifest with non-oliguric renal failure or renal tubular dysfunction like Fanconi-like syndrome, Barter syndrome-like syndrome or distal renal tubular acidosis (RTA. These phenomena have been described with Gentamycin and Amikacin though rarely with Kanamycin. We present two cases of pulmonary tuberculosis that were treated with Kanamycin and during the course of treatment, developed severe recalcitrant hypocalcemia along with hypomagnesemia.

  3. Case report: Severe hemolytic disease of the fetus and newborn due to anti-C+G.

    Science.gov (United States)

    Jernman, Riina; Stefanovic, Vedran; Korhonen, Anu; Haimila, Katri; Sareneva, Inna; Sulin, Kati; Kuosmanen, Malla; Sainio, Susanna

    2015-01-01

    Anti-G is commonly present with anti-D and/or anti-C and can confuse serological investigations. in general, anti-G is not considered a likely cause of severe hemolytic disease of the fetus and newborn (HDFN), but it is important to differentiate it from anti-D in women who should be administered anti-D immunoglobulin prophylaxis. We report one woman with three pregnancies severely affected by anti-C+G requiring intrauterine treatment and a review of the literature. In our case, the identification of the correct antibody was delayed because the differentiation of anti-C+G and anti-D+C was not considered important during pregnancy since the father was D-. In addition, anti-C+G and anti-G titer levels were not found to be reliable as is generally considered in Rh immunization. Severe HDFN occurred at a maternal anti-C+G antibody titer of S and anti-G titer of 1 in comparison with the critical titer level of 16 or more in our laboratory. close collaboration between the immunohematology laboratory and the obstetric unit is essential. In previously affected families, early assessment for fetal anemia is required even when titers are low.

  4. Severe jaundice due to intrahepatic cholestasis after initiating anticoagulation with rivaroxaban.

    Science.gov (United States)

    Aslan, Abdullah N; Sari, Cenk; Baştuğ, Serdal; Sari, Sevil Ö; Akçay, Murat; Durmaz, Tahir; Bozkurt, Engin

    2016-03-01

    Rivaroxaban, a highly selective direct factor Xa inhibitor, is a new oral anticoagulant approved by the US Food and Drug Administration in November 2011 for stroke prophylaxis in patients with nonvalvular atrial fibrillation. Because of its efficacy and once-a-day dosing, it is commonly preferred in patients with nonvalvular atrial fibrillation and intolerance to warfarin in clinical practice. However, it can result in some adverse effects such as bleeding, rashes and liver injury. Here, we described a very rare adverse reaction of rivaroxaban, jaundice due to intrahepatic cholestasis, appeared in a 71-year-old male patient after taking rivaroxaban.

  5. Severe Hemoperitoneum Following Rupture of Uterine Diverticulum due to Pregnancy: a Case Report

    Directory of Open Access Journals (Sweden)

    Yaghmaei Minoo

    2009-06-01

    Full Text Available Uterovaginal malformations, occur in 0.16% of women and contribute to the problems of infertility, recurrent pregnancy loss, dysmenorrhea, dyspareunia, amenorrhea and a poor outcome in pregnancy. True diverticulum is an exceedingly rare anomaly and is like a tubular formation connected to uterine cavity that ends in a cul-de sac and It is not classified as any of mullerian duct anomalies. In this article a case of uterine diverticulum rupture due to pregnancy in a 19 years old woman with nausea, vomiting and abdominal pain is reported. Although rare, in complicated pregnancy we should think to genital tract anomalies.

  6. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  7. Double filtration plasmapheresis in the treatment of pancreatitis due to severe hypertriglyceridemia.

    Science.gov (United States)

    Galán Carrillo, Isabel; Demelo-Rodriguez, Pablo; Rodríguez Ferrero, María Luisa; Anaya, Fernando

    2015-01-01

    Severe hypertriglyceridemia (HTG) leads to major complications such as acute pancreatitis. Lipoprotein apheresis has been proposed as a therapeutic tool for decreasing triglyceride levels, although experience is limited. To describe our experience with double filtration plasmapheresis (DFPP) in patients with severe HTG and pancreatitis in the plasmapheresis unit of a tertiary hospital in Spain. We recruited 4 patients with severe HTG (triglycerides [TGs] >1000 mg/dL) and acute pancreatitis. All the patients underwent DFPP as part of their treatment. Epidemiologic and laboratory data were collected before and after each plasmapheresis session. The average TG level before plasmapheresis was 3136 mg/dL (35.44 mmol/L; range, 1306-6693 mg/dL, 14.76-75.63 mmol/L), and the average Acute Physiology And Chronic Health Evaluation (APACHE) II level before the first session was 6 (range, 3-8). All patients made a full recovery, with a significant improvement in TG levels after plasmapheresis. The mean number of sessions was 2.1 (range, 1-3), and mean TG level after plasmapheresis was 428 mg/dL (4.84 mmol/L; range, 169-515 mg/dL; 1.91-5.82 mmol/L). After the first session, the mean decrease in TG levels was 69.16% (2169 mg/dL, range, 945-5925 mg/dL; 24.51 mmol/L, range, 10.78-66.95 mmol/L), and after the last session, TG levels fell by 89.09% (2794 mg/dL, range, 945-6198 mg/dL; 31.57 mmol/L, range, 10.68-70.04 mmol/L). None of the patients developed complications related to plasmapheresis. According to available evidence and our own experience, DFPP can be an effective and rapid treatment option in patients with severe HTG and complications. However, further research, including randomized controlled studies, is necessary. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  8. An Efficient Measure for Nonlinear Distortion Severity due to HPA in Downlink DS-CDMA Signals

    Directory of Open Access Journals (Sweden)

    Helaly TarekK

    2010-01-01

    Full Text Available This paper deals with the nonlinear distortion (NLD effects of high power amplifiers (HPAs on direct sequence-code division multiple access systems. Such a distortion drastically degrades the system performance in terms of bit error rate (BER degradation and spectral regrowth. Much effort has been conducted to minimize NLD. A key requirement to do so is to define a certain measure for the HPA nonlinearity, which when reduced often allows NLD to also be reduced. Several measures were proposed such as peak-to-average power ratio, instantaneous power variance, and cubic metric. In this paper, we show that such measures are not closely related to NLD and their reduction does not always lead to optimum performance. Hence, we introduce an efficient measure, namely, nonlinearity severity (NLS, to characterize NLD effects, as an alternative to the existing measures. The NLS is characterized by having direct link to the system performance as it is formulated based on the signal characteristics contributing to BER performance and spectral regrowth. Additionally, a major advantage of the NLS measure is that it is linked to the IBO level allowing the possibility of improving performance at all IBO levels of interest.

  9. Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency

    Directory of Open Access Journals (Sweden)

    Claudia A Montiel-Equihua

    2009-12-01

    Full Text Available Claudia A Montiel-Equihua, Adrian J Thrasher, H Bobby GasparCentre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, UKAbstract: The history of stem cell gene therapy is strongly linked to the development of gene therapy for severe combined immunodeficiencies (SCID and especially adenosine deaminase (ADA-deficient SCID. Here we discuss the developments achieved in over two decades of clinical and laboratory research that led to the establishment of a protocol for the autologous transplant of retroviral vector-mediated gene-modified hematopoietic stem cells, which has proved to be both successful and, to date, safe. Patients in trials in three different countries have shown long-term immunological and metabolic correction. Nevertheless, improvements to the safety profile of viral vectors are underway and will undoubtedly reinforce the position of stem cell gene therapy as a treatment option for ADA-SCID.Keywords: adenosine deaminase, severe combined immunodeficiency, gene therapy, hematopoietic stem cell, retrovirus, clinical trial

  10. Life Threatening Severe QTc Prolongation in Patient with Systemic Lupus Erythematosus due to Hydroxychloroquine

    Directory of Open Access Journals (Sweden)

    John P. O’Laughlin

    2016-01-01

    Full Text Available We present a case of a syncopal episode resulting from significant QT interval prolongation in a patient on hydroxychloroquine for the treatment of systemic lupus erythematosus and end stage renal disease. The patient had been treated with hydroxychloroquine for two years prior to presentation. After thorough workup for secondary causes of QT interval prolongation hydroxychloroquine was discontinued and the patient’s QT interval shortened. The patient was treated with mexiletine to prevent sudden ventricular arrhythmias, which was unique compared to other documented cases in which lidocaine was used. The patient was noted to have mild prolongation of the QT interval on electrocardiogram prior to initiation of hydroxychloroquine therapy which was exacerbated by its use and may have been caused due to toxicity from underlying renal failure.

  11. SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

    Science.gov (United States)

    Dardour, Leila; Roelens, Filip; Race, Valerie; Souche, Erika; Holvoet, Maureen; Devriendt, Koen

    2017-07-01

    Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys. © 2017 Dardour et al.; Published by Cold Spring Harbor Laboratory Press.

  12. Severe dermatophytosis due to Trichophyton mentagrophytes var. interdigitale in flocks of green iguanas (Iguana iguana).

    Science.gov (United States)

    Khosravi, A R; Shokri, H; Rostami, A; Tamai, I A; Erfanmanesh, A; Memarian, I

    2012-05-01

    To describe the clinical, mycological, histopathological and molecular findings in green iguanas (Iguana iguana) affected with severe dermatophytosis in selected flocks near Tehran, Iran. Samples were collected from the scales of skin lesions and tested with standard mycological methods and dermatophyte-specific PCR amplification analysis using the primer pair for the chitin synthase 1(CHS1) gene. All iguanas were definitively diagnosed with dermatophytosis using both traditional and molecular diagnostic methods. PCR fingerprinting profiles using simple repetitive (GACA)4 primers showed that all diagnosed iguanas had the same pattern profile. Intraspecific variability was not observed for these isolates. Oligonucleotide sequencing of CHS1 gene PCR products confirmed Trichophyton mentagrophytes var. interdigitale as the infectious agent. These results suggest that (GACA)4-based PCR has utility both as a simple and rapid method for identification of dermatophyte species and for differentiation of T. mentagrophytes variants. © 2012 British Small Animal Veterinary Association.

  13. Non-Operative Management of Isolated Pneumoperitoneum Due to Severe Blunt Abdominal Trauma

    Directory of Open Access Journals (Sweden)

    Murat Kilic

    2016-02-01

    Full Text Available Nonoperative management of blunt abdominal trauma is the treatment of choice for hemodynamically stable patients. The results of nonoperative management are more successful in isolated solid organ injuries such as the liver and spleen than hollow viscus injury. In this approach, both the clinical course of the patient and the computed tomography findings play an important role. Isolated pneumoperitoneum in blunt abdominal trauma may be a surgical challenge for clinicians because it is usually a significant radiological sign for hallow viscus perforations. Here, we report a case of isolated pneumoperitoneum detected on computed tomography and managed non-surgically, in a young man suffered from a severe blunt abdominal trauma. Our aim is to attract the attention of surgeons to the management problems of the presence of pneumoperitoneum in the absence of other radiological findings in blunt abdominal trauma.

  14. Severe pediatric ocular injury due to explosion of a firecracker inside a soda bottle

    Directory of Open Access Journals (Sweden)

    Tarek A Shazly

    2010-10-01

    Full Text Available Tarek A ShazlyDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USAAbstract: This case report describes a penetrating ocular injury, followed by endophthalmitis, in a four-year-old girl, resulting from explosion of a small K0201 match-cracker inside a soda bottle. The patient presented with two corneal lacerations, ruptured crystalline lens, multiple intraocular foreign bodies, and hyphema of the right eye, for which immediate surgical exploration and repair was performed. The patient developed aggressive endophthalmitis that led to atrophy of the eye within a few weeks. Severe ocular injuries can result from small, relatively “safe” firecrackers. Therefore, this type of firework should not be used, especially by minors.Keywords: pediatric trauma, endophthalmitis, firecracker

  15. Etiologic profile of spastic quadriplegia in children.

    Science.gov (United States)

    Venkateswaran, Sunita; Shevell, Michael I

    2007-09-01

    The etiologic profile and possible predictors of etiology in children with spastic quadriplegia were assessed in a consecutive cohort of children with this motor impairment. Medical records from a single pediatric neurology practice over a 14-year interval were retrospectively and systematically reviewed. Variables comprised possible demographic, prenatal, perinatal, and postnatal risk factors. Of the 99 patients included in the study, 39 were premature (quadriplegia was 83%, with differing underlying etiologies depending on gestational age. These results should help guide physicians in investigating possible underlying etiologies in patients with spastic quadriplegia.

  16. [Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].

    Science.gov (United States)

    Ros, P; Colino-Alcol, E; Grasso, V; Barbetti, F; Argente, J

    2015-01-01

    Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome. A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor. The molecular basis of the syndrome is reviewed, focusing on the structure-function relationships of the insulin receptor, knowing that the criteria for survival are linked to residual insulin receptor function. It is also pointed out that, although type A insulin resistance appears to represent a somewhat less severe condition, these patients have a high morbidity and their treatment is still unsatisfactory. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  17. Severe gynecomastia due to anti androgens intake: A case report and literature review

    Directory of Open Access Journals (Sweden)

    Chentli Farida

    2013-01-01

    Full Text Available Gynecomastia is the most bothersome side effect in men taking antiandrogens. It is exceptionally severe and distressing physically and mentally as in the reported case. A man, aged 63, with a history of a well-treated macroprolactinoma, was referred in 2004 for gynecomastia that appeared after treatment by microsurgery, radiotherapy and flutamide for a lesion suspected to be prostate cancer. Clinical examination was normal except for huge enlargement of the breasts. Mammography and breasts MRI did not show any tumor. There was not any metastasis of the supposed prostate cancer and prostatic acid phosphates were within normal ranges. Hormonal exploration showed subclinical hypogonadism [testosterone: 7.4 ng/ml (n: 3-9, FSH: 14.9 mu/ml (n: 0.7-11 and LH: 9.7 mu/ml (n: 0.8-7.6]. Testes ultrasounds were normal. Radiological and hormonal adrenal explorations were normal [Cortisol: 76 ng/ml (n: 50-250, DHEA-S: 59 μg/ml (n: 50-560, E2:40.2 pg/ml (n < 50]. Body scan was normal too. The discussed etiologies were post radiation subclinical hypogonadism, and treatment with anti androgens. After flutamide withdraw, there was not any sign of prostate cancer recurrence, and gynecomastia decreased significantly, but did not disappear probably because of fibrosis.

  18. Interventional treatment of severe portal hypertension due to hepatolenticular degeneration: therapeutic evaluation of 8 cases

    International Nuclear Information System (INIS)

    Zhao Hongwei; Liu Fuquan; Yue Zhendong; Wang Lei

    2011-01-01

    Objective: To evaluate the therapeutic efficacy of sclerotic embolization of esophagogastric varices (SEEV) and partial splenic embolization (PSE) in treating esophagogastric varices and portal hypertension, respectively, in patients with hepatolenticular degeneration. Methods: Eight patients with severe portal hypertension complicated with upper gastrointestinal bleeding and hypersplenism were involved in this study. White blood cell (WBC) counts, platelet counts, and portal vein pressure were determined before and after operation, the results were compared with each other. Results: No recurrence or complication occurred after operation in all patients. After the treatment (SEEV and PSE) the hepatic function showed no obvious changes. The WBC counts increased obviously in the first week after operation, and returned to normal range in 2 weeks. The platelet counts gradually returned to normal level from the second week. The portal vein pressure after operation went up a little, from (45.13±8.69) cm H 2 O to (48.63±10.48) cm H 2 O in SEEV group and to (47.88±11.43) cm H 2 O in PSE group, but the difference was of no statistic significance (P>0.05). Conclusion: Interventional therapy can reduce the portal hypertension caused by hepatolenticular degeneration. The technique is safe and effective, and is very helpful for returning to anti-copper treatment. (authors)

  19. [Lower lymphocyte response in severe cases of acute bronchiolitis due to respiratory syncytial virus].

    Science.gov (United States)

    Ramos-Fernández, José Miguel; Moreno-Pérez, David; Antúnez-Fernández, Cristina; Milano-Manso, Guillermo; Cordón-Martínez, Ana María; Urda-Cardona, Antonio

    2017-08-14

    Acute bronchiolitis (AB) of the infant has a serious outcome in 6-16% of the hospital admitted cases. Its pathogenesis and evolution is related to the response of the T lymphocytes. The objective of the present study is to determine if the lower systemic lymphocytic response is related to a worse outcome of AB in hospitalised infants. Retrospective observational-analytical study of cases-controls nested in a cohort of patients admitted due to RSV-AB between the period from October 2010 to March 2015. Those with a full blood count in the first 48hours of respiratory distress were included. Infants with underlying disease, bacterial superinfection, and premature infants <32 weeks of gestation were excluded. The main dichotomous variable was PICU admission. Other variables were: gender, age, post-menstrual age, gestational and post-natal tobacco exposure, admission month, type of lactation, and days of onset of respiratory distress. Lymphocyte counts were categorised by quartiles. Bivariate analysis was performed with the main variable and then by logistic regression to analyse confounding factors. The study included 252 infants, of whom 6.6% (17) required PICU admission. The difference in mean±SD of lymphocytes for patients admitted to and not admitted to PICU was 4,044±1755 and 5,035±1786, respectively (Student-t test, P<.05). An association was found between PICU admission and lymphocyte count <3700/ml (Chi-squared, P=.019; OR: 3.2) and it was found to be maintained in the logistic regression, regardless of age and all other studied factors (Wald 4.191 P=.041, OR: 3.8). A relationship was found between lymphocytosis <3700/ml in the first days of respiratory distress and a worse outcome in previously healthy infants <12 months and gestational age greater than 32 weeks with RSV-AB. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  20. Development of a clinical spasticity scale for evaluation of dogs with chronic thoracolumbar spinal cord injury.

    Science.gov (United States)

    Lewis, Melissa J; Olby, Natasha J

    2017-07-01

    OBJECTIVE To develop a spasticity scale for dogs with chronic deficits following severe spinal cord injury (SCI) for use in clinical assessment and outcome measurement in clinical trials. ANIMALS 20 chronically paralyzed dogs with a persistent lack of hind limb pain perception caused by an acute SCI at least 3 months previously. PROCEDURES Spasticity was assessed in both hind limbs via tests of muscle tone, clonus, and flexor and extensor spasms adapted from human scales. Measurement of patellar clonus duration and flexor spasm duration and degree was feasible. These components were used to create a canine spasticity scale (CSS; overall score range, 0 to 18). Temporal variation for individual dogs and interrater reliability were evaluated. Gait was quantified with published gait scales, and CSS scores were compared with gait scores and clinical variables. Owners were questioned regarding spasticity observed at home. RESULTS 20 dogs were enrolled: 18 with no apparent hind limb pain perception and 2 with blunted responses; 5 were ambulatory. Testing was well tolerated, and scores were repeatable between raters. Median overall CSS score was 7 (range, 3 to 11), and flexor spasms were the most prominent finding. Overall CSS score was not associated with age, SCI duration, lesion location, or owner-reported spasticity. Overall CSS score and flexor spasm duration were associated with gait scores. CONCLUSIONS AND CLINICAL RELEVANCE The CSS could be used to quantify hind limb spasticity in dogs with chronic thoracolumbar SCI and might be a useful outcome measure. Flexor spasms may represent an integral part of stepping in dogs with severe SCI.

  1. Severe HDN due to anti-Ce that required exchange tranfusion.

    Science.gov (United States)

    Wagner, T; Resch, B; Legler, T J; Mossier, C; Helmberg, W; Köhler, M; Lanzer, G

    2000-05-01

    Rh system antibodies are commonly encountered in blood bank practice as well as during pregnancy. Nevertheless, no examples of anti-Ce (RH7) have been reported as a cause of HDN that requires exchange transfusion. A 38-year-old woman in her fourth pregnancy was typed as blood group O D+, C-, c+, E+, e-. Anti-C and anti-e were detected in her serum during a routine prenatal work-up. Further evaluation, including flow cytometric analysis, revealed the presence of a strong anti-Ce and a weak anti-e. Her partner was typed as group A D+, C+, c-, E-, e+. A seemingly healthy male infant was delivered at 40 weeks of gestation. The infant's RBCs were typed as group O D-, C+, c+, E+, e+ with a positive DAT (titer 128). Twenty-five hours after birth, the baby had to be transferred to the neonatal intensive care unit because of rapidly rising total serum bilirubin. Despite intensive treatment, including double phototherapy, albumin infusion, and the administration of furosemide and IVIG, the total serum bilirubin level increased during the following day and exchange transfusion with 2 units of type O D-, C-, c+, E+, e- had to be performed; this resulted in a prompt decrease in total serum bilirubin without relapse. Anti-Ce caused severe HDN requiring exchange transfusion. This highlights the need for a close follow-up throughout pregnancy if unexpected RBC antibodies are present, to permit the provision of compatible blood in case of a rare antibody.

  2. Transcranial and spinal cord magnetic stimulation in treatment of spasticity: a literature review and meta-analysis.

    Science.gov (United States)

    Korzhova, Julia; Sinitsyn, Dmitry; Chervyakov, Alexander; Poydasheva, Alexandra; Zakharova, Maria; Suponeva, Natalia; Chernikova, Lyudmila; Piradov, Michael

    2018-02-01

    Spasticity is associated with various diseases of the nervous system. Current treatments such as drug therapy, botulinum toxin injections, kinesitherapy, and physiotherapy are not sufficiently effective in a large number of patients. Transcranial magnetic stimulation (TMS) can be considered as an alternative method of treatment. The purpose of this article was to conduct a systematic review and meta-analysis of all available publications assessing the efficacy of repetitive TMS in treatment of spasticity. Search for articles was conducted in databases PubMed, Willey, and Google. Keywords included "TMS", "spasticity", "TMS and spasticity", "non-invasive brain stimulation", and "non-invasive spinal cord stimulation". The difference in scores according to the Modified Ashworth Scale (MAS) for one joint before and after treatment was taken as the effect size. We found 26 articles that examined the TMS efficacy in treatment of spasticity. Meta-analysis included 6 trials comprising 149 patients who underwent real stimulation or simulation. No statistically significant difference in the effect of real and simulated stimulation was found in stroke patients. In patients with spinal cord injury and spasticity, the mean effect size value and the 95% confidence interval were -0.80 and (-1.12, -0.49), respectively, in a group of real stimulation; in the case of simulated stimulation, these parameters were 0.15 and (-0.30, -0.00), respectively. Statistically significant differences between groups of real stimulation and simulation were demonstrated for using high-frequency repetitive TMS or iTBS mode for the M1 area of the spastic leg (P=0.0002). According to the meta-analysis, the statistically significant effect of TMS in the form of reduced spasticity was demonstrated only for the developed due to lesions at the brain stem and spinal cord level. To clarify the amount of the antispasmodic effect of repetitive TMS at other lesion levels, in particular in patients with

  3. Effects of repetitive peripheral magnetic stimulation on upper-limb spasticity and impairment in patients with spastic hemiparesis: a randomized, double-blind, sham-controlled study.

    Science.gov (United States)

    Krewer, Carmen; Hartl, Sandra; Müller, Friedemann; Koenig, Eberhard

    2014-06-01

    To investigate short-term and long-term effects of repetitive peripheral magnetic stimulation (rpMS) on spasticity and motor function. Monocentric, randomized, double-blind, sham-controlled trial. Neurologic rehabilitation hospital. Patients (N=66) with severe hemiparesis and mild to moderate spasticity resulting from a stroke or a traumatic brain injury. The average time ± SD since injury for the intervention groups was 26 ± 71 weeks or 37 ± 82 weeks. rpMS for 20 minutes or sham stimulation with subsequent occupational therapy for 20 minutes, 2 times a day, over a 2-week period. Modified Tardieu Scale and Fugl-Meyer Assessment (arm score), assessed before therapy, at the end of the 2-week treatment period, and 2 weeks after study treatment. Additionally, the Tardieu Scale was assessed after the first and before the third therapy session to determine any short-term effects. Spasticity (Tardieu >0) was present in 83% of wrist flexors, 62% of elbow flexors, 44% of elbow extensors, and 10% of wrist extensors. Compared with the sham stimulation group, the rpMS group showed short-term effects on spasticity for wrist flexors (P=.048), and long-term effects for elbow extensors (P<.045). Arm motor function (rpMS group: median 5 [4-27]; sham group: median 4 [4-9]) did not significantly change over the study period in either group, whereas rpMS had a positive effect on sensory function. Therapy with rpMS increases sensory function in patients with severe limb paresis. The magnetic stimulation, however, has limited effect on spasticity and no effect on motor function. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  4. Spasticity: its physiology and management. Part IV. Current and projected treatment procedures for spasticity.

    Science.gov (United States)

    Bishop, B

    1977-04-01

    Today's prescriptions for treating spasticity may include pharmacological, surgical, or physical procedures. All derive their rationale from the classical concepts of decerebrate rigidity and of brain organization as discussed in Part I. This paper describes the advantages and disadvantages of these current treatment procedures and proposes that recent discoveries about the "recovery" capabilities of the central nervous system may influence the means for managing spasticity in the future.

  5. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

    Science.gov (United States)

    Gillespie, Meredith K; Humphreys, Peter; McMillan, Hugh J; Boycott, Kym M

    2018-04-01

    Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. Additional clinical features in SPG4 have been reported on occasion, but no genotype-phenotype correlation has been established. Through targeted clinical testing, we identified 2 unrelated female patients with the same de novo p.Arg499His mutation in SPAST. Both patients presented with early-onset spasticity resulting in delayed motor milestones, which led to a diagnosis of cerebral palsy in one child and tethered cord in the other. Review of the literature identified several patients with mutations at amino acid 499 and early-onset symptoms associated with a risk of cognitive impairment. Early and accurate diagnosis of children with early-onset spasticity is important for informed prognosis and genetic counselling.

  6. Treatment diary for botulinum toxin spasticity treatment

    DEFF Research Database (Denmark)

    Biering-Sørensen, Bo; Iversen, Helle K; Frederiksen, Inge M S

    2017-01-01

    The aim of this study is to develop a treatment diary for patients receiving spasticity treatment including botulinum toxin injection and physiotherapy and/or occupational therapy. The diary focuses on problems triggered by skeletal muscle overactivity; agreed goals for treatment and the patient...

  7. The use of hydrotherapy for the management of spasticity.

    Science.gov (United States)

    Kesiktas, N; Paker, N; Erdogan, N; Gülsen, G; Biçki, D; Yilmaz, H

    2004-12-01

    Spasticity is a major problem for the rehabilitation team. Physiotherapy is a vital component of therapy. Oral medication and other modalities such as heat, cold, ultrasound, electrical stimulation, and surgery (neuro-surgical or orthopedic) can also be used. The aim of this study was to compare the effects of hydrotherapy on spasticity and Functional Independence Measure (FIM) scores of patients with spinal cord injury (SCI). This is a control case matched study. Twenty SCI patients were divided into 2 groups and matched for age, gender, injury time, Ashworth scores, oral baclofen intake, American Spinal Injury Association, and FIM scores. The control group received passive range of motion exercise twice a day and oral baclofen for 10 weeks. The study group also received passive range of motion and oral baclofen, as well as 20 min of water exercises (at 71 degrees F, full immersion) 3 times per week. The authors evaluated spasm severity, FIM scores, oral baclofen intake, and Ashworth scales, between groups at the beginning and at the end of the treatment period. Both groups demonstrated a significant increase in FIM scores. However, the hydrotherapy group demonstrated a larger increase (P hydrotherapy group (P hydrotherapy produced a significant decrease in spasm severity (P hydrotherapy to the rehabilitation program can be helpful in decreasing the amount of medication required. Future studies must evaluate benefits of hydrotherapy for rehabilitation.

  8. Important hypercalcemia due to subcutaneous fat necrosis treated with pamidronate in an infant with severe hypoxic-ischemic encephalopathy

    Directory of Open Access Journals (Sweden)

    Pasqua Anna Quitadamo

    2016-08-01

    Full Text Available Subcutaneous fat necrosis (SCFN of the newborn is an uncommon form of panniculitis that occurs after fetal distress and involves fatty areas during the first weeks of life. This rare disorder is generally self-limiting and undergoes complete regression. However, it can be complicated with a potentially life-threatening hypercalcemia. We report a case of severe hypercalcemia due to SCFN occurring after serious perinatal hypoxic injury, which resolved by intravenous administration of pamidronate. This treatment was rapidly effective and well tolerated. We suggest that pamidronate could be the first-line therapy for severe hypercalcemia in SCFN.

  9. Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature

    OpenAIRE

    Torchinsky, Michael Y.; Wineman, Robert; Moll, George W.

    2011-01-01

    Isolated ACTH deficiency causes life-threatening severe hypoglycemia. A 7-year-old girl with hypoglycemia due to this rare disorder is described. Our patient had undetectable plasma ACTH repeatedly and cortisol 0 mcg/dl before and after ACTH 1-24 stimulation. There was no evidence of other pituitary hormone deficiency. Glucocorticoid replacement therapy resulted in resolution of all symptoms and normalization of blood glucose. Previously published data on isolated ACTH deficiency in children ...

  10. Important hypercalcemia due to subcutaneous fat necrosis treated with pamidronate in an infant with severe hypoxic-ischemic encephalopathy

    OpenAIRE

    Pasqua Anna Quitadamo; Antonio Villani; Piero Paolo Cristalli; Marina Marinelli; Anita Riganti; Michele Bisceglia; Alberto Gatta

    2016-01-01

    Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon form of panniculitis that occurs after fetal distress and involves fatty areas during the first weeks of life. This rare disorder is generally self-limiting and undergoes complete regression. However, it can be complicated with a potentially life-threatening hypercalcemia. We report a case of severe hypercalcemia due to SCFN occurring after serious perinatal hypoxic injury, which resolved by intravenous administration of pamidrona...

  11. Severe primary postpartum hemorrhage due to genital tract laceration after operative vaginal delivery: successful treatment with transcatheter arterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Fargeaudou, Yann; Soyer, Philippe; Sirol, Marc; Dref, Olivier le; Boudiaf, Mourad; Dahan, Henri; Rymer, Roland [Hopital Lariboisiere-APHP-GHU Nord et Universite Diderot-Paris 7, Department of Abdominal and Interventional Imaging, Paris (France); Morel, Olivier [Hopital Lariboisiere-APHP-GHU Nord et Universite Diderot-Paris 7, Department of Obstetrics, Paris (France)

    2009-09-15

    The purpose of this study was to report our experience in the management of severe primary postpartum hemorrhage due to genital tract laceration following operative vaginal delivery with forceps using pelvic transcatheter arterial embolization (TAE). Ten women (mean age, 31.9 years) with severe primary postpartum hemorrhage due to genital tract laceration after operative delivery with forceps were treated with TAE. TAE was indicated because of intractable bleeding that could not be controlled with uterotonic drugs, blood transfusion, attempted suturing and packing in all patients. Postdelivery perineal examination showed cervical or vaginal tears in all women and associated paravaginal hematoma in four. Angiography revealed extravasation of contrast material in six patients. TAE performed with gelatin sponge allowed to control the bleeding in all patients. Cervical and vaginal suturing was made possible and successfully achieved in the six women who had failed suturing attempts before TAE. Paravaginal hematoma was successfully evacuated in four patients in whom it was present after TAE. No complications related to TAE were noted. We conclude that in women with severe primary postpartum hemorrhage due to genital tract laceration after operative delivery with forceps, TAE is effective and safe for stopping the bleeding and helps genital tract suturing and evacuation of hematoma. (orig.)

  12. Severe primary postpartum hemorrhage due to genital tract laceration after operative vaginal delivery: successful treatment with transcatheter arterial embolization

    International Nuclear Information System (INIS)

    Fargeaudou, Yann; Soyer, Philippe; Sirol, Marc; Dref, Olivier le; Boudiaf, Mourad; Dahan, Henri; Rymer, Roland; Morel, Olivier

    2009-01-01

    The purpose of this study was to report our experience in the management of severe primary postpartum hemorrhage due to genital tract laceration following operative vaginal delivery with forceps using pelvic transcatheter arterial embolization (TAE). Ten women (mean age, 31.9 years) with severe primary postpartum hemorrhage due to genital tract laceration after operative delivery with forceps were treated with TAE. TAE was indicated because of intractable bleeding that could not be controlled with uterotonic drugs, blood transfusion, attempted suturing and packing in all patients. Postdelivery perineal examination showed cervical or vaginal tears in all women and associated paravaginal hematoma in four. Angiography revealed extravasation of contrast material in six patients. TAE performed with gelatin sponge allowed to control the bleeding in all patients. Cervical and vaginal suturing was made possible and successfully achieved in the six women who had failed suturing attempts before TAE. Paravaginal hematoma was successfully evacuated in four patients in whom it was present after TAE. No complications related to TAE were noted. We conclude that in women with severe primary postpartum hemorrhage due to genital tract laceration after operative delivery with forceps, TAE is effective and safe for stopping the bleeding and helps genital tract suturing and evacuation of hematoma. (orig.)

  13. Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

    Science.gov (United States)

    Soto, Angela Ganan; McIntyre, Adam; Agrawal, Sungeeta; Bialo, Shara R; Hegele, Robert A; Boney, Charlotte M

    2015-09-04

    Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.

  14. Tropical spastic paraparesis in Northeastern Brazil

    Directory of Open Access Journals (Sweden)

    C. M. de Castro Costa

    1989-06-01

    Full Text Available Ten possible cases of tropical spastic paraparesis (TSP in Northeastern Brazil (Ceará are presented. They show the typical symptoms and signs of TSP consisting of weakness of the lower limbs, spastic gait, hiperreflexia, bladder dysfunction and variable signs of posterior columns impairment. The laboratory examinations excluded other compressive, infective, degenerative or demyelinating lesions of their spinal cord. Our patients age ranged from 21 to 59 years, all were of black origin and all were of lower social class. There was a slight preponderance of females. An etiological implication of a retrovirus (HTLV-I has been shown for TSP, but for lack of technical conditions we could not determine it in our patients, and that stands as our subsequent step in those and further cases.

  15. Mania associated with complicated hereditary spastic paraparesis

    Directory of Open Access Journals (Sweden)

    Raghavendra B Nayak

    2011-01-01

    Full Text Available Hereditary spastic paraparesis (HSP is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient′s father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  16. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  17. Mania associated with complicated hereditary spastic paraparesis.

    Science.gov (United States)

    Nayak, Raghavendra B; Bhogale, Govind S; Patil, Nanasaheb M; Pandurangi, Aditya A

    2011-07-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient's father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  18. [H reflex in patients with spastic quadriplegia].

    Science.gov (United States)

    Miyama, Sahoko; Arimoto, Kiyoshi; Kimiya, Satoshi

    2009-01-01

    Hoffmann reflex (H reflex) is an electrically elicited spinal monosynaptic reflex. H reflex was examined in 18 patients with spastic quadriplegia who had perinatal or postnatal problems. H reflex was elicitable in 11 patients for the abductor pollicis brevis (61.1%), 10 for the abductor digiti minimi (55.6%) and 16 for the abductor hallucis (88.9%). Because the abductor pollicis brevis and the abductor digiti minimi do not exhibit H reflex in normal subjects, it was suggested that the excitability of alpha motor neurons innervating these muscles was increased. H reflex was not detected for the extensor digitorum brevis in any patients, indicating the difference in the excitability among alpha motor neurons. In some patients, H reflex did not disappear under supramaximal stimuli. We conclude that the mechanism of evolution of H reflex in patients with spastic quadriplegia is different from that in normal subjects.

  19. Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.

    Science.gov (United States)

    Panas, Marios; Karadima, Georgia; Kalfakis, Nikolaos; Vassilopoulos, Dimitris

    2011-07-01

    Huntington disease (HD) is an autosomal dominant neurodegenerative disease characterized by choreic hyperkinesias, cognitive decline, and psychiatric manifestations, caused by an increased number of CAG repeats in the IT15 gene on chromosome 4p16.3. Silver syndrome is a rare autosomal dominant form of complicated hereditary spastic paraplegia, characterized by lower limb spasticity in addition to amyotrophy of the small muscles of the hands. In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that includes the HD gene. We present a Greek family with 5 members diagnosed with HD in 4 generations. All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally. None of the other family members showed features of either HD or spastic paraplegia. The reported coexistence of Silver syndrome with HD in 4 generations is not fortuitous, suggesting that these 2 distinct genetic disorders are in linkage disequilibrium. Although rare, it is reasonable to expect additional similar cases. Clinical neurologists should perhaps investigate this possibility in cases combining features of HD and involvement of the upper and lower motor neurons.

  20. Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

    Science.gov (United States)

    Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

    2011-07-01

    A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

  1. Gait asymmetry, ankle spasticity, and depression as independent predictors of falls in ambulatory stroke patients.

    Directory of Open Access Journals (Sweden)

    Ta-Sen Wei

    Full Text Available Falls are the leading cause of injury in stroke patients. However, the cause of a fall is complicated, and several types of risk factors are involved. Therefore, a comprehensive model to predict falls with high sensitivity and specificity is needed.This study was a prospective study of 112 inpatients in a rehabilitation ward with follow-up interviews in patients' homes. Evaluations were performed 1 month after stroke and included the following factors: (1 status of cognition, depression, fear of fall and limb spasticity; (2 functional assessments [walking velocity and the Functional Independence Measure (FIM]; and (3 objective, computerized gait and balance analyses. The outcome variable was the number of accidental falls during the 6-month follow-up period after baseline measurements.The non-faller group exhibited significantly better walking velocity and FIM scale compared to the faller group (P < .001. The faller group exhibited higher levels of spasticity in the affected limbs, asymmetry of gait parameters in single support (P < .001, double support (P = .027, and step time (P = .003, and lower stability of center of gravity in the medial-lateral direction (P = .008. Psychological assessments revealed that the faller group exhibited more severe depression and lower confidence without falling. A multivariate logistic regression model identified three independent predictors of falls with high sensitivity (82.6% and specificity (86.5%: the asymmetry ratio of single support [adjusted odds ratio, aOR = 2.2, 95% CI (1.2-3.8], the level of spasticity in the gastrocnemius [aOR = 3.2 (1.4-7.3], and the degree of depression [aOR = 1.4 (1.2-1.8].This study revealed depression, in additional to gait asymmetry and spasticity, as another independent factor for predicting falls. These results suggest that appropriate gait training, reduction of ankle spasticity, and aggressive management of depression may be critical to prevent falls in stroke patients.

  2. Repetitive Transcranial Magnetic Stimulation in Patients with Hereditary Spastic Paraplegia

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    Mehmet Ağırman

    2011-06-01

    Full Text Available Hereditary spastic paraplegia (HSPP is a heterogeneous genetic disease characterized by progressive spasticity of lower extremities. Spasticity is a major cause of long-term disability in HSPP and significantly affects the functional life of patients. Repetitive transcranial magnetic stimulation (rTMS is widely used in diagnosis and treatment of many neurological and psychiatric diseases. Although the positive impacts of rTMS for spasticity have been reported, no study has been found on HSPP. We present two HSPP patients treated with low frequency rTMS (20 minutes at a frequency of 1 Hz (1200 pulses, for a period of 10 treatment sessions.

  3. Repetitive Transcranial Magnetic Stimulation in Patients with Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Mehmet Ağırman

    2011-06-01

    Full Text Available Hereditary spastic paraplegia (HSPP is a heterogeneous genetic disease characterized by progressive spasticity of lower extremities. Spasticity is a major cause of long-term disability in HSPP and significantly affects the functional life of patients. Repetitive transcranial magnetic stimulation (rTMS is widely used in diagnosis and treatment of many neurological and psychiatric diseases. Although the positive impacts of rTMS for spasticity have been reported, no study has been found on HSPP. We present two HSPP patients treated with low frequency rTMS (20 minutes at a frequency of 1 Hz (1200 pulses, for a period of 10 treatment sessions

  4. Severe Hyponatremia due to Levofloxacin Treatment for Pseudomonas aeruginosa Community-Acquired Pneumonia in a Patient with Oropharyngeal Cancer

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    Mihaela Mocan

    2016-01-01

    Full Text Available Hyponatremia (serum Na levels of <135 mEq/L is the most common electrolyte imbalance encountered in clinical practice, affecting up to 15–28% of hospitalized patients. This case report refers to a middle-aged man with severe hyponatremia due to Syndrome of Inappropriate Antidiuretic Hormone Secretion related to four possible etiological factors: glossopharyngeal squamous cell carcinoma, cisplatin treatment, right basal pneumonia with Pseudomonas aeruginosa, and the treatment with Levofloxacin. This case report discusses a rare complication of common conditions and of a common treatment. To our knowledge this is the first case of hyponatremia related to Levofloxacin and the second related to fluoroquinolones.

  5. Exchange transfusion of least incompatible blood for severe hemolytic disease of the newborn due to anti-Rh17.

    Science.gov (United States)

    Li, Bi-juan; Jiang, Yuan-jun; Yuan, Fen; Ye, Hong-xing

    2010-02-01

    HDN attributed to the rare Rh variants has become more and more significant caused by anti-D, but the compatible blood is usually very difficult to obtain when exchange transfusion is required. We treated a 10-hour neonate of O, D + C + c - E - e+ blood group with severe HDN due to anti-Rh17 with least incompatible blood typed O, D + C - c + E + e-. The neonatal hemolysis was relieved obviously and bilirubin was reduced gradually after exchange transfusion. The infant was discharged in good health 13 days after birth with 135.0 g/L, 28.0 micromol/L and 10.7 micromol/L of Hb, total bilirubin and direct bilirubin, respectively. No sequelae were observed in a three-year follow-up. The result suggesting that the least incompatible blood is an alternative choice for exchange transfusion in severe HDN due to anti-Rh17 in case that Rh17 antigen-negative blood is unavailable.

  6. Intramuscular Connective Tissue Differences in Spastic and Control Muscle: A Mechanical and Histological Study

    Science.gov (United States)

    de Bruin, Marije; Smeulders, Mark J.; Kreulen, Michiel; Huijing, Peter A.; Jaspers, Richard T

    2014-01-01

    Cerebral palsy (CP) of the spastic type is a neurological disorder characterized by a velocity-dependent increase in tonic stretch reflexes with exaggerated tendon jerks. Secondary to the spasticity, muscle adaptation is presumed to contribute to limitations in the passive range of joint motion. However, the mechanisms underlying these limitations are unknown. Using biopsies, we compared mechanical as well as histological properties of flexor carpi ulnaris muscle (FCU) from CP patients (n = 29) and healthy controls (n = 10). The sarcomere slack length (mean 2.5 µm, SEM 0.05) and slope of the normalized sarcomere length-tension characteristics of spastic fascicle segments and single myofibre segments were not different from those of control muscle. Fibre type distribution also showed no significant differences. Fibre size was significantly smaller (1933 µm2, SEM 190) in spastic muscle than in controls (2572 µm2, SEM 322). However, our statistical analyses indicate that the latter difference is likely to be explained by age, rather than by the affliction. Quantities of endomysial and perimysial networks within biopsies of control and spastic muscle were unchanged with one exception: a significant thickening of the tertiary perimysium (3-fold), i.e. the connective tissue reinforcement of neurovascular tissues penetrating the muscle. Note that this thickening in tertiary perimysium was shown in the majority of CP patients, however a small number of patients (n = 4 out of 23) did not have this feature. These results are taken as indications that enhanced myofascial loads on FCU is one among several factors contributing in a major way to the aetiology of limitation of movement at the wrist in CP and the characteristic wrist position of such patients. PMID:24977410

  7. Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection.

    Science.gov (United States)

    Legg, Julian; Davies, Evan; Raich, Annie L; Dettori, Joseph R; Sherry, Ned

    2014-04-01

    Cerebral palsy (CP) is a group of nonprogressive syndromes of posture and motor impairment associated with lesions of the immature brain. Spastic quadriplegia is the most severe form with a high incidence of scoliosis, back pain, respiratory compromise, pelvic obliquity, and poor sitting balance. Surgical stabilization of the spine is an effective technique for correcting deformity and restoring sitting posture. The decision to operate in this group of patients is challenging. The aim of this study is to determine the benefits of surgical correction of scoliosis in children with spastic quadriplegia, the adverse effects of this treatment, and what preoperative factors affect patient outcome after surgical correction. A systematic review was undertaken to identify studies describing benefits and adverse effects of surgery in spastic quadriplegia. Factors affecting patient outcome following surgical correction of scoliosis were assessed. Studies involving adults and nonspastic quadriplegia were excluded. A total of 10 case series and 1 prospective and 3 retrospective cohort studies met inclusion criteria. There was significant variation in the overall risk of complications (range, 10.9-70.9%), mortality (range, 2.8-19%), respiratory/pulmonary complications (range, 26.9-57.1%), and infection (range, 2.5-56.8%). Factors associated with a worse outcome were a significant degree of thoracic kyphosis, days in the intensive care unit, and poor nutritional status. Caregivers report a high degree of satisfaction with scoliosis surgery for children with spastic quadriplegia. There is limited evidence of preoperative factors that can predict patient outcome after scoliosis. There is a need for well-designed prospective studies of scoliosis surgery in spastic quadriplegia.

  8. Clinical correlates and outcomes in a group of Puerto Ricans with systemic lupus erythematosus hospitalized due to severe infections

    Science.gov (United States)

    Jordán-González, Patricia; Shum, Lee Ming; González-Sepúlveda, Lorena

    2018-01-01

    Objective: Infections are a major cause of morbidity and mortality in systemic lupus erythematosus. Clinical outcomes of systemic lupus erythematosus patients hospitalized due to infections vary among different ethnic populations. Thus, we determined the outcomes and associated factors in a group of Hispanics from Puerto Rico with systemic lupus erythematosus admitted due to severe infections. Methods: Records of systemic lupus erythematosus patients admitted to the Adult University Hospital, San Juan, Puerto Rico, from January 2006 to December 2014 were examined. Demographic parameters, lupus manifestations, comorbidities, pharmacologic treatments, inpatient complications, length of stay, readmissions, and mortality were determined. Patients with and without infections were compared using bivariate and multivariate analyses. Results: A total of 204 admissions corresponding to 129 systemic lupus erythematosus patients were studied. The mean (standard deviation) age was 34.7 (11.6) years; 90% were women. The main causes for admission were lupus flare (45.1%), infection (44.0%), and initial presentation of systemic lupus erythematosus (6.4%). The most common infections were complicated urinary tract infections (47.0%) and soft tissue infections (42.0%). In the multivariate analysis, patients admitted with infections were more likely to have diabetes mellitus (odds ratio: 4.20, 95% confidence interval: 1.23–14.41), exposure to aspirin prior to hospitalization (odds ratio: 4.04, 95% confidence interval: 1.03–15.80), and higher mortality (odds ratio: 6.00, 95% confidence interval: 1.01–35.68) than those without infection. Conclusion: In this population of systemic lupus erythematosus patients, 44% of hospitalizations were due to severe infections. Patients with infections were more likely to have diabetes mellitus and higher mortality. Preventive and control measures of infection could be crucial to improve survival in these patients.

  9. Muscle releases to improve passive motion and relieve pain in patients with spastic hemiplegia and elbow flexion contractures.

    Science.gov (United States)

    Namdari, Surena; Horneff, J Gabe; Baldwin, Keith; Keenan, Mary Ann

    2012-10-01

    Patients with spastic hemiplegia after upper motor neuron (UMN) injury can develop elbow contractures. This study evaluated outcomes of elbow releases in treating spastic elbow flexion contractures in hemiplegic patients. Adults with spastic hemiplegia due to UMN injury who underwent elbow releases (brachialis, brachioradialis, and biceps muscles) were included. Nonoperative treatment was unsuccessful in all patients. Patients complained of difficulty with passive functions. Passive range of motion (ROM), pain relief, Modified Ashworth spasticity score, and complications were evaluated preoperatively and postoperatively. There were 8 men and 21 women with an average age of 52.4 years (range, 24.1-81.4 years). Seventeen patients had pain preoperatively. Postoperative follow-up was a mean of 1.7 years (range, 1-4.5 years). Preoperatively, patients lacked a mean of 78° of passive elbow extension compared with 17° postoperatively (P .05). Releases of the brachialis, brachioradialis, and biceps muscles can be an effective means of pain relief, improved passive ROM, and decreased spasticity in patients with elbow flexion deformity after UMN injury. Copyright © 2012 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

  10. Value of pelvic embolization in the management of severe postpartum hemorrhage due to placenta accreta, increta or percreta

    International Nuclear Information System (INIS)

    Soyer, Philippe; Morel, Olivier; Fargeaudou, Yann; Sirol, Marc; Staub, Fabrice; Boudiaf, Mourad

    2011-01-01

    Objectives: To evaluate the role, efficacy and safety of pelvic embolization in the management of severe postpartum hemorrhage in women with placenta accreta, increta or percreta. Methods: The clinical files and angiographic examinations of 12 consecutive women with placenta accreta (n = 4), increta (n = 2) or percreta (n = 6) who were treated with pelvic embolization because of severe primary (n = 10) or secondary (n = 2) postpartum hemorrhage were reviewed. Before embolization, four women had complete placental conservation, four had partial placental conservation, three had an extirpative approach and one had hysterectomy after failed partial conservative approach. Results: In 10 women, pelvic embolization was successful and stopped the bleeding, after one (n = 7) or two sessions (n = 3). Emergency hysterectomy was needed in two women with persistent bleeding after embolization, both with placenta percreta and bladder involvement first treated by extirpation. One case of regressive hematoma at the puncture site was the single complication of embolization. Conclusions: In women with severe postpartum hemorrhage due to placenta accreta, increta or percreta, pelvic embolization is effective for stopping the bleeding in most cases, thus allowing uterine conservation and future fertility. Further studies, however, should be done to evaluate the potential of pelvic embolization in women with placenta percreta with bladder involvement.

  11. MR imaging of spastic diplegia. The importance of corpus callosum

    International Nuclear Information System (INIS)

    Hayakawa, K.; Kanda, T.; Hashimoto, K.; Okuno, Y.; Yamori, Y.; Yuge, M.; Ando, R.; Ozaki, N.; Tamamoto, A.

    1996-01-01

    Purpose: The MR findings in patients with spastic diplegia were investigated and the role of MR imaging in assessing the extent of brain injury was evaluated. Material and Methods: 39 male and 24 female patients (preterm/term 43/20) were imaged using a 0.5 T MR system. Results: The MR findings in term patients were quite different from those in preterm patients; 55% of the term patients showed normal and minimal changes on MR, whereas 90.7% of the 43 preterm children had periventricular leucomalacia. The deep cerebral white matter was the most frequently involved site. Objective measurements revealed significant reductions of the entire sagittal area of corpus callosum in diplegic patients in comparison with normal controls. The motor plasy severity correlated well with the extent of corpus callosum involvement. Conclusion: The corpus callosum appears to be a sensitive marker site for the assessment of the extent of white matter injury. (orig.)

  12. Botulinum toxin treatment for limb spasticity in childhood cerebral palsy

    Directory of Open Access Journals (Sweden)

    Vito ePavone

    2016-02-01

    Full Text Available CP is the most common cause of chronic disability in childhood occurring in 2 to 2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects and possible resistance as well as specific use in the upper and lower limbs muscles

  13. Contractures and involuntary muscle overactivity in severe brain injury.

    Science.gov (United States)

    Pohl, Marcus; Mehrholz, Jan; Rockstroh, Günter; Rückriem, Stefan; Koch, Rainer

    2007-04-01

    The aim of the present study was to evaluate the association of contractures with an increase or reduction of non-spastic muscle overactivity due to severe cerebral damage. Forty-five patients with tetraparesis after severe cerebral damage were investigated. Three groups were defined based on the presence of spasticity (revealed as resistance to passive stretch (= hypertonia)), and the presence of contracture of the relevant knee joint: Group(s) (17 patients with hypertonia without contracture), Group(s+c) (20 patients with hypertonia and contracture), and Group(c) (eight patients without hypertonia and with contracture). In all groups spontaneous involuntary muscle activity was assessed continuously over a 12-hour period through isometric measurement of knee joint flexion torque. A mathematical algorithm differentiated an hourly muscle activity spectrum (PI(h)). The frequency of peaks (peaks(h)) from the activity spectrum was determined. We revealed that Group(s) had higher PI(h) and more frequent peaks(h) compared with Group(s+c) and Group(c) (p0.05). The presence of contractures was associated with lower involuntary muscle overactivity in terms of lower PI(h) and less frequent peaks(h), indicating that contractures may be associated with reduced non-spastic positive features of the upper motor neurone syndrome in patients with severe brain damage.

  14. Management of spastic hand by selective peripheral neurotomies ...

    African Journals Online (AJOL)

    Introduction: Selective peripheral neurotomies (SPN) are proposed when spasticity is focalized on muscles that are under the control of a single or few peripheral nerves. Objective: This study was done to evaluate the functional results of SPN of median and ulnar nerves in 10 patients who had spastic hyperflexion of the ...

  15. New insights into the pathophysiology of post-stroke spasticity

    Directory of Open Access Journals (Sweden)

    Sheng eLi

    2015-04-01

    Full Text Available Spasticity is one of many consequences after stroke. It is characterized by a velocity-dependent increase in resistance during passive stretch, resulting from hyperexcitability of the stretch reflex. The underlying mechanism of the hyperexcitable stretch reflex, however, remains poorly understood. Accumulated experimental evidence has supported supraspinal origins of spasticity, likely from an imbalance between descending inhibitory and facilitatory regulation of spinal stretch reflexes secondary to cortical disinhibition after stroke. The excitability of reticulospinal and vestibulospinal tracts has been assessed in stroke survivors with spasticity using non-invasive indirect measures. There are strong experimental findings that support the reticulospinal hyperexcitability as a prominent underlying mechanism of post-stroke spasticity. This mechanism can at least partly account for clinical features associated with spasticity and provide insightful guidance for clinical assessment and management of spasticity. However, the possible role of VST hyperexcitability can not be ruled out from indirect measures. In vivo measure of individual brainstem nuclei in stroke survivors with spasticity using advanced fMRI techniques in the future is probably able to provide direct evidence of pathogenesis of post-stroke spasticity.

  16. Spasticity, an impairment that is poorly defined and poorly measured

    NARCIS (Netherlands)

    Malhotra, S.; Malhotra, S.; Pandyan, A.D.; Day, C.R.; Jones, Valerie M.; Hermens, Hermanus J.

    Objective: To explore, following a literature review, whether there is a consistent definition and a unified assessment framework for the term 'spasticity'. The congruence between the definitions of spasticity and the corresponding methods of measurement were also explored. Data sources: The search

  17. New insights into the pathophysiology of post-stroke spasticity.

    Science.gov (United States)

    Li, Sheng; Francisco, Gerard E

    2015-01-01

    Spasticity is one of many consequences after stroke. It is characterized by a velocity-dependent increase in resistance during passive stretch, resulting from hyperexcitability of the stretch reflex. The underlying mechanism of the hyperexcitable stretch reflex, however, remains poorly understood. Accumulated experimental evidence has supported supraspinal origins of spasticity, likely from an imbalance between descending inhibitory and facilitatory regulation of spinal stretch reflexes secondary to cortical disinhibition after stroke. The excitability of reticulospinal (RST) and vestibulospinal tracts (VSTs) has been assessed in stroke survivors with spasticity using non-invasive indirect measures. There are strong experimental findings that support the RST hyperexcitability as a prominent underlying mechanism of post-stroke spasticity. This mechanism can at least partly account for clinical features associated with spasticity and provide insightful guidance for clinical assessment and management of spasticity. However, the possible role of VST hyperexcitability cannot be ruled out from indirect measures. In vivo measure of individual brainstem nuclei in stroke survivors with spasticity using advanced fMRI techniques in the future is probably able to provide direct evidence of pathogenesis of post-stroke spasticity.

  18. Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Michael Y. Torchinsky

    2011-01-01

    Full Text Available Isolated ACTH deficiency causes life-threatening severe hypoglycemia. A 7-year-old girl with hypoglycemia due to this rare disorder is described. Our patient had undetectable plasma ACTH repeatedly and cortisol 0 mcg/dl before and after ACTH 1-24 stimulation. There was no evidence of other pituitary hormone deficiency. Glucocorticoid replacement therapy resulted in resolution of all symptoms and normalization of blood glucose. Previously published data on isolated ACTH deficiency in children is summarized. Review of the literature showed that the prevalence of this condition could be underestimated in the neonatal period and in Prader-Willi syndrome. Isolated ACTH deficiency occurs in older children as well as in neonates.

  19. Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature

    Directory of Open Access Journals (Sweden)

    M S Elston

    2017-07-01

    Full Text Available Cushing’s syndrome (CS due to ectopic adrenocorticotrophic hormone (ACTH is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To report a case of severe CS due to ACTH production from prostate neuroendocrine carcinoma and summarise previous published cases. A 71-year-old male presented with profound hypokalaemia, oedema and new onset hypertension. The patient reported two weeks of weight gain, muscle weakness, labile mood and insomnia. CS due to ectopic ACTH production was confirmed with failure to suppress cortisol levels following low- and high-dose dexamethasone suppression tests in the presence of a markedly elevated ACTH and a normal pituitary MRI. Computed tomography demonstrated an enlarged prostate with features of malignancy, confirmed by MRI. Subsequent prostatic biopsy confirmed neuroendocrine carcinoma of small cell type and conventional adenocarcinoma of the prostate. Adrenal steroidogenesis blockade was commenced using ketoconazole and metyrapone. Complete biochemical control of CS and evidence of disease regression on imaging occurred after four cycles of chemotherapy with carboplatin and etoposide. By the sixth cycle, the patient demonstrated radiological progression followed by recurrence of CS and died nine months after initial presentation. Prostate neuroendocrine carcinoma is a rare cause of CS that can be rapidly fatal, and early aggressive treatment of the CS is important. In CS where the cause of EAS is unable to be identified, a pelvic source should be considered and imaging of the pelvis carefully reviewed.

  20. Bone mineral density and insulin-like growth factor-1 in children with spastic cerebral palsy.

    Science.gov (United States)

    Nazif, H; Shatla, R; Elsayed, R; Tawfik, E; Osman, N; Korra, S; Ibrahim, A

    2017-04-01

    Children with cerebral palsy (CP) have significant decrease linear growth rate and low bone mineral density (BMD). This study is to evaluate BMD in children with CP and its relation to the levels of insulin-like growth factor-1 (IGF-1). This cross-sectional study was carried out on 58 children suffering from spastic CP with the age range 4-12 years compared to 19 controls. All assessed by dual energy x-ray absorptiometry (DXA) to measure BMD, serum level of IGF-1, and serum vitamin D. The patients were classified according to their GMFCS. Fractures were reported in seven (12.1%) of cases. Our study demonstrated that, IGF-1 level and BMD decrease in correlation with the severity of CP. IGF-1correlates positively with serum vitamin D, BMI, and BMD. CP children with severe GMFCS level or who use anticonvulsive drugs are at a high risk for low BMD and low levels of IGF-1. Both BMD and IGF-1 were significantly in low children with spastic CP; IGF-1 negatively correlates with the severity of osteopenia in children with spastic. Children with CP who are not independently ambulant or with severe GMFCS level or who use anticonvulsive drugs are at a high risk for developing low BMD.

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

    Science.gov (United States)

    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…

  2. Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis

    NARCIS (Netherlands)

    Niet, M. de; Weerdesteyn, V.G.M.; Bot, S.T. de; Warrenburg, B.P.C. van de; Geurts, A.C.H.

    2013-01-01

    OBJECTIVES: The contribution of spasticity to postural imbalance in patients with upper motor neuron syndrome is still unclear. This study aimed to evaluate the responses to support-surface perturbations in patients with hereditary spastic paraparesis (HSP). These patients typically suffer from

  3. Improved split renal function after percutaneous nephrostomy in young adults with severe hydronephrosis due to ureteropelvic junction obstruction.

    Science.gov (United States)

    Zhang, Shiwei; Zhang, Qing; Ji, Changwei; Zhao, Xiaozhi; Liu, Guangxiang; Zhang, Shun; Li, Xiaogong; Lian, Huibo; Zhang, Gutian; Guo, Hongqian

    2015-01-01

    We evaluated percutaneous nephrostomy for adult kidneys with severe hydronephrosis due to ureteropelvic junction obstruction and less than 10% split renal function. In this retrospective analysis we included patients who underwent percutaneous nephrostomy for unilateral ureteropelvic junction obstruction of the kidneys with hydronephrosis and less than 10% split renal function at our hospital between May 2009 and January 2012. Adults (age 18 years or greater) were divided into those 35 years or younger (young adults) and older than 35 years (older adults). The percutaneous nephrostomy remained in situ a mean ± SD of 6.62 ± 2.55 weeks and patients underwent repeat renography before pyeloplasty. When there was no significant improvement in split renal function (10% or greater) and drainage (greater than 400 ml per day), nephrectomy was performed. Otherwise pyeloplasty was performed. Patients were followed by renography, ultrasound and contrast computerized tomography at 3 and 6 months, at 1 year and annually thereafter. Of 53 patients 30 (56.6%) showed improvement after percutaneous nephrostomy drainage and urine output greater than 400 ml per day with percutaneous nephrostomy. Pyeloplasty was then performed. Of 29 young adults 24 (82.8%) showed improved split renal function vs 6 of 24 older adults (25%). Nephrectomy of the other 23 kidneys was performed. At a mean followup of 19.27 ± 7.82 months (range 12 to 36), no patient showed hypertension or urinary tract infection. Split renal function detected by renography may not accurately predict recovered, poorly functioning kidneys, especially in young adults. First observing the recoverability of hydronephrotic kidneys by percutaneous nephrostomy drainage and then preserving select kidneys may be an effective method to manage poorly functioning kidneys due to ureteropelvic junction obstruction. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights

  4. The Use of Botulinum Toxin for the Treatment of Muscle Spasticity in the First 2 Years of Life

    Science.gov (United States)

    Bakheit, Abdel Magid

    2010-01-01

    Although there are sound theoretical reasons for the use of botulinum toxin (Btx) as early as possible in the management of severe childhood muscle spasticity, the experience with its safety in children younger than 2 years of age is limited and information about its possible effects on the development and maturation of the human motor system…

  5. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

    Science.gov (United States)

    Casari, G; De Fusco, M; Ciarmatori, S; Zeviani, M; Mora, M; Fernandez, P; De Michele, G; Filla, A; Cocozza, S; Marconi, R; Dürr, A; Fontaine, B; Ballabio, A

    1998-06-12

    Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3-linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations, both resulting in a frameshift, were found in a complicated and in a pure form of HSP. Paraplegin is highly homologous to the yeast mitochondrial ATPases, AFG3, RCA1, and YME1, which have both proteolytic and chaperon-like activities at the inner mitochondrial membrane. Immunofluorescence analysis and import experiments showed that Paraplegin localizes to mitochondria. Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders.

  6. A COMPARATIVE STUDY ON EFFECTIVENESS OF OPEN VERSUS CLOSED KINETIC CHAIN EXERCISES TO IMPROVE GAIT IN SPASTIC DIPLEGIC CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    Trishna Saikia Baruah

    2016-04-01

    Full Text Available Background: Cerebral Palsy (CP describes a non- progressive but not unchanging disorder of movement and posture due to an insult to or anomaly of the developing brain. People with spastic diplegia typically walk slowly and have difficulties in performing activities such as walking running or jumping. Children with spastic diplegic cerebral palsy are relied more on cadence to increase speed. Hence, the purpose of this study is to compare the effectiveness of open and closed kinetic chain (OKC and CKC exercises in improving gait in spastic diplegic cerebral palsy. Methods: 30 children with spastic diplegic cerebral palsy of both genders with age 4-12 years was taken. Cadence and distance covered in 1Minute Walk Test was calculated before and after the test. The intervention for group A was CKC exercises and group B was OKC exercises for 3 days a week for 6 weeks and each session lasted for 30-45 minutes was given for both the groups. Results: Paired t-test was performed to find effectiveness of CKC and OKC improving gait in spastic diplegic CP to see the difference of means of 1minute walk, t = 10.789 which is significant (p = 0.000 and for cadence, t = 3.37 which is highly significant (p = 0.00 implying that cadence and distance covered in1minute walk was more with CKC exercises. Conclusion: Based on the result it is concluded that CKC exercises are effective in improving gait than OKC exercises in spastic diplegic cerebral palsy.

  7. A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses.

    Science.gov (United States)

    Tong, Fang; Liang, Yue; Khan, Muhammad Fasahat; Zhang, Lin; Li, Wenhe; Mahmoodurrahman, Mohammed; Zhou, Yiwu

    2016-09-15

    Branchial cleft anomalies constitute a frequently encountered and commonly non-lethal disease in otolaryngology, and result from aberrant embryonic development. The third branchial cleft fistula is one of the four known specific types of branchial cleft anomalies, and always presents as recurrent neck abscess and suppurative thyroiditis. Here, we report an unexpected death due to severe neck infection following a third branchial cleft fistula. A 19-year-old man was sent to the hospital with a 1-week history of recurrent left-sided neck abscess, and was scheduled for incision and drainage of the abscess. However, before the surgery was performed, the man's condition deteriorated and he died. A review of his medical history showed that he had undergone a previous incision and drainage for a neck abscess 2 years ago. Postmortem examination revealed that the fatal neck abscess was induced by a third branchial cleft fistula. We conclude that a histopathological examination of neck tissue combined with a detailed review of medical history and examination of ultrasonographic and CT images can provide a rapid and accurate diagnosis of third branchial cleft fistula. This common, non-lethal disease can potentially lead to death if the neck infection is not properly diagnosed and treated. In medico-legal practice, medical examiners should be aware of this condition, as this knowledge would be important in the diagnosis of the cause of death.

  8. Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders

    Directory of Open Access Journals (Sweden)

    Ingrid Faber

    Full Text Available ABSTRACT Hereditary spastic paraplegia (HSP is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found.

  9. An estimate by two methods of thyroid absorbed doses due to BRAVO fallout in several Northern Marshall Islands.

    Science.gov (United States)

    Musolino, S V; Greenhouse, N A; Hull, A P

    1997-10-01

    Estimates of the thyroid absorbed doses due to fallout originating from the 1 March 1954 BRAVO thermonuclear test on Bikini Atoll have been made for several inhabited locations in the Northern Marshall Islands. Rongelap, Utirik, Rongerik and Ailinginae Atolls were also inhabited on 1 March 1954, where retrospective thyroid absorbed doses have previously been reconstructed. The current estimates are based primarily on external exposure data, which were recorded shortly after each nuclear test in the Castle Series, and secondarily on soil concentrations of 137Cs in samples collected in 1978 and 1988, along with aerial monitoring done in 1978. The external exposures and 137Cs soil concentrations were representative of the atmospheric transport and deposition patterns of the entire Castle Series tests and show that the BRAVO test was the major contributor to fallout exposure during the Castle series and other test series which were carried out in the Marshall Islands. These data have been used as surrogates for fission product radioiodines and telluriums in order to estimate the range of thyroid absorbed doses that may have occurred throughout the Marshall Islands. Dosimetry based on these two sets of estimates agreed within a factor of 4 at the locations where BRAVO was the dominant contributor to the total exposure and deposition. Both methods indicate that thyroid absorbed doses in the range of 1 Gy (100 rad) may have been incurred in some of the northern locations, whereas the doses at southern locations did not significantly exceed levels comparable to those from worldwide fallout. The results of these estimates indicate that a systematic medical survey for thyroid disease should be conducted, and that a more definitive dose reconstruction should be made for all the populated atolls and islands in the Northern Marshall Islands beyond Rongelap, Utirik, Rongerik and Ailinginae, which were significantly contaminated by BRAVO fallout.

  10. An estimate by two methods of thyroid absorbed doses due to BRAVO fallout in several northern Marshall Islands

    International Nuclear Information System (INIS)

    Musolino, S.V.; Hull, A.P.; Greenhouse, N.A.

    1997-01-01

    Estimates of the thyroid absorbed doses due to fallout originating from the 1 March 1954 BRAVO thermonuclear test on Bikini Atoll have been made for several inhabited locations in the Northern Marshall Islands. Rongelap, Utirik, Rongerik and Ailinginae Atolls were also inhabited on 1 March 1954, where retrospective thyroid absorbed doses have previously been reconstructed. Current estimates are based primarily on external exposure data, which were recorded shortly after each nuclear test in the Castle Series, and secondarily on soil concentrations of 137 Cs in samples collected in 1978 and 1988, along with aerial monitoring done in 1978. External exposures and 137 Cs Soil concentrations were representative of the atmospheric transport and deposition patterns of the entire Castle Series tests and show that the BRAVO test was the major contributor to fallout exposure during the Castle series and other test series which were carried out in the Marshall Islands. These data have been used as surrogates for fission product radioiodines and telluriums in order to estimate the range of thyroid absorbed doses that may have occurred throughout the Marshall Islands. Dosimetry based on these two sets of estimates agreed within a factor of 4 at the locations where BRAVO was the dominant contributor to the total exposure and deposition. Both methods indicate that thyroid absorbed doses in the range of 1 Gy (100 rad) may have been incurred in some of the northern locations, whereas the doses at southern locations did not significantly exceed levels comparable to those from worldwide fallout. The results of these estimates indicate that a systematic medical survey for thyroid disease should be conducted, and that a more definitive dose reconstruction should be made for all the populated atolls and islands in the Northern Marshall Islands beyond Rongelap, Utirik, Rongerik and Ailinginae, which were significantly contaminated by BRAVO fallout. 30 refs., 2 figs., 10 tabs

  11. MRI of autosomal dominant pure spastic paraplegia

    DEFF Research Database (Denmark)

    Krabbe, K.; Nielsen, J.E.; Fallentin, E.

    1997-01-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus...... callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a "corpus-callosum index" expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord...... at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and "corpus-callosum index" than controls. This finding, not reported previously...

  12. USE OF BOTULINUM TOXIN TYPE A IN THE TREATMENT OF SPASTICITY IN CHILDREN WITH CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    Ljiljana Lazić

    2011-06-01

    Full Text Available Cerebral palsy has an incidence of about 1-2 per 1000 live births, and in spite of the progress of neonatal medicine, it seems that the incidence will not subside in the near future. The most important characteristic of cerebral palsy is movement abnormality: spasticity, chorea, athetosis, ataxia, dystonia, as well as their different combinations. About 70% of children who suffer from cerebral palsy also suffer from some form of spasticity. Spasticity is a type of muscle hypertonicity characterized by rapid increase in resistance to passive stretching of muscles. The interest for botulinum toxin application in the treatment of spasticity has dramatically increased in the last 10 years. Botulinum toxin is the most powerful neurotoxin that is found in nature. It is produced by anaerobic bacteria – clostridium botulinum. It is produced in eight serotypes of which type A is the most commonly used. Botulinum toxin blocks neuromuscular transmission and causes irreversible weakness of the treated muscle. It has been used since 1993 in the treatment of cerebral palsy in children. The toxin effect is permanent and it results in irreversible denervation. Functional recovery is possible after 2-4 months, due to sprouting of nerve endings and the formation of new synaptic contacts. Treatment with botulinum toxin is safe. Adverse effects are rare, temporary and completely reversible. Application of botulinum toxin prevents or reduces contractures and deformities, and thus delays or avoids surgical treatment. Yet, physical therapy, which prolongs and improves the effects of botulinum toxin, remains an essential and most important form of therapy in the treatment of children with cerebral palsy.

  13. Physical Therapy in the Management of Pelvic Floor Muscles Hypertonia in a Woman with Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Aline Moreira Ribeiro

    2014-01-01

    Full Text Available Background. Pelvic floor (PF hypertonic disorders are a group of conditions that present with muscular hypertonia or spasticity, resulting in a diminished capacity to isolate, contract, and relax the PF. Their presentation includes voiding and sexual dysfunctions, pelvic pain, and constipation. Various factors are associated, such as complicated vaginal birth, muscular injury, scar tissue formation, and neuropathies. Study Design. The case of a single patient will be presented, together with the management strategies employed. Case Description. A woman with hereditary spastic paraparesis and a history of muscle spasticity and urinary and fecal complaints since childhood. She presented to this institution seeking treatment for pelvic pain, pain during intercourse, constipation, and micturition problems. A physical therapy protocol was developed, with the trial of several treatment modalities. Outcome. After some failed attempts, perineal and pelvic floor stretching proved to be very efficacious therapies for this patient’s complaint, leading to improved pain during intercourse, constipation, pelvic pain, and urinary stream. Discussion. PF spasticity can lead to severe disability and interfere with daily basic functions, such as micturition and evacuation. Physical therapy plays an essential role in the management of these patients and can lead to significant improvement in quality of life.

  14. Gait Trainer for Children with Spastic Cerebral Palsy

    National Research Council Canada - National Science Library

    Urhan, Oguzhan

    2001-01-01

    A device is developed to improve the walking ability of children with Spastic Cerebral Palsy, who have damages to the area of their brain which controls the muscle tone and that causes trouble walking...

  15. What's new in multiple sclerosis spasticity research? Poster session highlights.

    Science.gov (United States)

    Linker, Ralf

    2017-11-01

    Each year at the Multiple Sclerosis Experts Summit, relevant research in the field of multiple sclerosis spasticity is featured in poster sessions. The main studies presented at this year's meeting are summarized herein.

  16. Lower limb spasticity assessment using an inertial sensor: a reliability study

    International Nuclear Information System (INIS)

    Sterpi, I; Colombo, R; Caroli, A; Meazza, E; Maggioni, G; Pistarini, C

    2013-01-01

    Spasticity is a common motor impairment in patients with neurological disorders that can prevent functional recovery after rehabilitation. In the clinical setting, its assessment is carried out using standardized clinical scales. The aim of this study was to verify the applicability of inertial sensors for an objective measurement of quadriceps spasticity and evaluate its test–retest and inter-rater reliability during the implementation of the Wartenberg pendulum test. Ten healthy subjects and 11 patients in vegetative state with severe brain damage were enrolled in this study. Subjects were evaluated three times on three consecutive days. The test–retest reliability of measurement was assessed in the first two days. The third day was devoted to inter-rater reliability assessment. In addition, the lower limb muscle tone was bilaterally evaluated at the knee joint by the modified Ashworth scale. The factorial ANOVA analysis showed that the implemented method allowed us to discriminate between healthy and pathological conditions. The fairly low SEM and high ICC values obtained for the pendulum parameters indicated a good test–retest and inter-rater reliability of measurement. This study shows that an inertial sensor can be reliably used to characterize leg kinematics during the Wartenberg pendulum test and provide quantitative evaluation of quadriceps spasticity. (paper)

  17. A new approach to assess the spasticity in hamstrings muscles using mechanomyography antagonist muscular group.

    Science.gov (United States)

    Krueger, Eddy; Scheeren, Eduardo M; Nogueira-Neto, Guilherme N; Button, Vera Lúcia da S N; Nohama, Percy

    2012-01-01

    Several pathologies can cause muscle spasticity. Modified Ashworth scale (MAS) can rank spasticity, however its results depend on the physician subjective evaluation. This study aims to show a new approach to spasticity assessment by means of MMG analysis of hamstrings antagonist muscle group (quadriceps muscle). Four subjects participated in the study, divided into two groups regarding MAS (MAS0 and MAS1). MMG sensors were positioned over the muscle belly of rectus femoris (RF), vastus lateralis (VL) and vastus medialis (VM) muscles. The range of movement was acquired with an electrogoniometer placed laterally to the knee. The system was based on a LabVIEW acquisition program and the MMG sensors were built with triaxial accelerometers. The subjects were submitted to stretching reflexes and the integral of the MMG (MMG(INT)) signal was calculated to analysis. The results showed that the MMG(INT) was greater to MAS1 than to MAS0 [muscle RF (p = 0.004), VL (p = 0.001) and VM (p = 0.007)]. The results showed that MMG was viable to detect a muscular tonus increase in antagonist muscular group (quadriceps femoris) of spinal cord injured volunteers.

  18. Hereditary spastic paraplegias: membrane traffic and the motor pathway

    OpenAIRE

    Blackstone, Craig; O’Kane, Cahir J.; Reid, Evan

    2011-01-01

    Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent wo...

  19. 75 FR 64314 - Product Development Program for Interventions in Patients With Severe Bleeding Due to Trauma or...

    Science.gov (United States)

    2010-10-19

    ... this public workshop is to discuss possible paradigms for the evaluation of products indicated for use...-available basis beginning at 7:30 a.m. If you need special accommodations due to a disability, please...

  20. Effects of a Nintendo Wii exercise program on spasticity and static standing balance in spastic cerebral palsy.

    Science.gov (United States)

    Gatica-Rojas, Valeska; Cartes-Velásquez, Ricardo; Méndez-Rebolledo, Guillermo; Guzman-Muñoz, Eduardo; Lizama, L Eduardo Cofré

    2017-08-01

    This study sought to evaluate the effects of a Nintendo Wii Balance Board (NWBB) intervention on ankle spasticity and static standing balance in young people with spastic cerebral palsy (SCP). Ten children and adolescents (aged 72-204 months) with SCP participated in an exercise program with NWBB. The intervention lasted 6 weeks, 3 sessions per week, 25 minutes for each session. Ankle spasticity was assessed using the Modified Modified Ashworth Scale (MMAS), and static standing balance was quantified using posturographic measures (center-of-pressure [CoP] measures). Pre- and post-intervention measures were compared. Significant decreases of spasticity in the ankle plantar flexor muscles (p balance in young people with SCP.

  1. Severe upper extremity polyneuropathy due to inferior brachial plexus compression as a result of left subclavian artery pseudoaneurism

    Directory of Open Access Journals (Sweden)

    George Kosmadakis

    2012-01-01

    Full Text Available In the present report, we describe the case of a 76-year-old hemodialysis patient who was admitted with clinical features of neurological thoracic exit syndrome due to subclavian artery pseudoaneurism following the insertion of a dual lumen vascular internal jugular catheter (vascath with excellent outcome after endo-arterial stent placement.

  2. Severe Vaginal Burns in a 5-Year-Old Girl Due to an Alkaline Battery in the Vagina.

    Science.gov (United States)

    Semaan, Alexander; Klein, Tobias; Vahdad, Mohammad Reza; Boemers, Thomas M; Pohle, Rebecca

    2015-10-01

    The ingestion or insertion of alkaline batteries in the body can cause severe damage to hollow organs. We report here a case of severe vaginal burns in a young patient caused by an alkaline battery. A 5-year-old girl presented to our outpatient department with pelvic pain and vaginal discharge. Further workup suggested the presence of a vaginal foreign body. Under general anesthesia, an alkaline battery was removed from her vagina, which showed severe burns with partial-thickness necrosis. Complete healing was confirmed at 3 months after initial presentation. In this rare case of an alkaline battery present in the vagina of a prepubescent girl, we discuss the available treatment and management options in comparison to similar previously reported cases. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  3. Low cost continuous femoral nerve block for relief of acute severe cancer related pain due to pathological fracture femur

    Directory of Open Access Journals (Sweden)

    Rachel Cherian Koshy

    2010-01-01

    Full Text Available Pathological fractures in cancer patient cause severe pain that is difficult to control pharmacologically. Even with good pain relief at rest, breakthrough and incident pain can be unmanageable. Continuous regional nerve blocks have a definite role in controlling such intractable pain. We describe two such cases where severe pain was adequately relieved in the acute phase. Continuous femoral nerve block was used as an efficient, cheap and safe method of pain relief for two of our patients with pathological fracture femur. This method was proved to be quite efficient in decreasing the fracture-related pain and improving the level of well being.

  4. Influenza-Like Illness among University Students: Symptom Severity and Duration Due to Influenza Virus Infection Compared to Other Etiologies

    Science.gov (United States)

    Mullins, Jocelyn; Cook, Robert; Rinaldo, Charles; Yablonsky, Eric; Hess, Rachel; Piazza, Paolo

    2011-01-01

    Objective: University students with influenza-like illness (ILI) were assessed to determine whether symptom severity, duration, or missed days of school or work varied according to etiology. Participants: Sixty persons presenting to a university health clinic with ILI symptoms during 3 consecutive influenza seasons completed baseline survey and…

  5. Severe hemolytic disease of the newborn due to anti-Di b treated with phototherapy and intravenous immunoglobulin.

    Science.gov (United States)

    Oh, Eun-Jee; Jekarl, Dong Wook; Jang, Hyun-Sik; Park, Hae-Il; Park, Yeon-Joon; Choi, Hyun Ah; Chun, Chung-Sik; Kim, Yonggoo; Kim, Hyung Hoi

    2008-01-01

    The Di(b) antigen usually occurs with high incidence, except in certain Asian and South American Indian populations. In general, hemolysis caused by anti-Di(b) is not severe and its clinical course is benign. We report a Korean neonate with severe hemolytic disease of the newborn caused by anti-Di(b). The phenotype and genotype of the Diego blood group system of the patient and his mother were Di(a+b+) and Di(a+b-), respectively. The mother's serum and eluate from the neonate's erythrocytes contained anti-Di(b). This case was successfully managed with phototherapy and high dose iv immunoglobulin. Since most commercial antibody detection panels do not contain Di(b-) red cells, it is important to consider anti-Di(b) in cases of hemolytic disease of the newborn caused by an antibody against a high frequency antigen.

  6. Severe metabolic alkalosis due to baking soda ingestion: case reports of two patients with unsuspected antacid overdose.

    Science.gov (United States)

    Fitzgibbons, L J; Snoey, E R

    1999-01-01

    Oral ingestion of baking soda (sodium bicarbonate) has been used for decades as a home remedy for acid indigestion. Excessive bicarbonate ingestion places patients at risk for a variety of metabolic derangements including metabolic alkalosis, hypokalemia, hypernatremia, and even hypoxia. The clinical presentation is highly variable but can include seizures, dysrhythmias, and cardiopulmonary arrest. We present two cases of severe metabolic alkalosis in patients with unsuspected antacid overdose. The presentation and pathophysiology of antacid-related metabolic alkalosis is reviewed.

  7. Computed-tomography attenuation values of the peritoneum reflect the severity of peritonitis due to upper gastrointestinal perforations

    International Nuclear Information System (INIS)

    Tsujimoto, Hironori; Yaguchi, Yoshihisa; Hiraki, Shuichi; Kinoshita, Manabu; Yamamoto, Junji; Hase, Kazuo; Ono, Satoshi

    2011-01-01

    The aim of this study was to evaluate computed tomography (CT) attenuation values of the peritoneum and to relate these values to the severity of peritonitis in patients with upper gastrointestinal tract (UGI) perforations. A total of 27 consecutive patients with UGI perforations who underwent CT and emergency laparotomy in our hospital were enrolled in this study. The CT attenuation values of the peritoneum were measured at a workstation by 2 independent investigators, and these values were analyzed in relation to the severity of illness. There were significant negative correlations between the peritoneal CT attenuation values and the sequential organ failure assessment score, acute physiology and chronic health evaluation II score, and the Mannheim peritonitis index. There was a significant negative correlation between the peritoneal CT attenuation values and the length of stay in the intensive care unit. Furthermore, patients with dysfunctions in ≥3 organs had significantly lower peritoneal CT attenuation values than those with dysfunction in ≤2 organs. In conclusion, evaluation of peritoneal CT attenuation values in peritonitis patients is simple and can be employed for objective assessment of the severity of peritonitis. (author)

  8. MRI of autosomal dominant pure spastic paraplegia

    International Nuclear Information System (INIS)

    Krabbe, K.; Fallentin, E.; Herning, M.; Nielsen, J.E.; Fenger, K.

    1997-01-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a ''corpus-callosum index'' expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and ''corpus-callosum index'' than controls. This finding, not reported previously, might indicate that the disease process in pure HSP is not confined to the spinal cord. The anteroposterior diameters of the spinal cord at T 3 and T 9 were significantly smaller in patients than in controls. This might correspond to the degeneration of the pyramidal tracts and the dorsal columns described at neuropathological examination. (orig.). With 1 fig., 3 tabs

  9. MRI of autosomal dominant pure spastic paraplegia

    Energy Technology Data Exchange (ETDEWEB)

    Krabbe, K.; Fallentin, E.; Herning, M. [Danish Research Center of Magnetic Resonance, Hvidovre Hospital, Kettegaard alle 30, DK-2650 Hvidovre (Denmark); Nielsen, J.E.; Fenger, K. [Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, Section of Neurogenetics, University of Copenhagen (Denmark)

    1997-10-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a ``corpus-callosum index`` expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and ``corpus-callosum index`` than controls. This finding, not reported previously, might indicate that the disease process in pure HSP is not confined to the spinal cord. The anteroposterior diameters of the spinal cord at T 3 and T 9 were significantly smaller in patients than in controls. This might correspond to the degeneration of the pyramidal tracts and the dorsal columns described at neuropathological examination. (orig.). With 1 fig., 3 tabs.

  10. Advances in the management of multiple sclerosis symptoms: pathophysiology and assessment of spasticity in multiple sclerosis.

    Science.gov (United States)

    Tintoré, Mar

    2015-01-01

    Spasticity is a prevalent and troublesome symptom for people with multiple sclerosis (MS). Common instruments to measure MS spasticity include the clinician-rated (modified) Ashworth scale and the patient-rated 0-10 spasticity Numerical Rating Scale (NRS). Current opinion is that measurement of MS spasticity should incorporate the patient's perspective. Other instruments to assess spasticity-associated symptoms such as the Penn spasms frequency scale, sleep quality NRS and pain NRS can assist in tracking MS spasticity evolution and inform management choices. Worsening spasticity reduces patient autonomy, impacts negatively on quality of life and increases health resource utilization and costs. Despite the wide range of issues associated with MS spasticity, undertreatment is common and standard treatment options (physiotherapy and classical oral therapies) often fail to provide adequate symptomatic control.

  11. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

    Science.gov (United States)

    Ronchetti, Anna; Prati, Daniele; Pezzotta, Maria Grazia; Tavian, Daniela; Colombo, Roberto; Callea, Francesco; Colli, Agostino

    2008-09-01

    Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.

  12. Chest computed tomography of a patient revealing severe hypoxia due to amniotic fluid embolism: a case report

    Directory of Open Access Journals (Sweden)

    Inui Daisuke

    2010-02-01

    Full Text Available Abstract Introduction Amniotic fluid embolism is one of the most severe complications in the peripartum period. Because its onset is abrupt and fulminant, it is unlikely that there will be time to examine the condition using thoracic computed tomography (CT. We report a case of life-threatening amniotic fluid embolism, where chest CT in the acute phase was obtained. Case presentation A 22-year-old Asian Japanese primiparous woman was suspected of having an amniotic fluid embolism. After a Cesarean section for cephalopelvic disproportion, her respiratory condition deteriorated. Her chest CT images were examined. CT findings revealed diffuse homogeneous ground-glass shadow in her bilateral peripheral lung fields. She was therefore transferred to our hospital. On admission to our hospital's intensive care unit, she was found to have severe hypoxemia, with SpO2 of 50% with a reservoir mask of 15 L/min oxygen. She was intubated with the support of noninvasive positive pressure ventilation. She was successfully extubated on the sixth day, and discharged from the hospital on the twentieth day. Conclusion This is the first case report describing amniotic fluid embolism in which CT revealed an acute respiratory distress syndrome-like shadow.

  13. Balneotherapy in treatment of spastic upper limb after stroke.

    Science.gov (United States)

    Erceg-Rukavina, Tatjana; Stefanovski, Mihajlo

    2015-02-01

    After stroke, spasticity is often the main problem that prevents functional recovery. Pain occurs in up to 70% of patients during the first year post-stroke. A total of 70 patients (30 female and 45 male) mean age (65.67) participated in prospective, controlled study. ischaemic stroke, developed spasticity of upper limb, post-stroke interval balneotherapy and inability to follow commands. Experimental group (Ex) (n=35) was treated with sulphurous baths (31°-33°C) and controlled group (Co) with taped water baths, during 21 days. All patients were additionally treated with kinesitherapy and cryotherapy. The outcome was evaluated using Modified Ashworth scale for spasticity and VAS scale for pain. The significance value was sat at pbalneotherapy with sulphurous bath on spasticity and pain in affected upper limb. Reduction in tone of affected upper limb muscles was significant in Ex group (pbalneotherapy with sulphurous water reduces spasticity and pain significantly and can help in treatment of post-stroke patients.

  14. Can growth hormone treatment improve growth in children with severe growth failure due to anorexia nervosa? A preliminary pilot study

    Directory of Open Access Journals (Sweden)

    Juliane Léger

    2017-11-01

    Full Text Available Background/Aims: Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN. The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV in children with AN. Methods: We carried out a retrospective observational study. Ten girls diagnosed with AN at 10.0 ± 1.9 years, with prolonged severe growth failure (HV < 2.5 cm/year for at least 18 months at the age of 13.3 ± 1.1 years and delayed puberty after nutritional rehabilitation, were treated with hGH (0.040 mg/kg/day from a bone age of 10.9 ± 1.7 years until they reached adult height. Height and HV were measured before treatment and at 12-month intervals during treatment. Results: Mean body mass index SDS remained unchanged, but HV increased significantly, from a median of 1.0 (0.7–2.1 to 7.1 (6.0–9.5 cm/year after one year (P < 0.002 and 5.6 (4.8–6.2 cm/year after two years of treatment. Height SDS increased from −2.2 ± 1.3 to −1.6 ± 1.3 after one year (P < 0.002 and −1.1 ± 1.5 after two years of GH treatment. Adult height (−0.1 ± 1.0 SDS was close to target height after 3.6 ± 1.4 years of GH treatment. Serum IGF-I levels increased significantly during treatment (P < 0.01. The treatment was well tolerated. Conclusions: This proof-of-concept study shows that hGH treatment is associated with significant improvements in linear growth in adolescents with AN and severe growth failure. A randomized placebo-controlled trial is required to determine the ultimate impact of GH treatment in patients with this severe, rare condition.

  15. Decreased contribution from afferent feedback to the soleus muscle during walking in patients with spastic stroke

    DEFF Research Database (Denmark)

    Mazzaro, Nazarena; Nielsen, Jørgen Feldbæk; Grey, Michael James

    2007-01-01

    We investigated the contribution of afferent feedback to the soleus (SOL) muscle activity during the stance phase of walking in patients with spastic stroke. A total of 24 patients with hemiparetic spastic stroke and age-matched healthy volunteers participated in the study. A robotic actuator...... by the Ashworth score. These results indicate that although the stretch reflex response is facilitated during spastic gait, the contribution of afferent feedback to the ongoing locomotor SOL activity is depressed in patients with spastic stroke....

  16. Severe gastrointestinal tract bleeding in a two-month-old infant due to congenital intrahepatic arterioportal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Aarts, R. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Ijland, M.M. [Department of Pediatrics, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Blaauw, I. de [Department of Pediatric Surgery, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Hoogeveen, Y. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Boetes, C. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands)]. E-mail: C.Boetes@rad.umcn.nl; van Proosdij, M. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands)

    2006-07-15

    A 2-month-old boy was referred for assessment of severe upper gastrointestinal tract bleeding and melena. On physical examination, a continuous murmur was heard over the right upper quadrant of the abdomen. A splenomegaly and dilated veins were also noted on the abdominal wall. Liver functions were normal. There was no history of trauma or jaundice. Doppler ultrasonography, magnetic resonance arteriography and angiography suggested the presence of an intrahepatic arteriovenous fistula between the phrenic artery and the portal vein. Management consisted of successful embolization by coiling of the phrenic artery. To our knowledge this is the first documented case report of a congenital fistula between the phrenic artery and the portal vein.

  17. Severe gastrointestinal tract bleeding in a two-month-old infant due to congenital intrahepatic arterioportal fistula

    International Nuclear Information System (INIS)

    Aarts, R.; Ijland, M.M.; Blaauw, I. de; Hoogeveen, Y.; Boetes, C.; van Proosdij, M.

    2006-01-01

    A 2-month-old boy was referred for assessment of severe upper gastrointestinal tract bleeding and melena. On physical examination, a continuous murmur was heard over the right upper quadrant of the abdomen. A splenomegaly and dilated veins were also noted on the abdominal wall. Liver functions were normal. There was no history of trauma or jaundice. Doppler ultrasonography, magnetic resonance arteriography and angiography suggested the presence of an intrahepatic arteriovenous fistula between the phrenic artery and the portal vein. Management consisted of successful embolization by coiling of the phrenic artery. To our knowledge this is the first documented case report of a congenital fistula between the phrenic artery and the portal vein

  18. Small-for-Gestational-Age Births in Pregnant Women with HIV, due to Severity of HIV Disease, Not Antiretroviral Therapy

    Directory of Open Access Journals (Sweden)

    Erika Aaron

    2012-01-01

    Full Text Available Objectives. To determine rate and factors associated with small-for-gestational-age (SGA births to women with HIV. Methods. Prospective data were collected from 183 pregnant women with HIV in an urban HIV prenatal clinic, 2000–2011. An SGA birth was defined as less than the 10th or 3rd percentile of birth weight distribution based upon cut points developed using national vital record data. Bivariate analysis utilized chi-squared and t-tests, and multiple logistic regression analyses were used. Results. The prevalence of SGA was 31.2% at the 10th and 12.6% at the 3rd percentile. SGA at the 10th (OR 2.77; 95% CI, 1.28–5.97 and 3rd (OR 3.64; 95% CI, 1.12–11.76 percentiles was associated with cigarette smoking. Women with CD4 count >200 cells/mm3 at the first prenatal visit were less likely to have an SGA birth at the 3rd percentile (OR 0.29; 95% CI, 0.10–0.86. Women taking NNRTI were less likely to have an SGA infant at the 10th (OR 0.28; 95% CI, 0.10–0.75 and 3rd (OR 0.16; 95% CI, 0.03–0.91 percentiles compared to those women on PIs. Conclusions. In this cohort with high rates of SGA, severity of HIV disease, not ART, was associated with SGA births after adjusting for sociodemographic, medication, and disease severity.

  19. Splenic Arterial Embolization in the Treatment of Severe Portal Hypertension Due to Pancreatic Diseases: The Primary Experience in 14 Patients

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Qi, E-mail: wqtjmu@gmail.com; Xiong, Bin, E-mail: herrxiong@126.com; Zheng, ChuanSheng, E-mail: hqzcsxh@sina.com; Liang, Ming, E-mail: whliangming@163.com; Han, Ping, E-mail: cjr.hanping@vip.163.com [Huazhong University of Science and Technology, Department of Radiology, Union Hospital, Tongji Medical College (China)

    2016-03-15

    ObjectiveThis retrospective study reports our experience using splenic arterial particle embolization and coil embolization for the treatment of sinistral portal hypertension (SPH) in patients with and without gastric bleeding.MethodsFrom August 2009 to May 2012, 14 patients with SPH due to pancreatic disease were diagnosed and treated with splenic arterial embolization. Two different embolization strategies were applied; either combined distal splenic bed particle embolization and proximal splenic artery coil embolization in the same procedure for acute hemorrhage (1-step) or interval staged distal embolization and proximal embolization in the stable patient (2-step). The patients were clinically followed.ResultsIn 14 patients, splenic arterial embolization was successful. The one-step method was performed in three patients suffering from massive gastric bleeding, and the bleeding was relieved after embolization. The two-step method was used in 11 patients, who had chronic gastric variceal bleeding or gastric varices only. The gastric varices disappeared in the enhanced CT scan and the patients had no gastric bleeding during follow-up.ConclusionsSplenic arterial embolization, particularly the two-step method, proved feasible and effective for the treatment of SPH patients with gastric varices or gastric variceal bleeding.

  20. Characterization of Spasticity in Cerebral Palsy: Dependence of Catch Angle on Velocity

    Science.gov (United States)

    Wu, Yi-Ning; Ren, Yupeng; Goldsmith, Ashlee; Gaebler, Deborah; Liu, Shu Q.; Zhang, Li-Qun

    2010-01-01

    Aim: To evaluate spasticity under controlled velocities and torques in children with cerebral palsy (CP) using a manual spasticity evaluator. Method: The study involved 10 children with spastic CP (six males, four females; mean age 10y 1mo, SD 2y 9mo, range 7-16y; one with quadriplegia, six with right hemiplegia, three with left hemiplegia; Gross…

  1. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

    Directory of Open Access Journals (Sweden)

    I.A. Meijer

    2015-12-01

    Full Text Available Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC (p.Leu461SerfsX47, and complete uniparental isodisomy of maternal chromosome 2. This mutation is predicted to cause complete lipin-1 deficiency. The patient had six rhabdomyolytic crises, with creatine kinase (CK levels up to 300,000 U/L (normal, 30 to 200. Plasma CK remained elevated between crises. A treatment protocol was instituted, with early aggressive monitoring, hydration, electrolyte replacement and high caloric, high carbohydrate intake. The patient received dexamethasone during two crises, which was well-tolerated and in these episodes, peak CK values were lower than in preceding episodes. Studies of anti-inflammatory therapy may be indicated in lipin-1 deficiency.

  2. A Simple Method for Estimating the Economic Cost of Productivity Loss Due to Blindness and Moderate to Severe Visual Impairment.

    Science.gov (United States)

    Eckert, Kristen A; Carter, Marissa J; Lansingh, Van C; Wilson, David A; Furtado, João M; Frick, Kevin D; Resnikoff, Serge

    2015-01-01

    To estimate the annual loss of productivity from blindness and moderate to severe visual impairment (MSVI) using simple models (analogous to how a rapid assessment model relates to a comprehensive model) based on minimum wage (MW) and gross national income (GNI) per capita (US$, 2011). Cost of blindness (COB) was calculated for the age group ≥50 years in nine sample countries by assuming the loss of current MW and loss of GNI per capita. It was assumed that all individuals work until 65 years old and that half of visual impairment prevalent in the ≥50 years age group is prevalent in the 50-64 years age group. For cost of MSVI (COMSVI), individual wage and GNI loss of 30% was assumed. Results were compared with the values of the uncorrected refractive error (URE) model of productivity loss. COB (MW method) ranged from $0.1 billion in Honduras to $2.5 billion in the United States, and COMSVI ranged from $0.1 billion in Honduras to $5.3 billion in the US. COB (GNI method) ranged from $0.1 million in Honduras to $7.8 billion in the US, and COMSVI ranged from $0.1 billion in Honduras to $16.5 billion in the US. Most GNI method values were near equivalent to those of the URE model. Although most people with blindness and MSVI live in developing countries, the highest productivity losses are in high income countries. The global economy could improve if eye care were made more accessible and more affordable to all.

  3. Clinical features and management of hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Ingrid Faber

    2014-03-01

    Full Text Available Hereditary spastic paraplegia (HSP is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

  4. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    DEFF Research Database (Denmark)

    Svenstrup, K; Møller, R S; Christensen, J

    2011-01-01

    or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Methods: Fifty-two patients with HSP were screened for mutations in NIPA1. Results: One previously...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...

  5. Technologically-advanced assessment of upper-limb spasticity

    DEFF Research Database (Denmark)

    Posteraro, Federico; Crea, Simona; Mazzoleni, Stefano

    2018-01-01

    post stroke patients. METHODS: A new robotic device able to automatically assess upper-limb spasticity during passive and active mobilization has been developed. The elbow spasticity of five post stroke patients has been assessed by using the new device and by means of the Modified Ashworth Scale (MAS......). After the first assessment, subjects were treated with botulin toxin injections, and then underwent 10 sessions of robotic treatments. After the treatment, subjects spasticity was assessed by using the robotic device and the MAS score. RESULTS: In four out of five patients, the botulin toxin injection...... and robotic treatment resulted in the improvement of the MAS score; in three patients the robotic measures were able to detect the MAS changes. In one subject botulin toxin was not effective and the robotic device was able to detect the lack of effectiveness. CONCLUSIONS: By using the robotic device some...

  6. Outcome of medial hamstring lengthening in children with spastic paresis: A biomechanical and morphological observational study.

    Science.gov (United States)

    Haberfehlner, Helga; Jaspers, Richard T; Rutz, Erich; Harlaar, Jaap; van der Sluijs, Johannes A; Witbreuk, Melinda M; van Hutten, Kim; Romkes, Jacqueline; Freslier, Marie; Brunner, Reinald; Becher, Jules G; Maas, Huub; Buizer, Annemieke I

    2018-01-01

    To improve gait in children with spastic paresis due to cerebral palsy or hereditary spastic paresis, the semitendinosus muscle is frequently lengthened amongst other medial hamstring muscles by orthopaedic surgery. Side effects on gait due to weakening of the hamstring muscles and overcorrections have been reported. How these side effects relate to semitendinosus morphology is unknown. This study assessed the effects of bilateral medial hamstring lengthening as part of single-event multilevel surgery (SEMLS) on (1) knee joint mechanics (2) semitendinosus muscle morphology and (3) gait kinematics. All variables were assessed for the right side only. Six children with spastic paresis selected for surgery to counteract limited knee range of motion were measured before and about a year after surgery. After surgery, in most subjects popliteal angle decreased and knee moment-angle curves were shifted towards a more extended knee joint, semitendinosus muscle belly length was approximately 30% decreased, while at all assessed knee angles tendon length was increased by about 80%. In the majority of children muscle volume of the semitendinosus muscle decreased substantially suggesting a reduction of physiological cross-sectional area. Gait kinematics showed more knee extension during stance (mean change ± standard deviation: 34±13°), but also increased pelvic anterior tilt (mean change ± standard deviation: 23±5°). In most subjects, surgical lengthening of semitendinosus tendon contributed to more extended knee joint angle during static measurements as well as during gait, whereas extensibility of semitendinosus muscle belly was decreased. Post-surgical treatment to maintain muscle belly length and physiological cross-sectional area may improve treatment outcome of medial hamstring lengthening.

  7. Correlations between risk factors and functional evolution in patients with spastic quadriplegia.

    Science.gov (United States)

    Rogoveanu, O C; Tuțescu, N C; Kamal, D; Alexandru, D O; Kamal, C; Streba, L; Trăistaru, M R

    2016-01-01

    Cerebral palsy is the most common cause of developing neuro-motor disability in children, in many cases, the triggering cause remaining unknown. Quadriplegia is the most severe spastic cerebral palsy, characterized by severe mental retardation and bi-pyramidal syndrome. The purpose of this paper was to demonstrate the importance of knowing the risk factors and the psychosomatic ones, determining to what extent they influence the functional evolution in patients diagnosed with spastic quadriplegia. 23 children diagnosed with spastic quadriplegia were included in the study, being aged between 1 year and half and 12 years. Patients were assessed at baseline (T1), at one year (T2) and after two years at the end of the study (T3). Patients received a comprehensive rehabilitation program for the motor and sensory deficits throughout the study. Initially, a comprehensive evaluation (etiopathogenic, clinical and functional) that started from a thorough medical history of children (the older ones), was conducted but chose parents to identify the risk factors, and a complete physical exam. At each assessment, joint and muscle balance was conducted. To assess functionality, the gross motor function classification systems (GMFCS) and manual ability (MACS) were used. Many risk factors that were classified according to the timeline in prenatal factors, perinatal and postnatal, were identified from a thorough history. A direct correlation was noticed between the decrease of coarse functionality and manual ability, both initially and in dynamic and low APGAR scores, low gestational age, low birth weight and a higher body mass index of the mother. A direct link was observed between the gross motor function and the manual ability. A significant improvement in the MACS score was noticed in patients with a better GMFCS score.

  8. Hereditary spastic paraplegias: membrane traffic and the motor pathway.

    Science.gov (United States)

    Blackstone, Craig; O'Kane, Cahir J; Reid, Evan

    2011-01-01

    Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes — especially membrane trafficking and organelle morphogenesis and distribution— in axonal maintenance and degeneration.

  9. Tilt table standing for reducing spasticity after spinal cord injury.

    Science.gov (United States)

    Bohannon, R W

    1993-10-01

    A patient with a T12 spinal cord injury and intractable extensor spasms of the lower extremities participated in tilt table standing trial on 5 nonconsecutive days to determine if the intervention would affect his spasticity and spasms. Each day's standing trial was followed by an immediate reduction in lower extremity spasticity (measured using the modified Ashworth scale and pendulum testing). Standing was also accompanied by a reduction in spasms that lasted until the following morning. The reduction of spasms was particularly advantageous to the performance of car transfers. Tilt table standing merits further examination as a physical treatment of spasms that accompany central nervous system lesions.

  10. Converging cellular themes for the hereditary spastic paraplegias.

    Science.gov (United States)

    Blackstone, Craig

    2018-05-10

    Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. They are among the most genetically-diverse neurologic disorders, with >80 distinct genetic loci and over 60 identified genes. Studies investigating the molecular pathogenesis underlying HSPs have emphasized the importance of converging cellular pathogenic themes in the most common forms of HSP, providing compelling targets for therapy. Most notably, these include organelle shaping and biogenesis as well as membrane and cargo trafficking. Published by Elsevier Ltd.

  11. Global gene expression analysis of rodent motor neurons following spinal cord injury associates molecular mechanisms with development of post-injury spasticity

    DEFF Research Database (Denmark)

    Wienecke, Jacob; Westerdahl, Ann-Charlotte; Hultborn, Hans

    2010-01-01

    Spinal cord injury leads to severe problems involving impaired motor, sensory and autonomic functions. After spinal injury there is an initial phase of hypo-reflexia followed by hyper-reflexia, often referred to as spasticity. Previous studies have suggested a relationship between the reappearanc...

  12. [Microsurgical drezotomy for the treatment of spasticity of the lower limbs].

    Science.gov (United States)

    Mertens, P; Sindou, M

    1998-09-01

    Ablative functional neurosurgery can be useful in some selected patients for the treatment of harmful spasticity in the lower limbs. Microsurgical drezotomy was introduced in 1972, on the basis of anatomical studies of the human dorsal root entry zone (DREZ) showing a topographical segregation of the afferent fibers according to their size and thus functional destinations. It consists of a 3 mm deep microsurgical lesion directed at a 45 degree angle in the postero-lateral sulcus, penetrating the DREZ in its ventro-lateral aspect, at the level of all the rootlets considered as involved in spasticity (and pain). It destroys mainly the lateral (nociceptive) and central (myotatic) afferent fibers as well as the facilitatory medial part of the Lissauer tract, whilst sparing most of the medial (lemniscal) fibers and the inhibitor lateral part of the Lissauer tract. We report a series of 121 bedridden patients suffering from harmful spasticity in one (15) or both (106) lower limbs and treated with microsurgical drezotomy. Surgery was decided on because of abnormal postures in flexion in two-thirds of the patients and in hyperextension in one-third, additional pain in 75 of them, and hyperactive bladder in 38 cases. The post-operative results were evaluated after a mean follow-up time of 5 years and 6 months. Both spasticity and spasms were significantly decreased or suppressed respectively in 78% and 88% of the patients. When present, pain was relieved without abolition of sensation in 82%. These benefits resulted in either disappearance or marked reduction of the abnormal postures and articular limitation in 90% of the patients. When present preoperatively, urinary leakage disappeared in 85% of the cases. Mild to severe complications occurred in 32 patients and precipitated or were responsible for death in 6 cases (5%). This is explained by the fact that most of the patients, especially those affected by multiple sclerosis, were in very precarious general and

  13. Novel application of a Wii remote to measure spasticity with the pendulum test: Proof of concept.

    Science.gov (United States)

    Yeh, Chien-Hung; Hung, Chi-Yao; Wang, Yung-Hung; Hsu, Wei-Tai; Chang, Yi-Chung; Yeh, Jia-Rong; Lee, Po-Lei; Hu, Kun; Kang, Jiunn-Horng; Lo, Men-Tzung

    2016-01-01

    The pendulum test is a standard clinical test for quantifying the severity of spasticity. In the test, an electrogoniometer is typically used to measure the knee angular motion. The device is costly and difficult to set up such that the pendulum test is normally time consuming. The goal of this study is to determine whether a Nintendo Wii remote can replace the electrogroniometer for reliable assessment of the angular motion of the knee in the pendulum test. The pendulum test was performed in three control participants and 13 hemiplegic stroke patients using both a Wii remote and an electrogoniometer. The correlation coefficient and the Bland-Altman difference plot were used to compare the results obtained from the two devices. The Wilcoxon signed-rank test was used to compare the difference between hemiplegia-affected and nonaffected sides in the hemiplegic stroke patients. There was a fair to strong correlation between measurements from the Wii remote and the electrogoniometer (0.513spastic) side from the nonaffected (nonspastic) side (both with p<.0001*). In addition, the intraclass correlation coefficient, standard error of measurement, and minimum detectable differences were highly consistent for both devices. Our findings suggest that the Wii remote may serve as a convenient and cost-efficient tool for the assessment of spasticity. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Fitzsimmons Syndrome: Spastic Paraplegia, Brachydactyly, and Cognitive Impairment

    NARCIS (Netherlands)

    Armour, Christine M.; Humphreys, Peter; Hennekam, Raoul C. M.; Boycott, Kym M.

    2009-01-01

    Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old

  15. Neuropathic pain and spasticity: intricate consequences of spinal cord injury

    DEFF Research Database (Denmark)

    Finnerup, Nanna Brix

    2017-01-01

    of SCI, and a careful examination and characterization of the symptoms and signs, are a prerequisite for understanding the relationship between neuropathic pain and spasticity and the intricate underlying mechanisms.Spinal Cord advance online publication, 11 July 2017; doi:10.1038/sc.2017.70....

  16. Altered sense of agency in children with spastic cerebral palsy

    DEFF Research Database (Denmark)

    Ritterband-Rosenbaum, Anina; Christensen, Mark S; Kliim-Due, Mette

    2011-01-01

    ABSTRACT: Background Children diagnosed with spastic Cerebral Palsy (CP) often show perceptual and cognitive problems, which may contribute to their functional deficit. Here we investigated if altered ability to determine whether an observed movement is performed by themselves (sense of agency...

  17. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS: T...

  18. Surgical management of spasticity | Enslin | South African Medical ...

    African Journals Online (AJOL)

    The management of patients with cerebral palsy and other causes of spasticity is a challenge to an entire rehabilitation team and to caregivers. In South Africa, neurosurgeons have had limited involvement in this field owing to a perceived lack of options, leaving the care of these patients largely in the hands of paediatric ...

  19. Spastic pelvic floor syndrome: Definition in double-exposure defaecography

    International Nuclear Information System (INIS)

    Helzel, M.V.

    1989-01-01

    Double-exposure defaecography and the so-called pinching test improve conventional defaecography in the diagnosis of functional rectal outlet disorders. In particular, the pinching test makes quantitative evaluation of the m. puborectalis possible. 'Spastic pelvic floor syndrome' is defined by quantitative parameters in double-exposure defaecography and the pinching test. (orig.) [de

  20. A retrospective neurocognitive study in children with spastic diplegia

    NARCIS (Netherlands)

    Pirila, S; van der Meere, J; Korhonen, P; Ruusu-Niemi, P; Kyntaja, M; Nieminen, P; Korpela, R

    2004-01-01

    The study presents the results on neonatal cranial ultrasonography (US) and later intelligence (Wechsler Intelligence Scale-Third Edition and Wechsler Preschool and Primary Scale of Intelligence-Revised) and Neuropsychological assessments of 15 children with spastic diplegia. The assessments were

  1. Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

    Science.gov (United States)

    de Bot, Susanne T; Burggraaff, Rogier C; Herkert, Johanna C; Schelhaas, Helenius J; Post, Bart; Diekstra, Adinda; van Vliet, Reinout O; van der Knaap, Marjo S; Kamsteeg, Erik-Jan; Scheffer, Hans; van de Warrenburg, Bart P; Verschuuren-Bemelmans, Corien C; Kremer, Hubertus PH

    2013-01-01

    Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations, four of which are novel, in nine index patients. Eighteen SPG11 patients from these nine families were studied by means of a retrospective chart analysis and additional interview/examination. Ages at onset were between 4 months and 14 years; 39% started with learning difficulties rather than gait impairment. Brain magnetic resonance imaging showed a thin corpus callosum and typical periventricular white matter changes in the frontal horn region (known as the ‘ears-of the lynx'-sign) in all. Most patients became wheelchair bound after a disease duration of 1 to 2 decades. End-stage disease consisted of loss of spontaneous speech, severe dysphagia, spastic tetraplegia with peripheral nerve involvement and contractures. Several patients died of complications between ages 30 and 48 years, 3–4 decades after onset of gait impairment. Other relevant features during the disease were urinary and fecal incontinence, obesity and psychosis. Our study of 18 Dutch SPG11-patients shows the potential serious long-term consequences of SPG11 including a possibly restricted life span. PMID:23443022

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

    Energy Technology Data Exchange (ETDEWEB)

    Dube, M.P.; Kibar, Z.; Rouleau, G.A. [McGill Univ., Quebec (Canada)] [and others

    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.

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

    Science.gov (United States)

    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.

  4. Classification of upper limb disability levels of children with spastic unilateral cerebral palsy using K-means algorithm.

    Science.gov (United States)

    Raouafi, Sana; Achiche, Sofiane; Begon, Mickael; Sarcher, Aurélie; Raison, Maxime

    2018-01-01

    Treatment for cerebral palsy depends upon the severity of the child's condition and requires knowledge about upper limb disability. The aim of this study was to develop a systematic quantitative classification method of the upper limb disability levels for children with spastic unilateral cerebral palsy based on upper limb movements and muscle activation. Thirteen children with spastic unilateral cerebral palsy and six typically developing children participated in this study. Patients were matched on age and manual ability classification system levels I to III. Twenty-three kinematic and electromyographic variables were collected from two tasks. Discriminative analysis and K-means clustering algorithm were applied using 23 kinematic and EMG variables of each participant. Among the 23 kinematic and electromyographic variables, only two variables containing the most relevant information for the prediction of the four levels of severity of spastic unilateral cerebral palsy, which are fixed by manual ability classification system, were identified by discriminant analysis: (1) the Falconer index (CAI E ) which represents the ratio of biceps to triceps brachii activity during extension and (2) the maximal angle extension (θ Extension,max ). A good correlation (Kendall Rank correlation coefficient = -0.53, p = 0.01) was found between levels fixed by manual ability classification system and the obtained classes. These findings suggest that the cost and effort needed to assess and characterize the disability level of a child can be further reduced.

  5. TREATMENT OF THE SPASTICITY IN CHILDREN WITH CEREBRAL PALSY

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    Meholjić-Fetahović, Ajša

    2007-01-01

    Botulinum toxin is a natural purified protein and one of the strongest biological poisons - neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine. As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy - spasticity Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles. It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects. This work shows a case of a boy with spastic form of cerebral palsy. After being habilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs’ muscles and kinezitherapy intensified

  6. Treatment of the Spasticity in Children with Cerebral Palsy

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    Ajša Meholjić-Fetahović

    2008-11-01

    Full Text Available Botulinum toxin is a natural purified protein and one of the strongest biological poisons - neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine.As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy - spasticity Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles.It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects.This work shows a case of a boy with spastic form of cerebral palsy. After being habilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs’ muscles and

  7. Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

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    Elichilia R. Shao

    2017-01-01

    Full Text Available Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS. We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

  8. Severe Hypothyroidism due to the Loss of Therapeutic Efficacy of l-Thyroxine in a Patient with Esophageal Complication Associated with Systemic Sclerosis.

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    Lobasso, Antonio; Nappi, Liliana; Barbieri, Letizia; Peirce, Carmela; Ippolito, Serena; Arpaia, Debora; Rossi, Francesca Wanda; de Paulis, Amato; Biondi, Bernadette

    2017-01-01

    Thyroid function abnormalities and thyroid autoantibodies have been frequently described in patients with systemic autoimmune diseases as systemic sclerosis (SSc). Serum TSH levels are higher in SSc patients with more severe skin diseases and a worse modified Rodnan skin score. Asymptomatic esophageal involvement due to SSc has never been described as a cause of severe hypothyroidism due to l-thyroxine (l-T4) malabsorption in patients with Hashimoto's thyroiditis (HT) and SSc. Here, we report a case of a 56-year-old female affected by both SSc and HT who developed severe hypothyroidism due to the loss of therapeutic efficacy of l-T4. Therapeutic failure resulted from the altered l-T4 absorption because of SSc esophageal complications. Clinical findings improved after the administration of oral liquid l-T4. Thyroid function completely normalized with a full clinical recovery, the disappearance of the pericardial effusion and the improvement of the pulmonary pressure. A recognition of a poor absorption is crucial in patients with hypothyroidism and SSc to reduce the risk of the subsequent adverse events. This case suggests the importance of clinical and laboratory surveillance in patients with SSc and HT because the systemic complications of these dysfunctions may worsen the prognosis of hypothyroid SSc/HT patients.

  9. Severe Hypothyroidism due to the Loss of Therapeutic Efficacy of l-Thyroxine in a Patient with Esophageal Complication Associated with Systemic Sclerosis

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    Antonio Lobasso

    2017-09-01

    Full Text Available BackgroundThyroid function abnormalities and thyroid autoantibodies have been frequently described in patients with systemic autoimmune diseases as systemic sclerosis (SSc. Serum TSH levels are higher in SSc patients with more severe skin diseases and a worse modified Rodnan skin score. Asymptomatic esophageal involvement due to SSc has never been described as a cause of severe hypothyroidism due to l-thyroxine (l-T4 malabsorption in patients with Hashimoto’s thyroiditis (HT and SSc.Case reportHere, we report a case of a 56-year-old female affected by both SSc and HT who developed severe hypothyroidism due to the loss of therapeutic efficacy of l-T4. Therapeutic failure resulted from the altered l-T4 absorption because of SSc esophageal complications. Clinical findings improved after the administration of oral liquid l-T4. Thyroid function completely normalized with a full clinical recovery, the disappearance of the pericardial effusion and the improvement of the pulmonary pressure.ConclusionA recognition of a poor absorption is crucial in patients with hypothyroidism and SSc to reduce the risk of the subsequent adverse events. This case suggests the importance of clinical and laboratory surveillance in patients with SSc and HT because the systemic complications of these dysfunctions may worsen the prognosis of hypothyroid SSc/HT patients.

  10. Percutaneous vertebroplasty performed with an 18 G needle for the treatment of severe compression fracture of cervical vertebral body due to malignancy

    International Nuclear Information System (INIS)

    Chen Long; Ni Caifang; Wang Zhentang; Liu Yizhi; Jin Yonghai; Zhu Xiaoli; Zou Jianwei; Xiao Xiangsheng

    2010-01-01

    Objective: To investigate the clinical feasibility and efficacy of percutaneous vertebroplasty performed with an 18G needle for the treatment of severe compression fracture of cervical vertebral body due to malignancy. Methods: During the period of 2006-2010 percutaneous vertebroplasty was performed in 10 patients with severe compression fracture of cervical vertebral body due to metastatic lesions. A total of 12 diseased vertebral bodies were detected, which distributed in the C 4 (n = 3), C 5 (n = 3), C 6 (n = 4) and C 7 (n = 2) vertebral bodies. Under DSA guidance an 18G needle was punctured into the target vertebral body and then polymethylmethacrylate bone cement was injected in. A follow-up lasting for one month was conducted. Results: The technical success of both needle puncturing and bone cement injection was achieved in all patients. The mean amount of bone cement injected in each diseased vertebra was 2.2 ml(1.5-3.2)ml. Marked pain relief was quickly obtained in al1 10 patients. No major complications occurred in this series, except for asymptomatic bone cement leaking around vertebra which appeared in 4 vertebral bodies. Conclusion: Percutaneous vertebroplasty, which is performed with an 18G needle, is a safe and effective technique for the treatment of severe compression fracture of cervical vertebral body due to malignancy. (authors)

  11. Posture Influence on the Pendulum Test of Spasticity in Patients with Spinal Cord Injury.

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    de Azevedo, Eliza Regina Ferreira Braga Machado; Maria, Renata Manzano; Alonso, Karina Cristina; Cliquet, Alberto

    2015-12-01

    The study aims to investigate the influence of different postures on spasticity results by pendulum test in patients with spinal cord injury (SCI). The setting was at the University of Campinas (UNICAMP), Campinas, SP, Brazil. Five individuals with SCI and five individuals in the control group were included. All individuals went through the pendulum test in three different positions: supine, semi-supine at an angle of 30°, and sitting up at an angle of 60°. An electrogoniometer was attached to the right leg for measurement of knee joint angles. All situations were performed five times. Blood pressure was monitored during tests. Relaxation index (RI), normalized relaxation index (RIn), test duration in seconds, initial flexion angle, and resting angle were analyzed at three different positions. Results were compared between different positions, and statistically no differences were found. In individuals with SCI, RI (1.83 ± 0.2), RIn (1.14 ± 0.13), and test duration values (13.95 ± 4.14), in sitting up position, were similar to the control group results. In sitting up position, patients showed spasticity reduction. However, the other two postures produce pain and increase blood pressure in patients with tetraplegia. Therefore, these postures should be avoided in patients with lesions above T6, due to possible autonomic dysreflexia symptoms. Copyright © 2015 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

  12. Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

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    Dreha-Kulaczewski, Steffi; Dechent, Peter; Helms, Gunther; Frahm, Jens; Gaertner, Jutta; Brockmann, Knut

    2006-01-01

    Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations. To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI). While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation - histopathological changes known to occur in HSP-TCC. Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking. (orig.)

  13. Robot-Assisted Rehabilitation of Ankle Plantar Flexors Spasticity: A Three-Month Study with Proprioceptive Neuromuscular Facilitation

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    Zhihao Zhou

    2016-11-01

    Full Text Available In this paper, we aim to investigate the effect of Proprioceptive Neuromuscular Facilitation (PNF based rehabilitation for ankle plantar flexors spasticity by using a Robotic Ankle-foot Rehabilitation System (RARS. A modified robot-assisted system was proposed and seven post-stroke patients with hemiplegic spastic ankles participated a three-month of robotic PNF training. Their impaired sides were used as the experimental group while their unimpaired sides as the control group. A robotic intervention for the experimental group generally started from a two minutes passive stretching to warm-up or relax the soleus and gastrocnemius muscle and also ended with the same one. Then a PNF training session included 30 trails was activated between them. The rehabilitation trainings were carried out three times a week as an addition of their regular rehabilitation exercise. Passive ankle joint range of motion, resistance torque and stiffness were measured in both ankles before and after the intervention. The changes in Achilles' tendon length, walking speed, and lower limb function were also evaluated by the same physician or physiotherapist for each participant. Biomechanical measurements before interventions showed significant difference between the experimental group and the control group due to ankle spasticity. For the control group, there was no significant difference in the three months with no robotic intervention. But for the experimental group, passive dorsiflexion range of motion increased ( p0.05 . The robotic rehabilitation also improved the muscle strength ( p0.05 and fast walking speed ( p<0.05 . These results indicated that PNF based robotic intervention could significantly alleviate lower limb spasticity and improve the motor function in chronic stroke participant. The robotic system could potentially be used as an effective tool in post-stroke rehabilitation training.

  14. Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

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    Wiethoff Sarah

    2012-11-01

    Full Text Available Abstract Background Reduction of retinal nerve fibre layer (RNFL thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including Alzheimer′s disease (AD, idiopathic Parkinson’s disease (PD, spinocerebellar ataxia (SCA and multiple system atrophy (MSA. To further clarify the specificity of RNFL thinning as a potential marker of neurodegenerative diseases we investigated RNFL thickness in Hereditary Spastic Paraplegia (HSP, an axonal, length-dependent neurodegenerative pathology of the upper motor neurons. Methods Spectral domain optical coherence tomography (OCT was performed in 28 HSP patients (clinically: pure HSP = 22, complicated HSP = 6; genetic subtypes: SPG4 = 13, SPG5 = 1, SPG7 = 3, genetically unclassified: 11 to quantify peripapillary RNFL thickness. Standardized examination assessed duration of disease, dependency on assistive walking aids and severity of symptoms quantified with Spastic Paraplegia Rating Scale (SPRS. Results HSP patients demonstrated no significant thinning of global RNFL (pglobal = 0.61. Subgroup analysis revealed significant reduction in temporal and temporal inferior sectors for patients with complex (p Conclusion Clinically pure HSP patients feature no significant reduction in RNFL, whereas complex phenotypes display an abnormal thinning of temporal and temporal inferior RNFL. Our data indicate that RNFL thinning does not occur unspecifically in all neurodegenerative diseases but is in HSP restricted to subtypes with multisystemic degeneration.

  15. Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia.

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    Çifter, Muhsin; Cura, Nil

    2016-10-01

    This report describes the clinical orthodontic management of a patient with spastic quadriplegia and cerebral palsy. Guidelines to overcome difficulties encountered during the treatment period are suggested. A 13-year-old boy with cerebral palsy and spastic quadriplegia complained of an undesirable oral appearance because of his malocclusion. He had a Class II molar relationship, with severe maxillary and moderate mandibular anterior crowding. Enamel hypoplasia was apparent on all teeth. He had losses of body function and upper extremity function of 70% and 39%, respectively. His physical limitations necessitated a treatment approach that did not rely on patient-dependent appliances. The treatment plan called for maxillary first premolar extractions, mandibular incisor protrusion, and air rotor stripping. The patient's oral function and esthetic appearance were significantly improved. Aligned dental arches with good occlusion were obtained. The patient's self-confidence improved during the treatment period. Physical appearance can influence personality and social acceptability. Corrective orthodontic treatment for patients with physical handicaps can improve not only oral function, but also self-confidence and self-esteem. Copyright © 2016 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  16. Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

    Science.gov (United States)

    Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

    2012-06-01

    Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  17. Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.

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    Numata, Yurika; Onuma, Akira; Kobayashi, Yasuko; Sato-Shirai, Ikuko; Tanaka, Soichiro; Kobayashi, Satoru; Wakusawa, Keisuke; Inui, Takehiko; Kure, Shigeo; Haginoya, Kazuhiro

    2013-02-01

    To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia. Eighty-six patients born at term with cerebral palsy (CP) and spastic diplegia (54 males, 32 females; median age 20 y, range 7-42 y) among 829 patients with CP underwent brain MRI between 1990 and 2008. The MRI and clinical findings were analysed retrospectively. Intellectual disability was classified according to the Enjoji developmental test or the Wechsler Intelligence Scale for Children (3rd edition). The median ages at diagnosis of CP, assignment of Gross Motor Function Classification System (GMFCS) level, cognitive assessment, and MRI were 2 years (range 5 mo-8 y), 6 years (2 y 8 mo-19 y), 6 years (1 y 4 mo-19 y), and 7 years (10 mo-30 y) respectively. MRI included normal findings (41.9%), periventricular leukomalacia, hypomyelination, and porencephaly/periventricular venous infarction. The frequency of patients in GMFCS levels III to V and intellectual disability did not differ between those with normal and abnormal MRI findings. Patients with normal MRI findings had significantly fewer epileptic episodes than those with abnormal ones (p=0.001). Varied MRI findings, as well as the presence of severe motor dysfunction and intellectual disability (despite normal MRI), suggest that patients born at term with spastic diplegia had heterogeneous and unidentified pathophysiology. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  18. Prolonged high-dose intravenous magnesium therapy for severe tetanus in the intensive care unit: a case series

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    Fligou Fotini

    2010-03-01

    Full Text Available Abstract Introduction Tetanus rarely occurs in developed countries, but it can result in fatal complications including respiratory failure due to generalized muscle spasms. Magnesium infusion has been used to treat spasticity in tetanus, and its effectiveness is supported by several case reports and a recent randomized controlled trial. Case presentations Three Caucasian Greek men aged 30, 50 and 77 years old were diagnosed with tetanus and admitted to a general 12-bed intensive care unit in 2006 and 2007 for respiratory failure due to generalized spasticity. Intensive care unit treatment included antibiotics, hydration, enteral nutrition, early tracheostomy and mechanical ventilation. Intravenous magnesium therapy controlled spasticity without the need for additional muscle relaxants. Their medications were continued for up to 26 days, and adjusted as needed to control spasticity. Plasma magnesium levels, which were measured twice a day, remained in the 3 to 4.5 mmol/L range. We did not observe hemodynamic instability, arrhythmias or other complications related to magnesium therapy in these patients. All patients improved, came off mechanical ventilation, and were discharged from the intensive care unit in a stable condition. Conclusion In comparison with previous reports, our case series contributes the following meaningful additional information: intravenous magnesium therapy was used on patients already requiring mechanical ventilation and remained effective for up to 26 days (significantly longer than in previous reports without significant toxicity in two patients. The overall outcome was good in all our patients. However, the optimal dose, optimal duration and maximum safe duration of intravenous magnesium therapy are unknown. Therefore, until more data on the safety and efficacy of magnesium therapy are available, its use should be limited to carefully selected tetanus cases.

  19. Zinc as an adjunct treatment for reducing case fatality due to clinical severe infection in young infants: study protocol for a randomized controlled trial.

    Science.gov (United States)

    Wadhwa, Nitya; Basnet, Sudha; Natchu, Uma Chandra Mouli; Shrestha, Laxman P; Bhatnagar, Shinjini; Sommerfelt, Halvor; Strand, Tor A; Ramji, Siddarth; Aggarwal, K C; Chellani, Harish; Govil, Anuradha; Jajoo, Mamta; Mathur, N B; Bhatt, Meenakshi; Mohta, Anup; Ansari, Imran; Basnet, Srijana; Chapagain, Ram H; Shah, Ganesh P; Shrestha, Binod M

    2017-07-10

    An estimated 2.7 of the 5.9 million deaths in children under 5 years of age occur in the neonatal period. Severe infections contribute to almost a quarter of these deaths. Mortality due to severe infections in developing country settings is substantial despite antibiotic therapy. Effective interventions that can be added to standard therapy for severe infections are required to reduce case fatality. This is a double-blind randomized placebo-controlled parallel group superiority trial to investigate the effect of zinc administered orally as an adjunct to standard therapy to infants aged 3 days up to 2 months (59 days) hospitalized with clinical severe infection, that will be undertaken in seven hospitals in Delhi, India and Kathmandu, Nepal. In a 1:1 ratio, we will randomly assign young infants to receive 10 mg of elemental zinc or placebo orally in addition to the standard therapy for a total of 14 days. The primary outcomes hospital case fatality, which is death due to any cause and at any time after enrolment while hospitalized for the illness episode, and extended case fatality, which encompasses the period until 12 weeks after enrolment. A previous study showed a beneficial effect of zinc in reducing the risk of treatment failure, as well as a non-significant effect on case fatality. This study was not powered to detect an effect on case fatality, which this current study is. If the results are consistent with this earlier trial, we would have provided strong evidence for recommending zinc as an adjunct to standard therapy for clinical severe infection in young infants. Universal Trial Number: U1111-1187-6479, Clinical Trials Registry - India: CTRI/2017/02/007966 : Registered on February 27, 2017.

  20. Validity of Modified Ashworth Scale as a Measure of Wrist Spasticity in Stroke Patients

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    Mohammad Heidari

    2011-04-01

    Full Text Available Objectives: There are some controversies about the value of modified Ashworth Scale (MAS for assessing spasticity. The goal of this study was to investigate if there is any correlation between scores obtained from MAS for wrist spasticity and electrophysiological recordings as the objective measure of spasticity. Methods: In this cross-sectional study, 34 stroke patients were employed. Wrist spasticity was clinically measured by means of MAS. Also, an electromyogram (EMG machine was used to elicit Hmax and Mmax from the flexor carpi radialis muscle. Spearman’s correlation coefficient test was used to investigate potential correlation between clinically and electrophysiologically measures of spasticity. Results: The observed relation between MAS and EMG recordings was not statistically significant (rho=0.183, P>0.05. Discussion: Our findings suggest that MAS may be a useful tool for grading hypertonia, but it is not a valid measure of spasticity in selected patients.

  1. RADIOACTIVE IODINE THERAPY WITHOUT RECENT ANTITHYROID DRUG PRETREATMENT FOR HYPERTHYROIDISM COMPLICATED BY SEVERE HYPERBILIRUBINEMIA DUE TO HEPATIC DYSFUNCTION: EXPERIENCE OF A CHINESE MEDICAL CENTER.

    Science.gov (United States)

    Ding, Yong; Xing, Jialiu; Qiu, Zewu; Wang, Yong; Zhang, Youren; Fang, Yi; Peng, Xiaobo; Long, Yahong; Deng, Pei

    2016-02-01

    The objective of this work is to report our experience with (131)I therapy without recent antithyroid drug (ATD) pretreatment for refractory severe hyperthyroidism complicated by hyperbilirubinemia due to hepatic dysfunction. Five patients with refractory severe hyperthyroidism were treated with (131)I at 90 to 120 μCi/g-thyroid (total activity, 6.2 to 10.1 mCi). The patients previously had received ATD treatment from 2 months to 12 years and discontinued ATDs from 2 months to 4 years before (131)I treatment due to treatment failure or severe jaundice. Prior to (131)I therapy, the patients were asked to take a low-iodine diet and were treated with bisoprolol fumarate, digoxin, furosemide, S-adenosylmethionine, polyene phosphatidylcholine, and plasma exchange as supportive treatment for related clinical conditions. Four of the patients also received lithium carbonate in conjunction with their (131)I treatment. The patients were followed for 4 to 9 years after (131)I therapy. After (131)I treatment, jaundice disappeared completely within 3 to 4 months in all patients, and liver function tests returned to normal. Concurrent atrial fibrillation and heart failure, leukopenia and thrombocytopenia, or thrombocytopenia and left cardiac enlargement improved remarkably in 3 patients during the follow-up period. Three to 45 months after (131)I treatment, hypothyroidism was noted in the patients and they were treated with L-thyroxine replacement therapy. (131)I therapy without recent ATD pretreatment for refractory severe hyperthyroidism complicated by serious jaundice appears to be safe and effective, with good long-term results. It may be the preferred therapy for such patients and should be used as early as possible.

  2. Clinical experiences with cannabinoids in spasticity management in multiple sclerosis.

    Science.gov (United States)

    Lorente Fernández, L; Monte Boquet, E; Pérez-Miralles, F; Gil Gómez, I; Escutia Roig, M; Boscá Blasco, I; Poveda Andrés, J L; Casanova-Estruch, B

    2014-06-01

    Spasticity is a common symptom among patients with multiple sclerosis (MS). This study aims to assess the effectiveness and safety of the combination of delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) in clinical practice for the treatment of spasticity in MS. Retrospective observational study with patients treated with inhaled THC/CBD between April 2008 and March 2012. Descriptive patient and treatment variables were collected. Therapeutic response was evaluated based on the doctor's analysis and overall impression. Of the 56 patients who started treatment with THC/CBD, 6 were excluded because of missing data. We evaluated 50 patients (42% male) with a median age 47.8 years (25.6-76.8); 38% were diagnosed with primary progressive MS, 44% with secondary progressive MS, and 18% with relapsing-remitting MS. The reason for prescribing the drug was spasticity (44%), pain (10%), or both (46%). Treatment was discontinued in 16 patients because of ineffectiveness (7 patients), withdrawal (4), and adverse effects (5). The median exposure time in patients whose treatment was discontinued was 30 days vs 174 days in those whose treatment continued at the end of the study. THC/CBD was effective in 80% of patients at a median dose of 5 (2-10) inhalations/day. The adverse event profile consisted of dizziness (11 patients), somnolence (6), muscle weakness (7), oral discomfort (2), diarrhoea (3), dry mouth (2), blurred vision (2), agitation (1), nausea (1), and paranoid ideation (1). THC/CBD appears to be a good alternative to standard treatment as it improves refractory spasticity in MS and has an acceptable toxicity profile. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  3. Benefits of Repetitive Transcranial Magnetic Stimulation (rTMS for Spastic Subjects: Clinical, Functional, and Biomechanical Parameters for Lower Limb and Walking in Five Hemiparetic Patients

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    Luc Terreaux

    2014-01-01

    Full Text Available Introduction. Spasticity is a disabling symptom resulting from reorganization of spinal reflexes no longer inhibited by supraspinal control. Several studies have demonstrated interest in repetitive transcranial magnetic stimulation in spastic patients. We conducted a prospective, randomized, double-blind crossover study on five spastic hemiparetic patients to determine whether this type of stimulation of the premotor cortex can provide a clinical benefit. Material and Methods. Two stimulation frequencies (1 Hz and 10 Hz were tested versus placebo. Patients were assessed clinically, by quantitative analysis of walking and measurement of neuromechanical parameters (H and T reflexes, musculoarticular stiffness of the ankle. Results. No change was observed after placebo and 10 Hz protocols. Clinical parameters were not significantly modified after 1 Hz stimulation, apart from a tendency towards improved recruitment of antagonist muscles on the Fügl-Meyer scale. Only cadence and recurvatum were significantly modified on quantitative analysis of walking. Neuromechanical parameters were modified with significant decreases in Hmax⁡ /Mmax⁡ and T/Mmax⁡ ratios and stiffness indices 9 days or 31 days after initiation of TMS. Conclusion. This preliminary study supports the efficacy of low-frequency TMS to reduce reflex excitability and stiffness of ankle plantar flexors, while clinical signs of spasticity were not significantly modified.

  4. Benefits of repetitive transcranial magnetic stimulation (rTMS) for spastic subjects: clinical, functional, and biomechanical parameters for lower limb and walking in five hemiparetic patients.

    Science.gov (United States)

    Terreaux, Luc; Gross, Raphael; Leboeuf, Fabien; Desal, Hubert; Hamel, Olivier; Nguyen, Jean Paul; Pérot, Chantal; Buffenoir, Kévin

    2014-01-01

    Introduction. Spasticity is a disabling symptom resulting from reorganization of spinal reflexes no longer inhibited by supraspinal control. Several studies have demonstrated interest in repetitive transcranial magnetic stimulation in spastic patients. We conducted a prospective, randomized, double-blind crossover study on five spastic hemiparetic patients to determine whether this type of stimulation of the premotor cortex can provide a clinical benefit. Material and Methods. Two stimulation frequencies (1 Hz and 10 Hz) were tested versus placebo. Patients were assessed clinically, by quantitative analysis of walking and measurement of neuromechanical parameters (H and T reflexes, musculoarticular stiffness of the ankle). Results. No change was observed after placebo and 10 Hz protocols. Clinical parameters were not significantly modified after 1 Hz stimulation, apart from a tendency towards improved recruitment of antagonist muscles on the Fügl-Meyer scale. Only cadence and recurvatum were significantly modified on quantitative analysis of walking. Neuromechanical parameters were modified with significant decreases in H max⁡ /M max⁡ and T/M max⁡ ratios and stiffness indices 9 days or 31 days after initiation of TMS. Conclusion. This preliminary study supports the efficacy of low-frequency TMS to reduce reflex excitability and stiffness of ankle plantar flexors, while clinical signs of spasticity were not significantly modified.

  5. The effect of Sub-maximal exercise-rehabilitation program on cardio-respiratory endurance indexes and oxygen pulse in patients with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    M Izadi

    2006-05-01

    Full Text Available Background: Physical or cardio-respiratory fitness are of the best important physiological variables in children with cerebral palsy (CP, but the researches on exercise response of individuals with CP are limited. Our aim was to determine the effect of sub-maximal rehabilitation program (aerobic exercise on maximal oxygen uptake, oxygen pulse and cardio- respiratory physiological variables of children with moderate to severe spastic cerebral palsy diplegia and compare with able-bodied children. Methods: In a controlled clinical trial study, 15 children with diplegia spastic cerebral palsy, were recruited on a voluntarily basis (experimental group and 18 subjects without neurological impairments selected as control group. In CP group, aerobic exercise program performed on the average of exercise intensity (144 beat per minute of heart rate, 3 times a week for 3 months. The time of each exercise session was 20-25 minutes. Dependent variables were measured in before (pretest and after (post test of rehabilitation program through Mac Master Protocol on Tantories cycle ergometer in CP group and compared with the control group. Results: The oxygen pulse (VO2/HR during ergometery protocol was significantly lower in CP group than normal group (P<0.05. No significant statistical difference in maximal oxygen uptake (VO2 max was found between groups. The rehabilitation program leads to little increase of this variable in CP group. After sub-maximal exercise in pretest and post test, the heart rate of patient group was greater than control group, and aerobic exercise leads to significant decrease in heart rate in CP patients(P<0.05. Conclusion: The patients with spastic cerebral palsy, because of high muscle tone, severe spasticity and involuntarily movements have higher energy cost and lower aerobic fitness than normal people. The rehabilitation exercise program can improve physiological function of muscle and cardio-respiratory endurance in these

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

    Science.gov (United States)

    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.

  7. Effects of intermittent theta burst stimulation on spasticity after stroke.

    Science.gov (United States)

    Kim, Dae Hyun; Shin, Ji Cheol; Jung, Seungsoo; Jung, Tae-Min; Kim, Deog Young

    2015-07-08

    Spasticity is a common cause of long-term disability in poststroke hemiplegic patients. We investigated whether intermittent theta burst stimulation (iTBS) could reduce upper-limb spasticity after a stroke. Fifteen hemiplegic stroke patients were recruited for a double-blind sham-controlled cross-over design study. A single session of iTBS or sham stimulation was delivered on the motor hotspot of the affected flexor carpi radialis muscle in a random and counterbalanced order with a 1-week interval. Modified Ashworth scale (MAS), modified Tardieu scale (MTS), H-wave/M-wave amplitude ratio, peak torque (PT), peak torque angle (PTA), work of affected wrist flexor, and rectified integrated electromyographic activity of the flexor carpi radialis muscle were measured before, immediately after, 30 min after, and 1 week after iTBS or sham stimulation. Repeated-measures analysis of variance showed a significant interaction between time and intervention for the MAS, MTS, PT, PTA, and rectified integrated electromyographic activity (PiTBS compared with sham stimulation. However, the H-wave/M-wave amplitude ratio and work were not affected. MAS and MTS significantly improved for at least 30 min after iTBS, but the other parameters only improved immediately after iTBS (PiTBS on the affected hemisphere may help to reduce poststroke spasticity transiently.

  8. Impact of Spasticity on Balance Control during Quiet Standing in Persons after Stroke

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    Reza Rahimzadeh Khiabani

    2017-01-01

    Full Text Available Background. Balance impairments, falls, and spasticity are common after stroke, but the effect of spasticity on balance control after stroke is not well understood. Methods. In this cross-sectional study, twenty-seven participants with stroke were divided into two groups, based on ankle plantar flexor spasticity level. Fifteen individuals with high spasticity (Modified Ashworth Scale (MAS score of ≥2 and 12 individuals with low spasticity (MAS score <2 completed quiet standing trials with eyes open and closed conditions. Balance control measures included centre of pressure (COP root mean square (RMS, COP velocity, and COP mean power frequency (MPF in anterior-posterior and mediolateral (ML directions. Trunk sway was estimated using a wearable inertial measurement unit to measure trunk angle, trunk velocity, and trunk velocity frequency amplitude in pitch and roll directions. Results. The high spasticity group demonstrated greater ML COP velocity, trunk roll velocity, trunk roll velocity frequency amplitude at 3.7 Hz, and trunk roll velocity frequency amplitude at 4.9 Hz, particularly in the eyes closed condition (spasticity by vision interaction. ML COP MPF was greater in the high spasticity group. Conclusion. Individuals with high spasticity after stroke demonstrated greater impairment of balance control in the frontal plane, which was exacerbated when vision was removed.

  9. Efficacy and safety of vedolizumab as a treatment option for moderate to severe refractory ulcerative colitis in two patients after liver transplant due to primary sclerosing cholangitis

    Directory of Open Access Journals (Sweden)

    Raúl Vicente Olmedo-Martín

    Full Text Available Vedolizumab is a humanized IgG1 monoclonal antibody that selectively blocks the lymphocyte integrin α4β7 and prevents its interaction with endothelial adhesion molecules and subsequent transmigration to the gastrointestinal tract. The drug was approved in 2014 for the induction and maintenance treatment of ulcerative colitis and moderate to severe Crohn's disease that is refractory or intolerant to conventional treatment with corticoids and immunosuppressants and/or anti-TNFα drugs. However, inflammatory bowel disease has a variable behavior following liver transplant. One third of patients with ulcerative colitis associated with primary sclerosing cholangitis are expected to deteriorate despite receiving immunosuppression to prevent rejection. There is limited experience with anti-TNFα agents in patients with inflammatory bowel disease in the setting of liver transplantation and the studies to date involve a limited number of cases. The efficacy and safety data of vedolizumab in this situation are unreliable and very preliminary. We present two cases with the aim to present the efficacy and safety of vedolizumab after one year of treatment in two patients who underwent a transplant due to primary sclerosing cholangitis. One case had de novo post-transplant ulcerative colitis refractory to two anti-TNFα drugs (golimumab and infliximab. The other patient had a colostomy due to fulminant colitis and developed severe ulcerative proctitis refractory to infliximab after reconstruction with an ileorectal anastomosis.

  10. Magnetic resonance imaging for Human T-cell lymphotropic virus type 1 (HTLV1- associated myelopathy/tropical spastic paraparesis patients: a systematic review

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    Fariba Zemorshidi

    2015-06-01

    Full Text Available Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1 associated myelopathy/tropical spastic paraparesis is a chronic progressive neurologic disease which might be associated by brain and spinal cord atrophy and lesions. Here we systematically reviewed the brain and spinal cord abnormalities reported by using magnetic resonance imaging modality on HTLV-1 associated myelopathy/tropical spastic paraparesis patients. Methods: PubMed was searched for all the relevant articles which used magnetic resonance imaging for patients with human HTLV-1 associated myelopathy/tropical spastic paraparesis disease. Included criteria were all the cohort and case series on with at least 10 patients. We had no time limitation for searched articles, but only English language articles were included in our systematic review. Exclusion criteria were none-English articles, case reports, articles with less than 10 patients, spastic paraparesis patients with unknown etiology, and patients with HTLVII. Results: Total of 14 relevant articles were extracted after studying title, abstracts, and full text of the irrelevant articles. Only 2/14 articles, reported brain atrophy incidence. 5/14 articles studied the brain lesions prevalence. Spinal cord atrophy and lesions, each were studied in 6/14 articles.Discussion: According to the extracted data, brain atrophy does not seem to happen frequently in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis. None-specific brain lesions identified in articles are indicative of low specificity of magnetic resonance imaging technique despite its high sensitivity. Conclusion: Prevalence of spinal cord lesions and atrophy in these patients might be due to the degenerative processes associated with aging phenomenon. Further larger studies in endemic areas can more accurately reveal the specificity of magnetic resonance imaging for these patients.

  11. Factors Influencing Goal Attainment in Patients with Post-Stroke Upper Limb Spasticity Following Treatment with Botulinum Toxin A in Real-Life Clinical Practice: Sub-Analyses from the Upper Limb International Spasticity (ULIS-II Study

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    Klemens Fheodoroff

    2015-04-01

    Full Text Available In this post-hoc analysis of the ULIS-II study, we investigated factors influencing person-centred goal setting and achievement following botulinum toxin-A (BoNT-A treatment in 456 adults with post-stroke upper limb spasticity (ULS. Patients with primary goals categorised as passive function had greater motor impairment (p < 0.001, contractures (soft tissue shortening [STS] (p = 0.006 and spasticity (p = 0.02 than those setting other goal types. Patients with goals categorised as active function had less motor impairment (0.0001, contracture (p < 0.0001, spasticity (p < 0.001 and shorter time since stroke (p = 0.001. Patients setting goals for pain were older (p = 0.01 with more contractures (p = 0.008. The proportion of patients achieving their primary goal was not impacted by timing of first-ever BoNT-A injection (medium-term (≤1 year vs. longer-term (>1 year post-stroke (80.0% vs. 79.2% or presence or absence of severe contractures (76.7% vs. 80.6%, although goal types differed. Earlier BoNT-A intervention was associated with greater achievement of active function goals. Severe contractures impacted negatively on goal achievement except in pain and passive function. Goal setting by patients with ULS is influenced by impairment severity, age and time since stroke. Our findings resonate with clinical experience and may assist patients and clinicians in selecting realistic, achievable goals for treatment.

  12. Twin pregnancy complicated by severe hemolytic disease of the fetus and newborn due to anti-g and anti-C.

    Science.gov (United States)

    Trevett, Thomas N; Moise, Kenneth J

    2005-11-01

    Hemolytic disease of the fetus and newborn caused by anti-G antibodies is rare, and in most previously reported cases, leads to a mild anemia. The RhG antigen is usually found in association with both RhD and RhC. We report a case of a twin pregnancy affected by both anti-G and anti-C alloantibodies leading to severe hemolytic disease of the fetus and newborn requiring multiple intrauterine transfusions and prolonged postnatal therapy. A patient with a prolonged history of previously affected pregnancies due to anti-D and anti-C was subsequently found to be affected with anti-G instead. She required aggressive therapy during her pregnancy, initially with intravenous immune globulin and plasmapheresis until umbilical blood sampling and intrauterine transfusions were feasible. Although hemolytic disease of the fetus and newborn due to anti-G antibodies is rare and usually mild, these pregnancies should be followed up closely and in utero therapy should be offered if necessary.

  13. Sesgos de confusión por indicación y gravedad en estudios observacionales Confounding bias due to indication and severity in observational studies

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    Javier Nuevo

    2011-04-01

    Full Text Available Los estudios observacionales están sujetos a sesgos que pueden conducir a una interpretación errónea de los resultados. El presente estudio tuvo como objetivo determinar la influencia del tratamiento con omeprazol sobre la duración de la baja laboral en pacientes con esguince de tobillo que tomaban antiinflamatorios no esteroideos. Se utilizaron los registros de la base de datos de la mutua Ibermutuamur. En contra de lo esperado, se observó que los pacientes que recibieron omeprazol presentaron una baja más prolongada que los que no recibieron omeprazol. Es probable que estos hallazgos se deban a la influencia de un sesgo de confusión por gravedad, pues los pacientes que recibieron omeprazol presentaban un esguince más grave, aunque no se puede descartar un sesgo de confusión por indicación. Para evitar la influencia de estos errores sistemáticos se deben controlar los sesgos a lo largo de todo el estudio, desde el diseño hasta el análisis de los datos.Observational studies are subject to biases that may lead to misinterpretation of the results. This study aimed to determine the influence of omeprazole treatment on the duration of sick leave in patients with ankle sprains treated with non-steroidal anti-inflammatory drugs. We used the Ibermutuamur database. Contrary to our expectations, sick leave was longer in patients who received omeprazole than in those who did not. These findings were probably due to the influence of a bias due to confounding by severity, given that patients who received omeprazole had a worse kind of ankle sprain; however, a bias due to confounding by indication cannot be excluded. To avoid the influence of these systematic errors, biases should be monitored from the design stage to the data analysis stage.

  14. Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.

    Science.gov (United States)

    Vernengo, Luis; Chourbagi, Oussama; Panuncio, Ana; Lilienbaum, Alain; Batonnet-Pichon, Sabrina; Bruston, Francine; Rodrigues-Lima, Fernando; Mesa, Rosario; Pizzarossa, Carlos; Demay, Laurence; Richard, Pascale; Vicart, Patrick; Rodriguez, Maria-Mirta

    2010-03-01

    Desmin myopathy is a heterogeneous neuromuscular disorder characterized by skeletal myopathy and cardiomyopathy, inherited mostly in an autosomal dominant pattern. We report a five generation Uruguayan family with severe cardiomyopathy and skeletal myopathy. Its most striking features are: atrial dilation, arrhythmia, conduction block and sudden death due to conduction impairment. Affected skeletal muscle shows alteration of mitochondria with paracrystallin inclusions and granulofilamentous material scattered in the muscle fibres. This family carries an unusual deletion p.E114del within the 1A rod domain of desmin. Transfected cells expressing the mutated desmin show punctuated and speckled cytoplasmic aggregates. The mutation causes a local conformational change in heptads a/d residues and charge positions. These findings lead to the hypothesis that coiled-coil interactions may be impaired, resulting in severe alterations in the desmin network. This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy. Copyright 2010. Published by Elsevier B.V.

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

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    Andrea Martinuzzi

    Full Text Available 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

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

    Science.gov (United States)

    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

  17. Prevalence and risk factors for epilepsy in children with spastic cerebral palsy

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    Dedy Rahmat

    2010-03-01

    Conclusions The prevalence of epilepsy in spastic CP is 39%. The risk factors for epilepsy in spastic CP are post central nervous system infection, and ocurrence of seizure in the first year of life. [Paediatr Indones. 2010;50:11-7].

  18. Spinal Cord Stimulation for Spasticity: Historical Approaches, Current Status, and Future Directions.

    Science.gov (United States)

    Nagel, Sean J; Wilson, Saul; Johnson, Michael D; Machado, Andre; Frizon, Leonardo; Chardon, Matthieu K; Reddy, Chandan G; Gillies, George T; Howard, Matthew A

    2017-06-01

    Millions of people worldwide suffer with spasticity related to irreversible damage to the brain or spinal cord. Typical antecedent events include stroke, traumatic brain injury, and spinal cord injury, although insidious onset is also common. Regardless of the cause, the resulting spasticity leads to years of disability and reduced quality of life. Many treatments are available to manage spasticity; yet each is fraught with drawbacks including incomplete response, high cost, limited duration, dose-limiting side effects, and periodic maintenance. Spinal cord stimulation (SCS), a once promising therapy for spasticity, has largely been relegated to permanent experimental status. In this review, our goal is to document and critique the history and assess the development of SCS as a treatment of lower limb spasticity. By incorporating recent discoveries with the insights gained from the early pioneers in this field, we intend to lay the groundwork needed to propose testable hypotheses for future studies. SCS has been tested in over 25 different conditions since a potentially beneficial effect was first reported in 1973. However, the lack of a fully formed understanding of the pathophysiology of spasticity, archaic study methodology, and the early technological limitations of implantable hardware limit the validity of many studies. SCS offers a measure of control for spasticity that cannot be duplicated with other interventions. With improved energy-source miniaturization, tailored control algorithms, novel implant design, and a clearer picture of the pathophysiology of spasticity, we are poised to reintroduce and test SCS in this population. © 2017 International Neuromodulation Society.

  19. Effect of whole-body vibration on muscle strength, spasticity, and ...

    African Journals Online (AJOL)

    CP) and is characterized by spasticity and muscle weakness of both lower limbs resulting in decreased walking ability. The purpose of this study was to evaluate the effect of whole body vibration (WBV) training on muscle strength, spasticity, and ...

  20. Clinical assessment of spasticity in children with cerebral palsy: a critical review of available instruments

    NARCIS (Netherlands)

    Scholtes, Vanessa A. B.; Becher, Jules G.; Beelen, Anita; Lankhorst, Gustaaf J.

    2006-01-01

    This study reviews the instruments used for the clinical assessment of spasticity in children with cerebral palsy, and evaluates their compliance with the concept of spasticity, defined as a velocity-dependent increase in muscle tone to passive stretch. Searches were performed in Medline, Embase,

  1. Intrathecal baclofen therapy in children with intractable spastic cerebral palsy: a cost-effectiveness analysis

    NARCIS (Netherlands)

    Hoving, M.A.; Evers, S.M.A.A.; Ament, A.J.H.A.; van Raak, E.P.M.; Becher, J.G.; Rotteveel, J.; Vles, J.S.H.

    2008-01-01

    In a Dutch national study, we recently established the effectiveness and safety of continuous intrathecal baclofen infusion (CITB) in children with intractable spastic cerebral palsy (CP). Because prospective studies on the cost-effectiveness of CITB in children with spastic CP are lacking, we

  2. Intrathecal baclofen therapy in children with intractable spastic cerebral palsy: a cost-effectiveness analysis.

    NARCIS (Netherlands)

    Hoving, M.A.; Evers, S.M.; Ament, A.J.; Raak, E.P. van; Vles, J.S.; Becher, J.G.; Vermeulen, R.; Brouwer, O.F.; Maathuis, C.G.B.; Catsman-Berrevoets, C.E.; Gerritsen, J.; Geerts, M.J.; Jongerius, P.H.; Nieuwenhuizen, O.F.; Rotteveel, J.J.; Speth, L.A.; Stroink, H.; Ziel, E.G. van der

    2008-01-01

    In a Dutch national study, we recently established the effectiveness and safety of continuous intrathecal baclofen infusion (CITB) in children with intractable spastic cerebral palsy (CP). Because prospective studies on the cost-effectiveness of CITB in children with spastic CP are lacking, we

  3. Botulinum therapy for poststroke spasticity of the lower extremity (clinical cases

    Directory of Open Access Journals (Sweden)

    L. V. Krylova

    2014-01-01

    Full Text Available The paper deals with the topical problem – the medical rehabilitation of patients with poststroke spasticity. It describes clinical cases of patients with poststroke spasticity of the upper and lower extremities who have received combined therapy using botulinum toxin type A (Botox injections.

  4. Hindlimb spasticity after unilateral motor cortex lesion in rats is reduced by contralateral nerve root transfer.

    Science.gov (United States)

    Zong, Haiyang; Ma, Fenfen; Zhang, Laiyin; Lu, Huiping; Gong, Jingru; Cai, Min; Lin, Haodong; Zhu, Yizhun; Hou, Chunlin

    2016-12-01

    Lower extremity spasticity is a common sequela among patients with acquired brain injury. The optimum treatment remains controversial. The aim of our study was to test the feasibility and effectiveness of contralateral nerve root transfer in reducing post stroke spasticity of the affected hindlimb muscles in rats. In our study, we for the first time created a novel animal hindlimb spastic hemiplegia model in rats with photothrombotic lesion of unilateral motor cortex and we established a novel surgical procedure in reducing motor cortex lesion-induced hindlimb spastic hemiplegia in rats. Thirty six rats were randomized into three groups. In group A, rats received sham operation. In group B, rats underwent unilateral hindlimb motor cortex lesion. In group C, rats underwent unilateral hindlimb cortex lesion followed by contralateral L4 ventral root transfer to L5 ventral root of the affected side. Footprint analysis, Hoffmann reflex (H-reflex), cholera toxin subunit B (CTB) retrograde tracing of gastrocnemius muscle (GM) motoneurons and immunofluorescent staining of vesicle glutamate transporter 1 (VGLUT1) on CTB-labelled motoneurons were used to assess spasticity of the affected hindlimb. Sixteen weeks postoperatively, toe spread and stride length recovered significantly in group C compared with group B (Pmotor cortex lesion-induced hindlimb spasticity in rats. Our data indicated that this could be an alternative treatment for unilateral lower extremity spasticity after brain injury. Therefore, contralateral neurotization may exert a potential therapeutic candidate to improve the function of lower extremity in patients with spastic hemiplegia. © 2016 The Author(s).

  5. Neural tension technique is no different from random passive movements in reducing spasticity in patients with traumatic brain injury

    DEFF Research Database (Denmark)

    Lorentzen, Jakob; Nielsen, Dorthe; Holm, Karl

    2012-01-01

    Purpose: Neural tension technique (NTT) is a therapy believed to reduce spasticity and to increase range of motion (ROM). This study compared the ability of NTT and random passive movements (RPMs) to reduce spasticity in the knee flexors in 10 spastic patients with brain injury. Methods: An RCT...

  6. Procedure Oriented Torsional Anatomy of the Forearm for Spasticity Injection.

    Science.gov (United States)

    Chiou-Tan, Faye; Cianca, John; John, Joslyn; Furr-Stimming, Erin; Pandit, Sindhu; Taber, Katherine H

    2015-01-01

    : This is the second in a series of articles related to the concept of "torsional" anatomy. The objective of this article is to provide musculoskeletal ultrasound (MSKUS) anatomy of the forearm in the position of hemispastic flexion as a reference relevant to needle procedures. The MSKUS images were obtained in a healthy human subject. Marker dots were placed over common injection sites in the forearm for spasticity. The MSKUS probe was centered over each dot to obtain a cross-sectional view. A pair of MSKUS images was recorded for each site: the first in anatomic neutral and second in hemiparetic spastic position. The images were compared side to side. In addition, a video recording was made at each site to track the movement of the muscles and nerves during internal rotation. The pronator teres (PT) rotated medially and the brachialis and biceps tendon rotated in view. In addition, the median nerve became more superficial. The flexor carpi radialis rotated medially and was replaced by PT and the median nerve. The flexor carpi ulnaris and flexor digitorum profundus rotated medially and were replaced by the flexor carpi radialis, PT and median nerve. The flexor digitorum superficialis was replaced by the brachioradialis, extensor carpi radialis brevis, and radial nerve. The brachioradialis was replaced by the extensor carpi radialis brevis and extensor digitorum communis. Intended muscle targets rotate out of view and injection range. These are replaced by other muscles and nerves that could inadvertently be injected. This potentially could result in both increased complications and decreased efficacy of the procedure. It is hoped that this series of images will increase the accuracy and safety of needle placement for spasticity injections in the forearm.

  7. Four-fold increase in direct costs of stroke survivors with spasticity compared with stroke survivors without spasticity: the first year after the event.

    Science.gov (United States)

    Lundström, Erik; Smits, Anja; Borg, Jörgen; Terént, Andreas

    2010-02-01

    The prevalence of spasticity after first-ever stroke is approximately 20%, but there are no health economic studies on costs associated with spasticity after stroke. The objective of our study was to estimate direct costs of stroke with spasticity for patients surviving up to 1 year after the stroke event in comparison to costs of stroke without spasticity. A representative sample of patients with first-ever stroke hospitalized at Uppsala University Hospital was eligible for our cross-sectional survey. All direct costs during 1 year were identified for each patient, including costs for hospitalization (acute and rehabilitation), primary health care, medication, and costs for municipality services. Swedish currency was converted to Purchasing Power Parities US dollar (PPP$). Median age (interquartile range) was 73 years (18), and the proportion of women was 48%. The majority of the direct costs (78%) was associated with hospitalization, whereas 20% was associated with municipality services during 1 year after a first-ever stroke. Only 1% of all direct costs were related to primary health care and 1% to medication. The level of costs for patients with stroke was correlated with the presence of spasticity as measured with the modified Ashworth scale (r(s)=0.524) and with the degree of disability as measured with modified Rankin Scale (r(s)=0.624). The mean (median, interquartile range) direct cost for stroke patients with spasticity was PPP$ 84,195 (72,116, 53,707) compared with PPP$ 21,842 (12,385, 17,484) for patients with stroke without spasticity (Pstroke survivors are 4 times higher than direct costs for patients with stroke without spasticity during the first year after the event.

  8. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    DEFF Research Database (Denmark)

    Hardies, Katia; May, Patrick; Djémié, Tania

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-...... in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies....

  9. Neuromuscular properties of different spastic human joints vary systematically.

    Science.gov (United States)

    Mirbagheri, M M; Settle, K

    2010-01-01

    We quantified the mechanical abnormalities of the spastic wrist in chronic stroke survivors, and determined whether these findings were representative of those recorded at the elbow and ankle joints. System identification techniques were used to characterize the mechanical abnormalities of these joints and to identify the contribution of intrinsic and reflex stiffness to these abnormalities. Modulation of intrinsic and reflex stiffness with the joint angle was studied by applying PRBS perturbations to the joints at different joint angles over the range of motion. Age-matched healthy subjects were used as control.

  10. The meaning of spasticity to people with multiple sclerosis: what can health professionals learn?

    Science.gov (United States)

    Morley, Alex; Tod, Angela; Cramp, Mary; Mawson, Sue

    2013-07-01

    Multiple sclerosis (MS) is the most common disabling neurological condition affecting young adults. One third of people on an American registry of people with MS (PWMS) reported having activities affected by spasticity. The psychosocial effects of spasticity in people with MS have been shown to be distressing and detrimental to emotional and social relationships when investigated from a psychology perspective. This paper investigates the impact of spasticity on the lives of people living with MS from a physiotherapeutic perspective. This study involved 12 semi-structured interviews with individuals experiencing MS-related spasticity. Ten sets of data were analyzed following framework analysis principles. Results suggest spasticity effects life experience of these PWMS in diverse and complex ways. Physical, psychological and social consequences of spasticity are closely linked and can be far reaching. Therapists need to be aware of links between specific physical symptoms and their psychosocial consequences if they want to improve peoples' quality of life. This paper provides in depth qualitative research evidence for the complexity of the spasticity experience for each individual, strengthening the argument for a patient-centred approach to treatment. These results also support the case for targeted interventions with effectiveness recorded in a patient-centred way. • Spasticity is suggested here to affect the lives of individuals with multiple sclerosis in diverse and far reaching ways. Therapists need to investigate this fully in subjective assessment to impact on people's quality of life. • Direct links were identified between treatable physical symptoms and far reaching consequences of spasticity. • Knowledge about the complexity of the spasticity experience for each individual will allow therapists to target interventions appropriately and accurately record effectiveness in a patient-centred way.

  11. Functional Brain Correlates of Upper Limb Spasticity and Its Mitigation following Rehabilitation in Chronic Stroke Survivors

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    Svetlana Pundik

    2014-01-01

    Full Text Available Background. Arm spasticity is a challenge in the care of chronic stroke survivors with motor deficits. In order to advance spasticity treatments, a better understanding of the mechanism of spasticity-related neuroplasticity is needed. Objective. To investigate brain function correlates of spasticity in chronic stroke and to identify specific regional functional brain changes related to rehabilitation-induced mitigation of spasticity. Methods. 23 stroke survivors (>6 months were treated with an arm motor learning and spasticity therapy (5 d/wk for 12 weeks. Outcome measures included Modified Ashworth scale, sensory tests, and functional magnetic resonance imaging (fMRI for wrist and hand movement. Results. First, at baseline, greater spasticity correlated with poorer motor function (P=0.001 and greater sensory deficits (P=0.003. Second, rehabilitation produced improvement in upper limb spasticity and motor function (P<0.0001. Third, at baseline, greater spasticity correlated with higher fMRI activation in the ipsilesional thalamus (rho=0.49, P=0.03. Fourth, following rehabilitation, greater mitigation of spasticity correlated with enhanced fMRI activation in the contralesional primary motor (r=-0.755, P=0.003, premotor (r=−0.565, P=0.04, primary sensory (r=−0.614, P=0.03, and associative sensory (r=−0.597, P=0.03 regions while controlling for changes in motor function. Conclusions. Contralesional motor regions may contribute to restoring control of muscle tone in chronic stroke.

  12. The Course of Headache in Patients With Moderate-to-Severe Headache Due to Aneurysmal Subarachnoid Hemorrhage: A Retrospective Cross-Sectional Study.

    Science.gov (United States)

    Hong, Chang-Ki; Joo, Jin-Yang; Kim, Yong Bae; Shim, Yu Shik; Lim, Yong Cheol; Shin, Yong Sam; Chung, Joonho

    2015-01-01

    The purpose of this study was to evaluate the course of headache in patients with moderate-to-severe headache due to aneurysmal subarachnoid hemorrhage (aSAH) and to identify its predisposing factors. Little is known about the long-term course of headache in patients with aSAH. Since September 2009, patients with aSAH have had their headaches prospectively rated using a numeric rating scale (NRS). From this database containing 838 patients, 217 were included and all included patients met the following criteria: (1) presence of ruptured intracranial aneurysms on computed tomography angiography or magnetic resonance angiography; (2) alert consciousness (Glasgow Coma Scale 15); (3) newly onset moderate-to-severe headache (NRS ≥ 4) due to ruptured intracranial aneurysms; and (4) good clinical outcome at discharge (modified Rankin Scale 0, 1, or 2). We observed the changes in NRS scores from initial to 12-month follow-up and identified the predisposing factors of NRS changes. Of the 217 patients, 182 (83.9%) experienced improvement in NRS score ≤ 3 upon discharge. The NRS scores at discharge were significantly lower than those on admission (P headache improvement included previous stroke (odds ratio [OR] = 0.141; 95% CI 0.051-0.381; P headache treated with medication (OR = 0.079; 95% CI 0.010-0.518; P = .008), and endovascular treatment (EVT; OR = 2.531; 95% CI 1.141-5.912; P = .026). The NRS scores tended to decrease continuously until the 12-month follow-up. EVT and symptomatic vasospasm were independently associated with a decrease of NRS in the follow-up periods. The course of headache in patients with aSAH continuously improved during the 12 months of follow-up. Headache improvement might be expected in patients who were treated with EVT and in those who did not have previous stroke or headache. © 2015 American Headache Society.

  13. Effect of Adding Swedish Massage to Occupational Therapy on Muscle Tone of Spastic Cerebral Palsied Children

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    Firouzeh Sajedi

    2007-10-01

    Full Text Available Objective: Cerebral palsy is a nonprogressive disorder in body posture and movement, due to different etiologies. Different medical and rehabilitation interventions include massage have been used in these children. This study has been done to determine the effect of adding massage to occupational therapy on muscle tone of children with spastic cerebral palsy. Materials & Methods: This study was a double blind clinical trial. The children were recruited from clinics of University of Welfare & Rehabilitation Sciences. The individuals were divided to intervention and control groups. The routine rehabilitation techniques were done in 3 months in both groups. The intervention group received massage for 30 minutes before rehabilitation. Muscle tonicity was evaluated at the beginning of the study and 3 months later by Ashworth test. The data analysis was done by parametric (t test, paired t test and nonparametric (Mann Whitney, Wilcoxon tests. Results: Thirteen subjects of case (intervention group and 14 subjects of control group were studied. The average age in case group and control group was 49.5, and 42.1 months respectively. There were no statistically significant differences in Tonicity of upper and lower limbs, trunk and neck between intervention group and control group (P>0/05. Conclusion: In general based on the results of this study, adding massage to occupational therapy had no effect on tonicity of spastic cerebral palsied children. Regarding to some effects of massage mentioned in different articles on physical abilities of children with C.P. as well as executive limitations in this research, it is not possible to reject the effects of homeopathy on physical abilities of children with C.P.

  14. Evaluation of a strict protocol approach in managing women with severe disease due to hypertension in pregnancy: A before and after study

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    Backer Fèbè

    2005-09-01

    Full Text Available Abstract Background To evaluate whether the introduction of a strict protocol based on the systemic evaluation of critically ill pregnant women with complications of hypertension affected the outcome of those women. Method Study group: Indigent South African women managed in the tertiary hospitals of the Pretoria Academic Complex. Since 1997 a standard definition of women with severe acute maternal morbidity (SAMM, also referred to as a Nearmiss, has been used in the Pretoria Academic Complex. All cases of SAMM and maternal deaths (MD were entered on the Maternal Morbidity and Mortality Audit System programme (MaMMAS. A comparison of outcome of severely ill women who had complications of hypertension in pregnancy was performed between 1997–1998 (original protocol and 2002–2003 (strict protocol. Data include women referred from outside the Pretoria Academic Complex area to the tertiary hospitals. Results Between 1997–1998 there were 79 women with SAMM and 18 maternal deaths due to complications of hypertension, compared with 91 women with SAMM and 13 maternal deaths in 2002–2003. The mortality index (MI declined from 18.6% to 12.5% (OR 0.62, 95% CI 0.27–1.45. Statistically significant fewer women had renal failure (RR 0.37, 95% CI 0.21 – 0.66 and cerebral complications (RR 0.52, 95%CI 0.34 – 0.81 during the second period, and liver dysfunction (RR 0.27 95%CI 0.06 – 1.25 tended to be lower. However, there tended to be an increase in the number of women, who had immune system failure (RR 4.2 95%CI 0.93 – 18.94 and respiratory failure (RR 1.42 95%CI 0.88 – 2.29 although it did not reach significance. Cardiac failure remained constant (RR 0.84 95%CI 0.54 – 1.30. Conclusion The strict protocol approach based on the systemic evaluation of severely ill pregnant women with complications of hypertension and an intensive, regular feedback mechanism has been associated with a reduction in the number of patients with renal failure and

  15. Quick screening tool for patients with severe negative emotional reactions to chronic illness: psychometric study of the negative emotions due to chronic illness screening test (NECIS).

    Science.gov (United States)

    Huang, Yun-Hsin; Wu, Chih-Hsun; Chen, Hsiu-Jung; Cheng, Yih-Ru; Hung, Fu-Chien; Leung, Kai-Kuan; Lue, Bee-Horng; Chen, Ching-Yu; Chiu, Tai-Yuan; Wu, Yin-Chang

    2018-01-16

    Severe negative emotional reactions to chronic illness are maladaptive to patients and they need to be addressed in a primary care setting. The psychometric properties of a quick screening tool-the Negative Emotions due to Chronic Illness Screening Test (NECIS)-for general emotional problems among patients with chronic illness being treated in a primary care setting was investigated. Three studies including 375 of patients with chronic illness were used to assess and analyze internal consistency, test-retest reliability, criterion-related validity, a cut-off point for distinguishing maladaptive emotions and clinical application validity of NECIS. Self-report questionnaires were used. Internal consistency (Cronbach's α) ranged from 0.78 to 0.82, and the test-retest reliability was 0.71 (P analysis reference, the receiver-operating characteristic curve analysis revealed an area under the curve of 0.81 and 0.82 (ps emotions, with a sensitivity and specificity of 83.3 and 69.0%, and 68.5 and 83.0%, respectively. The clinical application validity analysis revealed that low NECIS group showed significantly better adaptation to chronic illness on the scales of subjective health, general satisfaction with life, self-efficacy of self-care for disease, illness perception and stressors in everyday life. The NECIS has satisfactory psychometric properties for use in the primary care setting. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. Speech Respiratory Measures in Spastic Cerebral Palsied and Normal Children

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    Hashem Shemshadi

    2007-10-01

    Full Text Available Objective: Research is designed to determine speech respiratory measures in spastic cerebral palsied children versus normal ones, to be used as an applicable tool in speech therapy plans.  Materials & Methods: Via a comparative cross-sectional study (case–control, and through a directive goal oriented sampling in case and convenience approach for controls twenty spastic cerebral palsied and twenty control ones with age (5-12 years old and sex (F=20, M=20 were matched and identified. All possible inclusion and exclusion criteria were considered by thorough past medical, clinical and para clinical such as chest X-ray and Complete Blood Counts reviews to rule out any possible pulmonary and/or systemic disorders. Their speech respiratory indices were determined by Respirometer (ST 1-dysphonia, made and normalized by Glasgow University. Obtained data were analyzed by independent T test. Results: There were significant differences between cases and control groups for "mean tidal volume", "phonatory volume" and "vital capacity" at a=0/05 values and these values in patients were less (34% than normal children (P<0/001. Conclusion: Measures obtained are highly crucial for speech therapist in any speech therapy primary rehabilitative plans for spactic cerebral palsied children.

  17. Plastic changes in spinal synaptic transmission following botulinum toxin A in patients with post-stroke spasticity.

    Science.gov (United States)

    Kerzoncuf, Marjorie; Bensoussan, Laurent; Delarque, Alain; Durand, Jacques; Viton, Jean-Michel; Rossi-Durand, Christiane

    2015-11-01

    The therapeutic effects of intramuscular injections of botulinum toxin-type A on spasticity can largely be explained by its blocking action at the neuromuscular junction. Botulinum toxin-type A is also thought to have a central action on the functional organization of the central nervous system. This study assessed the action of botulinum toxin-type A on spinal motor networks by investigating post-activation depression of the soleus H-reflex in post-stroke patients. Post-activation depression, a presynaptic mechanism controlling the synaptic efficacy of Ia-motoneuron transmission, is involved in the pathophysiology of spasticity. Eight patients with chronic hemiplegia post-stroke presenting with lower limb spasticity and requiring botulinum toxin-type A injection in the ankle extensor muscle. Post-activation depression of soleus H-reflex assessed as frequency-related depression of H-reflex was investigated before and 3, 6 and 12 weeks after botulinum toxin-type A injections in the triceps surae. Post-activation depression was quantified as the ratio between H-reflex amplitude at 0.5 and 0.1 Hz. Post-activation depression of soleus H-reflex, which is reduced on the paretic leg, was affected 3 weeks after botulinum toxin-type A injection. Depending on the residual motor capacity of the post-stroke patients, post-activation depression was either restored in patients with preserved voluntary motor control or further reduced in patients with no residual voluntary control. Botulinum toxin treatment induces synaptic plasticity at the Ia-motoneuron synapse in post-stroke paretic patients, which suggests that the effectiveness of botulinum toxin-type A in post-stroke rehabilitation might be partly due to its central effects.

  18. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

    Science.gov (United States)

    Matthews, A M; Tarailo-Graovac, M; Price, E M; Blydt-Hansen, I; Ghani, A; Drögemöller, B I; Robinson, W P; Ross, C J; Wasserman, W W; Siden, H; van Karnebeek, C D

    2017-10-01

    Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally inherited copy gain of 1q21.1q21.2 resulting in a blended phenotype of both Spastic paraplegia 4 and 1q21.1 microduplication syndrome. We believe that the extreme phenotype observed is likely caused by the presence of cells which contain only mutant SPAST, but that the viability of the patient is possible due mosaicism of mutant alleles observed in different proportions across tissues. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. Fear of movement, passive coping, manual handling, and severe or radiating pain increase the likelihood of sick leave due to low back pain.

    Science.gov (United States)

    Dawson, Anna P; Schluter, Philip J; Hodges, Paul W; Stewart, Simon; Turner, Catherine

    2011-07-01

    Sick leave due to low back pain (LBP-SL) is costly and compromises workforce productivity. The fear-avoidance model asserts that maladaptive pain-related cognitions lead to avoidance and disuse, which can perpetuate ongoing pain. Staying home from work is an avoidant behavior, and hence pain-related psychological features may help explain LBP-SL. We examined the relative contribution of pain catastrophizing, fear of movement, and pain coping (active and passive) in LBP-SL in addition to pain characteristics and other psychosocial, occupational, general health, and demographic factors. Two-way interactions between age and gender and candidate exposures were also considered. Our sample comprised 2164 working nurses and midwives with low back pain in the preceding year. Binary logistic regression was performed on cross-sectional data by manual backward stepwise elimination of nonsignificant terms to generate a parsimonious multivariable model. From an extensive array of exposures assessed, fear of movement (women, odds ratio [OR]=1.05, 95% confidence interval [CI] 1.02-1.08; men, OR=1.17, 95% CI 1.05-1.29), passive coping (OR=1.07, 95% CI 1.04-1.11), pain severity (OR=1.61, 95% CI 1.50-1.72), pain radiation (women, OR=1.45, 95% CI 1.10-1.92; men, OR=4.13, 95% CI 2.15-7.95), and manual handling frequency (OR=1.03, 95% CI 1.01-1.05) increased the likelihood of LBP-SL in the preceding 12 months. Administrators and managers were less likely to report LBP-SL (OR=0.44, 95% CI 0.27-0.71), and age had a protective effect in individuals in a married or de facto relationship (OR=0.97, 95% CI 0.95-0.98). In summary, fear of movement, passive coping, frequent manual handling, and severe or radiating pain increase the likelihood of LBP-SL. Gender-specific responses to pain radiation and fear of movement are evident. Crown Copyright © 2011. Published by Elsevier B.V. All rights reserved.

  20. [The application of high-frequency and iTBS transcranial magnetic stimulation for the treatment of spasticity in the patients presenting with secondary progressive multiple sclerosis].

    Science.gov (United States)

    Korzhova, J E; Chervyakov, A V; Poydasheva, A G; Kochergin, I A; Peresedova, A V; Zakharova, M N; Suponeva, N A; Chernikova, L A; Piradov, M A

    Spasticity is considered to be a common manifestation of multiple sclerosis. Muscle relaxants are not sufficiently effective; more than that, some of them often cause a variety of adverse reactions. Transcranial magnetic stimulation (TMS) can be a promising new tool for the treatment of spasticity. The objective of the present study was to compare the effectiveness of the two TMS protocols: rhythmic (high-frequency) TMS (rTMS) and stimulation with the theta bursts (iTBS) in terms of their ability to reduce spasticity in the patients presenting with multiple sclerosis. Twenty two patients with secondary-progressive multiple sclerosis were pseudo-randomized into two groups: those in the first (high-frequency) group received the treatment with the use of rTMS therapy at a frequency of 10 Hz; the patients of the second group, underwent stimulation with the theta bursts (iTBS). All the patients received 10 sessions of either stimulation applied to the primary motor area (M1) of both legs. The effectiveness of TMS protocols was evaluated before therapy and after 10 sessions of stimulation based on the Modified Ashworth scale (MAS), the expanded disability status scale (EDSS), and the Kurtzke functional scale (Kfs). In addition, the patients were interviewed before treatment, after 10 rTMS sessions, immediately after and within 2 and 12 weeks after the completion of the treatment using questionnaires for the evaluation of spasticity (SESS) , fatigue, and dysfunction of the pelvic organs (severity of defecation and urination disorders), fatigue. The study has demonstrated a significant reduction in spasticity in the patients of both groups at the end of the TMS protocol based on the MAS scale. There was no significant difference between the outcomes of the two protocols. Both had positive effect on the concomitant «non-motor» symptoms (fatigue, dysfunction of the pelvic organs). High-frequency transcranial magnetic stimulation (10 sessions of rTMS therapy at a frequency

  1. Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers.

    Science.gov (United States)

    Tung, Y C; Tsau, Y K; Chu, L W; Young, C; Shen, Y Z

    2001-07-01

    Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes in the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. Cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.

  2. Percutaneous epidural neurostimulation in modulation of paraplegic spasticity. Six case reports.

    Science.gov (United States)

    Richardson, R R; Cerullo, L J; McLone, D G; Gutierrez, F A; Lewis, V

    1979-01-01

    Six cases of paraplegic, post-traumatic spasticity, alleviated by percutaneous epidural neurostimulation with temporary or permanent implanted neuroelectrodes from the L1 to L4 intervertebral levels are presented. Modulation of this spasticity and secondary beneficial physiological effects were achieved, including regulation of bowel regimens, production of sweating and piloerection below the level of the lesion, and morning erections. The main advantages of percutaneous epidural neurostimulation in modulating spasticity are the avoidance of destructive neurosurgical procedures, the regulation of secondary physiological and autonomic responses, the avoidance of antispasticity medications, and the reversibility of the neurostimulation procedure.

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

    Science.gov (United States)

    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

  4. SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India

    Directory of Open Access Journals (Sweden)

    M Suraj Menon

    2016-01-01

    Full Text Available Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS is a neurodegenerative disorder characterized by late infantile onset spastic ataxia and other neurological features. Initially described in the Charlevoix-Saguenay region of Quebec, Canada, it is being increasingly reported from many other countries. Here, we present the case of a 20-year-old male from South India, who presented with progressive ataxia, spasticity, and peripheral neuropathy with imaging features and genetic testing suggestive of SACS gene-related ARSACS. The phenotypic variability from other cases and occurrence in a geographically distinct region is stressed upon to alert the clinicians to consider ARSACS in progressive ataxias.

  5. Does botulinum toxin improve the function of the patient with spasticity after stroke? Toxina botulínica proporciona melhora funcional em pacientes com espasticidade secundária a acidente vascular cerebral?

    Directory of Open Access Journals (Sweden)

    Eduardo Cardoso

    2007-09-01

    Full Text Available Post-stroke spasticity is an important cause of disability in adults, due to muscle hyperactivity, which results in limb stiffness and muscle spasm. The prognosis for these patients depends on several features such as early management and adequate physical therapy to avoid muscle shortening, pain, and their consequences. Although several papers have shown that intramuscular injections of botulinum toxin type A (BT-A decreases spasticity in post-stroke patients, few authors have demonstrated functional improvement after this therapy. In order to assess if individualized BT-A injections improves upper limb function in post-stroke spastic patients, we prospectively followed 20 consecutive patients of 18 years of age or more with spastic hemiparesis secondary to stroke. Fulg-Meyer scale modified for upper limbs, measure of functional independence (MFI, Ashworth modified scale, and goniometry were applied in the beginning of the investigation and in the 16th and 32nd weeks. BT-A was applied at baseline and in the 16th week. All subjects were submitted to rehabilitation therapy. All patients showed improvement according to Ashworth modified scale and increase in the range of motion, which were sustained until the 32nd week (pEspasticidade secundária a acidente vascular cerebral (AVC é importante causa de incapacidade em adultos. O prognóstico para estes pacientes depende de vários fatores como tratamento precoce e terapia física adequada, evitando encurtamento muscular, dor e outras conseqüências. Vários estudos têm demonstrado que aplicacões intramusculares de toxina botulínica do tipo A (TxB-A reduzem a espasticidade após AVC, entretanto poucos autores observaram melhora funcional de membros superiores com esta terapêutica. Para determinar se aplicações individualizadas de TxB-A melhoram a função no membro superior espástico de pacientes com hemiparesia secundária a AVC, acompanhamos 20 pacientes com história de AVC entre 6 meses

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

    Science.gov (United States)

    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.

  7. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS......: Thirteen patients and 13 normal controls matched for age, gender and handedness underwent O15-labelled water positron emission tomography during (1) right ankle flexion-extension, (2) right shoulder flexion-extension and (3) rest. Within-group comparisons of movement vs. rest (simple main effects......, the supplementary motor areas and the right premotor cortex compared to controls. CONCLUSIONS: Motor cortical reorganisation may explain this result, but as no significant differences were recognised in the motor response of the unaffected limb, differences in functional demands should also be considered...

  8. Chronic meningoencephalomyelitis with spastic spinal paralysis. Case report

    Energy Technology Data Exchange (ETDEWEB)

    Mitsuyama, Y; Thompson, L R; Yuki, I; Tanemori, H

    1973-01-01

    A case of chronic meningoencephalomyelitis in a 48-year-old housewife is presented. The onset was characterized by spastic paralysis of the lower extremities. The course was progressive with repeated remissions and exacerbations, and the patient died approximately 7 years after the onset of disease. Laboratory tests showed slightly increased cell count in the spinal fluid, accelerated sedimentation rate, positive CRP and RA, and increased ASLO and gamma globulin levels. Neuropathologic examination revealed such changes as perivascular cellular infiltration, glial nodules, poorly demarcated demyelination, and recent necrosis in the spinal cord and basal ganglia. Only mild inflammatory findings were noted in the telencephalon and brain stem. The clinicopathologic findings in this case supported a diagnosis of chronic meningoencepalomyelitis which could not be classified as any known type of encephalomyelitis. (auth)

  9. Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.

    Science.gov (United States)

    Ginanneschi, Federica; Carluccio, Maria A; Mignarri, Andrea; Tessa, Alessandra; Santorelli, Filippo M; Rossi, Alessandro; Federico, Antonio; Dotti, Maria T

    2014-08-01

    Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus-response curve [input-output (I-O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I-O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools.

  10. Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

    Science.gov (United States)

    Roda, Ricardo H; Schindler, Alice B; Blackstone, Craig

    2017-11-01

    Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability. This further validates the pathogenicity of the p.Ser69Leu mutation and suggests that it may represent a mutation hot spot.

  11. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

    Science.gov (United States)

    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.

  12. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Conceição Bettencourt

    2017-11-01

    Full Text Available Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (WES. Results A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R; the unaffected parents were carriers of only one variant. Patients were affected with a combination of: (a febrile seizures with onset in the first year of life (followed by epileptic non-febrile seizures; (b distinctive facial appearance (e.g., coarse features, bulbous nose and hypomimia; (c developmental delay and intellectual disability; (d early-onset spastic weakness of the lower limbs; and (e cerebellar hypoplasia/atrophy on brain MRI. Conclusions We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.

  13. [Medical care of patients with spasticity following stroke : Evaluation of the treatment situation in Germany with focus on the use of botulinum toxin].

    Science.gov (United States)

    Kerkemeyer, L; Lux, G; Walendzik, A; Wasem, J; Neumann, A

    2017-08-01

    Upper limb spasticity is a common complication following stroke. Cohort studies found 19% of post-stroke patients had upper limb spasticity at 3 months and 38% of patients at 12 months. For focal spasticity, intramuscular injections of botulinum toxin are indicated. In Germany, it is assumed that patients with the described indication are undersupplied with botulinum toxin. The aim of the present study is to evaluate the medical care of patients with upper limb spasticity post-stroke with the focus on the use of botulinum toxin as one treatment option. A standardized questionnaire was developed and a postal survey of a representative national random sample of 800 neurologists to capture the actual medical care situation. The response rate amounted to 37% (n = 292). 59% of the neurologists surveyed had never used botulinum toxin. In total, 87% of neurologists noticed barriers regarding the use of botulinum toxin, where the amount of the doctor's remuneration in 40% and the lack of reimbursement of costs in off-label use in 60% were the most commonly used answers. The achievement of an advanced training in using botulinum toxin was also stated as a general obstacle for resident neurologists. Due to a response rate of 37% for the postal survey a selection bias cannot be excluded. Although botulinum toxin is recommended in the national treatment guidelines, many neurologists do not use botulinum toxin. The reasons can be seen from the barriers described.

  14. The effect of Sativex in neuropathic pain and spasticity in spinal cord injury

    DEFF Research Database (Denmark)

    Andresen, Sven Robert; Hansen, Rikke Bod Middelhede; Johansen, Inger Lauge

    2014-01-01

    Introduction: Neuropathic pain and spasticity after spinal cord injury represent significant but still unresolved problems, which cause considerable suffering and reduced quality of life for patients with spinal cord injury. Treatment of neuropathic pain and spasticity is complicated and patients...... often receive incomplete relief from present available and recommended treatment. Cannabinoids has shown efficacy on both neuropathic pain and spasticity in patients with spinal cord injury, but the studies one the topic has been too small to make a general conclusion for patients with spinal cord...... injury. Aims: To investigate the effect of Sativex (cannabinoid agonist given as an oral mucosal spray), on neuropathic pain and spasticity in patients with spinal cord injury. Methods: A randomized, double-blind, placebo-controlled crossover study. We will include 30 patients with neuropathic pain...

  15. A randomized controlled trial of surface neuromuscular electrical stimulation applied early after acute stroke: effects on wrist pain, spasticity and contractures.

    Science.gov (United States)

    Malhotra, Shweta; Rosewilliam, Sheeba; Hermens, Hermie; Roffe, Christine; Jones, Peter; Pandyan, Anand David

    2013-07-01

    To investigate effects of surface neuromuscular electrical stimulation applied early after stroke to the wrist and finger extensor muscles on upper limb pain, spasticity and contractures in patients with no functional arm movement. Secondary analysis from a Phase II, randomized, controlled, single-blind study. An acute hospital stroke unit. Patients with no useful arm function within six weeks of a first stroke. Patients were randomized to treatment (30-minute sessions of surface neuromuscular stimulation to wrist and finger extensors and 45 minutes of physiotherapy) or control (45 minutes of physiotherapy) groups. All patients had access to routine care. Treatment was given for six weeks from recruitment. Ninety patients (49% male, median age 74 years (range 32-98), median time since stroke onset three weeks (range one to six weeks)) were included. Treatment compliance was variable (mean 28%). The treatment prevented the development of pain (mean difference in rate of change 0.4 units/week, 95% confidence interval (CI) 0.09 to 0.6). Treatment may have prevented a deterioration in contractures (quantified by measuring passive range of movement) in severely disabled patients (mean rate of deterioration -0.5 deg/week; 95% CI -0.9 to -0.06). There were no significant changes in stiffness and spasticity. Surface neuromuscular electrical stimulation reduces pain in stroke patients with a non-functional arm. There was some evidence that treatment with electrical stimulation was beneficial in reducing contractures. Treatment had no effect on spasticity.

  16. Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

    Science.gov (United States)

    Martinelli, Paola; Cherukuri, Praveen F.; Teer, Jamie K.; Hansen, Nancy F.; Cruz, Pedro; Mullikin for the NISC Comparative Sequencing Program, James C.; Blakesley, Robert W.; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I.; Langer, Thomas; Gahl, William A.; Toro, Camilo

    2011-01-01

    We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other “mitochondrial” features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID:22022284

  17. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

    Directory of Open Access Journals (Sweden)

    Tyler Mark Pierson

    2011-10-01

    Full Text Available We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7. Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28, a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

  18. Outcomes in spasticity after repetitive transcranial magnetic and transcranial direct current stimulations

    OpenAIRE

    Gunduz, Aysegul; Kumru, Hatice; Pascual-Leone, Alvaro

    2014-01-01

    Non-invasive brain stimulations mainly consist of repetitive transcranial magnetic stimulation and transcranial direct current stimulation. Repetitive transcranial magnetic stimulation exhibits satisfactory outcomes in improving multiple sclerosis, stroke, spinal cord injury and cerebral palsy-induced spasticity. By contrast, transcranial direct current stimulation has only been studied in post-stroke spasticity. To better validate the efficacy of non-invasive brain stimulations in improving ...

  19. Effects of Prolonged Standing on Gait in Children with Spastic Cerebral Palsy

    Science.gov (United States)

    Salem, Yasser; Lovelace-Chandler, Venita; Zabel, Reta J.; McMillan, Amy Gross

    2010-01-01

    The purpose of this study was to determine the effects of prolonged standing on gait characteristics in children with spastic cerebral palsy. Six children with spastic cerebral palsy participated in this study with an average age of 6.5 years (SD = 2.5, range = 4.0-9.8 years). A reverse baseline design (A-B-A) was used over a 9-week period. During…

  20. Watsu approach for improving spasticity and ambulatory function in hemiparetic patients with stroke.

    Science.gov (United States)

    Chon, Seung Chul; Oh, Duck Won; Shim, Jae Hun

    2009-06-01

    This study reports the effect of Watsu as rehabilitation method for hemiparetic patients with stroke. Watsu consisted of 40 treatment sessions for 8 weeks, delivered underwater or at water surface level, it applied in three patients. Outcome measures included tools for assessing spasticity and ambulatory function. All patients showed decreased scores in the TAS and RVGA after Watsu application. Watsu was helpful in controlling spasticity and improving ambulatory function of the patients with hemiparesis.

  1. Effects of interactive games on motor performance in children with spastic cerebral palsy

    OpenAIRE

    AlSaif, Amer A.; Alsenany, Samira

    2015-01-01

    [Purpose] Motor control and muscle strength impairments are the prime reasons for motor behavior disorders in children with spastic cerebral palsy. These impairments lead to histological changes in muscle growth and the learning of motor skills. Therefore, such children experience reduced muscle force generation and decreased muscle flexibility. We investigated the effect of training with Nintendo Wii Fit games on motor performance in children with spastic cerebral palsy. [Subjects and Method...

  2. The use of transcutaneous electrical nerve stimulation (tens in the treatment of the spasticity - a review

    Directory of Open Access Journals (Sweden)

    Dahyan Wagner da Silva Silveira

    2008-01-01

    Full Text Available This study it has as objective to argue the job of TENS in the spasticity, observing the main parameters, form of application and the mechanism for which TENS it acts in the spasticity. One is about a bibliographical revision based in the literature specialized selected scientific articles through search in the data base of scielo and of bireme, from the sources Medline and Lilacs. The studies found on the job of TENS in the spasticity, had pointed mainly that this chain reduces the spasticity significantly, in lower degrees. The stimulation electrical parameters had disclosed that TENS it (about 100Hz of raised frequency provides one better effect in the reduction of the spasticity. The types of TENS more used had been the conventional and the soon-intense one, however some studies had not presented the used duration of pulse, limit the determination of one better modality of TENS. Few studies had explained the mechanism of performance of the current related one. The ones that had made it, had pointed the release of opioid endogenous (Dynorphins for the central nervous system as main mechanism of performance, however this contrasts with the neurophysiologic bases of the high-frequency stimulation, that demonstrated better resulted in the joined studies. Still it is necessary more studies on the job of this modality of stimulation electrical in the spasticity, since important parameters as duration of pulse, time of application, numbers of attendance and performance mechanism remains without scientific evidence.

  3. Severe isolated tricuspid insufficiency due to tricuspid papillary muscle rupture after a fall from a horse: treatment with port access minimally invasive cardiac surgery.

    Science.gov (United States)

    Öz, Kürsad; Mayeran, Yousef; Van Praet, Frank; Codens, Jose; Vanerman, Hugo

    2014-04-01

    We report on the successful treatment of tricuspid valve insufficiency due to blunt chest injury using port-access minimally invasive cardiac surgery. The optimal surgical treatment of traumatic valvular insufficiency is discussed, including a brief review of the relevant literature.

  4. Muscle specific changes in length-force characteristics of the calf muscles in the spastic Han-Wistar rat

    DEFF Research Database (Denmark)

    Olesen, Annesofie Thorup; Jensen, Bente Rona; Uhlendorf, Toni L

    2014-01-01

    length, passive stiffness and passive force of spastic GA were decreased whereas those of spastic SO were increased. No mechanical interaction between the calf muscles and TA was found. As GA was lengthened, force from SO and PL declined despite a constant muscle-tendon unit length of SO and PL. However......, the extent of this interaction was not different in the spastic rats. In conclusion, the effects of spasticity on length-force characteristics were muscle specific. The changes seen for GA and PL muscles are consistent with the changes in limb mechanics reported for human patients. Our results indicate......The purpose of the present study was to investigate muscle mechanical properties and mechanical interaction between muscles in the lower hindlimb of the spastic mutant rat. Length-force characteristics of gastrocnemius (GA), soleus (SO) and plantaris (PL) were assessed in anesthetized spastic...

  5. Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

    Science.gov (United States)

    Servelhere, K R; Faber, I; Saute, J A M; Moscovich, M; D'Abreu, A; Jardim, L B; Teive, H A G; Lopes-Cendes, I; Franca, M C

    2016-02-01

    Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue scores than controls (31.0 ± 16.5 vs. 14.5 ± 16.0, P = 0.002) as well as pain (3.4 ± 2.7 vs. 1.0 ± 1.6, P = 0.001) and depression (12.7 ± 8.9 vs. 4.4 ± 3.8, P depression and possibly with disease severity (P = 0.008 and 0.07, respectively). Fatigue, pain and depression are frequent and often severe manifestations in patients with SPG4-HSP. © 2016 EAN.

  6. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

    NARCIS (Netherlands)

    Zankl, A.; Elakis, G.; Susman, R.D.; Inglis, G.; Gardener, G.; Buckley, M.F.; Roscioli, T.

    2008-01-01

    We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in

  7. Intrathecal Versus Oral Baclofen: A Matched Cohort Study of Spasticity, Pain, Sleep, Fatigue, and Quality of Life.

    Science.gov (United States)

    McCormick, Zachary L; Chu, Samuel K; Binler, Danielle; Neudorf, Daniel; Mathur, Sunjay N; Lee, Jungwha; Marciniak, Christina

    2016-06-01

    Baclofen commonly is used to manage spasticity caused by central nervous system lesions or dysfunction. Although both intrathecal and oral delivery routes are possible, no study has directly compared clinical outcomes associated with these 2 routes of treatment. To compare spasticity levels, pain, sleep, fatigue, and quality of life between individuals receiving treatment with intrathecal versus oral baclofen. Cross-sectional matched cohort survey study. Urban academic rehabilitation outpatient clinics. Adult patients with spasticity, treated with intrathecal or oral baclofen for at least 1 year, matched 1:1 for age, gender, and diagnosis. Standardized surveys were administered during clinic appointments or by telephone. Surveys included the Penn Spasm Frequency Scale, Brief Pain Inventory, Epworth Sleepiness Scale, Fatigue Severity Scale, Life Satisfaction Questionnaire, and Diener Satisfaction with Life Scale. A total of 62 matched subjects were enrolled. The mean (standard deviation [SD]) age was 46 (11) years with a mean duration of intrathecal baclofen or oral baclofen treatment of 11 (6) and 13 (11) years, respectively. There were 40 (64%) male and 22 (36%) female subjects. Primary diagnoses included spinal cord injury (n = 38), cerebral palsy (n = 10), stroke (n = 10), and multiple sclerosis (n = 4). The mean (SD) dose of intrathecal and oral baclofen at the time of survey were 577 (1429) μg/day and 86 (50) mg/day, respectively. Patients receiving intrathecal compared with oral baclofen experienced significantly fewer (1.44 [0.92] versus 2.37 [1.12]) and less severe (1.44 [0.92] versus 2.16 [0.83]) spasms, respectively as measured by the Penn Spasm Frequency Scale (P life between groups. Subanalysis of patients with SCI mirrored results of the entire study sample, with significant decreases in spasm frequency and severity associated with intrathecal compared to oral baclofen (P < .01; P < .01), but no other between group differences. The mean (SD) percent

  8. Temporomandibular joint dislocation due to acute propranolol intoxication

    Directory of Open Access Journals (Sweden)

    Abbas Aghabiklooei

    2010-07-01

    Full Text Available Abbas Aghabiklooei1, Homan Elahi2, Babak Mostafazadeh31Department of Medical Toxicology and Forensic Medicine, Iran University of Medical Sciences, Tehran, Iran; 2Firouzgar Hospital, Department of ENT, Tehran, Iran; 3Department of Medical Toxicology and Forensic Medicine, Shaheed Beheshty University of Medical Sciences, Tehran, IranAbstract: Temporomandibular joint (TMJ dislocation has not previously been reported as a complication of beta-blocker toxicity. We are reporting two cases of TMJ dislocation resulted from acute severe intoxication with pure propranolol (PPL for the first time. Bilateral TMJ dislocation happened in two patients who were admitted to intensive care unit with diagnosis of severe acute PPL toxicity. Clinical diagnosis of TMJ dislocation was obtained by physical examination. Successful reduction was performed for both patients without subsequent recurrence in two weeks following hospital discharge. Both of our subjects had no previous history of lower jaw dislocation. There was not any risk factor for dislocation such as convulsion during admission period, recent face trauma, or oral manipulation by the medical team. This study showed that TMJ dislocation may occur after severe acute PPL toxicity probably due to spastic contraction of the lateral pterygoid muscle. This is against previously mentioned hypothesis that stated masseteric muscles contraction as the main cause of a bilateral dislocated TMJ.Keywords: propranolol, toxicity, temporomandibular joint dislocation

  9. Procedure-Oriented Torsional Anatomy of the Hand for Spasticity Injection.

    Science.gov (United States)

    John, Joslyn; Cianca, John; Chiou-Tan, Faye; Pandit, Sindhu; Furr-Stimming, Erin; Taber, Katherine H

    To provide musculoskeletal ultrasound (MSKUS) images of hand anatomy in the position of hemiparetic flexion as a reference for spasticity injections. After a stroke, spasticity can result in anatomic distortion of the hand. Spasticity may require treatment with botulinum toxin or phenol injections. Anatomic distortion may decrease the accuracy of injections. Standard anatomic references are of limited utility because they are not in this spastic hemiparetic position. There presently is no anatomic reference in the literature for these spastic postures. This study is part three of a series examining torsional anatomy of the body. Ultrasound (US) images were obtained in a healthy subject. The muscles examined included the lumbricals and the flexor pollicis brevis. A marker dot was placed at each dorsal and palmar anatomic injection site for these muscles. The US probe was placed on these dots to obtain a cross-sectional view. A pair of US images was recorded with and without power Doppler imaging: the first in anatomic neutral and second in hemiparetic spastic positions. In addition, a video recording of the movement of the muscles during this rotation was made at each site. On the palmar view, the lumbricals rotated medially. On dorsal view, the lumbricals can be seen deep to the dorsal interossei muscles, with spastic position, and they become difficult to identify. The flexor pollicis brevis (FPB) muscle contracts with torsion, making abductor pollicis brevis (APB) predominately in view. The anatomic location of the lumbrical muscles makes them difficult to inject even with ultrasound guidance. However, recognizing the nearby digital vasculature allows for improved identification of the musculature for injection purposes. The FPB muscle also can be identified by its adjacent radial artery lateral to the flexor pollicus longus tendon. Normal anatomy of hand can become distorted in spastic hemiparesis. Diagnostic ultrasound is able to discern these anatomic

  10. Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene.

    Science.gov (United States)

    Ok Bozkaya, İkbal; Yaralı, Neşe; Işık, Pamir; Ünsal Saç, Rukiye; Tavil, Betül; Tunç, Bahattin

    2015-06-01

    Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

  11. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

    DEFF Research Database (Denmark)

    van Kuilenburg, André B P; Meijer, Judith; Maurer, Dirk

    2017-01-01

    Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). Genetic variations in DPD have emerged as predictive risk factors for severe fluoropyrimidine toxicity. Here, we report novel and rare genetic variants underlying DPD deficiency...... in 9 cancer patients presenting with severe fluoropyrimidine-associated toxicity. All patients possessed a strongly reduced DPD activity, ranging from 9 to 53% of controls. Analysis of the DPD gene (DPYD) showed the presence of 21 variable sites including 4 novel and 4 very rare aberrations: 3 missense...... of exon 4 immediately upstream of the mutated splice-donor site in the process of DPD pre-mRNA splicing. A lethal toxicity in two DPD patients suggests that fluoropyrimidines combined with other therapies such as radiotherapy might be particularly toxic for DPD deficient patients. Our study advocates...

  12. An in vitro simulation model to assess the severity of edge loading and wear, due to variations in component positioning in hip joint replacements.

    Science.gov (United States)

    O'Dwyer Lancaster-Jones, O; Williams, S; Jennings, L M; Thompson, J; Isaac, G H; Fisher, J; Al-Hajjar, M

    2017-09-23

    The aim of this study was to develop a preclinical in vitro method to predict the occurrence and severity of edge loading condition associated with the dynamic separation of the centres of the head and cup (in the absence of impingement) for variations in surgical positioning of the cup. Specifically, this study investigated the effect of both the variations in the medial-lateral translational mismatch between the centres of the femoral head and acetabular cup and the variations in the cup inclination angles on the occurrence and magnitude of the dynamic separation, the severity of edge loading, and the wear rate of ceramic-on-ceramic hip replacement bearings in a multi-station hip joint simulator during a walking gait cycle. An increased mismatch between the centres of rotation of the femoral head and acetabular cup resulted in an increased level of dynamic separation and an increase in the severity of edge loading condition which led to increased wear rate in ceramic-on-ceramic bearings. Additionally for a given translational mismatch, an increase in the cup inclination angle gave rise to increased dynamic separation, worst edge loading conditions, and increased wear. To reduce the occurrence and severity of edge loading, the relative positions (the mismatch) of the centres of rotation of the head and the cup should be considered alongside the rotational position of the acetabular cup. This study has considered the combination of mechanical and tribological factors for the first time in the medial-lateral axis only, involving one rotational angle (inclination) and one translational mismatch. © 2017 The Authors Journal of Biomedical Materials Research Part B: Applied Biomaterials Published by Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 2017. © 2017 The Authors Journal of Biomedical Materials Research Part B: Applied Biomaterials Published by Wiley Periodicals, Inc.

  13. Air exposure behavior of the semiterrestrial crab Neohelice granulata allows tolerance to severe hypoxia but not prevent oxidative damage due to hypoxia-reoxygenation cycle.

    Science.gov (United States)

    de Lima, Tábata Martins; Geihs, Márcio Alberto; Nery, Luiz Eduardo Maia; Maciel, Fábio Everton

    2015-11-01

    The air exposure behavior of the semi-terrestrial crab Neohelice granulata during severe hypoxia was studied. This study also verified whether this behavior mitigates possible oxidative damage, namely lipoperoxidation, caused by hypoxia and reoxygenation cycles. The lethal time for 50% of the crabs subjected to severe hypoxia (0.5 mgO2 · L(-1)) with free access to air was compared to that of crabs subjected to severe hypoxia without access to air. Crabs were placed in aquaria divided into three zones: water (when the animal was fully submersed), land (when the animal was completely emerged) and intermediate (when the animal was in contact with both environments) zones. Then the crabs were held in this condition for 270 min, and the time spent in each zone was recorded. Lipid peroxidation (LPO) damage to the walking leg muscles was determined for the following four experimental conditions: a--normoxic water with free access to air; b--hypoxic water without access to air; c--hypoxic water followed by normoxic water without air access; and d--hypoxic water with free access to air. When exposed to hypoxic water, N. granulata spent significantly more time on land, 135.3 ± 17.7 min, whereas control animals (exposed to normoxic water) spent more time submerged, 187.4 ± 20.2 min. By this behavior, N. granulata was able to maintain a 100% survival rate when exposed to severe hypoxia. However, N. granulata must still return to water after periods of air exposure (~ 14 min), causing a sequence of hypoxia/reoxygenation events. Despite increasing the survival rate, hypoxia with air access does not decrease the lipid peroxidation damage caused by the hypoxia and reoxygenation cycle experienced by these crabs.

  14. Altered Pathogenesis of Porcine Respiratory Coronavirus in Pigs due to Immunosuppressive Effects of Dexamethasone: Implications for Corticosteroid Use in Treatment of Severe Acute Respiratory Syndrome Coronavirus▿

    OpenAIRE

    Jung, Kwonil; Alekseev, Konstantin P.; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N.; Saif, Linda J.

    2007-01-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] ...

  15. Identification and Epidemiology of Severe Respiratory Disease due to Novel Swine-Origin Influenza A (H1N1 Virus Infection in Alberta

    Directory of Open Access Journals (Sweden)

    George Zahariadis

    2010-01-01

    Full Text Available BACKGROUND: In March 2009, global surveillance started detecting cases of influenza-like illness in Mexico. By mid-April 2009, two pediatric patients were identified in the United States who were confirmed to be infected by a novel influenza A (H1N1 strain. The present article describes the first identified severe respiratory infection and the first death associated with pandemic H1N1 (pH1N1 in Canada.

  16. Simulation of a severe accident at a typical PWR due to break of a hot leg ECCS line using MELCOR code

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Min; Sabundjian, Gaianê, E-mail: smlee@ipen.br, E-mail: gdjian@ipen.br [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil)

    2017-11-01

    The aim of this work was to simulate a severe accident at a typical PWR caused by break in Emergency Core Cooling System (ECCS) line of a hot leg using the MELCOR code. The nodalization of this typical PWR was elaborated by the Global Research for Safety (GRS) and provided to the CNEN for analysis of the severe accidents at the Angra 2, which is similar to that PWR. Although both of them are not identical the results obtained for that typical PWR may be valuable because of the lack of officially published calculation for Angra 2. Relevant parameters such as pressure, temperature and water level in various control volumes after the break in the hot leg were calculated as well as degree of core degradation and hydrogen concentration in containment. The result obtained in this work could be considered satisfactory in the sense that the physical phenomena reproduced by the simulation were in general very reasonable, and most of the events occurred within acceptable time intervals. However, the uncertainty analysis was not carried out in this work. Furthermore, this scenario could be used as a base for the study of the effectiveness of some preventive or/and mitigating measures of Severe Accident Management (SAMG) by adding associated conditions for each measure in its input. (author)

  17. Simulation of a severe accident at a typical PWR due to break of a hot leg ECCS line using MELCOR code

    International Nuclear Information System (INIS)

    Lee, Seung Min; Sabundjian, Gaianê

    2017-01-01

    The aim of this work was to simulate a severe accident at a typical PWR caused by break in Emergency Core Cooling System (ECCS) line of a hot leg using the MELCOR code. The nodalization of this typical PWR was elaborated by the Global Research for Safety (GRS) and provided to the CNEN for analysis of the severe accidents at the Angra 2, which is similar to that PWR. Although both of them are not identical the results obtained for that typical PWR may be valuable because of the lack of officially published calculation for Angra 2. Relevant parameters such as pressure, temperature and water level in various control volumes after the break in the hot leg were calculated as well as degree of core degradation and hydrogen concentration in containment. The result obtained in this work could be considered satisfactory in the sense that the physical phenomena reproduced by the simulation were in general very reasonable, and most of the events occurred within acceptable time intervals. However, the uncertainty analysis was not carried out in this work. Furthermore, this scenario could be used as a base for the study of the effectiveness of some preventive or/and mitigating measures of Severe Accident Management (SAMG) by adding associated conditions for each measure in its input. (author)

  18. Tropical spastic paraparesis and HTLV-1 associated myelopathy: clinical, epidemiological, virological and therapeutic aspects.

    Science.gov (United States)

    Gessain, A; Mahieux, R

    2012-03-01

    In 1980, Human T cell leukemia/lymphoma virus type 1 (HTLV-1) was the first oncogenic human retrovirus to be discovered. HTLV-1 belongs to the Retroviridae family, the Orthoretrovirinae subfamily and to the deltaretrovirus genus. HTLV-1 preferentially infects CD4(+) lymphoid cells in vivo. Three molecules have been identified for binding and/or entry of HTLV-1: heparan sulfate proteoglycans, neuropilin-1, and glucose transporter 1. An efficient transfer of the virus from an infected cell to a target cell can occur through the formation of a viral synapse and/or by virofilm structure. As for all retroviruses, HTLV-1 genome possesses three major ORFs (gag, pol and env) encoding the structural and enzymatic proteins. HTLV-1 encodes also some regulatory and auxillary proteins including the tax protein with transforming activities and the HBZ protein which plays a role in the proliferation and maintenance of the leukemic cells. HTLV-1 is present throughout the world with clusters of high endemicity including mainly Southern Japan, the Caribbean region, areas in South America and in intertropical Africa. The worldwide HTLV-1 infected population is estimated to be around 10-20 million. HTLV-1 has three modes of transmission: (1): mother to child, mainly linked to prolonged breast-feeding; (2): sexual, mainly occurring from male to female and (3): contaminated blood products. HTLV-1 possesses a remarkable genetic stability. HTLV-1 is the etiological agent of mainly two severe diseases: a malignant T CD4(+) cell lymphoproliferation, of very poor prognosis, named Adult T cell Leukemia/Lymphoma (ATLL), and a chronic neuro-myelopathy named Tropical spastic paraparesis/HTLV-1 Associated Myelopathy (TSP/HAM). The lifetime risk among HTLV-1 carriers is estimated to be around 0.25 to 3%. TSP/HAM mainly occurs in adults, with a mean age at onset of 40-50 years and it is more common in women than in men. Blood transfusion is a major risk factor for TSP/HAM development. Clinically

  19. Treatment of Severely Resorbed Maxilla Due to Peri-Implantitis by Guided Bone Regeneration Using a Customized Allogenic Bone Block: A Case Report

    Directory of Open Access Journals (Sweden)

    Oliver Blume

    2017-10-01

    Full Text Available The objective of this case report is to introduce a customized CAD/CAM freeze-dried bone allograft (FDBA block for its use in Guided Bone Regeneration (GBR procedures for severely deficient maxillary bones. Additionally, a special newly developed remote incision technique is presented to avoid wound dehiscence. The results show optimal integration behavior of the FDBA block after six months and the formation of new vital bone. Thus, the results of the present case report confirm the use of the customized CAD/CAM bone block for augmentation of complex defects in the maxillary aesthetic zone as a successful treatment concept.

  20. Microstructural and superficial modification in a Cu-Al-Be shape memory alloy due to superficial severe plastic deformation under sliding wear conditions

    Science.gov (United States)

    Figueroa, C. G.; Garcia-Castillo, F. N.; Jacobo, V. H.; Cortés-Pérez, J.; Schouwenaars, R.

    2017-05-01

    Stress induced martensitic transformation in copper-based shape memory alloys has been studied mainly in monocrystals. This limits the use of such results for practical applications as most engineering applications use polycristals. In the present work, a coaxial tribometer developed by the authors was used to characterise the tribological behaviour of polycrystalline Cu-11.5%Al-0.5%Be shape memory alloy in contact with AISI 9840 steel under sliding wear conditions. The surface and microstructure characterization of the worn material was conducted by conventional scanning electron microscopy and atomic force microscopy, while the mechanical properties along the transversal section were measured by means of micro-hardness testing. The tribological behaviour of Cu-Al-Be showed to be optimal under sliding wear conditions since the surface only presented a slight damage consisting in some elongated flakes produced by strong plastic deformation. The combination of the plastically modified surface and the effects of mechanically induced martensitic transformation is well-suited for sliding wear conditions since the modified surface provides the necessary strength to avoid superficial damage while superelasticity associated to martensitic transformation is an additional mechanism which allows absorbing mechanical energy associated to wear phenomena as opposed to conventional ductile alloys where severe plastic deformation affects several tens of micrometres below the surface.

  1. Oral Rehabilitation of Adult Edentulous Siblings Severely Lacking Alveolar Bone Due to Ectodermal Dysplasia: A Report of 2 Clinical Cases and a Literature Review.

    Science.gov (United States)

    Wu, Yiqun; Zhang, Chenping; Squarize, Cristiane H; Zou, Duohong

    2015-09-01

    The oral conditions of adult edentulous patients with ectodermal dysplasia (ED) often lead to decreased physical and psychological health, and the negative effects can become as extreme as social and psychological isolation. However, restoring oral function of adult edentulous patients with ED using zygomatic implants (ZIs) or conventional implants (CIs) remains challenging for dentists because of the severe atrophy of these patients' alveolar ridges. This report describes 2 cases of adult edentulous siblings with ED; they exhibited severe alveolar bone atrophy and were treated with ZIs and CIs as bases to augment the bone in their anterior jaws. For these patients, bone augmentation was completed with an autogenous fibular graft. Although there was mild evidence of bone graft resorption in the maxilla, the bone augmentation procedures were successful in the 2 patients. Effective osseointegration of the implants was obtained. After placement, the functional and esthetic results of the oral rehabilitation were acceptable. More importantly, restoration of the patients' oral function enhanced their self-confidence and self-esteem. Therefore, restoring oral function in adult patients with ED and edentulous jaws using ZIs and CIs as the bases for bone augmentation is an effective approach. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

  2. Sudden unexpected infant death (SUDI in a newborn due to medium chain acyl CoA dehydrogenase (MCAD deficiency with an unusual severe genotype

    Directory of Open Access Journals (Sweden)

    Lovera Cristina

    2012-10-01

    Full Text Available Abstract Medium chain acyl CoA dehydrogenase deficiency (MCAD is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23 mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.

  3. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

    Science.gov (United States)

    de Bruin, Christiaan; Finlayson, Courtney; Funari, Mariana F A; Vasques, Gabriela A; Lucheze Freire, Bruna; Lerario, Antonio M; Andrew, Melissa; Hwa, Vivian; Dauber, Andrew; Jorge, Alexander A L

    2016-01-01

    Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family. Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2. This variant was previously reported in a patient with GD2 and associated cardiac valvulopathy and hepatomegaly. Detailed clinical re-examination, cardiac and skeletal imaging did not reveal any abnormalities in P1 or P2 other than mild hip dysplasia. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. © 2016 S. Karger AG, Basel.

  4. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances.

  5. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

    Science.gov (United States)

    Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

    2016-10-01

    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. MRI in spastic cerebral palsy - correlations with motor development and mental retardation

    International Nuclear Information System (INIS)

    Kulal, W.; Sobaniec, W.; Kubas, B.

    2004-01-01

    The introduction of magnetic resonance (MR) has improved our understanding of the pathophysiology and early diagnosis of cerebral palsy (CP). The aim of this study was to evaluate types of lesions on MR in children with CP in correlations with motor development, cognitive impairment and risk factors. Twenty-two children aged 4-17 years (boys 12, girls 10) with CP diplegia - 16 and tetraplegia - 6 were studied. Routine MR images were performed in all children. Results: All patients had periventricular leukomalacia (PVL) in MR findings. In addition three different degrees of MRI lesion patterns were defined: a mild pattern (nucleus lentiformis and thalamus) moderate (nucleus lentiformis, thalamus and pericentral region)and a severe pattern (nucleus lentiformis , thalamus, pericentral region and hippocampus). Significant correlations of the MR findings with the motor development and mental retardation were found. No significant relationships between the MR findings and the etiological factors (prematurity, low birthweight, Apgar score, sepsis, seizures, pre-eclamsia , and gestational age) were noted. MR imaging is useful in the evaluation structural abnormalities in the brains in the children with spastic diplegia and tetraplegia. (author)

  7. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

    Science.gov (United States)

    Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Hisham S; Verma, Ishwar C; Puri, Ratna D; Alaiya, Ayodele A; Rizzo, William B; Alkuraya, Fowzan S

    2011-12-09

    Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity-a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. [How to make regional medicine revive from the medical crisis or collapse due to the severe paucity of medical doctors: a plan with "the magnet hospital"].

    Science.gov (United States)

    Itoh, Tsunetoshi

    2009-01-01

    In 2002-2003, the practice of doctors lending their names to appear as "staff" of hospitals became known. Problems regarding funds from public hospitals were also revealed. Tohoku University asked regional societies how to improve the medical situation, and redefined its responsibilities. The Educational Development Center for Local Medicine and Department of Local Medical Service System were set up (2005-2008). A severe shortage of medical doctors prevails in Japan: the number of doctors per population is at the 4th lowest among OECD countries, and the number per hospital bed is the lowest. We have no nursing homes whose beds are not counted as hospital beds. The number of faculty staff in Japanese medical schools is 1/3 to those of Western countries. The reported number of doctors working in hospitals and offices surpasses that by census for medical doctors by >40,000. Japanese doctors work for >60 hours per week. I propose essential plans to improve Japanese situation for medical service: 1. Immediately increase the number of doctors by at least 50%. Based on our calculation, we need 450,000 doctors. 2. When the shortage of doctors is severe, establish a magnet hospital with c.a. 500 beds for every 200,000 population, capable of treating highly emergency patients and attracting doctors who need medical training. Hospitals should not belong to each city or town. 3. Establish a comprehensive organization to nurture doctors on a long-term basis. It should consist of a medical school, hospitals, and the prefectural government. It should help doctors to move between hospitals, and be responsible both for designing doctors' career paths and for allocating them appropriately.

  9. DRG Spinal Cord Stimulation as Solution for Patients With Severe Pain Due to Anterior Cutaneous Nerve Entrapment Syndrome: A Case Series.

    Science.gov (United States)

    Mol, Frédérique Mathilde Ulrike; Roumen, Rudi M H

    2018-04-01

    Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) is a debilitating neuropathic pain condition. A small portion of patients do not respond to any currently available treatment modalities. These patients, often young women, might benefit from targeted spinal cord stimulation of the dorsal root ganglion (DRG). This retrospective case series describes five ACNES patients who were referred from a Dutch dedicated tertiary referral center to collaborating sites with extensive experience in DRG stimulation to be implanted with a DRG Axium System (St. Jude/Abbott, IL, USA) in the period of 2013-2016. Numeric pain rating scores at routine 6- and 12-month follow-up visits were analyzed. Three patients experienced >50% pain reduction at 12 months follow-up. Four patients experienced device-related complications, such as lead dislocation, lead breakage, pain at the battery site, and overstimulation. This case series suggests DRG spinal cord stimulation can be safe and effective for some patients with persistent pain due to ACNES. © 2017 International Neuromodulation Society.

  10. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

    Science.gov (United States)

    Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

    2016-10-01

    Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  11. Is POEM the Answer for Management of Spastic Esophageal Disorders? A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Khan, Muhammad Ali; Kumbhari, Vivek; Ngamruengphong, Saowanee; Ismail, Amr; Chen, Yen-I; Chavez, Yamile Haito; Bukhari, Majidah; Nollan, Richard; Ismail, Mohammad Kashif; Onimaru, Manabu; Balassone, Valerio; Sharata, Ahmed; Swanstrom, Lee; Inoue, Haruhiro; Repici, Alessandro; Khashab, Mouen A

    2017-01-01

    Spastic esophageal disorders (SEDs) include spastic achalasia (type III), diffuse esophageal spasm (DES), and nutcracker/jackhammer esophagus (JH). Per-oral endoscopic myotomy (POEM) has demonstrated efficacy and safety in the treatment of achalasia. Recently, POEM has been indicated for the treatment of SEDs. We conducted a systematic review and meta-analysis to determine the clinical success and safety of POEM in SEDs. We searched several databases from 01/01/2007 to 01/10/2016 to identify studies (with five or more patients) on POEM for the treatment of SEDs. Weighted pooled rates (WPRs) for clinical success and adverse events (AEs) were calculated for all SEDs. Clinical success was defined as Eckardt scores of ≤3 and/or improvement in severity of dysphagia based on achalasia disease-specific health-related quality of life questionnaire. The WPRs for clinical success and AEs were analyzed using fixed- or random-effects model based on heterogeneity. The proportionate difference in clinical success and post-procedure adverse event rates among individual types of SEDs was also calculated. A total of eight observational studies with 179 patients were included in the final analysis. Two studies were of good quality and six were of fair quality based on the National Institutes of Health quality assessment tool. The WPR with 95% confidence interval (CI) for cumulative clinical success of POEM in all SEDs was 87% (78, 93%), I 2  = 37%. The total number of patients for individual disorders, i.e., type III achalasia, JH, and DES, was 116, 37, and 18, respectively. The WPRs for clinical success of POEM for type III achalasia, DES, and JH were 92, 88, and 72%, respectively. Proportion difference of WPR for clinical success was significantly higher for type III achalasia in comparison with JH (20%, P = 0.01). The WPR with 95% CI for AEs of POEM in all SEDs was 14% (9, 20%), I 2  = 0%. The WPRs for post-procedure adverse events for type III achalasia, DES, and JH were

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

    Science.gov (United States)

    Chang, Jaerak; Lee, Seongju; Blackstone, Craig

    2014-12-01

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

  13. Impaired Mitochondrial Dynamics Underlie Axonal Defects in Hereditary Spastic Paraplegias.

    Science.gov (United States)

    Denton, Kyle; Mou, Yongchao; Xu, Chong-Chong; Shah, Dhruvi; Chang, Jaerak; Blackstone, Craig; Li, Xue-Jun

    2018-05-02

    Mechanisms by which long corticospinal axons degenerate in hereditary spastic paraplegia (HSP) are largely unknown. Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of HSP, SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. In patient iPSC-derived telencephalic glutamatergic and midbrain dopaminergic neurons, neurite number, length and branching are significantly reduced, recapitulating disease-specific phenotypes. We analyzed mitochondrial morphology and noted a significant reduction in both mitochondrial length and their densities within axons of these HSP neurons. Mitochondrial membrane potential was also decreased, confirming functional mitochondrial defects. Notably, mdivi-1, an inhibitor of the mitochondrial fission GTPase DRP1, rescues mitochondrial morphology defects and suppresses the impairment in neurite outgrowth and late-onset apoptosis in HSP neurons. Furthermore, knockdown of these HSP genes causes similar axonal defects, also mitigated by treatment with mdivi-1. Finally, neurite outgrowth defects in SPG15 and SPG48 cortical neurons can be rescued by knocking down DRP1 directly. Thus, abnormal mitochondrial morphology caused by an imbalance of mitochondrial fission and fusion underlies specific axonal defects and serves as a potential therapeutic target for SPG15 and SPG48.

  14. Effect of nutritional support in children with spastic quadriplegia.

    Science.gov (United States)

    Soylu, Ozlem Bekem; Unalp, Aycan; Uran, Nedret; Dizdarer, Gülsen; Ozgonul, Figen Oksel; Conku, Aliye; Ataman, Hamide; Ozturk, Aysel Aydogan

    2008-11-01

    Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.

  15. Esophageal hypomotility and spastic motor disorders: current diagnosis and treatment.

    Science.gov (United States)

    Valdovinos, Miguel A; Zavala-Solares, Monica R; Coss-Adame, Enrique

    2014-11-01

    Esophageal hypomotility (EH) is characterized by abnormal esophageal peristalsis, either from a reduction or absence of contractions, whereas spastic motor disorders (SMD) are characterized by an increase in the vigor and/or propagation velocity of esophageal body contractions. Their pathophysiology is not clearly known. The reduced excitation of the smooth muscle contraction mediated by cholinergic neurons and the impairment of inhibitory ganglion neuronal function mediated by nitric oxide are likely mechanisms of the peristaltic abnormalities seen in EH and SMD, respectively. Dysphagia and chest pain are the most frequent clinical manifestations for both of these dysfunctions, and gastroesophageal reflux disease (GERD) is commonly associated with these motor disorders. The introduction of high-resolution manometry (HRM) and esophageal pressure topography (EPT) has significantly enhanced the ability to diagnose EH and SMD. Novel EPT metrics in particular the development of the Chicago Classification of esophageal motor disorders has enabled improved characterization of these abnormalities. The first step in the management of EH and SMD is to treat GERD, especially when esophageal testing shows pathologic reflux. Smooth muscle relaxants (nitrates, calcium channel blockers, 5-phosphodiesterase inhibitors) and pain modulators may be useful in the management of dysphagia or pain in SMD. Endoscopic Botox injection and pneumatic dilation are the second-line therapies. Extended myotomy of the esophageal body or peroral endoscopic myotomy (POEM) may be considered in highly selected cases but lack evidence.

  16. Altered pathogenesis of porcine respiratory coronavirus in pigs due to immunosuppressive effects of dexamethasone: implications for corticosteroid use in treatment of severe acute respiratory syndrome coronavirus.

    Science.gov (United States)

    Jung, Kwonil; Alekseev, Konstantin P; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N; Saif, Linda J

    2007-12-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] [n = 41], PRCV/DEX [n = 41], mock/PBS [n = 23], and mock/DEX [n = 25]) were inoculated intranasally and intratracheally with the ISU-1 strain of PRCV (1 x 10(7) PFU) or cell culture medium. DEX was administered (once daily, 2 mg/kg of body weight/day, intramuscularly) from postinoculation day (PID) 1 to 6. In PRCV/DEX pigs, significantly milder pneumonia, fewer PRCV-positive cells, and lower viral RNA titers were present in lungs early at PID 2; however, at PID 4, 10, and 21, severe bronchointerstitial pneumonia, significantly higher numbers of PRCV-positive cells, and higher viral RNA titers were observed compared to results for PRCV/PBS pigs. Significantly lower numbers of CD2(+), CD3(+), CD4(+), and CD8(+) T cells were also observed in lungs of PRCV/DEX pigs than in those of PRCV/PBS pigs at PID 8 and 10, coincident with fewer gamma interferon (IFN-gamma)-secreting cells in the tracheobronchial lymph nodes as determined by enzyme-linked immunospot assay. Our results confirm that DEX treatment alleviates PRCV pneumonia early (PID 2) in the infection but continued use through PID 6 exacerbates later stages of infection (PID 4, 10, and 21), possibly by decreasing cellular immune responses in the lungs (IFN-gamma-secreting T cells), thereby creating an environment for more-extensive viral replication. These data have potential implications for corticosteroid use with SARS-CoV patients and suggest a precaution against prolonged use based on their unproven efficacy in humans

  17. Severe lower urinary tract symptoms due to anteriorly located midline prostatic cyst arising from the bladder neck in a young male: case report

    Energy Technology Data Exchange (ETDEWEB)

    Guragac, Ali; Demirer, Zafer; Alp, Bilal Firat; Aydur, Emin, E-mail: zaferdemirer@mynet.com, E-mail: zaferdemirer1903@gmail.com [Department of Urology, School of Medicine, Gulhane Military Medical Academy, Ankara (Turkey)

    2016-09-15

    Context: Prostatic cysts are uncommon. These cysts are usually asymptomatic and are diagnosed incidentally during ultrasonographic examination. On rare occasions, they may cause drastic symptoms. Case Report: We report on a case of severely symptomatic anteriorly located prostatic cyst arising from the bladder neck in a 30-year-old man presenting with lower urinary tract symptoms, without clinical evidence of benign prostatic hyperplasia. Transrectal ultrasonography (TRUS), computed tomography (CT) and cystourethroscopy demonstrated a projecting prostatic cyst that occupied the bladder neck at the precise twelve o’clock position. It was acting as a ball-valve, such that it obstructed the bladder outlet. Transurethral unroofing of the cyst was performed and the patient’s obstructive symptoms were successfully resolved. Histopathological examination indicated a retention cyst. Conclusions: It should be borne in mind that midline prostate cysts can be a reason for bladder outlet obstruction in a young male. Such patients may have tremendous improvement in symptoms through transurethral unroofing of the cyst wall. (author)

  18. Potential steam generator tube rupture in the presence of severe accident thermal challenge and tube flaws due to foreign object wear

    International Nuclear Information System (INIS)

    Liao, Y.; Guentay, S.

    2009-01-01

    This study develops a methodology to assess the probability for the degraded PWR steam generator to rupture first in the reactor coolant pressure boundary, under severe accident conditions with counter-current natural circulating high temperature gas in the hot leg and SG tubes. The considered SG tube flaws are caused by foreign object wear, which in recent years has emerged as a major inservice degradation mechanism for the new generation tubing materials. The first step develops the statistical distributions for the flaw frequency, size, and the flaw location with respect to the tube length and the tube's tubesheet position, based on data of hundreds of flaws reported in numerous SG inservice inspection reports. The next step performs thermal-hydraulic analysis using the MELCOR code and recent CFD findings to predict the thermal challenge to the degraded tubes and the tube-to-tube difference in thermal response at the SG entrance. The final step applies the creep rupture models in the Monte Carlo random walk to test the potential for the degraded SG to rupture before the surge line. The mean and range of the SG tube rupture probability can be applied to estimate large early release frequency in probabilistic safety assessment.

  19. CONTAIN code calculations of the effects on the source term of CsI to I/sub 2/ conversion due to severe hydrogen burns

    International Nuclear Information System (INIS)

    Valdez, G.D.; Williams, D.C.

    1986-01-01

    In experiments conducted at Sandia National Laboratories large amounts of elemental iodine were produced when CsI-Al 2 O 3 aerosol was exposed to hydrogen/air combustion. To evaluate some of the implications of the iodide conversion (observed to occur with up to 75% efficiency) for the severe accident source term, computational simulations of representative accident sequences were conducted with the CONTAIN code. The following conclusions can be drawn from this preliminary source term assessment: (1) If the containment sprays are inoperative during the accident, or failed by the hydrogen burn, the late-time source term is almost tripled when the iodide is converted to I 2 . (2) With the sprays active, the amount released without conversion of the CsI aerosol is 63% higher than for the case when conversion occurs. (3) For the case where CsI is converted to I 2 continued operation of the sprays reduces the release by a factor of 40, relative to the case in which the sprays fail at the time of the hydrogen burn. When there is no conversion, the reduction factor for continued spray operation is about a factor of 9, relative to the failed spray case

  20. Neuro-musculoskeletal simulation of instrumented contracture and spasticity assessment in children with cerebral palsy.

    Science.gov (United States)

    van der Krogt, Marjolein Margaretha; Bar-On, Lynn; Kindt, Thalia; Desloovere, Kaat; Harlaar, Jaap

    2016-07-16

    Increased resistance in muscles and joints is an important phenomenon in patients with cerebral palsy (CP), and is caused by a combination of neural (e.g. spasticity) and non-neural (e.g. contracture) components. The aim of this study was to simulate instrumented, clinical assessment of the hamstring muscles in CP using a conceptual model of contracture and spasticity, and to determine to what extent contracture can be explained by altered passive muscle stiffness, and spasticity by (purely) velocity-dependent stretch reflex. Instrumented hamstrings spasticity assessment was performed on 11 children with CP and 9 typically developing children. In this test, the knee was passively stretched at slow and fast speed, and knee angle, applied forces and EMG were measured. A dedicated OpenSim model was created with motion and muscles around the knee only. Contracture was modeled by optimizing the passive muscle stiffness parameters of vasti and hamstrings, based on slow stretch data. Spasticity was modeled using a velocity-dependent feedback controller, with threshold values derived from experimental data and gain values optimized for individual subjects. Forward dynamic simulations were performed to predict muscle behavior during slow and fast passive stretches. Both slow and fast stretch data could be successfully simulated by including subject-specific levels of contracture and, for CP fast stretches, spasticity. The RMS errors of predicted knee motion in CP were 1.1 ± 0.9° for slow and 5.9 ± 2.1° for fast stretches. CP hamstrings were found to be stiffer compared with TD, and both hamstrings and vasti were more compliant than the original generic model, except for the CP hamstrings. The purely velocity-dependent spasticity model could predict response during fast passive stretch in terms of predicted knee angle, muscle activity, and fiber length and velocity. Only sustained muscle activity, independent of velocity, was not predicted by our model. The

  1. Severe maternal stress exposure due to bereavement before, during and after pregnancy and risk of overweight and obesity in young adult men: a Danish National Cohort Study.

    Directory of Open Access Journals (Sweden)

    Lena Hohwü

    Full Text Available BACKGROUND: Perinatal stress may programme overweight and obesity. We examined whether maternal pre- and post-natal bereavement was associated with overweight and obesity in young men. METHODS: A cohort study was conducted including 119,908 men born from 1976 to 1993 and examined for military service between 2006 and 2011. Among them, 4,813 conscripts were born to mothers bereaved by death of a close relative from 12 months preconception to birth of the child (exposed group. Median body mass index (BMI and prevalence of overweight and obesity were estimated. Odds ratio of overweight (BMI≥25 kg/m2 and obesity (BMI≥30 kg/m2 were estimated by logistic regression analysis adjusted for maternal educational level. RESULTS: Median BMI was similar in the exposed and the unexposed group but the prevalence of overweight (33.3% versus 30.4%, p = 0.02 and obesity (9.8% versus 8.5%, p = 0.06 was higher in the exposed group. Conscripts exposed 6 to 0 months before conception and during pregnancy had a higher risk of overweight (odds ratio 1.15, 95% confidence interval (CI: 1.03; 1.27 and odds ratio 1.13, 95% CI: 1.03; 1.25, respectively. Conscripts born to mothers who experienced death of the child's biological father before child birth had a two-fold risk of obesity (odds ratio 2.00, 95% CI: 0.93; 4.31. There was no elevated risk in those who experienced maternal bereavement postnatally. CONCLUSION: Maternal bereavement during the prenatal period was associated with increased risk of overweight or obesity in a group of young male conscripts, and this may possibly be reflected to severe stress exposure early in life. However, not all associations were clear, and further studies are warranted.

  2. Cost-effectiveness of exercise therapy after corticosteroid injection for moderate to severe shoulder pain due to subacromial impingement syndrome: a trial-based analysis.

    Science.gov (United States)

    Jowett, Sue; Crawshaw, Dickon P; Helliwell, Philip S; Hensor, Elizabeth M A; Hay, Elaine M; Conaghan, Philip G

    2013-08-01

    To perform a cost-effectiveness analysis of subacromial corticosteroid injection combined with exercise compared with exercise alone in patients with moderate to severe shoulder pain from subacromial impingement syndrome. A within-trial cost-effectiveness analysis with 232 patients randomized to physiotherapy-led injection combined with exercise (n = 115) or exercise alone (n = 117). The analysis was from a health care perspective with 24-week follow-up. Resource use information was collected from all patients on interventions, medication, primary and secondary care contacts, private health care use and over-the-counter purchases. The measure of outcome was quality-adjusted life years (QALYs), calculated from EQ-5D responses at baseline and three further time points. An incremental cost-effectiveness analysis was conducted. Mean per patient NHS costs (£255 vs £297) and overall health care costs (£261 vs £318) were lower in the injection plus exercise arm, but this difference was not statistically significant. Total QALYs gained were very similar in the two trial arms (0.3514 vs 0.3494 QALYs), although slightly higher in the injection plus exercise arm, indicating that injection plus exercise may be the dominant treatment option. At a willingness to pay of £20,000 per additional QALY gained, there was a 61% probability that injection plus exercise was the most cost-effective option. Injection plus exercise delivered by therapists may be a cost-effective use of resources compared with exercise alone and lead to lower health care costs and less time off work. International Standard Randomised Controlled Trial Number Register, http://www.controlled-trials.com/isrctn/, ISRCT 25817033.

  3. Hydroxysteroid (17β)-dehydrogenase 1-deficient female mice present with normal puberty onset but are severely subfertile due to a defect in luteinization and progesterone production.

    Science.gov (United States)

    Hakkarainen, Janne; Jokela, Heli; Pakarinen, Pirjo; Heikelä, Hanna; Kätkänaho, Laura; Vandenput, Liesbeth; Ohlsson, Claes; Zhang, Fu-Ping; Poutanen, Matti

    2015-09-01

    Hydroxysteroid (17β)-dehydrogenase type 1 (HSD17B1) catalyzes the conversion of low active 17-ketosteroids, androstenedione (A-dione) and estrone (E1) to highly active 17-hydroxysteroids, testosterone (T) and E2, respectively. In this study, the importance of HSD17B1 in ovarian estrogen production was determined using Hsd17b1 knockout (HSD17B1KO) mice. In these mice, the ovarian HSD17B enzyme activity was markedly reduced, indicating a central role of HSD17B1 in ovarian physiology. The lack of Hsd17b activity resulted in increased ovarian E1:E2 and A-dione:T ratios, but we also observed reduced progesterone concentration in HSD17B1KO ovaries. Accordingly with the altered steroid production, altered expression of Star, Cyp11a1, Lhcgr, Hsd17b7, and especially Cyp17a1 was observed. The ovaries of HSD17B1KO mice presented with all stages of folliculogenesis, while the corpus luteum structure was less defined and number reduced. Surprisingly, bundles of large granular cells of unknown origin appeared in the stroma of the KO ovaries. The HSD17B1KO mice presented with severe subfertility and failed to initiate pseudopregnancy. However, the HSD17B1KO females presented with normal estrous cycle defined by vaginal smears and normal puberty appearance. This study indicates that HSD17B1 is a key enzyme in ovarian steroidogenesis and has a novel function in initiation and stabilization of pregnancy. © FASEB.

  4. Severe maternal stress exposure due to bereavement before, during and after pregnancy and risk of overweight and obesity in young adult men: a Danish National Cohort Study.

    Science.gov (United States)

    Hohwü, Lena; Li, Jiong; Olsen, Jørn; Sørensen, Thorkild I A; Obel, Carsten

    2014-01-01

    Perinatal stress may programme overweight and obesity. We examined whether maternal pre- and post-natal bereavement was associated with overweight and obesity in young men. A cohort study was conducted including 119,908 men born from 1976 to 1993 and examined for military service between 2006 and 2011. Among them, 4,813 conscripts were born to mothers bereaved by death of a close relative from 12 months preconception to birth of the child (exposed group). Median body mass index (BMI) and prevalence of overweight and obesity were estimated. Odds ratio of overweight (BMI≥25 kg/m2) and obesity (BMI≥30 kg/m2) were estimated by logistic regression analysis adjusted for maternal educational level. Median BMI was similar in the exposed and the unexposed group but the prevalence of overweight (33.3% versus 30.4%, p = 0.02) and obesity (9.8% versus 8.5%, p = 0.06) was higher in the exposed group. Conscripts exposed 6 to 0 months before conception and during pregnancy had a higher risk of overweight (odds ratio 1.15, 95% confidence interval (CI): 1.03; 1.27 and odds ratio 1.13, 95% CI: 1.03; 1.25, respectively). Conscripts born to mothers who experienced death of the child's biological father before child birth had a two-fold risk of obesity (odds ratio 2.00, 95% CI: 0.93; 4.31). There was no elevated risk in those who experienced maternal bereavement postnatally. Maternal bereavement during the prenatal period was associated with increased risk of overweight or obesity in a group of young male conscripts, and this may possibly be reflected to severe stress exposure early in life. However, not all associations were clear, and further studies are warranted.

  5. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis Plus Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Enzo Vicari

    2017-11-01

    Full Text Available This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS plus diarrhoea-predominant irritable bowel syndrome (D-IBS compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75 received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI, and performed at the start of therapy (V0 and three months after (V3. In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05 decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1. Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS after prostate massage significantly lowered only in IIIa cases.

  6. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    Science.gov (United States)

    Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75) received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS) and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI), and performed at the start of therapy (V0) and three months after (V3). In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05) decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1). Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS) after prostate massage significantly lowered only in IIIa cases. PMID:29099760

  7. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Kulak, W.; Okurowska-Zawada, B.; Sobaniec, W.; Goscik, M.; Olenski, J.

    2008-01-01

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  8. Post-operative Hypertension following Correction of Flexion Deformity of the Knees in a Spastic Diplegic Child: A Case Report

    Directory of Open Access Journals (Sweden)

    Vipin Mohan

    2016-11-01

    Full Text Available An adolescent boy with spastic diplegic cerebral palsy presented with crouch gait. He had bilateral severe flexion deformities of knees and hips. He was treated with single event multilevel surgery for the correction of deformities. Surgical procedures included bilateral adductor release, iliopsoas lengthening, bilateral femoral shortening and patella plication. Persistent hypertension was noted in the post-operative period. All causes of secondary hypertension were ruled out. Having persistent hypertension following the femoral shortening procedure is unusual. Antihypertensive medication controlled his blood pressure 15 months after surgery. Hypertension following correction of knee flexion deformity and limb lengthening is well known. Hypertension has not been described with the shortening osteotomy of the femur. Hypertension is a rare complication following the corrective surgery for the treatment of crouch gait. Blood pressure should be monitored during the post-operative period to detect such a rare complication.

  9. Atrophic changes in the trigeminal nerves of patients with trigeminal neuralgia due to neurovascular compression and their association with the severity of compression and clinical outcomes.

    Science.gov (United States)

    Leal, Paulo Roberto Lacerda; Barbier, Charlotte; Hermier, Marc; Souza, Miguel Angelo; Cristino-Filho, Gerardo; Sindou, Marc

    2014-06-01

    (marked indentation) had a significantly smaller mean V than the ipsilateralTN with NVC Grade I (mere contact), although it was not significantly smaller than that of the ipsilateralTN with NVC Grade II (displacement or distortion of root). The ipsilateralTN with NVC Grade III had a significantly smaller mean CSA than the ipsilateralTN with NVC Grades I and II (p data suggest that atrophic changes in TGNs, which significantly correlated with the severity of compression and clinical outcomes, may help to predict long-term prognosis after vascular decompression.

  10. BALB/c mice infected with antimony treatment refractory isolate of Leishmania braziliensis present severe lesions due to IL-4 production.

    Directory of Open Access Journals (Sweden)

    Diego L Costa

    Full Text Available BACKGROUND: Leishmania braziliensis is the main causative agent of cutaneous leishmaniasis in Brazil. Protection against infection is related to development of Th1 responses, but the mechanisms that mediate susceptibility are still poorly understood. Murine models have been the most important tools in understanding the immunopathogenesis of L. major infection and have shown that Th2 responses favor parasite survival. In contrast, L. braziliensis-infected mice develop strong Th1 responses and easily resolve the infection, thus making the study of factors affecting susceptibility to this parasite difficult. METHODOLOGY/PRINCIPAL FINDINGS: Here, we describe an experimental model for the evaluation of the mechanisms mediating susceptibility to L. braziliensis infection. BALB/c mice were inoculated with stationary phase promastigotes of L. braziliensis, isolates LTCP393(R and LTCP15171(S, which are resistant and susceptible to antimony and nitric oxide (NO, respectively. Mice inoculated with LTCP393(R presented larger lesions that healed more slowly and contained higher parasite loads than lesions caused by LTCP15171(S. Inflammatory infiltrates in the lesions and production of IFN-γ, TNF-α, IL-10 and TGF-β were similar in mice inoculated with either isolate, indicating that these factors did not contribute to the different disease manifestations observed. In contrast, IL-4 production was strongly increased in LTCP393(R-inoculated animals and also arginase I (Arg I expression. Moreover, anti-IL-4 monoclonal antibody (mAb treatment resulted in decreased lesion thickness and parasite burden in animals inoculated with LTCP393(R, but not in those inoculated with LTCP15171(S. CONCLUSION/SIGNIFICANCE: We conclude that the ability of L. braziliensis isolates to induce Th2 responses affects the susceptibility to infection with these isolates and contributes to the increased virulence and severity of disease associated with them. Since these data reflect

  11. Percutaneous radiofrequency lesions adjacent to the dorsal root ganglion alleviate spasticity and pain in children with cerebral palsy: pilot study in 17 patients

    Directory of Open Access Journals (Sweden)

    van Rhijn Lodewijk W

    2010-06-01

    Full Text Available Abstract Background Cerebral palsy (CP may cause severe spasticity, requiring neurosurgical procedures. The most common neurosurgical procedures are continuous infusion of intrathecal baclofen and selective dorsal rhizotomy. Both are invasive and complex procedures. We hypothesized that a percutaneous radiofrequency lesion of the dorsal root ganglion (RF-DRG could be a simple and safe alternative treatment. We undertook a pilot study to test this hypothesis. Methods We performed an RF-DRG procedure in 17 consecutive CP patients with severe hip flexor/adductor spasms accompanied by pain or care-giving difficulties. Six children were systematically evaluated at baseline, and 1 month and 6 months after treatment by means of the Modified Ashworth Scale (MAS, Gross Motor Function Measure (GMFM and a self-made caregiver's questionnaire. Eleven subsequent children were evaluated using a Visual Analogue Scale (VAS for spasticity, pain and ease of care. Results A total of 19 RF-DRG treatments were performed in 17 patients. We found a small improvement in muscle tone measured by MAS, but no effect on the GMFM scale. Despite this, the caregivers of these six treated children unanimously stated that the quality of life of their children had indeed improved after the RF-DRG. In the subsequent 11 children we found improvements in all VAS scores, in a range comparable to the conventional treatment options. Conclusion RF-DRG is a promising new treatment option for severe spasticity in CP patients, and its definitive effectiveness remains to be defined in a randomised controlled trial.

  12. Identification of the neural component of torque during manually-applied spasticity assessments in children with cerebral palsy

    NARCIS (Netherlands)

    Bar-On, L.; Desloovere, K.; Molenaers, G.; Harlaar, J.; Kindt, T.; Aertbelien, E.

    2014-01-01

    Clinical assessment of spasticity is compromised by the difficulty to distinguish neural from non-neural components of increased joint torque. Quantifying the contributions of each of these components is crucial to optimize the selection of anti-spasticity treatments such as botulinum toxin (BTX).

  13. Post-activation depression of soleus stretch reflexes in healthy and spastic humans

    DEFF Research Database (Denmark)

    Grey, Michael James; Klinge, Klaus; Crone, Clarissa

    2007-01-01

    Reduced depression of transmitter release from Ia afferents following previous activation (post-activation depression) has been suggested to be involved in the pathophysiology of spasticity. However, the effect of this mechanism on the myotatic reflex and its possible contribution to increased...... reflex excitability in spastic participants has not been tested. To investigate these effects, we examined post-activation depression in Soleus H-reflex responses and in mechanically evoked Soleus stretch reflex responses. Stretch reflex responses were evoked with consecutive dorsiflexion perturbations...... of the soleus stretch reflex and H-reflex decreased as the interval between the stimulus/perturbation was decreased. Similarly, the stretch-evoked torque decreased. In the spastic participants, the post-activation depression of both reflexes and the stretch-evoked torque was significantly smaller than...

  14. Serial casting for neuromuscular flatfoot and vertical talus in an adolescent with hereditary spastic paraplegia.

    Science.gov (United States)

    Sweet, Laurene A; OʼNeill, Lindsey M; Dobbs, Matthew B

    2014-01-01

    The purpose of this report is to explore assessment and serial casting intervention for painful rigid flatfoot deformities with vertical talus in an adolescent girl with hereditary spastic paraplegia who was nonambulatory. The participant's right foot underwent 2 phases of casting with correction first toward hindfoot inversion and then dorsiflexion. Because of a vertical talus, her left foot required an intermediate casting toward plantar flexion, inversion, and forefoot adduction prior to casting toward dorsiflexion. The patient improved despite the underlying progressive neuromuscular disorder. Pain ameliorated and she returned to supported standing and transfers. Spasticity decreased bilaterally and the flexibility of her foot deformities improved to allow orthotic fabrication in subtalar neutral. Results were maintained at 12 and 16 months. Individualized multiphase serial casting requires further investigation with patients such as those with hereditary spastic paraplegia.

  15. Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

    Science.gov (United States)

    Newton, Timothy; Allison, Rachel; Edgar, James R; Lumb, Jennifer H; Rodger, Catherine E; Manna, Paul T; Rizo, Tania; Kohl, Zacharias; Nygren, Anders O H; Arning, Larissa; Schüle, Rebecca; Depienne, Christel; Goldberg, Lisa; Frahm, Christiane; Stevanin, Giovanni; Durr, Alexandra; Schöls, Ludger; Winner, Beate; Beetz, Christian; Reid, Evan

    2018-05-01

    Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interactions is rarely understood. Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy. We found that patients with hereditary spastic paraplegia caused by genomic deletions of SPAST that extended into DPY30 had a significantly younger age at onset. We show that, like spastin, the protein encoded by SPAST, the DPY30 protein controls endosomal tubule fission, traffic of mannose 6-phosphate receptors from endosomes to the Golgi, and lysosomal ultrastructural morphology. We propose that additive effects on this pathway explain the reduced age at onset of hereditary spastic paraplegia in patients who are haploinsufficient for both genes.

  16. A literature review on the efficacy and safety of botulinum toxin: An injection in post-stroke spasticity

    Directory of Open Access Journals (Sweden)

    Majid Ghasemi

    2013-01-01

    Full Text Available Background: A variety of techniques for the management of spasticity have been suggested, including positioning, cryotherapy, splinting and casting, biofeedback, electrical stimulation, and medical management by pharmacological agents, Botulinum toxin A (BTA is now the pharmacological treatment of choice in focal spasticity. BTA by blocking acetylcholine release at neuromuscular junctions accounts for its therapeutic action to relieve spasticity. Methods: A computerized search of Pub Med was carried out to find the latest result about efficacy of BTA in management of post stroke spasticity. Result: Among 84 articles were found, frothy of them included in this review and divided to lower and upper extremity. Conclusions: BTA is a treatment choice in reducing tone and managing post stroke spasticity .

  17. [Management of symptoms associated with spasticity in patients with multiple sclerosis].

    Science.gov (United States)

    Fernández-Pablos, María Asunción; Costa-Frossard, Lucienne; García-Hernández, Carlos; García-Montes, Inmaculada; Escutia-Roig, Matilde

    To describe the role of nurses in the management of symptoms related to spasticity in patients with multiple sclerosis (MS). A descriptive study was developed based on a questionnaire on spasticity in MS patients. The questionnarie was completed through an anonymous tele-voting system at a national meeting with nurses involved in the management of these patients. Apart from fatigue, according to the opinion of the participants, the spasticity symptom associated with MS most notified by patients was difficulty in walking, followed by spasms and pain. Participants thought that it is important that nursing takes: 1) a role in identifying these symptoms, 2) should focus on the detection of the triggering or aggravating factors, and 3) on providing support in the assessment of the level of spasticity. It is important to inform about the correct use of anti-spasticity drugs, how to adjust the dosage and side effects of treatments, including cannabinoids via an oromucosal spray, titrating its doses according to each patient, and monitoring its tolerability, efficacy and adherence. Although there are usually resources to follow up these patients, there are still important gaps, including the lack of a specific follow-up protocol. Although all the participants are experts in the management of patients with MS, there is still diversity in the functions they perform, and the available resources they have in their hospitals. Nurses act as a key element in the process of identification of symptoms, training and monitoring of these patients with spasticity in EM. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  18. Sensory Barrage Stimulation in the Treatment of Elbow Spasticity: A Crossover Double Blind Randomized Pilot Trial.

    Science.gov (United States)

    Slovak, Martin; Chindo, Joseph; Nair, Krishnan Padmakumari Sivaraman; Reeves, Mark L; Heller, Ben; Barker, Anthony T

    2016-02-01

    To assess the feasibility of using a novel form of multichannel electrical stimulation, termed Sensory Barrage Stimulation (SBS) for the treatment of spasticity affecting the elbow flexor muscles and to compare this with conventional single-channel TENS stimulation. Altogether ten participants with spasticity of the flexor muscles of the elbow of Grade 2 or above on the Modified Ashworth Scale (MAS) were recruited to this crossover double blind randomized trial. The participants received two intervention sessions (SBS and TENS), one week apart in a randomized order. Both interventions were applied over the triceps brachii on the affected arm for a duration of 60 minutes. Spasticity was measured using the MAS. Secondary outcome measures were self-reported change in spasticity, measured on a visual analog scale (VAS, 0-100), and therapist-rated strength of elbow extension and strength of elbow flexion. Measurements were taken immediately before each intervention was applied, immediately after the intervention, and one hour after the intervention. Immediately after stimulation spasticity showed a significant reduction for both TENS and SBS groups assessed by MAS -0.9 ± 0.2 vs. -1.1 ± 0.2 and by VAS -15 ± 3 vs. -31 ± 8. For SBS this improvement in MAS was still present at one hour after the stimulation, but not for TENS. Altogether seven SBS responders and four TENS responders were identified. This study demonstrates the feasibility and practicality of applying the new concept of SBS. Promising results indicate it causes a reduction in spasticity. © 2015 International Neuromodulation Society.

  19. Simultaneous characterizations of reflex and nonreflex dynamic and static changes in spastic hemiparesis

    Science.gov (United States)

    Chung, Sun G.; Ren, Yupeng; Liu, Lin; Roth, Elliot J.; Rymer, W. Zev

    2013-01-01

    This study characterizes tonic and phasic stretch reflex and stiffness and viscosity changes associated with spastic hemiparesis. Perturbations were applied to the ankle of 27 hemiparetic and 36 healthy subjects under relaxed or active contracting conditions. A nonlinear delay differential equation model characterized phasic and tonic stretch reflex gains, elastic stiffness, and viscous damping. Tendon reflex was characterized with reflex gain and threshold. Reflexively, tonic reflex gain was increased in spastic ankles at rest (P hemiparesis may help to evaluate and treat them more effectively. PMID:23636726

  20. Asphyxia-related risk factors and their timing in spastic cerebral palsy

    DEFF Research Database (Denmark)

    Nielsen, Lene F.; Schendel, Diana; Grove, Jakob

    2008-01-01

    Objective To investigate the association of asphyxia-related conditions (reducing blood flow or blood oxygen levels in the fetus) with spastic cerebral palsy (CP) considering different gestational age groups and the timing of risk. Design Population-based case-control study. Setting Danish Cerebral...... Palsy Register in eastern Denmark and Danish Medical Birth Register. Population or Sample 271 singletons with spastic CP and 217 singleton controls, frequency matched by gestational age group, born 1982-1990 in eastern Denmark. Methods Data were abstracted from medical records, and a priori asphyxia...

  1. Analysis of spastic gait in cervical myelopathy: Linking compression ratio to spatiotemporal and pedobarographic parameters.

    Science.gov (United States)

    Nagai, Taro; Takahashi, Yasuhito; Endo, Kenji; Ikegami, Ryo; Ueno, Ryuichi; Yamamoto, Kengo

    2018-01-01

    Gait dysfunction associated with spasticity and hyperreflexia is a primary symptom in patients with compression of cervical spinal cord. The objective of this study was to link maximum compression ratio (CR) to spatiotemporal/pedobarographic parameters. Quantitative gait analysis was performed by using a pedobarograph in 75 elderly males with a wide range of cervical compression severity. CR values were characterized on T1-weighted magnetic resonance imaging (MRI). Statistical significances in gait analysis parameters (speed, cadence, stride length, step with, and toe-out angle) were evaluated among different CR groups by the non-parametric Kruskal-Wallis test followed by the Mann-Whitney U test using Bonferroni correction. The Spearman test was performed to verify correlations between CR and gait parameters. The Kruskal-Wallis test revealed significant decline in gait speed and stride length and significant increase in toe-out angle with progression of cervical compression myelopathy. The post-hoc Mann-Whitney U test showed significant differences in these parameters between the control group (0.45test revealed that CR was significantly correlated with speed, cadence, stride length, and toe-out angle. Gait speed, stride length, and toe-out angle can serve as useful indexes for evaluating progressive gait abnormality in cervical myelopathy. Our findings suggest that CR≤0.25 is associated with significantly poorer gait performance. Nevertheless, future prospective studies are needed to determine a potential benefit from decompressive surgery in such severe compression patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Cortical somatosensory reorganization in children with spastic cerebral palsy: a multimodal neuroimaging study

    Directory of Open Access Journals (Sweden)

    CHRISTOS ePAPADELIS

    2014-09-01

    Full Text Available Although cerebral palsy (CP is among the most common causes of physical disability in early childhood, we know little about the functional and structural changes of this disorder in the developing brain. Here, we investigated with three different neuroimaging modalities (magnetoencephalography (MEG, diffusion tension imaging (DTI, and resting state fMRI whether spastic CP is associated with functional and anatomical abnormalities in the sensorimotor network. Ten children participated in the study: four with diplegic CP (DCP, three with hemiplegic CP (HCP, and three typically-developing (TD children. Somatosensory evoked fields (SEFs were recorded in response to pneumatic stimuli applied to digits D1, D3, and D5 of both hands. Several parameters of water diffusion were calculated from DTI between the thalamus and the precentral and postcentral gyri in both hemispheres. The sensorimotor resting state networks (RSNs were examined by using an independent component analysis method. Tactile stimulation of the fingers elicited the first prominent cortical response at ~50 ms, in all except one child, localized over the primary somatosensory cortex (S1. In five CP children, abnormal somatotopic organization was observed in the affected (or more affected hemisphere. Euclidean distances were markedly different between the two hemispheres in the HCP children, and between DCP and TD children for both hemispheres. DTI analysis revealed decreased fractional anisotropy and increased apparent diffusion coefficient for the thalamocortical pathways in the more affected compared to less affected hemisphere in CP children. Rs-fMRI results indicated absent and/or abnormal sensorimotor RSNs for children with HCP and DCP consistent with the severity and location of their lesions. Our findings suggest an abnormal somatosensory processing mechanism in the sensorimotor network of children with CP possibly as a result of diminished thalamocortical projections.

  3. Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Yongjun Fan

    2014-05-01

    Full Text Available Hereditary Spastic Paraplegia (HSP is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutations in spastin are a common cause of HSP. Spastin is a microtubule-severing protein whose mutation in mouse causes defective axonal transport. In human patient-derived olfactory neurosphere-derived (ONS cells, spastin mutations lead to lower levels of acetylated α-tubulin, a marker of stabilised microtubules, and to slower speed of peroxisome trafficking. Here we screened multiple concentrations of four tubulin-binding drugs for their ability to rescue levels of acetylated α-tubulin in patient-derived ONS cells. Drug doses that restored acetylated α-tubulin to levels in control-derived ONS cells were then selected for their ability to rescue peroxisome trafficking deficits. Automated microscopic screening identified very low doses of the four drugs (0.5 nM taxol, 0.5 nM vinblastine, 2 nM epothilone D, 10 µM noscapine that rescued acetylated α-tubulin in patient-derived ONS cells. These same doses rescued peroxisome trafficking deficits, restoring peroxisome speeds to untreated control cell levels. These results demonstrate a novel approach for drug screening based on high throughput automated microscopy for acetylated α-tubulin followed by functional validation of microtubule-based peroxisome transport. From a clinical perspective, all the drugs tested are used clinically, but at much higher doses. Importantly, epothilone D and noscapine can enter the central nervous system, making them potential candidates for future clinical trials.

  4. Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

    Science.gov (United States)

    Fan, Yongjun; Wali, Gautam; Sutharsan, Ratneswary; Bellette, Bernadette; Crane, Denis I.; Sue, Carolyn M.; Mackay-Sim, Alan

    2014-01-01

    ABSTRACT Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutations in spastin are a common cause of HSP. Spastin is a microtubule-severing protein whose mutation in mouse causes defective axonal transport. In human patient-derived olfactory neurosphere-derived (ONS) cells, spastin mutations lead to lower levels of acetylated α-tubulin, a marker of stabilised microtubules, and to slower speed of peroxisome trafficking. Here we screened multiple concentrations of four tubulin-binding drugs for their ability to rescue levels of acetylated α-tubulin in patient-derived ONS cells. Drug doses that restored acetylated α-tubulin to levels in control-derived ONS cells were then selected for their ability to rescue peroxisome trafficking deficits. Automated microscopic screening identified very low doses of the four drugs (0.5 nM taxol, 0.5 nM vinblastine, 2 nM epothilone D, 10 µM noscapine) that rescued acetylated α-tubulin in patient-derived ONS cells. These same doses rescued peroxisome trafficking deficits, restoring peroxisome speeds to untreated control cell levels. These results demonstrate a novel approach for drug screening based on high throughput automated microscopy for acetylated α-tubulin followed by functional validation of microtubule-based peroxisome transport. From a clinical perspective, all the drugs tested are used clinically, but at much higher doses. Importantly, epothilone D and noscapine can enter the central nervous system, making them potential candidates for future clinical trials. PMID:24857849

  5. Flexor origin slide for contracture of spastic finger flexor muscles: a retrospective study.

    Science.gov (United States)

    Thevenin-Lemoine, Camille; Denormandie, Philippe; Schnitzler, Alexis; Lautridou, Christine; Allieu, Yves; Genêt, François

    2013-03-06

    Contracture of the wrist and extrinsic finger flexor and pronator muscles is a common consequence of central nervous system disorders. The proximal release of the extrinsic flexor and pronator muscles was first described by Page and Scaglietti for a Volkmann contracture. The aim of the present study was to assess the amount of increase in extension and the improvements in global hand function that can be expected following this lengthening procedure in patients with central nervous system disorders. A single-center retrospective review of patients with central nervous system lesions and contractures of the wrist and extrinsic finger flexor and forearm pronator muscles, causing aesthetic, hygienic, or functional impairment, was carried out. The Page-Scaglietti technique was used for all interventions. Before the operation, motor nerve blocks were used to distinguish between spasticity and contractures with surgical intervention only for contractures. The Zancolli and House classifications were used to evaluate improvements. Data from fifty-four hands and fifty patients (thirty-five men and fifteen women) were evaluated. The mean duration of follow-up (and standard deviation) was 26 ± 21 months (range, three to 124 months). The mean gain (and standard deviation) in wrist extension with fingers extended was 67° ± 25° (range, -10° to 110°). Preoperatively, no hands were classified as Zancolli Group 1, whereas twenty-five hands were classified as Zancolli Group 1 at the latest follow-up review. Ten nonfunctional hands (rated as House Group 0 or Group 1) became functional as a supporting hand postoperatively. Zancolli and House classifications increased significantly (p contracture of the intrinsic muscles, which required further intervention. The Page-Scaglietti technique appears to improve range of motion and function in people with wrist and finger contractures due to central nervous system disorders.

  6. Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

    LENUS (Irish Health Repository)

    Murphy, S

    2012-02-01

    BACKGROUND: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder. OBJECTIVE: A family with SPG4-HSP known to have a deletion of exon 17 in the spastin gene (SPG4delEx17) was cognitively assessed over a 7-year period. The index family member died and a postmortem examination was performed. METHODS: Thirteen family members older than 40 years were clinically and cognitively assessed using the Cambridge Cognitive Assessment over a 7-year period. The presence of SPG4delEx17 was assessed; a neuropathologic examination of the brain of the index family member was performed. RESULTS: Cognitive decline occurred in 6 of the 13 family members and in all 4 older than 60 years. Two genetic deletions were identified: SPG4delEx17 in 12 of the 13 family members and a deletion of SPG6 (SPG6del) in 5. Eight individuals had the SPG4delEx17 deletion only; 4 had evidence of progressive cognitive impairment. Four family members had both SPG4delEx17 and SPG6del; 2 of these had cognitive impairment. One family member with the SPG6del alone had neither HSP nor cognitive impairment. The index case with both deletions died with dementia; the brain showed widespread ubiquitin positivity within the neocortex and white matter. CONCLUSION: Cognitive decline and dementia is a feature of SPG4-HSP due to a deletion of exon 17 of the spastin gene.

  7. Modified Ashworth Scale (MAS) Model based on Clinical Data Measurement towards Quantitative Evaluation of Upper Limb Spasticity

    Science.gov (United States)

    Puzi, A. Ahmad; Sidek, S. N.; Mat Rosly, H.; Daud, N.; Yusof, H. Md

    2017-11-01

    Spasticity is common symptom presented amongst people with sensorimotor disabilities. Imbalanced signals from the central nervous systems (CNS) which are composed of the brain and spinal cord to the muscles ultimately leading to the injury and death of motor neurons. In clinical practice, the therapist assesses muscle spasticity using a standard assessment tool like Modified Ashworth Scale (MAS), Modified Tardiue Scale (MTS) or Fugl-Meyer Assessment (FMA). This is done subjectively based on the experience and perception of the therapist subjected to the patient fatigue level and body posture. However, the inconsistency in the assessment is prevalent and could affect the efficacy of the rehabilitation process. Thus, the aim of this paper is to describe the methodology of data collection and the quantitative model of MAS developed to satisfy its description. Two subjects with MAS of 2 and 3 spasticity levels were involved in the clinical data measurement. Their level of spasticity was verified by expert therapist using current practice. Data collection was established using mechanical system equipped with data acquisition system and LABVIEW software. The procedure engaged repeated series of flexion of the affected arm that was moved against the platform using a lever mechanism and performed by the therapist. The data was then analyzed to investigate the characteristics of spasticity signal in correspondence to the MAS description. Experimental results revealed that the methodology used to quantify spasticity satisfied the MAS tool requirement according to the description. Therefore, the result is crucial and useful towards the development of formal spasticity quantification model.

  8. Best seating condition in children with spastic cerebral palsy : One type does not fit all

    NARCIS (Netherlands)

    Angsupaisal, Mattana; Dijkstra, Linze-Jaap; la Bastide-van Gemert, Sacha; van Hoorn, Jessika F.; Burger, Karine; Maathuis, Carel G. B.; Hadders-Algra, Mijna

    2017-01-01

    Background: The effect of forward-tilting of the seat surface and foot-support in children with spastic cerebral palsy (CP) is debated. Aim: To assess the effect of forward-tilting of the seat surface and foot-support in children with CP on kinematic head stability and reaching. Methods: Nineteen

  9. SPG10 is a rare cause of spastic paraplegia in European families.

    NARCIS (Netherlands)

    Schule, R.; Kremer, H.P.H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; Warrenburg, B.P.C. van de; Schols, L.

    2008-01-01

    BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the

  10. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

    NARCIS (Netherlands)

    Schule, R.; Bonin, M.; Durr, A.; Forlani, S.; Sperfeld, A.D.; Klimpe, S.; Mueller, J.C.; Seibel, A.; Warrenburg, B.P.C. van de; Bauer, P.; Schols, L.

    2009-01-01

    OBJECTIVE: Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP

  11. SPG10 is a rare cause of spastic paraplegia in European families

    NARCIS (Netherlands)

    Schuele, R.; Kremer, B. P. H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; van de Warrenburg, B. P.; Schoels, L.

    Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. Objective: To determine the

  12. Caregiver burden, productivity loss, and indirect costs associated with caring for patients with poststroke spasticity

    Science.gov (United States)

    Ganapathy, Vaidyanathan; Graham, Glenn D; DiBonaventura, Marco D; Gillard, Patrick J; Goren, Amir; Zorowitz, Richard D

    2015-01-01

    Objective Many stroke survivors experience poststroke spasticity and the related inability to perform basic activities, which necessitates patient management and treatment, and exerts a considerable burden on the informal caregiver. The current study aims to estimate burden, productivity loss, and indirect costs for caregivers of stroke survivors with spasticity. Methods Internet survey data were collected from 153 caregivers of stroke survivors with spasticity including caregiving time and difficulty (Oberst Caregiver Burden Scale), Work Productivity and Activity Impairment measures, and caregiver and patient characteristics. Fractional logit models examined predictors of work-related restriction, and work losses were monetized (2012 median US wages). Results Mean Oberst Caregiver Burden Scale time and difficulty scores were 46.1 and 32.4, respectively. Employed caregivers (n=71) had overall work restriction (32%), absenteeism (9%), and presenteeism (27%). Caregiver characteristics, lack of nursing home coverage, and stroke survivors’ disability predicted all work restriction outcomes. The mean total lost-productivity cost per employed caregiver was US$835 per month (>$10,000 per year; 72% attributable to presenteeism). Conclusion These findings demonstrate the substantial burden of caring for stroke survivors with spasticity illustrating the societal and economic impact of stroke that extends beyond the stroke survivor. PMID:26609225

  13. The early markers for later dyskinetic cerebral palsy are different from those for spastic cerebral palsy

    NARCIS (Netherlands)

    Einspieler, C; Cioni, G; Paolicelli, PB; Bos, AF; Dressler, A; Ferrari, F; Roversi, MF; Prechtl, HFR

    Qualitative abnormalities of spontaneous motor activity in new-borns and young infants are early predictive markers for later spastic cerebral palsy. Aim of this research was to identify which motor patterns may be specific for later dyskinetic cerebral palsy. In a large, prospectively performed

  14. On Denny-Brown's 'spastic dystonia' - What is it and what causes it?

    DEFF Research Database (Denmark)

    Lorentzen, Jakob; Pradines, Maud; Gracies, Jean-Michel

    2018-01-01

    In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is “Enhanced excitability of velocity-dependent responses to phasic stretch at rest”, which will not be the subject of thi...

  15. Reproducibility and validity of video screen measurements of gait in children with spastic cerebral palsy.

    NARCIS (Netherlands)

    Grunt, S.; van Kampen, P.M.; van der Krogt, M.M.; Brehm, M.A.; Doorenbosch, C.A.M.; Becher, J.G.

    2010-01-01

    Purpose: To determine the reproducibility and validity of video screen measurement (VSM) of sagittal plane joint angles during gait. Methods: 17 children with spastic cerebral palsy walked on a 10. m walkway. Videos were recorded and 3d-instrumented gait analysis was performed. Two investigators

  16. Reproducibility and validity of video screen measurements of gait in children with spastic cerebral palsy

    NARCIS (Netherlands)

    Grunt, Sebastian; van Kampen, Petra J.; van der Krogt, Marjolein M.; Brehm, Merel-Anne; Doorenbosch, Caroline A. M.; Becher, Jules G.

    2010-01-01

    PURPOSE: To determine the reproducibility and validity of video screen measurement (VSM) of sagittal plane joint angles during gait. METHODS: 17 children with spastic cerebral palsy walked on a 10m walkway. Videos were recorded and 3d-instrumented gait analysis was performed. Two investigators

  17. Postural control in children with spastic diplegia : Muscle activity during perturbations in sitting

    NARCIS (Netherlands)

    Brogren, E; HaddersAlgra, M; Forssberg, H

    To clarify the neural mechanisms controlling equilibrium during sitting, and the implications for the optimal sitting position for children with CP, automatic postural adjustments after perturbations of the support surface during sitting were investigated in seven children with spastic diplegia and

  18. Classification of Topographical Pattern of Spasticity in Cerebral Palsy: A Registry Perspective

    Science.gov (United States)

    Reid, Susan M.; Carlin, John B.; Reddihough, Dinah S.

    2011-01-01

    This study used data from a population-based cerebral palsy (CP) registry and systematic review to assess the amount of heterogeneity between registries in topographical patterns when dichotomised into unilateral (USCP) and bilateral spastic CP (BSCP), and whether the terms diplegia and quadriplegia provide useful additional epidemiological…

  19. The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia.

    Science.gov (United States)

    Rogoveanu, O C; Tuțescu, N C; Kamal, D; Alexandru, D O; Kamal, C; Streba, C T; Trăistaru, M R

    2016-01-01

    Spastic quadriplegia has as an etiopathogenic substrate, a non-progressive brain lesion; however, the clinical manifestations of the disease evolve over time. Children diagnosed with spastic quadriplegia show a variety of symptoms in different areas: sensorimotor, emotional, cognitive, and social. The purpose of this study was to assess the functional status in patients diagnosed with spastic quadriplegia, who followed a complex medical rehabilitation program, during a year, and highlight the importance of using physical and kinetic techniques in improving their status. A total of 10 children diagnosed with spastic quadriplegia were included in the study and the Gross Motor Function Classification System (GMFCS) and manual ability classification system (MACS) were used to evaluate the functionality status of each patient. Every patient was evaluated initially (T1), after six months of program (T2), and after they completed the study. All the children were originally monitored daily, for 5 days per week for a period of one month, then two times a week for a year. A statistically significant difference regarding the modification of the GMFCS and MACS stage was found, which occurred between the first and the third evaluation. The inverse correlation of the statistical significance between the ages of patients and the decrease in GMFCS or MACS stage was highlighted; the younger the patient, the more the scale decreased. A direct link between the gross motor function and the manual ability was noticed. Applying a complex rehabilitation program has proven efficient by improving both the gross motor functionality and the manual ability.

  20. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    NARCIS (Netherlands)

    Josifova, Dragana J.; Monroe, Glen R.; Tessadori, Federico; de Graaff, Esther; van der Zwaag, Bert; Mehta, Sarju G.; Harakalova, Magdalena; Duran, Karen J.; Savelberg, Sanne M. C.; Nijman, Isaäc J.; Jungbluth, Heinz; Hoogenraad, Casper C.; Bakkers, Jeroen; Knoers, Nine V.; Firth, Helen V.; Beales, Philip L.; van Haaften, Gijs; van Haelst, Mieke M.

    2016-01-01

    We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO). KIDINS220 is an essential scaffold protein coordinating neurotrophin signal pathways in neurites and is spatially and temporally

  1. Disturbances of motor unit rate modulation are prevalent in muscles of spastic-paretic stroke survivors

    Science.gov (United States)

    Heckman, C. J.; Powers, R. K.; Rymer, W. Z.; Suresh, N. L.

    2014-01-01

    Stroke survivors often exhibit abnormally low motor unit firing rates during voluntary muscle activation. Our purpose was to assess the prevalence of saturation in motor unit firing rates in the spastic-paretic biceps brachii muscle of stroke survivors. To achieve this objective, we recorded the incidence and duration of impaired lower- and higher-threshold motor unit firing rate modulation in spastic-paretic, contralateral, and healthy control muscle during increases in isometric force generated by the elbow flexor muscles. Impaired firing was considered to have occurred when firing rate became constant (i.e., saturated), despite increasing force. The duration of impaired firing rate modulation in the lower-threshold unit was longer for spastic-paretic (3.9 ± 2.2 s) than for contralateral (1.4 ± 0.9 s; P unit was also longer for the spastic-paretic (1.7 ± 1.6 s) than contralateral (0.3 ± 0.3 s; P = 0.007) and control (0.1 ± 0.2 s; P = 0.009) muscles. This impaired firing rate of the lower-threshold unit arose, despite an increase in the overall descending command, as shown by the recruitment of the higher-threshold unit during the time that the lower-threshold unit was saturating, and by the continuous increase in averages of the rectified EMG of the biceps brachii muscle throughout the rising phase of the contraction. These results suggest that impairments in firing rate modulation are prevalent in motor units of spastic-paretic muscle, even when the overall descending command to the muscle is increasing. PMID:24572092

  2. Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy.

    Directory of Open Access Journals (Sweden)

    Karyn G Robinson

    Full Text Available Cerebral palsy (CP is a static encephalopathy occurring when a lesion to the developing brain results in disordered movement and posture. Patients present with sometimes overlapping spastic, athetoid/dyskinetic, and ataxic symptoms. Spastic CP, which is characterized by stiff muscles, weakness, and poor motor control, accounts for ∼80% of cases. The detailed mechanisms leading to disordered movement in spastic CP are not completely understood, but clinical experience and recent studies suggest involvement of peripheral motor synapses. For example, it is recognized that CP patients have altered sensitivities to drugs that target neuromuscular junctions (NMJs, and protein localization studies suggest that NMJ microanatomy is disrupted in CP. Since CP originates during maturation, we hypothesized that NMJ disruption in spastic CP is associated with retention of an immature neuromotor phenotype later in life. Scoliosis patients with spastic CP or idiopathic disease were enrolled in a prospective, partially-blinded study to evaluate NMJ organization and neuromotor maturation. The localization of synaptic acetylcholine esterase (AChE relative to postsynaptic acetylcholine receptor (AChR, synaptic laminin β2, and presynaptic vesicle protein 2 (SV2 appeared mismatched in the CP samples; whereas, no significant disruption was found between AChR and SV2. These data suggest that pre- and postsynaptic NMJ components in CP children were appropriately distributed even though AChE and laminin β2 within the synaptic basal lamina appeared disrupted. Follow up electron microscopy indicated that NMJs from CP patients appeared generally mature and similar to controls with some differences present, including deeper postsynaptic folds and reduced presynaptic mitochondria. Analysis of maturational markers, including myosin, syntrophin, myogenin, and AChR subunit expression, and telomere lengths, all indicated similar levels of motor maturation in the two groups

  3. Caregiver burden, productivity loss, and indirect costs associated with caring for patients with poststroke spasticity

    Directory of Open Access Journals (Sweden)

    Ganapathy V

    2015-11-01

    Full Text Available Vaidyanathan Ganapathy,1 Glenn D Graham,2 Marco D DiBonaventura,3 Patrick J Gillard,1 Amir Goren,3 Richard D Zorowitz41Allergan, Irvine, CA, USA; 2Department of Veterans Affairs, San Francisco, CA, USA; 3Health Outcomes Practice, Kantar Health, New York, NY, USA; 4Johns Hopkins Bayview Medical Center, Baltimore, MD, USAObjective: Many stroke survivors experience poststroke spasticity and the related inability to perform basic activities, which necessitates patient management and treatment, and exerts a considerable burden on the informal caregiver. The current study aims to estimate burden, productivity loss, and indirect costs for caregivers of stroke survivors with spasticity.Methods: Internet survey data were collected from 153 caregivers of stroke survivors with spasticity including caregiving time and difficulty (Oberst Caregiver Burden Scale, Work Productivity and Activity Impairment measures, and caregiver and patient characteristics. Fractional logit models examined predictors of work-related restriction, and work losses were monetized (2012 median US wages.Results: Mean Oberst Caregiver Burden Scale time and difficulty scores were 46.1 and 32.4, respectively. Employed caregivers (n=71 had overall work restriction (32%, absenteeism (9%, and presenteeism (27%. Caregiver characteristics, lack of nursing home coverage, and stroke survivors’ disability predicted all work restriction outcomes. The mean total lost-productivity cost per employed caregiver was US$835 per month (>$10,000 per year; 72% attributable to presenteeism.Conclusion: These findings demonstrate the substantial burden of caring for stroke survivors with spasticity illustrating the societal and economic impact of stroke that extends beyond the stroke survivor.Keywords: burden, caregiver, productivity, spasticity, stroke

  4. Functional electrical stimulation of the ankle dorsiflexors during walking in spastic cerebral palsy: a systematic review.

    Science.gov (United States)

    Moll, Irene; Vles, Johannes S H; Soudant, Dan L H M; Witlox, Adhiambo M A; Staal, Heleen M; Speth, Lucianne A W M; Janssen-Potten, Yvonne J M; Coenen, Marcel; Koudijs, Suzanne M; Vermeulen, R Jeroen

    2017-12-01

    To assess the effect of functional electrical stimulation (FES) of ankle dorsiflexors in children and adolescents with spastic cerebral palsy (CP) during walking. A systematic review was performed using the American Academy of Cerebral Palsy and Developmental Medicine methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six databases were searched for studies applying interventions to patients aged younger than 20 years. Outcomes were classified according to the International Classification of Functioning, Disability and Health (ICF). Seven hundred and eighty abstracts were found, 35 articles were fully screened, and 14 articles were used for analysis. Only five articles (three studies) were of level I to III evidence. At ICF participation and activity level, there is limited evidence for a decrease in self-reported frequency of toe-drag and falls. At ICF body structure and function level, there is clear evidence (I-III) that FES increased (active) ankle dorsiflexion angle, strength, and improved selective motor control, balance, and gait kinematics, but decreased walking speed. Adverse events include skin irritation, toleration, and acceptation issues. There are insufficient data supporting functional gain by FES on activity and participation level. However, evidence points towards a role for FES as an alternative to orthoses in children with spastic CP. Effects of functional electrical stimulation (FES) point towards a potential role as an alternative to orthoses for patients with spastic cerebral palsy (CP). Some evidence for a decrease in self-reported frequency of toe-drag and falls with the use of FES in spastic CP. Limited evidence for improvements in activity and participation in patients with spastic CP using FES. © 2017 Mac Keith Press.

  5. Item response theory analysis to evaluate reliability and minimal clinically important change of the Roland-Morris Disability Questionnaire in patients with severe disability due to back pain from vertebral compression fractures.

    Science.gov (United States)

    Lee, Minji K; Yost, Kathleen J; McDonald, Jennifer S; Dougherty, Ryne W; Vine, Roanna L; Kallmes, David F

    2017-06-01

    The majority of validation done on the Roland-Morris Disability Questionnaire (RMDQ) has been in patients with mild or moderate disability. There is paucity of research focusing on the psychometric quality of the RMDQ in patients with severe disability. To evaluate the psychometric quality of the RMDQ in patients with severe disability. Observational clinical study. The sample consisted of 214 patients with painful vertebral compression fractures who underwent vertebroplasty or kyphoplasty. The 23-item version of the RMDQ was completed at two time points: baseline and 30-day postintervention follow-up. With the two-parameter logistic unidimensional item response theory (IRT) analyses, we derived the range of scores that produced reliable measurement and investigated the minimal clinically important difference (MCID). Scores for 214 (100%) patients at baseline and 108 (50%) patients at follow-up did not meet the reliability criterion of 0.90 or higher, with the majority of patients having disability due to back pain that was too severe to be reliably measured by the RMDQ. Depending on methodology, MCID estimates ranged from 2 to 8 points and the proportion of patients classified as having experienced meaningful improvement ranged from 26% to 68%. A greater change in score was needed at the extreme ends of the score scale to be classified as having achieved MCID using IRT methods. Replacing items measuring moderate disability with items measuring severe disability could yield a version of the RMDQ that better targets patients with severe disability due to back pain. Improved precision in measuring disability would be valuable to clinicians who treat patients with greater functional impairments. Caution is needed when choosing criteria for interpreting meaningful change using the RMDQ. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. The Effects of Exercise with TENS on Spasticity, Balance, and Gait in Patients with Chronic Stroke: A Randomized Controlled Trial

    OpenAIRE

    Park, Junhyuck; Seo, Dongkwon; Choi, Wonjae; Lee, Seungwon

    2014-01-01

    Background Transcutaneous electrical nerve stimulation (TENS) is a useful modality for pain control. TENS has recently been applied to decrease spasticity. The purpose of this study is to determine whether the addition of TENS to an exercise program reduces spasticity and improves balance and gait in chronic stroke patients. Material/Methods This was a single-blinded, multicenter, randomized controlled trial. Thirty-four ambulatory individuals with chronic stroke participated and were randoml...

  7. Somatosensory inputs by application of KinesioTaping: Effects on spasticity, balance, and gait in chronic spinal cord injury

    Directory of Open Access Journals (Sweden)

    Federica eTamburella

    2014-05-01

    Full Text Available Introduction: Leg paralysis, spasticity, reduced inter limb coordination and impaired balance are considered the chief limitations to overground ambulation in subjects with incomplete spinal cord injury (SCI. In the last years KinesioTaping (KT application has been proposed for enhancing sensory inputs, decreasing spasticity via proprioception feedback and relieving abnormal muscle tension. No studies addressed KT technique on SCI subjects: our goal was to analyze effects of ankle joint KT application on spasticity, balance and gait. Material and Methods: A randomized cross-over case control design was used to compare KT and conventional non-elastic silk tape (ST application’s effects in 11 chronic SCI subjects, AIS level D, with soleus/gastrocnemius (S/G muscles’ spasticity , balance and gait impairments. Treatment: 48 hours of either KT or ST treatment was followed after 1 week interval by a reverse protocol. Patient treated with KT were subjected to 48 hours of ST treatment and viceversa. Single Y-stripe of Cure©tape (KT and ST were applied to S and G with 0% stretch. Before and after 48 hours of KT and ST application, clinical data of range of motion (ROM, spasticity, clonus, pain, balance and gait were collected. Stabilometric platform assessment of Centre of Pressure (COP movements, bi-dimensional gait analysis and electromyograpich (EMG activity of S, G, Tibialis Anterior and Extensor Hallicus Lungus muscles were also collected. Results: Only After KT treatment significant effects on spasticity, clonus and COP movements, kinematic gait parameters and EMG activities were recorded. Comparison between KT and ST improvements pointed out significant differences for ROM, spasticity, clonus, pain, COP parameters and most of all kinematic gait data. Discussion: KT short term application reduces spasticity and pain and improves balance and gait performances in chronic incomplete SCI subjects.

  8. Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis.

    Science.gov (United States)

    Rinaldi, Martina; Ranavolo, Alberto; Conforto, Silvia; Martino, Giovanni; Draicchio, Francesco; Conte, Carmela; Varrecchia, Tiwana; Bini, Fabiano; Casali, Carlo; Pierelli, Francesco; Serrao, Mariano

    2017-10-01

    The aim of this study was to investigate the lower limb muscle coactivation and its relationship with muscles spasticity, gait performance, and metabolic cost in patients with hereditary spastic paraparesis. Kinematic, kinetic, electromyographic and energetic parameters of 23 patients and 23 controls were evaluated by computerized gait analysis system. We computed ankle and knee antagonist muscle coactivation indexes throughout the gait cycle and during the subphases of gait. Energy consumption and energy recovery were measured as well. In addition to the correlation analysis between coactivation indexes and clinical variables, correlations between coactivation indexes and time-distance, kinematic, kinetic, and energetic parameters were estimated. Increased coactivity indexes of both knee and ankle muscles throughout the gait cycle and during the subphases of gait were observed in patients compared with controls. Energetic parameters were significantly higher in patients than in controls. Both knee and ankle muscle coactivation indexes were positively correlated with knee and ankle spasticity (Ashworth score), respectively. Knee and ankle muscle coactivation indexes were both positively correlated with energy consumption and both negatively correlated with energy recovery. Positive correlations between the Ashworth score and lower limb muscle coactivation suggest that abnormal lower limb muscle coactivation in patients with hereditary spastic paraparesis reflects a primary deficit linked to lower limb spasticity. Furthermore, these abnormalities influence the energetic mechanisms during walking. Identifying excessive muscle coactivation may be helpful in individuating the rehabilitative treatments and designing specific orthosis to restrain spasticity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Influence of Botulinum Toxin Therapy on Postural Control and Lower Limb Intersegmental Coordination in Children with Spastic Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Bernard Dan

    2013-01-01

    Full Text Available Botulinum toxin injections may significantly improve lower limb kinematics in gait of children with spastic forms of cerebral palsy. Here we aimed to analyze the effect of lower limb botulinum toxin injections on trunk postural control and lower limb intralimb (intersegmental coordination in children with spastic diplegia or spastic hemiplegia (GMFCS I or II. We recorded tridimensional trunk kinematics and thigh, shank and foot elevation angles in fourteen 3–12 year-old children with spastic diplegia and 14 with spastic hemiplegia while walking either barefoot or with ankle-foot orthoses (AFO before and after botulinum toxin infiltration according to a management protocol. We found significantly greater trunk excursions in the transverse plane (barefoot condition and in the frontal plane (AFO condition. Intralimb coordination showed significant differences only in the barefoot condition, suggesting that reducing the degrees of freedom may limit the emergence of selective coordination. Minimal relative phase analysis showed differences between the groups (diplegia and hemiplegia but there were no significant alterations unless the children wore AFO. We conclude that botulinum toxin injection in lower limb spastic muscles leads to changes in motor planning, including through interference with trunk stability, but a combination of therapies (orthoses and physical therapy is needed in order to learn new motor strategies.

  10. Influence of post-stroke spasticity on EMG-force coupling and force steadiness in biceps brachii.

    Science.gov (United States)

    Carlyle, Jennilee K; Mochizuki, George

    2018-02-01

    Individuals with spasticity after stroke experience a decrease in force steadiness which can impact function. Alterations in the strength of EMG-force coupling may contribute to the reduction in force steadiness observed in spasticity. The aim was to determine the extent to which force steadiness and EMG-force coupling is affected by post-stroke spasticity. This cross-sectional study involved individuals with upper limb spasticity after stroke. Participants were required to generate and maintain isometric contractions of the elbow flexors at varying force levels. Coefficient of variation of force, absolute force, EMG-force cross-correlation function peak and peak latency was measured from both limbs with surface electromyography and isometric dynamometry. Statistically significant differences were observed between the affected and less affected limbs for all outcome measures. Significant main effects of force level were also observed. Force steadiness was not statistically significantly correlated with EMG-force coupling; however, both force steadiness and absolute force were associated with the level of impairment as measured by the Chedoke McMaster Stroke Assessment Scale. Spasticity after stroke uncouples the relationship between EMG and force and is associated with reduced force steadiness during isometric contractions; however, these features of control are not associated in individuals with spasticity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. A single trial of transcutaneous electrical nerve stimulation (TENS) improves spasticity and balance in patients with chronic stroke.

    Science.gov (United States)

    Cho, Hwi-young; In, Tae Sung; Cho, Ki Hun; Song, Chang Ho

    2013-03-01

    Spasticity management is pivotal for achieving functional recovery of stroke patients. The purpose of this study was to investigate the effects of a single trial of transcutaneous electrical nerve stimulation (TENS) on spasticity and balance in chronic stroke patients. Forty-two chronic stroke patients were randomly allocated into the TENS (n = 22) or the placebo-TENS (n = 20) group. TENS stimulation was applied to the gastrocnemius for 60 min at 100 Hz, 200 µs with 2 to 3 times the sensory threshold (the minimal threshold in detecting electrical stimulation for subjects) after received physical therapy for 30 min. In the placebo-TENS group, electrodes were placed but no electrical stimulation was administered. For measuring spasticity, the resistance encountered during passive muscle stretching of ankle joint was assessed using the Modified Ashworth Scale, and the Hand held dynamometer was used to assess the resistive force caused by spasticity. Balance ability was measured using a force platform that measures postural sway generated by postural imbalance. The TENS group showed a significantly greater reduction in spasticity of the gastrocnemius, compared to the placebo-TENS group (p TENS resulted in greater balance ability improvements, especially during the eyes closed condition (p TENS provides an immediately effective means of reducing spasticity and of improving balance in chronic stroke patients. The present data may be useful to establish the standard parameters for TENS application in the clinical setting of stroke.

  12. Proximal femoral resection and articulated hip distraction with an external fixator for the treatment of painful spastic hip dislocations in pediatric patients with spastic quadriplegia.

    Science.gov (United States)

    Lampropulos, Mario; Puigdevall, Miguel H; Zapozko, Daniel; Malvárez, Héctor R

    2008-01-01

    We describe the results obtained with an alternative method of treatment for spastic painful hip dislocations in nonambulatory patients, which consists of a proximal femoral resection with capsular interposition arthroplasty, and the addition of a hinged external fixator for postoperative articulated hip distraction to allow for an immediate upright position and the ability to sit in a wheelchair. We performed this technique in three patients (four hips) with a mean age at the time of surgery of 15 years. Postoperatively, clinical improvement was observed in all four hips, with respect to pain relief, sitting tolerance, perineal care and functional range of motion.

  13. Cranial MRI findings in pediatric patients with bilateral spastic paralysis. Comparison with neonatal cranial echography and correlation with neurological sequelae

    International Nuclear Information System (INIS)

    Yamashita, Yushiro; Horikawa, Mizuho; Matsuishi, Toyojiro; Utsunomiya, Hidetsuna; Okudera, Toshio; Fukuda, Seiichi; Hashimoto, Takeo; Nakamura, Yasuhiro.

    1994-01-01

    Fourteen patients with bilateral spastic paralysis (an average age of 2 years and 5 months) were examined using magnetic resonance imaging (MRI). Common MRI findings were an enlarged cerebral ventricle, irregular wall, abnormal signal area in the vicinity of the cerebral ventricle, decrease in the content of white matter, and thickening of the callosum. These findings seemed to reflect pathological lesions in periventricular leukomalacia (PVL). Of 3 patients who had been diagnosed as having cystic PVL on neonatal ultrasonography, 2 had cystic lesions in the corresponding areas on MRI. In the other patient with cystic PVL, membrane-like wall between the cyst and the enlarged cerebral ventricle was different from that seen definitely in porencephalie on spin density images. In patients in whom PVL was missed on neonatal ultrasonography, MRI demonstrated PVL. There was correlation between MRI findings and neurological sequelae: the severity of exercise function tended to correlate with the degree of decreased white matter; however, there was no correlation between spread of abnormal signal areas and the severity of exercise function. (N.K.)

  14. Cranial MRI findings in pediatric patients with bilateral spastic paralysis. Comparison with neonatal cranial echography and correlation with neurological sequelae

    Energy Technology Data Exchange (ETDEWEB)

    Yamashita, Yushiro; Horikawa, Mizuho; Matsuishi, Toyojiro (Kurume Univ., Fukuoka (Japan). School of Medicine); Utsunomiya, Hidetsuna; Okudera, Toshio; Fukuda, Seiichi; Hashimoto, Takeo; Nakamura, Yasuhiro

    1994-08-01

    Fourteen patients with bilateral spastic paralysis (an average age of 2 years and 5 months) were examined using magnetic resonance imaging (MRI). Common MRI findings were an enlarged cerebral ventricle, irregular wall, abnormal signal area in the vicinity of the cerebral ventricle, decrease in the content of white matter, and thickening of the callosum. These findings seemed to reflect pathological lesions in periventricular leukomalacia (PVL). Of 3 patients who had been diagnosed as having cystic PVL on neonatal ultrasonography, 2 had cystic lesions in the corresponding areas on MRI. In the other patient with cystic PVL, membrane-like wall between the cyst and the enlarged cerebral ventricle was different from that seen definitely in porencephalie on spin density images. In patients in whom PVL was missed on neonatal ultrasonography, MRI demonstrated PVL. There was correlation between MRI findings and neurological sequelae: the severity of exercise function tended to correlate with the degree of decreased white matter; however, there was no correlation between spread of abnormal signal areas and the severity of exercise function. (N.K.).

  15. Due diligence

    International Nuclear Information System (INIS)

    Sanghera, G.S.

    1999-01-01

    The Occupational Health and Safety (OHS) Act requires that every employer shall ensure the health and safety of workers in the workplace. Issues regarding the practices at workplaces and how they should reflect the standards of due diligence were discussed. Due diligence was described as being the need for employers to identify hazards in the workplace and to take active steps to prevent workers from potentially dangerous incidents. The paper discussed various aspects of due diligence including policy, training, procedures, measurement and enforcement. The consequences of contravening the OHS Act were also described

  16. The effect of spasticity, sense and walking aids in falls of people after chronic stroke.

    Science.gov (United States)

    Soyuer, Ferhan; Oztürk, Ahmet

    2007-05-15

    To study the effects of spasticity, sensory impairment, and type of walking aid on falls in community dwellers with chronic stroke. Functional Independence Measure (FIM) Instrument, Joint Position Sense Evaluation (JPS), the Rivermead motor assessment scale (RMA), Ashworth Scale, Tinetti Assessment Tool were used to assess 100 cases. Fifty-three of the cases were grouped as nonfallers, 36 as one-time fallers and 11 as repeat fallers. These 3 groups were found to be different from each other in respect to FIM, Tinetti test and RMA (p cane, 41.9% high cane). According to Ordinal logistic regression analysis, it was found that the possibility of fall increased (p fall of the individuals with stroke decreased (p falls, spasticity is also an indicator for chronic stroke patients, as is motor impairment, functional situation, impairment of balance and walking. Sensory impairment, using a walking aid and the type were found to be ineffective.

  17. Assessing the immediate impact of botulinum toxin injection on impedance of spastic muscle.

    Science.gov (United States)

    Li, Xiaoyan; Shin, Henry; Li, Le; Magat, Elaine; Li, Sheng; Zhou, Ping

    2017-05-01

    This study aimed to investigate the immediate impacts of Botulinum Toxin A (BoNT-A) injections on the inherent electrical properties of spastic muscles using a newly developed electrical impedance myography (EIM) technique. Impedance measures were performed before and after a BoNT-A injection in biceps brachii muscles of 14 subjects with spasticity. Three major impedance variables, resistance (R), reactance (X) and phase angle (θ) were obtained from three different configurations, and were evaluated using the conventional EIM frequency at 50kHz as well as multiple frequency analysis. Statistical analysis demonstrated a significant decrease of resistance in the injected muscles (Multiple-frequency: R pre =25.17±1.94Ohm, R post =23.65±1.63Ohm, ptoxin effects on the muscle. This study demonstrated high sensitivity of the EIM technique in the detection of alterations to muscle composition. Copyright © 2017 IPEM. Published by Elsevier Ltd. All rights reserved.

  18. Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.

    Science.gov (United States)

    Sıklar, Zeynep; Berberoğlu, Merih; Legendre, Maria; Amselem, Serge; Evliyaoğlu, Olcay; Hacıhamdioğlu, Bülent; Savaş Erdeve, Senay; Oçal, Gönül

    2010-01-01

    Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (-8.6 SD) and 117 cm (-6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (-1.5 SD) in patient 1 and 153 cm (-1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss-of-function mutations in GHRHR, their final heights reached the target height.

  19. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

    Science.gov (United States)

    Timmerman, Vincent; Clowes, Virginia E; Reid, Evan

    2013-08-01

    In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. Copyright © 2012 Elsevier Inc. All rights reserved.

  20. Effect of joint mobilization on the H Reflex amplitude in people with spasticity

    OpenAIRE

    Pérez Parra, Julio Ernesto; Henao Lema, Claudia Patricia

    2011-01-01

    Objective: To determine the effect of ankle joint mobilization on the H reflex amplitude of thesoleus muscle in people with spasticity. Materials and methods: A quasi-experimental study withcrossover design and simple masking was conducted in 24 randomized subjects to initiate thecontrol or experimental group. Traction and rhythmic oscillation were applied for five minutesto the ankle joint. H wave amplitude changes of Hoffmann reflex (electrical equivalent of themonosynaptic spinal reflex) w...

  1. Delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia.

    Science.gov (United States)

    Gao, Fei; Mei, Xi; Chen, Andrew C N

    2015-02-01

    Information on fine motor and basic cognitive functions in spastic diplegia is sparse in the literature. The aim of this study was to investigate index finger's tapping speed and cognitive functions in categorization and old/new recognition of pictures in patients with mild spastic diplegia. Fifteen preterm-born male teenagers with mild spastic diplegia and 15 healthy male teenagers participated in this study. Finger-tapping tests and cognitive tests were performed on all participants. Outcomes were compared between the two groups. In the finger-tapping tests, the tapping speed was significantly slower in patients than in controls. In the tests of tapping one key persistently and tapping two keys alternately, the reaction time gaps between the left and right digits were larger in patients than in controls. In the categorization tests, the accuracies and reaction times for animal/plant and girl face pictures, but not for boy face pictures, were significantly worse in patients than in controls. In the recognition tests, the accuracies for old/new, animal/plant, and boy/girl face pictures were significantly lower in patients than in controls. The reaction times for old/new, animal/plant, and new face pictures, but not for old face pictures, were significantly longer in patients compared with controls. Our results demonstrate delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia. Our experimental paradigm is sensitive for the study of fine motor and cognitive functions between patients and healthy controls. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Non-motor Symptoms In Patients With Hereditary Spastic Paraplegia Caused By Spg4 Mutations.

    OpenAIRE

    Servelhere, K R; Faber, I; Saute, J A M; Moscovich, M; D'Abreu, A; Jardim, L B; Teive, H A G; Lopes-Cendes, I; Franca, M C

    2016-01-01

    Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue sc...

  3. The contribution of cognition and spasticity to driving performance in multiple sclerosis.

    Science.gov (United States)

    Marcotte, Thomas D; Rosenthal, Theodore J; Roberts, Erica; Lampinen, Sara; Scott, J Cobb; Allen, R Wade; Corey-Bloom, Jody

    2008-09-01

    To examine the independent and combined impact of cognitive dysfunction and spasticity on driving tasks involving high cognitive workload and lower-limb mobility in persons with multiple sclerosis (MS). Single-visit cohort study. Clinical research center. Participants included 17 drivers with MS and 14 referent controls. The group with MS exhibited a broad range of cognitive functioning and disability. Of the 17 patients with MS, 8 had significant spasticity in the knee used to manipulate the accelerator and brake pedals (based on the Modified Ashworth Scale). Not applicable. A brief neuropsychologic test battery and 2 driving simulations. Simulation 1 required participants to maintain a constant speed and lane position while attending to a secondary task. Simulation 2 required participants to adjust their speed to accelerations and decelerations of a lead car in front of them. Patients with MS showed greater variability in lane position (effect size, g=1.30), greater difficulty in maintaining a constant speed (g=1.25), and less ability to respond to lead car speed changes (g=1.85) compared with controls. Within the MS group, in a multivariate model that included neuropsychologic and spasticity measures, cognitive functioning was the strongest predictor of difficulty in maintaining lane position during the divided attention task and poor response time to lead car speed changes, whereas spasticity was associated with reductions in accuracy of tracking the lead car movements and speed maintenance. In this preliminary study, cognitive and physical impairments associated with MS were related to deficits in specific components of simulated driving. Assessment of these factors may help guide the clinician regarding the types of driving behaviors that would put patients with MS at an increased risk for an automobile crash.

  4. Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

    Directory of Open Access Journals (Sweden)

    Kye Won Park

    2017-09-01

    Full Text Available Oculodentodigital dysplasia (ODDD is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

  5. Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump.

    Science.gov (United States)

    Ginsburg, Glen M; Lauder, Anthony J

    2007-11-15

    Medical and radiographic review of 19 consecutive patients with spastic quadriplegia before and after intrathecal baclofen pump insertion with special attention paid to progression of scoliosis. Many orthopedic surgeons who treat spastic quadriplegic patients have noticed a trend of marked scoliosis progression after the administration of intrathecal baclofen (ITB) via subcutaneous pump and catheter. The purpose of this study is to quantify scoliosis progression in this patient population before and after baclofen administration and compare this to published natural history data. The authors had noted rapid progression of scoliosis in spastic quadriplegic patients after intrathecal baclofen pump insertion. This had been noted at other centers, but no significant statistical analysis had been done comparing prepump to postpump scoliosis progression in these patients. To document the magnitude and rate of scoliosis progressions after the placement of an ITB pump, the charts and radiographs of 19 consecutive nonambulatory patients with spastic quadriplegia and an ITB pump were reviewed. To document the rate of scoliosis progression, each patient had at least 2 pre and 2 postpump insertion spinal radiographs made. All radiographs were made with the patients in the supine position without orthoses. A board-certified orthopedic surgeon reviewed these radiographs. Skeletal maturity was assessed using Risser grading. Catheter tip location and rate of baclofen administration were recorded. For 19 patients with complete radiographic data, average Cobb angles were 10.2 degrees before pump insertion and 25 degrees at an average of 20.9 months after pump insertion (P quadriplegia and ITB pump. The authors are now performing spinal fusions for curves that exceed 40 degrees to 50 degrees in the presence of an ITB pump as recommended by previous reviews of scoliosis and accompanying quadriplegia.

  6. Evaluation of Spasticity Variations at the Elbow Joint of CVA Patients According to the Biomechanical Indices

    Directory of Open Access Journals (Sweden)

    Nima Soleimanzadeh-Ardabili

    2013-10-01

    Full Text Available Objective: The goal of the present study was to evaluate spasticity variations by increase the velocity of motion and MAS value in the elbow flexor and extensor muscles at extension and flexion of CVA patients elbow joint according to the biomechanical indices. Materials & Methods: Fifteen adult patients with a history of stroke and upper-extremity spasticity volunteered to participate in this study and fifteen healthy subjects were recruited in order to establish the control group. The degree of spasticity was evaluated for each patient using the MAS. CPM tests were imposed in elbow extension and flexion and the biomechanical indices were calculated at each of the following velocities: 15, 45, 75 and 120 º/s. Results: It seemed a regular increment of the viscoelastic and viscose stiffness indices by increasing the velocity of motion and the rate of MAS value in both extension and flexion in all test groups and also there was significant regular increment of elastic stiffness index by increasing the velocity in both extension and flexion between the control group and group 1 and also irregular increment between group1 and group 2 and 3 and also the effect of mentioned index was decreased at higher level of MAS. Conclusion: it seemed the more effect of elastic stiffness in spasticity in CVA patients at lower level of MAS and more effect of viscose stiffness in higher level of MAS and also results showed the increment of viscose stiffness by increment of speed of motion and the rate of MAS.

  7. Clinical experience with THC:CBD oromucosal spray in patients with multiple sclerosis-related spasticity.

    Science.gov (United States)

    Koehler, Jürgen; Feneberg, Wolfgang; Meier, Martin; Pöllmann, Walter

    2014-09-01

    This detailed medical charts' data collection study conducted at a multiple sclerosis (MS) clinic in Germany evaluated the effectiveness of tetrahydrocannabinol (THC)/cannabidiol (CBD) oromucosal spray in patients with resistant MS spasticity. Over a 15-month timeframe, THC:CBD spray was initiated in 166 patients. Mean follow-up was 9 months. In all, 120 patients remained on treatment for a response rate of 72%. THC:CBD spray was used as add-on therapy in 95 patients and as monotherapy in 25 patients to achieve best-possible therapeutic results. Among responders, the mean spasticity 0-10 numerical rating scale (NRS) score decreased by 57%, from 7.0 before treatment to 3.0 within 10 days of starting THC:CBD spray. The mean dosage was 4 sprays/day. Most patients who withdrew from treatment (40/46) had been receiving THC:CBD spray for less than 60 days. Main reasons for treatment discontinuation were: adverse drug reactions, mainly dizziness, fatigue and oral discomfort (23 patients; 13.9%); lack of efficacy (14 patients; 8.4%); or need for a baclofen pump (9 patients; 5.4%). No new safety signals were noted with THC:CBD spray during the evaluation period. In this routine clinical practice setting at an MS clinic in Germany, THC:CBD spray was effective and well tolerated as add-on therapy or as monotherapy in a relevant proportion of patients with resistant MS spasticity.

  8. Effects of hippotherapy on gait parameters in children with bilateral spastic cerebral palsy.

    Science.gov (United States)

    Kwon, Jeong-Yi; Chang, Hyun Jung; Lee, Ji Young; Ha, Yumi; Lee, Peter K; Kim, Yun-Hee

    2011-05-01

    To evaluate the effects of hippotherapy on temporospatial parameters and pelvic and hip kinematics of gait in children with bilateral spastic cerebral palsy. Nonrandomized prospective controlled trial. Outpatient therapy center. Children (N=32) with bilateral spastic cerebral palsy, Gross Motor Function Classification System level 1 or 2. Hippotherapy (30 min twice weekly for 8 consecutive weeks). Temporospatial parameters and pelvic and hip kinematic parameters in 3-dimensional motion analysis, Gross Motor Function Measure (GMFM)-88, and score for dimensions D (standing) and E (walking, running, jumping) of the GMFM, GMFM-66, and Pediatric Balance Scale (PBS). Hippotherapy significantly improved walking speed, stride length, and pelvic kinematics (average pelvic anterior tilt, pelvic anterior tilt at initial contact, pelvic anterior tilt at terminal stance). Scores for dimension E of the GMFM, GMFM-66 and PBS also increased. Hippotherapy provided by licensed health professionals using the multidimensional movement of the horse may be used in conjunction with standard physical therapy for improvement of gait and balance in children with bilateral spastic cerebral palsy. Copyright © 2011 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  9. Classification of topographical pattern of spasticity in cerebral palsy: a registry perspective.

    Science.gov (United States)

    Reid, Susan M; Carlin, John B; Reddihough, Dinah S

    2011-01-01

    This study used data from a population-based cerebral palsy (CP) registry and systematic review to assess the amount of heterogeneity between registries in topographical patterns when dichotomised into unilateral (USCP) and bilateral spastic CP (BSCP), and whether the terms diplegia and quadriplegia provide useful additional epidemiological information. From the Victorian CP Register, 2956 individuals (1658 males, 1298 females), born 1970-2003, with spastic CP were identified. The proportions with each topographical pattern were analysed overall and by gestational age. Binary logistic regression analysis was used to assess temporal trends. For the review, data were systematically collected on topographical patterns from 27 registries. Estimates of heterogeneity were obtained, overall and by region, reporting period and definition of quadriplegia. Among individuals born <32 weeks, 48% had diplegia, whereas the proportion for children born ≥ 32 weeks was 24% (p < 0.001). Evidence was weak for a temporal trend in the relative proportions of USCP and BSCP (p = 0.038), but much clearer for an increase in the proportion of spastic diplegia relative to quadriplegia (p < 0.001). The review revealed wide variations across studies in the proportion of diplegia (range 34-90%) and BSCP (range 51-86%). These findings argue against a topographical classification based solely on laterality. Copyright © 2011 Elsevier Ltd. All rights reserved.

  10. Muscle torque of healthy individuals and individuals with spastic hemiparesis after passive static streching.

    Science.gov (United States)

    Tatsukawa DE Freitas, Sérgio Takeshi; DE Carvalho Abreu, Elizângela Márcia; Dos Reis, Mariane Cecilia; DE Souza Cunha, Bruna; Souza Moreira Prianti, Tamires; Pupio Silva Lima, Fernanda; Oliveira Lima, Mário

    2016-01-01

    Spasticity is one of the main causes of contracture, muscle weakness and subsequent functional incapacity. The passive static stretching can be included as having the purpose of increasing musculoskeletal flexibility, however, it also can influence the muscle torque. The objective is to verify the immediate effect of passive static stretching in the muscle strength of healthy and those who present spastic hemiparesis. There were assessed 20 subjects, 10 spastic hemiparetic (EG) and 10 healthy individuals (CG), including both sexes, aged between 22 and 78 years. The torque of extensor muscles of the knee was analyzed using isokinetic dynamometer. Results have shown that EG has less muscle torque compared to CG ( p torque after stretching ( p torque of CG after performing the program that was prescribed. Immediately after the passive stretch, a significant torque decrease can be seen in hypertonic muscle; it is believed that this reduction may be associated with the physiological overlap between actin and myosin filaments and so preventing the muscle to develop a maximum contraction.

  11. IMPACT OF BODY WEIGHT SUPPORTED BACKWARD TREADMILL TRAINING ON WALKING SPEED IN CHILDREN WITH SPASTIC DIPLEGIA

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    Hamada El Sayed Abd Allah Ayoub

    2016-10-01

    Full Text Available Background: A lot of the ambulating children with spastic diplegia were able to walk with flexed hips, knees and ankles this gait pattern is known as crouch gait. The most needed functional achievement of diplegic children habilitation is to be able to walk appropriately. The development of an independent and efficient walking is one of the main objectives for children with cerebral palsy especially those with spastic diplegia. Method: Twenty children with spastic diplegia enrolled in this study, they were classified into two groups of equal number, eligibility to our study were ages ranged from seven to ten years, were able to ambulate, They had gait problems and abnormal gait kinematics. The control group (A received selected physical therapy program based on neurodevelopmental approach for such cases, while the study group (B received partial body weight supported backward treadmill training in addition to regular exercise program. Gait pattern was assessed using the Biodex Gait Trainer II for each group pre and post three months of the treatment program. Results: There was statistically significant improvement in walking speed in the study group (P<0.05 with significant difference when comparing post treatment results between groups (p<0.05. Conclusion: These findings suggested that partial body weight supported backward treadmill training can be included as a supplementary therapeutic modality to improve walking speed and functional abilities of children with diplegic cerebral palsy.

  12. Neurological manifestations in individuals with HTLV-1-associated myelopathy/tropical spastic paraparesis in the Amazon.

    Science.gov (United States)

    Dias, G A S; Yoshikawa, G T; Koyama, R V L; Fujihara, S; Martins, L C S; Medeiros, R; Quaresma, J A S; Fuzii, H T

    2016-02-01

    A cross-sectional observational study was conducted. The aim was to analyze the clinical-functional profile of patients diagnosed with HTLV-1 (human T-lymphotropic virus type 1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in the Amazon region. Reference center for HTLV in the city of Belém, state of Pará, Brazil. Muscle strength, muscle tone, balance and the need for gait assistance among patients with HAM/TSP were evaluated. Among the 82 patients infected with HTLV-1, 27 (10 men and 17 women) were diagnosed with HAM/TSP. No statistically significant difference in muscle tone or strength was found between the lower limbs. Muscle weakness and spasticity were predominant in the proximal lower limbs. Patients with HAM/TSP are at a high risk of falls (P=0.03), and predominantly use either a cane or a crutch on one side as a gait-assistance device (P=0.02). Patients with HAM/TSP exhibit a similar clinical pattern of muscle weakness and spasticity, with a high risk of falls, requiring gait-assistance devices.

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

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    Brown Anthony

    2010-11-01

    Full Text Available Abstract 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.

  14. Epidemiological, humanistic, and economic burden of illness of lower limb spasticity in adults: a systematic review

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    Martin A

    2014-01-01

    Full Text Available Alison Martin,1 Seye Abogunrin,1 Hannah Kurth,2 Jerome Dinet2 1Evidera, London, UK; 2Ipsen, Boulogne Billancourt Cedex, France Background: The purpose of this study was to investigate the epidemiological, humanistic, and economic burden of illness associated with adult lower limb spasticity (LLS and its complications. Methods: A systematic search of MEDLINE and EMBASE identified 23 studies published between January 2002 and October 2012 that assessed the epidemiology, impact, and resource use associated with LLS. A hand-search of four neurology conferences identified abstracts published between 2010 and 2012. Results: LLS was found to occur in one third of adults after stroke, half to two thirds with multiple sclerosis, and three quarters with cerebral palsy. LLS limits mobility and reduces quality of life. No clear association was found between LLS and occurrence of pain, development of contractures, or risk of falls. Conclusion: The evidence on the burden of LLS and its complications is surprisingly limited given the condition's high prevalence among adults with common disorders, such as stroke. Further research is needed to clarify the impact of LLS, including the likelihood of thrombosis in spastic lower limbs. The dearth of high-quality evidence for LLS suggests a lack of awareness of, and interest in, the problem, and therefore, the unmet need among patients and their carers. Keywords: muscle spasticity, cost of illness, complications, quality of life

  15. Botulinum toxin type A chemodenervation treatment in spastic forms of cerebral palsy

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    A. L. Kurenkov

    2013-01-01

    Full Text Available Cerebral palsy (CP is one of the most serious outcomes of the perinatal lesion of central nervous system and the most common reason for neurological disability in children. Being the key cause of pathological dynamic stereotypes that frequently result in pathological posture and contractures, spasticity is critically important for CP. The use of botulinum toxin type A (BTA in complex treatment 2-6 years old CP patients allows significantly to improve motor abilities, help to change the surgical procedure, delay or even avoid some types of surgery. For elder children the use of BTA allows to improve local motor impairment. The treatment of spasticity in CP with BTA is safe (evidence level A and highly effective (evidence level A. It leads to the positive change of pathological dynamic stereotype, significantly improves gait, decreases muscle tone with Ashworth and Tardeu scales and rises the gross motor function score. Our own experience of onabotulinumtoxinA treatment as a part of complex therapy in 68 patients with spastic forms of CP demonstrates the significant improvement of motor function, most noticeable in younger patients(early pre-school age with GMFS I-III.

  16. Swedish Massage and Abnormal Reflexes of Children with Spastic Cerebral Palsy

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    Vida Alizad

    2007-09-01

    Full Text Available Objectives: Massage therapy is one of the most widely used complementary and alternative medicine therapies for children. This study was conducted to determine the effect of wedish massage on abnormal reflexes in children with spastic cerebral palsy (CP. Methods: This study was a single blind clinical trial conducted on forty children with spastic CP who were recruited from clinics of the University of Social Welfare & Rehabilitation Sciences. They were randomly assigned to intervention and control groups. The routine occupational therapy (OT techniques were performed during a 3 month-period in both groups. The intervention group also received Swedish massage for 30 minutes before every OT session. Primary, spinal, brain stem, midbrain, cortical and automatic reflexes were evaluated at the beginning of the study and 3 months later. The data analysis was done by parametric and nonparametric tests. Results: Finally, thirteen subjects in the intervention group and 14 subjects in the control group were remained and studied. The average ages in the intervention and control groups were 49.5 and 42.1 months respectively. There were no statistically significant differences in abnormal reflexes in the intervention group in comparison to the control (P>0.05. Discussion: Adding Swedish massage to traditional OT techniques had no significant effects on abnormal reflexes in children with spastic cerebral palsy. Evidently more research is required in order to completely reject the effects of Swedish massage on abnormal reflexes of children with CP.

  17. Effects of interactive games on motor performance in children with spastic cerebral palsy.

    Science.gov (United States)

    AlSaif, Amer A; Alsenany, Samira

    2015-06-01

    [Purpose] Motor control and muscle strength impairments are the prime reasons for motor behavior disorders in children with spastic cerebral palsy. These impairments lead to histological changes in muscle growth and the learning of motor skills. Therefore, such children experience reduced muscle force generation and decreased muscle flexibility. We investigated the effect of training with Nintendo Wii Fit games on motor performance in children with spastic cerebral palsy. [Subjects and Methods] Forty children with cerebral palsy spastic diplegia aged 6-10 years diagnosed with level-3 functional capabilities according to the Gross Motor Classification System (GMFCS) were enrolled. Participants were divided randomly into equal groups: group (A) that practiced with the Nintendo Wii Fit game for at least 20 minutes/day for 12 weeks and group (B) that underwent no training (control group). The Movement Assessment Battery for Children-2 (mABC-2) was used to assess motor performance, because it mainly involves motor tasks very similar to those involved in playing Nintendo Wii Fit games, e.g., goal-directed arm movements, balancing, and jumping. [Results] There were significant improvements in the subscales of the motor performance test of those who practiced with the Nintendo Wii, while the control group showed no significant changes. [Conclusion] Using motion interactive games in home rehabilitation is feasible for children with cerebral palsy.

  18. The role of kinesiotaping combined with botulinum toxin to reduce plantar flexors spasticity after stroke.

    Science.gov (United States)

    Karadag-Saygi, Evrim; Cubukcu-Aydoseli, Koza; Kablan, Nilufer; Ofluoglu, Demet

    2010-01-01

    To evaluate the effect of kinesiotaping as an adjuvant therapy to botulinum toxin A (BTX-A) injection in lower extremity spasticity. This is a single-center, randomized, and double-blind study. Twenty hemiplegic patients with spastic equinus foot were enrolled into the study and randomized into 2 groups. The first group (n=10) received BTX-A injection and kinesiotaping, and the second group (n=10) received BTX-A injection and sham-taping. Clinical assessment was done before injection and at 2 weeks and 1, 3, and 6 months. Outcome measures were modified Ashworth scale (MAS), passive ankle dorsiflexion, gait velocity, and step length. Improvement was recorded in both kinesiotaping and sham groups for all outcome variables. No significant difference was found between groups other than passive range of motion (ROM), which was found to have increased more in the kinesiotaping group at 2 weeks. There is no clear benefit in adjuvant kinesiotaping application with botulinum toxin for correction of spastic equinus in stroke.

  19. New approaches in the management of spasticity in multiple sclerosis patients: role of cannabinoids

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    Paul F Smith

    2010-02-01

    Full Text Available Paul F SmithDepartment of Pharmacology and Toxicology, School of Medical Sciences, University of Otago, Dunedin, New ZealandAbstract: Cannabinoids such as Cannabis-based medicinal extracts (CBMEs are increasingly being used in the treatment of spasticity associated with multiple sclerosis (MS. They have been shown to have a beneficial effect on spasticity; however, this evidence is largely based on subjective rating scales. Objective measurements using the Ashworth scale have tended to show no significant effect; however, the validity of this scale has been questioned. The available clinical trial data suggest that the adverse side effects associated with using CBMEs are generally mild, such as dry mouth, dizziness, somnolence, nausea and intoxication. However, most of these trials were run over a period of months and it is possible that other adverse side effects could develop with long-term use. There may be reason to be concerned about the use of therapeutic cannabinoids by adolescents, people predisposed to psychosis and pregnant women.Keywords: multiple sclerosis, spasticity, cannabinoids, Cannabis

  20. Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy

    DEFF Research Database (Denmark)

    Overgård, Tinett Martesen; Kjærsgaard-Hansen, Lars; Søe, Morten

    2015-01-01

    INTRODUCTION: Treatment of severe spasticity and dystonia with intrathecal baclofen (ITB) in children has been shown to be effective and has therefore been employed in the Region of Southern Denmark. The aim of this retrospective study was to analyse the efficacy and adverse events since ITB was ...

  1. What is the risk of death or severe harm due to bone cement implantation syndrome among patients undergoing hip hemiarthroplasty for fractured neck of femur? A patient safety surveillance study

    Science.gov (United States)

    Rutter, Paul D; Panesar, Sukhmeet S; Darzi, Ara; Donaldson, Liam J

    2014-01-01

    Objective To estimate the risk of death or severe harm due to bone cement implantation syndrome (BCIS) among patients undergoing hip hemiarthroplasty for fractured neck of femur. Setting Hospitals providing secondary and tertiary care throughout the National Health Service (NHS) in England and Wales. Participants Cases reported to the National Reporting and Learning System (NRLS) in which the reporter clearly describes severe acute patient deterioration associated with cement use in hip hemiarthroplasty for fractured neck of femur (assessed independently by two reviewers). Outcome measures Primary—number of reported deaths, cardiac arrests and periarrests per year. Secondary—timing of deterioration and outcome in relation to cement insertion. Results Between 2005 and 2012, the NRLS received 62 reports that clearly describe death or severe harm associated with the use of cement in hip hemiarthroplasty for fractured neck of femur. There was one such incident for every 2900 hemiarthroplasties for fractured neck of femur during the period. Of the 62 reports, 41 patients died, 14 were resuscitated from cardiac arrest and 7 from periarrest. Most reports (55/62, 89%) describe acute deterioration occurring during or within a few minutes of cement insertion. The vast majority of deaths (33/41, 80%) occurred on the operating table. Conclusions These reports provide narrative evidence from England and Wales that cement use in hip hemiarthroplasty for fractured neck of femur is associated with instances of perioperative death or severe harm consistent with BCIS. In 2009, the National Patient Safety Agency publicised this issue and encouraged the use of mitigation measures. Three-quarters of the deaths in this study have occurred since that alert, suggesting incomplete implementation or effectiveness of those mitigation measures. There is a need for stronger evidence that weighs the risks and benefits of cement in hip hemiarthroplasty for fractured neck of femur. PMID

  2. Cortical bone deficit and fat infiltration of bone marrow and skeletal muscle in ambulatory children with mild spastic cerebral palsy.

    Science.gov (United States)

    Whitney, Daniel G; Singh, Harshvardhan; Miller, Freeman; Barbe, Mary F; Slade, Jill M; Pohlig, Ryan T; Modlesky, Christopher M

    2017-01-01

    Nonambulatory children with severe cerebral palsy (CP) have underdeveloped bone architecture, low bone strength and a high degree of fat infiltration in the lower extremity musculature. The present study aims to determine if such a profile exists in ambulatory children with mild CP and if excess fat infiltration extends into the bone marrow. Ambulatory children with mild spastic CP and typically developing children (4 to 11years; 12/group) were compared. Magnetic resonance imaging was used to estimate cortical bone, bone marrow and total bone volume and width, bone strength [i.e., section modulus (Z) and polar moment of inertia (J)], and bone marrow fat concentration in the midtibia, and muscle volume, intermuscular, subfascial, and subcutaneous adipose tissue (AT) volume and intramuscular fat concentration in the midleg. Accelerometer-based activity monitors worn on the ankle were used to assess physical activity. There were no group differences in age, height, body mass, body mass percentile, BMI, BMI percentile or tibia length, but children with CP had lower height percentile (19th vs. 50th percentile) and total physical activity counts (44%) than controls (both pChildren with CP also had lower cortical bone volume (30%), cortical bone width in the posterior (16%) and medial (32%) portions of the shaft, total bone width in the medial-lateral direction (15%), Z in the medial-lateral direction (34%), J (39%) and muscle volume (39%), and higher bone marrow fat concentration (82.1±1.8% vs. 80.5±1.9%), subfascial AT volume (3.3 fold) and intramuscular fat concentration (25.0±8.0% vs. 16.1±3.3%) than controls (all pfat infiltration estimates, except posterior cortical bone width, were still present (all pchildren with CP compared to controls emerged (pchildren with mild spastic CP exhibit an underdeveloped bone architecture and low bone strength in the midtibia and a greater infiltration of fat in the bone marrow and surrounding musculature compared to typically

  3. Spastic paraparesis as a complication of percutaneous nephrolithothripsy (PNL) on a calyceal calculus of the left kidney.

    Science.gov (United States)

    Pellegrinelli, Moira; Castiglioni, Claudia; Morini, Osvaldo; Franzini, Aldo

    2007-12-01

    A patient developed spastic paraparesis after surgery with ultrasound lithothripsy and litholapaxy of fragments of a renal calyceal calculus in middle-upper diverticulum. It was first assumed that the event could be due to transient spinal ischemia, caused by vasospasm of Adamkiewicz artery, secondary to blood engorgement of the area around the vessel. In order to clarify possible implications of medical liability, the Authors took into account the etio-pathogenetic mechanisms of the complication and analyzed the medico-legal aspects, with particular reference to the indication for surgery, which was not absolute in the case under scrutiny. In connection with the latter aspect, the Authors considered the conclusions of a recent sentence of the Court of Milan, whereby, despite the negative opinion of the experts specifically appointed, a case of medical liability was identified as a consequence of algodystrophy resulting from a cardiosurgical intervention. According to the Court, it is for the medical staff to demonstrate that they did all they could to prevent the complication and that such complication did not arise from a mistake on their part.

  4. Effect of repetitive transcranial magnetic stimulation on reducing spasticity in patients suffering from HTLV-1-associated myelopathy.

    Science.gov (United States)

    Amiri, Mostafa; Nafissi, Shahriar; Jamal-Omidi, Shirin; Amiri, Motahareh; Fatehi, Farzad

    2014-12-01

    Human T-lymphotropic virus type 1 has been implicated in human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Regarding its endemicity in Iran and the role of repetitive transcranial magnetic stimulation in reducing spasticity, we decided to evaluate the efficacy of repetitive transcranial magnetic stimulation in reducing spasticity (as primary outcome) and pain, muscle power, and quality of life (as secondary outcomes) in patients suffering from HAM/TSP. In this pretest-posttest study, nine definite patients with HAM/TSP (according to WHO guidelines) were recruited. All patients underwent five consecutive daily sessions of active repetitive transcranial magnetic stimulation (each session consisting of 20 trains of 10 pulses at 5 Hz and an intensity of 90% of resting motor threshold for the biceps brachii muscle). Main outcome measures including spasticity (by modified Ashworth scale), pain (by visual analog scale), muscle power, and quality of life (by SF 36) were measured before the study and days 5, 7, 30 after the termination of the sessions. Seven (77.8%) females and 2 (22.2%) males were recruited with the mean age of 52 ± 12.67 years, and the mean duration of the disease was 5 ± 3.94. Comparison of the repeated measures showed a statistically significant decrease in pain and spasticity in lower limbs. The decrement in spasticity was persistent even 30 days after the intervention; however, the pain reduction was seen only 5 days after the procedure. No change in quality of life, and muscle power was detected. It seems that repetitive transcranial magnetic stimulation could decrease spasticity and pain in patients with HAM/TSP, and this effect could persistently continue by 1 month, but it did not influence patients' muscle power and quality of life, and it could be used as an adjuvant therapy in patients suffering from human T-lymphotropic virus type 1-associated HAM/TSP.

  5. Phase-II Clinical Validation of a Powered Exoskeleton for the Treatment of Elbow Spasticity.

    Science.gov (United States)

    Crea, Simona; Cempini, Marco; Mazzoleni, Stefano; Carrozza, Maria Chiara; Posteraro, Federico; Vitiello, Nicola

    2017-01-01

    Introduction: Spasticity is a typical motor disorder in patients affected by stroke. Typically post-stroke rehabilitation consists of repetition of mobilization exercises on impaired limbs, aimed to reduce muscle hypertonia and mitigate spastic reflexes. It is currently strongly debated if the treatment's effectiveness improves with the timeliness of its adoption; in particular, starting intensive rehabilitation as close as possible to the stroke event may counteract the growth and postpone the onset of spasticity. In this paper we present a phase-II clinical validation of a robotic exoskeleton in treating subacute post-stroke patients. Methods: Seventeen post-stroke patients participated in 10 daily rehabilitation sessions using the NEUROExos Elbow Module exoskeleton, each one lasting 45 min: the exercises consisted of isokinetic passive mobilization of the elbow, with torque threshold to detect excessive user's resistance to the movement. We investigated the safety by reporting possible adverse events, such as mechanical, electrical or software failures of the device or injuries or pain experienced by the patient. As regards the efficacy , the Modified Ashworth Scale, was identified as primary outcome measure and the NEEM metrics describing elbow joint resistance to passive extension (i.e., maximum extension torque and zero-torque angle) as secondary outcomes. Results: During the entire duration of the treatments no failures or adverse events for the patients were reported. No statistically significant differences were found in the Modified Ashworth Scale scores, between pre-treatment and post-treatment and between post-treatment and follow-up sessions, indicating the absence of spasticity increase throughout (14 days) and after (3-4 months follow-up) the treatment. Exoskeleton metrics confirmed the absence of significant difference in between pre- and post-treatment data, whereas intra-session data highlighted significant differences in the secondary outcomes

  6. Phase-II Clinical Validation of a Powered Exoskeleton for the Treatment of Elbow Spasticity

    Directory of Open Access Journals (Sweden)

    Simona Crea

    2017-05-01

    Full Text Available Introduction: Spasticity is a typical motor disorder in patients affected by stroke. Typically post-stroke rehabilitation consists of repetition of mobilization exercises on impaired limbs, aimed to reduce muscle hypertonia and mitigate spastic reflexes. It is currently strongly debated if the treatment's effectiveness improves with the timeliness of its adoption; in particular, starting intensive rehabilitation as close as possible to the stroke event may counteract the growth and postpone the onset of spasticity. In this paper we present a phase-II clinical validation of a robotic exoskeleton in treating subacute post-stroke patients.Methods: Seventeen post-stroke patients participated in 10 daily rehabilitation sessions using the NEUROExos Elbow Module exoskeleton, each one lasting 45 min: the exercises consisted of isokinetic passive mobilization of the elbow, with torque threshold to detect excessive user's resistance to the movement. We investigated the safety by reporting possible adverse events, such as mechanical, electrical or software failures of the device or injuries or pain experienced by the patient. As regards the efficacy, the Modified Ashworth Scale, was identified as primary outcome measure and the NEEM metrics describing elbow joint resistance to passive extension (i.e., maximum extension torque and zero-torque angle as secondary outcomes.Results: During the entire duration of the treatments no failures or adverse events for the patients were reported. No statistically significant differences were found in the Modified Ashworth Scale scores, between pre-treatment and post-treatment and between post-treatment and follow-up sessions, indicating the absence of spasticity increase throughout (14 days and after (3–4 months follow-up the treatment. Exoskeleton metrics confirmed the absence of significant difference in between pre- and post-treatment data, whereas intra-session data highlighted significant differences in the

  7. Spatial patterns of whole brain grey and white matter injury in patients with occult spastic diplegic cerebral palsy.

    Science.gov (United States)

    Mu, Xuetao; Nie, Binbin; Wang, Hong; Duan, Shaofeng; Zhang, Zan; Dai, Guanghui; Ma, Qiaozhi; Shan, Baoci; Ma, Lin

    2014-01-01

    Spastic diplegic cerebral palsy (SDCP) is a common type of cerebral palsy (CP), which presents as a group of motor-impairment syndromes. Previous conventional MRI studies have reported abnormal structural changes in SDCP, such as periventricular leucomalacia. However, there are roughly 27.8% SDCP patients presenting normal appearance in conventional MRI, which were considered as occult SDCP. In this study, sixteen patients with occult SDCP and 16 age- and sex-matched healthy control subjects were collected and the data were acquired on a 3T MR system. We applied voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) analysis to investigate whole brain grey and white matter injury in occult SDCP. By using VBM method, the grey matter volume reduction was revealed in the bilateral basal ganglia regions, thalamus, insula, and left cerebral peduncle, whereas the white matter atrophy was found to be located in the posterior part of corpus callosum and right posterior corona radiata in the occult SDCP patients. By using TBSS, reduced fractional anisotropy (FA) values were detected in multiple white matter regions, including bilateral white matter tracts in prefrontal lobe, temporal lobe, internal and external capsule, corpus callosum, cingulum, thalamus, brainstem and cerebellum. Additionally, several regions of white matter tracts injury were found to be significantly correlated with motor dysfunction. These results collectively revealed the spatial patterns of whole brain grey and white matter injury in occult SDCP.

  8. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

    Science.gov (United States)

    Morton, D H; Bennett, M J; Seargeant, L E; Nichter, C A; Kelley, R I

    1991-10-01

    We have diagnosed type I glutaric aciduria (GA-I) in 14 children from 7 Old Order Amish families in Lancaster County, Pennsylvania. An otherwise rare disorder, GA-I appears to be a common cause of acute encephalopathy and cerebral palsy among the Amish. The natural history of the disease, which was previously unrecognized in this population, is remarkably variable and ranges from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy to normal adult. Ten patients first manifested the disease between 3 and 18 months at the time of an acute infectious illness. Four of these children died in early childhood, also during acute illnesses. However, there has been little progression of the neurological disease after age 5 years in the surviving children and intellect usually has been preserved, even in children with severe spastic paralysis. When well, patients have plasma glutaric acid concentrations ranging from 4.8 to 14.2 mumol/liter (nl 0-5.6 mumol/liter) and urinary glutaric acid concentrations from 12.5 to 196 mg/g creatinine (nl 0.5-8.4 mg/g creatinine). We have found that GA-I can be diagnosed in the Amish by measurement of urinary glutaric acid concentrations using isotope-dilution gas chromatography/mass spectrometry, whereas the diagnosis can easily be missed by routine urine organic acid gas chromatography.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Value of botulinum toxin injections preceding a comprehensive rehabilitation period for children with spastic cerebral palsy: A cost-effectiveness study.

    Science.gov (United States)

    Schasfoort, Fabienne; Dallmeijer, Annet; Pangalila, Robert; Catsman, Coriene; Stam, Henk; Becher, Jules; Steyerberg, Ewout; Polinder, Suzanne; Bussmann, Johannes

    2018-01-10

    Despite the widespread use of botulinum toxin in ambulatory children with spastic cerebral palsy, its value prior to intensive physiotherapy with adjunctive casting/orthoses remains unclear. A pragmatically designed, multi-centre trial, comparing the effectiveness of botulinum toxin + intensive physiotherapy with intensive physiotherapy alone, including economic evaluation. Children with spastic cerebral palsy, age range 4-12 years, cerebral palsy-severity Gross Motor Function Classification System levels I-III, received either botulinum toxin type A + intensive physiotherapy or intensive physiotherapy alone and, if necessary, ankle-foot orthoses and/or casting. Primary outcomes were gross motor func-tion, physical activity levels, and health-related quality-of-life, assessed at baseline, 12 (primary end-point) and 24 weeks (follow-up). Economic outcomes included healthcare and patient costs. Intention-to-treat analyses were performed with linear mixed models. There were 65 participants (37 males), with a mean age of 7.3 years (standard deviation 2.3 years), equally distributed across Gross Motor Function Classification System levels. Forty-one children received botulinum toxin type A plus intensive physio-therapy and 24 received intensive physiotherapy treatment only. At primary end-point, one statistically significant difference was found in favour of intensive physiotherapy alone: objectively measured percentage of sedentary behaviour (-3.42, 95% confidence interval 0.20-6.64, p=0.038). Treatment costs were significantly higher for botulinum toxin type A plus intensive physiotherapy (8,963 vs 6,182 euro, p=0.001). No statistically significant differences were found between groups at follow-up. The addition of botulinum toxin type A to intensive physiotherapy did not improve the effectiveness of rehabilitation for ambulatory children with spastic cerebral palsy and was also not cost-effective. Thus botulinum toxin is not recommended for use in improving gross

  10. Cautious Use of Intrathecal Baclofen in Walking Spastic Patients: Results on Long-term Follow-up.

    Science.gov (United States)

    Dones, Ivano; Nazzi, Vittoria; Tringali, Giovanni; Broggi, Giovanni

    2006-04-01

    Intrathecal baclofen is presently the most effective treatment for diffuse spasticity whatever the cause. The fact that both spasticity is always accompanied by a degree of muscle weakness and that any antispastic treatment causes a decrease in muscle strength indicate that major attention must be paid in treating spasticity in ambulant patients. Methods.  We present here a retrospective study, approved by the insitutional ethics committee, of 22 ambulant spastic patients, selected as homogeneous for disease and disease duration, who were treated with intrathecal baclofen at the Istituto Nazionale Neurologico "C.Besta" in Milan. These patients were followed-up for to 15 years of treatment and their clinical assessment was enriched by the evaluation of their functional independence measurement (FIM) before and during treatment. Results.  There was improvement in quality of life as measured by the FIM scale; however, an increase in the patient's motor performance could not be detected. Conclusion.  Although we did not show any improvement in muscle performance, intrathecal baclofen did improve daily quality of life, even in spastic patients who were able to walk.

  11. Spasticity Measurement Based on Tonic Stretch Reflex Threshold in Children with Cerebral Palsy Using the PediAnklebot

    Directory of Open Access Journals (Sweden)

    Marco Germanotta

    2017-05-01

    Full Text Available Nowadays, objective measures are becoming prominent in spasticity assessment, to overcome limitations of clinical scales. Among others, Tonic Stretch Reflex Threshold (TSRT showed promising results. Previous studies demonstrated the validity and reliability of TSRT in spasticity assessment at elbow and ankle joints in adults. Purposes of the present study were to assess: (i the feasibility of measuring TSRT to evaluate spasticity at the ankle joint in children with Cerebral Palsy (CP, and (ii the correlation between objective measures and clinical scores. A mechatronic device, the pediAnklebot, was used to impose 50 passive stretches to the ankle of 10 children with CP and 3 healthy children, to elicit muscles response at 5 different velocities. Surface electromyography, angles, and angular velocities were recorded to compute dynamic stretch reflex threshold; TSRT was computed with a linear regression through angles and angular velocities. TSRTs for the most affected side of children with CP resulted into the biomechanical range (95.7 ± 12.9° and 86.7 ± 17.4° for Medial and Lateral Gastrocnemius, and 75.9 ± 12.5° for Tibialis Anterior. In three patients, the stretch reflex was not elicited in the less affected side. TSRTs were outside the biomechanical range in healthy children. However, no correlation was found between clinical scores and TSRT values. Here, we demonstrated the capability of TSRT to discriminate between spastic and non-spastic muscles, while no significant outcomes were found for the dorsiflexor muscle.

  12. A review of the properties and limitations of the Ashworth and modified Ashworth Scales as measures of spasticity.

    Science.gov (United States)

    Pandyan, A D; Johnson, G R; Price, C I; Curless, R H; Barnes, M P; Rodgers, H

    1999-10-01

    The Ashworth Scale and the modified Ashworth Scale are the primary clinical measures of spast city. A prerequisite for using any scale is a knowledge of its characteristics and limitations, as these will play a part in analysing and interpreting the data. Despite the current emphasis on treating spasticity, clinicians rarely measure it. To determine the validity and the reliability of the Ashworth and modified Ashworth Scales. A theoretical analysis following a structured literature review (key words: Ashworth; Spasticity; Measurement) of 40 papers selected from the BIDS-EMBASE, First Search and Medline databases. The application of both scales would suggest that confusion exists on their characteristics and limitations as measures of spasticity. Resistance to passive movement is a complex measure that will be influenced by many factors, only one of which could be spasticity. The Ashworth Scale (AS) can be used as an ordinal level measure of resistance to passive movement, but not spasticity. The modified Ashworth Scale (MAS) will need to be treated as a nominal level measure of resistance to passive movement until the ambiguity between the '1' and '1+' grades is resolved. The reliability of the scales is better in the upper limb. The AS may be more reliable than the MAS. There is a need to standardize methods to apply these scales in clinical practice and research.

  13. Safety and efficacy of abobotulinumtoxinA for hemiparesis in adults with upper limb spasticity after stroke or traumatic brain injury: a double-blind randomised controlled trial.

    Science.gov (United States)

    Gracies, Jean-Michel; Brashear, Allison; Jech, Robert; McAllister, Peter; Banach, Marta; Valkovic, Peter; Walker, Heather; Marciniak, Christina; Deltombe, Thierry; Skoromets, Alexander; Khatkova, Svetlana; Edgley, Steven; Gul, Fatma; Catus, France; De Fer, Beatrice Bois; Vilain, Claire; Picaut, Philippe

    2015-10-01

    Resistance from antagonistic muscle groups might be a crucial factor reducing function in chronic hemiparesis. The resistance due to spastic co-contraction might be reduced by botulinum toxin injections. We assessed the effects of abobotulinumtoxinA injection in the upper limb muscles on muscle tone, spasticity, active movement, and function. In this randomised, placebo-controlled, double-blind study, we enrolled adults (aged 18-80 years) at least 6 months after stroke or brain trauma from 34 neurology or rehabilitation clinics in Europe and the USA. Eligible participants were randomly allocated in a 1:1:1 ratio with a computer-generated list to receive a single injection session of abobotulinumtoxinA 500 U or 1000 U or placebo into the most hypertonic muscle group among the elbow, wrist, or finger flexors (primary target muscle group [PTMG]), and into at least two additional muscle groups from the elbow, wrist, or finger flexors or shoulder extensors. Patients and investigators were masked to treatment allocation. The primary endpoint was the change in muscle tone (Modified Ashworth Scale [MAS]) in the PTMG from baseline to 4 weeks. Secondary endpoints were Physician Global Assessment (PGA) at week 4 and change from baseline to 4 weeks in the perceived function (Disability Assessment Scale [DAS]) in the principal target of treatment, selected by the patient together with physician from four functional domains (dressing, hygiene, limb position, and pain). Analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT01313299. 243 patients were randomly allocated to placebo (n=81), abobotulinumtoxinA 500 U (n=81), or abobotulinumtoxinA 1000 U (n=81). Mean change in MAS score from baseline at week 4 in the PTMG was -0·3 (SD 0·6) in the placebo group (n=79), -1·2 (1·0) in the abobotulinumtoxinA 500 U group (n=80; difference -0·9, 95% CI -1·2 to -0·6; phemiparesis. Future research into the treatment of spastic paresis with

  14. Paraplegia due to adrenomyeloneuropathy.

    Science.gov (United States)

    Lamid, S; El Ghatit, A Z

    1984-04-01

    Only nine cases of adrenomyeloneuropathy have been reported in the literature. It manifested as adrenal insufficiency, spastic paraparesis, loss of bowel, bladder and sexual functions, and peripheral neuropathy. Our paper describes a patient with the diagnosis of adrenomyeloneuropathy who was admitted to our hospital for rehabilitation. Family and neurological history, physical examination and special laboratory studies such as ACTH stimulation test, electrodiagnostic findings, cystometrogram and sexual function evaluation were essential to establish the diagnosis of this disease. His rehabilitation consisted of bowel and bladder training, ambulation with long-leg braces and crutches, wheelchair mobilization and transfers, and independence of all activities of daily living.

  15. Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Steenhof, Maria; Kibæk, Maria; Larsen, Martin J.

    2018-01-01

    with mutations affecting the GR5P domain. We present a 19-year old male patient with autosomal recessive spastic paraplegia and compound heterozygosity for two ALDH18A1 mutations, one in each of the P5CS domains. This young man has spastic paraplegia with onset in childhood and temporal lobe epilepsy, but normal...

  16. Short- and long-term effects of selective dorsal rhizotomy on gross motor function in ambulatory children with spastic diplegia Clinical article

    NARCIS (Netherlands)

    van Schie, P.E.M.; Schothorst, M.; Dallmeijer, A.J.; Vermeulen, R.J.; van Ouwerkerk, W.J.R.; Strijers, R.L.M.; Becher, J.G.

    2011-01-01

    Object. The primary aim of this prospective cohort study was to evaluate the short-term (1 year) and long-term (mean 6 years) effects of selective dorsal rhizotomy (SDR) on gross motor function and spasticity in ambulatory children with spastic diplegia. Secondary aims were to investigate side

  17. Experience with Relatox® in the combination therapy of arm and hand spasticity after stroke

    Directory of Open Access Journals (Sweden)

    V. V. Gusev

    2017-01-01

    Full Text Available Objective: to evaluate the safety, efficacy, and tolerability of the botulinum toxin A Relatox® in arm and hand spasticity after ischemic stroke in routine clinical practice.Patients and methods. The instigation enrolled 7 patients after ischemic stroke (7 years ago with the signs of upper limb spasticity. All the patients received combination treatment that involved daily kinesiotherapy sessions and electrical stimulation of the paralyzed limbs. Relatox® was once injected into the forearm muscles of the paralyzed arm 6 months or later after stroke. Muscles were chosen according to clinical and electromyographic findings. The patients' status was assessed before, 2 weeks and 3 months after injection.There were changes in muscle tone, motor abilities of the hand, in the degree of self-service, the presence of subjective sensations, and the degree of local and systemic reactions. The efficiency of therapy was evaluated clinically (Ashworth scale, Frenchay test, Barthel index and on the basis of an analysis of video monitoring a patient's status and of the consideration of care-givers' views.Before included in the study, all the patients were treated with different types of botulinum neurotoxin type A made by other manufacturers.Results. The clinical efficiency of local intramuscular injection of the botulinum toxin type Relatox® in combination with kinesiotherapy and electrical stimulation after 14 days and 3 months after injection was noted in all cases.The good tolerability, efficacy, and long-term of action of relatox, which were comparable to those of other botulinum neurotoxin type A products, were noted during a 3-month follow-up. Neither side effects no adverse events were identified.Conclusion. Accumulation of data on the doses and effects of drugs for the local therapy of post-stroke spasticity, which have been obtained by different clinical centers, and the possibility of choosing a medication will be able to improve treatment in such

  18. The ankle-foot orthosis improves balance and reduces fall risk of chronic spastic hemiparetic patients.

    Science.gov (United States)

    Cakar, E; Durmus, O; Tekin, L; Dincer, U; Kiralp, M Z

    2010-09-01

    Ankle foot orthoses (AFO) are commonly used orthotic device in order to restore the ankle foot function and to improve the balance and gait in post-stroke hemiparetic patients. However, there remain some discussions about their effectiveness on long term hemiparetic patients who had mild to moderate spasticity. To investigate the relative effect of prefabricated thermoplastic posterior leaf spring AFO (PLS-AFO) on balance and fall risk. A cross-over interventional study The Department of PMR of a tertiary hospital. Twenty-five chronic post-stroke long duration hemiparetic patients who had Ashworth grade 1-2 spasticity at affected calf muscles and lower limb Brunnstrom stage 2-3 and also able to walk independently without an assistive device. Berg Balance Scale (BERG), and the postural stability test (PST) and the fall risk test (FRT) of Biodex balance systems were used for the assessments. All of the patients were assessed with AFO and without AFO. All assessments were made with footwear. The mean post-stroke duration was 20,32±7,46 months. The BERG scores were 42,12±9,05 without AFO and 47,52±7,77 with AFO; the overall stability scores of FRT were 3,35±1,97 without AFO and 2,69±1,65 with AFO (Pbalance and provide fall risk reduction in chronic post-stroke ambulatory hemiparetic patients who had mild to moderate spasticity on their affected lower limb. These results encourage the usage of AFO on long duration hemiparetic patients in order to provide better balance and lesser fall risk.

  19. Does electrical stimulation reduce spasticity after stroke? A randomized controlled study.

    Science.gov (United States)

    Bakhtiary, Amir H; Fatemy, Elham

    2008-05-01

    To investigate the therapeutic effect of electrical stimulation on plantarflexor spasticity in stroke patients. A randomized controlled clinical trial study. Rehabilitation clinic of Semnan University of Medical Sciences. Forty stroke patients (aged from 42 to 65 years) with ankle plantarflexor spasticity. Fifteen minutes of inhibitory Bobath techniques were applied to one experimental group and a combination of 9 minutes of electrical stimulation on the dorsiflexor muscles and inhibitory Bobath techniques was applied to another group for 20 sessions daily. Passive ankle joint dorsiflexion range of motion, dorsiflexion strength test, plantarflexor muscle tone by Modified Ashworth Scale and soleus muscle H-reflex. The mean change of passive ankle joint dorsiflexion in the combination therapy group was 11.4 (SD 4.79) degrees versus 6.1 (SD 3.09) degrees, which was significantly higher (P = 0.001). The mean change of plantarflexor muscle tonicity measured by the Modified Ashworth Scale in the combination therapy group was -1.6 (SD 0.5) versus -1.1 (SD 0.31) in the Bobath group (P = 0.001). Dorsiflexor muscle strength was also increased significantly (P = 0.04) in the combination therapy group (0.7 +/- 0.37) compared with the Bobath group (0.4 +/- 0.23). However, no significant change in the amplitude of H-reflex was found between combination therapy (-0.41 +/- 0.29) and Bobath (-0.3 +/- 0.28) groups. Therapy combining Bobath inhibitory technique and electrical stimulation may help to reduce spasticity effectively in stroke patients.

  20. Modification of spasticity by transcutaneous spinal cord stimulation in individuals with incomplete spinal cord injury

    Science.gov (United States)

    Hofstoetter, Ursula S.; McKay, William B.; Tansey, Keith E.; Mayr, Winfried; Kern, Helmut; Minassian, Karen

    2014-01-01

    Context/objective To examine the effects of transcutaneous spinal cord stimulation (tSCS) on lower-limb spasticity. Design Interventional pilot study to produce preliminary data. Setting Department of Physical Medicine and Rehabilitation, Wilhelminenspital, Vienna, Austria. Participants Three subjects with chronic motor-incomplete spinal cord injury (SCI) who could walk ≥10 m. Interventions Two interconnected stimulating skin electrodes (Ø 5 cm) were placed paraspinally at the T11/T12 vertebral levels, and two rectangular electrodes (8 × 13 cm) on the abdomen for the reference. Biphasic 2 ms-width pulses were delivered at 50 Hz for 30 minutes at intensities producing paraesthesias but no motor responses in the lower limbs. Outcome measures The Wartenberg pendulum test and neurological recordings of surface-electromyography (EMG) were used to assess effects on exaggerated reflex excitability. Non-functional co-activation during volitional movement was evaluated. The timed 10-m walk test provided measures of clinical function. Results The index of spasticity derived from the pendulum test changed from 0.8 ± 0.4 pre- to 0.9 ± 0.3 post-stimulation, with an improvement in the subject with the lowest pre-stimulation index. Exaggerated reflex responsiveness was decreased after tSCS across all subjects, with the most profound effect on passive lower-limb movement (pre- to post-tSCS EMG ratio: 0.2 ± 0.1), as was non-functional co-activation during voluntary movement. Gait speed values increased in two subjects by 39%. Conclusion These preliminary results suggest that tSCS, similar to epidurally delivered stimulation, may be used for spasticity control, without negatively impacting residual motor control in incomplete SCI. Further study in a larger population is warranted. PMID:24090290

  1. A Descriptive Study of Lower Limb Torsional Kinematic Profiles in Children With Spastic Diplegia.

    Science.gov (United States)

    Simon, Anne-Laure; Ilharreborde, Brice; Megrot, Fabrice; Mallet, Cindy; Azarpira, Reza; Mazda, Keyvan; Presedo, Ana; Penneçot, Georges F

    2015-09-01

    Lower limb rotational anomalies in spastic diplegic children with cerebral palsy (CP) are common and difficult to identify through physical examination alone. The identification and treatment of the overall rotational disorders must be considered to restore physiological lever-arms lengths and lever-arms orientation.The aims of the study were to assess the prevalence of lower limb rotational malalignment and to describe the distribution of the different kinematic torsional profiles in children with spastic diplegia. Instrumented gait analysis data from 188 children with spastic diplegia were retrospectively reviewed. None of the patients had undergone surgery previously or received botulinum toxin treatment within 6 months before the review. Kinematic data, collected at the midstance phase, included: pelvic, hip, and ankle rotation and foot progression angle. The prevalence of kinematic rotational deviations was 98.4%. Sixty-one percent of the children walked with an internal foot progression angle and 21% exhibited external alignment. The pelvis was internally rotated in 41% of the cases and externally in another 27%. Hip rotation was internal in 29% and external in 27% of the cases. Ankle rotation was internal in 55% and external in 16% of the cases. Lower limb rotational anomalies involved more than one level in 77% of the limbs. A kinematic compensatory deviation was identified in at least one level in 48% of the limbs. Kinematic rotational anomalies were identified in nearly all the 188 children in the study. The multilevel involvement of lower limb malalignment was not systematically associated with compensatory mechanisms between the levels. Ankle rotational anomalies were the most frequent cause of lower limb torsional deviations followed by pelvic malalignment. Level IV.

  2. Can turned inward patella predict an excess of femoral anteversion during gait in spastic diplegic children?

    Science.gov (United States)

    Simon, Anne-Laure; Presedo, Ana; Ilharreborde, Brice; Mallet, Cindy; Mazda, Keyvan; Penneçot, Georges-François

    2014-06-01

    Determining patellar orientation in the transverse plane during observational gait analysis is a fundamental aspect of physical examinations. Many physicians consider that an abnormal position of the patella in the transverse planes is only explained by a rotational abnormality of the proximal femur. A total of 188 spastic diplegic children with cerebral palsy were reviewed (376 lower limbs). The physical examination included observation of patellar orientation at midstride and measuring femoral anteversion (FA). All patients also underwent 3-dimensional (3D) computerized gait analysis of pelvic and hip rotation kinematics. Observational gait analysis and videotapes found 103 children (206 lower limbs) with inturned patella at midstance. Kinematic data from 3D gait analysis showed that the visual impression of turned inward patella was erroneous in 48 limbs. Of the remaining 158 lower limbs, 117 (74%) exhibited excessive FA and 41 (26%) did not. Of the 117 with excessive FA, kinematics showed only 66 (56%) with excessive internal hip rotation (with or without excessive internal pelvic rotation). Of the 41 lower limbs without excessive FA, 25 were explained by excessive internal pelvic rotation and 16 were explained by excessive internal hip rotation (isolated spasticity and/or contracture of internal rotator muscles). Turned inward patella was caused by isolated excessive internal pelvic rotation in 48%, excessive internal hip rotation in 35% (including 44 cases with excessive FA and 12 cases with isolated spasticity and/or contracture of internal hip rotators), and excessive internal hip rotation combined with excessive internal pelvic rotation in 17%. Excessive FA was not the only cause of turned inward patella gait and could not explain this gait anomaly by itself. Excessive internal pelvic rotation was the most frequent cause of turned inward patella gait. Level IV.

  3. Research on the performance of the spastic calf muscle of young adults with cerebral palsy.

    Science.gov (United States)

    Lampe, Renee; Mitternacht, Jurgen

    2011-02-12

    The aim of this study was to find an objective graduation of pes equinus in infantile cerebral palsy, especially with regard to functional aspects, to allow a differentiated choice of the therapeutic options. Very often raises the question of whether a surgical lengthening of the Achilles tendon may let expect a functional improvement. For this documentation 17 patients with pes equinus and a diagnosis of spastic cerebral palsy, primarily of the lower limbs, and hemiplegia were examined first clinically and then by a procedure for calculating the functional kinetic parameters from an in-shoe plantar pressure distribution measurement (novel pedar-X system), which is used in many orthopedic practices and clinics as a standard measuring device. Using additional video motion analysis, the flexion in the ankle joint and the ankle joint torque were determined. From this the physical performance of the spastically shortened calf muscle was calculated. The course of the curves of torque and joint performance allows a functional classification of the pes equinus. Approximately three quarters of all pes equinus demonstrated functional activity of the most part of the normal push-off propulsion power. Even the rigid pes equinus was capable of performing push-off propulsion work, provided it converted energy that was absorbed during the heel-strike phase and released it again during the push-off phase. This suggests that the function of paretic ankle joint is better than its kinematics of motion. A heel strike with a pes equinus triggers via stretching stimuli in the muscle-ligament structure reflex motor functions, thereby causing the typical spastic gait pattern. This remarkable gait pattern is often evaluated as dysfunctional and as absolutely requiring correction. However, an aspect possibly neglected in this instance is the fact that this gait pattern may be efficient for the patient and may in fact be a suitable means allowing for economic locomotion despite the cerebral

  4. Phonologically based assessment and intervention in Spastic Cerebral Palsy: A case analysis

    Directory of Open Access Journals (Sweden)

    Michael A. Crary

    1981-11-01

    Full Text Available The articulation errors of one adult subject demonstrating a spastic variety of congenital cerebral palsy were evaluated via a phonological process analysis. This analysis indicated that a stopping process (replacement of fricatives with homorganic stops was the most detrimental to the subject's, intelligibility. Subsequent to this analysis a phonemic contrasting programme was initiated toward the goal of minimizing the influence of the stopping process. Results of  spontaneous speech sample analyses indicated that this approach was successful in increasing the percentage of correctly produced fricative patterns. Success in this case suggests the applicability of  a linguistically based intervention approach in structural/functional disturbances of speech articulation.

  5. Brain State Before Error Making in Young Patients With Mild Spastic Cerebral Palsy.

    Science.gov (United States)

    Hakkarainen, Elina; Pirilä, Silja; Kaartinen, Jukka; van der Meere, Jaap J

    2015-10-01

    In the present experiment, children with mild spastic cerebral palsy and a control group carried out a memory recognition task. The key question was if errors of the patient group are foreshadowed by attention lapses, by weak motor preparation, or by both. Reaction times together with event-related potentials associated with motor preparation (frontal late contingent negative variation), attention (parietal P300), and response evaluation (parietal error-preceding positivity) were investigated in instances where 3 subsequent correct trials preceded an error. The findings indicated that error responses of the patient group are foreshadowed by weak motor preparation in correct trials directly preceding an error. © The Author(s) 2015.

  6. Warm-needle moxibustion for spasticity after stroke: A systematic review of randomized controlled trials.

    Science.gov (United States)

    Yang, Liu; Tan, Jing-Yu; Ma, Haili; Zhao, Hongjia; Lai, Jinghui; Chen, Jin-Xiu; Suen, Lorna K P

    2018-03-22

    Spasticity is a common post-stroke complication, and it results in substantial deterioration in the quality of life of patients. Although potential positive effects of warm-needle moxibustion on spasticity after stroke have been observed, evidence on its definitive effect remains uncertain. This study aimed to summarize clinical evidence pertaining to therapeutic effects and safety of warm-needle moxibustion for treating spasticity after stroke. Randomized controlled trials were reviewed systematically on the basis of the Cochrane Handbook for Systematic Reviews of Interventions. The report follows the PRISMA statement. Ten electronic databases (PubMed, CENTRAL, EMBASE, AMED, CINAHL, Web of Science, CBM, CNKI, WanFang, and VIP) were explored, and articles were retrieved manually from two Chinese journals (The Journal of Traditional Chinese Medicine and Zhong Guo Zhen Jiu) through retrospective search. Randomized controlled trials with warm-needle moxibustion as treatment intervention for patients with limb spasm after stroke were included in this review. The risk of bias assessment tool was utilized in accordance with Cochrane Handbook 5.1.0. All included studies reported spasm effect as primary outcome. Effect size was estimated using relative risk, standardized mean difference, or mean difference with a corresponding 95% confidence interval. Review Manager 5.3 was utilized for meta-analysis. Twelve randomized controlled trials with certain methodological flaws and risk of bias were included, and they involved a total of 878 participants. Warm-needle moxibustion was found to be superior to electroacupuncture or acupuncture in reducing spasm and in promoting motor function and daily living activities. Pooled results for spasm effect and motor function were significant when warm-needle moxibustion was compared with electroacupuncture or acupuncture. A comparison of daily living activities indicated significant differences between warm-needle moxibustion and

  7. Normative NeuroFlexor data for detection of spasticity after stroke: a cross-sectional study

    OpenAIRE

    Pennati, Gaia Valentina; Plantin, Jeanette; Borg, J?rgen; Lindberg, P?vel G

    2016-01-01

    Background and Objective The NeuroFlexor is a novel instrument for quantification of neural, viscous and elastic components of passive movement resistance. The aim of this study was to provide normative data and cut-off values from healthy subjects and to use these to explore signs of spasticity at the wrist and fingers in patients recovering from stroke. Methods 107 healthy subjects (age range 28?68 years; 51?% females) and 39 stroke patients (age range 33?69 years; 33?% females), 2?4 weeks ...

  8. Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.

    Science.gov (United States)

    Koutsis, Georgios; Breza, Marianthi; Evangelopoulos, Maria-Eleftheria; Anagnostouli, Maria; Andreadou, Elisavet; Karagiorgis, Georgios; Kokotis, Panagiotis; Kilidireas, Costas; Karandreas, Nikolaos

    2017-04-01

    Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction. SPHC remitted fully in both patients. SPHC, a rare but distinct clinical and EMG entity, can occasionally be the presenting feature of MS. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Somatosensory inputs by application of KinesioTaping: effects on spasticity, balance, and gait in chronic spinal cord injury.

    Science.gov (United States)

    Tamburella, Federica; Scivoletto, Giorgio; Molinari, Marco

    2014-01-01

    Leg paralysis, spasticity, reduced interlimb coordination, and impaired balance are the chief limitations to overground ambulation in subjects with incomplete spinal cord injury (SCI). In recent years, the application of KinesioTaping (KT) has been proposed to enhance sensory inputs, decreasing spasticity by proprioception feedback and relieving abnormal muscle tension. Because no studies have examined KT-based techniques in SCI subjects, our goal was to analyze the effects of ankle joint KT on spasticity, balance, and gait. A randomized crossover case control design was used to compare the effects of KT and conventional nonelastic silk tape (ST) in 11 chronic SCI subjects, AIS level D, with soleus/gastrocnemius (S/G) muscle spasticity and balance and gait impairments. 48 h of treatment with KT or ST was followed by 48 h with the other technique after 1 week. A single Y-strip of Cure(©) tape (KT) and ST was to the S and G muscles with 0% stretch. Before and 48 h after of application of KT and ST, clinical data on the range of motion (ROM), spasticity, clonus, pain, balance, and gait were collected. Stabilometric platform assessment of center of pressure (COP) movements; bidimensional gait analysis; and recording of electromyographic (EMG) activity of the S, G, and tibialis anterior and extensor hallucis lungus muscles were also performed. Only KT had significant effects on spasticity (p < 0.05), clonus (p < 0.001) and COP movements (p < 0.05), kinematic gait parameters (p < 0.001), and EMG activity (p < 0.001). Comparison between ST and KT improvements pointed out significant differences as concerns ROM (p < 0.001), spasticity (p < 0.001), clonus (p < 0.001), pain (p < 0.001), COP parameters (p < 0.05), and most kinematic gait data (p < 0.05). Short-term application of KT reduces spasticity and pain and improves balance and gait in chronic SCI subjects. Although these data are promising, they require confirmation in a larger cohort of patients.

  10. Incidence estimate and guideline-oriented treatment for post-stroke spasticity: an analysis based on German statutory health insurance data

    Directory of Open Access Journals (Sweden)

    Egen-Lappe V

    2013-03-01

    Full Text Available Veronika Egen-Lappe, Ingrid Köster, Ingrid SchubertPMV Research Group, Department of Child and Adolescence Psychiatry and Psychotherapy, University of Cologne, Cologne, GermanyBackground: Spasticity after stroke has been internationally recognized as an important health problem causing impairment of mobility, deformity, and pain. The aim of this study was to assess the frequency of first-ever and recurrent stroke and of subsequent spastic and flaccid paresis. Factors influencing the development of spasticity were analyzed. A further major aim was to provide a "real-life" assessment of the treatment of spasticity in Germany and to discuss this in view of the treatment recommended by German and international clinical guidelines.Methods: The database used in this study comprised a cohort of 242,090 insurants from a large statutory health insurance fund in the federal state of Hesse, Germany. A first hospital discharge diagnosis in 2009 with any of the International Classification of Diseases, Tenth Revision (ICD-10 codes I60–I64 was used to identify patients with acute stroke (hemorrhage and ischemic. These patients were followed up six months after stroke to monitor whether they developed spastic or flaccid paresis (hospital or ambulatory care diagnoses ICD-10 code G81–G83 [excluding G82.6/G83.4/G83.8]. For patients with spastic paresis after stroke the spasticity treatment was analyzed for a six-month period (physiotherapy, oral muscle relaxants, intrathecal baclofen, and botulinum toxin.Results: Standardized to the population of Germany, 3.7 per 1000 persons suffered a stroke in 2009 (raw 5.2/1000. Of all surviving patients, 10.2% developed spasticity within 6 months. Cox regression revealed no significant influence of patient age, gender, morbidity (diabetes, hypertensive diseases, ischemic heart diseases or type of stroke on development of spasticity. 97% of surviving patients with spasticity received physiotherapy (inpatient care 89

  11. THE INFLUENCE OF COMBINATION NON-MEDICAL TREATMENT INCLUDING FUNCTIONAL PROGRAMMED ELECTRICAL STIMULATION ON THE CLINICAL AND INSTRUMENTAL PARAMETERS IN PATIENTS WITH CEREBRAL PALSY WITH SPASTIC DIPLEGIA

    Directory of Open Access Journals (Sweden)

    V. V. Eliseev

    2015-01-01

    Full Text Available Background: Cerebral palsy is the leading cause of physical disability in pediatric  age. The search for new methods and improvement of old rehabil- itation techniques is ongoing, due to low efficacy of the latter. Aim: To assess the efficacy of a func- tional programmed electrical muscle stimulation as a part  of combination treatment of patients with cerebral palsy in the form of spastic diplegia. Materials and methods: We analyzed the results of treatment of 71 children with cerebral palsy and spastic diplegia, who had  been  randomized  into two groups  depending on the type of treatment. In  the  first group,  the  patients  (n = 38 received a course of functional programmed electric stim- ulation  in combination with  other  non-medical treatment  methods.  The  second   group   (n = 33 underwent a usual  course  of electrical  stimula- tion in combination with non-medical  treatment, similar to that  in the first group. The third group (control   included   41   children   without    cere- bral palsy. Clinical and  instrumental parameters were  assessed  in all study  participants. Results: After the course of combination treatment in the group  1, the  tonus  of m. gastrocnemius was de- creased significantly by 41%, that of the posterior group  of femur muscles by 43%, adductor group of femur muscles by 36%. In the group  2, the re- spective parameters decreased by 24, 21 and 21%. Muscle power  endurance was  increased  signifi- cantly in patients of both groups: that of long back extensors by 12.5 and 6.2 sec, of m. rectus abdomi- nis by 10.6 sec and 5.2 sec, of gluteal muscles by 9.3 and 4.6 sec, of m. quadriceps  by 19.8 and 7.2 sec, of m. anterior  tibialis by 12.1 and 4.6 sec, respec- tively. After the  treatment, the  active movement volume in the large joints of lower extremities  in the group 1 patients  improved as follows: by 15.6° in hip joints, by 11.1° in knee joints and by

  12. Effects of intensive physical therapy on the motor function of a child with spastic hemiparesis

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    María Eugenia Serrano-Gómez

    2016-09-01

    Full Text Available Introduction: Physical therapy is a health profession whose object of study is the movement of the human body, therefore, it is responsible for cases involving motor development problems, as in the case presented here. Objective: To describe the short-term effect caused by intensive physical therapy treatment, performed with Therasuit, on motor function of a child with spastic right hemiparesis. Materials and methods: Descriptive qualitative research conducted based on the case study methodology with an observation period of two years. Results: The results include, besides the detection and diagnosis of the case, the analysis of information based on the application of the methodology and the observation of results in clinical trials to assess movement, design and implementation of a treatment plan using the Therasuit method. Conclusions: This case study makes possible to observe how the presence of a physical therapy program at a clinical practice institution allowed Therasuit method treatment to a four-year-old child diagnosed with right spastic hemiparesis sequelae, which improved gait and motor function.

  13. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

    Science.gov (United States)

    Schüle, R; Bonin, M; Dürr, A; Forlani, S; Sperfeld, A D; Klimpe, S; Mueller, J C; Seibel, A; van de Warrenburg, B P; Bauer, P; Schöls, L

    2009-06-02

    Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP families do not link to any of the known HSP loci. In this study, we aimed to map the disease locus in a German family segregating autosomal dominant complicated HSP. A genome-wide linkage analysis was performed using the GeneChip Mapping 10Kv2.0 Xba Array containing 10,204 SNP markers. Suggestive loci were further analyzed by mapping of microsatellite markers. One locus on chromosome 12q23-24, termed SPG36, was confirmed by high density microsatellite fine mapping with a significant LOD score of 3.2. SPG36 is flanked by markers D12S318 and D12S79. Linkage to SPG36 was excluded in >20 additional autosomal dominant HSP families. Candidate genes were selected and sequenced. No disease-causing mutations were identified in the coding regions of ATXN2, HSPB8, IFT81, Myo1H, UBE3B, and VPS29. SPG36 is complicated by a sensory and motor neuropathy; it is therefore the eighth autosomal dominant subtype of complicated HSP. We report mapping of a new locus for autosomal dominant hereditary spastic paraplegia (HSP) (SPG36) on chromosome 12q23-24 in a German family with autosomal dominant HSP complicated by peripheral neuropathy.

  14. Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study

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    Marise Bueno Zonta

    2013-07-01

    Full Text Available Objective To compare motor and functional performance of two groups of children with hemiplegic cerebral palsy (HCP. Only the study group (SG received early treatment of spasticity with botulinum neurotoxin type A (BXT-A. Methods Gross Motor Function Measure (GMFM, functional performance (Pediatric Evaluation of Disability Inventory - PEDI, range of movement, gait pattern (Physician Rating Scale - PRS and the speed of hand movements were considered. Results The SG, composed of 11 HCP (45.64±6.3 months, was assessed in relation to the comparison group, composed of 13 HCP (45.92±6.4 months. SG showed higher scores in four of the five GMFM dimensions, which included scores that were statistically significant for dimension B, and higher scores in five of the six areas evaluated in the PEDI. Active wrist extension, the speed of hand movements and PRS score were higher in the SG. Conclusion Children who received early BXT-A treatment for spasticity showed higher scores in motor and functional performance.

  15. SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

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    Terada, Tatsuhiro; Kono, Satoshi; Ouchi, Yasuomi; Yoshida, Kenichi; Hamaya, Yasushi; Kanaoka, Shigeru; Miyajima, Hiroaki

    2013-04-01

    SPG3A-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other neurological abnormalities. SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract. However, there is still a debate about the etiology of this motor deficit with regard to whether it is peripheral or central. We herein report two patients who were heterozygous for a R239C mutation in the SPG3A gene. Two middle-aged Japanese sisters had been suffering from a pure phenotype of HSP since their childhood. Both patients had a significant decrease in glucose metabolism in the frontal cortex medially and dorsolaterally in a [(18)F]-fluorodeoxyglucose (FDG) positron emission photography (PET) study and low scores on the Frontal Assessment Battery. A real-time PCR analysis in normal subjects showed the frontal cortex to be the major location where SPG3A mRNA is expressed. The present finding that the frontal glucose hypometabolism was associated with frontal cognitive impairment indicates that widespread neuropathology associated with mutations in the SPG3A gene may be present more centrally than previously assumed.

  16. EFFECTIVENESS OF FLOOR EXERCISES VERSES BALL EXERCISES ON SPINAL MOBILITY IN SPASTIC DIPLEGIC

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    Sumitra Sakhawalkar

    2017-04-01

    Full Text Available Background: The objective of this present study was to determine the Effectiveness of Floor Exercises versus Ball Exercises on spinal mobility in Spastic Diplegic. Methods: Institutional ethical committee permission was taken before starting the study. A sample of 70 Diplegic CP children was screened, and 40 meeting the inclusion criteria were selected for study were then randomly divided into two groups one control other experimental i.e. 20 in each group by chit method. Both the groups were assessed with spinal goniometry using Tape measurements for Thoracolumbar spine and Modified Schober's Test (MMSTbefore and after the treatment. Control group were given Floor exercise on a mat, and Swiss ball was giving experimental group Ball exercises for ten repetitions with 10-second hold, treatment time was 40 min per session for 3days per week for six weeks. Same sustained stretching technique for both groups in bilateral lower extremities for ten repetitions with 30 sec hold was given for, TA, Iliopsoas, Hamstrings, Hip Adductor, Rectus femoris. Result: Significant improvement was noted in the Intra-group comparison of both the groups from baseline to post six weeks of intervention p-value 0.001*** in both groups, and the Intergroup analysis using with tape measurements for Thoracolumbar spine (p-value and MMST (p-value 0.133NS. Conclusion: The present study concludes that there is a similar effect of both Floor Exercises versus Ball Exercises on spinal mobility in Spastic Diplegic.

  17. HTLV-1 antibodies in serum and cerebrospinal fluid in tropical spastic paraparesis in Brazil

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    A. Spina-França

    1990-12-01

    Full Text Available HTLV-l antibodies were investigated in serum and in CSF of 150 patients with neurologic disorders mainly myelopathies. The patients were considered into three groups according to the possible relationship of their disease to the presence of HTLV-l antibodies: no relationship risk (control group, occasional risk group, and possible risk group. In this latter are 56 patients with crural spastic paraparesis or paraplegia of unknown etiology (SP. HTLV-l antibodies were tested by the passive particle-agglutination method for anti-ATLA antibody detection. The search was negative in all patients of the control group, and positive (serum and/or CSF in 16.5% of the patients from the second group and in 55.4% of the SP patients group. Clinical patterns in SP cases with HTLV-l antibodies were those of tropical spastic paraparesis (TSP. CSF patterns considered (cytology, protein content and gamma-globulins rate were different between TSP group with HTLV-l antibodies in CSF and SP group with no HTLV-l antibodies detection either in serum or in CSF. The difference was significant. Results of this investigation confirm the high incidence of TSP in Brazil, and bring additional indication for searching HTLV-l antibodies in the CSF.

  18. NEUROORTHOPEDICAL APPROACH TO THE CORRECTION OF EQUINES CONTRACTURE IN PATIENTS WITH SPASTIC PARALYSIS

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    Valery Vladimirovich Umnov

    2014-03-01

    Full Text Available The frequency of recurrent contractures of the joints of the lower limb after their correction by means of tendon-muscle plasty remains significant. Therefore, the search for effective ways to correct contractures with the most resistant long-term result is relevant. The objective of the study is to improve treatment outcomes of equinus contracture in children with spastic paralysis. Materials and methods. We analyzed the results of correction of contractures in joints of lower limbs in 40 patients with cerebral palsy and the influence of spasticity of patognomonic muscles on them. The mean age was 6 years 7 months. In addition, for the correction of hypertonus of triceps muscle of tibia, the 330 lower limb segments were performed selective neurotomy of appropriate motor branches of the general tibial nerve. This operation in 304 cases was combined with achilloplastics or Strayer operation. Results. A mean degree of correlation between the degree of contracture in the ankle and increased tone of triceps tibia was determined (r value ranged from 0.451 to 0.487. Short-term results of the combined neuroorthopedic method for correction of contractures were good in estimating within 1 year post surgery, but a study of its short-run effect requires long-term follow-up.

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

    Science.gov (United States)

    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

  20. Effect of rhythmic auditory stimulation on gait performance in children with spastic cerebral palsy.

    Science.gov (United States)

    Kwak, Eunmi Emily

    2007-01-01

    The purpose of this study was to use Rhythmic Auditory Stimulation (RAS) for children with spastic cerebral palsy (CP) in a clinical setting in order to determine its effectiveness in gait training for ambulation. RAS has been shown to improve gait performance in patients with significant gait deficits. All 25 participants (6 to 20 years old) had spastic CP and were ambulatory, but needed to stabilize and gain more coordinated movement. Participants were placed in three groups: the control group, the therapist-guided training (TGT) group, and the self-guided training (SGT) group. The TGT group showed a statistically significant difference in stride length, velocity, and symmetry. The analysis of the results in SGT group suggests that the self-guided training might not be as effective as therapist-guided depending on motivation level. The results of this study support three conclusions: (a) RAS does influence gait performance of people with CP; (b) individual characteristics, such as cognitive functioning, support of parents, and physical ability play an important role in designing a training application, the effectiveness of RAS, and expected benefits from the training; and (c) velocity and stride length can be improved by enhancing balance, trajectory, and kinematic stability without increasing cadence.

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

    Science.gov (United States)

    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.

  2. Recovery of neuronal and network excitability after spinal cord injury and implications for spasticity

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    Jessica Maria D'Amico

    2014-05-01

    Full Text Available The state of areflexia and muscle weakness that immediately follows a spinal cord injury is gradually replaced by the recovery of neuronal and network excitability, leading to both improvements in residual motor function and the development of spasticity. In this review we summarize recent animal and human studies that describe how motoneurons and their activation by sensory pathways become hyperexcitable to compensate for the reduction of descending and movement-induced sensory inputs and the eventual impact on the muscle. We discuss how replacing lost patterned activation of the spinal cord by activating synaptic inputs via assisted movements, pharmacology or electrical stimulation may help to recover lost spinal inhibition. This may lead to a reduction of uncontrolled activation of the spinal cord and thus, improve its controlled activation by synaptic inputs to ultimately normalize circuit function. Increasing the excitation of the spinal cord below an injury with spared descending and/or peripheral functional synaptic activation, instead of suppressing it pharmacologically, may provide the best avenue to improve residual motor function and manage spasticity after spinal cord injury.

  3. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

    Science.gov (United States)

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

    2016-06-01

    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 >50% of cases and identified 11 novel variants. Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas 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.

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

    Science.gov (United States)

    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

  5. [Autoimmune syndrome in the tropical spastic paraparesis/myelopathy associated with human T-lymphotropic virus infections].

    Science.gov (United States)

    Domínguez, Martha C; Torres, Miyerlandi; Tamayo, Oscar; Criollo, William; Quintana, Milton; Sánchez, Adalberto; García, Felipe

    2008-12-01

    Previous reports have given evidence that in tropical spastic paraparesis (TSP)/human T-lymphotrophic virus (HTLV-I)-associated myelopathy (HAM), an autoimmune process occurs as part of its pathogenesis. The roles of autoimmunity and the molecular mimicry was evaluated in TSP/HAM patients. Plasma samples were characterized from patients in the Pacific coastal region of Colombia. Thirty-seven were identified as TSP/HAM, 10 were diagnosed with adult T-cell leukemia virus, 22 were asymptomatic carriers but seropositive for HTLV-I and 20 were seronegative and served as negative controls. Plasmatic levels of the following were determined: antinuclear antibody (ANA) levels, anticardiolipine-2 (ACL-2), interferon- (IFN-gamma) and interleukin-4 (IL-4). Using Western blot, the crossreactivity of the seropositive and seronegative samples was evaluated against proteins extracted from several central nervous system components of non infected Wistar rats. The HTLV-I seropositive plasmas were crossreacted with a monoclonal tax (LT4 anti-taxp40) from spinal cord neurons of non infected Wistar rats. Of the TSP/HAM patients, 70.2% were reactive against ANA and 83.8% against ACL-2, in contrast with those ATL and asymptomatic seropositives subjects that were not reactive (P<0.001). Moreover, 70.3% had detectable levels of IFN and 43.2% had detectable IL-4. LT4 anti-taxp40 and plasma of TSP/HAM exhibited cross reactivity with a MW 33-35 kDa protein from the rat spinal cord nuclei. Support was provided for the existence of an autoimmune syndrome mediated by molecular mimicry; the syndrome was responsible for some of the axonal degeneration observed in TSP/HAM patients.

  6. Signs of long-term adaptation to permanent brain damage as revealed by prehension studies of children with spastic hemiparesis

    NARCIS (Netherlands)

    Steenbergen, B.; Meulenbroek, R.G.J.; Latash, M.L.; Levin, M.

    2003-01-01

    This chapter focusses on signs of long-term adaptation to permanent brain damage in children with spastic hemiparesis. First, we recognize that adaptation processes may occur at various time scales. Then, we formulate a tentative strategy to infer signs of adaptation from behavioral data.

  7. The effect of walking speed on hamstrings length and lengthening velocity in children with spastic cerebral palsy

    NARCIS (Netherlands)

    Krogt, van der M.M.; Doorenbosch, C.A.M.; Harlaar, J.

    2009-01-01

    0.001). These data are important as a reference for valid interpretation of hamstrings length and velocity data in gait analyses at different walking speeds. The results indicate that the presence of spasticity is associated with reduced hamstrings length and lengthening velocity during gait, even

  8. High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, M.; Hara, A.; Murakami, T.; Ando, Y.; Uyama, E.; Mita, S.; Uchino, M. [Kumamoto Univ. (Japan). School of Medicine; Yamashita, T. [Kumamoto Univ. (Japan). School of Medicine; Dept. of Neurology, Kumamoto Univ. (Japan)

    2001-03-01

    We report a 59-year-old woman with human T-cell lymphotrophic virus type-I (HTLV-I) associated myelopathy/tropical spastic paraparesis who showed high signal in the cervical and thoracic spinal cord on T2-weighted and contrast enhancement on T1-weighted images. (orig.)

  9. Changes in Muscle Activation Following Ankle Strength Training in Children with Spastic Cerebral Palsy: An Electromyography Feasibility Case Report

    Science.gov (United States)

    Olsen, Jamie E.; Ross, Sandy A.; Foreman, Matthew H.; Engsberg, Jack R.

    2013-01-01

    Children with cerebral palsy (CP) are likely to experience decreased participation in activities and less competence in activities of daily living. Studies of children with spastic CP have shown that strengthening programs produce positive results in strength, gait, and functional outcomes (measured by the Gross Motor Function Measure). No…

  10. Physical Therapy for an Adult with Chronic Stroke after Botulinum Toxin Injection for Spasticity: A Case Report

    Science.gov (United States)

    Phadke, Chetan P.; Ismail, Farooq; Boulias, Chris

    2015-01-01

    ABSTRACT Purpose: In this case report, we describe the type and duration of a physical therapy and botulinum toxin type A (BoNTA) intervention directed at lower limb spasticity and the gait and balance improvement in a patient post-stroke. Treatment of focal spasticity with BoNTA intramuscular injections combined with physical therapy is recommended by rehabilitation experts. However, the optimal type and duration of physical therapy intervention to optimize any functional gains that follow chemodenervation induced by BoNTA has not been established. Method: One individual with chronic stroke who received BoNTA injections for upper and lower extremity spasticity was included. Physical therapy intervention consisted of 45- to 60-min sessions twice weekly for 12 weeks, based on the Bobath–neurodevelopmental therapy approach, and an activity-based home program. Results: After BoNTA injections and physical therapy, the patient made clinically significant improvements in balance and gait speed and became more independent with his ambulation. Conclusions: This case report demonstrates that physical therapy after BoNTA injections can result in significant functional improvements for individuals with spasticity after chronic stroke that may not be possible with BoNTA injections alone. PMID:25931655

  11. Classification of Posture in Poststroke Upper Limb Spasticity: A Potential Decision Tool for Botulinum Toxin A Treatment?

    Science.gov (United States)

    Hefter, Harald; Jost, Wolfgang H.; Reissig, Andrea; Zakine, Benjamin; Bakheit, Abdel Magid; Wissel, Jorg

    2012-01-01

    A significant percentage of patients suffering from a stroke involving motor-relevant central nervous system regions will develop a spastic movement disorder. Hyperactivity of different muscle combinations forces the limbs affected into abnormal postures or movement patterns. As muscular hyperactivity can effectively and safely be treated with…

  12. Substantial effects of epimuscular myofascial force transmission on muscular mechanics have major implications on spastic muscle and remedial surgery

    NARCIS (Netherlands)

    Yucesoy, C.A.; Huijing, P.A.J.B.M.

    2007-01-01

    The specific aim of this paper is to review the effects of epimuscular myofascial force transmission on muscular mechanics and present some new results on finite element modeling of non-isolated aponeurotomized muscle in order to discuss the dependency of mechanics of spastic muscle, as well as

  13. Subscales correlations between MSSS-88 and PRISM scales in evaluation of spasticity for patients with multiple sclerosis

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    Knežević Tatjana

    2017-01-01

    Full Text Available Introduction/Objective. Patient-reported outcomes have been recognized as an important way of assessing health and well-being of patients with multiple sclerosis (MS. The aim of the study is to determine the correlation between different subscales of Patient-Reported Impact of Spasticity Measure (PRISM and Multiple Sclerosis Spasticity Scale (MSSS-88 scales in the estimation of spasticity influence on different domains Methods. The study is a cross-sectional observational study. MSSS-88 and PRISM scales were analyzed in five domains (body-function domain, activity domain, participation domain, personal factors/wellbeing domain, and hypothesis. For statistical interpretation of the correlation we performed the Spearman’s ρ-test, concurrent validity, divergent validity, and the linear regression model. Results. We found a significant correlation between subscales of evaluated MSSS-88 and PRISM scales for body domains; the highest correlation was between the need for assistance/positioning (NA/P and walking (W. Spasticity has the weakest correlation with the need for intervention (NI. The presence of pain has a negative impact and significant positive correlation between pain discomfort and NI. In the domain of body function for males, there was a non-significant correlation between muscle spasms and NI. The same applies for social functioning and social embarrassment domains, as well as for emotional health and psychological agitation for personal factors / wellbeing domain. The differences between genders of MS patients persist in different domains; muscle spasms are strong predictors for NI, and body movement is a strong predictor versus W for NA/P. Conclusion. MSSS-88 and PRISM scales can be considered reliable in measuring different domains of disability for MS patients with spasticity. Because it is shorter, quicker, and simple to use, it is concluded that the PRISM scale can successfully compete with and replace the MSSS-88 scale in

  14. Developmental Profiles of Preschool Children With Spastic Diplegic and Quadriplegic Cerebral Palsy

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    Ya-Chen Lee

    2010-07-01

    Full Text Available Cerebral palsy (CP is a disorder of movement and posture control with multiple impairments. The clinical manifestations of CP vary among children. The aim of this study was to compare the developmental profiles of preschool children with either of two types of CP: spastic diplegic (SD CP and spastic quadriplegic (SQ CP. Relationships between the children's various developmental functions were also investigated. We recruited 137 children with spastic CP, aged 1-5 years (mean age = 3.7 ± 2.1 years, and we classified them into two groups: SD (n = 59 and SQ (n = 78. The comparison group comprised 18 children with typical development. Developmental functions were assessed in all the children, using the Chinese Child Development Inventory with the updated norms. This scale addressed eight functional domains: gross motor ability, fine motor ability, expressive language ability, concept comprehension ability, situation comprehension ability, self-help ability, personal-social skills, and general development. A development quotient (DQ was determined for each domain as a percentage of the developmental age divided by the chronological age. The developmental profiles of the CP subtypes were found to differ. Children with SQ were found to have lower DQs than those with SD (p < 0.01. There was also a difference in the distribution of DQs between the SD and SQ groups, although the lowest DQ in both groups was for the gross motor domain. An uneven delay in the development of gross motor function was found in both groups of children with CP. Motor functions, including gross motor and fine motor functions, were significantly related to self-help ability. Complex and significant correlations among developmental functions were also identified in children with CP. The findings in the present study may allow clinicians to anticipate the developmental profile of children with CP on the basis of whether they have the SD or SQ subtype. This, in turn, is likely to

  15. Intrathecal baclofen pumps do not accelerate progression of scoliosis in quadriplegic spastic cerebral palsy.

    Science.gov (United States)

    Rushton, Paul R P; Nasto, Luigi A; Aujla, Ranjit K; Ammar, Amr; Grevitt, Michael P; Vloeberghs, Michael H

    2017-06-01

    To compare scoliosis progression in quadriplegic spastic cerebral palsy with and without intrathecal baclofen (ITB) pumps. A retrospective matched cohort study was conducted. Patients with quadriplegic spastic cerebral palsy, GMFCS level 5, treated with ITB pumps with follow-up >1 year were matched to comparable cases by age and baseline Cobb angle without ITB pumps. Annual and peak coronal curve progression, pelvic obliquity progression and need for spinal fusion were compared. ITB group: 25 patients (9 female), mean age at pump insertion 9.4 and Risser 0.9. Initial Cobb angle 25.6° and pelvic tilt 3.2°. Follow-up 4.3 (1.0-7.8) years. Cobb angle at follow-up 76.1° and pelvic tilt 18.9°. Non-ITB group: 25 patients (14 female), mean age at baseline 9.2 and Risser 1.0. Initial Cobb angle 29.7° and pelvic tilt 7.1°. Follow-up 3.5 (1.0-7.5) years. Cobb angle at follow-up 69.1° and pelvic tilt 21.0°. The two groups were statistically similar for baseline age, Cobb angle and Risser grade. Mean curve progression was 13.6°/year for the ITB group vs 12.6°/year for the non-ITB group (p = 0.39). Peak curve progression was similar between the groups. Pelvic tilt progression was comparable; ITB group 4.5°/year vs non-ITB 4.6°/year (p = 0.97). During follow-up 5 patients in the ITB group and 9 in the non-ITB group required spinal fusion surgery for curve progression (p = 0.35). Patients with quadriplegic spastic cerebral palsy with and without ITB pumps showed significant curve progression over time. ITB pumps do not appear to alter the natural history of curve progression in this population.

  16. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Directory of Open Access Journals (Sweden)

    Cristina Castro-Fernández

    2015-06-01

    Full Text Available Next generation sequencing (NGS is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

  17. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

  18. [Effects of acupuncture on quality of life in children with spastic cerebral palsy].

    Science.gov (United States)

    Liu, Zhen-huan; Pan, Pei-guang; Ma, Mei-mei

    2007-03-01

    To investigate the effect of acupuncture in children with spastic cerebral palsy (SCP). One hundred SCP children, 2 to 7 years old, were randomly assigned to two groups equally. The control group was treated with rehabilitation training using Bobath and Vojta physical training methods and the acupuncture group treated also with the same training but with acupuncture conducted additionally. The therapeutic course was 3-12 months arranged according to the state of illness. The total effective rate, development quotient (DQ), improvement rate of brain hypogenesis and atrophy showed by skull CT, and recovery rate of cerebral emission computed tomography (ECT) were all higher in the acupuncture group than those in the control group (all P cerebral function and shows a favorable effect in improving quality of life of the children with SCP.

  19. Severe spinal stenosis in an adult achondroplastic dwarf – case report

    Directory of Open Access Journals (Sweden)

    B. Iliescu1, S. Gaivas1, C. Apetrei1, I. Poeată1,2

    2010-11-01

    Full Text Available Achondroplasia is the most commonform of human short-limbed dwarfism andis one of a spectrum of diseases caused bymutations in the FGFR3 gene.Achondroplasia is estimated to occur in 1 in10,000–30,000 live births4,7. The disease isautosomal dominant, but 80% of patientshave new mutations. It is commonlyassociated with several neurologicalconditions such as hydrocephalus,cervicomedullary compression, cervical orthoracic cord compression, and lumbarspinal compression due to bone stenosisalong the neuraxis. We report a case withsevere spinal stenosis at the lumbar andthoracic levels, with minimal involvementof the cervical spine with late neurologicalonset in an adult patient withachondroplasia. Neurological andradiological findings and surgicalprocedures are discussed. The patient wasadmitted with profound spastic lowerparaparesis and urinary incontinence. In thefirst operation we performed lumbardecompression and the patient improvedand on the fifth day she was able to take ashort walk. 3 months after the first surgerywe intervened on the thoracic spine with amulti-level decompression which allowedfor further neurological improvement,continued in a specialized medical facility.The case stands out as the clinical picturewas dominated by the lumbar stenosis(although both lumbar and thoracicstenosis were severe at the time ofpresentation with a late onset and sparingof the cervical spine.

  20. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

    Science.gov (United States)

    Renvoisé, Benoît; Chang, Jaerak; Singh, Rajat; Yonekawa, Sayuri; FitzGibbon, Edmond J; Mankodi, Ami; Vanderver, Adeline; Schindler, Alice B; Toro, Camilo; Gahl, William A; Mahuran, Don J; Blackstone, Craig; Pierson, Tyler Mark

    2014-01-01

    Objective Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities. Furthermore, both have been linked to early-onset parkinsonism. Methods We describe two new cases of SPG15 and investigate cellular changes in SPG15 and SPG11 patient-derived fibroblasts, seeking to identify shared pathogenic themes. Cells were evaluated for any abnormalities in cell division, DNA repair, endoplasmic reticulum, endosomes, and lysosomes. Results Fibroblasts prepared from patients with SPG15 have selective enlargement of LAMP1-positive structures, and they consistently exhibited abnormal lysosomal storage by electron microscopy. A similar enlargement of LAMP1-positive structures was also observed in cells from multiple SPG11 patients, though prominent abnormal lysosomal storage was not evident. The stabilities of the SPG15 protein spastizin/ZFYVE26 and the SPG11 protein spatacsin were interdependent. Interpretation Emerging studies implicating these two proteins in interactions with the late endosomal/lysosomal adaptor protein complex AP-5 are consistent with shared abnormalities in lysosomes, supporting a converging mechanism for these two disorders. Recent work with Zfyve26−/− mice revealed a similar phenotype to human SPG15, and cells in these mice had endolysosomal abnormalities. SPG15 and SPG11 are particularly notable among HSPs because they can also present with juvenile parkinsonism, and this lysosomal trafficking or storage defect may be relevant for other forms of parkinsonism associated with lysosomal dysfunction. PMID:24999486